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Running
| [ | |
| { | |
| "rs": "rs334", | |
| "gene": "HBB", | |
| "name": "HBB c.20A>T", | |
| "sig": "Pathogenic", | |
| "blurb": "sickle cell anemia \u00b7 p.Glu6Val", | |
| "chrom": "11", | |
| "pos": 5227002, | |
| "gene_strand": -1, | |
| "ref": "A", | |
| "alt": "T", | |
| "ref_window": "CAATGCTAATGCAGGTTTAAATTTAATAAAATAAAATCCAAAATCTAACAGCCAAGTCAAATCTGCATGTTTTAACATTTAAAATATTTTAAAGACGTCTTTTCCCAGGATTCAACATGTGAAATCTTTTCTCAGGGATACACGTGTGCCTAGATCCTCATTGCTTTAGTTTTTTACAGAGGAATGAATATAAAAAGAAAATACTTAAATTTTATCCCTCTTACCTCTATAATCATACATAGGCATAATTTTTTAACCTAGGCTCCAGATAGCCATAGAAGAACCAAACACTTTCTGCGTGTGTGAGAATAATCAGAGTGAGATTTTTTCACAAGTACCTGATGAGGGTTGAGACAGGTAGAAAAAGTGAGAGATCTCTATTTATTTAGCAATAATAGAGAAAGCATTTAAGAGAATAAAGCAATGGAAATAAGAAATTTGTAAATTTCCTTCTGATAACTAGAAATAGAGGATCCAGTTTCTTTTGGTTAACCTAAATTTTATTTCATTTTATTGTTTTATTTTATTTTATTTTATTTTATTTTGTGTAATCGTAGTTTCAGAGTGTTAGAGCTGAAAGGAAGAAGTAGGAGAAACATGCAAAGTAAAAGTATAACACTTTCCTTACTAAACCGACATGGGTTTCCAGGTAGGGGCAGGATTCAGGATGACTGACAGGGCCCTTAGGGAACACTGAGACCCTACGCTGACCTCATAAATGCTTGCTACCTTTGCTGTTTTAATTACATCTTTTAATAGCAGGAAGCAGAACTCTGCACTTCAAAAGTTTTTCCTCACCTGAGGAGTTAATTTAGTACAAGGGGAAAAAGTACAGGGGGATGGGAGAAAGGCGATCACGTTGGGAAGCTATAGAGAAAGAAGAGTAAATTTTAGTAAAGGAGGTTTAAACAAACAAAATATAAAGAGAAATAGGAACTTGAATCAAGGAAATGATTTTAAAACGCAGTATTCTTAGTGGACTAGAGGAAAAAAATAATCTGAGCCAAGTAGAAGACCTTTTCCCCTCCTACCCCTACTTTCTAAGTCACAGAGGCTTTTTGTTCCCCCAGACACTCTTGCAGATTAGTCCAGGCAGAAACAGTTAGATGTCCCCAGTTAACCTCCTATTTGACACCACTGATTACCCCATTGATAGTCACACTTTGGGTTGTAAGTGACTTTTTATTTATTTGTATTTTTGACTGCATTAAGAGGTCTCTAGTTTTTTATCTCTTGTTTCCCAAAACCTAATAAGTAACTAATGCACAGAGCACATTGATTTGTATTTATTCTATTTTTAGACATAATTTATTAGCATGCATGAGCAAATTAAGAAAAACAACAACAAATGAATGCATATATATGTATATGTATGTGTGTATATATACACACATATATATATATATTTTTTCTTTTCTTACCAGAAGGTTTTAATCCAAATAAGGAGAAGATATGCTTAGAACCGAGGTAGAGTTTTCATCCATTCTGTCCTGTAAGTATTTTGCATATTCTGGAGACGCAGGAAGAGATCCATCTACATATCCCAAAGCTGAATTATGGTAGACAAAACTCTTCCACTTTTAGTGCATCAACTTCTTATTTGTGTAATAAGAAAATTGGGAAAACGATCTTCAATATGCTTACCAAGCTGTGATTCCAAATATTACGTAAATACACTTGCAAAGGAGGATGTTTTTAGTAGCAATTTGTACTGATGGTATGGGGCCAAGAGATATATCTTAGAGGGAGGGCTGAGGGTTTGAAGTCCAACTCCTAAGCCAGTGCCAGAAGAGCCAAGGACAGGTACGGCTGTCATCACTTAGACCTCACCCTGTGGAGCCACACCCTAGGGTTGGCCAATCTACTCCCAGGAGCAGGGAGGGCAGGAGCCAGGGCTGGGCATAAAAGTCAGGGCAGAGCCATCTATTGCTTACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGTTGGTATCAAGGTTACAAGACAGGTTTAAGGAGACCAATAGAAACTGGGCATGTGGAGACAGAGAAGACTCTTGGGTTTCTGATAGGCACTGACTCTCTCTGCCTATTGGTCTATTTTCCCACCCTTAGGCTGCTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGATCTGTCCACTCCTGATGCTGTTATGGGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGACAACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGGTGAGTCTATGGGACGCTTGATGTTTTCTTTCCCCTTCTTTTCTATGGTTAAGTTCATGTCATAGGAAGGGGATAAGTAACAGGGTACAGTTTAGAATGGGAAACAGACGAATGATTGCATCAGTGTGGAAGTCTCAGGATCGTTTTAGTTTCTTTTATTTGCTGTTCATAACAATTGTTTTCTTTTGTTTAATTCTTGCTTTCTTTTTTTTTCTTCTCCGCAATTTTTACTATTATACTTAATGCCTTAACATTGTGTATAACAAAAGGAAATATCTCTGAGATACATTAAGTAACTTAAAAAAAAACTTTACACAGTCTGCCTAGTACATTACTATTTGGAATATATGTGTGCTTATTTGCATATTCATAATCTCCCTACTTTATTTTCTTTTATTTTTAATTGATACATAATCATTATACATATTTATGGGTTAAAGTGTAATGTTTTAATATGTGTACACATATTGACCAAATCAGGGTAATTTTGCATTTGTAATTTTAAAAAATGCTTTCTTCTTTTAATATACTTTTTTGTTTATCTTATTTCTAATACTTTCCCTAATCTCTTTCTTTCAGGGCAATAATGATACAATGTATCATGCCTCTTTGCACCATTCTAAAGAATAACAGTGATAATTTCTGGGTTAAGGCAATAGCAATATCTCTGCATATAAATATTTCTGCATATAAATTGTAACTGATGTAAGAGGTTTCATATTGCTAATAGCAGCTACAATCCAGCTACCATTCTGCTTTTATTTTATGGTTGGGATAAGGCTGGATTATTCTGAGTCCAAGCTAGGCCCTTTTGCTAATCATGTTCATACCTCTTATCTTCCTCCCACAGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTTCTTGCTGTCCAATTTCTATTAAAGGTTCCTTTGTTCCCTAAGTCCAACTACTAAACTGGGGGATATTATGAAGGGCCTTGAGCATCTGGATTCTGCCTAATAAAAAACATTTATTTTCATTGCAATGATGTATTTAAATTATTTCTGAATATTTTACTAAAAAGGGAATGTGGGAGGTCAGTGCATTTAAAACATAAAGAAATGAAGAGCTAGTTCAAACCTTGGGAAAATACACTATATCTTAAACTCCATGAAAGAAGGTGAGGCTGCAAACAGCTAATGCACATTGGCAACAGCCCCTGATGCATATGCCTTATTCATCCCTCAGAAAAGGATTCAAGTAGAGGCTTGATTTGGAGGTTAAAGTTTTGCTATGCTGTATTTTACATTACTTATTGTTTTAGCTGTCCTCATGAATGTCTTTTCACTACCCATTTGCTTATCCTGCATCTCTCAGCCTTGACTCCACTCAGTTCTCTTGCTTAGAGATACCACCTTTCCCCTGAAGTGTTCCTTCCATGTTTTACGGCGAGATGGTTTCTCCTCGCCTGGCCACTCAGCCTTAGTTGTCTCTGTTGTCTTATAGA", | |
