ID stringlengths 13 17 | question stringlengths 88 1.13k | answer stringlengths 6 156 | reference_sequence stringlengths 4.1k 4.1k | variant_sequence stringlengths 4.1k 4.1k |
|---|---|---|---|---|
Task1_train_24600 | This sequence variant lies in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Pancreatic cancer, susceptibility to, 4 | AATTTTAAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAG | AATTTTAAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACTTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAG 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Task1_train_24601 | A mutation found in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Fanconi anemia, complementation group S | AATTTTAAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAG | AATTTTAAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACTTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAG 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Task1_train_24602 | A variant affecting Chromosome 17, within the gene BRCA1 (BRCA1 DNA repair associated), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | ATTTTAAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGA 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ATTTTAAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCCTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGA 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Task1_train_24603 | This variant affects the gene BRCA1 (BRCA1 DNA repair associated) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hereditary cancer-predisposing syndrome | AATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTG 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AATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTAGATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTG 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Task1_train_24604 | A mutation on Chromosome 17 affecting BRCA1 (BRCA1 DNA repair associated) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hereditary breast ovarian cancer syndrome | AATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTG 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AATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTAGATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTG 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Task1_train_24605 | This variant lies on Chromosome 17 and affects the gene BRCA1 (BRCA1 DNA repair associated). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; BRCA1-related cancer predisposition | AATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTG 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AATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTATATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTG 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Task1_train_24606 | Consider a variant on Chromosome 17 in gene BRCA1 (BRCA1 DNA repair associated). Determine its clinical classification and disease relevance. | Pathogenic; Hereditary breast ovarian cancer syndrome | ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGA 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ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACCTAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGA 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Task1_train_24607 | A mutation found in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Hereditary cancer-predisposing syndrome | ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGA 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ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACCTAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGA 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Task1_train_24608 | Here is a genetic alteration in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGA 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ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACCTAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGA 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Task1_train_24609 | The following genetic variant occurs in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hereditary cancer-predisposing syndrome | ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGA 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ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACGTAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGA 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Task1_train_24610 | Given a variant located on Chromosome 17 and affecting BRCA1 (BRCA1 DNA repair associated), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Hereditary breast ovarian cancer syndrome | ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGA 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ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACGTAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGA 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Task1_train_24611 | Gene BRCA1 (BRCA1 DNA repair associated), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Familial cancer of breast | ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGA 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ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACGTAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGA 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Task1_train_24612 | This genomic variant is located on Chromosome 17, within the BRCA1 (BRCA1 DNA repair associated) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGA 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ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACGTAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGA 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Task1_train_24613 | Mutation context: Chromosome 17, Gene BRCA1 (BRCA1 DNA repair associated). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Hereditary breast ovarian cancer syndrome | CCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCTGT 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CCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGATACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCTGT 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Task1_train_24614 | Here is a variant affecting BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hereditary cancer-predisposing syndrome | CCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCTGT | CCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGATACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCTGT 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Task1_train_24615 | Assess the clinical impact of this variant on gene BRCA1 (BRCA1 DNA repair associated), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | CCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCTGT 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CCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGATACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCTGT 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Task1_train_24616 | This variant impacts the gene BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | CTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCTGTC | CTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACCCTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCTGTC |
Task1_train_24617 | This variant affects the gene BRCA1 (BRCA1 DNA repair associated) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | CTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCTGTC | CTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACTCTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCTGTC 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Task1_train_24618 | A mutation on Chromosome 17 affecting BRCA1 (BRCA1 DNA repair associated) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | AGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAACAAAATTAGCCAGGCGTGGTGGGCA 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AGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGTAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAACAAAATTAGCCAGGCGTGGTGGGCA 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Task1_train_24619 | Mutation context: Chromosome 17, Gene BRCA1 (BRCA1 DNA repair associated). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | GAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAACAAAATTAGCCAGGCGTGGTGGGCAC 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GAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCTAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAACAAAATTAGCCAGGCGTGGTGGGCAC 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Task1_train_24620 | A genetic alteration is present in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | TTTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAA | TTTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGAAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAA 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Task1_train_24621 | Gene BRCA1 (BRCA1 DNA repair associated) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | TTTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAA 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TTTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGTAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAA 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Task1_train_24622 | The gene BRCA1 (BRCA1 DNA repair associated) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hereditary breast ovarian cancer syndrome | TTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAAT | TTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCGAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAAT 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Task1_train_24623 | This is a variant in BRCA1 (BRCA1 DNA repair associated), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | TTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAAT 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TTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCTAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAAT 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Task1_train_24624 | This variant affects the gene BRCA1 (BRCA1 DNA repair associated) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | TTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAATACATCACC 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TTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGCGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAATACATCACC 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Task1_train_24625 | A variant was discovered in gene BRCA1 (BRCA1 DNA repair associated), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | CGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAATACATCACCCAAGT 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CGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCCCACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAATACATCACCCAAGT 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Task1_train_24626 | This variant affects gene BRCA1 (BRCA1 DNA repair associated) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Hereditary breast ovarian cancer syndrome | CGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAATACATCACCCAAGT | CGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCCCACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAATACATCACCCAAGT 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Task1_train_24627 | An alteration has been detected in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hereditary cancer-predisposing syndrome | GTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAATACATCACCCAAGTT 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GTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCATACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAATACATCACCCAAGTT 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Task1_train_24628 | Here’s a variant in BRCA1 (BRCA1 DNA repair associated) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Breast neoplasm | GTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAATACATCACCCAAGTT | GTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCATACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAATACATCACCCAAGTT 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Task1_train_24629 | A variant has been detected on Chromosome 17 in BRCA1 (BRCA1 DNA repair associated). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | GTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAATACATCACCCAAGTT 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GTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCATACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAATACATCACCCAAGTT 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Task1_train_24630 | A variant on Chromosome 17 in gene BRCA1 (BRCA1 DNA repair associated) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hereditary breast ovarian cancer syndrome | GTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAATACATCACCCAAGTT 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GTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCATACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAATACATCACCCAAGTT 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Task1_train_24631 | This mutation occurs in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | TATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAATACATCACCCAAGTTC 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TATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCACGCTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAATACATCACCCAAGTTC 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Task1_train_24632 | A genomic change on Chromosome 17 affects BRCA1 (BRCA1 DNA repair associated). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | TTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAATACATCACCCAAGTTCCCATC 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TTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCACACTTTTTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAATACATCACCCAAGTTCCCATC 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Task1_train_24633 | The gene BRCA1 (BRCA1 DNA repair associated) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | GCTTTTTCAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCC 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GCTTTTTCAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGTTGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCC 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Task1_train_24634 | Consider a variant on Chromosome 17 in gene BRCA1 (BRCA1 DNA repair associated). Determine its clinical classification and disease relevance. | Pathogenic; Hereditary breast ovarian cancer syndrome | TTCAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCA | TTCAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGCCACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCA |
Task1_train_24635 | A change on Chromosome 17 affects gene BRCA1 (BRCA1 DNA repair associated). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | GCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAG 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GCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTGAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAG 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Task1_train_24636 | A sequence alteration has been identified in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | TACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCA | TACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCGTAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCA 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Task1_train_24637 | Given a variant located on Chromosome 17 and affecting BRCA1 (BRCA1 DNA repair associated), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | ATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATT 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ATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCAATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATT 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Task1_train_24638 | Gene BRCA1 (BRCA1 DNA repair associated) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | ATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATT | ATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCGATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATT 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Task1_train_24639 | This variant impacts the gene BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hereditary cancer-predisposing syndrome | TTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATTT 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TTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCCTTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATTT 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Task1_train_24640 | This variant lies on Chromosome 17 and affects the gene BRCA1 (BRCA1 DNA repair associated). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hereditary breast ovarian cancer syndrome | TTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATTT 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TTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCCTTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATTT 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Task1_train_24641 | A mutation in BRCA1 (BRCA1 DNA repair associated), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | TTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATTT 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TTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCTTTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATTT 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Task1_train_24642 | The gene BRCA1 (BRCA1 DNA repair associated) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hereditary breast ovarian cancer syndrome | TGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATTTG 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TGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCACTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATTTG 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Task1_train_24643 | Given this variant in gene BRCA1 (BRCA1 DNA repair associated) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | TGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATTTG 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TGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCACTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATTTG 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Task1_train_24644 | This is a variant in BRCA1 (BRCA1 DNA repair associated), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Breast neoplasm | TGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATTTG 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TGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCACTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATTTG 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Task1_train_24645 | Here’s a variant in BRCA1 (BRCA1 DNA repair associated) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Inherited breast cancer and ovarian cancer | TGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATTTG 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TGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCACTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATTTG 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Task1_train_24646 | A variant on Chromosome 17 in gene BRCA1 (BRCA1 DNA repair associated) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hereditary cancer-predisposing syndrome | TGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATTTG 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TGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCACTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATTTG 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Task1_train_24647 | This variant impacts the gene MEOX1 (mesenchyme homeobox 1) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Klippel-Feil syndrome 2, autosomal recessive | ATGGGATATTTTTTCTTATGTCATTTTTTACTACTATTAATATACATTTTTCTACCTTGAAAAATAAAATCTCCAAACTTTGAATTTAAACATTAGGGATGGTTACTTTGTGGTCAAGATTCCTTTATTAACAAAAGAGTTCATCTTTTGTTTATAAAACATTGACTATTTGATAGGTCATAGTTTAGGGAAACTGAAAGCTAAACTTTTACAATGAGAAATGAAGACCATGCATTTGCATTGGAGAAAAATTTTTTTTTGGCACCAATTATATTTTGTACCCACCTTTTGAAAAACTAAAGGGGGACAGCTCTGTCTAGATCATTTCTTCCCTTTTTCTCTTGCTTCTAGACATTGTCTGGTCAATCAGAAGGTTGCACACAAGAGCTGTGGTTGTTCGCTCTGCAAAGAAAAAGGCCTGGGAACTTTGCTTTTTATTGATTTTATTTCTCCGAGAGTTTTCTTACAAAGTGAATTGAGCTCGCACAATTAGCTTGATGTAATCTTAAGAAAATATATGAAGTATGCTTTAGAAAAAATCATGCTCTAACCAGCCATCTCATTTGGCAATCATTTTCCACAGCTCTTGCCCTTTTTGGGGTGGGGAGGTGGGGTTATTTTTACATGTGAATGATTACATCTGCGTACAAGAGATCCAAACTCACGTTGACCTCCCTCTGCAACACCAGCTGGTGTTGGGAGACAGAGCGCTGAGGCAGCCAGGGCTTCAGTCCCCCATGCTCTTTGGCCATCAGTCCTCAAATGTCATCTCCAGAAGACCTGGCTGAGGTCTGGGCAGTCCACACACAAAAACCTAGCATTTCCTCCCACAATAACAGCATTTGTAGAACACACAGCAAGAGCTTAAATCCATCCCATGGAGGAAGAGGGATTTTCTTGTCCCCTTTTGCAGTCACAGGACACTGTCACTGGAGAACCTTCCACTCCAGGGTTCCACATCTCCAGGCCCTCACCCAGCAGCCCTCCTTATTATCTCCCCTCCCCTCCAGAATGCAGGGGACACTTTCCAGCCTCTACGTTGTTTTCAGCTCCTAGTTGTTCAGCCCAACAACTCAGCATCTGGACAGGTTTTCAATCCAGAAATCGTGGATTTAAAAGGAGTAGCTGCTCCTTTTCTCTGGAGCACAGCCCAACAGCCCCTGCTGTATCCCTAAATTGATTTTGATTTTGAAGCAGCAGGTGCTGTCATGGGTTCATTCTTGTCCACCCAGTCAAGCCTGTGTGGACGGGCCTATATGGGGACACCGAAACCTACATCGGGCTATTTTTCTGTCTTCTCTAGTCAGTTCTCAGAAGTGTCTCCACTTAGCCAACAAATTTGGAGACAGGGATGTGTTTCTGGCTTGCAGCAGCTGAGTTGCTGTCCTTGACTCTCCTCATTCTGATTTTTCTTGGGGTTTCGGGACAACTAAGGGGCCCCAAAGCCTCAGATGTGCAGCCTACAGAGGAAGGTGGGCAAGGGCGTGTGTCTCTGTCATTTCCTTCCTTTTGAAGCATTTACTTTCCGAGTCGCCAGCTGGTTCCAAAGCTCCTCTCCCACCAGGCCAGGTGGTGTCCAGACCAGGAGGAGGCCTGGCTGACCTAGGAGAACAGCGGTAGGAGGAGGCATGGGTGGCAGCCAAGAGACGCTGAGAAGCAGTATCTCTGAAGCTGTTTCCAGATTCATCCGGCCCGGTAGGATCTCTGTCTGATTCCATGAGAGTGTGGGAGCAAAGGCCCTAGGGAAGAGGCTGCTAAGAGGCTGGACAGAACTTCCTAGAAAATCCTAAGACTCCCAGGAATGCTGGGCAGTTTCATATCCAAGAGTCAGGGAAAGATGTGGAGAGGCTGCCCTGGCTGGGGAAGGAAGAGGGTGAAGGTGGGATTGGGGTGGGGGTAGTTGGGTAGGGGGCTCAGTCCTTAGTCATTTTTCCTCCATGCAGAATCTCACTCTGAACTTGGAGAGGCTGTGGAGTCCCCATCCTCAGGGTCCTGCCCATTGGGGGAGATGGGCTGACCTCCCTTCACACGCTTCCACTTCATCCTTCGGTTCTGGAACCACACTTTGACCTGGGGGAGGAAGCAAAGGAGCCTGGTCACTCCAGGGCCGGTGTGACCTCCTCCCCATGTCAATGCTTAGGCTAGCCAGGGTGTAACTCCAGGGACCCCAGCTTGAAACCATCACTTACCACTCCCTACTCCCTCAAAGGCCCCAGGAACTAGGACCGAAGAGAGGACATACCAATCTGCCCAGAGGTCTGTCTTGTGGCTTCGGATAAAGCCCCAGACGGGGGAACATGTTCTAAAAGCACTCTGCATTGGCCCCACCCCCTTCACATGCCCTGCCCTGCCTGTGCCAGGTCCCCCTGCCCCCTACCTCCATTCCCCAAGGGTCTGGGAGCAGAGGTCATCAGCCTTATCCTTAGGCACATTTATAGAGCACTTTTTGGTTTAGATAGCTCTGGTAAGCACATTTTCTCATCTGAGCTTGAGTATTACCTGCAGGATTATGATCCCATTTTACAGATGGAGACCCAGAGGTCCCAGGGCTAGGAAAAGTGATAGAGGCAGGATTTGAATCTAAGTCTTCTGATTCAATATCCAGCCCTCTGGCAGAGTGCTCTGTCAACTGAAATCTGCTATCAAATATTACGGTTATTATTACTATTATTCCGTATCAGAGCATGGGTGTGGGGGTGTGGGGTGGCTGAAGGGAAAGTCCAAAACAAAGGGCCAGGGAAGTTTTTCTCAAAGTGTGCCCAGGAACCAGCTGCATATCCAGATCACCTGGAGAATGTACTAGAAATACAGATTCTCAGGCCCACTCATTATGGTAAAATCTCTCTCCGGACCTCCAGAATCCACATTTTGAACAAGTGCCTTGGGGGATTCCAACATATACTCAAATTTGGGAATAGCCAGACCGTAGGTCCCAACCTAGCTGCATGTGAGAATCACCTAGGGGGCCTTTGAAAAATTCTGAGGCCTGTATCCCATCCTAGGCCAATTAAAATCATCCCTAGGGGTGGAGCCCAGACATCAGCACTATTAAAATCTCCCCAGGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCATCCTGGCCAACATGGTGAAACCCCGCCTCTACTAAAAAAAAAAACAAAAATTAGCCGGGCGTGGTGGCGCACGCCAGTAGCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTACAGTAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAACAAAAAACAAAAAAACCCAAAACTCCCCAGGCTATTCTCAGGTGTGGCCACAGTTGAAAACCGCTGGACTGGCTGGAGGAAGAAAAAGGAGAAGGTCCAGGGAGGGGTGGTGGGAAAGGAGGGAAGGGAGGGAGATGAGAGAGCAAAGAAGAGGAGGGGCCCACCGGGGGCGCACCTGGCGCTCAGAGAGGTCCAGGTTTACCGCAATCTCATATCTGCGGAGCCGAGTCAGGTAGTTATGATGGGCAAACTCTGCCTCCAGCTCTCGCAGCTGCTCCTTGGTGAAGGCCGTCCTCTCCTTGCGGGCTTTGCTGCTGCCCTCCGGCTTCCCTCTGTTCTCCTGGTTGTCTGGGGAGAGAGGACCCCAAACAGGAAGACATGGGCTGAGGGAGACTCCATTCCCTTTCTTTTGCCCTTGAGCAACTAGGCAGTCTTTACCAGTCTCCCTTATTTTTACAGGATGCTGAGAAAAAAGCTACACTGTCCTTTTTATTCCTTCTGGTGTCTTACCCATATTAGAATTGGGAAGATTTTTTATTTTTGGTTTCCAATCTCAGGTACCTGCCTCCCACCCTCCCCCCACCCCAAACTTTCTTTTATTCCCAAAGCATAAGAAGCTACTCTTGGCTGTTTAATGACCTCTACTCCCCAGCCCACCCCCCAGCATGACATTACTGGTGGCCATAAGCTTGAGGGGTGAGATGCTCTAAAACAAAGCCTCAAACTATGGTCCCCAGATCAGCAGC 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ATGGGATATTTTTTCTTATGTCATTTTTTACTACTATTAATATACATTTTTCTACCTTGAAAAATAAAATCTCCAAACTTTGAATTTAAACATTAGGGATGGTTACTTTGTGGTCAAGATTCCTTTATTAACAAAAGAGTTCATCTTTTGTTTATAAAACATTGACTATTTGATAGGTCATAGTTTAGGGAAACTGAAAGCTAAACTTTTACAATGAGAAATGAAGACCATGCATTTGCATTGGAGAAAAATTTTTTTTTGGCACCAATTATATTTTGTACCCACCTTTTGAAAAACTAAAGGGGGACAGCTCTGTCTAGATCATTTCTTCCCTTTTTCTCTTGCTTCTAGACATTGTCTGGTCAATCAGAAGGTTGCACACAAGAGCTGTGGTTGTTCGCTCTGCAAAGAAAAAGGCCTGGGAACTTTGCTTTTTATTGATTTTATTTCTCCGAGAGTTTTCTTACAAAGTGAATTGAGCTCGCACAATTAGCTTGATGTAATCTTAAGAAAATATATGAAGTATGCTTTAGAAAAAATCATGCTCTAACCAGCCATCTCATTTGGCAATCATTTTCCACAGCTCTTGCCCTTTTTGGGGTGGGGAGGTGGGGTTATTTTTACATGTGAATGATTACATCTGCGTACAAGAGATCCAAACTCACGTTGACCTCCCTCTGCAACACCAGCTGGTGTTGGGAGACAGAGCGCTGAGGCAGCCAGGGCTTCAGTCCCCCATGCTCTTTGGCCATCAGTCCTCAAATGTCATCTCCAGAAGACCTGGCTGAGGTCTGGGCAGTCCACACACAAAAACCTAGCATTTCCTCCCACAATAACAGCATTTGTAGAACACACAGCAAGAGCTTAAATCCATCCCATGGAGGAAGAGGGATTTTCTTGTCCCCTTTTGCAGTCACAGGACACTGTCACTGGAGAACCTTCCACTCCAGGGTTCCACATCTCCAGGCCCTCACCCAGCAGCCCTCCTTATTATCTCCCCTCCCCTCCAGAATGCAGGGGACACTTTCCAGCCTCTACGTTGTTTTCAGCTCCTAGTTGTTCAGCCCAACAACTCAGCATCTGGACAGGTTTTCAATCCAGAAATCGTGGATTTAAAAGGAGTAGCTGCTCCTTTTCTCTGGAGCACAGCCCAACAGCCCCTGCTGTATCCCTAAATTGATTTTGATTTTGAAGCAGCAGGTGCTGTCATGGGTTCATTCTTGTCCACCCAGTCAAGCCTGTGTGGACGGGCCTATATGGGGACACCGAAACCTACATCGGGCTATTTTTCTGTCTTCTCTAGTCAGTTCTCAGAAGTGTCTCCACTTAGCCAACAAATTTGGAGACAGGGATGTGTTTCTGGCTTGCAGCAGCTGAGTTGCTGTCCTTGACTCTCCTCATTCTGATTTTTCTTGGGGTTTCGGGACAACTAAGGGGCCCCAAAGCCTCAGATGTGCAGCCTACAGAGGAAGGTGGGCAAGGGCGTGTGTCTCTGTCATTTCCTTCCTTTTGAAGCATTTACTTTCCGAGTCGCCAGCTGGTTCCAAAGCTCCTCTCCCACCAGGCCAGGTGGTGTCCAGACCAGGAGGAGGCCTGGCTGACCTAGGAGAACAGCGGTAGGAGGAGGCATGGGTGGCAGCCAAGAGACGCTGAGAAGCAGTATCTCTGAAGCTGTTTCCAGATTCATCCGGCCCGGTAGGATCTCTGTCTGATTCCATGAGAGTGTGGGAGCAAAGGCCCTAGGGAAGAGGCTGCTAAGAGGCTGGACAGAACTTCCTAGAAAATCCTAAGACTCCCAGGAATGCTGGGCAGTTTCATATCCAAGAGTCAGGGAAAGATGTGGAGAGGCTGCCCTGGCTGGGGAAGGAAGAGGGTGAAGGTGGGATTGGGGTGGGGGTAGTTGGGTAGGGGGCTCAGTCCTTAGTCATTTTTCCTCCATGCAGAATCTCACTCTGAACTTGGAGAGGCTGTGGAGTCCCCATCCTCAGGGTCCTGCCCATTGGGGGAGATGGGCTGACCTCCCTTCACACGCTTCCACTTCATCCTTCAGTTCTGGAACCACACTTTGACCTGGGGGAGGAAGCAAAGGAGCCTGGTCACTCCAGGGCCGGTGTGACCTCCTCCCCATGTCAATGCTTAGGCTAGCCAGGGTGTAACTCCAGGGACCCCAGCTTGAAACCATCACTTACCACTCCCTACTCCCTCAAAGGCCCCAGGAACTAGGACCGAAGAGAGGACATACCAATCTGCCCAGAGGTCTGTCTTGTGGCTTCGGATAAAGCCCCAGACGGGGGAACATGTTCTAAAAGCACTCTGCATTGGCCCCACCCCCTTCACATGCCCTGCCCTGCCTGTGCCAGGTCCCCCTGCCCCCTACCTCCATTCCCCAAGGGTCTGGGAGCAGAGGTCATCAGCCTTATCCTTAGGCACATTTATAGAGCACTTTTTGGTTTAGATAGCTCTGGTAAGCACATTTTCTCATCTGAGCTTGAGTATTACCTGCAGGATTATGATCCCATTTTACAGATGGAGACCCAGAGGTCCCAGGGCTAGGAAAAGTGATAGAGGCAGGATTTGAATCTAAGTCTTCTGATTCAATATCCAGCCCTCTGGCAGAGTGCTCTGTCAACTGAAATCTGCTATCAAATATTACGGTTATTATTACTATTATTCCGTATCAGAGCATGGGTGTGGGGGTGTGGGGTGGCTGAAGGGAAAGTCCAAAACAAAGGGCCAGGGAAGTTTTTCTCAAAGTGTGCCCAGGAACCAGCTGCATATCCAGATCACCTGGAGAATGTACTAGAAATACAGATTCTCAGGCCCACTCATTATGGTAAAATCTCTCTCCGGACCTCCAGAATCCACATTTTGAACAAGTGCCTTGGGGGATTCCAACATATACTCAAATTTGGGAATAGCCAGACCGTAGGTCCCAACCTAGCTGCATGTGAGAATCACCTAGGGGGCCTTTGAAAAATTCTGAGGCCTGTATCCCATCCTAGGCCAATTAAAATCATCCCTAGGGGTGGAGCCCAGACATCAGCACTATTAAAATCTCCCCAGGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCATCCTGGCCAACATGGTGAAACCCCGCCTCTACTAAAAAAAAAAACAAAAATTAGCCGGGCGTGGTGGCGCACGCCAGTAGCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTACAGTAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAACAAAAAACAAAAAAACCCAAAACTCCCCAGGCTATTCTCAGGTGTGGCCACAGTTGAAAACCGCTGGACTGGCTGGAGGAAGAAAAAGGAGAAGGTCCAGGGAGGGGTGGTGGGAAAGGAGGGAAGGGAGGGAGATGAGAGAGCAAAGAAGAGGAGGGGCCCACCGGGGGCGCACCTGGCGCTCAGAGAGGTCCAGGTTTACCGCAATCTCATATCTGCGGAGCCGAGTCAGGTAGTTATGATGGGCAAACTCTGCCTCCAGCTCTCGCAGCTGCTCCTTGGTGAAGGCCGTCCTCTCCTTGCGGGCTTTGCTGCTGCCCTCCGGCTTCCCTCTGTTCTCCTGGTTGTCTGGGGAGAGAGGACCCCAAACAGGAAGACATGGGCTGAGGGAGACTCCATTCCCTTTCTTTTGCCCTTGAGCAACTAGGCAGTCTTTACCAGTCTCCCTTATTTTTACAGGATGCTGAGAAAAAAGCTACACTGTCCTTTTTATTCCTTCTGGTGTCTTACCCATATTAGAATTGGGAAGATTTTTTATTTTTGGTTTCCAATCTCAGGTACCTGCCTCCCACCCTCCCCCCACCCCAAACTTTCTTTTATTCCCAAAGCATAAGAAGCTACTCTTGGCTGTTTAATGACCTCTACTCCCCAGCCCACCCCCCAGCATGACATTACTGGTGGCCATAAGCTTGAGGGGTGAGATGCTCTAAAACAAAGCCTCAAACTATGGTCCCCAGATCAGCAGC 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Task1_train_24648 | The variant affects gene SOST (sclerostin), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Craniodiaphyseal dysplasia, autosomal dominant | TACTGTCGTTACTTTCCTACCATAGGGGCCCTGAGCTCTGACCCAAAACCTACAGGTTCAGCTGCCACAAACATTGACCTGGCTCTCTGCTGGGCACATTTCTTGTTCTGTGTTATCTGAATGGGCGCCTCATGGTGATACTCCCTGGGCAGGCAGAGATTGGGCTCCGAGGCCTGGCCTGATCCCCTGCACACACCTTGACCATGTCTCCTATGGTGGACTTAGATGGGTGGGAGCTTTTTAAATAGCTGGTCGTCGTGTGAGTACCAGTCCACCCCCAAAGGTTTCATGGGGATAGTTCCAATGTGACAAGAAAGAATGAAAAATAGTCTTAAGACCAAACCAGAGAGGGGACAGAGAAGGCCACCCCCCACCCCCACTCTGAAGAGCAAGCACAGCAGGGGAGATGTGGCCACTGCCATCGTCTGGGGCTGCTTTCTGGTCTGTGGGCTGGTTTGCATCCTCACCTCTGCAGGGCTGGAATGTGTGTGTGGTCAGGGGGGCATTTGCCCAGGGAAGGGGGCATTTTGCGGCTTTTCGAGAATAGCGCCCCTAGGCCAGGCACTTCCTCTGCAGATCATGACTTTGTTTTGAGCATGTGGCTTCCTCAGGGGCTGTGGCCTCTCGTGGGAGTCCAGCAAGGTGGACATTTTGTGTTTGGGTTCCTTACAGCCCTTCAGGCAGTCGCTGGAGCCCAGCTGACCTTGCCTAGAAGGGGAGCTGTGGGGGGAGGCGCCCTTGTCCTCCATTTTGAAGACGGAGGGTCCTGGCTGGCCTCCCATGCAGTTGCCCTTTTTAGCACCCCATAGTCCCAACAGGTTGTGAGGCGGGGAGGGCTGGGGTCCAGGAGCCTGGGCAGTGGACTTCTCTGCCACCTGGATAATGGCCAGAGGACAGGGAAGCTCTTAGTCTGAAGTGTCATTTCAGACGCCCCCATGGCCTCAGGATTCCTGCCAATTATAGAGCCAGATGCACACTGTCACCTGGGCTTCTCTGTGCAGGCCTGACCAGGAACCCAGGGTTCCTCTTCCTTCTCCCTCCCCTGGAATGAGGCAAGGTTGGGACTGGGGTGGCTGCTGAGGACAGATGTCCCTACTCCTGCACAGAGGATGCTGCTCTCCCCTCCAGGGCCTGGACTCAGCTGCACCCATGTCAGGGGCTAAAACTGTGCCGAAAACTCCCATTCCTTCAAGTGCCAGCTCCCTGGGCAGGCCGTGGGCAATGCACACTGCAGGGGTGCCTCTCTGGCCTTCCTCCCCACTGCTTTGTGGAGATCTGTCCCCCACACCCCCCCACACACCAGGGCTATCTTGCAGTTGGATCAAACCAGGTTCACACCTCAGCTCTTCTCACTACCAAGTTACTGAGTGCCTGGAACCTGTTTCTTCCCCTTCGAGCTGGGGGTTCACCTCCTGGGGATTCCATGATGTGGGTCTGTGTGGTGGGGACAGCCACCACCAGCATAGAGTGTCCGGTGCCCCACAGGTGCTGTTCTGTGGATGGGAGGCTCCCTTACCTTGTTCCCTTCCCAGTGGTACCAGCAGCTGGACGTGGCTCCTATATTCCCAGGAGGAGATTCTTTGAAACCTTTTCTTTTCTGAGCCCCTGAGCCTGTTCTGATGCCCTGATGCCATACCCTCACCACCCCAGCGTCCTCCCTGCCCTGGGCTCTCACCAGCGTCTGTTGCCTCATGCCTCTGCACCTGAATTTGAAGGCTGCACCAGCGAGCCATTCTTCCCCCACCTCCAGGCAAGACTGTTCCTCGACCAGTGCTGGCAGAGGCCAGCAATCTTCACTGGGTCTACCCCAGTCTTCCAAGCCTCCCAAAGAGAAGTTTCTAAAACCTCCCCAGGATCTTTTACTAAGAATTCTCTCCTCCACCCCATACCTTTGGTCTCAAAGGGGTGGTGGGGAGGCCGCCCTCCGTTCTCCGCCCGGTTCATGGTCTTGTTGTTCTCCAGCTCCGGTGGAGGCTCGGGGTACTCTCCGAGCTCGGGGATGATTTCCGTGGCATCATTCTTGAACGCCTGCCACCCCTGGCCCTCCACTACACGGAAGGCTGTGTGTACCAGCAGGCAGACGAGACACAGGGCCAGTGGGAGCTGCATGGTACCAGCCAGAGGAGGGCACGCCACCTTCCAGTAGCACAGGCTCTGGTCTCCAGCCGAGACACGGTCGCCTTTTTAAAGCCCCTCTCTGCTTCATGCCAGCCAATGAGGACAGGCTGGGGCAGGGCTGGTCCCATGTTTCCCTCAGCCCCGGAGGGAGGGAAAGGGGTGTGCTCAGAGCAAACCCTCCCCAAAGACTTCTCCTCTAGCTCAGCAAACTTCCAAATTGCTGCTGGCACTCCCAGGTGACCCAGAGAGAGGGGGCGTGTGAGGCAAGGCCCAAGCCTGCTCTCCGGCACCTCCCACGTGCTGGCGGCTGTGGTTTTCAGATATCAAAATGAGCTCCGGCTTTTAATTGTCTGTCTCCCTGGGCCCTCGGGCATTCTCAAAACAAACTGTGGACCCGCTCAACAAAGAAAATGTGCAGTTCTGAGTGCTTCGCGGGGCTGAGCCCGGCCTATTCCATTTCTCAGGCCAAGTTCATTTGTCACCCCACCAACAAATGGCCCAAGGCGTTTCTGTTTGACCCCCATAGACCCAGCCAGAGGCAAAAAGATGCTTTTAAAGAAATCCCATTGGTCCCAACTCCACAAGTCTCAGCATTCATTGTCCTAACCAAGAAAGCCTCTCTTGGTATTCTCTGGAAGGCAAGAGAGAGAACTAGAGGGTCAGAGCAAGGGTGCCCGCTTGGGAGAGAGGGCAGGATTCTGGTTACAAATCGAGGATGCGCTGGTCACTCAGGCTCCTGTGGTGGACAGCACAGAGGAAATCCCAGCTCATGCTCCTCAGGGATCCTGTGCACTGTGACAGGCACTTCTGAGCCAGGGCACTCACTGTGGCTCGCAGGGTGATGTGCTGAAGACAGTCATTTCCCCAACCAGTCTGTGTGTGTGAGAAGACAACACCAAATTCCTTTCCTTAGCAAAAGCCACAGCCAGCGTTTTTAGTGCTGACATTTTATTTTCTTGTCTTCCAGCTGGTTACATTTTTCAAAAACAGTTTTGAGTCCTGTATGGAAAGCTTCATTGGTGCACACCACAGGATGTGTTCCATGAAGCCATCCCAGGACCAAGTGGTCACAAAGAAGCTAAGAGAAAATGCTGCCTTGGCCCTGCATATAATGAGCCACACAGGGCCGGGGCGGGGGGCGGGGGGGCAGGTAGAGGCGTGGGGGAGAAGGATTCACACCTGAGGTGCAAGAAGAGAAAGGAAGGCCAGAGGAATCTTTCATTGAAGACAGATTGTTTGAGGACAAGCAGCTCCTGTGAAGAGGCTGCCCAGATCCTCTGGTATTTTAACTGGGCAATGAATCAGCATGCCCCACCTGCAGAGCCTCTGCAAGTCCTTTGCCACCTGCCTCAACTTGCAAGTCGCTGTGTCCATCTGCAGCCGACTGTCCTCCTTTCCATCATCCATCATCCGACACATGAATGCAGCTGCTCTGACAGTTTTACAAGCCAGACAGAAGCCCCCTCAGGAAGGGCCCTCTCTGATACCTGCTTCCTAAGTCAGTTTCCTTCAGGGCAGATGAAAACAGCTGTGGCCATTGTTGGGGGTGATCTATCTCTCCCAGCAGAGCCGGTAGTGTTGTGAGAAGCTGGCCCTCCGCGCCACCTCCCCTTGTCTATGACCCTCCAGCCTCCTTTTCCCTTGCTCTGGAATGTGGACTGTTAACCCTCTCATGACCAGACGACTGCCTTCTTGCAATGGACTTGGGAGAGAGCAGTTCTGATGCCTGGGTTCCTTGAGCAGGTAGGATGGATGCTTATAGCCCCACCTGCTGTTGGGAGCGGCTGGACCGTCTGCATTAAACAGAGGCAGTGGGATTCATCCCTGGAACGCGTCTGCCACCTGCTGGAGACAAAAGGAGGGGTGACTGCAGGATGGCAAGTCTCAGGACTGGACGTGATTTCCTTTCCTTTCCTTTCCTTATTTGGAAGTGAAGTAATATTAAAAGGAAAAAGAAGAATCCAGTGGACTTGAACCT 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TACTGTCGTTACTTTCCTACCATAGGGGCCCTGAGCTCTGACCCAAAACCTACAGGTTCAGCTGCCACAAACATTGACCTGGCTCTCTGCTGGGCACATTTCTTGTTCTGTGTTATCTGAATGGGCGCCTCATGGTGATACTCCCTGGGCAGGCAGAGATTGGGCTCCGAGGCCTGGCCTGATCCCCTGCACACACCTTGACCATGTCTCCTATGGTGGACTTAGATGGGTGGGAGCTTTTTAAATAGCTGGTCGTCGTGTGAGTACCAGTCCACCCCCAAAGGTTTCATGGGGATAGTTCCAATGTGACAAGAAAGAATGAAAAATAGTCTTAAGACCAAACCAGAGAGGGGACAGAGAAGGCCACCCCCCACCCCCACTCTGAAGAGCAAGCACAGCAGGGGAGATGTGGCCACTGCCATCGTCTGGGGCTGCTTTCTGGTCTGTGGGCTGGTTTGCATCCTCACCTCTGCAGGGCTGGAATGTGTGTGTGGTCAGGGGGGCATTTGCCCAGGGAAGGGGGCATTTTGCGGCTTTTCGAGAATAGCGCCCCTAGGCCAGGCACTTCCTCTGCAGATCATGACTTTGTTTTGAGCATGTGGCTTCCTCAGGGGCTGTGGCCTCTCGTGGGAGTCCAGCAAGGTGGACATTTTGTGTTTGGGTTCCTTACAGCCCTTCAGGCAGTCGCTGGAGCCCAGCTGACCTTGCCTAGAAGGGGAGCTGTGGGGGGAGGCGCCCTTGTCCTCCATTTTGAAGACGGAGGGTCCTGGCTGGCCTCCCATGCAGTTGCCCTTTTTAGCACCCCATAGTCCCAACAGGTTGTGAGGCGGGGAGGGCTGGGGTCCAGGAGCCTGGGCAGTGGACTTCTCTGCCACCTGGATAATGGCCAGAGGACAGGGAAGCTCTTAGTCTGAAGTGTCATTTCAGACGCCCCCATGGCCTCAGGATTCCTGCCAATTATAGAGCCAGATGCACACTGTCACCTGGGCTTCTCTGTGCAGGCCTGACCAGGAACCCAGGGTTCCTCTTCCTTCTCCCTCCCCTGGAATGAGGCAAGGTTGGGACTGGGGTGGCTGCTGAGGACAGATGTCCCTACTCCTGCACAGAGGATGCTGCTCTCCCCTCCAGGGCCTGGACTCAGCTGCACCCATGTCAGGGGCTAAAACTGTGCCGAAAACTCCCATTCCTTCAAGTGCCAGCTCCCTGGGCAGGCCGTGGGCAATGCACACTGCAGGGGTGCCTCTCTGGCCTTCCTCCCCACTGCTTTGTGGAGATCTGTCCCCCACACCCCCCCACACACCAGGGCTATCTTGCAGTTGGATCAAACCAGGTTCACACCTCAGCTCTTCTCACTACCAAGTTACTGAGTGCCTGGAACCTGTTTCTTCCCCTTCGAGCTGGGGGTTCACCTCCTGGGGATTCCATGATGTGGGTCTGTGTGGTGGGGACAGCCACCACCAGCATAGAGTGTCCGGTGCCCCACAGGTGCTGTTCTGTGGATGGGAGGCTCCCTTACCTTGTTCCCTTCCCAGTGGTACCAGCAGCTGGACGTGGCTCCTATATTCCCAGGAGGAGATTCTTTGAAACCTTTTCTTTTCTGAGCCCCTGAGCCTGTTCTGATGCCCTGATGCCATACCCTCACCACCCCAGCGTCCTCCCTGCCCTGGGCTCTCACCAGCGTCTGTTGCCTCATGCCTCTGCACCTGAATTTGAAGGCTGCACCAGCGAGCCATTCTTCCCCCACCTCCAGGCAAGACTGTTCCTCGACCAGTGCTGGCAGAGGCCAGCAATCTTCACTGGGTCTACCCCAGTCTTCCAAGCCTCCCAAAGAGAAGTTTCTAAAACCTCCCCAGGATCTTTTACTAAGAATTCTCTCCTCCACCCCATACCTTTGGTCTCAAAGGGGTGGTGGGGAGGCCGCCCTCCGTTCTCCGCCCGGTTCATGGTCTTGTTGTTCTCCAGCTCCGGTGGAGGCTCGGGGTACTCTCCGAGCTCGGGGATGATTTCCGTGGCATCATTCTTGAACGCCTGCCACCCCTGGCCCTCCAATACACGGAAGGCTGTGTGTACCAGCAGGCAGACGAGACACAGGGCCAGTGGGAGCTGCATGGTACCAGCCAGAGGAGGGCACGCCACCTTCCAGTAGCACAGGCTCTGGTCTCCAGCCGAGACACGGTCGCCTTTTTAAAGCCCCTCTCTGCTTCATGCCAGCCAATGAGGACAGGCTGGGGCAGGGCTGGTCCCATGTTTCCCTCAGCCCCGGAGGGAGGGAAAGGGGTGTGCTCAGAGCAAACCCTCCCCAAAGACTTCTCCTCTAGCTCAGCAAACTTCCAAATTGCTGCTGGCACTCCCAGGTGACCCAGAGAGAGGGGGCGTGTGAGGCAAGGCCCAAGCCTGCTCTCCGGCACCTCCCACGTGCTGGCGGCTGTGGTTTTCAGATATCAAAATGAGCTCCGGCTTTTAATTGTCTGTCTCCCTGGGCCCTCGGGCATTCTCAAAACAAACTGTGGACCCGCTCAACAAAGAAAATGTGCAGTTCTGAGTGCTTCGCGGGGCTGAGCCCGGCCTATTCCATTTCTCAGGCCAAGTTCATTTGTCACCCCACCAACAAATGGCCCAAGGCGTTTCTGTTTGACCCCCATAGACCCAGCCAGAGGCAAAAAGATGCTTTTAAAGAAATCCCATTGGTCCCAACTCCACAAGTCTCAGCATTCATTGTCCTAACCAAGAAAGCCTCTCTTGGTATTCTCTGGAAGGCAAGAGAGAGAACTAGAGGGTCAGAGCAAGGGTGCCCGCTTGGGAGAGAGGGCAGGATTCTGGTTACAAATCGAGGATGCGCTGGTCACTCAGGCTCCTGTGGTGGACAGCACAGAGGAAATCCCAGCTCATGCTCCTCAGGGATCCTGTGCACTGTGACAGGCACTTCTGAGCCAGGGCACTCACTGTGGCTCGCAGGGTGATGTGCTGAAGACAGTCATTTCCCCAACCAGTCTGTGTGTGTGAGAAGACAACACCAAATTCCTTTCCTTAGCAAAAGCCACAGCCAGCGTTTTTAGTGCTGACATTTTATTTTCTTGTCTTCCAGCTGGTTACATTTTTCAAAAACAGTTTTGAGTCCTGTATGGAAAGCTTCATTGGTGCACACCACAGGATGTGTTCCATGAAGCCATCCCAGGACCAAGTGGTCACAAAGAAGCTAAGAGAAAATGCTGCCTTGGCCCTGCATATAATGAGCCACACAGGGCCGGGGCGGGGGGCGGGGGGGCAGGTAGAGGCGTGGGGGAGAAGGATTCACACCTGAGGTGCAAGAAGAGAAAGGAAGGCCAGAGGAATCTTTCATTGAAGACAGATTGTTTGAGGACAAGCAGCTCCTGTGAAGAGGCTGCCCAGATCCTCTGGTATTTTAACTGGGCAATGAATCAGCATGCCCCACCTGCAGAGCCTCTGCAAGTCCTTTGCCACCTGCCTCAACTTGCAAGTCGCTGTGTCCATCTGCAGCCGACTGTCCTCCTTTCCATCATCCATCATCCGACACATGAATGCAGCTGCTCTGACAGTTTTACAAGCCAGACAGAAGCCCCCTCAGGAAGGGCCCTCTCTGATACCTGCTTCCTAAGTCAGTTTCCTTCAGGGCAGATGAAAACAGCTGTGGCCATTGTTGGGGGTGATCTATCTCTCCCAGCAGAGCCGGTAGTGTTGTGAGAAGCTGGCCCTCCGCGCCACCTCCCCTTGTCTATGACCCTCCAGCCTCCTTTTCCCTTGCTCTGGAATGTGGACTGTTAACCCTCTCATGACCAGACGACTGCCTTCTTGCAATGGACTTGGGAGAGAGCAGTTCTGATGCCTGGGTTCCTTGAGCAGGTAGGATGGATGCTTATAGCCCCACCTGCTGTTGGGAGCGGCTGGACCGTCTGCATTAAACAGAGGCAGTGGGATTCATCCCTGGAACGCGTCTGCCACCTGCTGGAGACAAAAGGAGGGGTGACTGCAGGATGGCAAGTCTCAGGACTGGACGTGATTTCCTTTCCTTTCCTTTCCTTATTTGGAAGTGAAGTAATATTAAAAGGAAAAAGAAGAATCCAGTGGACTTGAACCT 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Task1_train_24649 | This variant affects the gene SOST (sclerostin) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; SOST-related disorder | TACTGTCGTTACTTTCCTACCATAGGGGCCCTGAGCTCTGACCCAAAACCTACAGGTTCAGCTGCCACAAACATTGACCTGGCTCTCTGCTGGGCACATTTCTTGTTCTGTGTTATCTGAATGGGCGCCTCATGGTGATACTCCCTGGGCAGGCAGAGATTGGGCTCCGAGGCCTGGCCTGATCCCCTGCACACACCTTGACCATGTCTCCTATGGTGGACTTAGATGGGTGGGAGCTTTTTAAATAGCTGGTCGTCGTGTGAGTACCAGTCCACCCCCAAAGGTTTCATGGGGATAGTTCCAATGTGACAAGAAAGAATGAAAAATAGTCTTAAGACCAAACCAGAGAGGGGACAGAGAAGGCCACCCCCCACCCCCACTCTGAAGAGCAAGCACAGCAGGGGAGATGTGGCCACTGCCATCGTCTGGGGCTGCTTTCTGGTCTGTGGGCTGGTTTGCATCCTCACCTCTGCAGGGCTGGAATGTGTGTGTGGTCAGGGGGGCATTTGCCCAGGGAAGGGGGCATTTTGCGGCTTTTCGAGAATAGCGCCCCTAGGCCAGGCACTTCCTCTGCAGATCATGACTTTGTTTTGAGCATGTGGCTTCCTCAGGGGCTGTGGCCTCTCGTGGGAGTCCAGCAAGGTGGACATTTTGTGTTTGGGTTCCTTACAGCCCTTCAGGCAGTCGCTGGAGCCCAGCTGACCTTGCCTAGAAGGGGAGCTGTGGGGGGAGGCGCCCTTGTCCTCCATTTTGAAGACGGAGGGTCCTGGCTGGCCTCCCATGCAGTTGCCCTTTTTAGCACCCCATAGTCCCAACAGGTTGTGAGGCGGGGAGGGCTGGGGTCCAGGAGCCTGGGCAGTGGACTTCTCTGCCACCTGGATAATGGCCAGAGGACAGGGAAGCTCTTAGTCTGAAGTGTCATTTCAGACGCCCCCATGGCCTCAGGATTCCTGCCAATTATAGAGCCAGATGCACACTGTCACCTGGGCTTCTCTGTGCAGGCCTGACCAGGAACCCAGGGTTCCTCTTCCTTCTCCCTCCCCTGGAATGAGGCAAGGTTGGGACTGGGGTGGCTGCTGAGGACAGATGTCCCTACTCCTGCACAGAGGATGCTGCTCTCCCCTCCAGGGCCTGGACTCAGCTGCACCCATGTCAGGGGCTAAAACTGTGCCGAAAACTCCCATTCCTTCAAGTGCCAGCTCCCTGGGCAGGCCGTGGGCAATGCACACTGCAGGGGTGCCTCTCTGGCCTTCCTCCCCACTGCTTTGTGGAGATCTGTCCCCCACACCCCCCCACACACCAGGGCTATCTTGCAGTTGGATCAAACCAGGTTCACACCTCAGCTCTTCTCACTACCAAGTTACTGAGTGCCTGGAACCTGTTTCTTCCCCTTCGAGCTGGGGGTTCACCTCCTGGGGATTCCATGATGTGGGTCTGTGTGGTGGGGACAGCCACCACCAGCATAGAGTGTCCGGTGCCCCACAGGTGCTGTTCTGTGGATGGGAGGCTCCCTTACCTTGTTCCCTTCCCAGTGGTACCAGCAGCTGGACGTGGCTCCTATATTCCCAGGAGGAGATTCTTTGAAACCTTTTCTTTTCTGAGCCCCTGAGCCTGTTCTGATGCCCTGATGCCATACCCTCACCACCCCAGCGTCCTCCCTGCCCTGGGCTCTCACCAGCGTCTGTTGCCTCATGCCTCTGCACCTGAATTTGAAGGCTGCACCAGCGAGCCATTCTTCCCCCACCTCCAGGCAAGACTGTTCCTCGACCAGTGCTGGCAGAGGCCAGCAATCTTCACTGGGTCTACCCCAGTCTTCCAAGCCTCCCAAAGAGAAGTTTCTAAAACCTCCCCAGGATCTTTTACTAAGAATTCTCTCCTCCACCCCATACCTTTGGTCTCAAAGGGGTGGTGGGGAGGCCGCCCTCCGTTCTCCGCCCGGTTCATGGTCTTGTTGTTCTCCAGCTCCGGTGGAGGCTCGGGGTACTCTCCGAGCTCGGGGATGATTTCCGTGGCATCATTCTTGAACGCCTGCCACCCCTGGCCCTCCACTACACGGAAGGCTGTGTGTACCAGCAGGCAGACGAGACACAGGGCCAGTGGGAGCTGCATGGTACCAGCCAGAGGAGGGCACGCCACCTTCCAGTAGCACAGGCTCTGGTCTCCAGCCGAGACACGGTCGCCTTTTTAAAGCCCCTCTCTGCTTCATGCCAGCCAATGAGGACAGGCTGGGGCAGGGCTGGTCCCATGTTTCCCTCAGCCCCGGAGGGAGGGAAAGGGGTGTGCTCAGAGCAAACCCTCCCCAAAGACTTCTCCTCTAGCTCAGCAAACTTCCAAATTGCTGCTGGCACTCCCAGGTGACCCAGAGAGAGGGGGCGTGTGAGGCAAGGCCCAAGCCTGCTCTCCGGCACCTCCCACGTGCTGGCGGCTGTGGTTTTCAGATATCAAAATGAGCTCCGGCTTTTAATTGTCTGTCTCCCTGGGCCCTCGGGCATTCTCAAAACAAACTGTGGACCCGCTCAACAAAGAAAATGTGCAGTTCTGAGTGCTTCGCGGGGCTGAGCCCGGCCTATTCCATTTCTCAGGCCAAGTTCATTTGTCACCCCACCAACAAATGGCCCAAGGCGTTTCTGTTTGACCCCCATAGACCCAGCCAGAGGCAAAAAGATGCTTTTAAAGAAATCCCATTGGTCCCAACTCCACAAGTCTCAGCATTCATTGTCCTAACCAAGAAAGCCTCTCTTGGTATTCTCTGGAAGGCAAGAGAGAGAACTAGAGGGTCAGAGCAAGGGTGCCCGCTTGGGAGAGAGGGCAGGATTCTGGTTACAAATCGAGGATGCGCTGGTCACTCAGGCTCCTGTGGTGGACAGCACAGAGGAAATCCCAGCTCATGCTCCTCAGGGATCCTGTGCACTGTGACAGGCACTTCTGAGCCAGGGCACTCACTGTGGCTCGCAGGGTGATGTGCTGAAGACAGTCATTTCCCCAACCAGTCTGTGTGTGTGAGAAGACAACACCAAATTCCTTTCCTTAGCAAAAGCCACAGCCAGCGTTTTTAGTGCTGACATTTTATTTTCTTGTCTTCCAGCTGGTTACATTTTTCAAAAACAGTTTTGAGTCCTGTATGGAAAGCTTCATTGGTGCACACCACAGGATGTGTTCCATGAAGCCATCCCAGGACCAAGTGGTCACAAAGAAGCTAAGAGAAAATGCTGCCTTGGCCCTGCATATAATGAGCCACACAGGGCCGGGGCGGGGGGCGGGGGGGCAGGTAGAGGCGTGGGGGAGAAGGATTCACACCTGAGGTGCAAGAAGAGAAAGGAAGGCCAGAGGAATCTTTCATTGAAGACAGATTGTTTGAGGACAAGCAGCTCCTGTGAAGAGGCTGCCCAGATCCTCTGGTATTTTAACTGGGCAATGAATCAGCATGCCCCACCTGCAGAGCCTCTGCAAGTCCTTTGCCACCTGCCTCAACTTGCAAGTCGCTGTGTCCATCTGCAGCCGACTGTCCTCCTTTCCATCATCCATCATCCGACACATGAATGCAGCTGCTCTGACAGTTTTACAAGCCAGACAGAAGCCCCCTCAGGAAGGGCCCTCTCTGATACCTGCTTCCTAAGTCAGTTTCCTTCAGGGCAGATGAAAACAGCTGTGGCCATTGTTGGGGGTGATCTATCTCTCCCAGCAGAGCCGGTAGTGTTGTGAGAAGCTGGCCCTCCGCGCCACCTCCCCTTGTCTATGACCCTCCAGCCTCCTTTTCCCTTGCTCTGGAATGTGGACTGTTAACCCTCTCATGACCAGACGACTGCCTTCTTGCAATGGACTTGGGAGAGAGCAGTTCTGATGCCTGGGTTCCTTGAGCAGGTAGGATGGATGCTTATAGCCCCACCTGCTGTTGGGAGCGGCTGGACCGTCTGCATTAAACAGAGGCAGTGGGATTCATCCCTGGAACGCGTCTGCCACCTGCTGGAGACAAAAGGAGGGGTGACTGCAGGATGGCAAGTCTCAGGACTGGACGTGATTTCCTTTCCTTTCCTTTCCTTATTTGGAAGTGAAGTAATATTAAAAGGAAAAAGAAGAATCCAGTGGACTTGAACCT 