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_24400 | A sequence alteration has been identified in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGA | TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCAGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGA |
Task1_train_24401 | This mutation occurs in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; STAT3 gain of function | TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGA | TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCGGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGA |
Task1_train_24402 | This is a variant in STAT3 (signal transducer and activator of transcription 3), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGA | TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCGGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGA |
Task1_train_24403 | A sequence alteration has been identified in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGA | TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCTGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGA |
Task1_train_24404 | A genomic change on Chromosome 17 affects STAT3 (signal transducer and activator of transcription 3). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Inherited Immunodeficiency Diseases | TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGA | TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCTGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGA |
Task1_train_24405 | This variant affects the gene STAT3 (signal transducer and activator of transcription 3) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; STAT3 gain of function | TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGA | TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCTGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGA |
Task1_train_24406 | The gene STAT3 (signal transducer and activator of transcription 3) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGA | TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCTGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGA |
Task1_train_24407 | A variant on Chromosome 17 in gene STAT3 (signal transducer and activator of transcription 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | GCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAG | GCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCAGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAG |
Task1_train_24408 | Here’s a variant in STAT3 (signal transducer and activator of transcription 3) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; STAT3-related early-onset multisystem autoimmune disease | GCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAG | GCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCAGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAG |
Task1_train_24409 | A sequence alteration has been identified in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | GCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAG | GCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCAGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAG |
Task1_train_24410 | A variant affecting Chromosome 17, within the gene STAT3 (signal transducer and activator of transcription 3), has been observed. Determine if it's benign or associated with disease. | Pathogenic; STAT3-related early-onset multisystem autoimmune disease | GCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAG | GCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCAGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAG |
Task1_train_24411 | Gene STAT3 (signal transducer and activator of transcription 3) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; STAT3 gain of function | GCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAG | GCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCAGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAG |
Task1_train_24412 | Located on Chromosome 17, this mutation impacts STAT3 (signal transducer and activator of transcription 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | GCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAG | GCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCAGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAG |
Task1_train_24413 | Consider a variant on Chromosome 17 in gene STAT3 (signal transducer and activator of transcription 3). Determine its clinical classification and disease relevance. | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | AAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAG | AAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCCGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAG |
Task1_train_24414 | This variant affects the gene STAT3 (signal transducer and activator of transcription 3) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; STAT3 gain of function | AAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAG | AAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCCGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAG |
Task1_train_24415 | The variant affects gene STAT3 (signal transducer and activator of transcription 3), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; STAT3-related early-onset multisystem autoimmune disease | GCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGA | GCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGAACAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGA |
Task1_train_24416 | A variant was discovered on Chromosome 17, affecting STAT3 (signal transducer and activator of transcription 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; STAT3-related early-onset multisystem autoimmune disease | AGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGACACCACACCTGGAAAGAATGACCCTGGCCACCAACTCTACCCTCACCCTAACAGTGTCCCTCAGTAAAATCTCTACTGGAAATGGAAGTGGCATGGCCTACCTGACTTTAGTAGTGAACTGGACGCCGGTCTTGATGACGAGGGGCCGGTCAGGATGCATGGGCATGCAGGGCTGCCGCTCCACCACAAAGGCACTGAGGAAAGAGAAGATGGGCTCACGCGCCACGGCCATGACCAGAAGTCAGCCCGCCTCTCACTCTACCACGTGAGTCTTTAGGTATTTTTTAGATGAGGGAAAGGGACAAGGATGCTAAATTACCTTTTCATTAAGTTTCTAAACAGCTCCACGATTCTCTCCTCCAGCATCGGCCGGTGCTGTACAATGGGGTCCCCTTTGTAGGAAACTTTTTGCTGCAACTCCTCCAGTTTCTTAATTTGTTGACGGGTCTGAAGTTGAGATTCTGCTAATGACGTTATCCTGCCAATAAATTAAGAAAGATGCTAATTACCAAAGTGAATGTATACAGGTGAGATGGAGAAGGGGAAGGAAATACTGAAGACATGGAGACCACTACAATAAGAACAAGGAATTTTTTTATTGTGGTGAAATATATATAGCATGAAATTTACAATTTTTCATCTTAAGTTTACAGTTCAGTGACATTAAGAAAAGAGGAATTTTTCACCATGTTGGGTGGATGCTGAAAAAATAAATAAAAAAAGAAAATAATTTATTTATTTATTTATTTTTTGAGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATTTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCCTGAGAGATTACAGGTGTAAGCCACTGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACTCCCGGATAATTTTTGCATTTTTAGTAGAGATGGGATTTTGCCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCGACCTCCCGAAGTACTGGCATTACAGGTGTGAGCCACCATGCCTGGCCAGAAAATAATTTATTTTACCTTTTATTACTAGTCCCTTCCTAAAATCTCAAATTTCTAAGAGGGGGCTGGGCACACAAGAAGTATTAAAATTTATACCACTAGGAGGCATTGATGGAGTTATCACTGGAAAATGACAAGCATCTGAGCCCAGATATGCAGAACACGAAATATGGAATTTAGCACTTACTTTACTCATCCTAACTTGTCTATGAACATAAAGACTCAGAAAAAGAGATTAGACAGCTCCCAAAGATGGGTTTGAGCCAGCTCTGTCACACACTATCTGTGCAAGCTTTGCCAGGCCCTTCACCATCATGGGCCTTAGCATCCCCTTGCATGAAGAGAAGGGCTTGAACTACATGAGCCCTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGGGTCCCACTCTGTGGCCTAGTGCAGTGCAATGGCATGATCATAGCTCACTGCCTCCTCCAACTCCTGGACATGAGTGATCCTCCTACCTCAGCTTCCTGAGTAGCTAGAACTATAGGTGTGTGCCACCATGCCTGTTTAGTTTAGTTTAGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGAAGTGTAATGGCACATGTCTAGTTTTTTAAATTTTTGTAGGGATGGGATCTCACTTTGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGTGATCCTCCCGACTCTGCCTCCCAAAGCATTGGGATTTACAGGCGTGAGCCACAACACCCAATCCCCATAAGCCTTTTCAATGTCAGCCTTCAACTGATCAAAGGACATGACATTATGTTTCAAAATATTGATAACATGCACAAGGAATAAGTGAATAGAGAGGGAGAAAAAGCTCATTAAATCTATCTCCAAGAATAGAGATATTAGGCCAGGTGCAGTGGCTGACACCTGTAATCCCAAAAATTTGAGAGGCCGAGGCAGGTCGATCTACTAAAATACAAAAAAATAGCCAGGCATGGTGGCATGGG | AGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGACACCACACCTGGAAAGAATGACCCTGGCCACCAACTCTACCCTCACCCTAACAGTGTCCCTCAGTAAAATCTCTACTGGAAATGGAAGTGGCATGGCCTACCTGACTTTAGTAGTGAAGTGGACGCCGGTCTTGATGACGAGGGGCCGGTCAGGATGCATGGGCATGCAGGGCTGCCGCTCCACCACAAAGGCACTGAGGAAAGAGAAGATGGGCTCACGCGCCACGGCCATGACCAGAAGTCAGCCCGCCTCTCACTCTACCACGTGAGTCTTTAGGTATTTTTTAGATGAGGGAAAGGGACAAGGATGCTAAATTACCTTTTCATTAAGTTTCTAAACAGCTCCACGATTCTCTCCTCCAGCATCGGCCGGTGCTGTACAATGGGGTCCCCTTTGTAGGAAACTTTTTGCTGCAACTCCTCCAGTTTCTTAATTTGTTGACGGGTCTGAAGTTGAGATTCTGCTAATGACGTTATCCTGCCAATAAATTAAGAAAGATGCTAATTACCAAAGTGAATGTATACAGGTGAGATGGAGAAGGGGAAGGAAATACTGAAGACATGGAGACCACTACAATAAGAACAAGGAATTTTTTTATTGTGGTGAAATATATATAGCATGAAATTTACAATTTTTCATCTTAAGTTTACAGTTCAGTGACATTAAGAAAAGAGGAATTTTTCACCATGTTGGGTGGATGCTGAAAAAATAAATAAAAAAAGAAAATAATTTATTTATTTATTTATTTTTTGAGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATTTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCCTGAGAGATTACAGGTGTAAGCCACTGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACTCCCGGATAATTTTTGCATTTTTAGTAGAGATGGGATTTTGCCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCGACCTCCCGAAGTACTGGCATTACAGGTGTGAGCCACCATGCCTGGCCAGAAAATAATTTATTTTACCTTTTATTACTAGTCCCTTCCTAAAATCTCAAATTTCTAAGAGGGGGCTGGGCACACAAGAAGTATTAAAATTTATACCACTAGGAGGCATTGATGGAGTTATCACTGGAAAATGACAAGCATCTGAGCCCAGATATGCAGAACACGAAATATGGAATTTAGCACTTACTTTACTCATCCTAACTTGTCTATGAACATAAAGACTCAGAAAAAGAGATTAGACAGCTCCCAAAGATGGGTTTGAGCCAGCTCTGTCACACACTATCTGTGCAAGCTTTGCCAGGCCCTTCACCATCATGGGCCTTAGCATCCCCTTGCATGAAGAGAAGGGCTTGAACTACATGAGCCCTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGGGTCCCACTCTGTGGCCTAGTGCAGTGCAATGGCATGATCATAGCTCACTGCCTCCTCCAACTCCTGGACATGAGTGATCCTCCTACCTCAGCTTCCTGAGTAGCTAGAACTATAGGTGTGTGCCACCATGCCTGTTTAGTTTAGTTTAGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGAAGTGTAATGGCACATGTCTAGTTTTTTAAATTTTTGTAGGGATGGGATCTCACTTTGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGTGATCCTCCCGACTCTGCCTCCCAAAGCATTGGGATTTACAGGCGTGAGCCACAACACCCAATCCCCATAAGCCTTTTCAATGTCAGCCTTCAACTGATCAAAGGACATGACATTATGTTTCAAAATATTGATAACATGCACAAGGAATAAGTGAATAGAGAGGGAGAAAAAGCTCATTAAATCTATCTCCAAGAATAGAGATATTAGGCCAGGTGCAGTGGCTGACACCTGTAATCCCAAAAATTTGAGAGGCCGAGGCAGGTCGATCTACTAAAATACAAAAAAATAGCCAGGCATGGTGGCATGGG |