| "var_offset": 2001, | |
| "score": { | |
| "ref_sum": -4462.873979840428, | |
| "alt_sum": -4498.444566078484, | |
| "ref_logprobs": [ | |
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| ], | |
| "n": 667, | |
| "delta": -35.57058623805642 | |
| } | |
| }, | |
| { | |
| "rs": "rs80359027", | |
| "gene": "BRCA2", | |
| "name": "BRCA2 c.7976G>T", | |
| "sig": "Pathogenic", | |
| "blurb": "hereditary breast/ovarian cancer \u00b7 missense", | |
| "chrom": "13", | |
| "pos": 32362693, | |
| "gene_strand": 1, | |
| "ref": "G", | |
| "alt": "T", | |
| "ref_window": "GTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGATTTTGGCCTTAGCAGCTGGAAGGATAGAGTTGTATGTAACTACTAGAATTGAGAAGACCAAAGATGGAGGGAAATGGAGAGTTTGGTTTTGGACATTTGAAGCTTGAGATGTAATAGTAGACAGCCAAGTGGAGATGTTAGGTAGGCAGTTGGATATGGAAGTCTATACACAGGTAAAGTATAGGCCAAATAAATCAATTCACAAGTCATCGGCATATAGATGGACTTGAAGGCCATGAAAAAGAGACTGAGAAAGAGCAGCCAGAAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGGTGGGAGCTTATGGAAGTTCTCTTTTGATTACTTCTGTTGTCTTAGTGCTAAGAGTATGAATGAGAAAGGAGGAGTTAGAGATTTGAGAACAGAGGGGACAGGATCAAAGAGAGCACCAAGACTAAGAAAGGCAGTTCTCAGGCGTGATTTCTAAAAAAATCTCTTTCATAAGAAAAATAATCTAAAATATAATTATTTAAAATCAAGGATCTCATTTTTCAGGAACAAATATGAGTTGAAATCATTCTGTTGACTGTTAAGTGGAATTTTTTGTTTTGTTTTTATATTTTGAGATAGGGTCTCACTCTTGTCCAGGCTGGAGTGCAGTGGCACTATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCAATCCTCCCACCACAGCCTCCTAAGTAGCTGGGACCACAGATGTGAGCTACCACTCTTGGCTGATTTTTTTTATTATTTTTTGTAGAGATGTGGGGGTCTCACTATGTTGCCTAGGCTGGTCTCAAACTTCTGGCCTCAAGCAATCCTCCTGCCTCAGCTTCCCAAAATGCTGGGAGTATAGGCATGAGCCACCATGCTCAGCAATGAAGTTTTTATCAGTATGATACTTTGATACATGTCAAATAATTTTCTGAAATTATATTGTAGATCATATGAACTCATAAAAACTTAATGATCTTGAACAATGTAGTTTTTGTACAGAGAATAGTTGTAGTTGTTGAATTCAGTATCATCCTATGTGGTTTTTATGATAATATTCTACTTTTATTTGTTCAGGGCTCTGTGTGACACTCCAGGTGTGGATCCAAAGCTTATTTCTAGAATTTGGGTTTATAATCACTATAGATGGATCATATGGAAACTGGCAGCTATGGAATGTGCCTTTCCTAAGGAATTTGCTAATAGATGCCTAAGCCCAGAAAGGGTGCTTCTTCAACTAAAATACAGGCAAGTTTAAAGCATTACATTACGTAATCATATACGGCAGTATGGTTAAGGTTTCTGTGTAGTCTGTGACTTCCATGTCAAAATGTTGCACAAGCCAGTTGTCAGTGACAGTTGCCATCCCACACTGCTGTTCTCCTGTCATCCCTAGCCCCCATTTAAGAGAGATCACACATTCATGCATTGCTTGCTTCCCTCTTTCCCCACCCCCTCCTTAACCTCTTGATGTATGAGAAGAATATGAGTTACTAATTTGATCCACTATTTGGGGATTGCTAATAAAGCATTTTTGCATTTTATTTTTTGCTTTTTAAAAATAATTGATATTTTAACAATATGAAACAATATATTCCTAGCTACAAAATTTTTAATTCTCAGTATTTCTTAGATAAATTCAGTTTTTATTCTCAGTTATTCAGTGACTTGTTTAAACAGTGGAATTCTAGAGTCACACTTCCTAAAATATGCATTTTTGTTTTCACTTTTAGATATGATACGGAAATTGATAGAAGCAGAAGATCGGCTATAAAAAAGATAATGGAAAGGGATGACACAGCTGCAAAAACACTTGTTCTCTGTGTTTCTGACATAATTTCATTGAGCGCAAATATATCTGAAACTTCTAGCAATAAAACTAGTAGTGCAGATACCCAAAAAGTGGCCATTATTGAACTTACAGATGGGTGGTATGCTGTTAAGGCCCAGTTAGATCCTCCCCTCTTAGCTGTCTTAAAGAATGGCAGACTGACAGTTGGTCAGAAGATTATTCTTCATGGAGCAGAACTGGTGGGCTCTCCTGATGCCTGTACACCTCTTGAAGCCCCAGAATCTCTTATGTTAAAGGTAAATTAATTTGCACTCTTGGTAAAAATCAGTCATTGATTCAGTTAAATTCTAGAAGTTTTACATTTAAATTTTAAATGCTTACTAAGGATGCTCAATTTCTTAGATGTACTGATAATTTTAGTATAAAAAGCATATTCTTCAGACAGTTAAAGTTTTTGTGCAGTTTTTGGGAGGTCCAGAGATCTTTCTTGAGCTTAAATAATGCATTTCCAATTAAAAAGCAAAATAAATTTGCACCATTTGATTTTGGTATCTGTAGCTTGCTGCCCTCTTGTTCTCATAGCTTTGCTTTGATCAGATCCCTATTCCACTCTGGATTAGAGAATTACATTTTAGTACTTTTCAAATATGTAATAGATACACTTTTTATCTCTATGTAGATTTTAAACTACATAACAGGACTCTTTGTCATATTGAATGGTCTGCAGTATTGCTATCTGAAATTACCGATAATATTGTACATTCAGATTCACTTAAGAGGTAACCTTGCAGAGAATTTACTTCTGTGGTATTCTGGATCACTCTAAAGAGAATGTTTTATAAATTAAACATTTTTAAGGTAAAGATATATTTTGTTTGGCATTAGTTCCATGTTGGATTGATTGCTTTTTACTGAAAGCATTCCATCAAGCTGAAACAGTCTTTTGTTTTATGTTGCTTAGAACATCAAGCTTGCAGTGGCTTTCATTTTCTTGTTTTTGTTTTTTTTTAAATCAAATCAATGCATGTGCATAATTTGGAAACTCAAGTAATATAAGACATATAACCAAAAAAAAGCAGTTGCTAGCACAACCCTCCCCATCCTCATTCATGGTCCCAAGAGGCAATCGTTTCCAGTCTGTTTGACTATTTTTTAGCTTGTACTGCTGTCTTCTTTCTCTCTTCAGTTTAGACAGCAACCGTTAACTTCCTGCTATGGAAAATGAGGATTTCATTGTCTTACTCCAACACTGCTACATATTTCTCTACCCTCTTCCCCATCTTCCCTCTACTAATACAGCATGATTTTTAGTGAAATCTGTATTCAGTGTATACATTATAATGACTGAAAAATATTTTTTGCAATTTAATACCTAATCGACTGTGATCACATTTCCTTTCTTTACAGCTTACTGCTTTCCATGAAGTTATTAACTGTCCTTTTCATTTCTCTTAATT", | |