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TACTGTCGTTACTTTCCTACCATAGGGGCCCTGAGCTCTGACCCAAAACCTACAGGTTCAGCTGCCACAAACATTGACCTGGCTCTCTGCTGGGCACATTTCTTGTTCTGTGTTATCTGAATGGGCGCCTCATGGTGATACTCCCTGGGCAGGCAGAGATTGGGCTCCGAGGCCTGGCCTGATCCCCTGCACACACCTTGACCATGTCTCCTATGGTGGACTTAGATGGGTGGGAGCTTTTTAAATAGCTGGTCGTCGTGTGAGTACCAGTCCACCCCCAAAGGTTTCATGGGGATAGTTCCAATGTGACAAGAAAGAATGAAAAATAGTCTTAAGACCAAACCAGAGAGGGGACAGAGAAGGCCACCCCCCACCCCCACTCTGAAGAGCAAGCACAGCAGGGGAGATGTGGCCACTGCCATCGTCTGGGGCTGCTTTCTGGTCTGTGGGCTGGTTTGCATCCTCACCTCTGCAGGGCTGGAATGTGTGTGTGGTCAGGGGGGCATTTGCCCAGGGAAGGGGGCATTTTGCGGCTTTTCGAGAATAGCGCCCCTAGGCCAGGCACTTCCTCTGCAGATCATGACTTTGTTTTGAGCATGTGGCTTCCTCAGGGGCTGTGGCCTCTCGTGGGAGTCCAGCAAGGTGGACATTTTGTGTTTGGGTTCCTTACAGCCCTTCAGGCAGTCGCTGGAGCCCAGCTGACCTTGCCTAGAAGGGGAGCTGTGGGGGGAGGCGCCCTTGTCCTCCATTTTGAAGACGGAGGGTCCTGGCTGGCCTCCCATGCAGTTGCCCTTTTTAGCACCCCATAGTCCCAACAGGTTGTGAGGCGGGGAGGGCTGGGGTCCAGGAGCCTGGGCAGTGGACTTCTCTGCCACCTGGATAATGGCCAGAGGACAGGGAAGCTCTTAGTCTGAAGTGTCATTTCAGACGCCCCCATGGCCTCAGGATTCCTGCCAATTATAGAGCCAGATGCACACTGTCACCTGGGCTTCTCTGTGCAGGCCTGACCAGGAACCCAGGGTTCCTCTTCCTTCTCCCTCCCCTGGAATGAGGCAAGGTTGGGACTGGGGTGGCTGCTGAGGACAGATGTCCCTACTCCTGCACAGAGGATGCTGCTCTCCCCTCCAGGGCCTGGACTCAGCTGCACCCATGTCAGGGGCTAAAACTGTGCCGAAAACTCCCATTCCTTCAAGTGCCAGCTCCCTGGGCAGGCCGTGGGCAATGCACACTGCAGGGGTGCCTCTCTGGCCTTCCTCCCCACTGCTTTGTGGAGATCTGTCCCCCACACCCCCCCACACACCAGGGCTATCTTGCAGTTGGATCAAACCAGGTTCACACCTCAGCTCTTCTCACTACCAAGTTACTGAGTGCCTGGAACCTGTTTCTTCCCCTTCGAGCTGGGGGTTCACCTCCTGGGGATTCCATGATGTGGGTCTGTGTGGTGGGGACAGCCACCACCAGCATAGAGTGTCCGGTGCCCCACAGGTGCTGTTCTGTGGATGGGAGGCTCCCTTACCTTGTTCCCTTCCCAGTGGTACCAGCAGCTGGACGTGGCTCCTATATTCCCAGGAGGAGATTCTTTGAAACCTTTTCTTTTCTGAGCCCCTGAGCCTGTTCTGATGCCCTGATGCCATACCCTCACCACCCCAGCGTCCTCCCTGCCCTGGGCTCTCACCAGCGTCTGTTGCCTCATGCCTCTGCACCTGAATTTGAAGGCTGCACCAGCGAGCCATTCTTCCCCCACCTCCAGGCAAGACTGTTCCTCGACCAGTGCTGGCAGAGGCCAGCAATCTTCACTGGGTCTACCCCAGTCTTCCAAGCCTCCCAAAGAGAAGTTTCTAAAACCTCCCCAGGATCTTTTACTAAGAATTCTCTCCTCCACCCCATACCTTTGGTCTCAAAGGGGTGGTGGGGAGGCCGCCCTCCGTTCTCCGCCCGGTTCATGGTCTTGTTGTTCTCCAGCTCCGGTGGAGGCTCGGGGTACTCTCCGAGCTCGGGGATGATTTCCGTGGCATCATTCTTGAACGCCTGCCACCCCTGGCCCTCCATTACACGGAAGGCTGTGTGTACCAGCAGGCAGACGAGACACAGGGCCAGTGGGAGCTGCATGGTACCAGCCAGAGGAGGGCACGCCACCTTCCAGTAGCACAGGCTCTGGTCTCCAGCCGAGACACGGTCGCCTTTTTAAAGCCCCTCTCTGCTTCATGCCAGCCAATGAGGACAGGCTGGGGCAGGGCTGGTCCCATGTTTCCCTCAGCCCCGGAGGGAGGGAAAGGGGTGTGCTCAGAGCAAACCCTCCCCAAAGACTTCTCCTCTAGCTCAGCAAACTTCCAAATTGCTGCTGGCACTCCCAGGTGACCCAGAGAGAGGGGGCGTGTGAGGCAAGGCCCAAGCCTGCTCTCCGGCACCTCCCACGTGCTGGCGGCTGTGGTTTTCAGATATCAAAATGAGCTCCGGCTTTTAATTGTCTGTCTCCCTGGGCCCTCGGGCATTCTCAAAACAAACTGTGGACCCGCTCAACAAAGAAAATGTGCAGTTCTGAGTGCTTCGCGGGGCTGAGCCCGGCCTATTCCATTTCTCAGGCCAAGTTCATTTGTCACCCCACCAACAAATGGCCCAAGGCGTTTCTGTTTGACCCCCATAGACCCAGCCAGAGGCAAAAAGATGCTTTTAAAGAAATCCCATTGGTCCCAACTCCACAAGTCTCAGCATTCATTGTCCTAACCAAGAAAGCCTCTCTTGGTATTCTCTGGAAGGCAAGAGAGAGAACTAGAGGGTCAGAGCAAGGGTGCCCGCTTGGGAGAGAGGGCAGGATTCTGGTTACAAATCGAGGATGCGCTGGTCACTCAGGCTCCTGTGGTGGACAGCACAGAGGAAATCCCAGCTCATGCTCCTCAGGGATCCTGTGCACTGTGACAGGCACTTCTGAGCCAGGGCACTCACTGTGGCTCGCAGGGTGATGTGCTGAAGACAGTCATTTCCCCAACCAGTCTGTGTGTGTGAGAAGACAACACCAAATTCCTTTCCTTAGCAAAAGCCACAGCCAGCGTTTTTAGTGCTGACATTTTATTTTCTTGTCTTCCAGCTGGTTACATTTTTCAAAAACAGTTTTGAGTCCTGTATGGAAAGCTTCATTGGTGCACACCACAGGATGTGTTCCATGAAGCCATCCCAGGACCAAGTGGTCACAAAGAAGCTAAGAGAAAATGCTGCCTTGGCCCTGCATATAATGAGCCACACAGGGCCGGGGCGGGGGGCGGGGGGGCAGGTAGAGGCGTGGGGGAGAAGGATTCACACCTGAGGTGCAAGAAGAGAAAGGAAGGCCAGAGGAATCTTTCATTGAAGACAGATTGTTTGAGGACAAGCAGCTCCTGTGAAGAGGCTGCCCAGATCCTCTGGTATTTTAACTGGGCAATGAATCAGCATGCCCCACCTGCAGAGCCTCTGCAAGTCCTTTGCCACCTGCCTCAACTTGCAAGTCGCTGTGTCCATCTGCAGCCGACTGTCCTCCTTTCCATCATCCATCATCCGACACATGAATGCAGCTGCTCTGACAGTTTTACAAGCCAGACAGAAGCCCCCTCAGGAAGGGCCCTCTCTGATACCTGCTTCCTAAGTCAGTTTCCTTCAGGGCAGATGAAAACAGCTGTGGCCATTGTTGGGGGTGATCTATCTCTCCCAGCAGAGCCGGTAGTGTTGTGAGAAGCTGGCCCTCCGCGCCACCTCCCCTTGTCTATGACCCTCCAGCCTCCTTTTCCCTTGCTCTGGAATGTGGACTGTTAACCCTCTCATGACCAGACGACTGCCTTCTTGCAATGGACTTGGGAGAGAGCAGTTCTGATGCCTGGGTTCCTTGAGCAGGTAGGATGGATGCTTATAGCCCCACCTGCTGTTGGGAGCGGCTGGACCGTCTGCATTAAACAGAGGCAGTGGGATTCATCCCTGGAACGCGTCTGCCACCTGCTGGAGACAAAAGGAGGGGTGACTGCAGGATGGCAAGTCTCAGGACTGGACGTGATTTCCTTTCCTTTCCTTTCCTTATTTGGAAGTGAAGTAATATTAAAAGGAAAAAGAAGAATCCAGTGGACTTGAACCT 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Task1_train_24650 | The gene NAGS (N-acetylglutamate synthase), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hyperammonemia, type III | AGAATTCCTCAAGCTGGTACCCAGTGACTGGAGTTTGGCAAACCCTGGTAACCTCATGGTCATTCATTAGGATCTTTTTTGAGCTCAGGCAACAGGACAGACAAGGCCAGCACCACCCGCCCCCGCCCTCCCACTGCCCCCCTTCTTCTACTCTTTCCAGCGCCCTCCTTCCAGCCCCCTGCCCAGCCCTGTGCTCAAAGCCACCTACAGTCCCTTCTTCTCTGGTCAGAATGCCAATCATCCAAGGCCCTGCAGACTCCCAAAGCCGCCCCTGGAACCTACCTTGGCAGCAGATTAAAGACAACCCGCCACATTTAGTCTCGGCCCCATGACCGATAGTGGGTTCAGTTCCTCCAGGGGCGGGGGAGCCTAGTGGCCCCGCCCCCTGACTCATGGCCTGACCCTCCTCAAACGCACCCAGAGGAGACTCCTGGTCCCCTGTCCGGACCCCGCCCCGACCAGGTCCAGCCCCGCCCAACGGCAAGTTAAGAGCCCCCCAGTGCCAGACGCTCCAGACAGACTGCCACTCTTGGGGGGCAAGAGTTGGTTGTCGTCATGGCGACGGCGCTGATGGCTGTGGTTCTGCGGGCAGCTGCTGTAGCCCCGAGGCTGAGAGGCCGGGGAGGCACTGGGGGCGCCCGAAGGCTGAGCTGTGGCGCGCGGCGGCGGGCGGCGAGGGGCACCAGCCCGGGGCGCCGGCTCAGCACCGCCTGGTCGCAGCCCCAGCCCCCGCCCGAGGAGTACGCGGGCGCGGACGACGTCTCCCAGTCGCCCGTCGCCGAGGAGCCGTCGTGGGTGCCGAGTCCCAGGCCCCCGGTGCCCCACGAGTCCCCAGAGCCTCCTTCGGGCCGCTCGCTGGTGCAGCGGGACATCCAGGCCTTCCTGAACCAGTGCGGGGCCAGCCCTGGGGAGGCGCGCCACTGGCTCACGCAGTTCCAGACCTGCCATCACTCCGCGGACAAGCCCTTCGCCGTCATCGAGGTGAGCGGAGCCCGGCGTGGGCCGTGACGCAGCGAGGGGATGGGGTTGTGCGGCCACCTGTCCTCAGGCATGGCAGGATACGCTGCGGGCTCTGCGCAGCGGAAGCGGGAAGGAGCCCGGCAGGGCCCAGACCAGCGCCGCCGGGAATGGGAGAGGCCGTAAGCTCCTCCGGAAGCCTCCCGCCCAGCCCGAGTGAGGATCCTGGGGGACCCCACCCGCCAGGTGTGATGCTCTGAAGAAGGCCCCCAACATGGGCGCAGTTAGGGGTTCAGAAGGACCTGGACAGGAGCCGCTTGCACTGCCCCTCCCCCAAAGATGTCCCGGAGTCCAAGGTCGGAGGGAGGAGGGCGGGAGGTACCCCAGCGTGAGACAAGGGAGTGGCAAGACCCAACGGGGCAAAGGGCGGAGCAGGTGGGCACTGGTGGCCAGAACTGGGTCCTGACAGCTTCTGGAAGGGTAGGGTCACCGAGACGGCCCTGCAGGCCAGGCTGTGGGAGCCAGCGGCTCAGGTCCGTGTCACGCTCCTTGAAAGCCCACTCCTCCGCAGGTGGACGAGGAGGTGCTCAAGTGCCAGCAGGGCGTATCCAGTCTGGCCTTTGCCCTGGCCTTCTTGCAGCGCATGGACATGAAGCCGCTGGTGGTCCTGGGGCTGCCGGCCCCTACGGCTCCCTCGGGCTGTCTTTCCTTCTGGGAGGCCAAGGCGCAGCTGGCCAAGAGCTGCAAGGTGCTGGTAGACGCGCTTCGACACAACGCCGCCGCTGCTGTGCCATTTTTTGGCGGCGGGTCTGTGCTACGCGCTGCCGAGCCGGCTCCCCATGCCAGGTGAGTGCCCGCCCTGCCCGCCCAGGCGTCCTCAGAGCGTGCTACTCTGCCCGCCCTGCCCCGTCCGGCAGGCCTGGAGGGGGCCCTCTCGAGCACCACGTCTGGCCCACAGCTACGGCGGCATCGTCTCGGTGGAGACAGACCTGCTGCAGTGGTGCCTGGAGTCGGGCAGCATCCCCATCCTGTGCCCCATCGGGGAGACGGCCGCGCGCCGCTCCGTGCTTCTCGACTCCCTGGAGGTGACCGCGTCGCTGGCCAAGGCGCTGCGGCCCACCAAAATCATCTTCCTCAATAACACAGGCGGCCTGCGCGACAGCAGTCATAAGGTGCGGCCCTTTCTTTCACCTTCCCCCACGCCGGCGATCCGGGCCTTCTCTTGCGCCCCTCGCACTTCTCCCCGACGGGCCGCAGACTCACTAGCAAGCCGGGTGGGTAGAAAAGCCTAAGGGAGTATAGGGGAGGAGTTCAGCCCTGGGTGCCCAGATCTGCGCCCTCCCTGGCTAAGGACTCCGGGCGGAAGTAAGGATAAAGGGGTCAGAGAAAAGAGAGGTCCGTGGGGGTAGGGGGGCAGTCCGTGCCGGCTGTGGGCCAGGCTCACCCGCTGACTCCGGACACAGGTCCTGAGTAACGTGAACCTGCCCGCCGACCTGGACCTGGTGTGCAACGCCGAGTGGGTGAGCACAAAAGAACGGCAGCAGATGCGGCTCATCGTGGACGTGCTCAGCCGCCTGCCCCACCACTCCTCGGCCGTCATCACCGCCGCTAGCACGCTGCTCACTGAGCTCTTTAGCAACAAGGGTGAGGGCGGTGGGCGGGCCGGGGACTGGGTCCCGGGAGTGAGTACTGGCCGGGGCTGGGTGTCTGCGGTCAGGAGGAGCGGCTTCTCCTCCTGTCCAGGAGCCGTAGGGGGAGGCGGGGGGTGTCACAGCAATGGCTCCTGCTGCTGCCGAAACCCGGGGGAGGTGAGAGAGGAGGAGACCCAGTGTACTGGAAGGGAACTCCGAAGGAATTAAAGGAATGGGCGGGACTAGGGGGGAGAAGGAGGGGCCCCCCGGTGGGCGGGGCCAGGGGCGGGACCATAAGGGAGGTGTTCGACCGGGAGAGATGGGCGGGGCTTAGGTGGGTGGGCCGGGTCAGCGGCGGGAGACAGACTTCAAGGAGCGAGGCAAGACTAACGGAAGTGGGTGGGGCTCCAGGCGACAGGAGGAACTTGGGGCACAATCTCTGCCTGGGGAAAGCATCTCCTTGAATGAAAATCACAGACAAATCTATGCAGACCACTGAAATCATTTCACTGTGGAGGTCTCCCAAAGACGGAAATTGTCCCACCAGCGCCTGTCCTACCTGCAGTCCCCACCAGGCTGCGCAAACGGCCCTCCAGCCAGACTAGCCCCTCCCCATCCTCCTCCAGGGTCCGGGACCCTGTTCAAGAACGCCGAGCGAATGCTACGGGTGCGCAGCCTGGACAAGCTGGACCAGGGCCGTCTAGTGGACCTGGTCAACGCCAGCTTCGGCAAGAAGCTCAGGGACGACTACCTGGCCTCGCTGCGCCCGCGGCTGCACTCCATCTACGTCTCCGAGGGGTAAGCCTGCGGACCCCAGAGGGCGGGGTCTGGGGGGCAGTCGGGCAGCTTCGGACCAAGGAGAGGTCCCAGCCTGCCGCTCTCCCGCTGCGCCAGGTACAACGCCGCCGCCATTCTGACCATGGAGCCCGTCCTGGGGGGCACCCCGTACCTGGACAAATTTGTGGTGAGCTCCAGCCGCCAGGGCCAAGGCTCCGGCCAGATGCTGTGGGAGTGCCTGCGGCGGGACCTTCAGACACTTTTCTGGCGCTCCCGGGTCACCAACCCCATCAATCCCTGGTAGGTCCTGCCACTCCCAGCTCTGGGCTGGGCCCTGACTTCCCTCCCCTCTCCCACCCTTGCCAACCATGCCAAGAAGGCTGGGCTTCCTCTTCTTCCACTGGTCTCCCTTTCACTACCTCCCAGGGGCAGAACACACAGAAAGCCTGAGATTTCCCGAGTTAAAGCATGCTTAACACTCCTTTTCTGGCAGCAAGTGACACCTCCTAAGCCCCACGCAGCCCACCTCTCACAGGGGCCTGAGGAATCCTAACCCTTCAGGGTCTATTGGAGGCCTGCGGCGCCTCCAGTGGAACATCCCTCCTCTCTCCTTCAGTAACTACCCCCTCACCCCTACACCCTGCTCTGTGAGCACTAGGAAGTGAGCAAGAACCCTCCTCTTTGCTGCACAGCCAAGGCAGTGTGGAGAGCAAAGCACCCGCTCCCTTCCT 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AGAATTCCTCAAGCTGGTACCCAGTGACTGGAGTTTGGCAAACCCTGGTAACCTCATGGTCATTCATTAGGATCTTTTTTGAGCTCAGGCAACAGGACAGACAAGGCCAGCACCACCCGCCCCCGCCCTCCCACTGCCCCCCTTCTTCTACTCTTTCCAGCGCCCTCCTTCCAGCCCCCTGCCCAGCCCTGTGCTCAAAGCCACCTACAGTCCCTTCTTCTCTGGTCAGAATGCCAATCATCCAAGGCCCTGCAGACTCCCAAAGCCGCCCCTGGAACCTACCTTGGCAGCAGATTAAAGACAACCCGCCACATTTAGTCTCGGCCCCATGACCGATAGTGGGTTCAGTTCCTCCAGGGGCGGGGGAGCCTAGTGGCCCCGCCCCCTGACTCATGGCCTGACCCTCCTCAAACGCACCCAGAGGAGACTCCTGGTCCCCTGTCCGGACCCCGCCCCGACCAGGTCCAGCCCCGCCCAACGGCAAGTTAAGAGCCCCCCAGTGCCAGACGCTCCAGACAGACTGCCACTCTTGGGGGGCAAGAGTTGGTTGTCGTCATGGCGACGGCGCTGATGGCTGTGGTTCTGCGGGCAGCTGCTGTAGCCCCGAGGCTGAGAGGCCGGGGAGGCACTGGGGGCGCCCGAAGGCTGAGCTGTGGCGCGCGGCGGCGGGCGGCGAGGGGCACCAGCCCGGGGCGCCGGCTCAGCACCGCCTGGTCGCAGCCCCAGCCCCCGCCCGAGGAGTACGCGGGCGCGGACGACGTCTCCCAGTCGCCCGTCGCCGAGGAGCCGTCGTGGGTGCCGAGTCCCAGGCCCCCGGTGCCCCACGAGTCCCCAGAGCCTCCTTCGGGCCGCTCGCTGGTGCAGCGGGACATCCAGGCCTTCCTGAACCAGTGCGGGGCCAGCCCTGGGGAGGCGCGCCACTGGCTCACGCAGTTCCAGACCTGCCATCACTCCGCGGACAAGCCCTTCGCCGTCATCGAGGTGAGCGGAGCCCGGCGTGGGCCGTGACGCAGCGAGGGGATGGGGTTGTGCGGCCACCTGTCCTCAGGCATGGCAGGATACGCTGCGGGCTCTGCGCAGCGGAAGCGGGAAGGAGCCCGGCAGGGCCCAGACCAGCGCCGCCGGGAATGGGAGAGGCCGTAAGCTCCTCCGGAAGCCTCCCGCCCAGCCCGAGTGAGGATCCTGGGGGACCCCACCCGCCAGGTGTGATGCTCTGAAGAAGGCCCCCAACATGGGCGCAGTTAGGGGTTCAGAAGGACCTGGACAGGAGCCGCTTGCACTGCCCCTCCCCCAAAGATGTCCCGGAGTCCAAGGTCGGAGGGAGGAGGGCGGGAGGTACCCCAGCGTGAGACAAGGGAGTGGCAAGACCCAACGGGGCAAAGGGCGGAGCAGGTGGGCACTGGTGGCCAGAACTGGGTCCTGACAGCTTCTGGAAGGGTAGGGTCACCGAGACGGCCCTGCAGGCCAGGCTGTGGGAGCCAGCGGCTCAGGTCCGTGTCACGCTCCTTGAAAGCCCACTCCTCCGCAGGTGGACGAGGAGGTGCTCAAGTGCCAGCAGGGCGTATCCAGTCTGGCCTTTGCCCTGGCCTTCTTGCAGCGCATGGACATGAAGCCGCTGGTGGTCCTGGGGCTGCCGGCCCCTACGGCTCCCTCGGGCTGTCTTTCCTTCTGGGAGGCCAAGGCGCAGCTGGCCAAGAGCTGCAAGGTGCTGGTAGACGCGCTTCGACACAACGCCGCCGCTGCTGTGCCATTTTTTGGCGGCGGGTCTGTGCTACGCGCTGCCGAGCCGGCTCCCCATGCCAGGTGAGTGCCCGCCCTGCCCGCCCAGGCGTCCTCAGAGCGTGCTACTCTGCCCGCCCTGCCCCGTCCGGCAGGCCTGGAGGGGGCCCTCTCGAGCACCACGTCTGGCCCACAGCTACGGCGGCATCGTCTCGGTGGAGACAGACCTGCTGCAGTGGTGCCTGGAGTCGGGCAGCATCCCCATCCTGTGCCCCATCGGGGAGACGGCCGCGCGCCGCTCCGTGCTTCTCGACTCCCTGGAGGTGACCACGTCGCTGGCCAAGGCGCTGCGGCCCACCAAAATCATCTTCCTCAATAACACAGGCGGCCTGCGCGACAGCAGTCATAAGGTGCGGCCCTTTCTTTCACCTTCCCCCACGCCGGCGATCCGGGCCTTCTCTTGCGCCCCTCGCACTTCTCCCCGACGGGCCGCAGACTCACTAGCAAGCCGGGTGGGTAGAAAAGCCTAAGGGAGTATAGGGGAGGAGTTCAGCCCTGGGTGCCCAGATCTGCGCCCTCCCTGGCTAAGGACTCCGGGCGGAAGTAAGGATAAAGGGGTCAGAGAAAAGAGAGGTCCGTGGGGGTAGGGGGGCAGTCCGTGCCGGCTGTGGGCCAGGCTCACCCGCTGACTCCGGACACAGGTCCTGAGTAACGTGAACCTGCCCGCCGACCTGGACCTGGTGTGCAACGCCGAGTGGGTGAGCACAAAAGAACGGCAGCAGATGCGGCTCATCGTGGACGTGCTCAGCCGCCTGCCCCACCACTCCTCGGCCGTCATCACCGCCGCTAGCACGCTGCTCACTGAGCTCTTTAGCAACAAGGGTGAGGGCGGTGGGCGGGCCGGGGACTGGGTCCCGGGAGTGAGTACTGGCCGGGGCTGGGTGTCTGCGGTCAGGAGGAGCGGCTTCTCCTCCTGTCCAGGAGCCGTAGGGGGAGGCGGGGGGTGTCACAGCAATGGCTCCTGCTGCTGCCGAAACCCGGGGGAGGTGAGAGAGGAGGAGACCCAGTGTACTGGAAGGGAACTCCGAAGGAATTAAAGGAATGGGCGGGACTAGGGGGGAGAAGGAGGGGCCCCCCGGTGGGCGGGGCCAGGGGCGGGACCATAAGGGAGGTGTTCGACCGGGAGAGATGGGCGGGGCTTAGGTGGGTGGGCCGGGTCAGCGGCGGGAGACAGACTTCAAGGAGCGAGGCAAGACTAACGGAAGTGGGTGGGGCTCCAGGCGACAGGAGGAACTTGGGGCACAATCTCTGCCTGGGGAAAGCATCTCCTTGAATGAAAATCACAGACAAATCTATGCAGACCACTGAAATCATTTCACTGTGGAGGTCTCCCAAAGACGGAAATTGTCCCACCAGCGCCTGTCCTACCTGCAGTCCCCACCAGGCTGCGCAAACGGCCCTCCAGCCAGACTAGCCCCTCCCCATCCTCCTCCAGGGTCCGGGACCCTGTTCAAGAACGCCGAGCGAATGCTACGGGTGCGCAGCCTGGACAAGCTGGACCAGGGCCGTCTAGTGGACCTGGTCAACGCCAGCTTCGGCAAGAAGCTCAGGGACGACTACCTGGCCTCGCTGCGCCCGCGGCTGCACTCCATCTACGTCTCCGAGGGGTAAGCCTGCGGACCCCAGAGGGCGGGGTCTGGGGGGCAGTCGGGCAGCTTCGGACCAAGGAGAGGTCCCAGCCTGCCGCTCTCCCGCTGCGCCAGGTACAACGCCGCCGCCATTCTGACCATGGAGCCCGTCCTGGGGGGCACCCCGTACCTGGACAAATTTGTGGTGAGCTCCAGCCGCCAGGGCCAAGGCTCCGGCCAGATGCTGTGGGAGTGCCTGCGGCGGGACCTTCAGACACTTTTCTGGCGCTCCCGGGTCACCAACCCCATCAATCCCTGGTAGGTCCTGCCACTCCCAGCTCTGGGCTGGGCCCTGACTTCCCTCCCCTCTCCCACCCTTGCCAACCATGCCAAGAAGGCTGGGCTTCCTCTTCTTCCACTGGTCTCCCTTTCACTACCTCCCAGGGGCAGAACACACAGAAAGCCTGAGATTTCCCGAGTTAAAGCATGCTTAACACTCCTTTTCTGGCAGCAAGTGACACCTCCTAAGCCCCACGCAGCCCACCTCTCACAGGGGCCTGAGGAATCCTAACCCTTCAGGGTCTATTGGAGGCCTGCGGCGCCTCCAGTGGAACATCCCTCCTCTCTCCTTCAGTAACTACCCCCTCACCCCTACACCCTGCTCTGTGAGCACTAGGAAGTGAGCAAGAACCCTCCTCTTTGCTGCACAGCCAAGGCAGTGTGGAGAGCAAAGCACCCGCTCCCTTCCT 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Task1_train_24651 | Given this variant in gene NAGS (N-acetylglutamate synthase) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hyperammonemia, type III | CCAGGCTGTGGGAGCCAGCGGCTCAGGTCCGTGTCACGCTCCTTGAAAGCCCACTCCTCCGCAGGTGGACGAGGAGGTGCTCAAGTGCCAGCAGGGCGTATCCAGTCTGGCCTTTGCCCTGGCCTTCTTGCAGCGCATGGACATGAAGCCGCTGGTGGTCCTGGGGCTGCCGGCCCCTACGGCTCCCTCGGGCTGTCTTTCCTTCTGGGAGGCCAAGGCGCAGCTGGCCAAGAGCTGCAAGGTGCTGGTAGACGCGCTTCGACACAACGCCGCCGCTGCTGTGCCATTTTTTGGCGGCGGGTCTGTGCTACGCGCTGCCGAGCCGGCTCCCCATGCCAGGTGAGTGCCCGCCCTGCCCGCCCAGGCGTCCTCAGAGCGTGCTACTCTGCCCGCCCTGCCCCGTCCGGCAGGCCTGGAGGGGGCCCTCTCGAGCACCACGTCTGGCCCACAGCTACGGCGGCATCGTCTCGGTGGAGACAGACCTGCTGCAGTGGTGCCTGGAGTCGGGCAGCATCCCCATCCTGTGCCCCATCGGGGAGACGGCCGCGCGCCGCTCCGTGCTTCTCGACTCCCTGGAGGTGACCGCGTCGCTGGCCAAGGCGCTGCGGCCCACCAAAATCATCTTCCTCAATAACACAGGCGGCCTGCGCGACAGCAGTCATAAGGTGCGGCCCTTTCTTTCACCTTCCCCCACGCCGGCGATCCGGGCCTTCTCTTGCGCCCCTCGCACTTCTCCCCGACGGGCCGCAGACTCACTAGCAAGCCGGGTGGGTAGAAAAGCCTAAGGGAGTATAGGGGAGGAGTTCAGCCCTGGGTGCCCAGATCTGCGCCCTCCCTGGCTAAGGACTCCGGGCGGAAGTAAGGATAAAGGGGTCAGAGAAAAGAGAGGTCCGTGGGGGTAGGGGGGCAGTCCGTGCCGGCTGTGGGCCAGGCTCACCCGCTGACTCCGGACACAGGTCCTGAGTAACGTGAACCTGCCCGCCGACCTGGACCTGGTGTGCAACGCCGAGTGGGTGAGCACAAAAGAACGGCAGCAGATGCGGCTCATCGTGGACGTGCTCAGCCGCCTGCCCCACCACTCCTCGGCCGTCATCACCGCCGCTAGCACGCTGCTCACTGAGCTCTTTAGCAACAAGGGTGAGGGCGGTGGGCGGGCCGGGGACTGGGTCCCGGGAGTGAGTACTGGCCGGGGCTGGGTGTCTGCGGTCAGGAGGAGCGGCTTCTCCTCCTGTCCAGGAGCCGTAGGGGGAGGCGGGGGGTGTCACAGCAATGGCTCCTGCTGCTGCCGAAACCCGGGGGAGGTGAGAGAGGAGGAGACCCAGTGTACTGGAAGGGAACTCCGAAGGAATTAAAGGAATGGGCGGGACTAGGGGGGAGAAGGAGGGGCCCCCCGGTGGGCGGGGCCAGGGGCGGGACCATAAGGGAGGTGTTCGACCGGGAGAGATGGGCGGGGCTTAGGTGGGTGGGCCGGGTCAGCGGCGGGAGACAGACTTCAAGGAGCGAGGCAAGACTAACGGAAGTGGGTGGGGCTCCAGGCGACAGGAGGAACTTGGGGCACAATCTCTGCCTGGGGAAAGCATCTCCTTGAATGAAAATCACAGACAAATCTATGCAGACCACTGAAATCATTTCACTGTGGAGGTCTCCCAAAGACGGAAATTGTCCCACCAGCGCCTGTCCTACCTGCAGTCCCCACCAGGCTGCGCAAACGGCCCTCCAGCCAGACTAGCCCCTCCCCATCCTCCTCCAGGGTCCGGGACCCTGTTCAAGAACGCCGAGCGAATGCTACGGGTGCGCAGCCTGGACAAGCTGGACCAGGGCCGTCTAGTGGACCTGGTCAACGCCAGCTTCGGCAAGAAGCTCAGGGACGACTACCTGGCCTCGCTGCGCCCGCGGCTGCACTCCATCTACGTCTCCGAGGGGTAAGCCTGCGGACCCCAGAGGGCGGGGTCTGGGGGGCAGTCGGGCAGCTTCGGACCAAGGAGAGGTCCCAGCCTGCCGCTCTCCCGCTGCGCCAGGTACAACGCCGCCGCCATTCTGACCATGGAGCCCGTCCTGGGGGGCACCCCGTACCTGGACAAATTTGTGGTGAGCTCCAGCCGCCAGGGCCAAGGCTCCGGCCAGATGCTGTGGGAGTGCCTGCGGCGGGACCTTCAGACACTTTTCTGGCGCTCCCGGGTCACCAACCCCATCAATCCCTGGTAGGTCCTGCCACTCCCAGCTCTGGGCTGGGCCCTGACTTCCCTCCCCTCTCCCACCCTTGCCAACCATGCCAAGAAGGCTGGGCTTCCTCTTCTTCCACTGGTCTCCCTTTCACTACCTCCCAGGGGCAGAACACACAGAAAGCCTGAGATTTCCCGAGTTAAAGCATGCTTAACACTCCTTTTCTGGCAGCAAGTGACACCTCCTAAGCCCCACGCAGCCCACCTCTCACAGGGGCCTGAGGAATCCTAACCCTTCAGGGTCTATTGGAGGCCTGCGGCGCCTCCAGTGGAACATCCCTCCTCTCTCCTTCAGTAACTACCCCCTCACCCCTACACCCTGCTCTGTGAGCACTAGGAAGTGAGCAAGAACCCTCCTCTTTGCTGCACAGCCAAGGCAGTGTGGAGAGCAAAGCACCCGCTCCCTTCCTGTGTGCGCCTGGCAAGGTACCTAACTTCTCTGAGCCTTAGCTGCTTCTCTGTGAGCTGAGCATCACAATGCCAGGCTCAGGCCTCTGCTGTGAGGATAAAATGAGATAACACACAGCAGGACCAAGCTGGGTGCCCAGCATGCAGTAGGTCCTCAATCAATGTTTTTTAAAGACAGAACCAGTGAGTAATGAACACTGGCCTTGCCCTAAAAACTGTTTCCTACATCACCTCCCCACACCCAGGTACTTCAAACACAGTGATGGCAGCTTCTCCAACAAGCAGTGGATCTTCTTCTGGTTTGGCCTGGCTGATATCCGGGACTCCTATGAGTTGGTCAACCACGCCAAGGGACTGCCAGACTCCTTTCACAAGCCAGCTTCTGACCCAGGCAGCTGACCCTCACCATGGACACTACAGGCCCTGGAATGGCCAGGGTGGACCAAAAGCCATGCCAGCTGGGCATGACCCCAGGCAGCCAGCCACAGGCTGAAGGGGGCTTGTTGGCTGAGTGATCTGCAGAGGAGAAAGCAGCCCCAGCTCTGCCCAGAGGAGGCGCTGAAGTGGGACAAGCACAGGAAAGAAGGGGACCAGTCTAGGACCCCAACTCGACTCACTCTAAAGCTACAACCAAATGGCCTTCGATTTTCAACCTGGGGATTAGGGGAGGGGAGGGTGCCTTCCAGGGCTCTACTCAGGACTAACCCTAAGGGTGAGCTAGTTTCTGTGCCTCTGTGCTATGTTTTGAGGCTCCCTTACCCAAAATAATACCCCTGCCTGCGTGATATTCTACCATTCATTTTAATTCCTTTGGGTCTTGCAGTTTTTCAGGAGGCCTTGATTAAAATGCAAATACTTGTCTGAGAGTCAGCTTACACTTGAAAGAAAATTAGAAGTGACCCCGTGGGAGCAAGATTTTTTTTTTTTTTTTAAAGACAGGATCTTGCTCTGTTACCAAGGCTAGAGTACAGTGGTGCAATCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCAATCCTCCCATGTCAGCCTCCTAAATAAGCTGGTACCACAGGCATGCACCGCCACACCTGGATCTTTTTTTTTTGGTAGAGACGAGGTCTCACTATGTTGCCAAGGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTCCCTGCTTGGCCTCCCAAAATGCTAGGATTACAGGCTGGGAGCAAGATCTTGAGGGCTGGGGAATCAGGGGACTCCTGGAGGGAGTAGAAGACTTCTATGATGAATGCTGCCACCATCTCCCTCCCAGAGATTAGGAAGCATCCTCCCTTCCACAGACCAGGCCACAGCAGCCCCAGCTCCCCTTGCCTGTGAGTGCCTCCACCCACAGCTCCCTTTCTAGGCTGGGCTCACAGCCAGACCCAGGCATCAGTGGCGGACCGTTTACCTGCAAGAGCCCAGAGAAGTTAAAAGATGGCTTTGGCTTAAAAGC 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CCAGGCTGTGGGAGCCAGCGGCTCAGGTCCGTGTCACGCTCCTTGAAAGCCCACTCCTCCGCAGGTGGACGAGGAGGTGCTCAAGTGCCAGCAGGGCGTATCCAGTCTGGCCTTTGCCCTGGCCTTCTTGCAGCGCATGGACATGAAGCCGCTGGTGGTCCTGGGGCTGCCGGCCCCTACGGCTCCCTCGGGCTGTCTTTCCTTCTGGGAGGCCAAGGCGCAGCTGGCCAAGAGCTGCAAGGTGCTGGTAGACGCGCTTCGACACAACGCCGCCGCTGCTGTGCCATTTTTTGGCGGCGGGTCTGTGCTACGCGCTGCCGAGCCGGCTCCCCATGCCAGGTGAGTGCCCGCCCTGCCCGCCCAGGCGTCCTCAGAGCGTGCTACTCTGCCCGCCCTGCCCCGTCCGGCAGGCCTGGAGGGGGCCCTCTCGAGCACCACGTCTGGCCCACAGCTACGGCGGCATCGTCTCGGTGGAGACAGACCTGCTGCAGTGGTGCCTGGAGTCGGGCAGCATCCCCATCCTGTGCCCCATCGGGGAGACGGCCGCGCGCCGCTCCGTGCTTCTCGACTCCCTGGAGGTGACCGCGTCGCTGGCCAAGGCGCTGCGGCCCACCAAAATCATCTTCCTCAATAACACAGGCGGCCTGCGCGACAGCAGTCATAAGGTGCGGCCCTTTCTTTCACCTTCCCCCACGCCGGCGATCCGGGCCTTCTCTTGCGCCCCTCGCACTTCTCCCCGACGGGCCGCAGACTCACTAGCAAGCCGGGTGGGTAGAAAAGCCTAAGGGAGTATAGGGGAGGAGTTCAGCCCTGGGTGCCCAGATCTGCGCCCTCCCTGGCTAAGGACTCCGGGCGGAAGTAAGGATAAAGGGGTCAGAGAAAAGAGAGGTCCGTGGGGGTAGGGGGGCAGTCCGTGCCGGCTGTGGGCCAGGCTCACCCGCTGACTCCGGACACAGGTCCTGAGTAACGTGAACCTGCCCGCCGACCTGGACCTGGTGTGCAACGCCGAGTGGGTGAGCACAAAAGAACGGCAGCAGATGCGGCTCATCGTGGACGTGCTCAGCCGCCTGCCCCACCACTCCTCGGCCGTCATCACCGCCGCTAGCACGCTGCTCACTGAGCTCTTTAGCAACAAGGGTGAGGGCGGTGGGCGGGCCGGGGACTGGGTCCCGGGAGTGAGTACTGGCCGGGGCTGGGTGTCTGCGGTCAGGAGGAGCGGCTTCTCCTCCTGTCCAGGAGCCGTAGGGGGAGGCGGGGGGTGTCACAGCAATGGCTCCTGCTGCTGCCGAAACCCGGGGGAGGTGAGAGAGGAGGAGACCCAGTGTACTGGAAGGGAACTCCGAAGGAATTAAAGGAATGGGCGGGACTAGGGGGGAGAAGGAGGGGCCCCCCGGTGGGCGGGGCCAGGGGCGGGACCATAAGGGAGGTGTTCGACCGGGAGAGATGGGCGGGGCTTAGGTGGGTGGGCCGGGTCAGCGGCGGGAGACAGACTTCAAGGAGCGAGGCAAGACTAACGGAAGTGGGTGGGGCTCCAGGCGACAGGAGGAACTTGGGGCACAATCTCTGCCTGGGGAAAGCATCTCCTTGAATGAAAATCACAGACAAATCTATGCAGACCACTGAAATCATTTCACTGTGGAGGTCTCCCAAAGACGGAAATTGTCCCACCAGCGCCTGTCCTACCTGCAGTCCCCACCAGGCTGCGCAAACGGCCCTCCAGCCAGACTAGCCCCTCCCCATCCTCCTCCAGGGTCCGGGACCCTGTTCAAGAACGCCGAGCGAATGCTACGGGTGCGCAGCCTGGACAAGCTGGACCAGGGCCGTCTAGTGGACCTGGTCAACGCCAGCTTCGGCAAGAAGCTCAGGGACGACTACCTGGCCTCGCTGCGCCCGCGGCTGCACTCCATCTACGTCTCCGAGGGGTAAGCCTGCGGACCCCAGAGGGCGGGGTCTGGGGGGCAGTCGGGCAGCTTCGGACCAAGGAGAGGTCCCAGCCTGCCGCTCTCCCGCTGCGCCAGGTACAACGCCGCCGCCATTCTGACCATGGACCCCGTCCTGGGGGGCACCCCGTACCTGGACAAATTTGTGGTGAGCTCCAGCCGCCAGGGCCAAGGCTCCGGCCAGATGCTGTGGGAGTGCCTGCGGCGGGACCTTCAGACACTTTTCTGGCGCTCCCGGGTCACCAACCCCATCAATCCCTGGTAGGTCCTGCCACTCCCAGCTCTGGGCTGGGCCCTGACTTCCCTCCCCTCTCCCACCCTTGCCAACCATGCCAAGAAGGCTGGGCTTCCTCTTCTTCCACTGGTCTCCCTTTCACTACCTCCCAGGGGCAGAACACACAGAAAGCCTGAGATTTCCCGAGTTAAAGCATGCTTAACACTCCTTTTCTGGCAGCAAGTGACACCTCCTAAGCCCCACGCAGCCCACCTCTCACAGGGGCCTGAGGAATCCTAACCCTTCAGGGTCTATTGGAGGCCTGCGGCGCCTCCAGTGGAACATCCCTCCTCTCTCCTTCAGTAACTACCCCCTCACCCCTACACCCTGCTCTGTGAGCACTAGGAAGTGAGCAAGAACCCTCCTCTTTGCTGCACAGCCAAGGCAGTGTGGAGAGCAAAGCACCCGCTCCCTTCCTGTGTGCGCCTGGCAAGGTACCTAACTTCTCTGAGCCTTAGCTGCTTCTCTGTGAGCTGAGCATCACAATGCCAGGCTCAGGCCTCTGCTGTGAGGATAAAATGAGATAACACACAGCAGGACCAAGCTGGGTGCCCAGCATGCAGTAGGTCCTCAATCAATGTTTTTTAAAGACAGAACCAGTGAGTAATGAACACTGGCCTTGCCCTAAAAACTGTTTCCTACATCACCTCCCCACACCCAGGTACTTCAAACACAGTGATGGCAGCTTCTCCAACAAGCAGTGGATCTTCTTCTGGTTTGGCCTGGCTGATATCCGGGACTCCTATGAGTTGGTCAACCACGCCAAGGGACTGCCAGACTCCTTTCACAAGCCAGCTTCTGACCCAGGCAGCTGACCCTCACCATGGACACTACAGGCCCTGGAATGGCCAGGGTGGACCAAAAGCCATGCCAGCTGGGCATGACCCCAGGCAGCCAGCCACAGGCTGAAGGGGGCTTGTTGGCTGAGTGATCTGCAGAGGAGAAAGCAGCCCCAGCTCTGCCCAGAGGAGGCGCTGAAGTGGGACAAGCACAGGAAAGAAGGGGACCAGTCTAGGACCCCAACTCGACTCACTCTAAAGCTACAACCAAATGGCCTTCGATTTTCAACCTGGGGATTAGGGGAGGGGAGGGTGCCTTCCAGGGCTCTACTCAGGACTAACCCTAAGGGTGAGCTAGTTTCTGTGCCTCTGTGCTATGTTTTGAGGCTCCCTTACCCAAAATAATACCCCTGCCTGCGTGATATTCTACCATTCATTTTAATTCCTTTGGGTCTTGCAGTTTTTCAGGAGGCCTTGATTAAAATGCAAATACTTGTCTGAGAGTCAGCTTACACTTGAAAGAAAATTAGAAGTGACCCCGTGGGAGCAAGATTTTTTTTTTTTTTTTAAAGACAGGATCTTGCTCTGTTACCAAGGCTAGAGTACAGTGGTGCAATCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCAATCCTCCCATGTCAGCCTCCTAAATAAGCTGGTACCACAGGCATGCACCGCCACACCTGGATCTTTTTTTTTTGGTAGAGACGAGGTCTCACTATGTTGCCAAGGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTCCCTGCTTGGCCTCCCAAAATGCTAGGATTACAGGCTGGGAGCAAGATCTTGAGGGCTGGGGAATCAGGGGACTCCTGGAGGGAGTAGAAGACTTCTATGATGAATGCTGCCACCATCTCCCTCCCAGAGATTAGGAAGCATCCTCCCTTCCACAGACCAGGCCACAGCAGCCCCAGCTCCCCTTGCCTGTGAGTGCCTCCACCCACAGCTCCCTTTCTAGGCTGGGCTCACAGCCAGACCCAGGCATCAGTGGCGGACCGTTTACCTGCAAGAGCCCAGAGAAGTTAAAAGATGGCTTTGGCTTAAAAGC 