Task1_train_24417 | The gene STAT3 (signal transducer and activator of transcription 3), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Inborn genetic diseases | GCACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGACACCACACCTGGAAAGAATGACCCTGGCCACCAACTCTACCCTCACCCTAACAGTGTCCCTCAGTAAAATCTCTACTGGAAATGGAAGTGGCATGGCCTACCTGACTTTAGTAGTGAACTGGACGCCGGTCTTGATGACGAGGGGCCGGTCAGGATGCATGGGCATGCAGGGCTGCCGCTCCACCACAAAGGCACTGAGGAAAGAGAAGATGGGCTCACGCGCCACGGCCATGACCAGAAGTCAGCCCGCCTCTCACTCTACCACGTGAGTCTTTAGGTATTTTTTAGATGAGGGAAAGGGACAAGGATGCTAAATTACCTTTTCATTAAGTTTCTAAACAGCTCCACGATTCTCTCCTCCAGCATCGGCCGGTGCTGTACAATGGGGTCCCCTTTGTAGGAAACTTTTTGCTGCAACTCCTCCAGTTTCTTAATTTGTTGACGGGTCTGAAGTTGAGATTCTGCTAATGACGTTATCCTGCCAATAAATTAAGAAAGATGCTAATTACCAAAGTGAATGTATACAGGTGAGATGGAGAAGGGGAAGGAAATACTGAAGACATGGAGACCACTACAATAAGAACAAGGAATTTTTTTATTGTGGTGAAATATATATAGCATGAAATTTACAATTTTTCATCTTAAGTTTACAGTTCAGTGACATTAAGAAAAGAGGAATTTTTCACCATGTTGGGTGGATGCTGAAAAAATAAATAAAAAAAGAAAATAATTTATTTATTTATTTATTTTTTGAGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATTTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCCTGAGAGATTACAGGTGTAAGCCACTGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACTCCCGGATAATTTTTGCATTTTTAGTAGAGATGGGATTTTGCCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCGACCTCCCGAAGTACTGGCATTACAGGTGTGAGCCACCATGCCTGGCCAGAAAATAATTTATTTTACCTTTTATTACTAGTCCCTTCCTAAAATCTCAAATTTCTAAGAGGGGGCTGGGCACACAAGAAGTATTAAAATTTATACCACTAGGAGGCATTGATGGAGTTATCACTGGAAAATGACAAGCATCTGAGCCCAGATATGCAGAACACGAAATATGGAATTTAGCACTTACTTTACTCATCCTAACTTGTCTATGAACATAAAGACTCAGAAAAAGAGATTAGACAGCTCCCAAAGATGGGTTTGAGCCAGCTCTGTCACACACTATCTGTGCAAGCTTTGCCAGGCCCTTCACCATCATGGGCCTTAGCATCCCCTTGCATGAAGAGAAGGGCTTGAACTACATGAGCCCTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGGGTCCCACTCTGTGGCCTAGTGCAGTGCAATGGCATGATCATAGCTCACTGCCTCCTCCAACTCCTGGACATGAGTGATCCTCCTACCTCAGCTTCCTGAGTAGCTAGAACTATAGGTGTGTGCCACCATGCCTGTTTAGTTTAGTTTAGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGAAGTGTAATGGCACATGTCTAGTTTTTTAAATTTTTGTAGGGATGGGATCTCACTTTGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGTGATCCTCCCGACTCTGCCTCCCAAAGCATTGGGATTTACAGGCGTGAGCCACAACACCCAATCCCCATAAGCCTTTTCAATGTCAGCCTTCAACTGATCAAAGGACATGACATTATGTTTCAAAATATTGATAACATGCACAAGGAATAAGTGAATAGAGAGGGAGAAAAAGCTCATTAAATCTATCTCCAAGAATAGAGATATTAGGCCAGGTGCAGTGGCTGACACCTGTAATCCCAAAAATTTGAGAGGCCGAGGCAGGTCGATCTACTAAAATACAAAAAAATAGCCAGGCATGGTGGCATGGGCCTGTAATCCCAGCTACTTGGAAGGTTGTGACTAAGA | GCACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGACACCACACCTGGAAAGAATGACCCTGGCCACCAACTCTACCCTCACCCTAACAGTGTCCCTCAGTAAAATCTCTACTGGAAATGGAAGTGGCATGGCCTACCTGACTTTAGTAGTGAACTGGACGCCGGTCTTGATGACGAGGGGCCGGTCAGGAAGCATGGGCATGCAGGGCTGCCGCTCCACCACAAAGGCACTGAGGAAAGAGAAGATGGGCTCACGCGCCACGGCCATGACCAGAAGTCAGCCCGCCTCTCACTCTACCACGTGAGTCTTTAGGTATTTTTTAGATGAGGGAAAGGGACAAGGATGCTAAATTACCTTTTCATTAAGTTTCTAAACAGCTCCACGATTCTCTCCTCCAGCATCGGCCGGTGCTGTACAATGGGGTCCCCTTTGTAGGAAACTTTTTGCTGCAACTCCTCCAGTTTCTTAATTTGTTGACGGGTCTGAAGTTGAGATTCTGCTAATGACGTTATCCTGCCAATAAATTAAGAAAGATGCTAATTACCAAAGTGAATGTATACAGGTGAGATGGAGAAGGGGAAGGAAATACTGAAGACATGGAGACCACTACAATAAGAACAAGGAATTTTTTTATTGTGGTGAAATATATATAGCATGAAATTTACAATTTTTCATCTTAAGTTTACAGTTCAGTGACATTAAGAAAAGAGGAATTTTTCACCATGTTGGGTGGATGCTGAAAAAATAAATAAAAAAAGAAAATAATTTATTTATTTATTTATTTTTTGAGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATTTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCCTGAGAGATTACAGGTGTAAGCCACTGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACTCCCGGATAATTTTTGCATTTTTAGTAGAGATGGGATTTTGCCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCGACCTCCCGAAGTACTGGCATTACAGGTGTGAGCCACCATGCCTGGCCAGAAAATAATTTATTTTACCTTTTATTACTAGTCCCTTCCTAAAATCTCAAATTTCTAAGAGGGGGCTGGGCACACAAGAAGTATTAAAATTTATACCACTAGGAGGCATTGATGGAGTTATCACTGGAAAATGACAAGCATCTGAGCCCAGATATGCAGAACACGAAATATGGAATTTAGCACTTACTTTACTCATCCTAACTTGTCTATGAACATAAAGACTCAGAAAAAGAGATTAGACAGCTCCCAAAGATGGGTTTGAGCCAGCTCTGTCACACACTATCTGTGCAAGCTTTGCCAGGCCCTTCACCATCATGGGCCTTAGCATCCCCTTGCATGAAGAGAAGGGCTTGAACTACATGAGCCCTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGGGTCCCACTCTGTGGCCTAGTGCAGTGCAATGGCATGATCATAGCTCACTGCCTCCTCCAACTCCTGGACATGAGTGATCCTCCTACCTCAGCTTCCTGAGTAGCTAGAACTATAGGTGTGTGCCACCATGCCTGTTTAGTTTAGTTTAGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGAAGTGTAATGGCACATGTCTAGTTTTTTAAATTTTTGTAGGGATGGGATCTCACTTTGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGTGATCCTCCCGACTCTGCCTCCCAAAGCATTGGGATTTACAGGCGTGAGCCACAACACCCAATCCCCATAAGCCTTTTCAATGTCAGCCTTCAACTGATCAAAGGACATGACATTATGTTTCAAAATATTGATAACATGCACAAGGAATAAGTGAATAGAGAGGGAGAAAAAGCTCATTAAATCTATCTCCAAGAATAGAGATATTAGGCCAGGTGCAGTGGCTGACACCTGTAATCCCAAAAATTTGAGAGGCCGAGGCAGGTCGATCTACTAAAATACAAAAAAATAGCCAGGCATGGTGGCATGGGCCTGTAATCCCAGCTACTTGGAAGGTTGTGACTAAGA |
Task1_train_24418 | A genetic alteration is present in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | CACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGACACCACACCTGGAAAGAATGACCCTGGCCACCAACTCTACCCTCACCCTAACAGTGTCCCTCAGTAAAATCTCTACTGGAAATGGAAGTGGCATGGCCTACCTGACTTTAGTAGTGAACTGGACGCCGGTCTTGATGACGAGGGGCCGGTCAGGATGCATGGGCATGCAGGGCTGCCGCTCCACCACAAAGGCACTGAGGAAAGAGAAGATGGGCTCACGCGCCACGGCCATGACCAGAAGTCAGCCCGCCTCTCACTCTACCACGTGAGTCTTTAGGTATTTTTTAGATGAGGGAAAGGGACAAGGATGCTAAATTACCTTTTCATTAAGTTTCTAAACAGCTCCACGATTCTCTCCTCCAGCATCGGCCGGTGCTGTACAATGGGGTCCCCTTTGTAGGAAACTTTTTGCTGCAACTCCTCCAGTTTCTTAATTTGTTGACGGGTCTGAAGTTGAGATTCTGCTAATGACGTTATCCTGCCAATAAATTAAGAAAGATGCTAATTACCAAAGTGAATGTATACAGGTGAGATGGAGAAGGGGAAGGAAATACTGAAGACATGGAGACCACTACAATAAGAACAAGGAATTTTTTTATTGTGGTGAAATATATATAGCATGAAATTTACAATTTTTCATCTTAAGTTTACAGTTCAGTGACATTAAGAAAAGAGGAATTTTTCACCATGTTGGGTGGATGCTGAAAAAATAAATAAAAAAAGAAAATAATTTATTTATTTATTTATTTTTTGAGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATTTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCCTGAGAGATTACAGGTGTAAGCCACTGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACTCCCGGATAATTTTTGCATTTTTAGTAGAGATGGGATTTTGCCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCGACCTCCCGAAGTACTGGCATTACAGGTGTGAGCCACCATGCCTGGCCAGAAAATAATTTATTTTACCTTTTATTACTAGTCCCTTCCTAAAATCTCAAATTTCTAAGAGGGGGCTGGGCACACAAGAAGTATTAAAATTTATACCACTAGGAGGCATTGATGGAGTTATCACTGGAAAATGACAAGCATCTGAGCCCAGATATGCAGAACACGAAATATGGAATTTAGCACTTACTTTACTCATCCTAACTTGTCTATGAACATAAAGACTCAGAAAAAGAGATTAGACAGCTCCCAAAGATGGGTTTGAGCCAGCTCTGTCACACACTATCTGTGCAAGCTTTGCCAGGCCCTTCACCATCATGGGCCTTAGCATCCCCTTGCATGAAGAGAAGGGCTTGAACTACATGAGCCCTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGGGTCCCACTCTGTGGCCTAGTGCAGTGCAATGGCATGATCATAGCTCACTGCCTCCTCCAACTCCTGGACATGAGTGATCCTCCTACCTCAGCTTCCTGAGTAGCTAGAACTATAGGTGTGTGCCACCATGCCTGTTTAGTTTAGTTTAGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGAAGTGTAATGGCACATGTCTAGTTTTTTAAATTTTTGTAGGGATGGGATCTCACTTTGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGTGATCCTCCCGACTCTGCCTCCCAAAGCATTGGGATTTACAGGCGTGAGCCACAACACCCAATCCCCATAAGCCTTTTCAATGTCAGCCTTCAACTGATCAAAGGACATGACATTATGTTTCAAAATATTGATAACATGCACAAGGAATAAGTGAATAGAGAGGGAGAAAAAGCTCATTAAATCTATCTCCAAGAATAGAGATATTAGGCCAGGTGCAGTGGCTGACACCTGTAATCCCAAAAATTTGAGAGGCCGAGGCAGGTCGATCTACTAAAATACAAAAAAATAGCCAGGCATGGTGGCATGGGCCTGTAATCCCAGCTACTTGGAAGGTTGTGACTAAGAA | CACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGACACCACACCTGGAAAGAATGACCCTGGCCACCAACTCTACCCTCACCCTAACAGTGTCCCTCAGTAAAATCTCTACTGGAAATGGAAGTGGCATGGCCTACCTGACTTTAGTAGTGAACTGGACGCCGGTCTTGATGACGAGGGGCCGGTCAGGATACATGGGCATGCAGGGCTGCCGCTCCACCACAAAGGCACTGAGGAAAGAGAAGATGGGCTCACGCGCCACGGCCATGACCAGAAGTCAGCCCGCCTCTCACTCTACCACGTGAGTCTTTAGGTATTTTTTAGATGAGGGAAAGGGACAAGGATGCTAAATTACCTTTTCATTAAGTTTCTAAACAGCTCCACGATTCTCTCCTCCAGCATCGGCCGGTGCTGTACAATGGGGTCCCCTTTGTAGGAAACTTTTTGCTGCAACTCCTCCAGTTTCTTAATTTGTTGACGGGTCTGAAGTTGAGATTCTGCTAATGACGTTATCCTGCCAATAAATTAAGAAAGATGCTAATTACCAAAGTGAATGTATACAGGTGAGATGGAGAAGGGGAAGGAAATACTGAAGACATGGAGACCACTACAATAAGAACAAGGAATTTTTTTATTGTGGTGAAATATATATAGCATGAAATTTACAATTTTTCATCTTAAGTTTACAGTTCAGTGACATTAAGAAAAGAGGAATTTTTCACCATGTTGGGTGGATGCTGAAAAAATAAATAAAAAAAGAAAATAATTTATTTATTTATTTATTTTTTGAGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATTTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCCTGAGAGATTACAGGTGTAAGCCACTGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACTCCCGGATAATTTTTGCATTTTTAGTAGAGATGGGATTTTGCCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCGACCTCCCGAAGTACTGGCATTACAGGTGTGAGCCACCATGCCTGGCCAGAAAATAATTTATTTTACCTTTTATTACTAGTCCCTTCCTAAAATCTCAAATTTCTAAGAGGGGGCTGGGCACACAAGAAGTATTAAAATTTATACCACTAGGAGGCATTGATGGAGTTATCACTGGAAAATGACAAGCATCTGAGCCCAGATATGCAGAACACGAAATATGGAATTTAGCACTTACTTTACTCATCCTAACTTGTCTATGAACATAAAGACTCAGAAAAAGAGATTAGACAGCTCCCAAAGATGGGTTTGAGCCAGCTCTGTCACACACTATCTGTGCAAGCTTTGCCAGGCCCTTCACCATCATGGGCCTTAGCATCCCCTTGCATGAAGAGAAGGGCTTGAACTACATGAGCCCTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGGGTCCCACTCTGTGGCCTAGTGCAGTGCAATGGCATGATCATAGCTCACTGCCTCCTCCAACTCCTGGACATGAGTGATCCTCCTACCTCAGCTTCCTGAGTAGCTAGAACTATAGGTGTGTGCCACCATGCCTGTTTAGTTTAGTTTAGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGAAGTGTAATGGCACATGTCTAGTTTTTTAAATTTTTGTAGGGATGGGATCTCACTTTGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGTGATCCTCCCGACTCTGCCTCCCAAAGCATTGGGATTTACAGGCGTGAGCCACAACACCCAATCCCCATAAGCCTTTTCAATGTCAGCCTTCAACTGATCAAAGGACATGACATTATGTTTCAAAATATTGATAACATGCACAAGGAATAAGTGAATAGAGAGGGAGAAAAAGCTCATTAAATCTATCTCCAAGAATAGAGATATTAGGCCAGGTGCAGTGGCTGACACCTGTAATCCCAAAAATTTGAGAGGCCGAGGCAGGTCGATCTACTAAAATACAAAAAAATAGCCAGGCATGGTGGCATGGGCCTGTAATCCCAGCTACTTGGAAGGTTGTGACTAAGAA |
Task1_train_24419 | A sequence alteration has been identified in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; STAT3 gain of function | CACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGACACCACACCTGGAAAGAATGACCCTGGCCACCAACTCTACCCTCACCCTAACAGTGTCCCTCAGTAAAATCTCTACTGGAAATGGAAGTGGCATGGCCTACCTGACTTTAGTAGTGAACTGGACGCCGGTCTTGATGACGAGGGGCCGGTCAGGATGCATGGGCATGCAGGGCTGCCGCTCCACCACAAAGGCACTGAGGAAAGAGAAGATGGGCTCACGCGCCACGGCCATGACCAGAAGTCAGCCCGCCTCTCACTCTACCACGTGAGTCTTTAGGTATTTTTTAGATGAGGGAAAGGGACAAGGATGCTAAATTACCTTTTCATTAAGTTTCTAAACAGCTCCACGATTCTCTCCTCCAGCATCGGCCGGTGCTGTACAATGGGGTCCCCTTTGTAGGAAACTTTTTGCTGCAACTCCTCCAGTTTCTTAATTTGTTGACGGGTCTGAAGTTGAGATTCTGCTAATGACGTTATCCTGCCAATAAATTAAGAAAGATGCTAATTACCAAAGTGAATGTATACAGGTGAGATGGAGAAGGGGAAGGAAATACTGAAGACATGGAGACCACTACAATAAGAACAAGGAATTTTTTTATTGTGGTGAAATATATATAGCATGAAATTTACAATTTTTCATCTTAAGTTTACAGTTCAGTGACATTAAGAAAAGAGGAATTTTTCACCATGTTGGGTGGATGCTGAAAAAATAAATAAAAAAAGAAAATAATTTATTTATTTATTTATTTTTTGAGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATTTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCCTGAGAGATTACAGGTGTAAGCCACTGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACTCCCGGATAATTTTTGCATTTTTAGTAGAGATGGGATTTTGCCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCGACCTCCCGAAGTACTGGCATTACAGGTGTGAGCCACCATGCCTGGCCAGAAAATAATTTATTTTACCTTTTATTACTAGTCCCTTCCTAAAATCTCAAATTTCTAAGAGGGGGCTGGGCACACAAGAAGTATTAAAATTTATACCACTAGGAGGCATTGATGGAGTTATCACTGGAAAATGACAAGCATCTGAGCCCAGATATGCAGAACACGAAATATGGAATTTAGCACTTACTTTACTCATCCTAACTTGTCTATGAACATAAAGACTCAGAAAAAGAGATTAGACAGCTCCCAAAGATGGGTTTGAGCCAGCTCTGTCACACACTATCTGTGCAAGCTTTGCCAGGCCCTTCACCATCATGGGCCTTAGCATCCCCTTGCATGAAGAGAAGGGCTTGAACTACATGAGCCCTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGGGTCCCACTCTGTGGCCTAGTGCAGTGCAATGGCATGATCATAGCTCACTGCCTCCTCCAACTCCTGGACATGAGTGATCCTCCTACCTCAGCTTCCTGAGTAGCTAGAACTATAGGTGTGTGCCACCATGCCTGTTTAGTTTAGTTTAGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGAAGTGTAATGGCACATGTCTAGTTTTTTAAATTTTTGTAGGGATGGGATCTCACTTTGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGTGATCCTCCCGACTCTGCCTCCCAAAGCATTGGGATTTACAGGCGTGAGCCACAACACCCAATCCCCATAAGCCTTTTCAATGTCAGCCTTCAACTGATCAAAGGACATGACATTATGTTTCAAAATATTGATAACATGCACAAGGAATAAGTGAATAGAGAGGGAGAAAAAGCTCATTAAATCTATCTCCAAGAATAGAGATATTAGGCCAGGTGCAGTGGCTGACACCTGTAATCCCAAAAATTTGAGAGGCCGAGGCAGGTCGATCTACTAAAATACAAAAAAATAGCCAGGCATGGTGGCATGGGCCTGTAATCCCAGCTACTTGGAAGGTTGTGACTAAGAA | CACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGACACCACACCTGGAAAGAATGACCCTGGCCACCAACTCTACCCTCACCCTAACAGTGTCCCTCAGTAAAATCTCTACTGGAAATGGAAGTGGCATGGCCTACCTGACTTTAGTAGTGAACTGGACGCCGGTCTTGATGACGAGGGGCCGGTCAGGATACATGGGCATGCAGGGCTGCCGCTCCACCACAAAGGCACTGAGGAAAGAGAAGATGGGCTCACGCGCCACGGCCATGACCAGAAGTCAGCCCGCCTCTCACTCTACCACGTGAGTCTTTAGGTATTTTTTAGATGAGGGAAAGGGACAAGGATGCTAAATTACCTTTTCATTAAGTTTCTAAACAGCTCCACGATTCTCTCCTCCAGCATCGGCCGGTGCTGTACAATGGGGTCCCCTTTGTAGGAAACTTTTTGCTGCAACTCCTCCAGTTTCTTAATTTGTTGACGGGTCTGAAGTTGAGATTCTGCTAATGACGTTATCCTGCCAATAAATTAAGAAAGATGCTAATTACCAAAGTGAATGTATACAGGTGAGATGGAGAAGGGGAAGGAAATACTGAAGACATGGAGACCACTACAATAAGAACAAGGAATTTTTTTATTGTGGTGAAATATATATAGCATGAAATTTACAATTTTTCATCTTAAGTTTACAGTTCAGTGACATTAAGAAAAGAGGAATTTTTCACCATGTTGGGTGGATGCTGAAAAAATAAATAAAAAAAGAAAATAATTTATTTATTTATTTATTTTTTGAGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATTTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCCTGAGAGATTACAGGTGTAAGCCACTGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACTCCCGGATAATTTTTGCATTTTTAGTAGAGATGGGATTTTGCCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCGACCTCCCGAAGTACTGGCATTACAGGTGTGAGCCACCATGCCTGGCCAGAAAATAATTTATTTTACCTTTTATTACTAGTCCCTTCCTAAAATCTCAAATTTCTAAGAGGGGGCTGGGCACACAAGAAGTATTAAAATTTATACCACTAGGAGGCATTGATGGAGTTATCACTGGAAAATGACAAGCATCTGAGCCCAGATATGCAGAACACGAAATATGGAATTTAGCACTTACTTTACTCATCCTAACTTGTCTATGAACATAAAGACTCAGAAAAAGAGATTAGACAGCTCCCAAAGATGGGTTTGAGCCAGCTCTGTCACACACTATCTGTGCAAGCTTTGCCAGGCCCTTCACCATCATGGGCCTTAGCATCCCCTTGCATGAAGAGAAGGGCTTGAACTACATGAGCCCTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGGGTCCCACTCTGTGGCCTAGTGCAGTGCAATGGCATGATCATAGCTCACTGCCTCCTCCAACTCCTGGACATGAGTGATCCTCCTACCTCAGCTTCCTGAGTAGCTAGAACTATAGGTGTGTGCCACCATGCCTGTTTAGTTTAGTTTAGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGAAGTGTAATGGCACATGTCTAGTTTTTTAAATTTTTGTAGGGATGGGATCTCACTTTGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGTGATCCTCCCGACTCTGCCTCCCAAAGCATTGGGATTTACAGGCGTGAGCCACAACACCCAATCCCCATAAGCCTTTTCAATGTCAGCCTTCAACTGATCAAAGGACATGACATTATGTTTCAAAATATTGATAACATGCACAAGGAATAAGTGAATAGAGAGGGAGAAAAAGCTCATTAAATCTATCTCCAAGAATAGAGATATTAGGCCAGGTGCAGTGGCTGACACCTGTAATCCCAAAAATTTGAGAGGCCGAGGCAGGTCGATCTACTAAAATACAAAAAAATAGCCAGGCATGGTGGCATGGGCCTGTAATCCCAGCTACTTGGAAGGTTGTGACTAAGAA |
Task1_train_24420 | Located on Chromosome 17, this mutation impacts STAT3 (signal transducer and activator of transcription 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | CACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGACACCACACCTGGAAAGAATGACCCTGGCCACCAACTCTACCCTCACCCTAACAGTGTCCCTCAGTAAAATCTCTACTGGAAATGGAAGTGGCATGGCCTACCTGACTTTAGTAGTGAACTGGACGCCGGTCTTGATGACGAGGGGCCGGTCAGGATGCATGGGCATGCAGGGCTGCCGCTCCACCACAAAGGCACTGAGGAAAGAGAAGATGGGCTCACGCGCCACGGCCATGACCAGAAGTCAGCCCGCCTCTCACTCTACCACGTGAGTCTTTAGGTATTTTTTAGATGAGGGAAAGGGACAAGGATGCTAAATTACCTTTTCATTAAGTTTCTAAACAGCTCCACGATTCTCTCCTCCAGCATCGGCCGGTGCTGTACAATGGGGTCCCCTTTGTAGGAAACTTTTTGCTGCAACTCCTCCAGTTTCTTAATTTGTTGACGGGTCTGAAGTTGAGATTCTGCTAATGACGTTATCCTGCCAATAAATTAAGAAAGATGCTAATTACCAAAGTGAATGTATACAGGTGAGATGGAGAAGGGGAAGGAAATACTGAAGACATGGAGACCACTACAATAAGAACAAGGAATTTTTTTATTGTGGTGAAATATATATAGCATGAAATTTACAATTTTTCATCTTAAGTTTACAGTTCAGTGACATTAAGAAAAGAGGAATTTTTCACCATGTTGGGTGGATGCTGAAAAAATAAATAAAAAAAGAAAATAATTTATTTATTTATTTATTTTTTGAGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATTTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCCTGAGAGATTACAGGTGTAAGCCACTGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACTCCCGGATAATTTTTGCATTTTTAGTAGAGATGGGATTTTGCCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCGACCTCCCGAAGTACTGGCATTACAGGTGTGAGCCACCATGCCTGGCCAGAAAATAATTTATTTTACCTTTTATTACTAGTCCCTTCCTAAAATCTCAAATTTCTAAGAGGGGGCTGGGCACACAAGAAGTATTAAAATTTATACCACTAGGAGGCATTGATGGAGTTATCACTGGAAAATGACAAGCATCTGAGCCCAGATATGCAGAACACGAAATATGGAATTTAGCACTTACTTTACTCATCCTAACTTGTCTATGAACATAAAGACTCAGAAAAAGAGATTAGACAGCTCCCAAAGATGGGTTTGAGCCAGCTCTGTCACACACTATCTGTGCAAGCTTTGCCAGGCCCTTCACCATCATGGGCCTTAGCATCCCCTTGCATGAAGAGAAGGGCTTGAACTACATGAGCCCTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGGGTCCCACTCTGTGGCCTAGTGCAGTGCAATGGCATGATCATAGCTCACTGCCTCCTCCAACTCCTGGACATGAGTGATCCTCCTACCTCAGCTTCCTGAGTAGCTAGAACTATAGGTGTGTGCCACCATGCCTGTTTAGTTTAGTTTAGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGAAGTGTAATGGCACATGTCTAGTTTTTTAAATTTTTGTAGGGATGGGATCTCACTTTGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGTGATCCTCCCGACTCTGCCTCCCAAAGCATTGGGATTTACAGGCGTGAGCCACAACACCCAATCCCCATAAGCCTTTTCAATGTCAGCCTTCAACTGATCAAAGGACATGACATTATGTTTCAAAATATTGATAACATGCACAAGGAATAAGTGAATAGAGAGGGAGAAAAAGCTCATTAAATCTATCTCCAAGAATAGAGATATTAGGCCAGGTGCAGTGGCTGACACCTGTAATCCCAAAAATTTGAGAGGCCGAGGCAGGTCGATCTACTAAAATACAAAAAAATAGCCAGGCATGGTGGCATGGGCCTGTAATCCCAGCTACTTGGAAGGTTGTGACTAAGAA | CACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGACACCACACCTGGAAAGAATGACCCTGGCCACCAACTCTACCCTCACCCTAACAGTGTCCCTCAGTAAAATCTCTACTGGAAATGGAAGTGGCATGGCCTACCTGACTTTAGTAGTGAACTGGACGCCGGTCTTGATGACGAGGGGCCGGTCAGGATACATGGGCATGCAGGGCTGCCGCTCCACCACAAAGGCACTGAGGAAAGAGAAGATGGGCTCACGCGCCACGGCCATGACCAGAAGTCAGCCCGCCTCTCACTCTACCACGTGAGTCTTTAGGTATTTTTTAGATGAGGGAAAGGGACAAGGATGCTAAATTACCTTTTCATTAAGTTTCTAAACAGCTCCACGATTCTCTCCTCCAGCATCGGCCGGTGCTGTACAATGGGGTCCCCTTTGTAGGAAACTTTTTGCTGCAACTCCTCCAGTTTCTTAATTTGTTGACGGGTCTGAAGTTGAGATTCTGCTAATGACGTTATCCTGCCAATAAATTAAGAAAGATGCTAATTACCAAAGTGAATGTATACAGGTGAGATGGAGAAGGGGAAGGAAATACTGAAGACATGGAGACCACTACAATAAGAACAAGGAATTTTTTTATTGTGGTGAAATATATATAGCATGAAATTTACAATTTTTCATCTTAAGTTTACAGTTCAGTGACATTAAGAAAAGAGGAATTTTTCACCATGTTGGGTGGATGCTGAAAAAATAAATAAAAAAAGAAAATAATTTATTTATTTATTTATTTTTTGAGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATTTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCCTGAGAGATTACAGGTGTAAGCCACTGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACTCCCGGATAATTTTTGCATTTTTAGTAGAGATGGGATTTTGCCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCGACCTCCCGAAGTACTGGCATTACAGGTGTGAGCCACCATGCCTGGCCAGAAAATAATTTATTTTACCTTTTATTACTAGTCCCTTCCTAAAATCTCAAATTTCTAAGAGGGGGCTGGGCACACAAGAAGTATTAAAATTTATACCACTAGGAGGCATTGATGGAGTTATCACTGGAAAATGACAAGCATCTGAGCCCAGATATGCAGAACACGAAATATGGAATTTAGCACTTACTTTACTCATCCTAACTTGTCTATGAACATAAAGACTCAGAAAAAGAGATTAGACAGCTCCCAAAGATGGGTTTGAGCCAGCTCTGTCACACACTATCTGTGCAAGCTTTGCCAGGCCCTTCACCATCATGGGCCTTAGCATCCCCTTGCATGAAGAGAAGGGCTTGAACTACATGAGCCCTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGGGTCCCACTCTGTGGCCTAGTGCAGTGCAATGGCATGATCATAGCTCACTGCCTCCTCCAACTCCTGGACATGAGTGATCCTCCTACCTCAGCTTCCTGAGTAGCTAGAACTATAGGTGTGTGCCACCATGCCTGTTTAGTTTAGTTTAGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGAAGTGTAATGGCACATGTCTAGTTTTTTAAATTTTTGTAGGGATGGGATCTCACTTTGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGTGATCCTCCCGACTCTGCCTCCCAAAGCATTGGGATTTACAGGCGTGAGCCACAACACCCAATCCCCATAAGCCTTTTCAATGTCAGCCTTCAACTGATCAAAGGACATGACATTATGTTTCAAAATATTGATAACATGCACAAGGAATAAGTGAATAGAGAGGGAGAAAAAGCTCATTAAATCTATCTCCAAGAATAGAGATATTAGGCCAGGTGCAGTGGCTGACACCTGTAATCCCAAAAATTTGAGAGGCCGAGGCAGGTCGATCTACTAAAATACAAAAAAATAGCCAGGCATGGTGGCATGGGCCTGTAATCCCAGCTACTTGGAAGGTTGTGACTAAGAA |
Task1_train_24421 | This alteration in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | GGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGACACCACACCTGGAAAGAATGACCCTGGCCACCAACTCTACCCTCACCCTAACAGTGTCCCTCAGTAAAATCTCTACTGGAAATGGAAGTGGCATGGCCTACCTGACTTTAGTAGTGAACTGGACGCCGGTCTTGATGACGAGGGGCCGGTCAGGATGCATGGGCATGCAGGGCTGCCGCTCCACCACAAAGGCACTGAGGAAAGAGAAGATGGGCTCACGCGCCACGGCCATGACCAGAAGTCAGCCCGCCTCTCACTCTACCACGTGAGTCTTTAGGTATTTTTTAGATGAGGGAAAGGGACAAGGATGCTAAATTACCTTTTCATTAAGTTTCTAAACAGCTCCACGATTCTCTCCTCCAGCATCGGCCGGTGCTGTACAATGGGGTCCCCTTTGTAGGAAACTTTTTGCTGCAACTCCTCCAGTTTCTTAATTTGTTGACGGGTCTGAAGTTGAGATTCTGCTAATGACGTTATCCTGCCAATAAATTAAGAAAGATGCTAATTACCAAAGTGAATGTATACAGGTGAGATGGAGAAGGGGAAGGAAATACTGAAGACATGGAGACCACTACAATAAGAACAAGGAATTTTTTTATTGTGGTGAAATATATATAGCATGAAATTTACAATTTTTCATCTTAAGTTTACAGTTCAGTGACATTAAGAAAAGAGGAATTTTTCACCATGTTGGGTGGATGCTGAAAAAATAAATAAAAAAAGAAAATAATTTATTTATTTATTTATTTTTTGAGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATTTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCCTGAGAGATTACAGGTGTAAGCCACTGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACTCCCGGATAATTTTTGCATTTTTAGTAGAGATGGGATTTTGCCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCGACCTCCCGAAGTACTGGCATTACAGGTGTGAGCCACCATGCCTGGCCAGAAAATAATTTATTTTACCTTTTATTACTAGTCCCTTCCTAAAATCTCAAATTTCTAAGAGGGGGCTGGGCACACAAGAAGTATTAAAATTTATACCACTAGGAGGCATTGATGGAGTTATCACTGGAAAATGACAAGCATCTGAGCCCAGATATGCAGAACACGAAATATGGAATTTAGCACTTACTTTACTCATCCTAACTTGTCTATGAACATAAAGACTCAGAAAAAGAGATTAGACAGCTCCCAAAGATGGGTTTGAGCCAGCTCTGTCACACACTATCTGTGCAAGCTTTGCCAGGCCCTTCACCATCATGGGCCTTAGCATCCCCTTGCATGAAGAGAAGGGCTTGAACTACATGAGCCCTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGGGTCCCACTCTGTGGCCTAGTGCAGTGCAATGGCATGATCATAGCTCACTGCCTCCTCCAACTCCTGGACATGAGTGATCCTCCTACCTCAGCTTCCTGAGTAGCTAGAACTATAGGTGTGTGCCACCATGCCTGTTTAGTTTAGTTTAGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGAAGTGTAATGGCACATGTCTAGTTTTTTAAATTTTTGTAGGGATGGGATCTCACTTTGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGTGATCCTCCCGACTCTGCCTCCCAAAGCATTGGGATTTACAGGCGTGAGCCACAACACCCAATCCCCATAAGCCTTTTCAATGTCAGCCTTCAACTGATCAAAGGACATGACATTATGTTTCAAAATATTGATAACATGCACAAGGAATAAGTGAATAGAGAGGGAGAAAAAGCTCATTAAATCTATCTCCAAGAATAGAGATATTAGGCCAGGTGCAGTGGCTGACACCTGTAATCCCAAAAATTTGAGAGGCCGAGGCAGGTCGATCTACTAAAATACAAAAAAATAGCCAGGCATGGTGGCATGGGCCTGTAATCCCAGCTACTTGGAAGGTTGTGACTAAGAATCGCTT | GGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGACACCACACCTGGAAAGAATGACCCTGGCCACCAACTCTACCCTCACCCTAACAGTGTCCCTCAGTAAAATCTCTACTGGAAATGGAAGTGGCATGGCCTACCTGACTTTAGTAGTGAACTGGACGCCGGTCTTGATGACGAGGGGCCGGTCAGGATGCATGGACATGCAGGGCTGCCGCTCCACCACAAAGGCACTGAGGAAAGAGAAGATGGGCTCACGCGCCACGGCCATGACCAGAAGTCAGCCCGCCTCTCACTCTACCACGTGAGTCTTTAGGTATTTTTTAGATGAGGGAAAGGGACAAGGATGCTAAATTACCTTTTCATTAAGTTTCTAAACAGCTCCACGATTCTCTCCTCCAGCATCGGCCGGTGCTGTACAATGGGGTCCCCTTTGTAGGAAACTTTTTGCTGCAACTCCTCCAGTTTCTTAATTTGTTGACGGGTCTGAAGTTGAGATTCTGCTAATGACGTTATCCTGCCAATAAATTAAGAAAGATGCTAATTACCAAAGTGAATGTATACAGGTGAGATGGAGAAGGGGAAGGAAATACTGAAGACATGGAGACCACTACAATAAGAACAAGGAATTTTTTTATTGTGGTGAAATATATATAGCATGAAATTTACAATTTTTCATCTTAAGTTTACAGTTCAGTGACATTAAGAAAAGAGGAATTTTTCACCATGTTGGGTGGATGCTGAAAAAATAAATAAAAAAAGAAAATAATTTATTTATTTATTTATTTTTTGAGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATTTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCCTGAGAGATTACAGGTGTAAGCCACTGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACTCCCGGATAATTTTTGCATTTTTAGTAGAGATGGGATTTTGCCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCGACCTCCCGAAGTACTGGCATTACAGGTGTGAGCCACCATGCCTGGCCAGAAAATAATTTATTTTACCTTTTATTACTAGTCCCTTCCTAAAATCTCAAATTTCTAAGAGGGGGCTGGGCACACAAGAAGTATTAAAATTTATACCACTAGGAGGCATTGATGGAGTTATCACTGGAAAATGACAAGCATCTGAGCCCAGATATGCAGAACACGAAATATGGAATTTAGCACTTACTTTACTCATCCTAACTTGTCTATGAACATAAAGACTCAGAAAAAGAGATTAGACAGCTCCCAAAGATGGGTTTGAGCCAGCTCTGTCACACACTATCTGTGCAAGCTTTGCCAGGCCCTTCACCATCATGGGCCTTAGCATCCCCTTGCATGAAGAGAAGGGCTTGAACTACATGAGCCCTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGGGTCCCACTCTGTGGCCTAGTGCAGTGCAATGGCATGATCATAGCTCACTGCCTCCTCCAACTCCTGGACATGAGTGATCCTCCTACCTCAGCTTCCTGAGTAGCTAGAACTATAGGTGTGTGCCACCATGCCTGTTTAGTTTAGTTTAGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGAAGTGTAATGGCACATGTCTAGTTTTTTAAATTTTTGTAGGGATGGGATCTCACTTTGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGTGATCCTCCCGACTCTGCCTCCCAAAGCATTGGGATTTACAGGCGTGAGCCACAACACCCAATCCCCATAAGCCTTTTCAATGTCAGCCTTCAACTGATCAAAGGACATGACATTATGTTTCAAAATATTGATAACATGCACAAGGAATAAGTGAATAGAGAGGGAGAAAAAGCTCATTAAATCTATCTCCAAGAATAGAGATATTAGGCCAGGTGCAGTGGCTGACACCTGTAATCCCAAAAATTTGAGAGGCCGAGGCAGGTCGATCTACTAAAATACAAAAAAATAGCCAGGCATGGTGGCATGGGCCTGTAATCCCAGCTACTTGGAAGGTTGTGACTAAGAATCGCTT |
Task1_train_24422 | The gene STAT3 (signal transducer and activator of transcription 3), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | GAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGACACCACACCTGGAAAGAATGACCCTGGCCACCAACTCTACCCTCACCCTAACAGTGTCCCTCAGTAAAATCTCTACTGGAAATGGAAGTGGCATGGCCTACCTGACTTTAGTAGTGAACTGGACGCCGGTCTTGATGACGAGGGGCCGGTCAGGATGCATGGGCATGCAGGGCTGCCGCTCCACCACAAAGGCACTGAGGAAAGAGAAGATGGGCTCACGCGCCACGGCCATGACCAGAAGTCAGCCCGCCTCTCACTCTACCACGTGAGTCTTTAGGTATTTTTTAGATGAGGGAAAGGGACAAGGATGCTAAATTACCTTTTCATTAAGTTTCTAAACAGCTCCACGATTCTCTCCTCCAGCATCGGCCGGTGCTGTACAATGGGGTCCCCTTTGTAGGAAACTTTTTGCTGCAACTCCTCCAGTTTCTTAATTTGTTGACGGGTCTGAAGTTGAGATTCTGCTAATGACGTTATCCTGCCAATAAATTAAGAAAGATGCTAATTACCAAAGTGAATGTATACAGGTGAGATGGAGAAGGGGAAGGAAATACTGAAGACATGGAGACCACTACAATAAGAACAAGGAATTTTTTTATTGTGGTGAAATATATATAGCATGAAATTTACAATTTTTCATCTTAAGTTTACAGTTCAGTGACATTAAGAAAAGAGGAATTTTTCACCATGTTGGGTGGATGCTGAAAAAATAAATAAAAAAAGAAAATAATTTATTTATTTATTTATTTTTTGAGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATTTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCCTGAGAGATTACAGGTGTAAGCCACTGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACTCCCGGATAATTTTTGCATTTTTAGTAGAGATGGGATTTTGCCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCGACCTCCCGAAGTACTGGCATTACAGGTGTGAGCCACCATGCCTGGCCAGAAAATAATTTATTTTACCTTTTATTACTAGTCCCTTCCTAAAATCTCAAATTTCTAAGAGGGGGCTGGGCACACAAGAAGTATTAAAATTTATACCACTAGGAGGCATTGATGGAGTTATCACTGGAAAATGACAAGCATCTGAGCCCAGATATGCAGAACACGAAATATGGAATTTAGCACTTACTTTACTCATCCTAACTTGTCTATGAACATAAAGACTCAGAAAAAGAGATTAGACAGCTCCCAAAGATGGGTTTGAGCCAGCTCTGTCACACACTATCTGTGCAAGCTTTGCCAGGCCCTTCACCATCATGGGCCTTAGCATCCCCTTGCATGAAGAGAAGGGCTTGAACTACATGAGCCCTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGGGTCCCACTCTGTGGCCTAGTGCAGTGCAATGGCATGATCATAGCTCACTGCCTCCTCCAACTCCTGGACATGAGTGATCCTCCTACCTCAGCTTCCTGAGTAGCTAGAACTATAGGTGTGTGCCACCATGCCTGTTTAGTTTAGTTTAGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGAAGTGTAATGGCACATGTCTAGTTTTTTAAATTTTTGTAGGGATGGGATCTCACTTTGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGTGATCCTCCCGACTCTGCCTCCCAAAGCATTGGGATTTACAGGCGTGAGCCACAACACCCAATCCCCATAAGCCTTTTCAATGTCAGCCTTCAACTGATCAAAGGACATGACATTATGTTTCAAAATATTGATAACATGCACAAGGAATAAGTGAATAGAGAGGGAGAAAAAGCTCATTAAATCTATCTCCAAGAATAGAGATATTAGGCCAGGTGCAGTGGCTGACACCTGTAATCCCAAAAATTTGAGAGGCCGAGGCAGGTCGATCTACTAAAATACAAAAAAATAGCCAGGCATGGTGGCATGGGCCTGTAATCCCAGCTACTTGGAAGGTTGTGACTAAGAATCGCTTGA | GAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGACACCACACCTGGAAAGAATGACCCTGGCCACCAACTCTACCCTCACCCTAACAGTGTCCCTCAGTAAAATCTCTACTGGAAATGGAAGTGGCATGGCCTACCTGACTTTAGTAGTGAACTGGACGCCGGTCTTGATGACGAGGGGCCGGTCAGGATGCATGGGCTTGCAGGGCTGCCGCTCCACCACAAAGGCACTGAGGAAAGAGAAGATGGGCTCACGCGCCACGGCCATGACCAGAAGTCAGCCCGCCTCTCACTCTACCACGTGAGTCTTTAGGTATTTTTTAGATGAGGGAAAGGGACAAGGATGCTAAATTACCTTTTCATTAAGTTTCTAAACAGCTCCACGATTCTCTCCTCCAGCATCGGCCGGTGCTGTACAATGGGGTCCCCTTTGTAGGAAACTTTTTGCTGCAACTCCTCCAGTTTCTTAATTTGTTGACGGGTCTGAAGTTGAGATTCTGCTAATGACGTTATCCTGCCAATAAATTAAGAAAGATGCTAATTACCAAAGTGAATGTATACAGGTGAGATGGAGAAGGGGAAGGAAATACTGAAGACATGGAGACCACTACAATAAGAACAAGGAATTTTTTTATTGTGGTGAAATATATATAGCATGAAATTTACAATTTTTCATCTTAAGTTTACAGTTCAGTGACATTAAGAAAAGAGGAATTTTTCACCATGTTGGGTGGATGCTGAAAAAATAAATAAAAAAAGAAAATAATTTATTTATTTATTTATTTTTTGAGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATTTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCCTGAGAGATTACAGGTGTAAGCCACTGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACTCCCGGATAATTTTTGCATTTTTAGTAGAGATGGGATTTTGCCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCGACCTCCCGAAGTACTGGCATTACAGGTGTGAGCCACCATGCCTGGCCAGAAAATAATTTATTTTACCTTTTATTACTAGTCCCTTCCTAAAATCTCAAATTTCTAAGAGGGGGCTGGGCACACAAGAAGTATTAAAATTTATACCACTAGGAGGCATTGATGGAGTTATCACTGGAAAATGACAAGCATCTGAGCCCAGATATGCAGAACACGAAATATGGAATTTAGCACTTACTTTACTCATCCTAACTTGTCTATGAACATAAAGACTCAGAAAAAGAGATTAGACAGCTCCCAAAGATGGGTTTGAGCCAGCTCTGTCACACACTATCTGTGCAAGCTTTGCCAGGCCCTTCACCATCATGGGCCTTAGCATCCCCTTGCATGAAGAGAAGGGCTTGAACTACATGAGCCCTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGGGTCCCACTCTGTGGCCTAGTGCAGTGCAATGGCATGATCATAGCTCACTGCCTCCTCCAACTCCTGGACATGAGTGATCCTCCTACCTCAGCTTCCTGAGTAGCTAGAACTATAGGTGTGTGCCACCATGCCTGTTTAGTTTAGTTTAGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGAAGTGTAATGGCACATGTCTAGTTTTTTAAATTTTTGTAGGGATGGGATCTCACTTTGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGTGATCCTCCCGACTCTGCCTCCCAAAGCATTGGGATTTACAGGCGTGAGCCACAACACCCAATCCCCATAAGCCTTTTCAATGTCAGCCTTCAACTGATCAAAGGACATGACATTATGTTTCAAAATATTGATAACATGCACAAGGAATAAGTGAATAGAGAGGGAGAAAAAGCTCATTAAATCTATCTCCAAGAATAGAGATATTAGGCCAGGTGCAGTGGCTGACACCTGTAATCCCAAAAATTTGAGAGGCCGAGGCAGGTCGATCTACTAAAATACAAAAAAATAGCCAGGCATGGTGGCATGGGCCTGTAATCCCAGCTACTTGGAAGGTTGTGACTAAGAATCGCTTGA |
Task1_train_24423 | Consider a variant on Chromosome 17 in gene STAT3 (signal transducer and activator of transcription 3). Determine its clinical classification and disease relevance. | Pathogenic; STAT3 gain of function | GAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGACACCACACCTGGAAAGAATGACCCTGGCCACCAACTCTACCCTCACCCTAACAGTGTCCCTCAGTAAAATCTCTACTGGAAATGGAAGTGGCATGGCCTACCTGACTTTAGTAGTGAACTGGACGCCGGTCTTGATGACGAGGGGCCGGTCAGGATGCATGGGCATGCAGGGCTGCCGCTCCACCACAAAGGCACTGAGGAAAGAGAAGATGGGCTCACGCGCCACGGCCATGACCAGAAGTCAGCCCGCCTCTCACTCTACCACGTGAGTCTTTAGGTATTTTTTAGATGAGGGAAAGGGACAAGGATGCTAAATTACCTTTTCATTAAGTTTCTAAACAGCTCCACGATTCTCTCCTCCAGCATCGGCCGGTGCTGTACAATGGGGTCCCCTTTGTAGGAAACTTTTTGCTGCAACTCCTCCAGTTTCTTAATTTGTTGACGGGTCTGAAGTTGAGATTCTGCTAATGACGTTATCCTGCCAATAAATTAAGAAAGATGCTAATTACCAAAGTGAATGTATACAGGTGAGATGGAGAAGGGGAAGGAAATACTGAAGACATGGAGACCACTACAATAAGAACAAGGAATTTTTTTATTGTGGTGAAATATATATAGCATGAAATTTACAATTTTTCATCTTAAGTTTACAGTTCAGTGACATTAAGAAAAGAGGAATTTTTCACCATGTTGGGTGGATGCTGAAAAAATAAATAAAAAAAGAAAATAATTTATTTATTTATTTATTTTTTGAGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATTTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCCTGAGAGATTACAGGTGTAAGCCACTGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACTCCCGGATAATTTTTGCATTTTTAGTAGAGATGGGATTTTGCCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCGACCTCCCGAAGTACTGGCATTACAGGTGTGAGCCACCATGCCTGGCCAGAAAATAATTTATTTTACCTTTTATTACTAGTCCCTTCCTAAAATCTCAAATTTCTAAGAGGGGGCTGGGCACACAAGAAGTATTAAAATTTATACCACTAGGAGGCATTGATGGAGTTATCACTGGAAAATGACAAGCATCTGAGCCCAGATATGCAGAACACGAAATATGGAATTTAGCACTTACTTTACTCATCCTAACTTGTCTATGAACATAAAGACTCAGAAAAAGAGATTAGACAGCTCCCAAAGATGGGTTTGAGCCAGCTCTGTCACACACTATCTGTGCAAGCTTTGCCAGGCCCTTCACCATCATGGGCCTTAGCATCCCCTTGCATGAAGAGAAGGGCTTGAACTACATGAGCCCTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGGGTCCCACTCTGTGGCCTAGTGCAGTGCAATGGCATGATCATAGCTCACTGCCTCCTCCAACTCCTGGACATGAGTGATCCTCCTACCTCAGCTTCCTGAGTAGCTAGAACTATAGGTGTGTGCCACCATGCCTGTTTAGTTTAGTTTAGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGAAGTGTAATGGCACATGTCTAGTTTTTTAAATTTTTGTAGGGATGGGATCTCACTTTGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGTGATCCTCCCGACTCTGCCTCCCAAAGCATTGGGATTTACAGGCGTGAGCCACAACACCCAATCCCCATAAGCCTTTTCAATGTCAGCCTTCAACTGATCAAAGGACATGACATTATGTTTCAAAATATTGATAACATGCACAAGGAATAAGTGAATAGAGAGGGAGAAAAAGCTCATTAAATCTATCTCCAAGAATAGAGATATTAGGCCAGGTGCAGTGGCTGACACCTGTAATCCCAAAAATTTGAGAGGCCGAGGCAGGTCGATCTACTAAAATACAAAAAAATAGCCAGGCATGGTGGCATGGGCCTGTAATCCCAGCTACTTGGAAGGTTGTGACTAAGAATCGCTTGA | GAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGACACCACACCTGGAAAGAATGACCCTGGCCACCAACTCTACCCTCACCCTAACAGTGTCCCTCAGTAAAATCTCTACTGGAAATGGAAGTGGCATGGCCTACCTGACTTTAGTAGTGAACTGGACGCCGGTCTTGATGACGAGGGGCCGGTCAGGATGCATGGGCTTGCAGGGCTGCCGCTCCACCACAAAGGCACTGAGGAAAGAGAAGATGGGCTCACGCGCCACGGCCATGACCAGAAGTCAGCCCGCCTCTCACTCTACCACGTGAGTCTTTAGGTATTTTTTAGATGAGGGAAAGGGACAAGGATGCTAAATTACCTTTTCATTAAGTTTCTAAACAGCTCCACGATTCTCTCCTCCAGCATCGGCCGGTGCTGTACAATGGGGTCCCCTTTGTAGGAAACTTTTTGCTGCAACTCCTCCAGTTTCTTAATTTGTTGACGGGTCTGAAGTTGAGATTCTGCTAATGACGTTATCCTGCCAATAAATTAAGAAAGATGCTAATTACCAAAGTGAATGTATACAGGTGAGATGGAGAAGGGGAAGGAAATACTGAAGACATGGAGACCACTACAATAAGAACAAGGAATTTTTTTATTGTGGTGAAATATATATAGCATGAAATTTACAATTTTTCATCTTAAGTTTACAGTTCAGTGACATTAAGAAAAGAGGAATTTTTCACCATGTTGGGTGGATGCTGAAAAAATAAATAAAAAAAGAAAATAATTTATTTATTTATTTATTTTTTGAGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATTTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCCTGAGAGATTACAGGTGTAAGCCACTGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACTCCCGGATAATTTTTGCATTTTTAGTAGAGATGGGATTTTGCCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCGACCTCCCGAAGTACTGGCATTACAGGTGTGAGCCACCATGCCTGGCCAGAAAATAATTTATTTTACCTTTTATTACTAGTCCCTTCCTAAAATCTCAAATTTCTAAGAGGGGGCTGGGCACACAAGAAGTATTAAAATTTATACCACTAGGAGGCATTGATGGAGTTATCACTGGAAAATGACAAGCATCTGAGCCCAGATATGCAGAACACGAAATATGGAATTTAGCACTTACTTTACTCATCCTAACTTGTCTATGAACATAAAGACTCAGAAAAAGAGATTAGACAGCTCCCAAAGATGGGTTTGAGCCAGCTCTGTCACACACTATCTGTGCAAGCTTTGCCAGGCCCTTCACCATCATGGGCCTTAGCATCCCCTTGCATGAAGAGAAGGGCTTGAACTACATGAGCCCTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGGGTCCCACTCTGTGGCCTAGTGCAGTGCAATGGCATGATCATAGCTCACTGCCTCCTCCAACTCCTGGACATGAGTGATCCTCCTACCTCAGCTTCCTGAGTAGCTAGAACTATAGGTGTGTGCCACCATGCCTGTTTAGTTTAGTTTAGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGAAGTGTAATGGCACATGTCTAGTTTTTTAAATTTTTGTAGGGATGGGATCTCACTTTGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGTGATCCTCCCGACTCTGCCTCCCAAAGCATTGGGATTTACAGGCGTGAGCCACAACACCCAATCCCCATAAGCCTTTTCAATGTCAGCCTTCAACTGATCAAAGGACATGACATTATGTTTCAAAATATTGATAACATGCACAAGGAATAAGTGAATAGAGAGGGAGAAAAAGCTCATTAAATCTATCTCCAAGAATAGAGATATTAGGCCAGGTGCAGTGGCTGACACCTGTAATCCCAAAAATTTGAGAGGCCGAGGCAGGTCGATCTACTAAAATACAAAAAAATAGCCAGGCATGGTGGCATGGGCCTGTAATCCCAGCTACTTGGAAGGTTGTGACTAAGAATCGCTTGA |
