diff --git "a/data/variants.json" "b/data/variants.json" --- "a/data/variants.json" +++ "b/data/variants.json" @@ -4,7 +4,7 @@ "gene": "HBB", "name": "HBB c.20A>T", "sig": "Pathogenic", - "blurb": "sickle cell \u00b7 p.Glu6Val", + "blurb": "sickle cell anemia \u00b7 p.Glu6Val", "chrom": "11", "pos": 5227002, "gene_strand": -1, @@ -13,8 +13,8 @@ "ref_window": "CAATGCTAATGCAGGTTTAAATTTAATAAAATAAAATCCAAAATCTAACAGCCAAGTCAAATCTGCATGTTTTAACATTTAAAATATTTTAAAGACGTCTTTTCCCAGGATTCAACATGTGAAATCTTTTCTCAGGGATACACGTGTGCCTAGATCCTCATTGCTTTAGTTTTTTACAGAGGAATGAATATAAAAAGAAAATACTTAAATTTTATCCCTCTTACCTCTATAATCATACATAGGCATAATTTTTTAACCTAGGCTCCAGATAGCCATAGAAGAACCAAACACTTTCTGCGTGTGTGAGAATAATCAGAGTGAGATTTTTTCACAAGTACCTGATGAGGGTTGAGACAGGTAGAAAAAGTGAGAGATCTCTATTTATTTAGCAATAATAGAGAAAGCATTTAAGAGAATAAAGCAATGGAAATAAGAAATTTGTAAATTTCCTTCTGATAACTAGAAATAGAGGATCCAGTTTCTTTTGGTTAACCTAAATTTTATTTCATTTTATTGTTTTATTTTATTTTATTTTATTTTATTTTGTGTAATCGTAGTTTCAGAGTGTTAGAGCTGAAAGGAAGAAGTAGGAGAAACATGCAAAGTAAAAGTATAACACTTTCCTTACTAAACCGACATGGGTTTCCAGGTAGGGGCAGGATTCAGGATGACTGACAGGGCCCTTAGGGAACACTGAGACCCTACGCTGACCTCATAAATGCTTGCTACCTTTGCTGTTTTAATTACATCTTTTAATAGCAGGAAGCAGAACTCTGCACTTCAAAAGTTTTTCCTCACCTGAGGAGTTAATTTAGTACAAGGGGAAAAAGTACAGGGGGATGGGAGAAAGGCGATCACGTTGGGAAGCTATAGAGAAAGAAGAGTAAATTTTAGTAAAGGAGGTTTAAACAAACAAAATATAAAGAGAAATAGGAACTTGAATCAAGGAAATGATTTTAAAACGCAGTATTCTTAGTGGACTAGAGGAAAAAAATAATCTGAGCCAAGTAGAAGACCTTTTCCCCTCCTACCCCTACTTTCTAAGTCACAGAGGCTTTTTGTTCCCCCAGACACTCTTGCAGATTAGTCCAGGCAGAAACAGTTAGATGTCCCCAGTTAACCTCCTATTTGACACCACTGATTACCCCATTGATAGTCACACTTTGGGTTGTAAGTGACTTTTTATTTATTTGTATTTTTGACTGCATTAAGAGGTCTCTAGTTTTTTATCTCTTGTTTCCCAAAACCTAATAAGTAACTAATGCACAGAGCACATTGATTTGTATTTATTCTATTTTTAGACATAATTTATTAGCATGCATGAGCAAATTAAGAAAAACAACAACAAATGAATGCATATATATGTATATGTATGTGTGTATATATACACACATATATATATATATTTTTTCTTTTCTTACCAGAAGGTTTTAATCCAAATAAGGAGAAGATATGCTTAGAACCGAGGTAGAGTTTTCATCCATTCTGTCCTGTAAGTATTTTGCATATTCTGGAGACGCAGGAAGAGATCCATCTACATATCCCAAAGCTGAATTATGGTAGACAAAACTCTTCCACTTTTAGTGCATCAACTTCTTATTTGTGTAATAAGAAAATTGGGAAAACGATCTTCAATATGCTTACCAAGCTGTGATTCCAAATATTACGTAAATACACTTGCAAAGGAGGATGTTTTTAGTAGCAATTTGTACTGATGGTATGGGGCCAAGAGATATATCTTAGAGGGAGGGCTGAGGGTTTGAAGTCCAACTCCTAAGCCAGTGCCAGAAGAGCCAAGGACAGGTACGGCTGTCATCACTTAGACCTCACCCTGTGGAGCCACACCCTAGGGTTGGCCAATCTACTCCCAGGAGCAGGGAGGGCAGGAGCCAGGGCTGGGCATAAAAGTCAGGGCAGAGCCATCTATTGCTTACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGTTGGTATCAAGGTTACAAGACAGGTTTAAGGAGACCAATAGAAACTGGGCATGTGGAGACAGAGAAGACTCTTGGGTTTCTGATAGGCACTGACTCTCTCTGCCTATTGGTCTATTTTCCCACCCTTAGGCTGCTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGATCTGTCCACTCCTGATGCTGTTATGGGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGACAACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGGTGAGTCTATGGGACGCTTGATGTTTTCTTTCCCCTTCTTTTCTATGGTTAAGTTCATGTCATAGGAAGGGGATAAGTAACAGGGTACAGTTTAGAATGGGAAACAGACGAATGATTGCATCAGTGTGGAAGTCTCAGGATCGTTTTAGTTTCTTTTATTTGCTGTTCATAACAATTGTTTTCTTTTGTTTAATTCTTGCTTTCTTTTTTTTTCTTCTCCGCAATTTTTACTATTATACTTAATGCCTTAACATTGTGTATAACAAAAGGAAATATCTCTGAGATACATTAAGTAACTTAAAAAAAAACTTTACACAGTCTGCCTAGTACATTACTATTTGGAATATATGTGTGCTTATTTGCATATTCATAATCTCCCTACTTTATTTTCTTTTATTTTTAATTGATACATAATCATTATACATATTTATGGGTTAAAGTGTAATGTTTTAATATGTGTACACATATTGACCAAATCAGGGTAATTTTGCATTTGTAATTTTAAAAAATGCTTTCTTCTTTTAATATACTTTTTTGTTTATCTTATTTCTAATACTTTCCCTAATCTCTTTCTTTCAGGGCAATAATGATACAATGTATCATGCCTCTTTGCACCATTCTAAAGAATAACAGTGATAATTTCTGGGTTAAGGCAATAGCAATATCTCTGCATATAAATATTTCTGCATATAAATTGTAACTGATGTAAGAGGTTTCATATTGCTAATAGCAGCTACAATCCAGCTACCATTCTGCTTTTATTTTATGGTTGGGATAAGGCTGGATTATTCTGAGTCCAAGCTAGGCCCTTTTGCTAATCATGTTCATACCTCTTATCTTCCTCCCACAGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTTCTTGCTGTCCAATTTCTATTAAAGGTTCCTTTGTTCCCTAAGTCCAACTACTAAACTGGGGGATATTATGAAGGGCCTTGAGCATCTGGATTCTGCCTAATAAAAAACATTTATTTTCATTGCAATGATGTATTTAAATTATTTCTGAATATTTTACTAAAAAGGGAATGTGGGAGGTCAGTGCATTTAAAACATAAAGAAATGAAGAGCTAGTTCAAACCTTGGGAAAATACACTATATCTTAAACTCCATGAAAGAAGGTGAGGCTGCAAACAGCTAATGCACATTGGCAACAGCCCCTGATGCATATGCCTTATTCATCCCTCAGAAAAGGATTCAAGTAGAGGCTTGATTTGGAGGTTAAAGTTTTGCTATGCTGTATTTTACATTACTTATTGTTTTAGCTGTCCTCATGAATGTCTTTTCACTACCCATTTGCTTATCCTGCATCTCTCAGCCTTGACTCCACTCAGTTCTCTTGCTTAGAGATACCACCTTTCCCCTGAAGTGTTCCTTCCATGTTTTACGGCGAGATGGTTTCTCCTCGCCTGGCCACTCAGCCTTAGTTGTCTCTGTTGTCTTATAGA", 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"gene": "VHL", + "name": "VHL c.475A>T", + "sig": "Pathogenic", + "blurb": "Von Hippel-Lindau \u00b7 premature STOP", + "chrom": "3", + "pos": 10149798, + "gene_strand": 1, + "ref": "A", + "alt": "T", + "ref_window": 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"AGAATTGGACAGCAGAGAATTAAAGGTTGCAATCTTTGACAAAATCCTAGAGTGTAGTTAATCTACAGACAAAGGATGATCCAAAGGCTTTGACAATCAACCAAATAGAAGATAGGATTAAGGTTCTCTTTTGCAGATTAAAGAGCCTAACTAGGACTCCTGTGTGTTTTATGCACCTGACAAGGTCTATTCTGTTCATTTAAAATAGCCAAAGGACAAAAGCAGTTTTTTTTCTCCATGCCTCTTTCCCTTCTTCCATTTCTGATCCCTTTTATGTGCTCTCAGCAAGTGTAGACATACCTTATTAAAAGTTCAGGATCTGGCTATTTGTCTGTGCCTCTCAAGCAAGTAGCTTTTCCCCCCCACCAAGGGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCATGGCTCACTGCAACCTCCACTTCCTGGGCTCAGGCGATTCTCGCACCTCAGCCTCTCAAGTAGCTGGGACTACAGGCACACGCCCCAACGCCTGGCTAATTTTTGTATTTTTTTGTAGAGATGAGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGGTTACAGGTTTGAGCCACTGAACCTAGCTGAGAAGATGACTTCAAAGACAGTGTCCTAAAAAATCTACCGGGCAGGGGAAGGGGATCATGGTCTAGAGATGAGAAGCAGATTCAAAATGAGATGTGGCCCAAGCTGAAAAGAGAAGGGCAGGGGAAGGAGGACTTGCTTGGAGAGAGTGATACTGTGAGGAAAACGTCACTTCTCCTAACCTATCCTCTAAAGTCAGACTTCTCTTTCCATTTTCCACCTTAATGTGTGAGTGAAACACTCTCTCCAATGCTCCTGCCAAGTGATGAGGGGAGGTTACTGCTCAGATAAACAGATCTAATTTTCCTACTGTGTGTACACATGTATACACACACACCATCCAAAAGGTGAATATGCAAAGCTAGTATCTTATATTATTTGTCATGATCAACCTTAAATCCTAGAATAAATTTGATTTAACTTTGTAGATCGTGTTCAAAAATATGGCCAGCCGCCCCTATAGCATTTACCCTCATGGAGTGACCTTCTCGCCTTATGAAGATGAAGTCAACTCTTCTTTCACCTCAGGTTTGAATCTTTCACTTCTACTGAATCCAACTAGTAACTTCTGAGAGGCTGCCACATTTTTCTGCTATTCTCCTTGCCCGGTGGTGTCACTACTGCAGTCAGGTAGTATACATGTAGGAGTATCCTAAAAATCACAGCCAAACCCTTCTCACTTCAGGAGTTTTGTCTCTTAGTGGTAACAAAATATGGTGTCTTTTATTAGTGTCATAGTGGCCTCTAGTGGAGCATTATCTAATGGCTACATGTTATCCAGGTTCCAAGTAGAATATTTAAAGAATTCAATTGAACAATGAGAACATTTAGACACAGGATGGGGAACATCACACACCGGGGCCTGTCGGGGGGGGGGGGTGGGGGGCGGGGGGAGGGATAGCATTAGGAGATATACCTAATGTTAATGACAAGTTAATGGGTGCAGCACACCAACATGACACATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATTTAAAAAAAATAAAAATAAAAGAATTCCTTTTGCAATATTAATTGGTTCCAGCGAAAGCTTATTTATTTATTTATTATCATGAAATAACTTTGCAAATGAAAACAATTTTGAATATATTTTCTTTCAGGCAGGAACAACACCATGATCAGAGCAGTTCAACCAGGGGAAACCTATACTTATAAGTGGAACATCTTAGAGTTTGATGAACCCACAGAAAATGATGCCCAGTGCTTAACAAGACCATACTACAGTGACGTGGACATCATGAGAGACATCGCCTCTGGGCTAATAGGACTACTTCTAATCTGTAAGAGCAGATCCCTGGACAGGCGAGGAATACAGGTATTTTGTCCTTGAAGTAACCTTTCAGAAATTCTGAGAATTTCTTCTGGCTAGAACATGTTAGGTCTCCTGGCTAAATAATGGGGCATTTCCTTCAAGAGAACAGTAATTGTCAAGTAGTCCTTTTTAGCACCAGTGTGATAACATTTATTCTTTTTTTTTTTTTGTCTTGTCTATTTTTATCAGTACCATCACTGCCGAAGGCAAGTCTAGAGTGTGATAACATATTTTGTCTTAGTTTCAAATTCCAGGTCTGTTGGTATTGGATGTGTTGAGCAAGTTGATTAGCCTTTCCTAATTTCTTCCTTTTATCAAATGGGTAATAACCCTCCTAAAAATGTTACAGGTCTGTTTGGGGGTTCAGTGAGATACCATCTGGTAAAAGTATAAAGCTCTTTACCAGTCTTTGCTATTTTTAGAGACCTGCAATAGGGAGACAGAGGAGAGATTCTCTGAAAGCAACCAAATTTAGAGACATAGTTCCTAGTGAAATTGGACCCAGATTATGGCCCATCTCTGTTGAGACTAAAGTATACAGAAGAATGTGAACAAAGATACTGAATTTCTGAGTTTGTCTTCATTGAAGAATTGTAGTCTCATATTATTAAACTAAAATTCCCAATTATGCTAAACTGTAACCAAAGAGGTCTTATCTCAAGGCATACAAAATAAACATATGCCTAGAAAAAGCAGAAATGAATTTCTGGACATATGGAAGATCCTGATTTATTGAGCTAGGAAAGGAAACAGGTAGTAGAAGCATAAGGCTTTTCTATTGCAACCTTCTCTTTCATCCTTTGCACTTATTCAGAGCATATTCAGTCAATCATTCATGTTGAAAGGTGTGCAATTACAGAGATAGACAGACTTTCAGCTGCCATAGCGAAATGAGATTTTTCTTTTGGGATTTGTTTTTTTTTTTTTTTTCTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGAGCAGTGGCACCATTTTAGATCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGTCTCTTGAGTAGCTGGGATTACAGGCGCCCGCCACCACCCCCATGTAATTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTAAGGTGTTCCACCTGCCTCAGCCTCCCAAAGTGCTGGTATTACAGGTGTGAGCCACTGTGCCCGGCTCTTTTGGGATATTTTAATCTCTGAATTTTCTTATCTGTTCTGTTTGCTTTTGCATATTACCTTTAGCTCTAACAAGTGCTGTGTACACAATGGACTCTCATAAATGCCTGAATTATATGGCTTCAGTAGTTCCAAGAACTATGTCACTTTGGTTTCTGAGAACTCAGTGGTGTAGATAATTTGCTGCAATGTTAATGACTGAATACAGCACTTTTTTTTCTTTTTTTTTTACTCTTAAGTTCAGGGGTACTTATGTGCAGGATGTGCAGGTTTGTTACATAGGTAAACATGTGTCATGGAGGTCTGTTGTACTTACTACTTCATCACCCAGGTATTAAGCCTAGTATCCATTAGTTATTTTTTCTGATCCTCTCCCTCTTTCCACCCTCCATCCTCTGATAGGCCCCAGTATGTATTGTTCCCTTCTATGTGTCCATGTGTTCTCATAATTTAGCTTTCACTTGTAAGTGAAAACATGCAGTATGTGGTTTTCTGTTCTTGCGTTAACTTGCTTAGAATAATGGCCTCCAGCTCCATCCATGTCCCTGCAAAGGACATAATCTTGTTCTTTTTGATGGTCACATAGTATTCTATGGTGTATATGTACCATATTTTCTTCATCCAGTCTGTCATTGATGGGCATTTGGGTTGATTTCATGTCTTTGCTATTGTGAAGAGTGCGAAAATGAACATACGCATGCATGTGTCTTTATAACAGAATGATTTATATTCCTTTGGGTACATACCAAGTAATGGAATTGCTGGGTTCAAAGGT", - "var_offset": 2001, + "ref_window": "AGCTATGAAGAAAGAAGTCTCTTAGCAACTCTTACAATAATCACAATCAAAGAATGACTGTTTAACTTAATATAAACCAGTTTGTTTTAATAAAATATTTGACAATAGTCATGGTTACACAATGCATAAATTATGGCTAAATTATTATCAGGAAGGAAAAATCTTTACTTATTATTTCAAAAGCTATTTTGCTAGTCTATTAAAAGCTATTAGAACTGCACTTCTTAAGATTAAATTCTATAATTGAACATTTTAACTAACCAAGATATTATCTCTTTGCCACTGACATTATTTCAAATTAAGCTTAACTATTTCTTTTTAGCCTTTGGAAAGTATTCTGAAAGAGTCTGTGTTCTATAAATATACTTAAAGAGGCATGTCTTATAAAGGATTTGGATACTATTCAATGATGTATGACTTGGCTTTAGCTTTTTTATTCTTAATCTCTCAGCTTTTCTCTTCAGCAGGGGAAGAGTACCTAATGGCCTTTCAGTAATCCCTTGGTAAATTTTTCTTTCAAGCCCATTACTTACTGTGAAGGTCAACTTCATTAGTGTATTTATCTTATTTTTTTCAGCCCAAAATAGGTATATTGAAATGAATGGGCCTAATGTCAAATGTCCCGACTACATCCTGGAAGAGAGAGAATCTTCAGCTGTATTAGTTGATGCAGTTAAATAATATGTACTCTCCAGGCCCTCATACAATTGAAAGTTCAGGGTATCGTTGCTGCTCTGCTTCTAATCCTTCCAGAAGTGATTGGTGCTAGGTGATGGAGTAACTATTAATTGATATAATGTGAGCCAAAACCAACAGTCACGAATAAGCAAAGGATTTAAATTTAACTCCATTAAGTCTTGTGAGAAATTATTTTCAACATAGGTTATAACATACCTGTGACATCACATGAAATGCTGTAGTCAATTTGACATCATGGGGCAGAGAAGACAGAGTTGGAAATCAGAATTTTATAGACATCTAATGTGATAATAACATTAGTAGCTGAGATGCGGTAAGCTCTTTGACCATGTTTCCAGAATGGATAAGACCTGGTTGAGATGAAAACTTTACACTGTTTTTTTATATTAACTATCTTTTACTCTTTGCCTGAAATGTCCAACTCTAGTTGCTCGTGATTGCGTGGGTCAGTCTCCAGAAGGTTGGACTTTAATATTACCCGTCATCTTTTCCAAGACAAAATTGTATTCATTCTAACTCTTAGCCCCAAATTTTCTTTTTTAACCTTAATATCTAACATGATTAGGTTTATGGTAAATTATATACTCAAACAGAAGAAGAGACTAATAGCAAGCAAAAGTCTTATATTTTCATTTGTTTTCATCCAAAAAGTAGAAAATATTTTCCAAACATTGGGAAACATTTTAGTCAGAAAAATAAATATCAATGATAAATAGAATAGAGAAAAATTTTAAAGCTGAGCTAAACCTCTATGTGGTTTTAGGAAAATCAAAACTATTAAATAAATGGCAAGTACAACAAAATCCCATCAATTCTTATTTAACATACTTACATTTTGAAATAGTTAAAATATTCATATGATCATTGAGAGAATTCAGAATTGCCTTTAAGTAATTGTTCACATATACAAAAGAAAAGTCTCCAAAAATTGGGTCTTTGCCTGAGATAGATTTGTCTTAAAATTGAAATCATTCACTTATCAGATTTGACCCTTTTTTAAAGCATAACTTTGCTGTGTAATATTAGACTTATATGTTTTGATTTCCTTCTACAATATCTCTTAACTTTAAGGGACAAAGTGAGCACAGAATTTTTGATGCTTGACATAGTGGACATTTATATTTAAGGAAATTAGGACAAAAATTATTATAATGTAATCACATTTGAATAAGATTTCCTGTGCATTTTCTGGCAGATACCTCCACTCAGCCATGATTATATACCGAGACCTGAAACCCCACAATGTGCTGCTTTTCACACTGTATCCCAATGCTGCCATCATTGCAAAGATTGCTGACTACGGCATTGCTCAGTACTGCTGTAGAATGGGGATAAAAACATCAGAGGGCACACCAGGTAGGTGATCAGGTCTGTCTCATAATTCTATCTTCAGGATGGATAACCACTGACCTCAGATGTGAGTTCAGAAGAGTCAAAAGGAAAACAGAGTCTATCACATTGTGAACAGAGGTTTATTTTGTGAAAAAATGCAAGCATCACATTGTGATTTTTATCATTGTATTTTGTAGGAAAAAAACAATTGATGTAATTTTTCAGGGCAAAAACTGAATAAAAAGAAGAGAATGTTTGATATCAAGTTATATGTTTTAAAGTTAGATTTGTAGATTCTTTAGATACTCTAGAGGTCATAAAAAGTAACAGCAAAAACTTTAGTCTAGGTATTGTTGGCACTTGTGAGGCAAATCAAATTCAGGTCCACAAATTCTTTTTCATAATTCTGAAACCCAAAGAACTCTGAAAATCCCAAGATTTTTTAAAAAATGACTAATTTGGTGTCAAAACCTAAGCAAGCTGACTTGTTGCTTATTACAATCTTTATTTCTCATGCTCAGTGTGAATATGCATACATTTTGCTGCAGAAATATATACATGTTTGAGTACAGGGGGCTGGCCGTGACCCTACTGAGGGTTTCTGTACACATCACTGTCTACCCTGTGGAATCTTACCTCCCTTTCTTAGTTCCCAATCCTGAAAAGCAGTTATGGGGCCAGTGCTCTGTACAGACATGTTGTCTCAGACATCAGTTTGAGCAGGAAGTAAATCATTTAGGGGTTGGCATTTGTTTGGAGTGTGGGGAACACTCTATCTTTAGGGAAACTTTATATAGTTAGTTATTTGTAAGTAAAATTACAGGTGGCTATACATCATCTTGCTGATTGCAACTCAATTAAATCACCGTGCCTGGCACAGAAGAAAATATGCTACAGGATATCTCACTAGGGAAAAGGTTCTAGTTCGTTTCCTGCGCACTCAACTTTTGTACTTAGATAAGCAAATGGCCCCAGATTCCAATGCCTGGTTTTATTTTTGCTCCAAATACATATATACTCTTTTGTTTTGGATAGTTACATTTTAGAAGTAGACTGTGTATTCTCATAAACACTTCAAAGTGTATGTTCTGGCTGAGAGTGTCTCTGTGTTGTTCAATAATAATAAGACTAATTATCATTTTTTGAGTACCTGCTGTGCGTCAGGCCCAGTGCCACGTATATTAGAGACAAGATCTCTTATCCTCATGCCAGGGCTGGAAGTTAGCTATTAGTTTCTCATTTGCCAAATGAGAAAACTGAGGCTCAGGGAGATTATGTAACTTGCAGAATATCACTCAGTAATTGGCCAAGATAAGAATTCAGTCTAAATGAGAACCAGATCCAGAGATATTTGGCTTTAAATTCTATAGTCTCTCCTAAACCATATGCAACTCTAACATGAAGAAGCTTATTTAATCTTCACTATTAAAAAAGTCAAAACAAAACAACAGAGCCATGAATAGCAAATATTGTCAATGAGAGGTTTGGAAAAACAGTCTTAAAGGATGAAATTCCATAGACCTGATATATTTCCACCTGGAAAAAGTGGGCATGGGACAGTGATTTTCTCTTGAAAGATCTGCTCATTTTTGTCATGGGACATGAAGGTGGACTGGACCACTCAGTTTCTTCTTTCTGCATCTCCCAACCCAGTCTTTCTGTTCATGGGGTGAAAATCTGTTGTTGAAGCCTTGTCTGCTTAATTGGACAGTGGATCTCTCGGGTCCCTGTGGGCTGTGCGCTTGTACTTGAGCTCTGCTTCTTCACTCTGTGGTCTAGGCCAGCTAGCAGCCAGCTGAGTTCACCTTGGTTCAGACTCATGGCCTTTCATTTTCAGTATCTGACTTCCTGGTTTTGCTGAAAACCTGTCTAAAATGTAATATCCATCTGATTCTTCATACCAAGCCACACAATTCTTCCTGATCCCTTTTAATCTCCAATATTGAATGGTGGTAACATAAATATGGAGAC", 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"rs182781943", + "gene": "VHL", + "name": "VHL c.*820A>G", "sig": "Benign", - "blurb": "common polymorphism \u00b7 benign", - "chrom": "17", - "pos": 7676154, - "gene_strand": -1, - "ref": "C", + "blurb": "common 3' UTR variant \u00b7 same gene as row above", + "chrom": "3", + "pos": 10150785, + "gene_strand": 