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Task1_train_24652 | A variant found in Chromosome 17 affects NAGS (N-acetylglutamate synthase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Hyperammonemia, type III | CTGGTGGTCCTGGGGCTGCCGGCCCCTACGGCTCCCTCGGGCTGTCTTTCCTTCTGGGAGGCCAAGGCGCAGCTGGCCAAGAGCTGCAAGGTGCTGGTAGACGCGCTTCGACACAACGCCGCCGCTGCTGTGCCATTTTTTGGCGGCGGGTCTGTGCTACGCGCTGCCGAGCCGGCTCCCCATGCCAGGTGAGTGCCCGCCCTGCCCGCCCAGGCGTCCTCAGAGCGTGCTACTCTGCCCGCCCTGCCCCGTCCGGCAGGCCTGGAGGGGGCCCTCTCGAGCACCACGTCTGGCCCACAGCTACGGCGGCATCGTCTCGGTGGAGACAGACCTGCTGCAGTGGTGCCTGGAGTCGGGCAGCATCCCCATCCTGTGCCCCATCGGGGAGACGGCCGCGCGCCGCTCCGTGCTTCTCGACTCCCTGGAGGTGACCGCGTCGCTGGCCAAGGCGCTGCGGCCCACCAAAATCATCTTCCTCAATAACACAGGCGGCCTGCGCGACAGCAGTCATAAGGTGCGGCCCTTTCTTTCACCTTCCCCCACGCCGGCGATCCGGGCCTTCTCTTGCGCCCCTCGCACTTCTCCCCGACGGGCCGCAGACTCACTAGCAAGCCGGGTGGGTAGAAAAGCCTAAGGGAGTATAGGGGAGGAGTTCAGCCCTGGGTGCCCAGATCTGCGCCCTCCCTGGCTAAGGACTCCGGGCGGAAGTAAGGATAAAGGGGTCAGAGAAAAGAGAGGTCCGTGGGGGTAGGGGGGCAGTCCGTGCCGGCTGTGGGCCAGGCTCACCCGCTGACTCCGGACACAGGTCCTGAGTAACGTGAACCTGCCCGCCGACCTGGACCTGGTGTGCAACGCCGAGTGGGTGAGCACAAAAGAACGGCAGCAGATGCGGCTCATCGTGGACGTGCTCAGCCGCCTGCCCCACCACTCCTCGGCCGTCATCACCGCCGCTAGCACGCTGCTCACTGAGCTCTTTAGCAACAAGGGTGAGGGCGGTGGGCGGGCCGGGGACTGGGTCCCGGGAGTGAGTACTGGCCGGGGCTGGGTGTCTGCGGTCAGGAGGAGCGGCTTCTCCTCCTGTCCAGGAGCCGTAGGGGGAGGCGGGGGGTGTCACAGCAATGGCTCCTGCTGCTGCCGAAACCCGGGGGAGGTGAGAGAGGAGGAGACCCAGTGTACTGGAAGGGAACTCCGAAGGAATTAAAGGAATGGGCGGGACTAGGGGGGAGAAGGAGGGGCCCCCCGGTGGGCGGGGCCAGGGGCGGGACCATAAGGGAGGTGTTCGACCGGGAGAGATGGGCGGGGCTTAGGTGGGTGGGCCGGGTCAGCGGCGGGAGACAGACTTCAAGGAGCGAGGCAAGACTAACGGAAGTGGGTGGGGCTCCAGGCGACAGGAGGAACTTGGGGCACAATCTCTGCCTGGGGAAAGCATCTCCTTGAATGAAAATCACAGACAAATCTATGCAGACCACTGAAATCATTTCACTGTGGAGGTCTCCCAAAGACGGAAATTGTCCCACCAGCGCCTGTCCTACCTGCAGTCCCCACCAGGCTGCGCAAACGGCCCTCCAGCCAGACTAGCCCCTCCCCATCCTCCTCCAGGGTCCGGGACCCTGTTCAAGAACGCCGAGCGAATGCTACGGGTGCGCAGCCTGGACAAGCTGGACCAGGGCCGTCTAGTGGACCTGGTCAACGCCAGCTTCGGCAAGAAGCTCAGGGACGACTACCTGGCCTCGCTGCGCCCGCGGCTGCACTCCATCTACGTCTCCGAGGGGTAAGCCTGCGGACCCCAGAGGGCGGGGTCTGGGGGGCAGTCGGGCAGCTTCGGACCAAGGAGAGGTCCCAGCCTGCCGCTCTCCCGCTGCGCCAGGTACAACGCCGCCGCCATTCTGACCATGGAGCCCGTCCTGGGGGGCACCCCGTACCTGGACAAATTTGTGGTGAGCTCCAGCCGCCAGGGCCAAGGCTCCGGCCAGATGCTGTGGGAGTGCCTGCGGCGGGACCTTCAGACACTTTTCTGGCGCTCCCGGGTCACCAACCCCATCAATCCCTGGTAGGTCCTGCCACTCCCAGCTCTGGGCTGGGCCCTGACTTCCCTCCCCTCTCCCACCCTTGCCAACCATGCCAAGAAGGCTGGGCTTCCTCTTCTTCCACTGGTCTCCCTTTCACTACCTCCCAGGGGCAGAACACACAGAAAGCCTGAGATTTCCCGAGTTAAAGCATGCTTAACACTCCTTTTCTGGCAGCAAGTGACACCTCCTAAGCCCCACGCAGCCCACCTCTCACAGGGGCCTGAGGAATCCTAACCCTTCAGGGTCTATTGGAGGCCTGCGGCGCCTCCAGTGGAACATCCCTCCTCTCTCCTTCAGTAACTACCCCCTCACCCCTACACCCTGCTCTGTGAGCACTAGGAAGTGAGCAAGAACCCTCCTCTTTGCTGCACAGCCAAGGCAGTGTGGAGAGCAAAGCACCCGCTCCCTTCCTGTGTGCGCCTGGCAAGGTACCTAACTTCTCTGAGCCTTAGCTGCTTCTCTGTGAGCTGAGCATCACAATGCCAGGCTCAGGCCTCTGCTGTGAGGATAAAATGAGATAACACACAGCAGGACCAAGCTGGGTGCCCAGCATGCAGTAGGTCCTCAATCAATGTTTTTTAAAGACAGAACCAGTGAGTAATGAACACTGGCCTTGCCCTAAAAACTGTTTCCTACATCACCTCCCCACACCCAGGTACTTCAAACACAGTGATGGCAGCTTCTCCAACAAGCAGTGGATCTTCTTCTGGTTTGGCCTGGCTGATATCCGGGACTCCTATGAGTTGGTCAACCACGCCAAGGGACTGCCAGACTCCTTTCACAAGCCAGCTTCTGACCCAGGCAGCTGACCCTCACCATGGACACTACAGGCCCTGGAATGGCCAGGGTGGACCAAAAGCCATGCCAGCTGGGCATGACCCCAGGCAGCCAGCCACAGGCTGAAGGGGGCTTGTTGGCTGAGTGATCTGCAGAGGAGAAAGCAGCCCCAGCTCTGCCCAGAGGAGGCGCTGAAGTGGGACAAGCACAGGAAAGAAGGGGACCAGTCTAGGACCCCAACTCGACTCACTCTAAAGCTACAACCAAATGGCCTTCGATTTTCAACCTGGGGATTAGGGGAGGGGAGGGTGCCTTCCAGGGCTCTACTCAGGACTAACCCTAAGGGTGAGCTAGTTTCTGTGCCTCTGTGCTATGTTTTGAGGCTCCCTTACCCAAAATAATACCCCTGCCTGCGTGATATTCTACCATTCATTTTAATTCCTTTGGGTCTTGCAGTTTTTCAGGAGGCCTTGATTAAAATGCAAATACTTGTCTGAGAGTCAGCTTACACTTGAAAGAAAATTAGAAGTGACCCCGTGGGAGCAAGATTTTTTTTTTTTTTTTAAAGACAGGATCTTGCTCTGTTACCAAGGCTAGAGTACAGTGGTGCAATCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCAATCCTCCCATGTCAGCCTCCTAAATAAGCTGGTACCACAGGCATGCACCGCCACACCTGGATCTTTTTTTTTTGGTAGAGACGAGGTCTCACTATGTTGCCAAGGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTCCCTGCTTGGCCTCCCAAAATGCTAGGATTACAGGCTGGGAGCAAGATCTTGAGGGCTGGGGAATCAGGGGACTCCTGGAGGGAGTAGAAGACTTCTATGATGAATGCTGCCACCATCTCCCTCCCAGAGATTAGGAAGCATCCTCCCTTCCACAGACCAGGCCACAGCAGCCCCAGCTCCCCTTGCCTGTGAGTGCCTCCACCCACAGCTCCCTTTCTAGGCTGGGCTCACAGCCAGACCCAGGCATCAGTGGCGGACCGTTTACCTGCAAGAGCCCAGAGAAGTTAAAAGATGGCTTTGGCTTAAAAGCTCAAACTTGGACGTTTTCCCCTAGGCCCTACTAGTGGTTGTGTCCAGTCTCTACAGGACTCGATGGGCAGAAATCCAAAGCCCAGGGGTTTCATTTGACATTTTTTGAAGCTCCATAATGTAGCAGGCACCATACCGGCTGCTGCTGGGGT 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CTGGTGGTCCTGGGGCTGCCGGCCCCTACGGCTCCCTCGGGCTGTCTTTCCTTCTGGGAGGCCAAGGCGCAGCTGGCCAAGAGCTGCAAGGTGCTGGTAGACGCGCTTCGACACAACGCCGCCGCTGCTGTGCCATTTTTTGGCGGCGGGTCTGTGCTACGCGCTGCCGAGCCGGCTCCCCATGCCAGGTGAGTGCCCGCCCTGCCCGCCCAGGCGTCCTCAGAGCGTGCTACTCTGCCCGCCCTGCCCCGTCCGGCAGGCCTGGAGGGGGCCCTCTCGAGCACCACGTCTGGCCCACAGCTACGGCGGCATCGTCTCGGTGGAGACAGACCTGCTGCAGTGGTGCCTGGAGTCGGGCAGCATCCCCATCCTGTGCCCCATCGGGGAGACGGCCGCGCGCCGCTCCGTGCTTCTCGACTCCCTGGAGGTGACCGCGTCGCTGGCCAAGGCGCTGCGGCCCACCAAAATCATCTTCCTCAATAACACAGGCGGCCTGCGCGACAGCAGTCATAAGGTGCGGCCCTTTCTTTCACCTTCCCCCACGCCGGCGATCCGGGCCTTCTCTTGCGCCCCTCGCACTTCTCCCCGACGGGCCGCAGACTCACTAGCAAGCCGGGTGGGTAGAAAAGCCTAAGGGAGTATAGGGGAGGAGTTCAGCCCTGGGTGCCCAGATCTGCGCCCTCCCTGGCTAAGGACTCCGGGCGGAAGTAAGGATAAAGGGGTCAGAGAAAAGAGAGGTCCGTGGGGGTAGGGGGGCAGTCCGTGCCGGCTGTGGGCCAGGCTCACCCGCTGACTCCGGACACAGGTCCTGAGTAACGTGAACCTGCCCGCCGACCTGGACCTGGTGTGCAACGCCGAGTGGGTGAGCACAAAAGAACGGCAGCAGATGCGGCTCATCGTGGACGTGCTCAGCCGCCTGCCCCACCACTCCTCGGCCGTCATCACCGCCGCTAGCACGCTGCTCACTGAGCTCTTTAGCAACAAGGGTGAGGGCGGTGGGCGGGCCGGGGACTGGGTCCCGGGAGTGAGTACTGGCCGGGGCTGGGTGTCTGCGGTCAGGAGGAGCGGCTTCTCCTCCTGTCCAGGAGCCGTAGGGGGAGGCGGGGGGTGTCACAGCAATGGCTCCTGCTGCTGCCGAAACCCGGGGGAGGTGAGAGAGGAGGAGACCCAGTGTACTGGAAGGGAACTCCGAAGGAATTAAAGGAATGGGCGGGACTAGGGGGGAGAAGGAGGGGCCCCCCGGTGGGCGGGGCCAGGGGCGGGACCATAAGGGAGGTGTTCGACCGGGAGAGATGGGCGGGGCTTAGGTGGGTGGGCCGGGTCAGCGGCGGGAGACAGACTTCAAGGAGCGAGGCAAGACTAACGGAAGTGGGTGGGGCTCCAGGCGACAGGAGGAACTTGGGGCACAATCTCTGCCTGGGGAAAGCATCTCCTTGAATGAAAATCACAGACAAATCTATGCAGACCACTGAAATCATTTCACTGTGGAGGTCTCCCAAAGACGGAAATTGTCCCACCAGCGCCTGTCCTACCTGCAGTCCCCACCAGGCTGCGCAAACGGCCCTCCAGCCAGACTAGCCCCTCCCCATCCTCCTCCAGGGTCCGGGACCCTGTTCAAGAACGCCGAGCGAATGCTACGGGTGCGCAGCCTGGACAAGCTGGACCAGGGCCGTCTAGTGGACCTGGTCAACGCCAGCTTCGGCAAGAAGCTCAGGGACGACTACCTGGCCTCGCTGCGCCCGCGGCTGCACTCCATCTACGTCTCCGAGGGGTAAGCCTGCGGACCCCAGAGGGCGGGGTCTGGGGGGCAGTCGGGCAGCTTCGGACCAAGGAGAGGTCCCAGCCTGCCGCTCTCCCGCTGCGCCAGGTACAACGCCGCCGCCATTCTGACCATGGAGCCCGTCCTGGGGGGCACCCCGTACCTGGACAAATTTGTGGTGAGCTCCAGCCGCCAGGGCCAAGGCTCCGGCCAGATGCTGTGGGAGTGCCTGCGGCGGGACCTTCAGACACTTTTCTGGCGCTCCCGGGTCACCAACCCCATCAATCCCCGGTAGGTCCTGCCACTCCCAGCTCTGGGCTGGGCCCTGACTTCCCTCCCCTCTCCCACCCTTGCCAACCATGCCAAGAAGGCTGGGCTTCCTCTTCTTCCACTGGTCTCCCTTTCACTACCTCCCAGGGGCAGAACACACAGAAAGCCTGAGATTTCCCGAGTTAAAGCATGCTTAACACTCCTTTTCTGGCAGCAAGTGACACCTCCTAAGCCCCACGCAGCCCACCTCTCACAGGGGCCTGAGGAATCCTAACCCTTCAGGGTCTATTGGAGGCCTGCGGCGCCTCCAGTGGAACATCCCTCCTCTCTCCTTCAGTAACTACCCCCTCACCCCTACACCCTGCTCTGTGAGCACTAGGAAGTGAGCAAGAACCCTCCTCTTTGCTGCACAGCCAAGGCAGTGTGGAGAGCAAAGCACCCGCTCCCTTCCTGTGTGCGCCTGGCAAGGTACCTAACTTCTCTGAGCCTTAGCTGCTTCTCTGTGAGCTGAGCATCACAATGCCAGGCTCAGGCCTCTGCTGTGAGGATAAAATGAGATAACACACAGCAGGACCAAGCTGGGTGCCCAGCATGCAGTAGGTCCTCAATCAATGTTTTTTAAAGACAGAACCAGTGAGTAATGAACACTGGCCTTGCCCTAAAAACTGTTTCCTACATCACCTCCCCACACCCAGGTACTTCAAACACAGTGATGGCAGCTTCTCCAACAAGCAGTGGATCTTCTTCTGGTTTGGCCTGGCTGATATCCGGGACTCCTATGAGTTGGTCAACCACGCCAAGGGACTGCCAGACTCCTTTCACAAGCCAGCTTCTGACCCAGGCAGCTGACCCTCACCATGGACACTACAGGCCCTGGAATGGCCAGGGTGGACCAAAAGCCATGCCAGCTGGGCATGACCCCAGGCAGCCAGCCACAGGCTGAAGGGGGCTTGTTGGCTGAGTGATCTGCAGAGGAGAAAGCAGCCCCAGCTCTGCCCAGAGGAGGCGCTGAAGTGGGACAAGCACAGGAAAGAAGGGGACCAGTCTAGGACCCCAACTCGACTCACTCTAAAGCTACAACCAAATGGCCTTCGATTTTCAACCTGGGGATTAGGGGAGGGGAGGGTGCCTTCCAGGGCTCTACTCAGGACTAACCCTAAGGGTGAGCTAGTTTCTGTGCCTCTGTGCTATGTTTTGAGGCTCCCTTACCCAAAATAATACCCCTGCCTGCGTGATATTCTACCATTCATTTTAATTCCTTTGGGTCTTGCAGTTTTTCAGGAGGCCTTGATTAAAATGCAAATACTTGTCTGAGAGTCAGCTTACACTTGAAAGAAAATTAGAAGTGACCCCGTGGGAGCAAGATTTTTTTTTTTTTTTTAAAGACAGGATCTTGCTCTGTTACCAAGGCTAGAGTACAGTGGTGCAATCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCAATCCTCCCATGTCAGCCTCCTAAATAAGCTGGTACCACAGGCATGCACCGCCACACCTGGATCTTTTTTTTTTGGTAGAGACGAGGTCTCACTATGTTGCCAAGGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTCCCTGCTTGGCCTCCCAAAATGCTAGGATTACAGGCTGGGAGCAAGATCTTGAGGGCTGGGGAATCAGGGGACTCCTGGAGGGAGTAGAAGACTTCTATGATGAATGCTGCCACCATCTCCCTCCCAGAGATTAGGAAGCATCCTCCCTTCCACAGACCAGGCCACAGCAGCCCCAGCTCCCCTTGCCTGTGAGTGCCTCCACCCACAGCTCCCTTTCTAGGCTGGGCTCACAGCCAGACCCAGGCATCAGTGGCGGACCGTTTACCTGCAAGAGCCCAGAGAAGTTAAAAGATGGCTTTGGCTTAAAAGCTCAAACTTGGACGTTTTCCCCTAGGCCCTACTAGTGGTTGTGTCCAGTCTCTACAGGACTCGATGGGCAGAAATCCAAAGCCCAGGGGTTTCATTTGACATTTTTTGAAGCTCCATAATGTAGCAGGCACCATACCGGCTGCTGCTGGGGT 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Task1_train_24653 | This sequence change occurs on Chromosome 17, altering G6PC3, LOC130060959 (glucose-6-phosphatase catalytic subunit 3| ATAC-STARR-seq lymphoblastoid active region 12250). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | AAATTAGCCAGGTGTGGTGGTGGGTGCCTGTAGTGCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCATCCTGGGGGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAACTTCCTGGTGTTGGAGGTATTGGTATAATCATTGTAATAGGAATAAAAATTCTGTTCACTACAAAGGCAATAAACGAAGATTTATATCCAGCTTCCCTCCTTTACACCTTTTTTTTTTTTTGGAGACGGAATTTCTGTCTTGTTGCCCAAGCTGGAATGCAATGGCACAATCTTGGCTCACCACAGCCTCCACGTCCTGGGCTCAAGCGATTCACCTCTCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCCAGCTAATTTTGTGTTTTTAGTAGAGACACGGTTTGGTTTCTCCACGTTGGTCAGACTAGTCTCCAACTCCTGACCTCAGGTGATCCACCCACCCTGGCCTTCCAAAGTGCTGGGATTACAGGGGTGAGCCACTGTGCCCAGCACCTTTTTTATTTTTTATTTTTTTTTATTTTTTGAGATAGAGTCTCGCCCTGTCGCCCAGGCTGGAGTGCAGTGGTCCCATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCTAGTAGCTGAGACTACAGGCGCGTGCCCCCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTAACTATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTTGTGATCCGACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCGCCGCGCCCGGCAAAAAAAAAAAAAAAAAAAAAACTTTTCAAGAACAAAGTTGATTGAGGTAGGAAGAAACTAAGGAGACACTGTTCAACAGTATTCTAGGCAGGACCTCGCCTAGAATAGCTGAGATTTCTATTTTCTATGTGAGTTCCCCCAGATGACTGTTTCAAACTCTGTCGCGGGTGTGTGCCAATCCTCTTCCCATACCAACACTGTTACTATCTCTTGGTTTCATCTGCCTAAGCAGGGTTTTGGATGGCAGGAGGATGGGGGTGGGGGAAGCAAGGGAAGAACTGGAAGGAAGTGTGACTTTGCGCTATATGTGAGAATTCGCCTTTTTAGGGAAGACCCCTCAAAATCAAGAGACTTATCTGTCAGCCTCCAGATTAATAGCAGGCGAATTAGAAAGGGGGAGTCTTGAGGCTGGGGAGGAAGGAGTGAACTGATTAGGGGTGTATGCAAATTTAGGATCCCGCTTCAGCTCCCAGGAGGAGGGGCTGTCTGCAGCCTTTTCTCCAAAGGATCTCAGATTTATTTATTTTTTTGCTGTTTGTTTTTTTTTTTTTTTTTTTGGTGGGTATTGGTGCTGGAGAAGAGAGGTCCGGTGGGGAAAGAATCCCGGCCCTGGAGATTATATATCCGCCTTCGCATCAGCGGAGCAGGGACGCTGGGAGCGCGCGCGGCCCGCCGGCTAGTCAGTCCCCTGACCCGGAACCGCACTGGTGCCGCCGCTAGCCGGCTGCCCACGTGCCTGCAACAGTGGCCACGTGGGGCCCTGAGGAAACGCCTTTACAAAGGTTTGTCCCCTGCGCTGCCCAGTAGGGAGGAAAACCGGAGGAGAGCGCAGGAGGAAACAGTACCGGCTGGAGGCCGGTCTTGCAGGAGCGGGGGACTGCTGGGGGCGGGGCTTGGTGGTGACCGCTGGCGGGGCGGGGCCTGGGGCTCAGAGGGGTGGGCTTTGGAGATCAGAGGGTCGACGCTGCTTCGTTGCCTGGACTCTGGTTTCCGCCCTGGAGCAAGCCGGGGCCTGGTCGGCAGCTGGGCCGCCATGGAGTCCACGCTGGGCGCGGGCATCGTGATAGCCGAGGCGCTACAGAACCAGCTAGCCTGGCTGGAGAACGTGTGGCTCTGGATCACCTTTCTGGGCGATCCCAAGATCCTCTTTCTGTTCTACTTCCCCGCGGCCTACTACGCCTCCCGCCGTGTGGGCATCGCGGTGCTCTGGATCAGCCTCATCACCGAGTGGCTCAACCTCATCTTCAAGTGGTGAGACAGAGAAGCCCTCCGGCATCCTGGTCCCCACCCCCGAGGGCCCTGAGTCATGTGTAAGCCCTGGTCTCTTTCAGCAACTGTCTCAAGGGCCTTCCCACCCCTACTCTGTAGTCCCTGATTTTTTTTCCCCTTGAGCATCTTTGTGCAGCTTGGACTCAAACCTCAGAGTCCAACCATCCTACTCATTAGACCAGTGTTCTTCAAACTGGTCTGATGGAAAAATCACCTAAGGGGCGTGTCTAAAATGTAAATATCCCATCCTCATCTCACACTTACTAATTTAGAAACTCCAAGGGGTTGGGAATTTATTTTTTATTTTTTATTTTTGGTTTATGGGAATTCATATTTTAACAAATATGGTGATTTAAGTAGTGGAGAGTCCTACCTCTCAACTCACTTTTTCATTCATGTATTCATTCATTTGCTATAATTTTTCAGAAGCATGCTTTGTGCTGGGCATCACGGTAGCTGCTAAGGACAGAGACACCTTGCAGATTAAGGTGTGGTCCCTGGACCATGCCCAACGGCATAGGCAGCACTTGAAAACTGGCTAAAAACGCAGACTCTCAGGCCCCGGGCCAGAGCTACTGAATCAAAATCTGCATTTTAACAAGGTTCCCAGGTGATTCCCTGTGCGTATGCAGTAAAGTTTGGGCTAAAGCACTGCTTTCCAGGGAACACTTTCTCTTCTTTCTCTTTCATTCACCAGTAGACTCTTCACACTGAGACTTAGAAGCCAGGAATCCCAGGGACATGGGTGGAGGCCCTGTGGCCCCTGGGGCTGGGCATGCAGCCACACCTCCCTTCACCTCAGCCTCTGTTGCCAGATCCTCAGCCTGGGGGAAGGAAGGGAGGCTCATAGGAGGTATTTCAATGAGCTGGAATGACTTGCTGAAAAACAACATAGAGTTCCCCTCCCTTCCACTCTTTTCCACGAGGGCCTCATCCTTATGTAAAGGGAACCACAGTGATCTGTTCACTTCTTTCTTGCCTAATTGCCCTTTGCTTTGTGCTCTCCTCTCTCAAAGTCTGTATAAGCCTCCCCCTCTATTCCTTGTCCCCCAAAGATCACAATCTCCTTCAGACACTATTAATGTCCCCCAAGTGGCAAAGTCCCTATTCATTTTCATTTTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCAGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAAACTCCGTCTCCCGGCTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATCACAGGCGTGTGCCACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTCGCCTTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCGCTTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCAACCTGGCATTCTTTTTTTTTTTTTTTTTATTCTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGCGTGCAATGGCATGATCTTGGCTCACTGAAACCTCTTTGTCTCTCAGGTTCAAGAGATTCTTCTGCCTCAGCCTCCCCAGTAGCTGTGATTATCGGCACCCACCACCACGCCCGGCTAATTTTTTATTTCTAGTAGAGACAGGGTTTCACCTTGTTGGTCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCTCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCACCGCCGTTCATTTTCTGTGTGAGCACTTGTTGTATATATACTAGGCTCAGTTTTCAGAGGGGAGAGGCAAGTGCCTTCTGTATATCCCTCCCCAGCACGTGGCTTCCTGCCAGCATCTCTTTTGCTATCCCATCTTTTCTCTTTCTGGCCACAGCAGCCTCTTCATTGTGTGGTTCCCAGGGCCCAGCCAAGCACTTGCTAGACCA 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AAATTAGCCAGGTGTGGTGGTGGGTGCCTGTAGTGCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCATCCTGGGGGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAACTTCCTGGTGTTGGAGGTATTGGTATAATCATTGTAATAGGAATAAAAATTCTGTTCACTACAAAGGCAATAAACGAAGATTTATATCCAGCTTCCCTCCTTTACACCTTTTTTTTTTTTTGGAGACGGAATTTCTGTCTTGTTGCCCAAGCTGGAATGCAATGGCACAATCTTGGCTCACCACAGCCTCCACGTCCTGGGCTCAAGCGATTCACCTCTCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCCAGCTAATTTTGTGTTTTTAGTAGAGACACGGTTTGGTTTCTCCACGTTGGTCAGACTAGTCTCCAACTCCTGACCTCAGGTGATCCACCCACCCTGGCCTTCCAAAGTGCTGGGATTACAGGGGTGAGCCACTGTGCCCAGCACCTTTTTTATTTTTTATTTTTTTTTATTTTTTGAGATAGAGTCTCGCCCTGTCGCCCAGGCTGGAGTGCAGTGGTCCCATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCTAGTAGCTGAGACTACAGGCGCGTGCCCCCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTAACTATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTTGTGATCCGACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCGCCGCGCCCGGCAAAAAAAAAAAAAAAAAAAAAACTTTTCAAGAACAAAGTTGATTGAGGTAGGAAGAAACTAAGGAGACACTGTTCAACAGTATTCTAGGCAGGACCTCGCCTAGAATAGCTGAGATTTCTATTTTCTATGTGAGTTCCCCCAGATGACTGTTTCAAACTCTGTCGCGGGTGTGTGCCAATCCTCTTCCCATACCAACACTGTTACTATCTCTTGGTTTCATCTGCCTAAGCAGGGTTTTGGATGGCAGGAGGATGGGGGTGGGGGAAGCAAGGGAAGAACTGGAAGGAAGTGTGACTTTGCGCTATATGTGAGAATTCGCCTTTTTAGGGAAGACCCCTCAAAATCAAGAGACTTATCTGTCAGCCTCCAGATTAATAGCAGGCGAATTAGAAAGGGGGAGTCTTGAGGCTGGGGAGGAAGGAGTGAACTGATTAGGGGTGTATGCAAATTTAGGATCCCGCTTCAGCTCCCAGGAGGAGGGGCTGTCTGCAGCCTTTTCTCCAAAGGATCTCAGATTTATTTATTTTTTTGCTGTTTGTTTTTTTTTTTTTTTTTTTGGTGGGTATTGGTGCTGGAGAAGAGAGGTCCGGTGGGGAAAGAATCCCGGCCCTGGAGATTATATATCCGCCTTCGCATCAGCGGAGCAGGGACGCTGGGAGCGCGCGCGGCCCGCCGGCTAGTCAGTCCCCTGACCCGGAACCGCACTGGTGCCGCCGCTAGCCGGCTGCCCACGTGCCTGCAACAGTGGCCACGTGGGGCCCTGAGGAAACGCCTTTACAAAGGTTTGTCCCCTGCGCTGCCCAGTAGGGAGGAAAACCGGAGGAGAGCGCAGGAGGAAACAGTACCGGCTGGAGGCCGGTCTTGCAGGAGCGGGGGACTGCTGGGGGCGGGGCTTGGTGGTGACCGCTGGCGGGGCGGGGCCTGGGGCTCAGAGGGGTGGGCTTTGGAGATCAGAGGGTCGACGCTGCTTCGTTGCCTGGACTCTGGTTTCCGCCCTGGAGCAAGCCGGGGCCTGGTCGGCAGCTGGGCCGCCATGGAGTCCACGCTGGGCGCGGGCATCGTGATAGCCGAGGCGCTACAGAACCAGCTAGCCTGGCTGGAGAACGTGTGGCTCTGGATCACCTTTCTGGGCGATCCCAAGATCCTCTTTCTGTTCTACTTCTCCGCGGCCTACTACGCCTCCCGCCGTGTGGGCATCGCGGTGCTCTGGATCAGCCTCATCACCGAGTGGCTCAACCTCATCTTCAAGTGGTGAGACAGAGAAGCCCTCCGGCATCCTGGTCCCCACCCCCGAGGGCCCTGAGTCATGTGTAAGCCCTGGTCTCTTTCAGCAACTGTCTCAAGGGCCTTCCCACCCCTACTCTGTAGTCCCTGATTTTTTTTCCCCTTGAGCATCTTTGTGCAGCTTGGACTCAAACCTCAGAGTCCAACCATCCTACTCATTAGACCAGTGTTCTTCAAACTGGTCTGATGGAAAAATCACCTAAGGGGCGTGTCTAAAATGTAAATATCCCATCCTCATCTCACACTTACTAATTTAGAAACTCCAAGGGGTTGGGAATTTATTTTTTATTTTTTATTTTTGGTTTATGGGAATTCATATTTTAACAAATATGGTGATTTAAGTAGTGGAGAGTCCTACCTCTCAACTCACTTTTTCATTCATGTATTCATTCATTTGCTATAATTTTTCAGAAGCATGCTTTGTGCTGGGCATCACGGTAGCTGCTAAGGACAGAGACACCTTGCAGATTAAGGTGTGGTCCCTGGACCATGCCCAACGGCATAGGCAGCACTTGAAAACTGGCTAAAAACGCAGACTCTCAGGCCCCGGGCCAGAGCTACTGAATCAAAATCTGCATTTTAACAAGGTTCCCAGGTGATTCCCTGTGCGTATGCAGTAAAGTTTGGGCTAAAGCACTGCTTTCCAGGGAACACTTTCTCTTCTTTCTCTTTCATTCACCAGTAGACTCTTCACACTGAGACTTAGAAGCCAGGAATCCCAGGGACATGGGTGGAGGCCCTGTGGCCCCTGGGGCTGGGCATGCAGCCACACCTCCCTTCACCTCAGCCTCTGTTGCCAGATCCTCAGCCTGGGGGAAGGAAGGGAGGCTCATAGGAGGTATTTCAATGAGCTGGAATGACTTGCTGAAAAACAACATAGAGTTCCCCTCCCTTCCACTCTTTTCCACGAGGGCCTCATCCTTATGTAAAGGGAACCACAGTGATCTGTTCACTTCTTTCTTGCCTAATTGCCCTTTGCTTTGTGCTCTCCTCTCTCAAAGTCTGTATAAGCCTCCCCCTCTATTCCTTGTCCCCCAAAGATCACAATCTCCTTCAGACACTATTAATGTCCCCCAAGTGGCAAAGTCCCTATTCATTTTCATTTTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCAGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAAACTCCGTCTCCCGGCTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATCACAGGCGTGTGCCACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTCGCCTTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCGCTTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCAACCTGGCATTCTTTTTTTTTTTTTTTTTATTCTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGCGTGCAATGGCATGATCTTGGCTCACTGAAACCTCTTTGTCTCTCAGGTTCAAGAGATTCTTCTGCCTCAGCCTCCCCAGTAGCTGTGATTATCGGCACCCACCACCACGCCCGGCTAATTTTTTATTTCTAGTAGAGACAGGGTTTCACCTTGTTGGTCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCTCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCACCGCCGTTCATTTTCTGTGTGAGCACTTGTTGTATATATACTAGGCTCAGTTTTCAGAGGGGAGAGGCAAGTGCCTTCTGTATATCCCTCCCCAGCACGTGGCTTCCTGCCAGCATCTCTTTTGCTATCCCATCTTTTCTCTTTCTGGCCACAGCAGCCTCTTCATTGTGTGGTTCCCAGGGCCCAGCCAAGCACTTGCTAGACCA 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Task1_train_24654 | This is a variant in G6PC3 (glucose-6-phosphatase catalytic subunit 3), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | TTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGCGTGCAATGGCATGATCTTGGCTCACTGAAACCTCTTTGTCTCTCAGGTTCAAGAGATTCTTCTGCCTCAGCCTCCCCAGTAGCTGTGATTATCGGCACCCACCACCACGCCCGGCTAATTTTTTATTTCTAGTAGAGACAGGGTTTCACCTTGTTGGTCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCTCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCACCGCCGTTCATTTTCTGTGTGAGCACTTGTTGTATATATACTAGGCTCAGTTTTCAGAGGGGAGAGGCAAGTGCCTTCTGTATATCCCTCCCCAGCACGTGGCTTCCTGCCAGCATCTCTTTTGCTATCCCATCTTTTCTCTTTCTGGCCACAGCAGCCTCTTCATTGTGTGGTTCCCAGGGCCCAGCCAAGCACTTGCTAGACCAGAGGATTTTGACATTTTTTTGTCCTCCTTATTCTTTCTCAGCCTTCTCTGTCCATTTCCCACCCCCATTTTCAGACCTGAGAGGCTCACCTAAATAATTTAGGTGTGGATAATTCAGGCTGTAACTGGGGACATGGAGGCAGGGGTAGCAGGAGGGTTAGTGAGGGCCTGGAGGAGAGAGCTGGGTCCTGGACTCTCTGTGGATGATAAGAGCTGGCCTTGCAGTGAGAGGGGGTAGAGTGGGACGGCTGAGTATCTCAGAGCACACACACGGCTTACCACAATCTCTTGCCTCTGTATCAGTTTTATTTTTTATTTTATTCACTTTTTCTTTTTTTGAGACAGGATCTCACTCCATCACCAGGCTGGAGTACAATGGCACAATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGTGATCCTTCCCACTTCAGCCTCTGGAGTAGCAGGGACTACAGGCACACCCCAAGATGCCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGTCATGTTGCCCAGGCTATTCTCGAACTCCTGGGCTCAAGTGATCTGCCCGCCCAGCCTCCCAAGTAGCTGAGACTATAGGTGTGCACCACCACTTCCAGCTAATTTTTTGTTTTTGTTGAATCTGGGTCTTGCTATGTTGCCCAGGCTGGTCATGAACTCCTGGCTTCAAGTGATCCTCCAGCTAAGGCCTCCCAAAGTACTGGGATTACAGTCATGAGCCACTGTACCTGGCCCCAGACTAGTTTTTAAAAATAGTGTTTCCACAGGCTGAGGGTTAGGAAAAAAAAAAGAAAAGAAATAGTGTGCTTTCTTTCTCCTGTTCTAAGGTAGAAAACCATGGCAAGGTATCCATGGATACCTTGAGAGCAGTGGACAGAATCGTAGTCCCTTTTTGACTTCACCCCTCAGGCCCTCCAGAGTACTCTGTGTCCTGCCCGCCTTGTACCCCCCCTGGCTGTGTGTGCATGTGGAAAGTCATCTTGCATCTGTTCTCTTCCAGGTTTCTTTTTGGAGACAGGCCCTTTTGGTGGGTCCATGAGTCTGGTTACTACAGCCAGGCTCCAGCCCAGGTTCACCAGTTCCCCTCTTCTTGTGAGACTGGTCCAGGTGGGAAGCCTCAAACATTCTCCCTTTCCCAATGTGGTTAGGGTTCGGGTGAACATTTCAGAGTACTTTTCAGCCTGGGTGGCCCAACCAAAGGACCAGCCTCTCAATTACTGGCGCAGAGAACAAAAGAACCCCAGGGAGACCAAGCTGAGTTATGGGAGGAGGGCACTCATGCTATGTACCAGCTGCCCACCTTGTATAGAGGACAGCCAAGAGACACAGATCAGGACAGAAACCTGAGCACAGTGACCTCAAGTGGCAGTAAAAAGGCCTCAGAGCAGAGCGAGTTATGAATCAGTGCTGGGGAAAAGCTCTTCTCAGCCAGGAAAGGCAGCTGTATTATTGAGGCATCACCAGGGGCCCCGGGGTTCTGCCTCCATCTTCTCACCACGAGCTTCTGGATTTGCTGGCAGGCAGCCCTTCTGGACACTGCATGATCACAGGAGCAGCCCTCTGGCCCATAATGACGGCCCTGTCTTCGCAGGTGGCCACTCGGGCCCGCAGGTATACCCTTGGCATTGCCCACCATTGGGAGCAGGGGTGATGGCACCCTGTACCTAATAGACACAGCAGCATGGCAGCCTGGGAGCTGGAGTTTTGGGGACCCTAGGTTGTGTGGTTCAACCATGGAGTACCTGGGTGCTGCAGGAGGCCAAGCTGTGTATGGACACGCTCTGAGCTCCTTGCCTCTCTTCTTTCTAGCCGCTGGGTAAGGGTGATGCCTAGCCTGGCTTATTGCACCTTCCTTTTGGCGGTTGGCTTGTCGCGAATCTTCATCTTAGCACATTTCCCTCACCAGGTGCTGGCTGGCCTAATAACTGGTGAGCAACTGGGGCAACGGGGTGGACTGAGAGGATGCCTTTGGCAGTGGGAGGATCAGTCTAGGATCTTCCCATCGCTCCCAGCTTCTGTAGAGCCCACCCCAGAGGCCCCCCGTTATGTCTCAGTTTATTCTCTTGCCAAGCTGCACTGCAGCTGGGGGTCGGGGTGGGGAGGGTCATATCCCCAGACTCCTTGAAGCTGTTGTCACTCCACTCTCCTAGGCGCTGTCCTGGGCTGGCTGATGACTCCCCGAGTGCCTATGGAGCGGGAGCTAAGCTTCTATGGGTTGACTGCACTGGCCCTCATGCTAGGCACCAGCCTCATCTATTGGACCCTCTTTACACTGGGCCTGGATCTTTCTTGGTAAGTCTCGCTTTGAAGCCTGGGCAGGCTGGGCCCTGTCCTATCTCGCCTGCACCTAGCCTGGTGTGTCTCTGGTTCATTATAGCTAAAAAAGGACACATTACCTATTCACATAGACCCTCACAGGCACAAAACAGAACATGGGAGTGGGCCCCAAGGGCAGATGGCCAAGAGCCAGTGGCCTTCTATGTTCCAGCCTCTCCTGGCAAGAACTCTTCTTCCCCACAGGTCCATCAGCCTAGCCTTCAAGTGGTGTGAGCGGCCTGAGTGGATACACGTGGATAGCCGGCCCTTTGCCTCCCTGAGCCGTGACTCAGGGGCTGCCCTGGGCCTGGGCATTGCCTTGCACTCTCCCTGCTATGCCCAGGTGCGTCGGGCACAGCTGGGAAATGGCCAGAAGATAGCCTGCCTTGTGCTGGCCATGGGGCTGCTGGGCCCCCTGGACTGGCTGGGCCACCCCCCTCAGATCAGCCTCTTCTACATTTTCAATTTCCTCAAGTACACCCTCTGGCCATGCCTAGTCCTGGCCCTCGTGCCCTGGGCAGTGCACATGTTCAGTGCCCAGGAAGCACCGCCCATCCACTCTTCCTGACTTCTTGTGTGCCTCCCTTTCCTTTCCCTCCCACAAAGCCAACACTCTGTGACCACCACACTCCAGGAGGCAGCCCCATCCCCTTCCAGCCCCTAAGTAGGCCCTCCCCTCCCTAAATCTGCTTCCGCACCACCTGGTCTTAGCCCCAAAGATGGGCCTTCTCTCTCCCAGATAAGTTGGTCCTCCCTCTGCCTTTCCTCTCAAGCCCCCAAAGAGCAAAGGCAACAGCAAGACCAGCGGGTTCTTGCAACACTGTGAGGGGCAGCCAGGGCGGCCCCAATAAAGCCCTTGAATACTTTGAGATTCCTTTCTTGCCTATGCGCACATCTCCATGGGCCTTGCCTGTGTGTGCACAAGTGGAACCTTTGCCAGGCTGCTCCAGTAGTCTCTGTGCCATCTCCAGCCCTGTTTCCAGGGGCAGAGAGGCAGGAAAGGAGAGGGCTGTAAACTCAGGTGAGACCTCTCAGCCCTGGGTCCCCTGCCTCATCACTGCCTAGGCCACATGAGAGGTCCCATGAGATGCTGTGACTATATTCGGTATAACCCTGTCTTTTCACTTACAGGACAGATCTTGCGCCCCAACCTCCAGTTTCCTAAATCGGCTTCTAGTCCAGGGGCTGGAGAAAAGAGTAGTGTGTTTGGCTAGGAAGGAGGATGAGAACCTCTACTCCATTTGGGAGCCCAGAGAATAGAGACATTGGCCC 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TTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGCGTGCAATGGCATGATCTTGGCTCACTGAAACCTCTTTGTCTCTCAGGTTCAAGAGATTCTTCTGCCTCAGCCTCCCCAGTAGCTGTGATTATCGGCACCCACCACCACGCCCGGCTAATTTTTTATTTCTAGTAGAGACAGGGTTTCACCTTGTTGGTCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCTCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCACCGCCGTTCATTTTCTGTGTGAGCACTTGTTGTATATATACTAGGCTCAGTTTTCAGAGGGGAGAGGCAAGTGCCTTCTGTATATCCCTCCCCAGCACGTGGCTTCCTGCCAGCATCTCTTTTGCTATCCCATCTTTTCTCTTTCTGGCCACAGCAGCCTCTTCATTGTGTGGTTCCCAGGGCCCAGCCAAGCACTTGCTAGACCAGAGGATTTTGACATTTTTTTGTCCTCCTTATTCTTTCTCAGCCTTCTCTGTCCATTTCCCACCCCCATTTTCAGACCTGAGAGGCTCACCTAAATAATTTAGGTGTGGATAATTCAGGCTGTAACTGGGGACATGGAGGCAGGGGTAGCAGGAGGGTTAGTGAGGGCCTGGAGGAGAGAGCTGGGTCCTGGACTCTCTGTGGATGATAAGAGCTGGCCTTGCAGTGAGAGGGGGTAGAGTGGGACGGCTGAGTATCTCAGAGCACACACACGGCTTACCACAATCTCTTGCCTCTGTATCAGTTTTATTTTTTATTTTATTCACTTTTTCTTTTTTTGAGACAGGATCTCACTCCATCACCAGGCTGGAGTACAATGGCACAATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGTGATCCTTCCCACTTCAGCCTCTGGAGTAGCAGGGACTACAGGCACACCCCAAGATGCCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGTCATGTTGCCCAGGCTATTCTCGAACTCCTGGGCTCAAGTGATCTGCCCGCCCAGCCTCCCAAGTAGCTGAGACTATAGGTGTGCACCACCACTTCCAGCTAATTTTTTGTTTTTGTTGAATCTGGGTCTTGCTATGTTGCCCAGGCTGGTCATGAACTCCTGGCTTCAAGTGATCCTCCAGCTAAGGCCTCCCAAAGTACTGGGATTACAGTCATGAGCCACTGTACCTGGCCCCAGACTAGTTTTTAAAAATAGTGTTTCCACAGGCTGAGGGTTAGGAAAAAAAAAAGAAAAGAAATAGTGTGCTTTCTTTCTCCTGTTCTAAGGTAGAAAACCATGGCAAGGTATCCATGGATACCTTGAGAGCAGTGGACAGAATCGTAGTCCCTTTTTGACTTCACCCCTCAGGCCCTCCAGAGTACTCTGTGTCCTGCCCGCCTTGTACCCCCCCTGGCTGTGTGTGCATGTGGAAAGTCATCTTGCATCTGTTCTCTTCCAGGTTTCTTTTTGGAGACAGGCCCTTTTGGTGGGTCCATGAGTCTGGTTACTACAGCCAGGCTCCAGCCCAGGTTCACCAGTTCCCCTCTTCTTGTGAGACTGGTCCAGGTGGGAAGCCTCAAACATTCTCCCTTTCCCAATGTGGTTAGGGTTCGGGTGAACATTTCAGAGTACTTTTCAGCCTGGGTGGCCCAACCAAAGGACCAGCCTCTCAATTACTGGCGCAGAGAACAAAAGAACCCCAGGGAGACCAAGCTGAGTTATGGGAGGAGGGCACTCATGCTATGTACCAGCTGCCCACCTTGTATAGAGGACAGCCAAGAGACACAGATCAGGACAGAAACCTGAGCACAGTGACCTCAAGTGGCAGTAAAAAGGCCTCAGAGCAGAGCGAGTTATGAATCAGTGCTGGGGAAAAGCTCTTCTCAGCCAGGAAAGGCAGCTGTATTATTGAGGCATCACCAGGGGCCCCGGGGTTCTGCCTCCATCTTCTCACCACGAGCTTCTGGATTTGCTGGCAGGCAGCCCTTCTGGACACTGCGTGATCACAGGAGCAGCCCTCTGGCCCATAATGACGGCCCTGTCTTCGCAGGTGGCCACTCGGGCCCGCAGGTATACCCTTGGCATTGCCCACCATTGGGAGCAGGGGTGATGGCACCCTGTACCTAATAGACACAGCAGCATGGCAGCCTGGGAGCTGGAGTTTTGGGGACCCTAGGTTGTGTGGTTCAACCATGGAGTACCTGGGTGCTGCAGGAGGCCAAGCTGTGTATGGACACGCTCTGAGCTCCTTGCCTCTCTTCTTTCTAGCCGCTGGGTAAGGGTGATGCCTAGCCTGGCTTATTGCACCTTCCTTTTGGCGGTTGGCTTGTCGCGAATCTTCATCTTAGCACATTTCCCTCACCAGGTGCTGGCTGGCCTAATAACTGGTGAGCAACTGGGGCAACGGGGTGGACTGAGAGGATGCCTTTGGCAGTGGGAGGATCAGTCTAGGATCTTCCCATCGCTCCCAGCTTCTGTAGAGCCCACCCCAGAGGCCCCCCGTTATGTCTCAGTTTATTCTCTTGCCAAGCTGCACTGCAGCTGGGGGTCGGGGTGGGGAGGGTCATATCCCCAGACTCCTTGAAGCTGTTGTCACTCCACTCTCCTAGGCGCTGTCCTGGGCTGGCTGATGACTCCCCGAGTGCCTATGGAGCGGGAGCTAAGCTTCTATGGGTTGACTGCACTGGCCCTCATGCTAGGCACCAGCCTCATCTATTGGACCCTCTTTACACTGGGCCTGGATCTTTCTTGGTAAGTCTCGCTTTGAAGCCTGGGCAGGCTGGGCCCTGTCCTATCTCGCCTGCACCTAGCCTGGTGTGTCTCTGGTTCATTATAGCTAAAAAAGGACACATTACCTATTCACATAGACCCTCACAGGCACAAAACAGAACATGGGAGTGGGCCCCAAGGGCAGATGGCCAAGAGCCAGTGGCCTTCTATGTTCCAGCCTCTCCTGGCAAGAACTCTTCTTCCCCACAGGTCCATCAGCCTAGCCTTCAAGTGGTGTGAGCGGCCTGAGTGGATACACGTGGATAGCCGGCCCTTTGCCTCCCTGAGCCGTGACTCAGGGGCTGCCCTGGGCCTGGGCATTGCCTTGCACTCTCCCTGCTATGCCCAGGTGCGTCGGGCACAGCTGGGAAATGGCCAGAAGATAGCCTGCCTTGTGCTGGCCATGGGGCTGCTGGGCCCCCTGGACTGGCTGGGCCACCCCCCTCAGATCAGCCTCTTCTACATTTTCAATTTCCTCAAGTACACCCTCTGGCCATGCCTAGTCCTGGCCCTCGTGCCCTGGGCAGTGCACATGTTCAGTGCCCAGGAAGCACCGCCCATCCACTCTTCCTGACTTCTTGTGTGCCTCCCTTTCCTTTCCCTCCCACAAAGCCAACACTCTGTGACCACCACACTCCAGGAGGCAGCCCCATCCCCTTCCAGCCCCTAAGTAGGCCCTCCCCTCCCTAAATCTGCTTCCGCACCACCTGGTCTTAGCCCCAAAGATGGGCCTTCTCTCTCCCAGATAAGTTGGTCCTCCCTCTGCCTTTCCTCTCAAGCCCCCAAAGAGCAAAGGCAACAGCAAGACCAGCGGGTTCTTGCAACACTGTGAGGGGCAGCCAGGGCGGCCCCAATAAAGCCCTTGAATACTTTGAGATTCCTTTCTTGCCTATGCGCACATCTCCATGGGCCTTGCCTGTGTGTGCACAAGTGGAACCTTTGCCAGGCTGCTCCAGTAGTCTCTGTGCCATCTCCAGCCCTGTTTCCAGGGGCAGAGAGGCAGGAAAGGAGAGGGCTGTAAACTCAGGTGAGACCTCTCAGCCCTGGGTCCCCTGCCTCATCACTGCCTAGGCCACATGAGAGGTCCCATGAGATGCTGTGACTATATTCGGTATAACCCTGTCTTTTCACTTACAGGACAGATCTTGCGCCCCAACCTCCAGTTTCCTAAATCGGCTTCTAGTCCAGGGGCTGGAGAAAAGAGTAGTGTGTTTGGCTAGGAAGGAGGATGAGAACCTCTACTCCATTTGGGAGCCCAGAGAATAGAGACATTGGCCC 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Task1_train_24655 | Given a variant located on Chromosome 17 and affecting G6PC3 (glucose-6-phosphatase catalytic subunit 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | GGCAGGGGTAGCAGGAGGGTTAGTGAGGGCCTGGAGGAGAGAGCTGGGTCCTGGACTCTCTGTGGATGATAAGAGCTGGCCTTGCAGTGAGAGGGGGTAGAGTGGGACGGCTGAGTATCTCAGAGCACACACACGGCTTACCACAATCTCTTGCCTCTGTATCAGTTTTATTTTTTATTTTATTCACTTTTTCTTTTTTTGAGACAGGATCTCACTCCATCACCAGGCTGGAGTACAATGGCACAATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGTGATCCTTCCCACTTCAGCCTCTGGAGTAGCAGGGACTACAGGCACACCCCAAGATGCCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGTCATGTTGCCCAGGCTATTCTCGAACTCCTGGGCTCAAGTGATCTGCCCGCCCAGCCTCCCAAGTAGCTGAGACTATAGGTGTGCACCACCACTTCCAGCTAATTTTTTGTTTTTGTTGAATCTGGGTCTTGCTATGTTGCCCAGGCTGGTCATGAACTCCTGGCTTCAAGTGATCCTCCAGCTAAGGCCTCCCAAAGTACTGGGATTACAGTCATGAGCCACTGTACCTGGCCCCAGACTAGTTTTTAAAAATAGTGTTTCCACAGGCTGAGGGTTAGGAAAAAAAAAAGAAAAGAAATAGTGTGCTTTCTTTCTCCTGTTCTAAGGTAGAAAACCATGGCAAGGTATCCATGGATACCTTGAGAGCAGTGGACAGAATCGTAGTCCCTTTTTGACTTCACCCCTCAGGCCCTCCAGAGTACTCTGTGTCCTGCCCGCCTTGTACCCCCCCTGGCTGTGTGTGCATGTGGAAAGTCATCTTGCATCTGTTCTCTTCCAGGTTTCTTTTTGGAGACAGGCCCTTTTGGTGGGTCCATGAGTCTGGTTACTACAGCCAGGCTCCAGCCCAGGTTCACCAGTTCCCCTCTTCTTGTGAGACTGGTCCAGGTGGGAAGCCTCAAACATTCTCCCTTTCCCAATGTGGTTAGGGTTCGGGTGAACATTTCAGAGTACTTTTCAGCCTGGGTGGCCCAACCAAAGGACCAGCCTCTCAATTACTGGCGCAGAGAACAAAAGAACCCCAGGGAGACCAAGCTGAGTTATGGGAGGAGGGCACTCATGCTATGTACCAGCTGCCCACCTTGTATAGAGGACAGCCAAGAGACACAGATCAGGACAGAAACCTGAGCACAGTGACCTCAAGTGGCAGTAAAAAGGCCTCAGAGCAGAGCGAGTTATGAATCAGTGCTGGGGAAAAGCTCTTCTCAGCCAGGAAAGGCAGCTGTATTATTGAGGCATCACCAGGGGCCCCGGGGTTCTGCCTCCATCTTCTCACCACGAGCTTCTGGATTTGCTGGCAGGCAGCCCTTCTGGACACTGCATGATCACAGGAGCAGCCCTCTGGCCCATAATGACGGCCCTGTCTTCGCAGGTGGCCACTCGGGCCCGCAGGTATACCCTTGGCATTGCCCACCATTGGGAGCAGGGGTGATGGCACCCTGTACCTAATAGACACAGCAGCATGGCAGCCTGGGAGCTGGAGTTTTGGGGACCCTAGGTTGTGTGGTTCAACCATGGAGTACCTGGGTGCTGCAGGAGGCCAAGCTGTGTATGGACACGCTCTGAGCTCCTTGCCTCTCTTCTTTCTAGCCGCTGGGTAAGGGTGATGCCTAGCCTGGCTTATTGCACCTTCCTTTTGGCGGTTGGCTTGTCGCGAATCTTCATCTTAGCACATTTCCCTCACCAGGTGCTGGCTGGCCTAATAACTGGTGAGCAACTGGGGCAACGGGGTGGACTGAGAGGATGCCTTTGGCAGTGGGAGGATCAGTCTAGGATCTTCCCATCGCTCCCAGCTTCTGTAGAGCCCACCCCAGAGGCCCCCCGTTATGTCTCAGTTTATTCTCTTGCCAAGCTGCACTGCAGCTGGGGGTCGGGGTGGGGAGGGTCATATCCCCAGACTCCTTGAAGCTGTTGTCACTCCACTCTCCTAGGCGCTGTCCTGGGCTGGCTGATGACTCCCCGAGTGCCTATGGAGCGGGAGCTAAGCTTCTATGGGTTGACTGCACTGGCCCTCATGCTAGGCACCAGCCTCATCTATTGGACCCTCTTTACACTGGGCCTGGATCTTTCTTGGTAAGTCTCGCTTTGAAGCCTGGGCAGGCTGGGCCCTGTCCTATCTCGCCTGCACCTAGCCTGGTGTGTCTCTGGTTCATTATAGCTAAAAAAGGACACATTACCTATTCACATAGACCCTCACAGGCACAAAACAGAACATGGGAGTGGGCCCCAAGGGCAGATGGCCAAGAGCCAGTGGCCTTCTATGTTCCAGCCTCTCCTGGCAAGAACTCTTCTTCCCCACAGGTCCATCAGCCTAGCCTTCAAGTGGTGTGAGCGGCCTGAGTGGATACACGTGGATAGCCGGCCCTTTGCCTCCCTGAGCCGTGACTCAGGGGCTGCCCTGGGCCTGGGCATTGCCTTGCACTCTCCCTGCTATGCCCAGGTGCGTCGGGCACAGCTGGGAAATGGCCAGAAGATAGCCTGCCTTGTGCTGGCCATGGGGCTGCTGGGCCCCCTGGACTGGCTGGGCCACCCCCCTCAGATCAGCCTCTTCTACATTTTCAATTTCCTCAAGTACACCCTCTGGCCATGCCTAGTCCTGGCCCTCGTGCCCTGGGCAGTGCACATGTTCAGTGCCCAGGAAGCACCGCCCATCCACTCTTCCTGACTTCTTGTGTGCCTCCCTTTCCTTTCCCTCCCACAAAGCCAACACTCTGTGACCACCACACTCCAGGAGGCAGCCCCATCCCCTTCCAGCCCCTAAGTAGGCCCTCCCCTCCCTAAATCTGCTTCCGCACCACCTGGTCTTAGCCCCAAAGATGGGCCTTCTCTCTCCCAGATAAGTTGGTCCTCCCTCTGCCTTTCCTCTCAAGCCCCCAAAGAGCAAAGGCAACAGCAAGACCAGCGGGTTCTTGCAACACTGTGAGGGGCAGCCAGGGCGGCCCCAATAAAGCCCTTGAATACTTTGAGATTCCTTTCTTGCCTATGCGCACATCTCCATGGGCCTTGCCTGTGTGTGCACAAGTGGAACCTTTGCCAGGCTGCTCCAGTAGTCTCTGTGCCATCTCCAGCCCTGTTTCCAGGGGCAGAGAGGCAGGAAAGGAGAGGGCTGTAAACTCAGGTGAGACCTCTCAGCCCTGGGTCCCCTGCCTCATCACTGCCTAGGCCACATGAGAGGTCCCATGAGATGCTGTGACTATATTCGGTATAACCCTGTCTTTTCACTTACAGGACAGATCTTGCGCCCCAACCTCCAGTTTCCTAAATCGGCTTCTAGTCCAGGGGCTGGAGAAAAGAGTAGTGTGTTTGGCTAGGAAGGAGGATGAGAACCTCTACTCCATTTGGGAGCCCAGAGAATAGAGACATTGGCCCCAGAAGGCACTGCCAGAAACAAGTTTATTTACACAAGGACACACAGTGTAACGGGTTACAAAATACTTAACTGAAATCCATATCCAGGGAGACAAAGCAAGGAGTGGGTTTACATGAGAACCAGACCAGCCACAGGGAGAGAGTGGGTAAGGGGCCGGGAGCCTGGGGCTCAGCACAGAGAGGCCTAGTACACTGAGCCTGGCCCCATCCCCATCCCCCAGGAGGATCTAAAACAAACACACAAGCACACTATGAACCGATGGTGCTGGGACTCCTGCCCCTCCCCTGGCTCCCTCAATCCTGCTCAGGCCCCCATAGGATAATAAATATGTAAACAGATTGGTGGGGCCCTGGAGATAGAAGGAGAGAAAGTATATGTGGTACTGGGGAGGAGGAGGAAGGAAGAGTCAGCCCCCTAGGAGCCACTTCCCATCTTTGGTTTCCTACAGGCTGGATGGCATCCCCTGGAAGCCTTGTAGGCCCACAGCCCCTGGCAGGGCTCCTGGGAAAGAGAAGGGACAGCGCCCAGCCCCCTCCTGGTCTTAGCTCCCTTGGGCTGGTGGTCAGCAAAGGGAGCCCAGAAGGTATGGAAGCTCCAGCTGAGAGCCGACTCCTGGATCCCTGGGTT 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GGCAGGGGTAGCAGGAGGGTTAGTGAGGGCCTGGAGGAGAGAGCTGGGTCCTGGACTCTCTGTGGATGATAAGAGCTGGCCTTGCAGTGAGAGGGGGTAGAGTGGGACGGCTGAGTATCTCAGAGCACACACACGGCTTACCACAATCTCTTGCCTCTGTATCAGTTTTATTTTTTATTTTATTCACTTTTTCTTTTTTTGAGACAGGATCTCACTCCATCACCAGGCTGGAGTACAATGGCACAATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGTGATCCTTCCCACTTCAGCCTCTGGAGTAGCAGGGACTACAGGCACACCCCAAGATGCCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGTCATGTTGCCCAGGCTATTCTCGAACTCCTGGGCTCAAGTGATCTGCCCGCCCAGCCTCCCAAGTAGCTGAGACTATAGGTGTGCACCACCACTTCCAGCTAATTTTTTGTTTTTGTTGAATCTGGGTCTTGCTATGTTGCCCAGGCTGGTCATGAACTCCTGGCTTCAAGTGATCCTCCAGCTAAGGCCTCCCAAAGTACTGGGATTACAGTCATGAGCCACTGTACCTGGCCCCAGACTAGTTTTTAAAAATAGTGTTTCCACAGGCTGAGGGTTAGGAAAAAAAAAAGAAAAGAAATAGTGTGCTTTCTTTCTCCTGTTCTAAGGTAGAAAACCATGGCAAGGTATCCATGGATACCTTGAGAGCAGTGGACAGAATCGTAGTCCCTTTTTGACTTCACCCCTCAGGCCCTCCAGAGTACTCTGTGTCCTGCCCGCCTTGTACCCCCCCTGGCTGTGTGTGCATGTGGAAAGTCATCTTGCATCTGTTCTCTTCCAGGTTTCTTTTTGGAGACAGGCCCTTTTGGTGGGTCCATGAGTCTGGTTACTACAGCCAGGCTCCAGCCCAGGTTCACCAGTTCCCCTCTTCTTGTGAGACTGGTCCAGGTGGGAAGCCTCAAACATTCTCCCTTTCCCAATGTGGTTAGGGTTCGGGTGAACATTTCAGAGTACTTTTCAGCCTGGGTGGCCCAACCAAAGGACCAGCCTCTCAATTACTGGCGCAGAGAACAAAAGAACCCCAGGGAGACCAAGCTGAGTTATGGGAGGAGGGCACTCATGCTATGTACCAGCTGCCCACCTTGTATAGAGGACAGCCAAGAGACACAGATCAGGACAGAAACCTGAGCACAGTGACCTCAAGTGGCAGTAAAAAGGCCTCAGAGCAGAGCGAGTTATGAATCAGTGCTGGGGAAAAGCTCTTCTCAGCCAGGAAAGGCAGCTGTATTATTGAGGCATCACCAGGGGCCCCGGGGTTCTGCCTCCATCTTCTCACCACGAGCTTCTGGATTTGCTGGCAGGCAGCCCTTCTGGACACTGCATGATCACAGGAGCAGCCCTCTGGCCCATAATGACGGCCCTGTCTTCGCAGGTGGCCACTCGGGCCCGCAGGTATACCCTTGGCATTGCCCACCATTGGGAGCAGGGGTGATGGCACCCTGTACCTAATAGACACAGCAGCATGGCAGCCTGGGAGCTGGAGTTTTGGGGACCCTAGGTTGTGTGGTTCAACCATGGAGTACCTGGGTGCTGCAGGAGGCCAAGCTGTGTATGGACACGCTCTGAGCTCCTTGCCTCTCTTCTTTCTAGCCGCTGGGTAAGGGTGATGCCTAGCCTGGCTTATTGCACCTTCCTTTTGGCGGTTGGCTTGTCGCGAATCTTCATCTTAGCACATTTCCCTCACCAGGTGCTGGCTGGCCTAATAACTGGTGAGCAACTGGGGCAACGGGGTGGACTGAGAGGATGCCTTTGGCAGTGGGAGGATCAGTCTAGGATCTTCCCATCGCTCCCAGCTTCTGTAGAGCCCACCCCAGAGGCCCCCCGTTATGTCTCAGTTTATTCTCTTGCCAAGCTGCACTGCAGCTGGGGGTCGGGGTGGGGAGGGTCATATCCCCAGACTCCTTGAAGCTGTTGTCACTCCACTCTCCTAGGCGCTGTCCTGGGCTGGCCGATGACTCCCCGAGTGCCTATGGAGCGGGAGCTAAGCTTCTATGGGTTGACTGCACTGGCCCTCATGCTAGGCACCAGCCTCATCTATTGGACCCTCTTTACACTGGGCCTGGATCTTTCTTGGTAAGTCTCGCTTTGAAGCCTGGGCAGGCTGGGCCCTGTCCTATCTCGCCTGCACCTAGCCTGGTGTGTCTCTGGTTCATTATAGCTAAAAAAGGACACATTACCTATTCACATAGACCCTCACAGGCACAAAACAGAACATGGGAGTGGGCCCCAAGGGCAGATGGCCAAGAGCCAGTGGCCTTCTATGTTCCAGCCTCTCCTGGCAAGAACTCTTCTTCCCCACAGGTCCATCAGCCTAGCCTTCAAGTGGTGTGAGCGGCCTGAGTGGATACACGTGGATAGCCGGCCCTTTGCCTCCCTGAGCCGTGACTCAGGGGCTGCCCTGGGCCTGGGCATTGCCTTGCACTCTCCCTGCTATGCCCAGGTGCGTCGGGCACAGCTGGGAAATGGCCAGAAGATAGCCTGCCTTGTGCTGGCCATGGGGCTGCTGGGCCCCCTGGACTGGCTGGGCCACCCCCCTCAGATCAGCCTCTTCTACATTTTCAATTTCCTCAAGTACACCCTCTGGCCATGCCTAGTCCTGGCCCTCGTGCCCTGGGCAGTGCACATGTTCAGTGCCCAGGAAGCACCGCCCATCCACTCTTCCTGACTTCTTGTGTGCCTCCCTTTCCTTTCCCTCCCACAAAGCCAACACTCTGTGACCACCACACTCCAGGAGGCAGCCCCATCCCCTTCCAGCCCCTAAGTAGGCCCTCCCCTCCCTAAATCTGCTTCCGCACCACCTGGTCTTAGCCCCAAAGATGGGCCTTCTCTCTCCCAGATAAGTTGGTCCTCCCTCTGCCTTTCCTCTCAAGCCCCCAAAGAGCAAAGGCAACAGCAAGACCAGCGGGTTCTTGCAACACTGTGAGGGGCAGCCAGGGCGGCCCCAATAAAGCCCTTGAATACTTTGAGATTCCTTTCTTGCCTATGCGCACATCTCCATGGGCCTTGCCTGTGTGTGCACAAGTGGAACCTTTGCCAGGCTGCTCCAGTAGTCTCTGTGCCATCTCCAGCCCTGTTTCCAGGGGCAGAGAGGCAGGAAAGGAGAGGGCTGTAAACTCAGGTGAGACCTCTCAGCCCTGGGTCCCCTGCCTCATCACTGCCTAGGCCACATGAGAGGTCCCATGAGATGCTGTGACTATATTCGGTATAACCCTGTCTTTTCACTTACAGGACAGATCTTGCGCCCCAACCTCCAGTTTCCTAAATCGGCTTCTAGTCCAGGGGCTGGAGAAAAGAGTAGTGTGTTTGGCTAGGAAGGAGGATGAGAACCTCTACTCCATTTGGGAGCCCAGAGAATAGAGACATTGGCCCCAGAAGGCACTGCCAGAAACAAGTTTATTTACACAAGGACACACAGTGTAACGGGTTACAAAATACTTAACTGAAATCCATATCCAGGGAGACAAAGCAAGGAGTGGGTTTACATGAGAACCAGACCAGCCACAGGGAGAGAGTGGGTAAGGGGCCGGGAGCCTGGGGCTCAGCACAGAGAGGCCTAGTACACTGAGCCTGGCCCCATCCCCATCCCCCAGGAGGATCTAAAACAAACACACAAGCACACTATGAACCGATGGTGCTGGGACTCCTGCCCCTCCCCTGGCTCCCTCAATCCTGCTCAGGCCCCCATAGGATAATAAATATGTAAACAGATTGGTGGGGCCCTGGAGATAGAAGGAGAGAAAGTATATGTGGTACTGGGGAGGAGGAGGAAGGAAGAGTCAGCCCCCTAGGAGCCACTTCCCATCTTTGGTTTCCTACAGGCTGGATGGCATCCCCTGGAAGCCTTGTAGGCCCACAGCCCCTGGCAGGGCTCCTGGGAAAGAGAAGGGACAGCGCCCAGCCCCCTCCTGGTCTTAGCTCCCTTGGGCTGGTGGTCAGCAAAGGGAGCCCAGAAGGTATGGAAGCTCCAGCTGAGAGCCGACTCCTGGATCCCTGGGTT 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Task1_train_24656 | A mutation found in G6PC3 (glucose-6-phosphatase catalytic subunit 3) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | CAGGAGGGTTAGTGAGGGCCTGGAGGAGAGAGCTGGGTCCTGGACTCTCTGTGGATGATAAGAGCTGGCCTTGCAGTGAGAGGGGGTAGAGTGGGACGGCTGAGTATCTCAGAGCACACACACGGCTTACCACAATCTCTTGCCTCTGTATCAGTTTTATTTTTTATTTTATTCACTTTTTCTTTTTTTGAGACAGGATCTCACTCCATCACCAGGCTGGAGTACAATGGCACAATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGTGATCCTTCCCACTTCAGCCTCTGGAGTAGCAGGGACTACAGGCACACCCCAAGATGCCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGTCATGTTGCCCAGGCTATTCTCGAACTCCTGGGCTCAAGTGATCTGCCCGCCCAGCCTCCCAAGTAGCTGAGACTATAGGTGTGCACCACCACTTCCAGCTAATTTTTTGTTTTTGTTGAATCTGGGTCTTGCTATGTTGCCCAGGCTGGTCATGAACTCCTGGCTTCAAGTGATCCTCCAGCTAAGGCCTCCCAAAGTACTGGGATTACAGTCATGAGCCACTGTACCTGGCCCCAGACTAGTTTTTAAAAATAGTGTTTCCACAGGCTGAGGGTTAGGAAAAAAAAAAGAAAAGAAATAGTGTGCTTTCTTTCTCCTGTTCTAAGGTAGAAAACCATGGCAAGGTATCCATGGATACCTTGAGAGCAGTGGACAGAATCGTAGTCCCTTTTTGACTTCACCCCTCAGGCCCTCCAGAGTACTCTGTGTCCTGCCCGCCTTGTACCCCCCCTGGCTGTGTGTGCATGTGGAAAGTCATCTTGCATCTGTTCTCTTCCAGGTTTCTTTTTGGAGACAGGCCCTTTTGGTGGGTCCATGAGTCTGGTTACTACAGCCAGGCTCCAGCCCAGGTTCACCAGTTCCCCTCTTCTTGTGAGACTGGTCCAGGTGGGAAGCCTCAAACATTCTCCCTTTCCCAATGTGGTTAGGGTTCGGGTGAACATTTCAGAGTACTTTTCAGCCTGGGTGGCCCAACCAAAGGACCAGCCTCTCAATTACTGGCGCAGAGAACAAAAGAACCCCAGGGAGACCAAGCTGAGTTATGGGAGGAGGGCACTCATGCTATGTACCAGCTGCCCACCTTGTATAGAGGACAGCCAAGAGACACAGATCAGGACAGAAACCTGAGCACAGTGACCTCAAGTGGCAGTAAAAAGGCCTCAGAGCAGAGCGAGTTATGAATCAGTGCTGGGGAAAAGCTCTTCTCAGCCAGGAAAGGCAGCTGTATTATTGAGGCATCACCAGGGGCCCCGGGGTTCTGCCTCCATCTTCTCACCACGAGCTTCTGGATTTGCTGGCAGGCAGCCCTTCTGGACACTGCATGATCACAGGAGCAGCCCTCTGGCCCATAATGACGGCCCTGTCTTCGCAGGTGGCCACTCGGGCCCGCAGGTATACCCTTGGCATTGCCCACCATTGGGAGCAGGGGTGATGGCACCCTGTACCTAATAGACACAGCAGCATGGCAGCCTGGGAGCTGGAGTTTTGGGGACCCTAGGTTGTGTGGTTCAACCATGGAGTACCTGGGTGCTGCAGGAGGCCAAGCTGTGTATGGACACGCTCTGAGCTCCTTGCCTCTCTTCTTTCTAGCCGCTGGGTAAGGGTGATGCCTAGCCTGGCTTATTGCACCTTCCTTTTGGCGGTTGGCTTGTCGCGAATCTTCATCTTAGCACATTTCCCTCACCAGGTGCTGGCTGGCCTAATAACTGGTGAGCAACTGGGGCAACGGGGTGGACTGAGAGGATGCCTTTGGCAGTGGGAGGATCAGTCTAGGATCTTCCCATCGCTCCCAGCTTCTGTAGAGCCCACCCCAGAGGCCCCCCGTTATGTCTCAGTTTATTCTCTTGCCAAGCTGCACTGCAGCTGGGGGTCGGGGTGGGGAGGGTCATATCCCCAGACTCCTTGAAGCTGTTGTCACTCCACTCTCCTAGGCGCTGTCCTGGGCTGGCTGATGACTCCCCGAGTGCCTATGGAGCGGGAGCTAAGCTTCTATGGGTTGACTGCACTGGCCCTCATGCTAGGCACCAGCCTCATCTATTGGACCCTCTTTACACTGGGCCTGGATCTTTCTTGGTAAGTCTCGCTTTGAAGCCTGGGCAGGCTGGGCCCTGTCCTATCTCGCCTGCACCTAGCCTGGTGTGTCTCTGGTTCATTATAGCTAAAAAAGGACACATTACCTATTCACATAGACCCTCACAGGCACAAAACAGAACATGGGAGTGGGCCCCAAGGGCAGATGGCCAAGAGCCAGTGGCCTTCTATGTTCCAGCCTCTCCTGGCAAGAACTCTTCTTCCCCACAGGTCCATCAGCCTAGCCTTCAAGTGGTGTGAGCGGCCTGAGTGGATACACGTGGATAGCCGGCCCTTTGCCTCCCTGAGCCGTGACTCAGGGGCTGCCCTGGGCCTGGGCATTGCCTTGCACTCTCCCTGCTATGCCCAGGTGCGTCGGGCACAGCTGGGAAATGGCCAGAAGATAGCCTGCCTTGTGCTGGCCATGGGGCTGCTGGGCCCCCTGGACTGGCTGGGCCACCCCCCTCAGATCAGCCTCTTCTACATTTTCAATTTCCTCAAGTACACCCTCTGGCCATGCCTAGTCCTGGCCCTCGTGCCCTGGGCAGTGCACATGTTCAGTGCCCAGGAAGCACCGCCCATCCACTCTTCCTGACTTCTTGTGTGCCTCCCTTTCCTTTCCCTCCCACAAAGCCAACACTCTGTGACCACCACACTCCAGGAGGCAGCCCCATCCCCTTCCAGCCCCTAAGTAGGCCCTCCCCTCCCTAAATCTGCTTCCGCACCACCTGGTCTTAGCCCCAAAGATGGGCCTTCTCTCTCCCAGATAAGTTGGTCCTCCCTCTGCCTTTCCTCTCAAGCCCCCAAAGAGCAAAGGCAACAGCAAGACCAGCGGGTTCTTGCAACACTGTGAGGGGCAGCCAGGGCGGCCCCAATAAAGCCCTTGAATACTTTGAGATTCCTTTCTTGCCTATGCGCACATCTCCATGGGCCTTGCCTGTGTGTGCACAAGTGGAACCTTTGCCAGGCTGCTCCAGTAGTCTCTGTGCCATCTCCAGCCCTGTTTCCAGGGGCAGAGAGGCAGGAAAGGAGAGGGCTGTAAACTCAGGTGAGACCTCTCAGCCCTGGGTCCCCTGCCTCATCACTGCCTAGGCCACATGAGAGGTCCCATGAGATGCTGTGACTATATTCGGTATAACCCTGTCTTTTCACTTACAGGACAGATCTTGCGCCCCAACCTCCAGTTTCCTAAATCGGCTTCTAGTCCAGGGGCTGGAGAAAAGAGTAGTGTGTTTGGCTAGGAAGGAGGATGAGAACCTCTACTCCATTTGGGAGCCCAGAGAATAGAGACATTGGCCCCAGAAGGCACTGCCAGAAACAAGTTTATTTACACAAGGACACACAGTGTAACGGGTTACAAAATACTTAACTGAAATCCATATCCAGGGAGACAAAGCAAGGAGTGGGTTTACATGAGAACCAGACCAGCCACAGGGAGAGAGTGGGTAAGGGGCCGGGAGCCTGGGGCTCAGCACAGAGAGGCCTAGTACACTGAGCCTGGCCCCATCCCCATCCCCCAGGAGGATCTAAAACAAACACACAAGCACACTATGAACCGATGGTGCTGGGACTCCTGCCCCTCCCCTGGCTCCCTCAATCCTGCTCAGGCCCCCATAGGATAATAAATATGTAAACAGATTGGTGGGGCCCTGGAGATAGAAGGAGAGAAAGTATATGTGGTACTGGGGAGGAGGAGGAAGGAAGAGTCAGCCCCCTAGGAGCCACTTCCCATCTTTGGTTTCCTACAGGCTGGATGGCATCCCCTGGAAGCCTTGTAGGCCCACAGCCCCTGGCAGGGCTCCTGGGAAAGAGAAGGGACAGCGCCCAGCCCCCTCCTGGTCTTAGCTCCCTTGGGCTGGTGGTCAGCAAAGGGAGCCCAGAAGGTATGGAAGCTCCAGCTGAGAGCCGACTCCTGGATCCCTGGGTTCTGGCCTTACC 