Task1_train_24424 | A variant was discovered in gene STAT3 (signal transducer and activator of transcription 3), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | AGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGACACCACACCTGGAAAGAATGACCCTGGCCACCAACTCTACCCTCACCCTAACAGTGTCCCTCAGTAAAATCTCTACTGGAAATGGAAGTGGCATGGCCTACCTGACTTTAGTAGTGAACTGGACGCCGGTCTTGATGACGAGGGGCCGGTCAGGATGCATGGGCATGCAGGGCTGCCGCTCCACCACAAAGGCACTGAGGAAAGAGAAGATGGGCTCACGCGCCACGGCCATGACCAGAAGTCAGCCCGCCTCTCACTCTACCACGTGAGTCTTTAGGTATTTTTTAGATGAGGGAAAGGGACAAGGATGCTAAATTACCTTTTCATTAAGTTTCTAAACAGCTCCACGATTCTCTCCTCCAGCATCGGCCGGTGCTGTACAATGGGGTCCCCTTTGTAGGAAACTTTTTGCTGCAACTCCTCCAGTTTCTTAATTTGTTGACGGGTCTGAAGTTGAGATTCTGCTAATGACGTTATCCTGCCAATAAATTAAGAAAGATGCTAATTACCAAAGTGAATGTATACAGGTGAGATGGAGAAGGGGAAGGAAATACTGAAGACATGGAGACCACTACAATAAGAACAAGGAATTTTTTTATTGTGGTGAAATATATATAGCATGAAATTTACAATTTTTCATCTTAAGTTTACAGTTCAGTGACATTAAGAAAAGAGGAATTTTTCACCATGTTGGGTGGATGCTGAAAAAATAAATAAAAAAAGAAAATAATTTATTTATTTATTTATTTTTTGAGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATTTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCCTGAGAGATTACAGGTGTAAGCCACTGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACTCCCGGATAATTTTTGCATTTTTAGTAGAGATGGGATTTTGCCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCGACCTCCCGAAGTACTGGCATTACAGGTGTGAGCCACCATGCCTGGCCAGAAAATAATTTATTTTACCTTTTATTACTAGTCCCTTCCTAAAATCTCAAATTTCTAAGAGGGGGCTGGGCACACAAGAAGTATTAAAATTTATACCACTAGGAGGCATTGATGGAGTTATCACTGGAAAATGACAAGCATCTGAGCCCAGATATGCAGAACACGAAATATGGAATTTAGCACTTACTTTACTCATCCTAACTTGTCTATGAACATAAAGACTCAGAAAAAGAGATTAGACAGCTCCCAAAGATGGGTTTGAGCCAGCTCTGTCACACACTATCTGTGCAAGCTTTGCCAGGCCCTTCACCATCATGGGCCTTAGCATCCCCTTGCATGAAGAGAAGGGCTTGAACTACATGAGCCCTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGGGTCCCACTCTGTGGCCTAGTGCAGTGCAATGGCATGATCATAGCTCACTGCCTCCTCCAACTCCTGGACATGAGTGATCCTCCTACCTCAGCTTCCTGAGTAGCTAGAACTATAGGTGTGTGCCACCATGCCTGTTTAGTTTAGTTTAGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGAAGTGTAATGGCACATGTCTAGTTTTTTAAATTTTTGTAGGGATGGGATCTCACTTTGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGTGATCCTCCCGACTCTGCCTCCCAAAGCATTGGGATTTACAGGCGTGAGCCACAACACCCAATCCCCATAAGCCTTTTCAATGTCAGCCTTCAACTGATCAAAGGACATGACATTATGTTTCAAAATATTGATAACATGCACAAGGAATAAGTGAATAGAGAGGGAGAAAAAGCTCATTAAATCTATCTCCAAGAATAGAGATATTAGGCCAGGTGCAGTGGCTGACACCTGTAATCCCAAAAATTTGAGAGGCCGAGGCAGGTCGATCTACTAAAATACAAAAAAATAGCCAGGCATGGTGGCATGGGCCTGTAATCCCAGCTACTTGGAAGGTTGTGACTAAGAATCGCTTGAA | AGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGACACCACACCTGGAAAGAATGACCCTGGCCACCAACTCTACCCTCACCCTAACAGTGTCCCTCAGTAAAATCTCTACTGGAAATGGAAGTGGCATGGCCTACCTGACTTTAGTAGTGAACTGGACGCCGGTCTTGATGACGAGGGGCCGGTCAGGATGCATGGGCACGCAGGGCTGCCGCTCCACCACAAAGGCACTGAGGAAAGAGAAGATGGGCTCACGCGCCACGGCCATGACCAGAAGTCAGCCCGCCTCTCACTCTACCACGTGAGTCTTTAGGTATTTTTTAGATGAGGGAAAGGGACAAGGATGCTAAATTACCTTTTCATTAAGTTTCTAAACAGCTCCACGATTCTCTCCTCCAGCATCGGCCGGTGCTGTACAATGGGGTCCCCTTTGTAGGAAACTTTTTGCTGCAACTCCTCCAGTTTCTTAATTTGTTGACGGGTCTGAAGTTGAGATTCTGCTAATGACGTTATCCTGCCAATAAATTAAGAAAGATGCTAATTACCAAAGTGAATGTATACAGGTGAGATGGAGAAGGGGAAGGAAATACTGAAGACATGGAGACCACTACAATAAGAACAAGGAATTTTTTTATTGTGGTGAAATATATATAGCATGAAATTTACAATTTTTCATCTTAAGTTTACAGTTCAGTGACATTAAGAAAAGAGGAATTTTTCACCATGTTGGGTGGATGCTGAAAAAATAAATAAAAAAAGAAAATAATTTATTTATTTATTTATTTTTTGAGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATTTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCCTGAGAGATTACAGGTGTAAGCCACTGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACTCCCGGATAATTTTTGCATTTTTAGTAGAGATGGGATTTTGCCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCGACCTCCCGAAGTACTGGCATTACAGGTGTGAGCCACCATGCCTGGCCAGAAAATAATTTATTTTACCTTTTATTACTAGTCCCTTCCTAAAATCTCAAATTTCTAAGAGGGGGCTGGGCACACAAGAAGTATTAAAATTTATACCACTAGGAGGCATTGATGGAGTTATCACTGGAAAATGACAAGCATCTGAGCCCAGATATGCAGAACACGAAATATGGAATTTAGCACTTACTTTACTCATCCTAACTTGTCTATGAACATAAAGACTCAGAAAAAGAGATTAGACAGCTCCCAAAGATGGGTTTGAGCCAGCTCTGTCACACACTATCTGTGCAAGCTTTGCCAGGCCCTTCACCATCATGGGCCTTAGCATCCCCTTGCATGAAGAGAAGGGCTTGAACTACATGAGCCCTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGGGTCCCACTCTGTGGCCTAGTGCAGTGCAATGGCATGATCATAGCTCACTGCCTCCTCCAACTCCTGGACATGAGTGATCCTCCTACCTCAGCTTCCTGAGTAGCTAGAACTATAGGTGTGTGCCACCATGCCTGTTTAGTTTAGTTTAGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGAAGTGTAATGGCACATGTCTAGTTTTTTAAATTTTTGTAGGGATGGGATCTCACTTTGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGTGATCCTCCCGACTCTGCCTCCCAAAGCATTGGGATTTACAGGCGTGAGCCACAACACCCAATCCCCATAAGCCTTTTCAATGTCAGCCTTCAACTGATCAAAGGACATGACATTATGTTTCAAAATATTGATAACATGCACAAGGAATAAGTGAATAGAGAGGGAGAAAAAGCTCATTAAATCTATCTCCAAGAATAGAGATATTAGGCCAGGTGCAGTGGCTGACACCTGTAATCCCAAAAATTTGAGAGGCCGAGGCAGGTCGATCTACTAAAATACAAAAAAATAGCCAGGCATGGTGGCATGGGCCTGTAATCCCAGCTACTTGGAAGGTTGTGACTAAGAATCGCTTGAA |
Task1_train_24425 | This alteration in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | CCGAAATAAAGTAAAAACTTTAATTCTTGGGCTAAATTTGAATATGGAAAAGTCCCCACGTTGGAGATATAGTACCAATTCTGTGGGCCTGCAGTTAAGATCAGAATTCAATCTAGCTTTCGAGAAAGAAAGGAAAAGCTTCTTTCATCCTTTACCAGTTTTCTAGCCGATCTAGGCAGATGTTGGGCGGGCCTCCAATGCAGGCAATCTGTTGCCGCCTCTTCCAGTCAGCCAGCTCCTCGTCCGTGAGAGTTTTCTGCACGTACTCCATCGCTGACAAAAGCCCCGCCAGCTCACTCACGATGCTCTGGTTGGAAACCAAAACAAAGTCAGAAAACATTTCCTCAGACTGTCTCTAACCACATTCTTTAGTCAACTCCAGAGCAGGAACTTCTTAGAAACCAAGCAAGTTCTGCCACAAGACGCTGAAATCCCGCAAGTGAGCGAGACACATGGGGGAAGTGGTCCGACCTATGCCCTTACTCTCCGCATCTGGTCCAGCGCAGTGAGCATCTGTTCCAGCTGCTGCATCTTCTGCCTGGTCACTGACTGGTTGTTTCCATTCAGATCTTGCATGTCTGCGAAGGAAGAAAAAACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGTCCTTAATGACCAGGCTCCTTTGAGGACCCGTACCTCCCTTGCGCCCCGCCCGCCTTAAGATCTAAACAGAGTTAAGACAAATGAGTCTTTCAACTCAACAACACAAACTCACTTTCTAGAGATTTTAACATCTCTAATATTCACTTGCCTCCTTGACTCTTGAGGGTTTTATAGTTGAAATCAAAGTCATCCTGGAGATTCTCTACCACTTTCATTTTCTGTTCTAGATCCTGTTTAAAATAAGCAAACAAAAAAACAGAAGTAAAGAAAGATTTCCTTGGGAACAGAAAATATAAAGTTTCTGAGGAGAATTCAAATGAAGCCAAAACCTCAAAAAAGATACATGCAGGACCTGCAGGCAGTATCCCCAAGAGAAGGCTCCCTGTTGGCCAGGTGCAGTGGCTCACGCCTGTAATGCCAGCACTTTGAGAGGCTGAGTTGGGAGGATCACTTGAGCCCAGGAGTTCATGATCAGCCTGGACAACACAGGGAGACCCCCATCTCTACAAATTTTTTTTTTTTAATTAGCTGGGCGTGGTGGTGCATGCCTGTGGTCCCGGCTACTTGGGAGGATGAGGTAGGAGGATCGCTTGGGCCTGAGAGGTCGAGGCTGCAGTGAGCTGTGATCATGCCACTGCAGCCCAGCCTGAGTGGCAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAATTAATGAAAGCTCCCTGCCCGAGGCTTGTAACTTGCATCACCTGCACTCTCTTCCGGACATCCTGAAGGTGCTGCTCCAGCATCTGCTGCTTCTCCGTCACCACGGCTGCTGTGGGGTGGTTGGCCTGGCCCCCTTGCTGCCAAAAAGGAGGTCAATGCACATGTGAACACAGAACTATGGGGAGAGGAATACCTCTACCCAGCTTCCATCCCACCCTAACTACCCTTCTTGTTTGGCTTGAGACGCTGCTGCCATCACAAGAGGAAGGGAAACAGAGGCAGTGGTGCTGTCACTACACAGGTGACACTACACAGGTCATACCATAAACCCCCTTTATGGCACTAAGAGACCACATGTTCAGCTAAGACATGGTCTATGCCTTCAAAAACCTCATGGGCAAGTATGTCAAAAAATTCAAAACAATTTATGACAGCAGATGTTGGATGTCTACTTAAACGTGGTGTCCAGTATATTTCTGAGGGATAATAAAAAAAAAGTCCTGCCCTAGGGATGAAATTCCATATTAAAAGATATTATCTTGGGGAGAAGGGGAGGCTGGTACCTTGGAAAATGTCAAATAGCACATGGAAAAAGAAAAAGAAGAAAGAAGGCTGGATGTAGCAGCTCACACCTATAATATCAGCACTTGGGAAGGCTGAAGTGGGAGGACTGCTTGAGGCCAGGAGTTCAAAACTAGCCTAGTCAACATAGTGAGGCCCCATCTCGAATGAATAAATGAATGAATGAATTAAAGAAATAACAAAAAATAAATAGCATATGAAACTTAAAAATTACAGGTTCGTGCCAGGTGCGGTGGCTGATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATTACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCGACACGGAGAAACCCATCTCTACTAAAAATACAAAGTTAGCTGAGCTTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATCGCCTGAACCCGGGAGGTGGAGGTTGTGGTGAGCCAAGACTGCGCCATGCACTCCAGCCTGAGCAACAAAAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAATTACAGGCTTGGGCTAGGCATGGTAGCTCCCACCTATAATCCTAGCACTTTGGGAAACCAAGGCAGGAGGATCACTTGAGGCTGGGAGTTTGAGACCGGCCCAGGGAACATAGAAAGAGACCTCATCTCAACCAAAAAAAAAAAAAAATTTTTTTTTAACTAGCTGGGCATGGTGGCATATACCTGTAGTTCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCATTTAAGTCCAGAAGTTTGAGGCCACACTACAGCCAGTTTTATGGGCAACCATTCTCTTCCTTTCCCATGGTCCCTATCCAAGCCCACAGAATACAAACTTCTTAGAAGTTTTGGGAAGGTGACCCATGCCCCTACTTCTTCCCACAGTGACAGTGACTCATCTGATTGGTAAGATGGAGAGAAAGACTCTGTGTACACACAGATCTTCAAAGAACCCAGCACCTAAGCTGGTGCCTCCCTCCTCTCACTCTTGCCTTCCTAGGGCCCACCATAAGCAAGAGCAGCAGCCTGGTTTCTAGAAGCAGGTCTAGAGGCCTATCCCTCTGCCTTGTTGGTCTATGGCAGCTGAAGCTCCATATGGATGGCTGGGGTGGGGTGGGGGTGCTGCTCTGCACATCCAGTCTCTCTACCCCAAGATCTAACTCAGGGCACAGGCATTGGAAAGCCCCTATGGTTACCAGCTCAAGCCACACTTTCCATTCTAGTTTTACCAACAATACAGCTGATGTTTTAACCTTCATTCCTTTCTCATGTCTATTTCTCAAGCAGGACTACACTTAAAGGGAGAAAACATGATTAACGATCACCCACAGAAACCCACCTCTAATACCTTCGTAAAAAACTGTATTGGCTCCCCACTGCTTCCAGCTATAAACATCTCAGGCCAACACAGAAAGCTGTTTCACACAATTGATAACTTCAACTTTCCCTCCCTGTGCCTTGGTCACCCCAGACTCCCAACTCTTCCCTGCATGCAGTGTGTTTCCACACTCTCTTC | CCGAAATAAAGTAAAAACTTTAATTCTTGGGCTAAATTTGAATATGGAAAAGTCCCCACGTTGGAGATATAGTACCAATTCTGTGGGCCTGCAGTTAAGATCAGAATTCAATCTAGCTTTCGAGAAAGAAAGGAAAAGCTTCTTTCATCCTTTACCAGTTTTCTAGCCGATCTAGGCAGATGTTGGGCGGGCCTCCAATGCAGGCAATCTGTTGCCGCCTCTTCCAGTCAGCCAGCTCCTCGTCCGTGAGAGTTTTCTGCACGTACTCCATCGCTGACAAAAGCCCCGCCAGCTCACTCACGATGCTCTGGTTGGAAACCAAAACAAAGTCAGAAAACATTTCCTCAGACTGTCTCTAACCACATTCTTTAGTCAACTCCAGAGCAGGAACTTCTTAGAAACCAAGCAAGTTCTGCCACAAGACGCTGAAATCCCGCAAGTGAGCGAGACACATGGGGGAAGTGGTCCGACCTATGCCCTTACTCTCCGCATCTGGTCCAGCGCAGTGAGCATCTGTTCCAGCTGCTGCATCTTCTGCCTGGTCACTGACTGGTTGTTTCCATTCAGATCTTGCATGTCTGCGAAGGAAGAAAAAACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGTCCTTAATGACCAGGCTCCTTTGAGGACCCGTACCTCCCTTGCGCCCCGCCCGCCTTAAGATCTAAACAGAGTTAAGACAAATGAGTCTTTCAACTCAACAACACAAACTCACTTTCTAGAGATTTTAACATCTCTAATATTCACTTGCCTCCTTGACTCTTGAGGGTTTTATAGTTGAAATCAAAGTCATCCTGGAGATTCTCTACCACTTTCATTTTCTGTTCTAGATCCTGTTTAAAATAAGCAAACAAAAAAACAGAAGTAAAGAAAGATTTCCTTGGGAACAGAAAATATAAAGTTTCTGAGGAGAATTCAAATGAAGCCAAAACCTCAAAAAAGATACATGCAGGACCTGCAGGCAGTATCCCCAAGAGAAGGCTCCCTGTTGGCCAGGTGCAGTGGCTCACGCCTGTAATGCCAGCACTTTGAGAGGCTGAGTTGGGAGGATCACTTGAGCCCAGGAGTTCATGATCAGCCTGGACAACACAGGGAGACCCCCATCTCTACAAATTTTTTTTTTTTAATTAGCTGGGCGTGGTGGTGCATGCCTGTGGTCCCGGCTACTTGGGAGGATGAGGTAGGAGGATCGCTTGGGCCTGAGAGGTCGAGGCTGCAGTGAGCTGTGATCATGCCACTGCAGCCCAGCCTGAGTGGCAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAATTAATGAAAGCTCCCTGCCCGAGGCTTGTAACTTGCATCACCTGCACTCTCTTCCAGACATCCTGAAGGTGCTGCTCCAGCATCTGCTGCTTCTCCGTCACCACGGCTGCTGTGGGGTGGTTGGCCTGGCCCCCTTGCTGCCAAAAAGGAGGTCAATGCACATGTGAACACAGAACTATGGGGAGAGGAATACCTCTACCCAGCTTCCATCCCACCCTAACTACCCTTCTTGTTTGGCTTGAGACGCTGCTGCCATCACAAGAGGAAGGGAAACAGAGGCAGTGGTGCTGTCACTACACAGGTGACACTACACAGGTCATACCATAAACCCCCTTTATGGCACTAAGAGACCACATGTTCAGCTAAGACATGGTCTATGCCTTCAAAAACCTCATGGGCAAGTATGTCAAAAAATTCAAAACAATTTATGACAGCAGATGTTGGATGTCTACTTAAACGTGGTGTCCAGTATATTTCTGAGGGATAATAAAAAAAAAGTCCTGCCCTAGGGATGAAATTCCATATTAAAAGATATTATCTTGGGGAGAAGGGGAGGCTGGTACCTTGGAAAATGTCAAATAGCACATGGAAAAAGAAAAAGAAGAAAGAAGGCTGGATGTAGCAGCTCACACCTATAATATCAGCACTTGGGAAGGCTGAAGTGGGAGGACTGCTTGAGGCCAGGAGTTCAAAACTAGCCTAGTCAACATAGTGAGGCCCCATCTCGAATGAATAAATGAATGAATGAATTAAAGAAATAACAAAAAATAAATAGCATATGAAACTTAAAAATTACAGGTTCGTGCCAGGTGCGGTGGCTGATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATTACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCGACACGGAGAAACCCATCTCTACTAAAAATACAAAGTTAGCTGAGCTTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATCGCCTGAACCCGGGAGGTGGAGGTTGTGGTGAGCCAAGACTGCGCCATGCACTCCAGCCTGAGCAACAAAAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAATTACAGGCTTGGGCTAGGCATGGTAGCTCCCACCTATAATCCTAGCACTTTGGGAAACCAAGGCAGGAGGATCACTTGAGGCTGGGAGTTTGAGACCGGCCCAGGGAACATAGAAAGAGACCTCATCTCAACCAAAAAAAAAAAAAAATTTTTTTTTAACTAGCTGGGCATGGTGGCATATACCTGTAGTTCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCATTTAAGTCCAGAAGTTTGAGGCCACACTACAGCCAGTTTTATGGGCAACCATTCTCTTCCTTTCCCATGGTCCCTATCCAAGCCCACAGAATACAAACTTCTTAGAAGTTTTGGGAAGGTGACCCATGCCCCTACTTCTTCCCACAGTGACAGTGACTCATCTGATTGGTAAGATGGAGAGAAAGACTCTGTGTACACACAGATCTTCAAAGAACCCAGCACCTAAGCTGGTGCCTCCCTCCTCTCACTCTTGCCTTCCTAGGGCCCACCATAAGCAAGAGCAGCAGCCTGGTTTCTAGAAGCAGGTCTAGAGGCCTATCCCTCTGCCTTGTTGGTCTATGGCAGCTGAAGCTCCATATGGATGGCTGGGGTGGGGTGGGGGTGCTGCTCTGCACATCCAGTCTCTCTACCCCAAGATCTAACTCAGGGCACAGGCATTGGAAAGCCCCTATGGTTACCAGCTCAAGCCACACTTTCCATTCTAGTTTTACCAACAATACAGCTGATGTTTTAACCTTCATTCCTTTCTCATGTCTATTTCTCAAGCAGGACTACACTTAAAGGGAGAAAACATGATTAACGATCACCCACAGAAACCCACCTCTAATACCTTCGTAAAAAACTGTATTGGCTCCCCACTGCTTCCAGCTATAAACATCTCAGGCCAACACAGAAAGCTGTTTCACACAATTGATAACTTCAACTTTCCCTCCCTGTGCCTTGGTCACCCCAGACTCCCAACTCTTCCCTGCATGCAGTGTGTTTCCACACTCTCTTC |