1, + "ref": "A", "alt": "G", - "ref_window": "TGTCTCTACTAAAAATACAAAAAATCAGCCAGGCATGGTGGCAGGGGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAAACCAGAAGGCAGAGGTTGCAGTGAGCCTAGACTGCACCACTGCACTCCAGCCTGGGCGAAAAGAGCCAAACTCCATCTCAAAAAACAAACAAAAAAACAAAACAAAAGAAAACATGGCAAAGCCTTTGAAAGCTTGTCTGGGAGAAGGTGCGATGATAGTTGCATAACTTCGTGCAAGATGCTGGTCCACACAGGGGCTGCCCCTTGCTCTTTCTCGCTCTCTTAACCTCTCATATAACAGGCTTGTGTGTTATTCACATTTATTGAGCCCAAGCAGGTGCAAGGCATTGTGATCTAATACTTTGGTCAGCAAGACAACAAGATAGATCACTGCCCTGCCCTTAGGAAGTGTATATGCTATTAGAGGAAACAGATAAAATAAACAAGGAAAAGTATCAGACAATGTAAGTGCTATGAGAATGCAAATGAGGTGATGTGAATTAAAATAGGATGACTTAAAGTCTGCACGGGAAGGAGCCTACCCCCATGTTCCTGGCTAGCCAAGGAACCACCAGTTGATTAGCAGAGAAGGGCAGCCAGTCTAGCTAGAGCTTTTGGGGAAGAGGGAGTGGTTGTTAAGAGATGAGATTAAAGAAGCCGAGACGGGCCATTCGTGAGGGGTTTGTAATGCAGGGCTGAGGAGTGTCCGAAGAGAATGGGCAGGTGAGCGGTGAGACAGTTGTTCTTCCAGAAGCTTTGCAGTGAAAGGAATCAAAGAAATGGAGCCGTGTATCAGGTGGGGAAGGGTGGGGGCCAAGGGGGTGTCCTTCCCCATACAGAGATTGCAGGCTGAGAATGACTATATCCTTGTTAACAGGAGGTGGGAGCAGGGCACGGTAGCTCACACCTGTAATCTTGGCACTTTAGGAGGCTGAGGCGGGCCGATCACCTGAAGTAAGGAGTTCGAGACCAGCCTGGCCAACATGCAAAGCCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTACTCGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCTTGAACCCGGAAGGTAGAGGTTGCAGTGAGCTGAGATCATGCCACTGTGCTCCAGCCTAGGTGACAGAGAGAGACTCCATCTCAAAAAAAAAAAAAAAATACAGGAAGGGAGTTGGGAATAGGGTGCACATTTAGGAAGTCTTGGGGATTTAGTGGTGGGAAGGTTGGAAGTCCCTCTCTGATTGTCTTTTCCTCAAAGAAGTGCATGGCTGGTGAGGGGTGGGGCAGGAGTGCTTGGGTTGTGGTGAAACATTGGAAGAGAGAATGTGAAGCAGCCATTCTTTTCCTGCTCCACAGGAAGCCGAGCTGTCTCAGACACTGGCATGGTGTTGGGGGAGGGGGTTCCTTCTCTGCAGGCCCAGGTGACCCAGGGTTGGAAGTGTCTCATGCTGGATCCCCACTTTTCCTCTTGCAGCAGCCAGACTGCCTTCCGGGTCACTGCCATGGAGGAGCCGCAGTCAGATCCTAGCGTCGAGCCCCCTCTGAGTCAGGAAACATTTTCAGACCTATGGAAACTGTGAGTGGATCCATTGGAAGGGCAGGCCCACCACCCCCACCCCAACCCCAGCCCCCTAGCAGAGACCTGTGGGAAGCGAAAATTCCATGGGACTGACTTTCTGCTCTTGTCTTTCAGACTTCCTGAAAACAACGTTCTGGTAAGGACAAGGGTTGGGCTGGGGACCTGGAGGGCTGGGGACCTGGAGGGCTGGGGGGCTGGGGGGCTGAGGACCTGGTCCTCTGACTGCTCTTTTCACCCATCTACAGTCCCCCTTGCCGTCCCAAGCAATGGATGATTTGATGCTGTCCCCGGACGATATTGAACAATGGTTCACTGAAGACCCAGGTCCAGATGAAGCTCCCAGAATGCCAGAGGCTGCTCCCCCCGTGGCCCCTGCACCAGCAGCTCCTACACCGGCGGCCCCTGCACCAGCCCCCTCCTGGCCCCTGTCATCTTCTGTCCCTTCCCAGAAAACCTACCAGGGCAGCTACGGTTTCCGTCTGGGCTTCTTGCATTCTGGGACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGGGCTGGCTTCCATGAGACTTCAATGCCTGGCCGTATCCCCCTGCATTTCTTTTGTTTGGAACTTTGGGATTCCTCTTCACCCTTTGGCTTCCTGTCAGTGTTTTTTTATAGTTTACCCACTTAATGTGTGATCTCTGACTCCTGTCCCAAAGTTGAATATTCCCCCCTTGAATTTGGGCTTTTATCCATCCCATCACACCCTCAGCATCTCTCCTGGGGATGCAGAACTTTTCTTTTTCTTCATCCACGTGTATTCCTTGGCTTTTGAAAATAAGCTCCTGACCAGGCTTGGTGGCTCACACCTGCAATCCCAGCACTCTCAAAGAGGCCAAGGCAGGCAGATCACCTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATGATGAAACCTCGTCTCTACAAAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCACACCTATAGTCCCAGCCACTTAGGAGGCTGAGGTGGGAAGATCACTTGAGGCCAGGAGATGGAGGCTGCAGTGAGCTGTGATCACACCACTGTGCTCCAGCCTGAGTGACAGAGCAAGACCCTATCTCAAAAAAAAAAAAAAAAAAGAAAAGCTCCTGAGGTGTAGACGCCAACTCTCTCTAGCTCGCTAGTGGGTTGCAGGAGGTGCTTACGCATGTTTGTTTCTTTGCTGCCGTCTTCCAGTTGCTTTATCTGTTCACTTGTGCCCTGACTTTCAACTCTGTCTCCTTCCTCTTCCTACAGTACTCCCCTGCCCTCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTGTGCAGCTGTGGGTTGATTCCACACCCCCGCCCGGCACCCGCGTCCGCGCCATGGCCATCTACAAGCAGTCACAGCACATGACGGAGGTTGTGAGGCGCTGCCCCCACCATGAGCGCTGCTCAGATAGCGATGGTGAGCAGCTGGGGCTGGAGAGACGACAGGGCTGGTTGCCCAGGGTCCCCAGGCCTCTGATTCCTCACTGATTGCTCTTAGGTCTGGCCCCTCCTCAGCATCTTATCCGAGTGGAAGGAAATTTGCGTGTGGAGTATTTGGATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTATGAGCCGCCTGAGGTCTGGTTTGCAACTGGGGTCTCTGGGAGGAGGGGTTAAGGGTGGTTGTCAGTGGCCCTCCAGGTGAGCAGTAGGGGGGCTTTCTCCTGCTGCTTATTTGACCTCCCTATAACCCCATGAGATGTGCAAAGTAAATGGGTTTAACTATTGCACAGTTGAAAAAACTGAAGCTTACAGAGGCTAAGGGCCTCCCCTGCTTGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTTGGGAGATCGAGACCATCCTGGCTAACGGTGAAACCCCGTCTCTACTGAAAAATACAAAAAAAAATTAGCCGGGCGTGGTGCTGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATGGCGTGAACCTGGGCGGTGGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGATTCCATCTCAAAAAAAAAAAAAAAAGGCCTCCCCTGCTTGCCACAGGTCTCCCCAAGGCGCACTGGCCTCATCTTGGGCCTGTGTTATCTCCTAGGTTGGCTCTGACTGTACCACCATCCACTACAACTACATGTGTAACAGTTCCTGCATGGGCGGCATGAACCGGAGGCCCATCCTCACCATCATCACACTGGAAGACTCCAGGTCAGGAGCCACTTGCCACCCTGCACA", - "var_offset": 2001, + "ref_window": "ATTCTCCTGCTTCAGCAGCTGGGACTACAGGTGTGCACCACCAAGCCTGGCTAATTTTTTGCATTTTAGTGGAGACGGGGGTTTCACCATGTTGACCAGGCTGATCTTGAACTCTTGAGCTCAGGCAGTCTGCCTGCCTCAGCCTCCTAAAGTGCTAGGATTACAGGCGTGAGCCACTGCGCCCAGCCCACCATTTTATTTGTTCATAATTCTGTAGTCCAGGCTGGGCTCAGCTAGGCAGTTACTCTGCTGGTGGTAGTCGTTGGTGTGGCTGCCTTTTGCTGGCAGCTGGGGGCTGGGCCTGTCCCTCTTTTTTTTTTTTCTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCTTAGCTCACTGCAACCTCTGCCTCCAGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCCAGTCGCTGGGACCACAGGCATGTGCCACCATGCCTGGCTAATTTTTTGTGTATTTTGTAGAGACGGGGTTTCGCCATGTTGCCAGGCTGGTCTCGAACTCCTGAGCTCAGGCGATCTACTGACGTTGGCCTCCCAAAGTGTTGGGATCACAGGCATGAACCACCATGCCTGGCCAGGGCCTGTTCCTCTTTATGTGGTCTCTCTAGCAGGGTAGCTCAGGGCTTTCAAAAGTATAAAAGCAGAAGTCAGCAGGCCTTTTTAAGGCTTCGGCCTAGAATTGCCAGTGTCGCTTCATCCACATTCAGTTAGTTAAAGCAATCACAAGCCCAGCCCATTTCAAGGTGAAATTACTACAGAGGCATGAACACCATGAGGTGTCCATAGGGGGCCATCAGCATAACACACTGCCACATACATGCACTCACTTTTTTTCTTTAACCTAAAGTGAGATCCATCAGTAGTACAGGTAGTTGTTGGCAAAGCCTCTTGTTCGTTCCTTGTACTGAGACCCTAGTCTGCCACTGAGGATTTGGTTTTTGCCCTTCCAGTGTATACTCTGAAAGAGCGATGCCTCCAGGTTGTCCGGAGCCTAGTCAAGCCTGAGAATTACAGGAGACTGGACATCGTCAGGTCGCTCTACGAAGATCTGGAAGACCACCCAAATGTGCAGAAAGACCTGGAGCGGCTGACACAGGAGCGCATTGCACATCAACGGATGGGAGATTGAAGATTTCTGTTGAAACTTACACTGTTTCATCTCAGCTTTTGATGGTACTGATGAGTCTTGATCTAGATACAGGACTGGTTCCTTCCTTAGTTTCAAAGTGTCTCATTCTCAGAGTAAAATAGGCACCATTGCTTAAAAGAAAGTTAACTGACTTCACTAGGCATTGTGATGTTTAGGGGCAAACATCACAAAATGTAATTTAATGCCTGCCCATTAGAGAAGTATTTATCAGGAGAAGGTGGTGGCATTTTTGCTTCCTAGTAAGTCAGGACAGCTTGTATGTAAGGAGGTTTGTATAAGTAATTCAGTGGGAATTGCAGCATATCGTTTAATTTTAAGAAGGCATTGGCATCTGCTTTTAATGGATGTATAATACATCCATTCTACATCCGTAGCGGTTGGTGACTTGTCTGCCTCCTGCTTTGGGAAGACTGAGGCATCCGTGAGGCAGGGACAAGTCTTTCTCCTCTTTGAGACCCCAGTGCCTGCACATCATGAGCCTTCAGTCAGGGTTTGTCAGAGGAACAAACCAGGGGACACTTTGTTAGAAAGTGCTTAGAGGTTCTGCCTCTATTTTTGTTGGGGGGTGGGAGAGGGGACCTTAAAATGTGTACAGTGAACAAATGTCTTAAAGGGAATCATTTTTGTAGGAAGCATTTTTTATAATTTTCTAAGTCGTGCACTTTCTCGGTCCACTCTTGTTGAAGTGCTGTTTTATTACTGTTTCTAAACTAGGATTGACATTCTACAGTTGTGATAATAGCATTTTTGTAACTTGCCATCCGCACAGAAAATACGAGAAAATCTGCATGTTTGATTATAGTATTAATGGACAAATAAGTTTTTGCTAAATGTGAGTATTTCTGTTCCTTTTTGTAAATATGTGACATTCCTGATTGATTTGGGTTTTTTTGTTGTTGTTGTTTTGTTTTGTTTTGTTTTTTTGAGATGGAGTCTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCACGTAATCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCTGGCCAATTTTTGTACTTTTAGTAGAGACAGTGTTTCGTCATGTTGGCCAGGCTGGTTTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAATGGTGGGATTACAGGTGTGTGGGCCACCGTGCCTGGCTGATTCAGCATTTTTTATCAGGCAGGACCAGGTGGCACTTCCACCTCCAGCCTCTGGTCCTACCAATGGATTCATGGAGTAGCCTGGACTGTTTCATAGTTTTCTAAATGTACAAATTCTTATAGGCTAGACTTAGATTCATTAACTCAAATTCAATGCTTCTATCAGACTCAGTTTTTTGTAACTAATAGATTTTTTTTTCCACTTTTGTTCTACTCCTTCCCTAATAGCTTTTTAAAAAAATCTCCCCAGTAGAGAAACATTTGGAAAAGACAGAAAACTAAAAAGGAAGAAAAAAGATCCCTATTAGATACACTTCTTAAATACAATCACATTAACATTTTGAGCTATTTCCTTCCAGCCTTTTTAGGGCAGATTTTGGTTGGTTTTTACATAGTTGAGATTGTACTGTTCATACAGTTTTATACCCTTTTTCATTTAACTTTATAACTTAAATATTGCTCTATGTTAGTATAAGCTTTTCACAAACATTAGTATAGTCTCCCTTTTATAATTAATGTTTGTGGGTATTTCTTGGCATGCATCTTTAATTCCTTATCCTAGCCTTTGGGCACAATTCCTGTGCTCAAAAATGAGAGTGACGGCTGGCATGGTGGCTCCCGCCTGTAATCCCAGTACTTTGGAAAGCCAAGGTAAGAGGATTGCTTGAGCCCAGAACTTCAAGATGAGCCTGGGCTCATAGTGAGAACCCATCTATACAAAAAATTTTTAAAAATTAGCATGGCGGCACACATCTGTAATCCTAGCTACTTGGCAGGCTGAGGTGAGAAGATCATTGGAGTTTAGGAATTGGAGGCTGCAGTGAGCCATGAGTATGCCACTGCACTCCAGCCTGGGGGACAGAGCAAGACCCTGCCTCAAAAAAAAAAAAAAAAAAAAAATCAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATTTCTACTAAAAAATACAAGAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGAAGATTGCAGTGAGCTGATATCGCACCATTGTACTCCAGCCTGTGTGACAGAGCAATACTCTTGTCTCAAAAAAAAAAAAAAATTCAAATCAGAGTGAAGTGAATGAGACACTCCAGTTTTCCTTCTACTCCGAATTTCAACTGATTTTAGCTCCTCCTTTCAACATTCAACAAATAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTACAAGCTCTGCCTCCCGAGTTCAAGTGATTCTCCTGGCTCACCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTGTGTTTTTAGTGGAGACGGGGTTTCACCATGTTGTCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGTCCA", 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