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CAGGAGGGTTAGTGAGGGCCTGGAGGAGAGAGCTGGGTCCTGGACTCTCTGTGGATGATAAGAGCTGGCCTTGCAGTGAGAGGGGGTAGAGTGGGACGGCTGAGTATCTCAGAGCACACACACGGCTTACCACAATCTCTTGCCTCTGTATCAGTTTTATTTTTTATTTTATTCACTTTTTCTTTTTTTGAGACAGGATCTCACTCCATCACCAGGCTGGAGTACAATGGCACAATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGTGATCCTTCCCACTTCAGCCTCTGGAGTAGCAGGGACTACAGGCACACCCCAAGATGCCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGTCATGTTGCCCAGGCTATTCTCGAACTCCTGGGCTCAAGTGATCTGCCCGCCCAGCCTCCCAAGTAGCTGAGACTATAGGTGTGCACCACCACTTCCAGCTAATTTTTTGTTTTTGTTGAATCTGGGTCTTGCTATGTTGCCCAGGCTGGTCATGAACTCCTGGCTTCAAGTGATCCTCCAGCTAAGGCCTCCCAAAGTACTGGGATTACAGTCATGAGCCACTGTACCTGGCCCCAGACTAGTTTTTAAAAATAGTGTTTCCACAGGCTGAGGGTTAGGAAAAAAAAAAGAAAAGAAATAGTGTGCTTTCTTTCTCCTGTTCTAAGGTAGAAAACCATGGCAAGGTATCCATGGATACCTTGAGAGCAGTGGACAGAATCGTAGTCCCTTTTTGACTTCACCCCTCAGGCCCTCCAGAGTACTCTGTGTCCTGCCCGCCTTGTACCCCCCCTGGCTGTGTGTGCATGTGGAAAGTCATCTTGCATCTGTTCTCTTCCAGGTTTCTTTTTGGAGACAGGCCCTTTTGGTGGGTCCATGAGTCTGGTTACTACAGCCAGGCTCCAGCCCAGGTTCACCAGTTCCCCTCTTCTTGTGAGACTGGTCCAGGTGGGAAGCCTCAAACATTCTCCCTTTCCCAATGTGGTTAGGGTTCGGGTGAACATTTCAGAGTACTTTTCAGCCTGGGTGGCCCAACCAAAGGACCAGCCTCTCAATTACTGGCGCAGAGAACAAAAGAACCCCAGGGAGACCAAGCTGAGTTATGGGAGGAGGGCACTCATGCTATGTACCAGCTGCCCACCTTGTATAGAGGACAGCCAAGAGACACAGATCAGGACAGAAACCTGAGCACAGTGACCTCAAGTGGCAGTAAAAAGGCCTCAGAGCAGAGCGAGTTATGAATCAGTGCTGGGGAAAAGCTCTTCTCAGCCAGGAAAGGCAGCTGTATTATTGAGGCATCACCAGGGGCCCCGGGGTTCTGCCTCCATCTTCTCACCACGAGCTTCTGGATTTGCTGGCAGGCAGCCCTTCTGGACACTGCATGATCACAGGAGCAGCCCTCTGGCCCATAATGACGGCCCTGTCTTCGCAGGTGGCCACTCGGGCCCGCAGGTATACCCTTGGCATTGCCCACCATTGGGAGCAGGGGTGATGGCACCCTGTACCTAATAGACACAGCAGCATGGCAGCCTGGGAGCTGGAGTTTTGGGGACCCTAGGTTGTGTGGTTCAACCATGGAGTACCTGGGTGCTGCAGGAGGCCAAGCTGTGTATGGACACGCTCTGAGCTCCTTGCCTCTCTTCTTTCTAGCCGCTGGGTAAGGGTGATGCCTAGCCTGGCTTATTGCACCTTCCTTTTGGCGGTTGGCTTGTCGCGAATCTTCATCTTAGCACATTTCCCTCACCAGGTGCTGGCTGGCCTAATAACTGGTGAGCAACTGGGGCAACGGGGTGGACTGAGAGGATGCCTTTGGCAGTGGGAGGATCAGTCTAGGATCTTCCCATCGCTCCCAGCTTCTGTAGAGCCCACCCCAGAGGCCCCCCGTTATGTCTCAGTTTATTCTCTTGCCAAGCTGCACTGCAGCTGGGGGTCGGGGTGGGGAGGGTCATATCCCCAGACTCCTTGAAGCTGTTGTCACTCCACTCTCCTAGGCGCTGTCCTGGGCTGGCTGATGACTCCCTGAGTGCCTATGGAGCGGGAGCTAAGCTTCTATGGGTTGACTGCACTGGCCCTCATGCTAGGCACCAGCCTCATCTATTGGACCCTCTTTACACTGGGCCTGGATCTTTCTTGGTAAGTCTCGCTTTGAAGCCTGGGCAGGCTGGGCCCTGTCCTATCTCGCCTGCACCTAGCCTGGTGTGTCTCTGGTTCATTATAGCTAAAAAAGGACACATTACCTATTCACATAGACCCTCACAGGCACAAAACAGAACATGGGAGTGGGCCCCAAGGGCAGATGGCCAAGAGCCAGTGGCCTTCTATGTTCCAGCCTCTCCTGGCAAGAACTCTTCTTCCCCACAGGTCCATCAGCCTAGCCTTCAAGTGGTGTGAGCGGCCTGAGTGGATACACGTGGATAGCCGGCCCTTTGCCTCCCTGAGCCGTGACTCAGGGGCTGCCCTGGGCCTGGGCATTGCCTTGCACTCTCCCTGCTATGCCCAGGTGCGTCGGGCACAGCTGGGAAATGGCCAGAAGATAGCCTGCCTTGTGCTGGCCATGGGGCTGCTGGGCCCCCTGGACTGGCTGGGCCACCCCCCTCAGATCAGCCTCTTCTACATTTTCAATTTCCTCAAGTACACCCTCTGGCCATGCCTAGTCCTGGCCCTCGTGCCCTGGGCAGTGCACATGTTCAGTGCCCAGGAAGCACCGCCCATCCACTCTTCCTGACTTCTTGTGTGCCTCCCTTTCCTTTCCCTCCCACAAAGCCAACACTCTGTGACCACCACACTCCAGGAGGCAGCCCCATCCCCTTCCAGCCCCTAAGTAGGCCCTCCCCTCCCTAAATCTGCTTCCGCACCACCTGGTCTTAGCCCCAAAGATGGGCCTTCTCTCTCCCAGATAAGTTGGTCCTCCCTCTGCCTTTCCTCTCAAGCCCCCAAAGAGCAAAGGCAACAGCAAGACCAGCGGGTTCTTGCAACACTGTGAGGGGCAGCCAGGGCGGCCCCAATAAAGCCCTTGAATACTTTGAGATTCCTTTCTTGCCTATGCGCACATCTCCATGGGCCTTGCCTGTGTGTGCACAAGTGGAACCTTTGCCAGGCTGCTCCAGTAGTCTCTGTGCCATCTCCAGCCCTGTTTCCAGGGGCAGAGAGGCAGGAAAGGAGAGGGCTGTAAACTCAGGTGAGACCTCTCAGCCCTGGGTCCCCTGCCTCATCACTGCCTAGGCCACATGAGAGGTCCCATGAGATGCTGTGACTATATTCGGTATAACCCTGTCTTTTCACTTACAGGACAGATCTTGCGCCCCAACCTCCAGTTTCCTAAATCGGCTTCTAGTCCAGGGGCTGGAGAAAAGAGTAGTGTGTTTGGCTAGGAAGGAGGATGAGAACCTCTACTCCATTTGGGAGCCCAGAGAATAGAGACATTGGCCCCAGAAGGCACTGCCAGAAACAAGTTTATTTACACAAGGACACACAGTGTAACGGGTTACAAAATACTTAACTGAAATCCATATCCAGGGAGACAAAGCAAGGAGTGGGTTTACATGAGAACCAGACCAGCCACAGGGAGAGAGTGGGTAAGGGGCCGGGAGCCTGGGGCTCAGCACAGAGAGGCCTAGTACACTGAGCCTGGCCCCATCCCCATCCCCCAGGAGGATCTAAAACAAACACACAAGCACACTATGAACCGATGGTGCTGGGACTCCTGCCCCTCCCCTGGCTCCCTCAATCCTGCTCAGGCCCCCATAGGATAATAAATATGTAAACAGATTGGTGGGGCCCTGGAGATAGAAGGAGAGAAAGTATATGTGGTACTGGGGAGGAGGAGGAAGGAAGAGTCAGCCCCCTAGGAGCCACTTCCCATCTTTGGTTTCCTACAGGCTGGATGGCATCCCCTGGAAGCCTTGTAGGCCCACAGCCCCTGGCAGGGCTCCTGGGAAAGAGAAGGGACAGCGCCCAGCCCCCTCCTGGTCTTAGCTCCCTTGGGCTGGTGGTCAGCAAAGGGAGCCCAGAAGGTATGGAAGCTCCAGCTGAGAGCCGACTCCTGGATCCCTGGGTTCTGGCCTTACC 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Task1_train_24657 | This alteration occurs within gene G6PC3 (glucose-6-phosphatase catalytic subunit 3) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | CAGCCTCCCAAGTAGCTGAGACTATAGGTGTGCACCACCACTTCCAGCTAATTTTTTGTTTTTGTTGAATCTGGGTCTTGCTATGTTGCCCAGGCTGGTCATGAACTCCTGGCTTCAAGTGATCCTCCAGCTAAGGCCTCCCAAAGTACTGGGATTACAGTCATGAGCCACTGTACCTGGCCCCAGACTAGTTTTTAAAAATAGTGTTTCCACAGGCTGAGGGTTAGGAAAAAAAAAAGAAAAGAAATAGTGTGCTTTCTTTCTCCTGTTCTAAGGTAGAAAACCATGGCAAGGTATCCATGGATACCTTGAGAGCAGTGGACAGAATCGTAGTCCCTTTTTGACTTCACCCCTCAGGCCCTCCAGAGTACTCTGTGTCCTGCCCGCCTTGTACCCCCCCTGGCTGTGTGTGCATGTGGAAAGTCATCTTGCATCTGTTCTCTTCCAGGTTTCTTTTTGGAGACAGGCCCTTTTGGTGGGTCCATGAGTCTGGTTACTACAGCCAGGCTCCAGCCCAGGTTCACCAGTTCCCCTCTTCTTGTGAGACTGGTCCAGGTGGGAAGCCTCAAACATTCTCCCTTTCCCAATGTGGTTAGGGTTCGGGTGAACATTTCAGAGTACTTTTCAGCCTGGGTGGCCCAACCAAAGGACCAGCCTCTCAATTACTGGCGCAGAGAACAAAAGAACCCCAGGGAGACCAAGCTGAGTTATGGGAGGAGGGCACTCATGCTATGTACCAGCTGCCCACCTTGTATAGAGGACAGCCAAGAGACACAGATCAGGACAGAAACCTGAGCACAGTGACCTCAAGTGGCAGTAAAAAGGCCTCAGAGCAGAGCGAGTTATGAATCAGTGCTGGGGAAAAGCTCTTCTCAGCCAGGAAAGGCAGCTGTATTATTGAGGCATCACCAGGGGCCCCGGGGTTCTGCCTCCATCTTCTCACCACGAGCTTCTGGATTTGCTGGCAGGCAGCCCTTCTGGACACTGCATGATCACAGGAGCAGCCCTCTGGCCCATAATGACGGCCCTGTCTTCGCAGGTGGCCACTCGGGCCCGCAGGTATACCCTTGGCATTGCCCACCATTGGGAGCAGGGGTGATGGCACCCTGTACCTAATAGACACAGCAGCATGGCAGCCTGGGAGCTGGAGTTTTGGGGACCCTAGGTTGTGTGGTTCAACCATGGAGTACCTGGGTGCTGCAGGAGGCCAAGCTGTGTATGGACACGCTCTGAGCTCCTTGCCTCTCTTCTTTCTAGCCGCTGGGTAAGGGTGATGCCTAGCCTGGCTTATTGCACCTTCCTTTTGGCGGTTGGCTTGTCGCGAATCTTCATCTTAGCACATTTCCCTCACCAGGTGCTGGCTGGCCTAATAACTGGTGAGCAACTGGGGCAACGGGGTGGACTGAGAGGATGCCTTTGGCAGTGGGAGGATCAGTCTAGGATCTTCCCATCGCTCCCAGCTTCTGTAGAGCCCACCCCAGAGGCCCCCCGTTATGTCTCAGTTTATTCTCTTGCCAAGCTGCACTGCAGCTGGGGGTCGGGGTGGGGAGGGTCATATCCCCAGACTCCTTGAAGCTGTTGTCACTCCACTCTCCTAGGCGCTGTCCTGGGCTGGCTGATGACTCCCCGAGTGCCTATGGAGCGGGAGCTAAGCTTCTATGGGTTGACTGCACTGGCCCTCATGCTAGGCACCAGCCTCATCTATTGGACCCTCTTTACACTGGGCCTGGATCTTTCTTGGTAAGTCTCGCTTTGAAGCCTGGGCAGGCTGGGCCCTGTCCTATCTCGCCTGCACCTAGCCTGGTGTGTCTCTGGTTCATTATAGCTAAAAAAGGACACATTACCTATTCACATAGACCCTCACAGGCACAAAACAGAACATGGGAGTGGGCCCCAAGGGCAGATGGCCAAGAGCCAGTGGCCTTCTATGTTCCAGCCTCTCCTGGCAAGAACTCTTCTTCCCCACAGGTCCATCAGCCTAGCCTTCAAGTGGTGTGAGCGGCCTGAGTGGATACACGTGGATAGCCGGCCCTTTGCCTCCCTGAGCCGTGACTCAGGGGCTGCCCTGGGCCTGGGCATTGCCTTGCACTCTCCCTGCTATGCCCAGGTGCGTCGGGCACAGCTGGGAAATGGCCAGAAGATAGCCTGCCTTGTGCTGGCCATGGGGCTGCTGGGCCCCCTGGACTGGCTGGGCCACCCCCCTCAGATCAGCCTCTTCTACATTTTCAATTTCCTCAAGTACACCCTCTGGCCATGCCTAGTCCTGGCCCTCGTGCCCTGGGCAGTGCACATGTTCAGTGCCCAGGAAGCACCGCCCATCCACTCTTCCTGACTTCTTGTGTGCCTCCCTTTCCTTTCCCTCCCACAAAGCCAACACTCTGTGACCACCACACTCCAGGAGGCAGCCCCATCCCCTTCCAGCCCCTAAGTAGGCCCTCCCCTCCCTAAATCTGCTTCCGCACCACCTGGTCTTAGCCCCAAAGATGGGCCTTCTCTCTCCCAGATAAGTTGGTCCTCCCTCTGCCTTTCCTCTCAAGCCCCCAAAGAGCAAAGGCAACAGCAAGACCAGCGGGTTCTTGCAACACTGTGAGGGGCAGCCAGGGCGGCCCCAATAAAGCCCTTGAATACTTTGAGATTCCTTTCTTGCCTATGCGCACATCTCCATGGGCCTTGCCTGTGTGTGCACAAGTGGAACCTTTGCCAGGCTGCTCCAGTAGTCTCTGTGCCATCTCCAGCCCTGTTTCCAGGGGCAGAGAGGCAGGAAAGGAGAGGGCTGTAAACTCAGGTGAGACCTCTCAGCCCTGGGTCCCCTGCCTCATCACTGCCTAGGCCACATGAGAGGTCCCATGAGATGCTGTGACTATATTCGGTATAACCCTGTCTTTTCACTTACAGGACAGATCTTGCGCCCCAACCTCCAGTTTCCTAAATCGGCTTCTAGTCCAGGGGCTGGAGAAAAGAGTAGTGTGTTTGGCTAGGAAGGAGGATGAGAACCTCTACTCCATTTGGGAGCCCAGAGAATAGAGACATTGGCCCCAGAAGGCACTGCCAGAAACAAGTTTATTTACACAAGGACACACAGTGTAACGGGTTACAAAATACTTAACTGAAATCCATATCCAGGGAGACAAAGCAAGGAGTGGGTTTACATGAGAACCAGACCAGCCACAGGGAGAGAGTGGGTAAGGGGCCGGGAGCCTGGGGCTCAGCACAGAGAGGCCTAGTACACTGAGCCTGGCCCCATCCCCATCCCCCAGGAGGATCTAAAACAAACACACAAGCACACTATGAACCGATGGTGCTGGGACTCCTGCCCCTCCCCTGGCTCCCTCAATCCTGCTCAGGCCCCCATAGGATAATAAATATGTAAACAGATTGGTGGGGCCCTGGAGATAGAAGGAGAGAAAGTATATGTGGTACTGGGGAGGAGGAGGAAGGAAGAGTCAGCCCCCTAGGAGCCACTTCCCATCTTTGGTTTCCTACAGGCTGGATGGCATCCCCTGGAAGCCTTGTAGGCCCACAGCCCCTGGCAGGGCTCCTGGGAAAGAGAAGGGACAGCGCCCAGCCCCCTCCTGGTCTTAGCTCCCTTGGGCTGGTGGTCAGCAAAGGGAGCCCAGAAGGTATGGAAGCTCCAGCTGAGAGCCGACTCCTGGATCCCTGGGTTCTGGCCTTACCCCTTCTAGAACCTCCATTCTCACCATCCCCAGGATCCAAAACAAAAGGCCCCAGGAGGGAGGTGAGCCTCTGCCCCTTCTCCCCGCAGCATGCTGGATGGCTGGGAAAATCTGGTCCTGACAGCAGGGGGGCTCTCACCAGCCTGGAGCCCCTCTGCAGGGACCACCTTCTCCCCTTGCCCAGGCTGTGCCAGCAGAGGGGCAGGGAGGCCATCCGAGTAAGGTGGGGAGCAGACCTGGTTCTGTTACTCCTCCTGGCCCCTGAGAACCCAGGAAACCAGTCCTCTCCTTCCCCACACACTTTCACCCTCTCAGCCCCGGGGAAGGGGAAGTAGGCTGTGAGGAGTGTGAGGCAAGACAGCCCTCCTCACAGACTGCAGGCCACAGCTTGGGCACCAGCCTCCCATCAGTGCTGAGACCAA 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CAGCCTCCCAAGTAGCTGAGACTATAGGTGTGCACCACCACTTCCAGCTAATTTTTTGTTTTTGTTGAATCTGGGTCTTGCTATGTTGCCCAGGCTGGTCATGAACTCCTGGCTTCAAGTGATCCTCCAGCTAAGGCCTCCCAAAGTACTGGGATTACAGTCATGAGCCACTGTACCTGGCCCCAGACTAGTTTTTAAAAATAGTGTTTCCACAGGCTGAGGGTTAGGAAAAAAAAAAGAAAAGAAATAGTGTGCTTTCTTTCTCCTGTTCTAAGGTAGAAAACCATGGCAAGGTATCCATGGATACCTTGAGAGCAGTGGACAGAATCGTAGTCCCTTTTTGACTTCACCCCTCAGGCCCTCCAGAGTACTCTGTGTCCTGCCCGCCTTGTACCCCCCCTGGCTGTGTGTGCATGTGGAAAGTCATCTTGCATCTGTTCTCTTCCAGGTTTCTTTTTGGAGACAGGCCCTTTTGGTGGGTCCATGAGTCTGGTTACTACAGCCAGGCTCCAGCCCAGGTTCACCAGTTCCCCTCTTCTTGTGAGACTGGTCCAGGTGGGAAGCCTCAAACATTCTCCCTTTCCCAATGTGGTTAGGGTTCGGGTGAACATTTCAGAGTACTTTTCAGCCTGGGTGGCCCAACCAAAGGACCAGCCTCTCAATTACTGGCGCAGAGAACAAAAGAACCCCAGGGAGACCAAGCTGAGTTATGGGAGGAGGGCACTCATGCTATGTACCAGCTGCCCACCTTGTATAGAGGACAGCCAAGAGACACAGATCAGGACAGAAACCTGAGCACAGTGACCTCAAGTGGCAGTAAAAAGGCCTCAGAGCAGAGCGAGTTATGAATCAGTGCTGGGGAAAAGCTCTTCTCAGCCAGGAAAGGCAGCTGTATTATTGAGGCATCACCAGGGGCCCCGGGGTTCTGCCTCCATCTTCTCACCACGAGCTTCTGGATTTGCTGGCAGGCAGCCCTTCTGGACACTGCATGATCACAGGAGCAGCCCTCTGGCCCATAATGACGGCCCTGTCTTCGCAGGTGGCCACTCGGGCCCGCAGGTATACCCTTGGCATTGCCCACCATTGGGAGCAGGGGTGATGGCACCCTGTACCTAATAGACACAGCAGCATGGCAGCCTGGGAGCTGGAGTTTTGGGGACCCTAGGTTGTGTGGTTCAACCATGGAGTACCTGGGTGCTGCAGGAGGCCAAGCTGTGTATGGACACGCTCTGAGCTCCTTGCCTCTCTTCTTTCTAGCCGCTGGGTAAGGGTGATGCCTAGCCTGGCTTATTGCACCTTCCTTTTGGCGGTTGGCTTGTCGCGAATCTTCATCTTAGCACATTTCCCTCACCAGGTGCTGGCTGGCCTAATAACTGGTGAGCAACTGGGGCAACGGGGTGGACTGAGAGGATGCCTTTGGCAGTGGGAGGATCAGTCTAGGATCTTCCCATCGCTCCCAGCTTCTGTAGAGCCCACCCCAGAGGCCCCCCGTTATGTCTCAGTTTATTCTCTTGCCAAGCTGCACTGCAGCTGGGGGTCGGGGTGGGGAGGGTCATATCCCCAGACTCCTTGAAGCTGTTGTCACTCCACTCTCCTAGGCGCTGTCCTGGGCTGGCTGATGACTCCCCGAGTGCCTATGGAGCGGGAGCTAAGCTTCTATGGGTTGACTGCACTGGCCCTCATGCTAGGCACCAGCCTCATCTATTGGACCCTCTTTACACTGGGCCTGGATCTTTCTTGGTAAGTCTCGCTTTGAAGCCTGGGCAGGCTGGGCCCTGTCCTATCTCGCCTGCACCTAGCCTGGTGTGTCTCTGGTTCATTATAGCTAAAAAAGGACACATTACCTATTCACATAGACCCTCACAGGCACAAAACAGAACATGGGAGTGGGCCCCAAGGGCAGATGGCCAAGAGCCAGTGGCCTTCTATGTTCCAGCCTCTCCTGGCAAGAACTCTTCTTCCCCACAGGTCCATCAGCCTAGCCTTCAAGTGGTGTGAGCGGCCTGAGTGGATACACGTGGATAGCCGGCCCTTTGCCTCCCTGAGCCATGACTCAGGGGCTGCCCTGGGCCTGGGCATTGCCTTGCACTCTCCCTGCTATGCCCAGGTGCGTCGGGCACAGCTGGGAAATGGCCAGAAGATAGCCTGCCTTGTGCTGGCCATGGGGCTGCTGGGCCCCCTGGACTGGCTGGGCCACCCCCCTCAGATCAGCCTCTTCTACATTTTCAATTTCCTCAAGTACACCCTCTGGCCATGCCTAGTCCTGGCCCTCGTGCCCTGGGCAGTGCACATGTTCAGTGCCCAGGAAGCACCGCCCATCCACTCTTCCTGACTTCTTGTGTGCCTCCCTTTCCTTTCCCTCCCACAAAGCCAACACTCTGTGACCACCACACTCCAGGAGGCAGCCCCATCCCCTTCCAGCCCCTAAGTAGGCCCTCCCCTCCCTAAATCTGCTTCCGCACCACCTGGTCTTAGCCCCAAAGATGGGCCTTCTCTCTCCCAGATAAGTTGGTCCTCCCTCTGCCTTTCCTCTCAAGCCCCCAAAGAGCAAAGGCAACAGCAAGACCAGCGGGTTCTTGCAACACTGTGAGGGGCAGCCAGGGCGGCCCCAATAAAGCCCTTGAATACTTTGAGATTCCTTTCTTGCCTATGCGCACATCTCCATGGGCCTTGCCTGTGTGTGCACAAGTGGAACCTTTGCCAGGCTGCTCCAGTAGTCTCTGTGCCATCTCCAGCCCTGTTTCCAGGGGCAGAGAGGCAGGAAAGGAGAGGGCTGTAAACTCAGGTGAGACCTCTCAGCCCTGGGTCCCCTGCCTCATCACTGCCTAGGCCACATGAGAGGTCCCATGAGATGCTGTGACTATATTCGGTATAACCCTGTCTTTTCACTTACAGGACAGATCTTGCGCCCCAACCTCCAGTTTCCTAAATCGGCTTCTAGTCCAGGGGCTGGAGAAAAGAGTAGTGTGTTTGGCTAGGAAGGAGGATGAGAACCTCTACTCCATTTGGGAGCCCAGAGAATAGAGACATTGGCCCCAGAAGGCACTGCCAGAAACAAGTTTATTTACACAAGGACACACAGTGTAACGGGTTACAAAATACTTAACTGAAATCCATATCCAGGGAGACAAAGCAAGGAGTGGGTTTACATGAGAACCAGACCAGCCACAGGGAGAGAGTGGGTAAGGGGCCGGGAGCCTGGGGCTCAGCACAGAGAGGCCTAGTACACTGAGCCTGGCCCCATCCCCATCCCCCAGGAGGATCTAAAACAAACACACAAGCACACTATGAACCGATGGTGCTGGGACTCCTGCCCCTCCCCTGGCTCCCTCAATCCTGCTCAGGCCCCCATAGGATAATAAATATGTAAACAGATTGGTGGGGCCCTGGAGATAGAAGGAGAGAAAGTATATGTGGTACTGGGGAGGAGGAGGAAGGAAGAGTCAGCCCCCTAGGAGCCACTTCCCATCTTTGGTTTCCTACAGGCTGGATGGCATCCCCTGGAAGCCTTGTAGGCCCACAGCCCCTGGCAGGGCTCCTGGGAAAGAGAAGGGACAGCGCCCAGCCCCCTCCTGGTCTTAGCTCCCTTGGGCTGGTGGTCAGCAAAGGGAGCCCAGAAGGTATGGAAGCTCCAGCTGAGAGCCGACTCCTGGATCCCTGGGTTCTGGCCTTACCCCTTCTAGAACCTCCATTCTCACCATCCCCAGGATCCAAAACAAAAGGCCCCAGGAGGGAGGTGAGCCTCTGCCCCTTCTCCCCGCAGCATGCTGGATGGCTGGGAAAATCTGGTCCTGACAGCAGGGGGGCTCTCACCAGCCTGGAGCCCCTCTGCAGGGACCACCTTCTCCCCTTGCCCAGGCTGTGCCAGCAGAGGGGCAGGGAGGCCATCCGAGTAAGGTGGGGAGCAGACCTGGTTCTGTTACTCCTCCTGGCCCCTGAGAACCCAGGAAACCAGTCCTCTCCTTCCCCACACACTTTCACCCTCTCAGCCCCGGGGAAGGGGAAGTAGGCTGTGAGGAGTGTGAGGCAAGACAGCCCTCCTCACAGACTGCAGGCCACAGCTTGGGCACCAGCCTCCCATCAGTGCTGAGACCAA 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Task1_train_24658 | The variant affects gene G6PC3 (glucose-6-phosphatase catalytic subunit 3), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | ACTATAGGTGTGCACCACCACTTCCAGCTAATTTTTTGTTTTTGTTGAATCTGGGTCTTGCTATGTTGCCCAGGCTGGTCATGAACTCCTGGCTTCAAGTGATCCTCCAGCTAAGGCCTCCCAAAGTACTGGGATTACAGTCATGAGCCACTGTACCTGGCCCCAGACTAGTTTTTAAAAATAGTGTTTCCACAGGCTGAGGGTTAGGAAAAAAAAAAGAAAAGAAATAGTGTGCTTTCTTTCTCCTGTTCTAAGGTAGAAAACCATGGCAAGGTATCCATGGATACCTTGAGAGCAGTGGACAGAATCGTAGTCCCTTTTTGACTTCACCCCTCAGGCCCTCCAGAGTACTCTGTGTCCTGCCCGCCTTGTACCCCCCCTGGCTGTGTGTGCATGTGGAAAGTCATCTTGCATCTGTTCTCTTCCAGGTTTCTTTTTGGAGACAGGCCCTTTTGGTGGGTCCATGAGTCTGGTTACTACAGCCAGGCTCCAGCCCAGGTTCACCAGTTCCCCTCTTCTTGTGAGACTGGTCCAGGTGGGAAGCCTCAAACATTCTCCCTTTCCCAATGTGGTTAGGGTTCGGGTGAACATTTCAGAGTACTTTTCAGCCTGGGTGGCCCAACCAAAGGACCAGCCTCTCAATTACTGGCGCAGAGAACAAAAGAACCCCAGGGAGACCAAGCTGAGTTATGGGAGGAGGGCACTCATGCTATGTACCAGCTGCCCACCTTGTATAGAGGACAGCCAAGAGACACAGATCAGGACAGAAACCTGAGCACAGTGACCTCAAGTGGCAGTAAAAAGGCCTCAGAGCAGAGCGAGTTATGAATCAGTGCTGGGGAAAAGCTCTTCTCAGCCAGGAAAGGCAGCTGTATTATTGAGGCATCACCAGGGGCCCCGGGGTTCTGCCTCCATCTTCTCACCACGAGCTTCTGGATTTGCTGGCAGGCAGCCCTTCTGGACACTGCATGATCACAGGAGCAGCCCTCTGGCCCATAATGACGGCCCTGTCTTCGCAGGTGGCCACTCGGGCCCGCAGGTATACCCTTGGCATTGCCCACCATTGGGAGCAGGGGTGATGGCACCCTGTACCTAATAGACACAGCAGCATGGCAGCCTGGGAGCTGGAGTTTTGGGGACCCTAGGTTGTGTGGTTCAACCATGGAGTACCTGGGTGCTGCAGGAGGCCAAGCTGTGTATGGACACGCTCTGAGCTCCTTGCCTCTCTTCTTTCTAGCCGCTGGGTAAGGGTGATGCCTAGCCTGGCTTATTGCACCTTCCTTTTGGCGGTTGGCTTGTCGCGAATCTTCATCTTAGCACATTTCCCTCACCAGGTGCTGGCTGGCCTAATAACTGGTGAGCAACTGGGGCAACGGGGTGGACTGAGAGGATGCCTTTGGCAGTGGGAGGATCAGTCTAGGATCTTCCCATCGCTCCCAGCTTCTGTAGAGCCCACCCCAGAGGCCCCCCGTTATGTCTCAGTTTATTCTCTTGCCAAGCTGCACTGCAGCTGGGGGTCGGGGTGGGGAGGGTCATATCCCCAGACTCCTTGAAGCTGTTGTCACTCCACTCTCCTAGGCGCTGTCCTGGGCTGGCTGATGACTCCCCGAGTGCCTATGGAGCGGGAGCTAAGCTTCTATGGGTTGACTGCACTGGCCCTCATGCTAGGCACCAGCCTCATCTATTGGACCCTCTTTACACTGGGCCTGGATCTTTCTTGGTAAGTCTCGCTTTGAAGCCTGGGCAGGCTGGGCCCTGTCCTATCTCGCCTGCACCTAGCCTGGTGTGTCTCTGGTTCATTATAGCTAAAAAAGGACACATTACCTATTCACATAGACCCTCACAGGCACAAAACAGAACATGGGAGTGGGCCCCAAGGGCAGATGGCCAAGAGCCAGTGGCCTTCTATGTTCCAGCCTCTCCTGGCAAGAACTCTTCTTCCCCACAGGTCCATCAGCCTAGCCTTCAAGTGGTGTGAGCGGCCTGAGTGGATACACGTGGATAGCCGGCCCTTTGCCTCCCTGAGCCGTGACTCAGGGGCTGCCCTGGGCCTGGGCATTGCCTTGCACTCTCCCTGCTATGCCCAGGTGCGTCGGGCACAGCTGGGAAATGGCCAGAAGATAGCCTGCCTTGTGCTGGCCATGGGGCTGCTGGGCCCCCTGGACTGGCTGGGCCACCCCCCTCAGATCAGCCTCTTCTACATTTTCAATTTCCTCAAGTACACCCTCTGGCCATGCCTAGTCCTGGCCCTCGTGCCCTGGGCAGTGCACATGTTCAGTGCCCAGGAAGCACCGCCCATCCACTCTTCCTGACTTCTTGTGTGCCTCCCTTTCCTTTCCCTCCCACAAAGCCAACACTCTGTGACCACCACACTCCAGGAGGCAGCCCCATCCCCTTCCAGCCCCTAAGTAGGCCCTCCCCTCCCTAAATCTGCTTCCGCACCACCTGGTCTTAGCCCCAAAGATGGGCCTTCTCTCTCCCAGATAAGTTGGTCCTCCCTCTGCCTTTCCTCTCAAGCCCCCAAAGAGCAAAGGCAACAGCAAGACCAGCGGGTTCTTGCAACACTGTGAGGGGCAGCCAGGGCGGCCCCAATAAAGCCCTTGAATACTTTGAGATTCCTTTCTTGCCTATGCGCACATCTCCATGGGCCTTGCCTGTGTGTGCACAAGTGGAACCTTTGCCAGGCTGCTCCAGTAGTCTCTGTGCCATCTCCAGCCCTGTTTCCAGGGGCAGAGAGGCAGGAAAGGAGAGGGCTGTAAACTCAGGTGAGACCTCTCAGCCCTGGGTCCCCTGCCTCATCACTGCCTAGGCCACATGAGAGGTCCCATGAGATGCTGTGACTATATTCGGTATAACCCTGTCTTTTCACTTACAGGACAGATCTTGCGCCCCAACCTCCAGTTTCCTAAATCGGCTTCTAGTCCAGGGGCTGGAGAAAAGAGTAGTGTGTTTGGCTAGGAAGGAGGATGAGAACCTCTACTCCATTTGGGAGCCCAGAGAATAGAGACATTGGCCCCAGAAGGCACTGCCAGAAACAAGTTTATTTACACAAGGACACACAGTGTAACGGGTTACAAAATACTTAACTGAAATCCATATCCAGGGAGACAAAGCAAGGAGTGGGTTTACATGAGAACCAGACCAGCCACAGGGAGAGAGTGGGTAAGGGGCCGGGAGCCTGGGGCTCAGCACAGAGAGGCCTAGTACACTGAGCCTGGCCCCATCCCCATCCCCCAGGAGGATCTAAAACAAACACACAAGCACACTATGAACCGATGGTGCTGGGACTCCTGCCCCTCCCCTGGCTCCCTCAATCCTGCTCAGGCCCCCATAGGATAATAAATATGTAAACAGATTGGTGGGGCCCTGGAGATAGAAGGAGAGAAAGTATATGTGGTACTGGGGAGGAGGAGGAAGGAAGAGTCAGCCCCCTAGGAGCCACTTCCCATCTTTGGTTTCCTACAGGCTGGATGGCATCCCCTGGAAGCCTTGTAGGCCCACAGCCCCTGGCAGGGCTCCTGGGAAAGAGAAGGGACAGCGCCCAGCCCCCTCCTGGTCTTAGCTCCCTTGGGCTGGTGGTCAGCAAAGGGAGCCCAGAAGGTATGGAAGCTCCAGCTGAGAGCCGACTCCTGGATCCCTGGGTTCTGGCCTTACCCCTTCTAGAACCTCCATTCTCACCATCCCCAGGATCCAAAACAAAAGGCCCCAGGAGGGAGGTGAGCCTCTGCCCCTTCTCCCCGCAGCATGCTGGATGGCTGGGAAAATCTGGTCCTGACAGCAGGGGGGCTCTCACCAGCCTGGAGCCCCTCTGCAGGGACCACCTTCTCCCCTTGCCCAGGCTGTGCCAGCAGAGGGGCAGGGAGGCCATCCGAGTAAGGTGGGGAGCAGACCTGGTTCTGTTACTCCTCCTGGCCCCTGAGAACCCAGGAAACCAGTCCTCTCCTTCCCCACACACTTTCACCCTCTCAGCCCCGGGGAAGGGGAAGTAGGCTGTGAGGAGTGTGAGGCAAGACAGCCCTCCTCACAGACTGCAGGCCACAGCTTGGGCACCAGCCTCCCATCAGTGCTGAGACCAAGAGGAAGGAGGAGGAGAGGG | ACTATAGGTGTGCACCACCACTTCCAGCTAATTTTTTGTTTTTGTTGAATCTGGGTCTTGCTATGTTGCCCAGGCTGGTCATGAACTCCTGGCTTCAAGTGATCCTCCAGCTAAGGCCTCCCAAAGTACTGGGATTACAGTCATGAGCCACTGTACCTGGCCCCAGACTAGTTTTTAAAAATAGTGTTTCCACAGGCTGAGGGTTAGGAAAAAAAAAAGAAAAGAAATAGTGTGCTTTCTTTCTCCTGTTCTAAGGTAGAAAACCATGGCAAGGTATCCATGGATACCTTGAGAGCAGTGGACAGAATCGTAGTCCCTTTTTGACTTCACCCCTCAGGCCCTCCAGAGTACTCTGTGTCCTGCCCGCCTTGTACCCCCCCTGGCTGTGTGTGCATGTGGAAAGTCATCTTGCATCTGTTCTCTTCCAGGTTTCTTTTTGGAGACAGGCCCTTTTGGTGGGTCCATGAGTCTGGTTACTACAGCCAGGCTCCAGCCCAGGTTCACCAGTTCCCCTCTTCTTGTGAGACTGGTCCAGGTGGGAAGCCTCAAACATTCTCCCTTTCCCAATGTGGTTAGGGTTCGGGTGAACATTTCAGAGTACTTTTCAGCCTGGGTGGCCCAACCAAAGGACCAGCCTCTCAATTACTGGCGCAGAGAACAAAAGAACCCCAGGGAGACCAAGCTGAGTTATGGGAGGAGGGCACTCATGCTATGTACCAGCTGCCCACCTTGTATAGAGGACAGCCAAGAGACACAGATCAGGACAGAAACCTGAGCACAGTGACCTCAAGTGGCAGTAAAAAGGCCTCAGAGCAGAGCGAGTTATGAATCAGTGCTGGGGAAAAGCTCTTCTCAGCCAGGAAAGGCAGCTGTATTATTGAGGCATCACCAGGGGCCCCGGGGTTCTGCCTCCATCTTCTCACCACGAGCTTCTGGATTTGCTGGCAGGCAGCCCTTCTGGACACTGCATGATCACAGGAGCAGCCCTCTGGCCCATAATGACGGCCCTGTCTTCGCAGGTGGCCACTCGGGCCCGCAGGTATACCCTTGGCATTGCCCACCATTGGGAGCAGGGGTGATGGCACCCTGTACCTAATAGACACAGCAGCATGGCAGCCTGGGAGCTGGAGTTTTGGGGACCCTAGGTTGTGTGGTTCAACCATGGAGTACCTGGGTGCTGCAGGAGGCCAAGCTGTGTATGGACACGCTCTGAGCTCCTTGCCTCTCTTCTTTCTAGCCGCTGGGTAAGGGTGATGCCTAGCCTGGCTTATTGCACCTTCCTTTTGGCGGTTGGCTTGTCGCGAATCTTCATCTTAGCACATTTCCCTCACCAGGTGCTGGCTGGCCTAATAACTGGTGAGCAACTGGGGCAACGGGGTGGACTGAGAGGATGCCTTTGGCAGTGGGAGGATCAGTCTAGGATCTTCCCATCGCTCCCAGCTTCTGTAGAGCCCACCCCAGAGGCCCCCCGTTATGTCTCAGTTTATTCTCTTGCCAAGCTGCACTGCAGCTGGGGGTCGGGGTGGGGAGGGTCATATCCCCAGACTCCTTGAAGCTGTTGTCACTCCACTCTCCTAGGCGCTGTCCTGGGCTGGCTGATGACTCCCCGAGTGCCTATGGAGCGGGAGCTAAGCTTCTATGGGTTGACTGCACTGGCCCTCATGCTAGGCACCAGCCTCATCTATTGGACCCTCTTTACACTGGGCCTGGATCTTTCTTGGTAAGTCTCGCTTTGAAGCCTGGGCAGGCTGGGCCCTGTCCTATCTCGCCTGCACCTAGCCTGGTGTGTCTCTGGTTCATTATAGCTAAAAAAGGACACATTACCTATTCACATAGACCCTCACAGGCACAAAACAGAACATGGGAGTGGGCCCCAAGGGCAGATGGCCAAGAGCCAGTGGCCTTCTATGTTCCAGCCTCTCCTGGCAAGAACTCTTCTTCCCCACAGGTCCATCAGCCTAGCCTTCAAGTGGTGTGAGCGGCCTGAGTGGATACACGTGGATAGCCGGCCCTTTGCCTCCCTGAGCCGTGACTCAGGGGCTGCCCTGCGCCTGGGCATTGCCTTGCACTCTCCCTGCTATGCCCAGGTGCGTCGGGCACAGCTGGGAAATGGCCAGAAGATAGCCTGCCTTGTGCTGGCCATGGGGCTGCTGGGCCCCCTGGACTGGCTGGGCCACCCCCCTCAGATCAGCCTCTTCTACATTTTCAATTTCCTCAAGTACACCCTCTGGCCATGCCTAGTCCTGGCCCTCGTGCCCTGGGCAGTGCACATGTTCAGTGCCCAGGAAGCACCGCCCATCCACTCTTCCTGACTTCTTGTGTGCCTCCCTTTCCTTTCCCTCCCACAAAGCCAACACTCTGTGACCACCACACTCCAGGAGGCAGCCCCATCCCCTTCCAGCCCCTAAGTAGGCCCTCCCCTCCCTAAATCTGCTTCCGCACCACCTGGTCTTAGCCCCAAAGATGGGCCTTCTCTCTCCCAGATAAGTTGGTCCTCCCTCTGCCTTTCCTCTCAAGCCCCCAAAGAGCAAAGGCAACAGCAAGACCAGCGGGTTCTTGCAACACTGTGAGGGGCAGCCAGGGCGGCCCCAATAAAGCCCTTGAATACTTTGAGATTCCTTTCTTGCCTATGCGCACATCTCCATGGGCCTTGCCTGTGTGTGCACAAGTGGAACCTTTGCCAGGCTGCTCCAGTAGTCTCTGTGCCATCTCCAGCCCTGTTTCCAGGGGCAGAGAGGCAGGAAAGGAGAGGGCTGTAAACTCAGGTGAGACCTCTCAGCCCTGGGTCCCCTGCCTCATCACTGCCTAGGCCACATGAGAGGTCCCATGAGATGCTGTGACTATATTCGGTATAACCCTGTCTTTTCACTTACAGGACAGATCTTGCGCCCCAACCTCCAGTTTCCTAAATCGGCTTCTAGTCCAGGGGCTGGAGAAAAGAGTAGTGTGTTTGGCTAGGAAGGAGGATGAGAACCTCTACTCCATTTGGGAGCCCAGAGAATAGAGACATTGGCCCCAGAAGGCACTGCCAGAAACAAGTTTATTTACACAAGGACACACAGTGTAACGGGTTACAAAATACTTAACTGAAATCCATATCCAGGGAGACAAAGCAAGGAGTGGGTTTACATGAGAACCAGACCAGCCACAGGGAGAGAGTGGGTAAGGGGCCGGGAGCCTGGGGCTCAGCACAGAGAGGCCTAGTACACTGAGCCTGGCCCCATCCCCATCCCCCAGGAGGATCTAAAACAAACACACAAGCACACTATGAACCGATGGTGCTGGGACTCCTGCCCCTCCCCTGGCTCCCTCAATCCTGCTCAGGCCCCCATAGGATAATAAATATGTAAACAGATTGGTGGGGCCCTGGAGATAGAAGGAGAGAAAGTATATGTGGTACTGGGGAGGAGGAGGAAGGAAGAGTCAGCCCCCTAGGAGCCACTTCCCATCTTTGGTTTCCTACAGGCTGGATGGCATCCCCTGGAAGCCTTGTAGGCCCACAGCCCCTGGCAGGGCTCCTGGGAAAGAGAAGGGACAGCGCCCAGCCCCCTCCTGGTCTTAGCTCCCTTGGGCTGGTGGTCAGCAAAGGGAGCCCAGAAGGTATGGAAGCTCCAGCTGAGAGCCGACTCCTGGATCCCTGGGTTCTGGCCTTACCCCTTCTAGAACCTCCATTCTCACCATCCCCAGGATCCAAAACAAAAGGCCCCAGGAGGGAGGTGAGCCTCTGCCCCTTCTCCCCGCAGCATGCTGGATGGCTGGGAAAATCTGGTCCTGACAGCAGGGGGGCTCTCACCAGCCTGGAGCCCCTCTGCAGGGACCACCTTCTCCCCTTGCCCAGGCTGTGCCAGCAGAGGGGCAGGGAGGCCATCCGAGTAAGGTGGGGAGCAGACCTGGTTCTGTTACTCCTCCTGGCCCCTGAGAACCCAGGAAACCAGTCCTCTCCTTCCCCACACACTTTCACCCTCTCAGCCCCGGGGAAGGGGAAGTAGGCTGTGAGGAGTGTGAGGCAAGACAGCCCTCCTCACAGACTGCAGGCCACAGCTTGGGCACCAGCCTCCCATCAGTGCTGAGACCAAGAGGAAGGAGGAGGAGAGGG 