Task1_train_24426 | This mutation occurs in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; STAT3 gain of function | CCGAAATAAAGTAAAAACTTTAATTCTTGGGCTAAATTTGAATATGGAAAAGTCCCCACGTTGGAGATATAGTACCAATTCTGTGGGCCTGCAGTTAAGATCAGAATTCAATCTAGCTTTCGAGAAAGAAAGGAAAAGCTTCTTTCATCCTTTACCAGTTTTCTAGCCGATCTAGGCAGATGTTGGGCGGGCCTCCAATGCAGGCAATCTGTTGCCGCCTCTTCCAGTCAGCCAGCTCCTCGTCCGTGAGAGTTTTCTGCACGTACTCCATCGCTGACAAAAGCCCCGCCAGCTCACTCACGATGCTCTGGTTGGAAACCAAAACAAAGTCAGAAAACATTTCCTCAGACTGTCTCTAACCACATTCTTTAGTCAACTCCAGAGCAGGAACTTCTTAGAAACCAAGCAAGTTCTGCCACAAGACGCTGAAATCCCGCAAGTGAGCGAGACACATGGGGGAAGTGGTCCGACCTATGCCCTTACTCTCCGCATCTGGTCCAGCGCAGTGAGCATCTGTTCCAGCTGCTGCATCTTCTGCCTGGTCACTGACTGGTTGTTTCCATTCAGATCTTGCATGTCTGCGAAGGAAGAAAAAACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGTCCTTAATGACCAGGCTCCTTTGAGGACCCGTACCTCCCTTGCGCCCCGCCCGCCTTAAGATCTAAACAGAGTTAAGACAAATGAGTCTTTCAACTCAACAACACAAACTCACTTTCTAGAGATTTTAACATCTCTAATATTCACTTGCCTCCTTGACTCTTGAGGGTTTTATAGTTGAAATCAAAGTCATCCTGGAGATTCTCTACCACTTTCATTTTCTGTTCTAGATCCTGTTTAAAATAAGCAAACAAAAAAACAGAAGTAAAGAAAGATTTCCTTGGGAACAGAAAATATAAAGTTTCTGAGGAGAATTCAAATGAAGCCAAAACCTCAAAAAAGATACATGCAGGACCTGCAGGCAGTATCCCCAAGAGAAGGCTCCCTGTTGGCCAGGTGCAGTGGCTCACGCCTGTAATGCCAGCACTTTGAGAGGCTGAGTTGGGAGGATCACTTGAGCCCAGGAGTTCATGATCAGCCTGGACAACACAGGGAGACCCCCATCTCTACAAATTTTTTTTTTTTAATTAGCTGGGCGTGGTGGTGCATGCCTGTGGTCCCGGCTACTTGGGAGGATGAGGTAGGAGGATCGCTTGGGCCTGAGAGGTCGAGGCTGCAGTGAGCTGTGATCATGCCACTGCAGCCCAGCCTGAGTGGCAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAATTAATGAAAGCTCCCTGCCCGAGGCTTGTAACTTGCATCACCTGCACTCTCTTCCGGACATCCTGAAGGTGCTGCTCCAGCATCTGCTGCTTCTCCGTCACCACGGCTGCTGTGGGGTGGTTGGCCTGGCCCCCTTGCTGCCAAAAAGGAGGTCAATGCACATGTGAACACAGAACTATGGGGAGAGGAATACCTCTACCCAGCTTCCATCCCACCCTAACTACCCTTCTTGTTTGGCTTGAGACGCTGCTGCCATCACAAGAGGAAGGGAAACAGAGGCAGTGGTGCTGTCACTACACAGGTGACACTACACAGGTCATACCATAAACCCCCTTTATGGCACTAAGAGACCACATGTTCAGCTAAGACATGGTCTATGCCTTCAAAAACCTCATGGGCAAGTATGTCAAAAAATTCAAAACAATTTATGACAGCAGATGTTGGATGTCTACTTAAACGTGGTGTCCAGTATATTTCTGAGGGATAATAAAAAAAAAGTCCTGCCCTAGGGATGAAATTCCATATTAAAAGATATTATCTTGGGGAGAAGGGGAGGCTGGTACCTTGGAAAATGTCAAATAGCACATGGAAAAAGAAAAAGAAGAAAGAAGGCTGGATGTAGCAGCTCACACCTATAATATCAGCACTTGGGAAGGCTGAAGTGGGAGGACTGCTTGAGGCCAGGAGTTCAAAACTAGCCTAGTCAACATAGTGAGGCCCCATCTCGAATGAATAAATGAATGAATGAATTAAAGAAATAACAAAAAATAAATAGCATATGAAACTTAAAAATTACAGGTTCGTGCCAGGTGCGGTGGCTGATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATTACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCGACACGGAGAAACCCATCTCTACTAAAAATACAAAGTTAGCTGAGCTTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATCGCCTGAACCCGGGAGGTGGAGGTTGTGGTGAGCCAAGACTGCGCCATGCACTCCAGCCTGAGCAACAAAAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAATTACAGGCTTGGGCTAGGCATGGTAGCTCCCACCTATAATCCTAGCACTTTGGGAAACCAAGGCAGGAGGATCACTTGAGGCTGGGAGTTTGAGACCGGCCCAGGGAACATAGAAAGAGACCTCATCTCAACCAAAAAAAAAAAAAAATTTTTTTTTAACTAGCTGGGCATGGTGGCATATACCTGTAGTTCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCATTTAAGTCCAGAAGTTTGAGGCCACACTACAGCCAGTTTTATGGGCAACCATTCTCTTCCTTTCCCATGGTCCCTATCCAAGCCCACAGAATACAAACTTCTTAGAAGTTTTGGGAAGGTGACCCATGCCCCTACTTCTTCCCACAGTGACAGTGACTCATCTGATTGGTAAGATGGAGAGAAAGACTCTGTGTACACACAGATCTTCAAAGAACCCAGCACCTAAGCTGGTGCCTCCCTCCTCTCACTCTTGCCTTCCTAGGGCCCACCATAAGCAAGAGCAGCAGCCTGGTTTCTAGAAGCAGGTCTAGAGGCCTATCCCTCTGCCTTGTTGGTCTATGGCAGCTGAAGCTCCATATGGATGGCTGGGGTGGGGTGGGGGTGCTGCTCTGCACATCCAGTCTCTCTACCCCAAGATCTAACTCAGGGCACAGGCATTGGAAAGCCCCTATGGTTACCAGCTCAAGCCACACTTTCCATTCTAGTTTTACCAACAATACAGCTGATGTTTTAACCTTCATTCCTTTCTCATGTCTATTTCTCAAGCAGGACTACACTTAAAGGGAGAAAACATGATTAACGATCACCCACAGAAACCCACCTCTAATACCTTCGTAAAAAACTGTATTGGCTCCCCACTGCTTCCAGCTATAAACATCTCAGGCCAACACAGAAAGCTGTTTCACACAATTGATAACTTCAACTTTCCCTCCCTGTGCCTTGGTCACCCCAGACTCCCAACTCTTCCCTGCATGCAGTGTGTTTCCACACTCTCTTC | CCGAAATAAAGTAAAAACTTTAATTCTTGGGCTAAATTTGAATATGGAAAAGTCCCCACGTTGGAGATATAGTACCAATTCTGTGGGCCTGCAGTTAAGATCAGAATTCAATCTAGCTTTCGAGAAAGAAAGGAAAAGCTTCTTTCATCCTTTACCAGTTTTCTAGCCGATCTAGGCAGATGTTGGGCGGGCCTCCAATGCAGGCAATCTGTTGCCGCCTCTTCCAGTCAGCCAGCTCCTCGTCCGTGAGAGTTTTCTGCACGTACTCCATCGCTGACAAAAGCCCCGCCAGCTCACTCACGATGCTCTGGTTGGAAACCAAAACAAAGTCAGAAAACATTTCCTCAGACTGTCTCTAACCACATTCTTTAGTCAACTCCAGAGCAGGAACTTCTTAGAAACCAAGCAAGTTCTGCCACAAGACGCTGAAATCCCGCAAGTGAGCGAGACACATGGGGGAAGTGGTCCGACCTATGCCCTTACTCTCCGCATCTGGTCCAGCGCAGTGAGCATCTGTTCCAGCTGCTGCATCTTCTGCCTGGTCACTGACTGGTTGTTTCCATTCAGATCTTGCATGTCTGCGAAGGAAGAAAAAACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGTCCTTAATGACCAGGCTCCTTTGAGGACCCGTACCTCCCTTGCGCCCCGCCCGCCTTAAGATCTAAACAGAGTTAAGACAAATGAGTCTTTCAACTCAACAACACAAACTCACTTTCTAGAGATTTTAACATCTCTAATATTCACTTGCCTCCTTGACTCTTGAGGGTTTTATAGTTGAAATCAAAGTCATCCTGGAGATTCTCTACCACTTTCATTTTCTGTTCTAGATCCTGTTTAAAATAAGCAAACAAAAAAACAGAAGTAAAGAAAGATTTCCTTGGGAACAGAAAATATAAAGTTTCTGAGGAGAATTCAAATGAAGCCAAAACCTCAAAAAAGATACATGCAGGACCTGCAGGCAGTATCCCCAAGAGAAGGCTCCCTGTTGGCCAGGTGCAGTGGCTCACGCCTGTAATGCCAGCACTTTGAGAGGCTGAGTTGGGAGGATCACTTGAGCCCAGGAGTTCATGATCAGCCTGGACAACACAGGGAGACCCCCATCTCTACAAATTTTTTTTTTTTAATTAGCTGGGCGTGGTGGTGCATGCCTGTGGTCCCGGCTACTTGGGAGGATGAGGTAGGAGGATCGCTTGGGCCTGAGAGGTCGAGGCTGCAGTGAGCTGTGATCATGCCACTGCAGCCCAGCCTGAGTGGCAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAATTAATGAAAGCTCCCTGCCCGAGGCTTGTAACTTGCATCACCTGCACTCTCTTCCAGACATCCTGAAGGTGCTGCTCCAGCATCTGCTGCTTCTCCGTCACCACGGCTGCTGTGGGGTGGTTGGCCTGGCCCCCTTGCTGCCAAAAAGGAGGTCAATGCACATGTGAACACAGAACTATGGGGAGAGGAATACCTCTACCCAGCTTCCATCCCACCCTAACTACCCTTCTTGTTTGGCTTGAGACGCTGCTGCCATCACAAGAGGAAGGGAAACAGAGGCAGTGGTGCTGTCACTACACAGGTGACACTACACAGGTCATACCATAAACCCCCTTTATGGCACTAAGAGACCACATGTTCAGCTAAGACATGGTCTATGCCTTCAAAAACCTCATGGGCAAGTATGTCAAAAAATTCAAAACAATTTATGACAGCAGATGTTGGATGTCTACTTAAACGTGGTGTCCAGTATATTTCTGAGGGATAATAAAAAAAAAGTCCTGCCCTAGGGATGAAATTCCATATTAAAAGATATTATCTTGGGGAGAAGGGGAGGCTGGTACCTTGGAAAATGTCAAATAGCACATGGAAAAAGAAAAAGAAGAAAGAAGGCTGGATGTAGCAGCTCACACCTATAATATCAGCACTTGGGAAGGCTGAAGTGGGAGGACTGCTTGAGGCCAGGAGTTCAAAACTAGCCTAGTCAACATAGTGAGGCCCCATCTCGAATGAATAAATGAATGAATGAATTAAAGAAATAACAAAAAATAAATAGCATATGAAACTTAAAAATTACAGGTTCGTGCCAGGTGCGGTGGCTGATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATTACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCGACACGGAGAAACCCATCTCTACTAAAAATACAAAGTTAGCTGAGCTTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATCGCCTGAACCCGGGAGGTGGAGGTTGTGGTGAGCCAAGACTGCGCCATGCACTCCAGCCTGAGCAACAAAAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAATTACAGGCTTGGGCTAGGCATGGTAGCTCCCACCTATAATCCTAGCACTTTGGGAAACCAAGGCAGGAGGATCACTTGAGGCTGGGAGTTTGAGACCGGCCCAGGGAACATAGAAAGAGACCTCATCTCAACCAAAAAAAAAAAAAAATTTTTTTTTAACTAGCTGGGCATGGTGGCATATACCTGTAGTTCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCATTTAAGTCCAGAAGTTTGAGGCCACACTACAGCCAGTTTTATGGGCAACCATTCTCTTCCTTTCCCATGGTCCCTATCCAAGCCCACAGAATACAAACTTCTTAGAAGTTTTGGGAAGGTGACCCATGCCCCTACTTCTTCCCACAGTGACAGTGACTCATCTGATTGGTAAGATGGAGAGAAAGACTCTGTGTACACACAGATCTTCAAAGAACCCAGCACCTAAGCTGGTGCCTCCCTCCTCTCACTCTTGCCTTCCTAGGGCCCACCATAAGCAAGAGCAGCAGCCTGGTTTCTAGAAGCAGGTCTAGAGGCCTATCCCTCTGCCTTGTTGGTCTATGGCAGCTGAAGCTCCATATGGATGGCTGGGGTGGGGTGGGGGTGCTGCTCTGCACATCCAGTCTCTCTACCCCAAGATCTAACTCAGGGCACAGGCATTGGAAAGCCCCTATGGTTACCAGCTCAAGCCACACTTTCCATTCTAGTTTTACCAACAATACAGCTGATGTTTTAACCTTCATTCCTTTCTCATGTCTATTTCTCAAGCAGGACTACACTTAAAGGGAGAAAACATGATTAACGATCACCCACAGAAACCCACCTCTAATACCTTCGTAAAAAACTGTATTGGCTCCCCACTGCTTCCAGCTATAAACATCTCAGGCCAACACAGAAAGCTGTTTCACACAATTGATAACTTCAACTTTCCCTCCCTGTGCCTTGGTCACCCCAGACTCCCAACTCTTCCCTGCATGCAGTGTGTTTCCACACTCTCTTC |
Task1_train_24427 | This variant affects gene STAT3 (signal transducer and activator of transcription 3) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; STAT3-related early-onset multisystem autoimmune disease | CCGAAATAAAGTAAAAACTTTAATTCTTGGGCTAAATTTGAATATGGAAAAGTCCCCACGTTGGAGATATAGTACCAATTCTGTGGGCCTGCAGTTAAGATCAGAATTCAATCTAGCTTTCGAGAAAGAAAGGAAAAGCTTCTTTCATCCTTTACCAGTTTTCTAGCCGATCTAGGCAGATGTTGGGCGGGCCTCCAATGCAGGCAATCTGTTGCCGCCTCTTCCAGTCAGCCAGCTCCTCGTCCGTGAGAGTTTTCTGCACGTACTCCATCGCTGACAAAAGCCCCGCCAGCTCACTCACGATGCTCTGGTTGGAAACCAAAACAAAGTCAGAAAACATTTCCTCAGACTGTCTCTAACCACATTCTTTAGTCAACTCCAGAGCAGGAACTTCTTAGAAACCAAGCAAGTTCTGCCACAAGACGCTGAAATCCCGCAAGTGAGCGAGACACATGGGGGAAGTGGTCCGACCTATGCCCTTACTCTCCGCATCTGGTCCAGCGCAGTGAGCATCTGTTCCAGCTGCTGCATCTTCTGCCTGGTCACTGACTGGTTGTTTCCATTCAGATCTTGCATGTCTGCGAAGGAAGAAAAAACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGTCCTTAATGACCAGGCTCCTTTGAGGACCCGTACCTCCCTTGCGCCCCGCCCGCCTTAAGATCTAAACAGAGTTAAGACAAATGAGTCTTTCAACTCAACAACACAAACTCACTTTCTAGAGATTTTAACATCTCTAATATTCACTTGCCTCCTTGACTCTTGAGGGTTTTATAGTTGAAATCAAAGTCATCCTGGAGATTCTCTACCACTTTCATTTTCTGTTCTAGATCCTGTTTAAAATAAGCAAACAAAAAAACAGAAGTAAAGAAAGATTTCCTTGGGAACAGAAAATATAAAGTTTCTGAGGAGAATTCAAATGAAGCCAAAACCTCAAAAAAGATACATGCAGGACCTGCAGGCAGTATCCCCAAGAGAAGGCTCCCTGTTGGCCAGGTGCAGTGGCTCACGCCTGTAATGCCAGCACTTTGAGAGGCTGAGTTGGGAGGATCACTTGAGCCCAGGAGTTCATGATCAGCCTGGACAACACAGGGAGACCCCCATCTCTACAAATTTTTTTTTTTTAATTAGCTGGGCGTGGTGGTGCATGCCTGTGGTCCCGGCTACTTGGGAGGATGAGGTAGGAGGATCGCTTGGGCCTGAGAGGTCGAGGCTGCAGTGAGCTGTGATCATGCCACTGCAGCCCAGCCTGAGTGGCAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAATTAATGAAAGCTCCCTGCCCGAGGCTTGTAACTTGCATCACCTGCACTCTCTTCCGGACATCCTGAAGGTGCTGCTCCAGCATCTGCTGCTTCTCCGTCACCACGGCTGCTGTGGGGTGGTTGGCCTGGCCCCCTTGCTGCCAAAAAGGAGGTCAATGCACATGTGAACACAGAACTATGGGGAGAGGAATACCTCTACCCAGCTTCCATCCCACCCTAACTACCCTTCTTGTTTGGCTTGAGACGCTGCTGCCATCACAAGAGGAAGGGAAACAGAGGCAGTGGTGCTGTCACTACACAGGTGACACTACACAGGTCATACCATAAACCCCCTTTATGGCACTAAGAGACCACATGTTCAGCTAAGACATGGTCTATGCCTTCAAAAACCTCATGGGCAAGTATGTCAAAAAATTCAAAACAATTTATGACAGCAGATGTTGGATGTCTACTTAAACGTGGTGTCCAGTATATTTCTGAGGGATAATAAAAAAAAAGTCCTGCCCTAGGGATGAAATTCCATATTAAAAGATATTATCTTGGGGAGAAGGGGAGGCTGGTACCTTGGAAAATGTCAAATAGCACATGGAAAAAGAAAAAGAAGAAAGAAGGCTGGATGTAGCAGCTCACACCTATAATATCAGCACTTGGGAAGGCTGAAGTGGGAGGACTGCTTGAGGCCAGGAGTTCAAAACTAGCCTAGTCAACATAGTGAGGCCCCATCTCGAATGAATAAATGAATGAATGAATTAAAGAAATAACAAAAAATAAATAGCATATGAAACTTAAAAATTACAGGTTCGTGCCAGGTGCGGTGGCTGATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATTACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCGACACGGAGAAACCCATCTCTACTAAAAATACAAAGTTAGCTGAGCTTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATCGCCTGAACCCGGGAGGTGGAGGTTGTGGTGAGCCAAGACTGCGCCATGCACTCCAGCCTGAGCAACAAAAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAATTACAGGCTTGGGCTAGGCATGGTAGCTCCCACCTATAATCCTAGCACTTTGGGAAACCAAGGCAGGAGGATCACTTGAGGCTGGGAGTTTGAGACCGGCCCAGGGAACATAGAAAGAGACCTCATCTCAACCAAAAAAAAAAAAAAATTTTTTTTTAACTAGCTGGGCATGGTGGCATATACCTGTAGTTCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCATTTAAGTCCAGAAGTTTGAGGCCACACTACAGCCAGTTTTATGGGCAACCATTCTCTTCCTTTCCCATGGTCCCTATCCAAGCCCACAGAATACAAACTTCTTAGAAGTTTTGGGAAGGTGACCCATGCCCCTACTTCTTCCCACAGTGACAGTGACTCATCTGATTGGTAAGATGGAGAGAAAGACTCTGTGTACACACAGATCTTCAAAGAACCCAGCACCTAAGCTGGTGCCTCCCTCCTCTCACTCTTGCCTTCCTAGGGCCCACCATAAGCAAGAGCAGCAGCCTGGTTTCTAGAAGCAGGTCTAGAGGCCTATCCCTCTGCCTTGTTGGTCTATGGCAGCTGAAGCTCCATATGGATGGCTGGGGTGGGGTGGGGGTGCTGCTCTGCACATCCAGTCTCTCTACCCCAAGATCTAACTCAGGGCACAGGCATTGGAAAGCCCCTATGGTTACCAGCTCAAGCCACACTTTCCATTCTAGTTTTACCAACAATACAGCTGATGTTTTAACCTTCATTCCTTTCTCATGTCTATTTCTCAAGCAGGACTACACTTAAAGGGAGAAAACATGATTAACGATCACCCACAGAAACCCACCTCTAATACCTTCGTAAAAAACTGTATTGGCTCCCCACTGCTTCCAGCTATAAACATCTCAGGCCAACACAGAAAGCTGTTTCACACAATTGATAACTTCAACTTTCCCTCCCTGTGCCTTGGTCACCCCAGACTCCCAACTCTTCCCTGCATGCAGTGTGTTTCCACACTCTCTTC | CCGAAATAAAGTAAAAACTTTAATTCTTGGGCTAAATTTGAATATGGAAAAGTCCCCACGTTGGAGATATAGTACCAATTCTGTGGGCCTGCAGTTAAGATCAGAATTCAATCTAGCTTTCGAGAAAGAAAGGAAAAGCTTCTTTCATCCTTTACCAGTTTTCTAGCCGATCTAGGCAGATGTTGGGCGGGCCTCCAATGCAGGCAATCTGTTGCCGCCTCTTCCAGTCAGCCAGCTCCTCGTCCGTGAGAGTTTTCTGCACGTACTCCATCGCTGACAAAAGCCCCGCCAGCTCACTCACGATGCTCTGGTTGGAAACCAAAACAAAGTCAGAAAACATTTCCTCAGACTGTCTCTAACCACATTCTTTAGTCAACTCCAGAGCAGGAACTTCTTAGAAACCAAGCAAGTTCTGCCACAAGACGCTGAAATCCCGCAAGTGAGCGAGACACATGGGGGAAGTGGTCCGACCTATGCCCTTACTCTCCGCATCTGGTCCAGCGCAGTGAGCATCTGTTCCAGCTGCTGCATCTTCTGCCTGGTCACTGACTGGTTGTTTCCATTCAGATCTTGCATGTCTGCGAAGGAAGAAAAAACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGTCCTTAATGACCAGGCTCCTTTGAGGACCCGTACCTCCCTTGCGCCCCGCCCGCCTTAAGATCTAAACAGAGTTAAGACAAATGAGTCTTTCAACTCAACAACACAAACTCACTTTCTAGAGATTTTAACATCTCTAATATTCACTTGCCTCCTTGACTCTTGAGGGTTTTATAGTTGAAATCAAAGTCATCCTGGAGATTCTCTACCACTTTCATTTTCTGTTCTAGATCCTGTTTAAAATAAGCAAACAAAAAAACAGAAGTAAAGAAAGATTTCCTTGGGAACAGAAAATATAAAGTTTCTGAGGAGAATTCAAATGAAGCCAAAACCTCAAAAAAGATACATGCAGGACCTGCAGGCAGTATCCCCAAGAGAAGGCTCCCTGTTGGCCAGGTGCAGTGGCTCACGCCTGTAATGCCAGCACTTTGAGAGGCTGAGTTGGGAGGATCACTTGAGCCCAGGAGTTCATGATCAGCCTGGACAACACAGGGAGACCCCCATCTCTACAAATTTTTTTTTTTTAATTAGCTGGGCGTGGTGGTGCATGCCTGTGGTCCCGGCTACTTGGGAGGATGAGGTAGGAGGATCGCTTGGGCCTGAGAGGTCGAGGCTGCAGTGAGCTGTGATCATGCCACTGCAGCCCAGCCTGAGTGGCAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAATTAATGAAAGCTCCCTGCCCGAGGCTTGTAACTTGCATCACCTGCACTCTCTTCCAGACATCCTGAAGGTGCTGCTCCAGCATCTGCTGCTTCTCCGTCACCACGGCTGCTGTGGGGTGGTTGGCCTGGCCCCCTTGCTGCCAAAAAGGAGGTCAATGCACATGTGAACACAGAACTATGGGGAGAGGAATACCTCTACCCAGCTTCCATCCCACCCTAACTACCCTTCTTGTTTGGCTTGAGACGCTGCTGCCATCACAAGAGGAAGGGAAACAGAGGCAGTGGTGCTGTCACTACACAGGTGACACTACACAGGTCATACCATAAACCCCCTTTATGGCACTAAGAGACCACATGTTCAGCTAAGACATGGTCTATGCCTTCAAAAACCTCATGGGCAAGTATGTCAAAAAATTCAAAACAATTTATGACAGCAGATGTTGGATGTCTACTTAAACGTGGTGTCCAGTATATTTCTGAGGGATAATAAAAAAAAAGTCCTGCCCTAGGGATGAAATTCCATATTAAAAGATATTATCTTGGGGAGAAGGGGAGGCTGGTACCTTGGAAAATGTCAAATAGCACATGGAAAAAGAAAAAGAAGAAAGAAGGCTGGATGTAGCAGCTCACACCTATAATATCAGCACTTGGGAAGGCTGAAGTGGGAGGACTGCTTGAGGCCAGGAGTTCAAAACTAGCCTAGTCAACATAGTGAGGCCCCATCTCGAATGAATAAATGAATGAATGAATTAAAGAAATAACAAAAAATAAATAGCATATGAAACTTAAAAATTACAGGTTCGTGCCAGGTGCGGTGGCTGATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATTACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCGACACGGAGAAACCCATCTCTACTAAAAATACAAAGTTAGCTGAGCTTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATCGCCTGAACCCGGGAGGTGGAGGTTGTGGTGAGCCAAGACTGCGCCATGCACTCCAGCCTGAGCAACAAAAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAATTACAGGCTTGGGCTAGGCATGGTAGCTCCCACCTATAATCCTAGCACTTTGGGAAACCAAGGCAGGAGGATCACTTGAGGCTGGGAGTTTGAGACCGGCCCAGGGAACATAGAAAGAGACCTCATCTCAACCAAAAAAAAAAAAAAATTTTTTTTTAACTAGCTGGGCATGGTGGCATATACCTGTAGTTCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCATTTAAGTCCAGAAGTTTGAGGCCACACTACAGCCAGTTTTATGGGCAACCATTCTCTTCCTTTCCCATGGTCCCTATCCAAGCCCACAGAATACAAACTTCTTAGAAGTTTTGGGAAGGTGACCCATGCCCCTACTTCTTCCCACAGTGACAGTGACTCATCTGATTGGTAAGATGGAGAGAAAGACTCTGTGTACACACAGATCTTCAAAGAACCCAGCACCTAAGCTGGTGCCTCCCTCCTCTCACTCTTGCCTTCCTAGGGCCCACCATAAGCAAGAGCAGCAGCCTGGTTTCTAGAAGCAGGTCTAGAGGCCTATCCCTCTGCCTTGTTGGTCTATGGCAGCTGAAGCTCCATATGGATGGCTGGGGTGGGGTGGGGGTGCTGCTCTGCACATCCAGTCTCTCTACCCCAAGATCTAACTCAGGGCACAGGCATTGGAAAGCCCCTATGGTTACCAGCTCAAGCCACACTTTCCATTCTAGTTTTACCAACAATACAGCTGATGTTTTAACCTTCATTCCTTTCTCATGTCTATTTCTCAAGCAGGACTACACTTAAAGGGAGAAAACATGATTAACGATCACCCACAGAAACCCACCTCTAATACCTTCGTAAAAAACTGTATTGGCTCCCCACTGCTTCCAGCTATAAACATCTCAGGCCAACACAGAAAGCTGTTTCACACAATTGATAACTTCAACTTTCCCTCCCTGTGCCTTGGTCACCCCAGACTCCCAACTCTTCCCTGCATGCAGTGTGTTTCCACACTCTCTTC |
Task1_train_24428 | Chromosome 17 houses a mutation in gene ATP6V0A1 (ATPase H+ transporting V0 subunit a1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Developmental and epileptic encephalopathy 104 | AGGAACTGTTTTAAGCAAAATGTTTCTTCTAAGATGTCTGATATTTTTAAATGGCTTTTTTTTTGGCTTCCCTGTTCCAAGGTTAGACAGAAAAAATGTAGCAAGTATTGGCCACTTTAGGTACAACACAGATTTCTCCTATATTTGGAGAGTTAATTATTAAATCAAGAGTGTGAGTATTCATTTTCAGTTGGAGCCCTATGGAAGAACTGCTTTGCTCTGGGCTCTCTCCATCTGTACGTTATCTGATATTTAGCTTTATATCACTGGGACATGGTTGCTGCACAAAGAGAAGACAGCTGGCCTGCCCTGGGAGCAGGGTCCCACGAGTTACAAGAGAGTCAGAGAACAAACCAATGTTGTCAAGGTTACACCTTCATTTCCACTGTTCTTTGTTTGAAATGTTATCAGAGCTGCCAGGCACAGTGCCTCATGCCTGTAATCTCGGATATTCAGGAGGCTGAGGTGGGAGGATTGCTCAAGGCCACAAGTTCAGGACTAGCTTGGGCAAAATAGTGAGATTCCATCTAAAAAAATATTATTTATCAGTAATTTTAAAACAAAATTAACTGGGCATGGTGGCACATACTTGTAGTTCCAACTGTTTGGGAGGCTGAGGTGGGAGGATAACTTGAGTCCAGGGGTTGCAGGCTGCAGTGAGCTGTGATGAAACCACTGCACTCCAGCCTGGGTGGCAGAGAAAGACCCCATCTCTCTTTTAAAAAAAGTTATCAGTAGCTCAAATTTCATTAGCTACTTTGTGAAGATGTGTTGATTCTGCCATGAAAGATTTTCTCTGAGAGTCCTATCTGTCTGGCAGCTGGGGAGTAAGTCACCTTATATTGATCTTAAGATTATGGAAGCCTGGGCACGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGAGTCGGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAACTTAGCTAGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTGAGACATTGCTGGCTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAGGGGGGTGGGTATGGAAAAGAATGTAATATTTGTGGAATTGCTATGGTTTAATGTACTTTGTATTTTTCTTTTTTTGGTTTCTTCATAGCTCCGTATACTATTATCACGTTCCCTTTTCTATTTGCTGTGATGTTTGGAGACTTCGGTCATGGCATTTTAATGACCCTTTTTGCTGTGTGGATGGTACTGAGGGAGAGCCGGATCCTTTCCCAGAAGAATGAGAATGAGGTAATGTTTAAGTTACATCTGCATTGAACTGAAATTTTATAATTTCCCAAGCATTCATTATGAAAATTATGATCTGGAAGTCTTTTATCCATGAATTTATCAAAAGGAAGTAGAGAAGTTATGTTCATTTTAACACCAAAGACGACATGTGCAAGCTGGAAGTGGTAGTGTGTGCCTGTAGTCCCAGCTACTTGGAGGCTGAGGCAGGAGAATCACTTGAGCCCAGGAATTCGAGACCAGCATAGGCAACATAGTGAGACCCCATCTCTAAAAAAATAAAAATTATTTAGGTTTGGTGCAAAAGTTATTGCGGTTTTGGCTGCCAAAAGAAATGGCCAAAACCGCAGTAACTTTTGTGCCAACCTAATAAAAAAATAGAGGCCACATCCTGTGAAAGTGACTGTCTCATTAGCATTGTATTTTGGTTTTTACTTCAAGCTCTCTGAATCAGGATGGGGTAAAGTAGTGCTGGAGAAAGGGGCAGGTATATTCTGAATAACATTGTCACAATGTGAGCTGCAGTGAGTACATTCTCATTACTTCTTTCTTCTGGTTCCCAGATGTTTAGCACTGTGTTCAGTGGTCGATACATTATTTTATTGATGGGTGTGTTCTCCATGTACACTGGCCTCATCTACAATGATTGCTTTTCCAAGTCTCTTAATATCTTTGGGTCATCCTGGAGTGTACGGCCGATGTTTACTTATAATTGGACGTAAGTTGCAGAAGAAGCTAAAATTCAAAGCTTATTCCTTTCATGTGCAGCCCTGATTTTTAAGACAAGTGGTAAACTGACACTTCTTTAGGAAGTGGTGACAGTGTCTCCTCATTCATGCTCCACACTGTGAGTTGCTTTGTGATTTGTTCAGCAAGTATCCAGGAACTAAGATTAGAAATGATTTTTTTTTTTTTTGGAAACTAAAACCAGATTCCCCAGTTCCCTACTTGATTGTGTGTTTGTGTGTTTAATTTTTCTTTTTGTCATTTTGGATCCCTCAGTCTCAGCTGCTAGTCTCTCCTCTTTATTTTTCCCCTCCCATTTTATTGAAGAGACAAGATAGCTACAGTAATTTATTTTGGGGTCAGTTTCTGGACCCTTGTTGTTTCCCTCTCTTGTTCAAAAATAATGTGACTTTTTCCCTGTCATGGTAGTGAAGAGACGCTTCGGGGGAACCCTGTTCTACAGCTGAACCCAGCCCTCCCTGGAGTGTTTGGTGGACCATACCCTTTTGGCATTGATCCAGTAAGAGGACTTCCTTCCTATATGCTAACCTCAAATTTTTTAACACTAACCCTGAAGCAAGAGAATTAAAATGAAGATAAATAGTTATGTGGGCTTTCACTGGGCATGGTCGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGGTGGGATCACCTGAGGTCAGCATGGTGAAACCCTATCTCTACTAAAAATAAAATATTAGCCGGGCGTGGTGGCGCATGCCTGTAGTCCCAGCTACCCGGGAGACTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCAAGCTGCACTCCAGCCTGTGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAACAAACAAAAATAGTTATGTGGGTTTTCGTTGACATATTTTTGGGAAACCTTGATGTATGTATTCAGAGGACTTCTAAGCCATAAGAGACCCAAGTGCCTTGAGGAGCCACATACTTTTCCCTGCGCTGCTTATTTCTGAGGTGGTTAATAATATCGACTCTGGGAAGATTGATTTTTCAAGACTCCTTCCCATTTCTTAATTTATTTCTGCTTACTTAGTTTGGTTTTTTATTTTTAGCAGACATTTTAGCAAAGCAGAAATATATTTTTCCTGTGGATTTTAGACTTGCATTCTTATATTTACGAACTTACAAAAACTTATCCGAGAATTAATTTTTTTTTCAAATGCTTAGGCAAATTAAGTATGATCAAGTCTTCTTTATTGTGTGCTGTAAAAATGGAGTGGCGGCAAGAATGTAATACAGGGCATCTGACTGCTGAGGAAAAAAAAAAATAATACAGGCTGGGCGAGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGACACAGAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAGAAATTAGCTGGGCACGGTGGCATATGCCTGTAGTCCCAGCTACAGGAGGCTGTGGAAGAATTGCTTGCGCCCGGGAGGAGGAGGTTGCAGTGAGCCCAGATCGTGCCACTGCACTCCAGCCTGGGGGACATAGCAAGACTCCATCTCAAAAAAATAGATGGAATGACAGCACCACAGGGCTACAATCAGCGAAACATAGACTGTGGGAAAATATATAAGATAAACAACCCAATTTCTTCAAAAGAAATTTTGTAATGAATGAAAAAGGAAAGATGGAAGGAGAACCTGTAGTTTAGAGACTCAAGAGATATATCTACAATCATAATGTATAAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGACAGATGACTTGCGGTCAGGAAATTCCAGACCAGCCAGGGCAACATAGTGAAACCCCATCTCTACCAGAAGTATAAAAATTGGCCGGGTGTGGTGGTGCACGCCTGTAGTCCTAAGGCAGG | AGGAACTGTTTTAAGCAAAATGTTTCTTCTAAGATGTCTGATATTTTTAAATGGCTTTTTTTTTGGCTTCCCTGTTCCAAGGTTAGACAGAAAAAATGTAGCAAGTATTGGCCACTTTAGGTACAACACAGATTTCTCCTATATTTGGAGAGTTAATTATTAAATCAAGAGTGTGAGTATTCATTTTCAGTTGGAGCCCTATGGAAGAACTGCTTTGCTCTGGGCTCTCTCCATCTGTACGTTATCTGATATTTAGCTTTATATCACTGGGACATGGTTGCTGCACAAAGAGAAGACAGCTGGCCTGCCCTGGGAGCAGGGTCCCACGAGTTACAAGAGAGTCAGAGAACAAACCAATGTTGTCAAGGTTACACCTTCATTTCCACTGTTCTTTGTTTGAAATGTTATCAGAGCTGCCAGGCACAGTGCCTCATGCCTGTAATCTCGGATATTCAGGAGGCTGAGGTGGGAGGATTGCTCAAGGCCACAAGTTCAGGACTAGCTTGGGCAAAATAGTGAGATTCCATCTAAAAAAATATTATTTATCAGTAATTTTAAAACAAAATTAACTGGGCATGGTGGCACATACTTGTAGTTCCAACTGTTTGGGAGGCTGAGGTGGGAGGATAACTTGAGTCCAGGGGTTGCAGGCTGCAGTGAGCTGTGATGAAACCACTGCACTCCAGCCTGGGTGGCAGAGAAAGACCCCATCTCTCTTTTAAAAAAAGTTATCAGTAGCTCAAATTTCATTAGCTACTTTGTGAAGATGTGTTGATTCTGCCATGAAAGATTTTCTCTGAGAGTCCTATCTGTCTGGCAGCTGGGGAGTAAGTCACCTTATATTGATCTTAAGATTATGGAAGCCTGGGCACGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGAGTCGGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAACTTAGCTAGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTGAGACATTGCTGGCTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAGGGGGGTGGGTATGGAAAAGAATGTAATATTTGTGGAATTGCTATGGTTTAATGTACTTTGTATTTTTCTTTTTTTGGTTTCTTCATAGCTCCGTATACTATTATCACGTTCCCTTTTCTATTTGCTGTGATGTTTGGAGACTTCGGTCATGGCATTTTAATGACCCTTTTTGCTGTGTGGATGGTACTGAGGGAGAGCCGGATCCTTTCCCAGAAGAATGAGAATGAGGTAATGTTTAAGTTACATCTGCATTGAACTGAAATTTTATAATTTCCCAAGCATTCATTATGAAAATTATGATCTGGAAGTCTTTTATCCATGAATTTATCAAAAGGAAGTAGAGAAGTTATGTTCATTTTAACACCAAAGACGACATGTGCAAGCTGGAAGTGGTAGTGTGTGCCTGTAGTCCCAGCTACTTGGAGGCTGAGGCAGGAGAATCACTTGAGCCCAGGAATTCGAGACCAGCATAGGCAACATAGTGAGACCCCATCTCTAAAAAAATAAAAATTATTTAGGTTTGGTGCAAAAGTTATTGCGGTTTTGGCTGCCAAAAGAAATGGCCAAAACCGCAGTAACTTTTGTGCCAACCTAATAAAAAAATAGAGGCCACATCCTGTGAAAGTGACTGTCTCATTAGCATTGTATTTTGGTTTTTACTTCAAGCTCTCTGAATCAGGATGGGGTAAAGTAGTGCTGGAGAAAGGGGCAGGTATATTCTGAATAACATTGTCACAATGTGAGCTGCAGTGAGTACATTCTCATTACTTCTTTCTTCTGGTTCCCAGATGTTTAGCACTGTGTTCAGTGGTCGATACATTATTTTATTGATGGGTGTGTTCTCCATGTACACTGGCCTCATCTACAATGATTGCTTTTCCAAGTCTCTTAATATCTTTGGGCCATCCTGGAGTGTACGGCCGATGTTTACTTATAATTGGACGTAAGTTGCAGAAGAAGCTAAAATTCAAAGCTTATTCCTTTCATGTGCAGCCCTGATTTTTAAGACAAGTGGTAAACTGACACTTCTTTAGGAAGTGGTGACAGTGTCTCCTCATTCATGCTCCACACTGTGAGTTGCTTTGTGATTTGTTCAGCAAGTATCCAGGAACTAAGATTAGAAATGATTTTTTTTTTTTTTGGAAACTAAAACCAGATTCCCCAGTTCCCTACTTGATTGTGTGTTTGTGTGTTTAATTTTTCTTTTTGTCATTTTGGATCCCTCAGTCTCAGCTGCTAGTCTCTCCTCTTTATTTTTCCCCTCCCATTTTATTGAAGAGACAAGATAGCTACAGTAATTTATTTTGGGGTCAGTTTCTGGACCCTTGTTGTTTCCCTCTCTTGTTCAAAAATAATGTGACTTTTTCCCTGTCATGGTAGTGAAGAGACGCTTCGGGGGAACCCTGTTCTACAGCTGAACCCAGCCCTCCCTGGAGTGTTTGGTGGACCATACCCTTTTGGCATTGATCCAGTAAGAGGACTTCCTTCCTATATGCTAACCTCAAATTTTTTAACACTAACCCTGAAGCAAGAGAATTAAAATGAAGATAAATAGTTATGTGGGCTTTCACTGGGCATGGTCGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGGTGGGATCACCTGAGGTCAGCATGGTGAAACCCTATCTCTACTAAAAATAAAATATTAGCCGGGCGTGGTGGCGCATGCCTGTAGTCCCAGCTACCCGGGAGACTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCAAGCTGCACTCCAGCCTGTGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAACAAACAAAAATAGTTATGTGGGTTTTCGTTGACATATTTTTGGGAAACCTTGATGTATGTATTCAGAGGACTTCTAAGCCATAAGAGACCCAAGTGCCTTGAGGAGCCACATACTTTTCCCTGCGCTGCTTATTTCTGAGGTGGTTAATAATATCGACTCTGGGAAGATTGATTTTTCAAGACTCCTTCCCATTTCTTAATTTATTTCTGCTTACTTAGTTTGGTTTTTTATTTTTAGCAGACATTTTAGCAAAGCAGAAATATATTTTTCCTGTGGATTTTAGACTTGCATTCTTATATTTACGAACTTACAAAAACTTATCCGAGAATTAATTTTTTTTTCAAATGCTTAGGCAAATTAAGTATGATCAAGTCTTCTTTATTGTGTGCTGTAAAAATGGAGTGGCGGCAAGAATGTAATACAGGGCATCTGACTGCTGAGGAAAAAAAAAAATAATACAGGCTGGGCGAGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGACACAGAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAGAAATTAGCTGGGCACGGTGGCATATGCCTGTAGTCCCAGCTACAGGAGGCTGTGGAAGAATTGCTTGCGCCCGGGAGGAGGAGGTTGCAGTGAGCCCAGATCGTGCCACTGCACTCCAGCCTGGGGGACATAGCAAGACTCCATCTCAAAAAAATAGATGGAATGACAGCACCACAGGGCTACAATCAGCGAAACATAGACTGTGGGAAAATATATAAGATAAACAACCCAATTTCTTCAAAAGAAATTTTGTAATGAATGAAAAAGGAAAGATGGAAGGAGAACCTGTAGTTTAGAGACTCAAGAGATATATCTACAATCATAATGTATAAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGACAGATGACTTGCGGTCAGGAAATTCCAGACCAGCCAGGGCAACATAGTGAAACCCCATCTCTACCAGAAGTATAAAAATTGGCCGGGTGTGGTGGTGCACGCCTGTAGTCCTAAGGCAGG |
