diff --git "a/data/candidate_genes_variants.json" "b/data/candidate_genes_variants.json" new file mode 100644--- /dev/null +++ "b/data/candidate_genes_variants.json" @@ -0,0 +1,28585 @@ +{ + "summary": { + "total_candidate_genes": 16, + "total_variants_in_panels": 1576, + "mosaic_candidates": 94 + }, + "genes": { + "BUB1B": { + "info": { + "chr": "15", + "start": 40189000, + "end": 40251000, + "full_name": "BUB1 Mitotic Checkpoint Serine/Threonine Kinase B (BUBR1)", + "role": "MVA Type 1 (Spindle Assembly Checkpoint, SAC)", + "omim": "602860" + }, + "variant_count": 63, + "variants": [ + { + "gene": "BUB1B", + "chrom": "15", + "pos": 40192892, + "dbsnp": "rs185599777", + "ref": "C", + "alt": "T", + "type": "SNV", + "qual": "652.77", + "filter": "PASS", + "gt": "0/1", + "ad_ref": 17, + "ad_alt": 23, + "dp": 40, + "gq": 99, + "vaf": 0.575, + "classification": "Germline Heterozygous" + }, + { + "gene": "BUB1B", + "chrom": "15", + "pos": 40193435, + "dbsnp": "rs483238", + "ref": "T", + 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