| "var_offset": 2000, | |
| "score": { | |
| "ref_sum": -3841.3110568486154, | |
| "alt_sum": -3943.8759207464755, | |
| "ref_logprobs": [ | |
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| "n": 667, | |
| "delta": -102.56486389786005 | |
| } | |
| }, | |
| { | |
| "rs": "rs1057519981", | |
| "gene": "TP53", | |
| "name": "TP53 c.712T>A", | |
| "sig": "Pathogenic", | |
| "blurb": "Li-Fraumeni cancer \u00b7 missense", | |
| "chrom": "17", | |
| "pos": 7674251, | |
| "gene_strand": -1, | |
| "ref": "T", | |
| "alt": "A", | |
| "ref_window": "AATGGATGATTTGATGCTGTCCCCGGACGATATTGAACAATGGTTCACTGAAGACCCAGGTCCAGATGAAGCTCCCAGAATGCCAGAGGCTGCTCCCCCCGTGGCCCCTGCACCAGCAGCTCCTACACCGGCGGCCCCTGCACCAGCCCCCTCCTGGCCCCTGTCATCTTCTGTCCCTTCCCAGAAAACCTACCAGGGCAGCTACGGTTTCCGTCTGGGCTTCTTGCATTCTGGGACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGGGCTGGCTTCCATGAGACTTCAATGCCTGGCCGTATCCCCCTGCATTTCTTTTGTTTGGAACTTTGGGATTCCTCTTCACCCTTTGGCTTCCTGTCAGTGTTTTTTTATAGTTTACCCACTTAATGTGTGATCTCTGACTCCTGTCCCAAAGTTGAATATTCCCCCCTTGAATTTGGGCTTTTATCCATCCCATCACACCCTCAGCATCTCTCCTGGGGATGCAGAACTTTTCTTTTTCTTCATCCACGTGTATTCCTTGGCTTTTGAAAATAAGCTCCTGACCAGGCTTGGTGGCTCACACCTGCAATCCCAGCACTCTCAAAGAGGCCAAGGCAGGCAGATCACCTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATGATGAAACCTCGTCTCTACAAAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCACACCTATAGTCCCAGCCACTTAGGAGGCTGAGGTGGGAAGATCACTTGAGGCCAGGAGATGGAGGCTGCAGTGAGCTGTGATCACACCACTGTGCTCCAGCCTGAGTGACAGAGCAAGACCCTATCTCAAAAAAAAAAAAAAAAAAGAAAAGCTCCTGAGGTGTAGACGCCAACTCTCTCTAGCTCGCTAGTGGGTTGCAGGAGGTGCTTACGCATGTTTGTTTCTTTGCTGCCGTCTTCCAGTTGCTTTATCTGTTCACTTGTGCCCTGACTTTCAACTCTGTCTCCTTCCTCTTCCTACAGTACTCCCCTGCCCTCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTGTGCAGCTGTGGGTTGATTCCACACCCCCGCCCGGCACCCGCGTCCGCGCCATGGCCATCTACAAGCAGTCACAGCACATGACGGAGGTTGTGAGGCGCTGCCCCCACCATGAGCGCTGCTCAGATAGCGATGGTGAGCAGCTGGGGCTGGAGAGACGACAGGGCTGGTTGCCCAGGGTCCCCAGGCCTCTGATTCCTCACTGATTGCTCTTAGGTCTGGCCCCTCCTCAGCATCTTATCCGAGTGGAAGGAAATTTGCGTGTGGAGTATTTGGATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTATGAGCCGCCTGAGGTCTGGTTTGCAACTGGGGTCTCTGGGAGGAGGGGTTAAGGGTGGTTGTCAGTGGCCCTCCAGGTGAGCAGTAGGGGGGCTTTCTCCTGCTGCTTATTTGACCTCCCTATAACCCCATGAGATGTGCAAAGTAAATGGGTTTAACTATTGCACAGTTGAAAAAACTGAAGCTTACAGAGGCTAAGGGCCTCCCCTGCTTGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTTGGGAGATCGAGACCATCCTGGCTAACGGTGAAACCCCGTCTCTACTGAAAAATACAAAAAAAAATTAGCCGGGCGTGGTGCTGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATGGCGTGAACCTGGGCGGTGGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGATTCCATCTCAAAAAAAAAAAAAAAAGGCCTCCCCTGCTTGCCACAGGTCTCCCCAAGGCGCACTGGCCTCATCTTGGGCCTGTGTTATCTCCTAGGTTGGCTCTGACTGTACCACCATCCACTACAACTACATGTGTAACAGTTCCTGCATGGGCGGCATGAACCGGAGGCCCATCCTCACCATCATCACACTGGAAGACTCCAGGTCAGGAGCCACTTGCCACCCTGCACACTGGCCTGCTGTGCCCCAGCCTCTGCTTGCCTCTGACCCCTGGGCCCACCTCTTACCGATTTCTTCCATACTACTACCCATCCACCTCTCATCACATCCCCGGCGGGGAATCTCCTTACTGCTCCCACTCAGTTTTCTTTTCTCTGGCTTTGGGACCTCTTAACCTGTGGCTTCTCCTCCACCTACCTGGAGCTGGAGCTTAGGCTCCAGAAAGGACAAGGGTGGTTGGGAGTAGATGGAGCCTGGTTTTTTAAATGGGACAGGTAGGACCTGATTTCCTTACTGCCTCTTGCTTCTCTTTTCCTATCCTGAGTAGTGGTAATCTACTGGGACGGAACAGCTTTGAGGTGCGTGTTTGTGCCTGTCCTGGGAGAGACCGGCGCACAGAGGAAGAGAATCTCCGCAAGAAAGGGGAGCCTCACCACGAGCTGCCCCCAGGGAGCACTAAGCGAGGTAAGCAAGCAGGACAAGAAGCGGTGGAGGAGACCAAGGGTGCAGTTATGCCTCAGATTCACTTTTATCACCTTTCCTTGCCTCTTTCCTAGCACTGCCCAACAACACCAGCTCCTCTCCCCAGCCAAAGAAGAAACCACTGGATGGAGAATATTTCACCCTTCAGGTACTAAGTCTTGGGACCTCTTATCAAGTGGAAAGTTTCCAGTCTAACACTCAAAATGCCGTTTTCTTCTTGACTGTTTTACCTGCAATTGGGGCATTTGCCATCAGGGGGCAGTGATGCCTCAAAGACAATGGCTCCTGGTTGTAGCTAACTAACTTCAGAACACCAACTTATACCATAATATATATTTTAAAGGACCAGACCAGCTTTCAAAAAGAAAATTGTTAAAGAGAGCATGAAAATGGTTCTATGACTTTGCCTGATACAGATGCTACTTGACTTACGATGGTGTTACTTCCTGATAAACTCGTCGTAAGTTGAAAATATTGTAAGTTGAAAATGGATTTAATACACCTAATCTAAGGAACATCATAGCTTAGCCTAGCCTGCTTTTTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAACCTCCGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCCACTGAGTAGCTGGGATTACAGGCACCTGCCCCGACGCCCAGCTAATTTTTTGTTATTTATTTATTTTTTTTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTAGTCTCGAACTCCTGACCTTGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTGCCTAGCCTACTTTTATTTTATTTTTAATGGAGACAGCATCTTGCTCTGTTGCCCAGGCTGGATTACAGTGATGTGATCATAGCTCATTATACCCTCCTGGGCTCAAGCAATCCCCCTAACTCTGCCTCCCCAGTAGCTAGGACCACAGGCATACACCACCATACCCAGCTAATTTTTAAAATTTTTTGTAGATAGATAGAGTCTCACTATGTTGCCCAGGCTGGTCTCTAGCCTACTTTTTTGAGACAAGGTCTTGCTCTGTCACCCAGGCTGGATAGAGTGCAGTAGTGCAGTCACAGCTCACTGCAGCCTCCACCTCCCAGGCTCCATCCATCCTCCCAGCTCAGCCTCCCAAGTTGCTTCAACTACAGGCCTGCACCACCATGCCTGGCTAATTTTTATTTATTTATTTTTATTTTATTTTATTTTATTTTTTTGAGACTCAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTAGGACTACAAGCGCCTGCTACCAC", | |
| "var_offset": 2001, | |
| "score": { | |
| "ref_sum": -2986.8020409028977, | |
| "alt_sum": -3039.0267441496253, | |
| "ref_logprobs": [ | |
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| ], | |
| "n": 667, | |
| "delta": -52.224703246727586 | |
| } | |
| }, | |
| { | |
| "rs": "rs1603267420", | |
| "gene": "F9", | |
| "name": "F9 c.1186T>A", | |
| "sig": "Pathogenic", | |
| "blurb": "hemophilia B \u00b7 clotting factor missense", | |
| "chrom": "X", | |
| "pos": 139561871, | |
| "gene_strand": 1, | |
| "ref": "T", | |
| "alt": "A", | |
| "ref_window": "CCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGAGAGAGTGGAAAGAATGAATGAGCCCTGCTATTCCTCACTGCCTGGATGGCTATAAGCACAGCCCTTATGGAGGCCTTAGGTCTTGCTTCATAATATTCCAGTTTGAAAAGGGTTTGAAAAGACCTCCTAGAAAAATCAGTAGTTTTTCTCTTTTGAGTAACATGTAGCAAAAAAAATTTCATCATGTAGGTACAGGGAACACCCTAATAACTATTAATCTCAAGGAGTCAAGCCAGTGTGTTTCCTAATGTATCTGCTGTATCCCCATGAAGCAAATTTTGCCATCAGAGAAACTGACTCATGGGGAAAAAATCCAAGGACCTCAAATCACCAAAAGAAGCCATTCCTCAGATTTGCCTAAGCTTAAGCTTCCCTGTCTCTCATTGTGTGTTGCTTTCAATGCAGTTACATAAATGGCTTTTTTGTTTATGCACCAAAAACACTAATTCATCTGCAAAGCTCACATTTCCAGAAACATTCCATTTCTGCCAGCACCTAGAAGCCAATATTTTGCCTATTCCTGTAACCAGCACACATATTTATTTTTTTCTAGATCAAATGTATTATGCAGTAAGAGTCTTAATTTTGTTTTCACAGGTTGTTTTGAATGGTAAAGTTGATGCATTCTGTGGAGGCTCTATCGTTAATGAAAAATGGATTGTAACTGCTGCCCACTGTGTTGAAACTGGTGTTAAAATTACAGTTGTCGCAGGTAAATACACAGAAAGAATAATAATCTGCAGCACCACTAGCTCTTTAATATGATTGGTACACCATATTTTACTAAGGTCTAATAAAATTGTTGTTGAATAAATTGGGCTAAAGGCAGAAGGGTCATAATTTCAGAACCCACGTCGCACCGTCCTCCAAGCATCCATAGTTCTTTTGATATACCCCTATTATCACTCATTTCAGTGAGGTACAATTAGTTCTTGATGTAGCCATTTCCATACCAGAAGGCCTTCCCAAAAATCAGTGTCATGTCACCGATCCTTTTATCTCTGGTGCTTGGCACAACCTGTAGCAGGTCCTCAGAAAACAAACATTTGAATTAATGGCCAAATGAGTTTGTGCTCAAAAAAGGGGTGAGGATACTTGAAATTTGGAAAATCTAGGATAATTCATGACTAGTGGATTCATTATCACCAATGAAAGGCTTATAACAGCATGAGTGAACAGAACCATCTCTATGATAGTCCTGAATGGCTTTTTGGTCTGAAAAATATGCATTGGCTCTCATTACATTTAACCAAAATTATCACAATATAAGAATGAGATCTTTAACATTGCCAATTAGGTCAGTGGTCCCAAGTAGTCACTTAGAAAATCTGTGTATGTGAAATACTGTTTGTGACTTAAAATGAAATTTATTTTTAATAGGTGAACATAATATTGAGGAGACAGAACATACAGAGCAAAAGCGAAATGTGATTCGAATTATTCCTCACCACAACTACAATGCAGCTATTAATAAGTACAACCATGACATTGCCCTTCTGGAACTGGACGAACCCTTAGTGCTAAACAGCTACGTTACACCTATTTGCATTGCTGACAAGGAATACACGAACATCTTCCTCAAATTTGGATCTGGCTATGTAAGTGGCTGGGGAAGAGTCTTCCACAAAGGGAGATCAGCTTTAGTTCTTCAGTACCTTAGAGTTCCACTTGTTGACCGAGCCACATGTCTTCGATCTACAAAGTTCACCATCTATAACAACATGTTCTGTGCTGGCTTCCATGAAGGAGGTAGAGATTCATGTCAAGGAGATAGTGGGGGACCCCATGTTACTGAAGTGGAAGGGACCAGTTTCTTAACTGGAATTATTAGCTGGGGTGAAGAGTGTGCAATGAAAGGCAAATATGGAATATATACCAAGGTATCCCGGTATGTCAACTGGATTAAGGAAAAAACAAAGCTCACTTAATGAAAGATGGATTTCCAAGGTTAATTCATTGGAATTGAAAATTAACAGGGCCTCTCACTAACTAATCACTTTCCCATCTTTTGTTAGATTTGAATATATACATTCTATGATCATTGCTTTTTCTCTTTACAGGGGAGAATTTCATATTTTACCTGAGCAAATTGATTAGAAAATGGAACCACTAGAGGAATATAATGTGTTAGGAAATTACAGTCATTTCTAAGGGCCCAGCCCTTGACAAAATTGTGAAGTTAAATTCTCCACTCTGTCCATCAGATACTATGGTTCTCCACTATGGCAACTAACTCACTCAATTTTCCCTCCTTAGCAGCATTCCATCTTCCCGATCTTCTTTGCTTCTCCAACCAAAACATCAATGTTTATTAGTTCTGTATACAGTACAGGATCTTTGGTCTACTCTATCACAAGGCCAGTACCACACTCATGAAGAAAGAACACAGGAGTAGCTGAGAGGCTAAAACTCATCAAAAACACTACTCCTTTTCCTCTACCCTATTCCTCAATCTTTTACCTTTTCCAAATCCCAATCCCCAAATCAGTTTTTCTCTTTCTTACTCCCTCTCTCCCTTTTACCCTCCATGGTCGTTAAAGGAGAGATGGGGAGCATCATTCTGTTATACTTCTGTACACAGTTATACATGTCTATCAAACCCAGACTTGCTTCCGTAGTGGAGACTTGCTTTTCAGAACATAGGGATGAAGTAAGGTGCCTGAAAAGTTTGGGGGAAAAGTTTCTTTCAGAGAGTTAAGTTATTTTATATATATAATATATATATAAAATATATAATATACAATATAAATATATAGTGTGTGTGTATGCGTGTGTGTAGACACACACGCATACACACATATAATGGAAGCAATAAGCCATTCTAAGAGCTTGTATGGTTATGGAGGTCTGACTAGGCATGATTTCACGAAGGCAAGATTGGCATATCATTGTAACTAAAAAAGCTGACATTGACCCAGACATATTGTACTCTTTCTAAAAATAATAATAATAATGCTAACAGAAAGAAGAGAACCGTTCGTTTGCAATCTACAGCTAGTAGAGACTTTGAGGAAGAATTCAACAGTGTGTCTTCAGCAGTGTTCAGAGCCAAGCAAGAAGTTGAAGTTGCCTAGACCAGAGGACATAAGTATCATGTCTCCTTTAACTAGCATACCCCGAAGTGGAGAAGGGTGCAGCAGGCTCAAAGGCATAAGTCATTCCAATCAGCCAACTAAGTTGTCCTTTTCTGGTTTCGTGTTCACCATGGAACATTTTGATTATAGTTAATCCTTCTATCTTGAATCTTCTAGAGAGTTGCTGACCAACTGACGTATGTTTCCCTTTGTGAATTAATAAACTGGTGTTCTGGTTCATACCTTGGCTTTTTGTGGATTCCATTGATGTGAATCAGTCACCCTGTATTTGATGATGCATGGGACTACTGACAAAATCACTCTGACCCCGCCAAGCTGCTGCCTTCTCCTGCCCCAACCTCACCCCCAGCCAGGCCTCACTCTTGCTAGTTCCTTTAGTTCTTTTAGTCAATATATTTTTGTCTTCGCATATAAGTATAAATAAACATATTTTTAAATTTCTTGGCTGGGCCCAGTGGCTCACGCCTATAATCCCAGCACTTCTGGAGGCCAAGGTGGGCGGATCACCTGAGGTTAGGAGTTTCAGGCCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAACAATTAGCTGGGCTTGGTAATGTGCACCTATAATCCCAGCTACTGGGGAGGCTGAGGCAGG", | |
| "var_offset": 2000, | |
| "score": { | |
| "ref_sum": -3939.030528035015, | |
| "alt_sum": -4036.175023339689, | |
| "ref_logprobs": [ | |
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| ], | |
| "n": 667, | |
| "delta": -97.14449530467391 | |
| } | |
| }, | |
| { | |
| "rs": "rs112029328", | |
| "gene": "LDLR", | |
| "name": "LDLR c.313+1G>T", | |
| "sig": "Pathogenic", | |
| "blurb": "familial high cholesterol \u00b7 splice donor lost", | |
| "chrom": "19", | |
| "pos": 11102787, | |
| "gene_strand": 1, | |
| "ref": "G", | |
| "alt": "T", | |
| "ref_window": "GAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACC", | |
| "var_offset": 2000, | |
| "score": { | |
| "ref_sum": -2590.6887281537056, | |
| "alt_sum": -2612.569163888693, | |
| "ref_logprobs": [ | |
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| ], | |
| "n": 667, | |
| "delta": -21.88043573498726 | |
| } | |
| }, | |
| { | |
| "rs": "rs1575932011", | |
| "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": "AGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCCAAATACATGGGTTTCATAGGATTCAAACTACTATGTGTGTATAGATCCTGTTTTAAGGAAGTAGATATATAAAAATGAGCATTGCTAAGTTAAATTTGGTAAATTTGCCTTATAGAATACCCTCGAGTACGTTTCCAGTGAGTGTAAAATAGGAATTGGGATACCCAATTCAGTTGTACTAGATTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGATTTTCTAAGTACACATTGTTTTGGTTATGTGTTTTGTGACTACCACCCCAAAACTAATAACCACCTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCGTGTGATCTTGGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCAGCTGGGACTACAGGTGTGCACCACCAAGCCTGGCTAATTTTTTGCATTTTAGTGGAGACGGGGGTTTCACCATGTTGACCAGGCTGATCTTGAACTCTTGAGCTCAGGCAGTCTGCCTGCCTCAGCCTCCTAAAGTGCTAGGATTACAGGCGTGAGCCACTGCGCCCAGCCCACCATTTTATTTGTTCATAATTCTGTAGTCCAGGCTGGGCTCAGCTAGGCAGTTACTCTGCTGGTGGTAGTCGTTGGTGTGGCTGCCTTTTGCTGGCAGCTGGGGGCTGGGCCTGTCCCTCTTTTTTTTTTTTCTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCTTAGCTCACTGCAACCTCTGCCTCCAGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCCAGTCGCTGGGACCACAGGCATGTGCCACCATGCCTGGCTAATTTTTTGTGTATTTTGTAGAGACGGGGTTTCGCCATGTTGCCAGGCTGGTCTCGAACTCCTGAGCTCAGGCGATCTACTGACGTTGGCCTCCCAAAGTGTTGGGATCACAGGCATGAACCACCATGCCTGGCCAGGGCCTGTTCCTCTTTATGTGGTCTCTCTAGCAGGGTAGCTCAGGGCTTTCAAAAGTATAAAAGCAGAAGTCAGCAGGCCTTTTTAAGGCTTCGGCCTAGAATTGCCAGTGTCGCTTCATCCACATTCAGTTAGTTAAAGCAATCACAAGCCCAGCCCATTTCAAGGTGAAATTACTACAGAGGCATGAACACCATGAGGTGTCCATAGGGGGCCATCAGCATAACACACTGCCACATACATGCACTCACTTTTTTTCTTTAACCTAAAGTGAGATCCATCAGTAGTACAGGTAGTTGTTGGCAAAGCCTCTTGTTCGTTCCTTGTACTGAGACCCTAGTCTGCCACTGAGGATTTGGTTTTTGCCCTTCCAGTGTATACTCTGAAAGAGCGATGCCTCCAGGTTGTCCGGAGCCTAGTCAAGCCTGAGAATTACAGGAGACTGGACATCGTCAGGTCGCTCTACGAAGATCTGGAAGACCACCCAAATGTGCAGAAAGACCTGGAGCGGCTGACACAGGAGCGCATTGCACATCAACGGATGGGAGATTGAAGATTTCTGTTGAAACTTACACTGTTTCATCTCAGCTTTTGATGGTACTGATGAGTCTTGATCTAGATACAGGACTGGTTCCTTCCTTAGTTTCAAAGTGTCTCATTCTCAGAGTAAAATAGGCACCATTGCTTAAAAGAAAGTTAACTGACTTCACTAGGCATTGTGATGTTTAGGGGCAAACATCACAAAATGTAATTTAATGCCTGCCCATTAGAGAAGTATTTATCAGGAGAAGGTGGTGGCATTTTTGCTTCCTAGTAAGTCAGGACAGCTTGTATGTAAGGAGGTTTGTATAAGTAATTCAGTGGGAATTGCAGCATATCGTTTAATTTTAAGAAGGCATTGGCATCTGCTTTTAATGGATGTATAATACATCCATTCTACATCCGTAGCGGTTGGTGACTTGTCTGCCTCCTGCTTTGGGAAGACTGAGGCATCCGTGAGGCAGGGACAAGTCTTTCTCCTCTTTGAGACCCCAGTGCCTGCACATCATGAGCCTTCAGTCAGGGTTTGTCAGAGGAACAAACCAGGGGACACTTTGTTAGAAAGTGCTTAGAGGTTCTGCCTCTATTTTTGTTGGGGGGTGGGAGAGGGGACCTTAAAATGTGTACAGTGAACAAATGTCTTAAAGGGAATCATTTTTGTAGGAAGCATTTTTTATAATTTTCTAAGTCGTGCACTTTCTCGGTCCACTCTTGTTGAAGTGCTGTTTTATTACTGTTTCTAAACTAGGATTGACATTCTACAGTTGTGATAATAGCATTTTTGTAACTTGCCATCCGCACAGAAAATACGAGAAAATCTGCATGTTTGATTATAGTATTAATGGACAAATAAGTTTTTGCTAAATGTGAGTATTTCTGTTCCTTTTTGTAAATATGTGACATTCCTGATTGATTTGGGTTTTTTTGTTGTTGTTGTTTTGTTTTGTTTTGTTTTTTTGAGATGGAGTCTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCACGTAATCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCTGGCCAATTTTTGTACTTTTAGTAGAGACAGTGTTTCGTCATGTTGGCCAGGCTGGTTTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAATGGTGGGATTACAGGTGTGTGGGCCACCGTGCCTGGCTGATTCAGCATTTTTTATCAGGCAGGACCAGGTGGCACTTCCACCTCCAGCCTCTGGTCCTACCAATGGATTCATGGAGTAGCCTGGACTGTTTCATAGTTTTCTAAATGTACAAATTCTTATAGGCTAGACTTAGATTCATTAACTCAAATTCAATGCTTCTATCAGACTCAGTTTTTTGTAACTAATAGATTTTTTTTTCCACTTTTGTTCTACTCCTTCCCTAATAGCTTTTTAAAAAAATCTCCCCAGTAGAGAAACATTTGGAAAAGACAGAAAACTAAAAAGGAAGAAAAAAGATCCCTATTAGATACACTTCTTAAATACAATCACATTAACATTTTGAGCTATTTCCTTCCAGCCTTTTTAGGGCAGATTTTGGTTGGTTTTTACATAGTTGAGATTGTACTGTTCATACAGTTTTATACCCTTTTTCATTTAACTTTATAACTTAAATATTGCTCTATGTTAGTATAAGCTTTTCACAAACATTAGTATAGTCTCCCTTTTATAATTAATGTTTGTGGGTATTTCTTGGCATGCATCTTTAATTCCTTATCCTAGCCTTTGGGCACAATTCCTGTGCTCAAAAATGAGAGTGACGGCTGGCATGGTGGCT", | |
| "var_offset": 2000, | |
| "score": { | |
| "ref_sum": -3204.1583453183994, | |
| "alt_sum": -3526.965794316493, | |
| "ref_logprobs": [ | |
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| ], | |
| "n": 667, | |
| "delta": -322.8074489980936 | |
| } | |
| }, | |
| { | |
| "rs": "rs34637584", | |
| "gene": "LRRK2", | |
| "name": "LRRK2 c.6055G>A", | |
| "sig": "Risk", | |
| "blurb": "Parkinson's \u00b7 G2019S kinase variant", | |
| "chrom": "12", | |
| "pos": 40340400, | |
| "gene_strand": 1, | |
| "ref": "G", | |
| "alt": "A", | |
| "ref_window": "AGCTATGAAGAAAGAAGTCTCTTAGCAACTCTTACAATAATCACAATCAAAGAATGACTGTTTAACTTAATATAAACCAGTTTGTTTTAATAAAATATTTGACAATAGTCATGGTTACACAATGCATAAATTATGGCTAAATTATTATCAGGAAGGAAAAATCTTTACTTATTATTTCAAAAGCTATTTTGCTAGTCTATTAAAAGCTATTAGAACTGCACTTCTTAAGATTAAATTCTATAATTGAACATTTTAACTAACCAAGATATTATCTCTTTGCCACTGACATTATTTCAAATTAAGCTTAACTATTTCTTTTTAGCCTTTGGAAAGTATTCTGAAAGAGTCTGTGTTCTATAAATATACTTAAAGAGGCATGTCTTATAAAGGATTTGGATACTATTCAATGATGTATGACTTGGCTTTAGCTTTTTTATTCTTAATCTCTCAGCTTTTCTCTTCAGCAGGGGAAGAGTACCTAATGGCCTTTCAGTAATCCCTTGGTAAATTTTTCTTTCAAGCCCATTACTTACTGTGAAGGTCAACTTCATTAGTGTATTTATCTTATTTTTTTCAGCCCAAAATAGGTATATTGAAATGAATGGGCCTAATGTCAAATGTCCCGACTACATCCTGGAAGAGAGAGAATCTTCAGCTGTATTAGTTGATGCAGTTAAATAATATGTACTCTCCAGGCCCTCATACAATTGAAAGTTCAGGGTATCGTTGCTGCTCTGCTTCTAATCCTTCCAGAAGTGATTGGTGCTAGGTGATGGAGTAACTATTAATTGATATAATGTGAGCCAAAACCAACAGTCACGAATAAGCAAAGGATTTAAATTTAACTCCATTAAGTCTTGTGAGAAATTATTTTCAACATAGGTTATAACATACCTGTGACATCACATGAAATGCTGTAGTCAATTTGACATCATGGGGCAGAGAAGACAGAGTTGGAAATCAGAATTTTATAGACATCTAATGTGATAATAACATTAGTAGCTGAGATGCGGTAAGCTCTTTGACCATGTTTCCAGAATGGATAAGACCTGGTTGAGATGAAAACTTTACACTGTTTTTTTATATTAACTATCTTTTACTCTTTGCCTGAAATGTCCAACTCTAGTTGCTCGTGATTGCGTGGGTCAGTCTCCAGAAGGTTGGACTTTAATATTACCCGTCATCTTTTCCAAGACAAAATTGTATTCATTCTAACTCTTAGCCCCAAATTTTCTTTTTTAACCTTAATATCTAACATGATTAGGTTTATGGTAAATTATATACTCAAACAGAAGAAGAGACTAATAGCAAGCAAAAGTCTTATATTTTCATTTGTTTTCATCCAAAAAGTAGAAAATATTTTCCAAACATTGGGAAACATTTTAGTCAGAAAAATAAATATCAATGATAAATAGAATAGAGAAAAATTTTAAAGCTGAGCTAAACCTCTATGTGGTTTTAGGAAAATCAAAACTATTAAATAAATGGCAAGTACAACAAAATCCCATCAATTCTTATTTAACATACTTACATTTTGAAATAGTTAAAATATTCATATGATCATTGAGAGAATTCAGAATTGCCTTTAAGTAATTGTTCACATATACAAAAGAAAAGTCTCCAAAAATTGGGTCTTTGCCTGAGATAGATTTGTCTTAAAATTGAAATCATTCACTTATCAGATTTGACCCTTTTTTAAAGCATAACTTTGCTGTGTAATATTAGACTTATATGTTTTGATTTCCTTCTACAATATCTCTTAACTTTAAGGGACAAAGTGAGCACAGAATTTTTGATGCTTGACATAGTGGACATTTATATTTAAGGAAATTAGGACAAAAATTATTATAATGTAATCACATTTGAATAAGATTTCCTGTGCATTTTCTGGCAGATACCTCCACTCAGCCATGATTATATACCGAGACCTGAAACCCCACAATGTGCTGCTTTTCACACTGTATCCCAATGCTGCCATCATTGCAAAGATTGCTGACTACGGCATTGCTCAGTACTGCTGTAGAATGGGGATAAAAACATCAGAGGGCACACCAGGTAGGTGATCAGGTCTGTCTCATAATTCTATCTTCAGGATGGATAACCACTGACCTCAGATGTGAGTTCAGAAGAGTCAAAAGGAAAACAGAGTCTATCACATTGTGAACAGAGGTTTATTTTGTGAAAAAATGCAAGCATCACATTGTGATTTTTATCATTGTATTTTGTAGGAAAAAAACAATTGATGTAATTTTTCAGGGCAAAAACTGAATAAAAAGAAGAGAATGTTTGATATCAAGTTATATGTTTTAAAGTTAGATTTGTAGATTCTTTAGATACTCTAGAGGTCATAAAAAGTAACAGCAAAAACTTTAGTCTAGGTATTGTTGGCACTTGTGAGGCAAATCAAATTCAGGTCCACAAATTCTTTTTCATAATTCTGAAACCCAAAGAACTCTGAAAATCCCAAGATTTTTTAAAAAATGACTAATTTGGTGTCAAAACCTAAGCAAGCTGACTTGTTGCTTATTACAATCTTTATTTCTCATGCTCAGTGTGAATATGCATACATTTTGCTGCAGAAATATATACATGTTTGAGTACAGGGGGCTGGCCGTGACCCTACTGAGGGTTTCTGTACACATCACTGTCTACCCTGTGGAATCTTACCTCCCTTTCTTAGTTCCCAATCCTGAAAAGCAGTTATGGGGCCAGTGCTCTGTACAGACATGTTGTCTCAGACATCAGTTTGAGCAGGAAGTAAATCATTTAGGGGTTGGCATTTGTTTGGAGTGTGGGGAACACTCTATCTTTAGGGAAACTTTATATAGTTAGTTATTTGTAAGTAAAATTACAGGTGGCTATACATCATCTTGCTGATTGCAACTCAATTAAATCACCGTGCCTGGCACAGAAGAAAATATGCTACAGGATATCTCACTAGGGAAAAGGTTCTAGTTCGTTTCCTGCGCACTCAACTTTTGTACTTAGATAAGCAAATGGCCCCAGATTCCAATGCCTGGTTTTATTTTTGCTCCAAATACATATATACTCTTTTGTTTTGGATAGTTACATTTTAGAAGTAGACTGTGTATTCTCATAAACACTTCAAAGTGTATGTTCTGGCTGAGAGTGTCTCTGTGTTGTTCAATAATAATAAGACTAATTATCATTTTTTGAGTACCTGCTGTGCGTCAGGCCCAGTGCCACGTATATTAGAGACAAGATCTCTTATCCTCATGCCAGGGCTGGAAGTTAGCTATTAGTTTCTCATTTGCCAAATGAGAAAACTGAGGCTCAGGGAGATTATGTAACTTGCAGAATATCACTCAGTAATTGGCCAAGATAAGAATTCAGTCTAAATGAGAACCAGATCCAGAGATATTTGGCTTTAAATTCTATAGTCTCTCCTAAACCATATGCAACTCTAACATGAAGAAGCTTATTTAATCTTCACTATTAAAAAAGTCAAAACAAAACAACAGAGCCATGAATAGCAAATATTGTCAATGAGAGGTTTGGAAAAACAGTCTTAAAGGATGAAATTCCATAGACCTGATATATTTCCACCTGGAAAAAGTGGGCATGGGACAGTGATTTTCTCTTGAAAGATCTGCTCATTTTTGTCATGGGACATGAAGGTGGACTGGACCACTCAGTTTCTTCTTTCTGCATCTCCCAACCCAGTCTTTCTGTTCATGGGGTGAAAATCTGTTGTTGAAGCCTTGTCTGCTTAATTGGACAGTGGATCTCTCGGGTCCCTGTGGGCTGTGCGCTTGTACTTGAGCTCTGCTTCTTCACTCTGTGGTCTAGGCCAGCTAGCAGCCAGCTGAGTTCACCTTGGTTCAGACTCATGGCCTTTCATTTTCAGTATCTGACTTCCTGGTTTTGCTGAAAACCTGTCTAAAATGTAATATCCATCTGATTCTTCATACCAAGCCACACAATTCTTCCTGATCCCTTTTAATCTCCAATATTGAATGGTGGTAACATAAATATGGAGAC", | |
| "var_offset": 2000, | |
| "score": { | |
| "ref_sum": -5058.889239281416, | |
| "alt_sum": -5073.183950722218, | |
| "ref_logprobs": [ | |
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| ], | |
| "n": 667, | |
| "delta": -14.29471144080162 | |
| } | |
| }, | |
| { | |
| "rs": "rs182781943", | |
| "gene": "VHL", | |
| "name": "VHL c.*820A>G", | |
| "sig": "Benign", | |
| "blurb": "common 3' UTR variant \u00b7 same gene as row above", | |
| "chrom": "3", | |
| "pos": 10150785, | |
| "gene_strand": 1, | |
| "ref": "A", | |
| "alt": "G", | |