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Task1_train_24659 | A variant was discovered on Chromosome 17, affecting G6PC3 (glucose-6-phosphatase catalytic subunit 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | GGTGTGCACCACCACTTCCAGCTAATTTTTTGTTTTTGTTGAATCTGGGTCTTGCTATGTTGCCCAGGCTGGTCATGAACTCCTGGCTTCAAGTGATCCTCCAGCTAAGGCCTCCCAAAGTACTGGGATTACAGTCATGAGCCACTGTACCTGGCCCCAGACTAGTTTTTAAAAATAGTGTTTCCACAGGCTGAGGGTTAGGAAAAAAAAAAGAAAAGAAATAGTGTGCTTTCTTTCTCCTGTTCTAAGGTAGAAAACCATGGCAAGGTATCCATGGATACCTTGAGAGCAGTGGACAGAATCGTAGTCCCTTTTTGACTTCACCCCTCAGGCCCTCCAGAGTACTCTGTGTCCTGCCCGCCTTGTACCCCCCCTGGCTGTGTGTGCATGTGGAAAGTCATCTTGCATCTGTTCTCTTCCAGGTTTCTTTTTGGAGACAGGCCCTTTTGGTGGGTCCATGAGTCTGGTTACTACAGCCAGGCTCCAGCCCAGGTTCACCAGTTCCCCTCTTCTTGTGAGACTGGTCCAGGTGGGAAGCCTCAAACATTCTCCCTTTCCCAATGTGGTTAGGGTTCGGGTGAACATTTCAGAGTACTTTTCAGCCTGGGTGGCCCAACCAAAGGACCAGCCTCTCAATTACTGGCGCAGAGAACAAAAGAACCCCAGGGAGACCAAGCTGAGTTATGGGAGGAGGGCACTCATGCTATGTACCAGCTGCCCACCTTGTATAGAGGACAGCCAAGAGACACAGATCAGGACAGAAACCTGAGCACAGTGACCTCAAGTGGCAGTAAAAAGGCCTCAGAGCAGAGCGAGTTATGAATCAGTGCTGGGGAAAAGCTCTTCTCAGCCAGGAAAGGCAGCTGTATTATTGAGGCATCACCAGGGGCCCCGGGGTTCTGCCTCCATCTTCTCACCACGAGCTTCTGGATTTGCTGGCAGGCAGCCCTTCTGGACACTGCATGATCACAGGAGCAGCCCTCTGGCCCATAATGACGGCCCTGTCTTCGCAGGTGGCCACTCGGGCCCGCAGGTATACCCTTGGCATTGCCCACCATTGGGAGCAGGGGTGATGGCACCCTGTACCTAATAGACACAGCAGCATGGCAGCCTGGGAGCTGGAGTTTTGGGGACCCTAGGTTGTGTGGTTCAACCATGGAGTACCTGGGTGCTGCAGGAGGCCAAGCTGTGTATGGACACGCTCTGAGCTCCTTGCCTCTCTTCTTTCTAGCCGCTGGGTAAGGGTGATGCCTAGCCTGGCTTATTGCACCTTCCTTTTGGCGGTTGGCTTGTCGCGAATCTTCATCTTAGCACATTTCCCTCACCAGGTGCTGGCTGGCCTAATAACTGGTGAGCAACTGGGGCAACGGGGTGGACTGAGAGGATGCCTTTGGCAGTGGGAGGATCAGTCTAGGATCTTCCCATCGCTCCCAGCTTCTGTAGAGCCCACCCCAGAGGCCCCCCGTTATGTCTCAGTTTATTCTCTTGCCAAGCTGCACTGCAGCTGGGGGTCGGGGTGGGGAGGGTCATATCCCCAGACTCCTTGAAGCTGTTGTCACTCCACTCTCCTAGGCGCTGTCCTGGGCTGGCTGATGACTCCCCGAGTGCCTATGGAGCGGGAGCTAAGCTTCTATGGGTTGACTGCACTGGCCCTCATGCTAGGCACCAGCCTCATCTATTGGACCCTCTTTACACTGGGCCTGGATCTTTCTTGGTAAGTCTCGCTTTGAAGCCTGGGCAGGCTGGGCCCTGTCCTATCTCGCCTGCACCTAGCCTGGTGTGTCTCTGGTTCATTATAGCTAAAAAAGGACACATTACCTATTCACATAGACCCTCACAGGCACAAAACAGAACATGGGAGTGGGCCCCAAGGGCAGATGGCCAAGAGCCAGTGGCCTTCTATGTTCCAGCCTCTCCTGGCAAGAACTCTTCTTCCCCACAGGTCCATCAGCCTAGCCTTCAAGTGGTGTGAGCGGCCTGAGTGGATACACGTGGATAGCCGGCCCTTTGCCTCCCTGAGCCGTGACTCAGGGGCTGCCCTGGGCCTGGGCATTGCCTTGCACTCTCCCTGCTATGCCCAGGTGCGTCGGGCACAGCTGGGAAATGGCCAGAAGATAGCCTGCCTTGTGCTGGCCATGGGGCTGCTGGGCCCCCTGGACTGGCTGGGCCACCCCCCTCAGATCAGCCTCTTCTACATTTTCAATTTCCTCAAGTACACCCTCTGGCCATGCCTAGTCCTGGCCCTCGTGCCCTGGGCAGTGCACATGTTCAGTGCCCAGGAAGCACCGCCCATCCACTCTTCCTGACTTCTTGTGTGCCTCCCTTTCCTTTCCCTCCCACAAAGCCAACACTCTGTGACCACCACACTCCAGGAGGCAGCCCCATCCCCTTCCAGCCCCTAAGTAGGCCCTCCCCTCCCTAAATCTGCTTCCGCACCACCTGGTCTTAGCCCCAAAGATGGGCCTTCTCTCTCCCAGATAAGTTGGTCCTCCCTCTGCCTTTCCTCTCAAGCCCCCAAAGAGCAAAGGCAACAGCAAGACCAGCGGGTTCTTGCAACACTGTGAGGGGCAGCCAGGGCGGCCCCAATAAAGCCCTTGAATACTTTGAGATTCCTTTCTTGCCTATGCGCACATCTCCATGGGCCTTGCCTGTGTGTGCACAAGTGGAACCTTTGCCAGGCTGCTCCAGTAGTCTCTGTGCCATCTCCAGCCCTGTTTCCAGGGGCAGAGAGGCAGGAAAGGAGAGGGCTGTAAACTCAGGTGAGACCTCTCAGCCCTGGGTCCCCTGCCTCATCACTGCCTAGGCCACATGAGAGGTCCCATGAGATGCTGTGACTATATTCGGTATAACCCTGTCTTTTCACTTACAGGACAGATCTTGCGCCCCAACCTCCAGTTTCCTAAATCGGCTTCTAGTCCAGGGGCTGGAGAAAAGAGTAGTGTGTTTGGCTAGGAAGGAGGATGAGAACCTCTACTCCATTTGGGAGCCCAGAGAATAGAGACATTGGCCCCAGAAGGCACTGCCAGAAACAAGTTTATTTACACAAGGACACACAGTGTAACGGGTTACAAAATACTTAACTGAAATCCATATCCAGGGAGACAAAGCAAGGAGTGGGTTTACATGAGAACCAGACCAGCCACAGGGAGAGAGTGGGTAAGGGGCCGGGAGCCTGGGGCTCAGCACAGAGAGGCCTAGTACACTGAGCCTGGCCCCATCCCCATCCCCCAGGAGGATCTAAAACAAACACACAAGCACACTATGAACCGATGGTGCTGGGACTCCTGCCCCTCCCCTGGCTCCCTCAATCCTGCTCAGGCCCCCATAGGATAATAAATATGTAAACAGATTGGTGGGGCCCTGGAGATAGAAGGAGAGAAAGTATATGTGGTACTGGGGAGGAGGAGGAAGGAAGAGTCAGCCCCCTAGGAGCCACTTCCCATCTTTGGTTTCCTACAGGCTGGATGGCATCCCCTGGAAGCCTTGTAGGCCCACAGCCCCTGGCAGGGCTCCTGGGAAAGAGAAGGGACAGCGCCCAGCCCCCTCCTGGTCTTAGCTCCCTTGGGCTGGTGGTCAGCAAAGGGAGCCCAGAAGGTATGGAAGCTCCAGCTGAGAGCCGACTCCTGGATCCCTGGGTTCTGGCCTTACCCCTTCTAGAACCTCCATTCTCACCATCCCCAGGATCCAAAACAAAAGGCCCCAGGAGGGAGGTGAGCCTCTGCCCCTTCTCCCCGCAGCATGCTGGATGGCTGGGAAAATCTGGTCCTGACAGCAGGGGGGCTCTCACCAGCCTGGAGCCCCTCTGCAGGGACCACCTTCTCCCCTTGCCCAGGCTGTGCCAGCAGAGGGGCAGGGAGGCCATCCGAGTAAGGTGGGGAGCAGACCTGGTTCTGTTACTCCTCCTGGCCCCTGAGAACCCAGGAAACCAGTCCTCTCCTTCCCCACACACTTTCACCCTCTCAGCCCCGGGGAAGGGGAAGTAGGCTGTGAGGAGTGTGAGGCAAGACAGCCCTCCTCACAGACTGCAGGCCACAGCTTGGGCACCAGCCTCCCATCAGTGCTGAGACCAAGAGGAAGGAGGAGGAGAGGGGTCTGC 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GGTGTGCACCACCACTTCCAGCTAATTTTTTGTTTTTGTTGAATCTGGGTCTTGCTATGTTGCCCAGGCTGGTCATGAACTCCTGGCTTCAAGTGATCCTCCAGCTAAGGCCTCCCAAAGTACTGGGATTACAGTCATGAGCCACTGTACCTGGCCCCAGACTAGTTTTTAAAAATAGTGTTTCCACAGGCTGAGGGTTAGGAAAAAAAAAAGAAAAGAAATAGTGTGCTTTCTTTCTCCTGTTCTAAGGTAGAAAACCATGGCAAGGTATCCATGGATACCTTGAGAGCAGTGGACAGAATCGTAGTCCCTTTTTGACTTCACCCCTCAGGCCCTCCAGAGTACTCTGTGTCCTGCCCGCCTTGTACCCCCCCTGGCTGTGTGTGCATGTGGAAAGTCATCTTGCATCTGTTCTCTTCCAGGTTTCTTTTTGGAGACAGGCCCTTTTGGTGGGTCCATGAGTCTGGTTACTACAGCCAGGCTCCAGCCCAGGTTCACCAGTTCCCCTCTTCTTGTGAGACTGGTCCAGGTGGGAAGCCTCAAACATTCTCCCTTTCCCAATGTGGTTAGGGTTCGGGTGAACATTTCAGAGTACTTTTCAGCCTGGGTGGCCCAACCAAAGGACCAGCCTCTCAATTACTGGCGCAGAGAACAAAAGAACCCCAGGGAGACCAAGCTGAGTTATGGGAGGAGGGCACTCATGCTATGTACCAGCTGCCCACCTTGTATAGAGGACAGCCAAGAGACACAGATCAGGACAGAAACCTGAGCACAGTGACCTCAAGTGGCAGTAAAAAGGCCTCAGAGCAGAGCGAGTTATGAATCAGTGCTGGGGAAAAGCTCTTCTCAGCCAGGAAAGGCAGCTGTATTATTGAGGCATCACCAGGGGCCCCGGGGTTCTGCCTCCATCTTCTCACCACGAGCTTCTGGATTTGCTGGCAGGCAGCCCTTCTGGACACTGCATGATCACAGGAGCAGCCCTCTGGCCCATAATGACGGCCCTGTCTTCGCAGGTGGCCACTCGGGCCCGCAGGTATACCCTTGGCATTGCCCACCATTGGGAGCAGGGGTGATGGCACCCTGTACCTAATAGACACAGCAGCATGGCAGCCTGGGAGCTGGAGTTTTGGGGACCCTAGGTTGTGTGGTTCAACCATGGAGTACCTGGGTGCTGCAGGAGGCCAAGCTGTGTATGGACACGCTCTGAGCTCCTTGCCTCTCTTCTTTCTAGCCGCTGGGTAAGGGTGATGCCTAGCCTGGCTTATTGCACCTTCCTTTTGGCGGTTGGCTTGTCGCGAATCTTCATCTTAGCACATTTCCCTCACCAGGTGCTGGCTGGCCTAATAACTGGTGAGCAACTGGGGCAACGGGGTGGACTGAGAGGATGCCTTTGGCAGTGGGAGGATCAGTCTAGGATCTTCCCATCGCTCCCAGCTTCTGTAGAGCCCACCCCAGAGGCCCCCCGTTATGTCTCAGTTTATTCTCTTGCCAAGCTGCACTGCAGCTGGGGGTCGGGGTGGGGAGGGTCATATCCCCAGACTCCTTGAAGCTGTTGTCACTCCACTCTCCTAGGCGCTGTCCTGGGCTGGCTGATGACTCCCCGAGTGCCTATGGAGCGGGAGCTAAGCTTCTATGGGTTGACTGCACTGGCCCTCATGCTAGGCACCAGCCTCATCTATTGGACCCTCTTTACACTGGGCCTGGATCTTTCTTGGTAAGTCTCGCTTTGAAGCCTGGGCAGGCTGGGCCCTGTCCTATCTCGCCTGCACCTAGCCTGGTGTGTCTCTGGTTCATTATAGCTAAAAAAGGACACATTACCTATTCACATAGACCCTCACAGGCACAAAACAGAACATGGGAGTGGGCCCCAAGGGCAGATGGCCAAGAGCCAGTGGCCTTCTATGTTCCAGCCTCTCCTGGCAAGAACTCTTCTTCCCCACAGGTCCATCAGCCTAGCCTTCAAGTGGTGTGAGCGGCCTGAGTGGATACACGTGGATAGCCGGCCCTTTGCCTCCCTGAGCCGTGACTCAGGGGCTGCCCTGGGCCTGCGCATTGCCTTGCACTCTCCCTGCTATGCCCAGGTGCGTCGGGCACAGCTGGGAAATGGCCAGAAGATAGCCTGCCTTGTGCTGGCCATGGGGCTGCTGGGCCCCCTGGACTGGCTGGGCCACCCCCCTCAGATCAGCCTCTTCTACATTTTCAATTTCCTCAAGTACACCCTCTGGCCATGCCTAGTCCTGGCCCTCGTGCCCTGGGCAGTGCACATGTTCAGTGCCCAGGAAGCACCGCCCATCCACTCTTCCTGACTTCTTGTGTGCCTCCCTTTCCTTTCCCTCCCACAAAGCCAACACTCTGTGACCACCACACTCCAGGAGGCAGCCCCATCCCCTTCCAGCCCCTAAGTAGGCCCTCCCCTCCCTAAATCTGCTTCCGCACCACCTGGTCTTAGCCCCAAAGATGGGCCTTCTCTCTCCCAGATAAGTTGGTCCTCCCTCTGCCTTTCCTCTCAAGCCCCCAAAGAGCAAAGGCAACAGCAAGACCAGCGGGTTCTTGCAACACTGTGAGGGGCAGCCAGGGCGGCCCCAATAAAGCCCTTGAATACTTTGAGATTCCTTTCTTGCCTATGCGCACATCTCCATGGGCCTTGCCTGTGTGTGCACAAGTGGAACCTTTGCCAGGCTGCTCCAGTAGTCTCTGTGCCATCTCCAGCCCTGTTTCCAGGGGCAGAGAGGCAGGAAAGGAGAGGGCTGTAAACTCAGGTGAGACCTCTCAGCCCTGGGTCCCCTGCCTCATCACTGCCTAGGCCACATGAGAGGTCCCATGAGATGCTGTGACTATATTCGGTATAACCCTGTCTTTTCACTTACAGGACAGATCTTGCGCCCCAACCTCCAGTTTCCTAAATCGGCTTCTAGTCCAGGGGCTGGAGAAAAGAGTAGTGTGTTTGGCTAGGAAGGAGGATGAGAACCTCTACTCCATTTGGGAGCCCAGAGAATAGAGACATTGGCCCCAGAAGGCACTGCCAGAAACAAGTTTATTTACACAAGGACACACAGTGTAACGGGTTACAAAATACTTAACTGAAATCCATATCCAGGGAGACAAAGCAAGGAGTGGGTTTACATGAGAACCAGACCAGCCACAGGGAGAGAGTGGGTAAGGGGCCGGGAGCCTGGGGCTCAGCACAGAGAGGCCTAGTACACTGAGCCTGGCCCCATCCCCATCCCCCAGGAGGATCTAAAACAAACACACAAGCACACTATGAACCGATGGTGCTGGGACTCCTGCCCCTCCCCTGGCTCCCTCAATCCTGCTCAGGCCCCCATAGGATAATAAATATGTAAACAGATTGGTGGGGCCCTGGAGATAGAAGGAGAGAAAGTATATGTGGTACTGGGGAGGAGGAGGAAGGAAGAGTCAGCCCCCTAGGAGCCACTTCCCATCTTTGGTTTCCTACAGGCTGGATGGCATCCCCTGGAAGCCTTGTAGGCCCACAGCCCCTGGCAGGGCTCCTGGGAAAGAGAAGGGACAGCGCCCAGCCCCCTCCTGGTCTTAGCTCCCTTGGGCTGGTGGTCAGCAAAGGGAGCCCAGAAGGTATGGAAGCTCCAGCTGAGAGCCGACTCCTGGATCCCTGGGTTCTGGCCTTACCCCTTCTAGAACCTCCATTCTCACCATCCCCAGGATCCAAAACAAAAGGCCCCAGGAGGGAGGTGAGCCTCTGCCCCTTCTCCCCGCAGCATGCTGGATGGCTGGGAAAATCTGGTCCTGACAGCAGGGGGGCTCTCACCAGCCTGGAGCCCCTCTGCAGGGACCACCTTCTCCCCTTGCCCAGGCTGTGCCAGCAGAGGGGCAGGGAGGCCATCCGAGTAAGGTGGGGAGCAGACCTGGTTCTGTTACTCCTCCTGGCCCCTGAGAACCCAGGAAACCAGTCCTCTCCTTCCCCACACACTTTCACCCTCTCAGCCCCGGGGAAGGGGAAGTAGGCTGTGAGGAGTGTGAGGCAAGACAGCCCTCCTCACAGACTGCAGGCCACAGCTTGGGCACCAGCCTCCCATCAGTGCTGAGACCAAGAGGAAGGAGGAGGAGAGGGGTCTGC 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Task1_train_24660 | This alteration in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hereditary spherocytosis type 4 | AAATAAATTTGCCCATGTTCTTGGAGAGCCTGCTGTCTCCTACCCCAATTGGTCAGATCTGGGTTCTCCCCAAGATTCAGTTTAGATGGAGTTGAGGATAATGGCTCTCAAATGAGGGGCCTGAAGTTGTGTGTGAAGCCAAACTATGTTGAAAACTCTTAGAAAATACGCAATTAATAAATTACAAACCCCCTCACTCTCCCGCCCCTACCTTCCCACCCTCCCCCACTCCCTATCCAAATGTAGAATCAACTGTACCTTGCCCCCCACCCCCACCCCAGGGCAGGGCTTGTCTCAGTCCCCTCGGAGTCCACTGATTCCGGGGCCCTCAGTAAATGTTTGTGGAATGAATGAATGAGTGAACTAATGAGTGTTTGGAGGGAGGAACCAAACACTTAGGAGGCCTGAGTCCCAGGCCCAATCCCTGGATCATCCTTGCCTGTACCTTGTCCTCACCAGGACGCCTCTCTCTGGGCCCAGAGAAGAGGGTCTCAAGGTAGGGGCTGGGAGCAGAGTGGGGAAGGGAGGAGTCACAGGGGAAGGGAAAGTGGACGCATGACTGACAGAGGACAGAGCTCGGACCTTGAAATCAGAAGGCCTGGTTCAAATCCCAGCTGCACGGCTCAGTTCAAATCCCAGCTATGTGACCTTGGGTACGTTCAAAGACAAATGATGACTGCTATAGAACAGTCCCTGTGGAGTTTACAAAGCCCTATTTTACATGTATCTTTGGTCCTCAGTAACCATCCTGTAATGTGGGTATTATCATCAATATACCCATTTTACAGAAGAGGAAATATAGGCTGGAAAGGTCAAGGGACTTGCCCAAGGTCACACAGCAAGCACCCCACCCGCTCACCCACCTCCTGCCTTTGCTTCTACCCCTGCCTGTGCTGGGAAGAGGGAGGGCTCAGATCTAAGTCTTCCAGCACGGGATCCCCAGTGAAAGTGTGGCAACAGGAGGGACTGTGCAACAAACCCCCTAATGTGGGCCCCATCGGCCATCCCCAGCCAGAAAAGCCAGGCTACCCTTTGTGGAAGGTCTCCTGGACACGCCTTCCTTCCCCACCCACAGCCCTGGGGCCTCAGCTGCTGCTCCAGGAGGATCCTGGAGTCCATGAGGTGCCCATGAACTTCTGCTTTTCCTTGGAAGGTGGGGATGTGGAATGGTGGGGGAGGGTCTAGGGCCTGGGCCCGCCCCTCACACAGGCATGGCCACTTCGTCGTATTCATCCCGACCTTCCTCCTCATCAAAGGTTGCCTTGGCATCATCAGCATCCAGCTGGAGGGGAGGGACAGGAGAGAGACAGGGTGAGAGACCCTGGGGCCAGAAGAGCCCTCCCCGGGCACGAAAGGCACCTCTGGAGTTAGGAGAGGGTCTGGCTGTCTTGAACCTTGGACCAGTCCTGTTTTATCTCCCCAGCAGCTAGGACTGGCCTAAATGAGTCGTTGTCAAAGTGAGAGGCAACCCCGGGGATGTGGACCCTGGCAGGGGAGGGCCTGCAGAGGGTGAGCAGGGGACCTTTTCACCAAGGCGGCCCCACAGTGACCTGAGTCACCCTGTGGAAGAATCCTATTAGAGGAGTGACTCTGTCCCAAATGACTCGGAAGACGGCAGGACTTGCTGCTTAGGGGTCCAGCTCACTCACAGCACACCCTGTCTGCCTCTTGACGCTCTCCCCAGTCGTGCCATCATTTCCCCCTTTACAGGTGAGCAAAATGAAGACACAGAGAAACAAGGCCCCGTGCTCCAGATCATATGCTAGGACACAGCAGGCCAGAACCTGGACACCAGCCCTAGCCCCAGACTTTACCCATGACTCTGTCCTGCCTGCCCTAGTTCTGAGACGCGCCCCTCGCATGCTCCCAGCTCTTGTGCCCCAGGCCCAGGCAGCCACTCACACACTGAAGCTCCACGTTCCTGAAGATGAGCGGCAGCAGGACGCGCCGCAGCGGCACAGTGAGGATGAGGACGAAGGGCAGGGCCAGGGAGGCCGGCGTGGACTTCACCACCCACAGCACTGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTC 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AAATAAATTTGCCCATGTTCTTGGAGAGCCTGCTGTCTCCTACCCCAATTGGTCAGATCTGGGTTCTCCCCAAGATTCAGTTTAGATGGAGTTGAGGATAATGGCTCTCAAATGAGGGGCCTGAAGTTGTGTGTGAAGCCAAACTATGTTGAAAACTCTTAGAAAATACGCAATTAATAAATTACAAACCCCCTCACTCTCCCGCCCCTACCTTCCCACCCTCCCCCACTCCCTATCCAAATGTAGAATCAACTGTACCTTGCCCCCCACCCCCACCCCAGGGCAGGGCTTGTCTCAGTCCCCTCGGAGTCCACTGATTCCGGGGCCCTCAGTAAATGTTTGTGGAATGAATGAATGAGTGAACTAATGAGTGTTTGGAGGGAGGAACCAAACACTTAGGAGGCCTGAGTCCCAGGCCCAATCCCTGGATCATCCTTGCCTGTACCTTGTCCTCACCAGGACGCCTCTCTCTGGGCCCAGAGAAGAGGGTCTCAAGGTAGGGGCTGGGAGCAGAGTGGGGAAGGGAGGAGTCACAGGGGAAGGGAAAGTGGACGCATGACTGACAGAGGACAGAGCTCGGACCTTGAAATCAGAAGGCCTGGTTCAAATCCCAGCTGCACGGCTCAGTTCAAATCCCAGCTATGTGACCTTGGGTACGTTCAAAGACAAATGATGACTGCTATAGAACAGTCCCTGTGGAGTTTACAAAGCCCTATTTTACATGTATCTTTGGTCCTCAGTAACCATCCTGTAATGTGGGTATTATCATCAATATACCCATTTTACAGAAGAGGAAATATAGGCTGGAAAGGTCAAGGGACTTGCCCAAGGTCACACAGCAAGCACCCCACCCGCTCACCCACCTCCTGCCTTTGCTTCTACCCCTGCCTGTGCTGGGAAGAGGGAGGGCTCAGATCTAAGTCTTCCAGCACGGGATCCCCAGTGAAAGTGTGGCAACAGGAGGGACTGTGCAACAAACCCCCTAATGTGGGCCCCATCGGCCATCCCCAGCCAGAAAAGCCAGGCTACCCTTTGTGGAAGGTCTCCTGGACACGCCTTCCTTCCCCACCCACAGCCCTGGGGCCTCAGCTGCTGCTCCAGGAGGATCCTGGAGTCCATGAGGTGCCCATGAACTTCTGCTTTTCCTTGGAAGGTGGGGATGTGGAATGGTGGGGGAGGGTCTAGGGCCTGGGCCCGCCCCTCACACAGGCATGGCCACTTCGTCGTATTCATCCCGACCTTCCTCCTCATCAAAGGTTGCCTTGGCATCATCAGCATCCAGCTGGAGGGGAGGGACAGGAGAGAGACAGGGTGAGAGACCCTGGGGCCAGAAGAGCCCTCCCCGGGCACGAAAGGCACCTCTGGAGTTAGGAGAGGGTCTGGCTGTCTTGAACCTTGGACCAGTCCTGTTTTATCTCCCCAGCAGCTAGGACTGGCCTAAATGAGTCGTTGTCAAAGTGAGAGGCAACCCCGGGGATGTGGACCCTGGCAGGGGAGGGCCTGCAGAGGGTGAGCAGGGGACCTTTTCACCAAGGCGGCCCCACAGTGACCTGAGTCACCCTGTGGAAGAATCCTATTAGAGGAGTGACTCTGTCCCAAATGACTCGGAAGACGGCAGGACTTGCTGCTTAGGGGTCCAGCTCACTCACAGCACACCCTGTCTGCCTCTTGACGCTCTCCCCAGTCGTGCCATCATTTCCCCCTTTACAGGTGAGCAAAATGAAGACACAGAGAAACAAGGCCCCGTGCTCCAGATCATATGCTAGGACACAGCAGGCCAGAACCTGGACACCAGCCCTAGCCCCAGACTTTACCCATGACTCTGTCCTGCCTGCCCTAGTTCTGAGACGCGCCCCTCGCATGCTCCCAGCTCTTGTGCCCCAGGCCCAGGCAGCCACTCACACACTGAAGCTCCACGTTCCTGAAGATGAGCGGCAGCAGGACGCGCCGCAGCGGCACAGTGAGGATGAGGACGAAGGGCAGGGCCAGGGAGGCCGGCGTGGACTTCACCACCCACAGCACTGCCAGGCAGATGATCTGGATGCCCGCGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTC 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Task1_train_24661 | This sequence change occurs on Chromosome 17, altering SLC4A1 (solute carrier family 4 member 1 (Diego blood group)). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | TTGCCCATGTTCTTGGAGAGCCTGCTGTCTCCTACCCCAATTGGTCAGATCTGGGTTCTCCCCAAGATTCAGTTTAGATGGAGTTGAGGATAATGGCTCTCAAATGAGGGGCCTGAAGTTGTGTGTGAAGCCAAACTATGTTGAAAACTCTTAGAAAATACGCAATTAATAAATTACAAACCCCCTCACTCTCCCGCCCCTACCTTCCCACCCTCCCCCACTCCCTATCCAAATGTAGAATCAACTGTACCTTGCCCCCCACCCCCACCCCAGGGCAGGGCTTGTCTCAGTCCCCTCGGAGTCCACTGATTCCGGGGCCCTCAGTAAATGTTTGTGGAATGAATGAATGAGTGAACTAATGAGTGTTTGGAGGGAGGAACCAAACACTTAGGAGGCCTGAGTCCCAGGCCCAATCCCTGGATCATCCTTGCCTGTACCTTGTCCTCACCAGGACGCCTCTCTCTGGGCCCAGAGAAGAGGGTCTCAAGGTAGGGGCTGGGAGCAGAGTGGGGAAGGGAGGAGTCACAGGGGAAGGGAAAGTGGACGCATGACTGACAGAGGACAGAGCTCGGACCTTGAAATCAGAAGGCCTGGTTCAAATCCCAGCTGCACGGCTCAGTTCAAATCCCAGCTATGTGACCTTGGGTACGTTCAAAGACAAATGATGACTGCTATAGAACAGTCCCTGTGGAGTTTACAAAGCCCTATTTTACATGTATCTTTGGTCCTCAGTAACCATCCTGTAATGTGGGTATTATCATCAATATACCCATTTTACAGAAGAGGAAATATAGGCTGGAAAGGTCAAGGGACTTGCCCAAGGTCACACAGCAAGCACCCCACCCGCTCACCCACCTCCTGCCTTTGCTTCTACCCCTGCCTGTGCTGGGAAGAGGGAGGGCTCAGATCTAAGTCTTCCAGCACGGGATCCCCAGTGAAAGTGTGGCAACAGGAGGGACTGTGCAACAAACCCCCTAATGTGGGCCCCATCGGCCATCCCCAGCCAGAAAAGCCAGGCTACCCTTTGTGGAAGGTCTCCTGGACACGCCTTCCTTCCCCACCCACAGCCCTGGGGCCTCAGCTGCTGCTCCAGGAGGATCCTGGAGTCCATGAGGTGCCCATGAACTTCTGCTTTTCCTTGGAAGGTGGGGATGTGGAATGGTGGGGGAGGGTCTAGGGCCTGGGCCCGCCCCTCACACAGGCATGGCCACTTCGTCGTATTCATCCCGACCTTCCTCCTCATCAAAGGTTGCCTTGGCATCATCAGCATCCAGCTGGAGGGGAGGGACAGGAGAGAGACAGGGTGAGAGACCCTGGGGCCAGAAGAGCCCTCCCCGGGCACGAAAGGCACCTCTGGAGTTAGGAGAGGGTCTGGCTGTCTTGAACCTTGGACCAGTCCTGTTTTATCTCCCCAGCAGCTAGGACTGGCCTAAATGAGTCGTTGTCAAAGTGAGAGGCAACCCCGGGGATGTGGACCCTGGCAGGGGAGGGCCTGCAGAGGGTGAGCAGGGGACCTTTTCACCAAGGCGGCCCCACAGTGACCTGAGTCACCCTGTGGAAGAATCCTATTAGAGGAGTGACTCTGTCCCAAATGACTCGGAAGACGGCAGGACTTGCTGCTTAGGGGTCCAGCTCACTCACAGCACACCCTGTCTGCCTCTTGACGCTCTCCCCAGTCGTGCCATCATTTCCCCCTTTACAGGTGAGCAAAATGAAGACACAGAGAAACAAGGCCCCGTGCTCCAGATCATATGCTAGGACACAGCAGGCCAGAACCTGGACACCAGCCCTAGCCCCAGACTTTACCCATGACTCTGTCCTGCCTGCCCTAGTTCTGAGACGCGCCCCTCGCATGCTCCCAGCTCTTGTGCCCCAGGCCCAGGCAGCCACTCACACACTGAAGCTCCACGTTCCTGAAGATGAGCGGCAGCAGGACGCGCCGCAGCGGCACAGTGAGGATGAGGACGAAGGGCAGGGCCAGGGAGGCCGGCGTGGACTTCACCACCCACAGCACTGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGC 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TTGCCCATGTTCTTGGAGAGCCTGCTGTCTCCTACCCCAATTGGTCAGATCTGGGTTCTCCCCAAGATTCAGTTTAGATGGAGTTGAGGATAATGGCTCTCAAATGAGGGGCCTGAAGTTGTGTGTGAAGCCAAACTATGTTGAAAACTCTTAGAAAATACGCAATTAATAAATTACAAACCCCCTCACTCTCCCGCCCCTACCTTCCCACCCTCCCCCACTCCCTATCCAAATGTAGAATCAACTGTACCTTGCCCCCCACCCCCACCCCAGGGCAGGGCTTGTCTCAGTCCCCTCGGAGTCCACTGATTCCGGGGCCCTCAGTAAATGTTTGTGGAATGAATGAATGAGTGAACTAATGAGTGTTTGGAGGGAGGAACCAAACACTTAGGAGGCCTGAGTCCCAGGCCCAATCCCTGGATCATCCTTGCCTGTACCTTGTCCTCACCAGGACGCCTCTCTCTGGGCCCAGAGAAGAGGGTCTCAAGGTAGGGGCTGGGAGCAGAGTGGGGAAGGGAGGAGTCACAGGGGAAGGGAAAGTGGACGCATGACTGACAGAGGACAGAGCTCGGACCTTGAAATCAGAAGGCCTGGTTCAAATCCCAGCTGCACGGCTCAGTTCAAATCCCAGCTATGTGACCTTGGGTACGTTCAAAGACAAATGATGACTGCTATAGAACAGTCCCTGTGGAGTTTACAAAGCCCTATTTTACATGTATCTTTGGTCCTCAGTAACCATCCTGTAATGTGGGTATTATCATCAATATACCCATTTTACAGAAGAGGAAATATAGGCTGGAAAGGTCAAGGGACTTGCCCAAGGTCACACAGCAAGCACCCCACCCGCTCACCCACCTCCTGCCTTTGCTTCTACCCCTGCCTGTGCTGGGAAGAGGGAGGGCTCAGATCTAAGTCTTCCAGCACGGGATCCCCAGTGAAAGTGTGGCAACAGGAGGGACTGTGCAACAAACCCCCTAATGTGGGCCCCATCGGCCATCCCCAGCCAGAAAAGCCAGGCTACCCTTTGTGGAAGGTCTCCTGGACACGCCTTCCTTCCCCACCCACAGCCCTGGGGCCTCAGCTGCTGCTCCAGGAGGATCCTGGAGTCCATGAGGTGCCCATGAACTTCTGCTTTTCCTTGGAAGGTGGGGATGTGGAATGGTGGGGGAGGGTCTAGGGCCTGGGCCCGCCCCTCACACAGGCATGGCCACTTCGTCGTATTCATCCCGACCTTCCTCCTCATCAAAGGTTGCCTTGGCATCATCAGCATCCAGCTGGAGGGGAGGGACAGGAGAGAGACAGGGTGAGAGACCCTGGGGCCAGAAGAGCCCTCCCCGGGCACGAAAGGCACCTCTGGAGTTAGGAGAGGGTCTGGCTGTCTTGAACCTTGGACCAGTCCTGTTTTATCTCCCCAGCAGCTAGGACTGGCCTAAATGAGTCGTTGTCAAAGTGAGAGGCAACCCCGGGGATGTGGACCCTGGCAGGGGAGGGCCTGCAGAGGGTGAGCAGGGGACCTTTTCACCAAGGCGGCCCCACAGTGACCTGAGTCACCCTGTGGAAGAATCCTATTAGAGGAGTGACTCTGTCCCAAATGACTCGGAAGACGGCAGGACTTGCTGCTTAGGGGTCCAGCTCACTCACAGCACACCCTGTCTGCCTCTTGACGCTCTCCCCAGTCGTGCCATCATTTCCCCCTTTACAGGTGAGCAAAATGAAGACACAGAGAAACAAGGCCCCGTGCTCCAGATCATATGCTAGGACACAGCAGGCCAGAACCTGGACACCAGCCCTAGCCCCAGACTTTACCCATGACTCTGTCCTGCCTGCCCTAGTTCTGAGACGCGCCCCTCGCATGCTCCCAGCTCTTGTGCCCCAGGCCCAGGCAGCCACTCACACACTGAAGCTCCACGTTCCTGAAGATGAGCGGCAGCAGGACGCGCCGCAGCGGCACAGTGAGGATGAGGACGAAGGGCAGGGCCAGGGAGGCCGGCGTGGACTTCACCACCCACAGCACTGCCAGGCAGATGATCTGGATGCCCGTGAATAAGGGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGC 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Task1_train_24662 | The variant affects gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Renal tubular acidosis, distal, with normal red cell morphology | CAGGGCAGGGCTTGTCTCAGTCCCCTCGGAGTCCACTGATTCCGGGGCCCTCAGTAAATGTTTGTGGAATGAATGAATGAGTGAACTAATGAGTGTTTGGAGGGAGGAACCAAACACTTAGGAGGCCTGAGTCCCAGGCCCAATCCCTGGATCATCCTTGCCTGTACCTTGTCCTCACCAGGACGCCTCTCTCTGGGCCCAGAGAAGAGGGTCTCAAGGTAGGGGCTGGGAGCAGAGTGGGGAAGGGAGGAGTCACAGGGGAAGGGAAAGTGGACGCATGACTGACAGAGGACAGAGCTCGGACCTTGAAATCAGAAGGCCTGGTTCAAATCCCAGCTGCACGGCTCAGTTCAAATCCCAGCTATGTGACCTTGGGTACGTTCAAAGACAAATGATGACTGCTATAGAACAGTCCCTGTGGAGTTTACAAAGCCCTATTTTACATGTATCTTTGGTCCTCAGTAACCATCCTGTAATGTGGGTATTATCATCAATATACCCATTTTACAGAAGAGGAAATATAGGCTGGAAAGGTCAAGGGACTTGCCCAAGGTCACACAGCAAGCACCCCACCCGCTCACCCACCTCCTGCCTTTGCTTCTACCCCTGCCTGTGCTGGGAAGAGGGAGGGCTCAGATCTAAGTCTTCCAGCACGGGATCCCCAGTGAAAGTGTGGCAACAGGAGGGACTGTGCAACAAACCCCCTAATGTGGGCCCCATCGGCCATCCCCAGCCAGAAAAGCCAGGCTACCCTTTGTGGAAGGTCTCCTGGACACGCCTTCCTTCCCCACCCACAGCCCTGGGGCCTCAGCTGCTGCTCCAGGAGGATCCTGGAGTCCATGAGGTGCCCATGAACTTCTGCTTTTCCTTGGAAGGTGGGGATGTGGAATGGTGGGGGAGGGTCTAGGGCCTGGGCCCGCCCCTCACACAGGCATGGCCACTTCGTCGTATTCATCCCGACCTTCCTCCTCATCAAAGGTTGCCTTGGCATCATCAGCATCCAGCTGGAGGGGAGGGACAGGAGAGAGACAGGGTGAGAGACCCTGGGGCCAGAAGAGCCCTCCCCGGGCACGAAAGGCACCTCTGGAGTTAGGAGAGGGTCTGGCTGTCTTGAACCTTGGACCAGTCCTGTTTTATCTCCCCAGCAGCTAGGACTGGCCTAAATGAGTCGTTGTCAAAGTGAGAGGCAACCCCGGGGATGTGGACCCTGGCAGGGGAGGGCCTGCAGAGGGTGAGCAGGGGACCTTTTCACCAAGGCGGCCCCACAGTGACCTGAGTCACCCTGTGGAAGAATCCTATTAGAGGAGTGACTCTGTCCCAAATGACTCGGAAGACGGCAGGACTTGCTGCTTAGGGGTCCAGCTCACTCACAGCACACCCTGTCTGCCTCTTGACGCTCTCCCCAGTCGTGCCATCATTTCCCCCTTTACAGGTGAGCAAAATGAAGACACAGAGAAACAAGGCCCCGTGCTCCAGATCATATGCTAGGACACAGCAGGCCAGAACCTGGACACCAGCCCTAGCCCCAGACTTTACCCATGACTCTGTCCTGCCTGCCCTAGTTCTGAGACGCGCCCCTCGCATGCTCCCAGCTCTTGTGCCCCAGGCCCAGGCAGCCACTCACACACTGAAGCTCCACGTTCCTGAAGATGAGCGGCAGCAGGACGCGCCGCAGCGGCACAGTGAGGATGAGGACGAAGGGCAGGGCCAGGGAGGCCGGCGTGGACTTCACCACCCACAGCACTGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCC 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CAGGGCAGGGCTTGTCTCAGTCCCCTCGGAGTCCACTGATTCCGGGGCCCTCAGTAAATGTTTGTGGAATGAATGAATGAGTGAACTAATGAGTGTTTGGAGGGAGGAACCAAACACTTAGGAGGCCTGAGTCCCAGGCCCAATCCCTGGATCATCCTTGCCTGTACCTTGTCCTCACCAGGACGCCTCTCTCTGGGCCCAGAGAAGAGGGTCTCAAGGTAGGGGCTGGGAGCAGAGTGGGGAAGGGAGGAGTCACAGGGGAAGGGAAAGTGGACGCATGACTGACAGAGGACAGAGCTCGGACCTTGAAATCAGAAGGCCTGGTTCAAATCCCAGCTGCACGGCTCAGTTCAAATCCCAGCTATGTGACCTTGGGTACGTTCAAAGACAAATGATGACTGCTATAGAACAGTCCCTGTGGAGTTTACAAAGCCCTATTTTACATGTATCTTTGGTCCTCAGTAACCATCCTGTAATGTGGGTATTATCATCAATATACCCATTTTACAGAAGAGGAAATATAGGCTGGAAAGGTCAAGGGACTTGCCCAAGGTCACACAGCAAGCACCCCACCCGCTCACCCACCTCCTGCCTTTGCTTCTACCCCTGCCTGTGCTGGGAAGAGGGAGGGCTCAGATCTAAGTCTTCCAGCACGGGATCCCCAGTGAAAGTGTGGCAACAGGAGGGACTGTGCAACAAACCCCCTAATGTGGGCCCCATCGGCCATCCCCAGCCAGAAAAGCCAGGCTACCCTTTGTGGAAGGTCTCCTGGACACGCCTTCCTTCCCCACCCACAGCCCTGGGGCCTCAGCTGCTGCTCCAGGAGGATCCTGGAGTCCATGAGGTGCCCATGAACTTCTGCTTTTCCTTGGAAGGTGGGGATGTGGAATGGTGGGGGAGGGTCTAGGGCCTGGGCCCGCCCCTCACACAGGCATGGCCACTTCGTCGTATTCATCCCGACCTTCCTCCTCATCAAAGGTTGCCTTGGCATCATCAGCATCCAGCTGGAGGGGAGGGACAGGAGAGAGACAGGGTGAGAGACCCTGGGGCCAGAAGAGCCCTCCCCGGGCACGAAAGGCACCTCTGGAGTTAGGAGAGGGTCTGGCTGTCTTGAACCTTGGACCAGTCCTGTTTTATCTCCCCAGCAGCTAGGACTGGCCTAAATGAGTCGTTGTCAAAGTGAGAGGCAACCCCGGGGATGTGGACCCTGGCAGGGGAGGGCCTGCAGAGGGTGAGCAGGGGACCTTTTCACCAAGGCGGCCCCACAGTGACCTGAGTCACCCTGTGGAAGAATCCTATTAGAGGAGTGACTCTGTCCCAAATGACTCGGAAGACGGCAGGACTTGCTGCTTAGGGGTCCAGCTCACTCACAGCACACCCTGTCTGCCTCTTGACGCTCTCCCCAGTCGTGCCATCATTTCCCCCTTTACAGGTGAGCAAAATGAAGACACAGAGAAACAAGGCCCCGTGCTCCAGATCATATGCTAGGACACAGCAGGCCAGAACCTGGACACCAGCCCTAGCCCCAGACTTTACCCATGACTCTGTCCTGCCTGCCCTAGTTCTGAGACGCGCCCCTCGCATGCTCCCAGCTCTTGTGCCCCAGGCCCAGGCAGCCACTCACACACTGAAGCTCCACGTTCCTGAAGATGAGCGGCAGCAGGACGCGCCGCAGCGGCACAGTGAGGATGAGGACGAAGGGCAGGGCCAGGGAGGCCGGCGTGGACTTCACCACCCACAGCACTGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGGCAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCC 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Task1_train_24663 | This mutation is located in gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hereditary spherocytosis type 4 | CAGGGCTTGTCTCAGTCCCCTCGGAGTCCACTGATTCCGGGGCCCTCAGTAAATGTTTGTGGAATGAATGAATGAGTGAACTAATGAGTGTTTGGAGGGAGGAACCAAACACTTAGGAGGCCTGAGTCCCAGGCCCAATCCCTGGATCATCCTTGCCTGTACCTTGTCCTCACCAGGACGCCTCTCTCTGGGCCCAGAGAAGAGGGTCTCAAGGTAGGGGCTGGGAGCAGAGTGGGGAAGGGAGGAGTCACAGGGGAAGGGAAAGTGGACGCATGACTGACAGAGGACAGAGCTCGGACCTTGAAATCAGAAGGCCTGGTTCAAATCCCAGCTGCACGGCTCAGTTCAAATCCCAGCTATGTGACCTTGGGTACGTTCAAAGACAAATGATGACTGCTATAGAACAGTCCCTGTGGAGTTTACAAAGCCCTATTTTACATGTATCTTTGGTCCTCAGTAACCATCCTGTAATGTGGGTATTATCATCAATATACCCATTTTACAGAAGAGGAAATATAGGCTGGAAAGGTCAAGGGACTTGCCCAAGGTCACACAGCAAGCACCCCACCCGCTCACCCACCTCCTGCCTTTGCTTCTACCCCTGCCTGTGCTGGGAAGAGGGAGGGCTCAGATCTAAGTCTTCCAGCACGGGATCCCCAGTGAAAGTGTGGCAACAGGAGGGACTGTGCAACAAACCCCCTAATGTGGGCCCCATCGGCCATCCCCAGCCAGAAAAGCCAGGCTACCCTTTGTGGAAGGTCTCCTGGACACGCCTTCCTTCCCCACCCACAGCCCTGGGGCCTCAGCTGCTGCTCCAGGAGGATCCTGGAGTCCATGAGGTGCCCATGAACTTCTGCTTTTCCTTGGAAGGTGGGGATGTGGAATGGTGGGGGAGGGTCTAGGGCCTGGGCCCGCCCCTCACACAGGCATGGCCACTTCGTCGTATTCATCCCGACCTTCCTCCTCATCAAAGGTTGCCTTGGCATCATCAGCATCCAGCTGGAGGGGAGGGACAGGAGAGAGACAGGGTGAGAGACCCTGGGGCCAGAAGAGCCCTCCCCGGGCACGAAAGGCACCTCTGGAGTTAGGAGAGGGTCTGGCTGTCTTGAACCTTGGACCAGTCCTGTTTTATCTCCCCAGCAGCTAGGACTGGCCTAAATGAGTCGTTGTCAAAGTGAGAGGCAACCCCGGGGATGTGGACCCTGGCAGGGGAGGGCCTGCAGAGGGTGAGCAGGGGACCTTTTCACCAAGGCGGCCCCACAGTGACCTGAGTCACCCTGTGGAAGAATCCTATTAGAGGAGTGACTCTGTCCCAAATGACTCGGAAGACGGCAGGACTTGCTGCTTAGGGGTCCAGCTCACTCACAGCACACCCTGTCTGCCTCTTGACGCTCTCCCCAGTCGTGCCATCATTTCCCCCTTTACAGGTGAGCAAAATGAAGACACAGAGAAACAAGGCCCCGTGCTCCAGATCATATGCTAGGACACAGCAGGCCAGAACCTGGACACCAGCCCTAGCCCCAGACTTTACCCATGACTCTGTCCTGCCTGCCCTAGTTCTGAGACGCGCCCCTCGCATGCTCCCAGCTCTTGTGCCCCAGGCCCAGGCAGCCACTCACACACTGAAGCTCCACGTTCCTGAAGATGAGCGGCAGCAGGACGCGCCGCAGCGGCACAGTGAGGATGAGGACGAAGGGCAGGGCCAGGGAGGCCGGCGTGGACTTCACCACCCACAGCACTGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGAT 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CAGGGCTTGTCTCAGTCCCCTCGGAGTCCACTGATTCCGGGGCCCTCAGTAAATGTTTGTGGAATGAATGAATGAGTGAACTAATGAGTGTTTGGAGGGAGGAACCAAACACTTAGGAGGCCTGAGTCCCAGGCCCAATCCCTGGATCATCCTTGCCTGTACCTTGTCCTCACCAGGACGCCTCTCTCTGGGCCCAGAGAAGAGGGTCTCAAGGTAGGGGCTGGGAGCAGAGTGGGGAAGGGAGGAGTCACAGGGGAAGGGAAAGTGGACGCATGACTGACAGAGGACAGAGCTCGGACCTTGAAATCAGAAGGCCTGGTTCAAATCCCAGCTGCACGGCTCAGTTCAAATCCCAGCTATGTGACCTTGGGTACGTTCAAAGACAAATGATGACTGCTATAGAACAGTCCCTGTGGAGTTTACAAAGCCCTATTTTACATGTATCTTTGGTCCTCAGTAACCATCCTGTAATGTGGGTATTATCATCAATATACCCATTTTACAGAAGAGGAAATATAGGCTGGAAAGGTCAAGGGACTTGCCCAAGGTCACACAGCAAGCACCCCACCCGCTCACCCACCTCCTGCCTTTGCTTCTACCCCTGCCTGTGCTGGGAAGAGGGAGGGCTCAGATCTAAGTCTTCCAGCACGGGATCCCCAGTGAAAGTGTGGCAACAGGAGGGACTGTGCAACAAACCCCCTAATGTGGGCCCCATCGGCCATCCCCAGCCAGAAAAGCCAGGCTACCCTTTGTGGAAGGTCTCCTGGACACGCCTTCCTTCCCCACCCACAGCCCTGGGGCCTCAGCTGCTGCTCCAGGAGGATCCTGGAGTCCATGAGGTGCCCATGAACTTCTGCTTTTCCTTGGAAGGTGGGGATGTGGAATGGTGGGGGAGGGTCTAGGGCCTGGGCCCGCCCCTCACACAGGCATGGCCACTTCGTCGTATTCATCCCGACCTTCCTCCTCATCAAAGGTTGCCTTGGCATCATCAGCATCCAGCTGGAGGGGAGGGACAGGAGAGAGACAGGGTGAGAGACCCTGGGGCCAGAAGAGCCCTCCCCGGGCACGAAAGGCACCTCTGGAGTTAGGAGAGGGTCTGGCTGTCTTGAACCTTGGACCAGTCCTGTTTTATCTCCCCAGCAGCTAGGACTGGCCTAAATGAGTCGTTGTCAAAGTGAGAGGCAACCCCGGGGATGTGGACCCTGGCAGGGGAGGGCCTGCAGAGGGTGAGCAGGGGACCTTTTCACCAAGGCGGCCCCACAGTGACCTGAGTCACCCTGTGGAAGAATCCTATTAGAGGAGTGACTCTGTCCCAAATGACTCGGAAGACGGCAGGACTTGCTGCTTAGGGGTCCAGCTCACTCACAGCACACCCTGTCTGCCTCTTGACGCTCTCCCCAGTCGTGCCATCATTTCCCCCTTTACAGGTGAGCAAAATGAAGACACAGAGAAACAAGGCCCCGTGCTCCAGATCATATGCTAGGACACAGCAGGCCAGAACCTGGACACCAGCCCTAGCCCCAGACTTTACCCATGACTCTGTCCTGCCTGCCCTAGTTCTGAGACGCGCCCCTCGCATGCTCCCAGCTCTTGTGCCCCAGGCCCAGGCAGCCACTCACACACTGAAGCTCCACGTTCCTGAAGATGAGCGGCAGCAGGACGCGCCGCAGCGGCACAGTGAGGATGAGGACGAAGGGCAGGGCCAGGGAGGCCGGCGTGGACTTCACCACCCACAGCACTGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGTCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGAT 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Task1_train_24664 | A variant has been detected on Chromosome 17 in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | GAAGATGAGCGGCAGCAGGACGCGCCGCAGCGGCACAGTGAGGATGAGGACGAAGGGCAGGGCCAGGGAGGCCGGCGTGGACTTCACCACCCACAGCACTGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAA 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GAAGATGAGCGGCAGCAGGACGCGCCGCAGCGGCACAGTGAGGATGAGGACGAAGGGCAGGGCCAGGGAGGCCGGCGTGGACTTCACCACCCACAGCACTGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCACGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAA 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Task1_train_24665 | A genetic alteration is present in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Cryohydrocytosis | GGCAGCAGGACGCGCCGCAGCGGCACAGTGAGGATGAGGACGAAGGGCAGGGCCAGGGAGGCCGGCGTGGACTTCACCACCCACAGCACTGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATG 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GGCAGCAGGACGCGCCGCAGCGGCACAGTGAGGATGAGGACGAAGGGCAGGGCCAGGGAGGCCGGCGTGGACTTCACCACCCACAGCACTGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGGACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATG 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Task1_train_24666 | Gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Autosomal dominant distal renal tubular acidosis | AGCAGGACGCGCCGCAGCGGCACAGTGAGGATGAGGACGAAGGGCAGGGCCAGGGAGGCCGGCGTGGACTTCACCACCCACAGCACTGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACC | AGCAGGACGCGCCGCAGCGGCACAGTGAGGATGAGGACGAAGGGCAGGGCCAGGGAGGCCGGCGTGGACTTCACCACCCACAGCACTGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACACACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACC 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Task1_train_24667 | A variant on Chromosome 17 in gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; SLC4A1-related disorder | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC 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TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGTCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC 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Task1_train_24668 | This sequence variant lies in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Renal tubular acidosis, distal, 4, with hemolytic anemia | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC 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TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGTCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC 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Task1_train_24669 | The gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Cryohydrocytosis | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC 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TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGTCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC 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Task1_train_24670 | A mutation in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Autosomal dominant distal renal tubular acidosis | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC 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TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGTCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC 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Task1_train_24671 | A genomic change on Chromosome 17 affects SLC4A1 (solute carrier family 4 member 1 (Diego blood group)). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Southeast Asian ovalocytosis | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC 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TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGTCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC 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Task1_train_24672 | This sequence variant lies in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; BLOOD GROUP--SWANN SYSTEM | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGTCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC |
Task1_train_24673 | This mutation is located in gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; BLOOD GROUP--WALDNER TYPE | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGTCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC |
Task1_train_24674 | Given this variant in gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; BLOOD GROUP--FROESE | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGTCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC 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Task1_train_24675 | A variant affecting Chromosome 17, within the gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), has been observed. Determine if it's benign or associated with disease. | Pathogenic; BLOOD GROUP--WRIGHT ANTIGEN | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC 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TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGTCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC 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Task1_train_24676 | The gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hereditary spherocytosis type 4 | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGTCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC 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Task1_train_24677 | An alteration has been detected in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Malaria, susceptibility to | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGTCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC 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Task1_train_24678 | This alteration in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; BLOOD GROUP--DIEGO SYSTEM | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC 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TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGTCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC 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Task1_train_24679 | Gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Renal tubular acidosis, distal, 4, with hemolytic anemia | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC 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TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGTCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC 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Task1_train_24680 | Here is a genetic alteration in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Cryohydrocytosis | CCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATG | CCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCGGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATG 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Task1_train_24681 | Assess the clinical impact of this variant on gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Autosomal dominant distal renal tubular acidosis | CAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTA 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CAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGAAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTA 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Task1_train_24682 | This variant affects the gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Autosomal dominant distal renal tubular acidosis | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC 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GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCTGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC 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Task1_train_24683 | This alteration occurs within gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Southeast Asian ovalocytosis | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC 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GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCTGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC 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Task1_train_24684 | Given this context: Chromosome 17, gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Southeast Asian ovalocytosis | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC 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GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCTGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC 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Task1_train_24685 | An alteration has been detected in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hereditary spherocytosis type 4 | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC 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GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCTGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC 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Task1_train_24686 | Gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Malaria, susceptibility to | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC 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GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCTGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC 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Task1_train_24687 | A mutation on Chromosome 17 affecting SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Cryohydrocytosis | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC 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GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCTGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC 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Task1_train_24688 | This is a variant in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Autosomal dominant distal renal tubular acidosis | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC 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GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCTGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC 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Task1_train_24689 | A change on Chromosome 17 affects gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Renal tubular acidosis, distal, 4, with hemolytic anemia | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC 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GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCTGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC 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Task1_train_24690 | Consider this mutation in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; BLOOD GROUP--WALDNER TYPE | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC 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GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCTGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC 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Task1_train_24691 | Assess the clinical impact of this variant on gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; BLOOD GROUP--FROESE | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC 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GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCTGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC 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Task1_train_24692 | Here is a variant affecting SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; BLOOD GROUP--WRIGHT ANTIGEN | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC 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GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCTGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC 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Task1_train_24693 | This mutation is located in gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; BLOOD GROUP--SWANN SYSTEM | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC 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GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCTGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC 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Task1_train_24694 | A variant was discovered in gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; BLOOD GROUP--DIEGO SYSTEM | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC 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GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCTGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC 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Task1_train_24695 | This genomic variant is located on Chromosome 17, within the SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Renal tubular acidosis, distal, 4, with hemolytic anemia | CGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCAT 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CGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGAGGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCAT 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Task1_train_24696 | This variant impacts the gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; SLC4A1-related disorder | CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC 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CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGTGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC 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Task1_train_24697 | The gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Autosomal dominant distal renal tubular acidosis | CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC 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CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGTGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC 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Task1_train_24698 | This genomic variant is located on Chromosome 17, within the SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Renal tubular acidosis, distal, 4, with hemolytic anemia | CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC 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CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGTGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC 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Task1_train_24699 | This genomic variant is located on Chromosome 17, within the SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Cryohydrocytosis | CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC 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CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGTGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC 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