| "ref_window": "ATTCTCCTGCTTCAGCAGCTGGGACTACAGGTGTGCACCACCAAGCCTGGCTAATTTTTTGCATTTTAGTGGAGACGGGGGTTTCACCATGTTGACCAGGCTGATCTTGAACTCTTGAGCTCAGGCAGTCTGCCTGCCTCAGCCTCCTAAAGTGCTAGGATTACAGGCGTGAGCCACTGCGCCCAGCCCACCATTTTATTTGTTCATAATTCTGTAGTCCAGGCTGGGCTCAGCTAGGCAGTTACTCTGCTGGTGGTAGTCGTTGGTGTGGCTGCCTTTTGCTGGCAGCTGGGGGCTGGGCCTGTCCCTCTTTTTTTTTTTTCTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCTTAGCTCACTGCAACCTCTGCCTCCAGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCCAGTCGCTGGGACCACAGGCATGTGCCACCATGCCTGGCTAATTTTTTGTGTATTTTGTAGAGACGGGGTTTCGCCATGTTGCCAGGCTGGTCTCGAACTCCTGAGCTCAGGCGATCTACTGACGTTGGCCTCCCAAAGTGTTGGGATCACAGGCATGAACCACCATGCCTGGCCAGGGCCTGTTCCTCTTTATGTGGTCTCTCTAGCAGGGTAGCTCAGGGCTTTCAAAAGTATAAAAGCAGAAGTCAGCAGGCCTTTTTAAGGCTTCGGCCTAGAATTGCCAGTGTCGCTTCATCCACATTCAGTTAGTTAAAGCAATCACAAGCCCAGCCCATTTCAAGGTGAAATTACTACAGAGGCATGAACACCATGAGGTGTCCATAGGGGGCCATCAGCATAACACACTGCCACATACATGCACTCACTTTTTTTCTTTAACCTAAAGTGAGATCCATCAGTAGTACAGGTAGTTGTTGGCAAAGCCTCTTGTTCGTTCCTTGTACTGAGACCCTAGTCTGCCACTGAGGATTTGGTTTTTGCCCTTCCAGTGTATACTCTGAAAGAGCGATGCCTCCAGGTTGTCCGGAGCCTAGTCAAGCCTGAGAATTACAGGAGACTGGACATCGTCAGGTCGCTCTACGAAGATCTGGAAGACCACCCAAATGTGCAGAAAGACCTGGAGCGGCTGACACAGGAGCGCATTGCACATCAACGGATGGGAGATTGAAGATTTCTGTTGAAACTTACACTGTTTCATCTCAGCTTTTGATGGTACTGATGAGTCTTGATCTAGATACAGGACTGGTTCCTTCCTTAGTTTCAAAGTGTCTCATTCTCAGAGTAAAATAGGCACCATTGCTTAAAAGAAAGTTAACTGACTTCACTAGGCATTGTGATGTTTAGGGGCAAACATCACAAAATGTAATTTAATGCCTGCCCATTAGAGAAGTATTTATCAGGAGAAGGTGGTGGCATTTTTGCTTCCTAGTAAGTCAGGACAGCTTGTATGTAAGGAGGTTTGTATAAGTAATTCAGTGGGAATTGCAGCATATCGTTTAATTTTAAGAAGGCATTGGCATCTGCTTTTAATGGATGTATAATACATCCATTCTACATCCGTAGCGGTTGGTGACTTGTCTGCCTCCTGCTTTGGGAAGACTGAGGCATCCGTGAGGCAGGGACAAGTCTTTCTCCTCTTTGAGACCCCAGTGCCTGCACATCATGAGCCTTCAGTCAGGGTTTGTCAGAGGAACAAACCAGGGGACACTTTGTTAGAAAGTGCTTAGAGGTTCTGCCTCTATTTTTGTTGGGGGGTGGGAGAGGGGACCTTAAAATGTGTACAGTGAACAAATGTCTTAAAGGGAATCATTTTTGTAGGAAGCATTTTTTATAATTTTCTAAGTCGTGCACTTTCTCGGTCCACTCTTGTTGAAGTGCTGTTTTATTACTGTTTCTAAACTAGGATTGACATTCTACAGTTGTGATAATAGCATTTTTGTAACTTGCCATCCGCACAGAAAATACGAGAAAATCTGCATGTTTGATTATAGTATTAATGGACAAATAAGTTTTTGCTAAATGTGAGTATTTCTGTTCCTTTTTGTAAATATGTGACATTCCTGATTGATTTGGGTTTTTTTGTTGTTGTTGTTTTGTTTTGTTTTGTTTTTTTGAGATGGAGTCTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCACGTAATCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCTGGCCAATTTTTGTACTTTTAGTAGAGACAGTGTTTCGTCATGTTGGCCAGGCTGGTTTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAATGGTGGGATTACAGGTGTGTGGGCCACCGTGCCTGGCTGATTCAGCATTTTTTATCAGGCAGGACCAGGTGGCACTTCCACCTCCAGCCTCTGGTCCTACCAATGGATTCATGGAGTAGCCTGGACTGTTTCATAGTTTTCTAAATGTACAAATTCTTATAGGCTAGACTTAGATTCATTAACTCAAATTCAATGCTTCTATCAGACTCAGTTTTTTGTAACTAATAGATTTTTTTTTCCACTTTTGTTCTACTCCTTCCCTAATAGCTTTTTAAAAAAATCTCCCCAGTAGAGAAACATTTGGAAAAGACAGAAAACTAAAAAGGAAGAAAAAAGATCCCTATTAGATACACTTCTTAAATACAATCACATTAACATTTTGAGCTATTTCCTTCCAGCCTTTTTAGGGCAGATTTTGGTTGGTTTTTACATAGTTGAGATTGTACTGTTCATACAGTTTTATACCCTTTTTCATTTAACTTTATAACTTAAATATTGCTCTATGTTAGTATAAGCTTTTCACAAACATTAGTATAGTCTCCCTTTTATAATTAATGTTTGTGGGTATTTCTTGGCATGCATCTTTAATTCCTTATCCTAGCCTTTGGGCACAATTCCTGTGCTCAAAAATGAGAGTGACGGCTGGCATGGTGGCTCCCGCCTGTAATCCCAGTACTTTGGAAAGCCAAGGTAAGAGGATTGCTTGAGCCCAGAACTTCAAGATGAGCCTGGGCTCATAGTGAGAACCCATCTATACAAAAAATTTTTAAAAATTAGCATGGCGGCACACATCTGTAATCCTAGCTACTTGGCAGGCTGAGGTGAGAAGATCATTGGAGTTTAGGAATTGGAGGCTGCAGTGAGCCATGAGTATGCCACTGCACTCCAGCCTGGGGGACAGAGCAAGACCCTGCCTCAAAAAAAAAAAAAAAAAAAAAATCAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATTTCTACTAAAAAATACAAGAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGAAGATTGCAGTGAGCTGATATCGCACCATTGTACTCCAGCCTGTGTGACAGAGCAATACTCTTGTCTCAAAAAAAAAAAAAAATTCAAATCAGAGTGAAGTGAATGAGACACTCCAGTTTTCCTTCTACTCCGAATTTCAACTGATTTTAGCTCCTCCTTTCAACATTCAACAAATAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTACAAGCTCTGCCTCCCGAGTTCAAGTGATTCTCCTGGCTCACCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTGTGTTTTTAGTGGAGACGGGGTTTCACCATGTTGTCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGTCCA", | |
| "var_offset": 2000, | |
| "score": { | |
| "ref_sum": -3142.8467951267958, | |
| "alt_sum": -3142.5804411917925, | |
| "ref_logprobs": [ | |
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| } | |
| } | |
| ] |