Task1_train_24429 | A mutation on Chromosome 17 affecting ATP6V0A1 (ATPase H+ transporting V0 subunit a1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Neurodevelopmental disorder with epilepsy and brain atrophy | TTCCATCTAAAAAAATATTATTTATCAGTAATTTTAAAACAAAATTAACTGGGCATGGTGGCACATACTTGTAGTTCCAACTGTTTGGGAGGCTGAGGTGGGAGGATAACTTGAGTCCAGGGGTTGCAGGCTGCAGTGAGCTGTGATGAAACCACTGCACTCCAGCCTGGGTGGCAGAGAAAGACCCCATCTCTCTTTTAAAAAAAGTTATCAGTAGCTCAAATTTCATTAGCTACTTTGTGAAGATGTGTTGATTCTGCCATGAAAGATTTTCTCTGAGAGTCCTATCTGTCTGGCAGCTGGGGAGTAAGTCACCTTATATTGATCTTAAGATTATGGAAGCCTGGGCACGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGAGTCGGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAACTTAGCTAGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTGAGACATTGCTGGCTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAGGGGGGTGGGTATGGAAAAGAATGTAATATTTGTGGAATTGCTATGGTTTAATGTACTTTGTATTTTTCTTTTTTTGGTTTCTTCATAGCTCCGTATACTATTATCACGTTCCCTTTTCTATTTGCTGTGATGTTTGGAGACTTCGGTCATGGCATTTTAATGACCCTTTTTGCTGTGTGGATGGTACTGAGGGAGAGCCGGATCCTTTCCCAGAAGAATGAGAATGAGGTAATGTTTAAGTTACATCTGCATTGAACTGAAATTTTATAATTTCCCAAGCATTCATTATGAAAATTATGATCTGGAAGTCTTTTATCCATGAATTTATCAAAAGGAAGTAGAGAAGTTATGTTCATTTTAACACCAAAGACGACATGTGCAAGCTGGAAGTGGTAGTGTGTGCCTGTAGTCCCAGCTACTTGGAGGCTGAGGCAGGAGAATCACTTGAGCCCAGGAATTCGAGACCAGCATAGGCAACATAGTGAGACCCCATCTCTAAAAAAATAAAAATTATTTAGGTTTGGTGCAAAAGTTATTGCGGTTTTGGCTGCCAAAAGAAATGGCCAAAACCGCAGTAACTTTTGTGCCAACCTAATAAAAAAATAGAGGCCACATCCTGTGAAAGTGACTGTCTCATTAGCATTGTATTTTGGTTTTTACTTCAAGCTCTCTGAATCAGGATGGGGTAAAGTAGTGCTGGAGAAAGGGGCAGGTATATTCTGAATAACATTGTCACAATGTGAGCTGCAGTGAGTACATTCTCATTACTTCTTTCTTCTGGTTCCCAGATGTTTAGCACTGTGTTCAGTGGTCGATACATTATTTTATTGATGGGTGTGTTCTCCATGTACACTGGCCTCATCTACAATGATTGCTTTTCCAAGTCTCTTAATATCTTTGGGTCATCCTGGAGTGTACGGCCGATGTTTACTTATAATTGGACGTAAGTTGCAGAAGAAGCTAAAATTCAAAGCTTATTCCTTTCATGTGCAGCCCTGATTTTTAAGACAAGTGGTAAACTGACACTTCTTTAGGAAGTGGTGACAGTGTCTCCTCATTCATGCTCCACACTGTGAGTTGCTTTGTGATTTGTTCAGCAAGTATCCAGGAACTAAGATTAGAAATGATTTTTTTTTTTTTTGGAAACTAAAACCAGATTCCCCAGTTCCCTACTTGATTGTGTGTTTGTGTGTTTAATTTTTCTTTTTGTCATTTTGGATCCCTCAGTCTCAGCTGCTAGTCTCTCCTCTTTATTTTTCCCCTCCCATTTTATTGAAGAGACAAGATAGCTACAGTAATTTATTTTGGGGTCAGTTTCTGGACCCTTGTTGTTTCCCTCTCTTGTTCAAAAATAATGTGACTTTTTCCCTGTCATGGTAGTGAAGAGACGCTTCGGGGGAACCCTGTTCTACAGCTGAACCCAGCCCTCCCTGGAGTGTTTGGTGGACCATACCCTTTTGGCATTGATCCAGTAAGAGGACTTCCTTCCTATATGCTAACCTCAAATTTTTTAACACTAACCCTGAAGCAAGAGAATTAAAATGAAGATAAATAGTTATGTGGGCTTTCACTGGGCATGGTCGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGGTGGGATCACCTGAGGTCAGCATGGTGAAACCCTATCTCTACTAAAAATAAAATATTAGCCGGGCGTGGTGGCGCATGCCTGTAGTCCCAGCTACCCGGGAGACTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCAAGCTGCACTCCAGCCTGTGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAACAAACAAAAATAGTTATGTGGGTTTTCGTTGACATATTTTTGGGAAACCTTGATGTATGTATTCAGAGGACTTCTAAGCCATAAGAGACCCAAGTGCCTTGAGGAGCCACATACTTTTCCCTGCGCTGCTTATTTCTGAGGTGGTTAATAATATCGACTCTGGGAAGATTGATTTTTCAAGACTCCTTCCCATTTCTTAATTTATTTCTGCTTACTTAGTTTGGTTTTTTATTTTTAGCAGACATTTTAGCAAAGCAGAAATATATTTTTCCTGTGGATTTTAGACTTGCATTCTTATATTTACGAACTTACAAAAACTTATCCGAGAATTAATTTTTTTTTCAAATGCTTAGGCAAATTAAGTATGATCAAGTCTTCTTTATTGTGTGCTGTAAAAATGGAGTGGCGGCAAGAATGTAATACAGGGCATCTGACTGCTGAGGAAAAAAAAAAATAATACAGGCTGGGCGAGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGACACAGAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAGAAATTAGCTGGGCACGGTGGCATATGCCTGTAGTCCCAGCTACAGGAGGCTGTGGAAGAATTGCTTGCGCCCGGGAGGAGGAGGTTGCAGTGAGCCCAGATCGTGCCACTGCACTCCAGCCTGGGGGACATAGCAAGACTCCATCTCAAAAAAATAGATGGAATGACAGCACCACAGGGCTACAATCAGCGAAACATAGACTGTGGGAAAATATATAAGATAAACAACCCAATTTCTTCAAAAGAAATTTTGTAATGAATGAAAAAGGAAAGATGGAAGGAGAACCTGTAGTTTAGAGACTCAAGAGATATATCTACAATCATAATGTATAAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGACAGATGACTTGCGGTCAGGAAATTCCAGACCAGCCAGGGCAACATAGTGAAACCCCATCTCTACCAGAAGTATAAAAATTGGCCGGGTGTGGTGGTGCACGCCTGTAGTCCTAAGGCAGGAGGCTAAGGCAGGAGAACAGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGTAACTGCACTCCGGCCTGGGTGACAGAGTGAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAATGGTTTGGACACAGATCAGAGAAATTTGAATATTGACTATATATTTTATGATATTAAAGAATCATTGTTAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACGAGGTCAGGAGTTCAAGACCTGCCTGGCCAAGATGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCGTGGTGGCGAGCACCTGTAATTCCAGCTACTCGGGAAGTTGAGGCAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGTAGCGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTAAGACTCCATCTAAAAGAAAAAAAAAAAAAAGAAATCATTGTTAATGCATTTACGTG | TTCCATCTAAAAAAATATTATTTATCAGTAATTTTAAAACAAAATTAACTGGGCATGGTGGCACATACTTGTAGTTCCAACTGTTTGGGAGGCTGAGGTGGGAGGATAACTTGAGTCCAGGGGTTGCAGGCTGCAGTGAGCTGTGATGAAACCACTGCACTCCAGCCTGGGTGGCAGAGAAAGACCCCATCTCTCTTTTAAAAAAAGTTATCAGTAGCTCAAATTTCATTAGCTACTTTGTGAAGATGTGTTGATTCTGCCATGAAAGATTTTCTCTGAGAGTCCTATCTGTCTGGCAGCTGGGGAGTAAGTCACCTTATATTGATCTTAAGATTATGGAAGCCTGGGCACGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGAGTCGGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAACTTAGCTAGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTGAGACATTGCTGGCTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAGGGGGGTGGGTATGGAAAAGAATGTAATATTTGTGGAATTGCTATGGTTTAATGTACTTTGTATTTTTCTTTTTTTGGTTTCTTCATAGCTCCGTATACTATTATCACGTTCCCTTTTCTATTTGCTGTGATGTTTGGAGACTTCGGTCATGGCATTTTAATGACCCTTTTTGCTGTGTGGATGGTACTGAGGGAGAGCCGGATCCTTTCCCAGAAGAATGAGAATGAGGTAATGTTTAAGTTACATCTGCATTGAACTGAAATTTTATAATTTCCCAAGCATTCATTATGAAAATTATGATCTGGAAGTCTTTTATCCATGAATTTATCAAAAGGAAGTAGAGAAGTTATGTTCATTTTAACACCAAAGACGACATGTGCAAGCTGGAAGTGGTAGTGTGTGCCTGTAGTCCCAGCTACTTGGAGGCTGAGGCAGGAGAATCACTTGAGCCCAGGAATTCGAGACCAGCATAGGCAACATAGTGAGACCCCATCTCTAAAAAAATAAAAATTATTTAGGTTTGGTGCAAAAGTTATTGCGGTTTTGGCTGCCAAAAGAAATGGCCAAAACCGCAGTAACTTTTGTGCCAACCTAATAAAAAAATAGAGGCCACATCCTGTGAAAGTGACTGTCTCATTAGCATTGTATTTTGGTTTTTACTTCAAGCTCTCTGAATCAGGATGGGGTAAAGTAGTGCTGGAGAAAGGGGCAGGTATATTCTGAATAACATTGTCACAATGTGAGCTGCAGTGAGTACATTCTCATTACTTCTTTCTTCTGGTTCCCAGATGTTTAGCACTGTGTTCAGTGGTCGATACATTATTTTATTGATGGGTGTGTTCTCCATGTACACTGGCCTCATCTACAATGATTGCTTTTCCAAGTCTCTTAATATCTTTGGGTCATCCTGGAGTGTACGGCCGATGTTTACTTATAATTGGACGTAAGTTGCAGAAGAAGCTAAAATTCAAAGCTTATTCCTTTCATGTGCAGCCCTGATTTTTAAGACAAGTGGTAAACTGACACTTCTTTAGGAAGTGGTGACAGTGTCTCCTCATTCATGCTCCACACTGTGAGTTGCTTTGTGATTTGTTCAGCAAGTATCCAGGAACTAAGATTAGAAATGATTTTTTTTTTTTTTGGAAACTAAAACCAGATTCCCCAGTTCCCTACTTGATTGTGTGTTTGTGTGTTTAATTTTTCTTTTTGTCATTTTGGATCCCTCAGTCTCAGCTGCTAGTCTCTCCTCTTTATTTTTCCCCTCCCATTTTATTGAAGAGACAAGATAGCTACAGTAATTTATTTTGGGGTCAGTTTCTGGACCCTTGTTGTTTCCCTCTCTTGTTCAAAAATAATGTGACTTTTTCCCTGTCATGGTAGTGAAGAGACGCTTCGGGGGAACCCTGTTCTACAGCTGAACCCACCCCTCCCTGGAGTGTTTGGTGGACCATACCCTTTTGGCATTGATCCAGTAAGAGGACTTCCTTCCTATATGCTAACCTCAAATTTTTTAACACTAACCCTGAAGCAAGAGAATTAAAATGAAGATAAATAGTTATGTGGGCTTTCACTGGGCATGGTCGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGGTGGGATCACCTGAGGTCAGCATGGTGAAACCCTATCTCTACTAAAAATAAAATATTAGCCGGGCGTGGTGGCGCATGCCTGTAGTCCCAGCTACCCGGGAGACTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCAAGCTGCACTCCAGCCTGTGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAACAAACAAAAATAGTTATGTGGGTTTTCGTTGACATATTTTTGGGAAACCTTGATGTATGTATTCAGAGGACTTCTAAGCCATAAGAGACCCAAGTGCCTTGAGGAGCCACATACTTTTCCCTGCGCTGCTTATTTCTGAGGTGGTTAATAATATCGACTCTGGGAAGATTGATTTTTCAAGACTCCTTCCCATTTCTTAATTTATTTCTGCTTACTTAGTTTGGTTTTTTATTTTTAGCAGACATTTTAGCAAAGCAGAAATATATTTTTCCTGTGGATTTTAGACTTGCATTCTTATATTTACGAACTTACAAAAACTTATCCGAGAATTAATTTTTTTTTCAAATGCTTAGGCAAATTAAGTATGATCAAGTCTTCTTTATTGTGTGCTGTAAAAATGGAGTGGCGGCAAGAATGTAATACAGGGCATCTGACTGCTGAGGAAAAAAAAAAATAATACAGGCTGGGCGAGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGACACAGAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAGAAATTAGCTGGGCACGGTGGCATATGCCTGTAGTCCCAGCTACAGGAGGCTGTGGAAGAATTGCTTGCGCCCGGGAGGAGGAGGTTGCAGTGAGCCCAGATCGTGCCACTGCACTCCAGCCTGGGGGACATAGCAAGACTCCATCTCAAAAAAATAGATGGAATGACAGCACCACAGGGCTACAATCAGCGAAACATAGACTGTGGGAAAATATATAAGATAAACAACCCAATTTCTTCAAAAGAAATTTTGTAATGAATGAAAAAGGAAAGATGGAAGGAGAACCTGTAGTTTAGAGACTCAAGAGATATATCTACAATCATAATGTATAAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGACAGATGACTTGCGGTCAGGAAATTCCAGACCAGCCAGGGCAACATAGTGAAACCCCATCTCTACCAGAAGTATAAAAATTGGCCGGGTGTGGTGGTGCACGCCTGTAGTCCTAAGGCAGGAGGCTAAGGCAGGAGAACAGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGTAACTGCACTCCGGCCTGGGTGACAGAGTGAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAATGGTTTGGACACAGATCAGAGAAATTTGAATATTGACTATATATTTTATGATATTAAAGAATCATTGTTAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACGAGGTCAGGAGTTCAAGACCTGCCTGGCCAAGATGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCGTGGTGGCGAGCACCTGTAATTCCAGCTACTCGGGAAGTTGAGGCAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGTAGCGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTAAGACTCCATCTAAAAGAAAAAAAAAAAAAAGAAATCATTGTTAATGCATTTACGTG |
Task1_train_24430 | The gene ATP6V0A1 (ATPase H+ transporting V0 subunit a1) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Neurodevelopmental disorder with epilepsy and brain atrophy | GGAAAATATATAAGATAAACAACCCAATTTCTTCAAAAGAAATTTTGTAATGAATGAAAAAGGAAAGATGGAAGGAGAACCTGTAGTTTAGAGACTCAAGAGATATATCTACAATCATAATGTATAAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGACAGATGACTTGCGGTCAGGAAATTCCAGACCAGCCAGGGCAACATAGTGAAACCCCATCTCTACCAGAAGTATAAAAATTGGCCGGGTGTGGTGGTGCACGCCTGTAGTCCTAAGGCAGGAGGCTAAGGCAGGAGAACAGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGTAACTGCACTCCGGCCTGGGTGACAGAGTGAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAATGGTTTGGACACAGATCAGAGAAATTTGAATATTGACTATATATTTTATGATATTAAAGAATCATTGTTAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACGAGGTCAGGAGTTCAAGACCTGCCTGGCCAAGATGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCGTGGTGGCGAGCACCTGTAATTCCAGCTACTCGGGAAGTTGAGGCAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGTAGCGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTAAGACTCCATCTAAAAGAAAAAAAAAAAAAAGAAATCATTGTTAATGCATTTACGTGTGATGACAATATTGTGGTCATGTTTTAAAAATAAGTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAATTTGGGAGGCCAAGGCGGGCGGATCATGAGGTCAAGAGATCGAGACCTTCCTGGCTAACATGGTGAAAACCCCACCTTGCAATAGGCCGAGATTTCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGAGTTCATCTCAAAAAAAAAAGAAAAAAAAAAAAAGCCTTACTGGCCGGGCGCAGTGACTCAAGCCTGTAATCCAAGCAGTTTGGGAGGCCGAGGCAAGCCTCAGGCCAGACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGCATCGTGGCCTGTGCCTGTAATCCCAGCTACCTGGGAGGCTGAGGCAAGGCAGGAGGTGGAAGTTGCAGTCAGCGAGATCATGAACACTGCACTCCATCCTGGGCAAAAAGAGCGAAATTCCATCTCAATAAATAAATAAATAAATAAATAAGTCTTTTCCTTTTAGACATCCACACTGAAATATTTACAGGTAAAATGACATGATATCTGGACTTTTTAGTAATGTGGAGATGAGTGAGTGGCAGTAATCTTTTTTCATGACTATAAGGTGATGTTAATTTTTGAAGCATTCTCCTCAAAAGCAAGATTAAAAAAAAAAATTTTGTCGAAGCAGAGTGATAGGTGCCTGGGAGTTTGTTGTACCATCCTGTCTGCTTAAGTATCTGTTTAGAATTTTCCATAATAAATAATATTGATTAATAAATAAAAATTGTCGACCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCATGAATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATAGCTGGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGGCAGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCGTCTCTAAATAAATAAATAAATAAAAATTGTTTTTTAAACAGAGGAATATTTTTCCCTTTGAGAATTCTTTATAATACCTATTTGTTTTCTCGGGTTATGACAGATTTGGAACATTGCTACCAATAAACTGACGTTCTTGAACTCCTTTAAGATGAAGATGTCTGTTATCCTTGGTATCATCCATATGCTGTTTGGAGTCAGCCTGAGTCTGTTCAACCATATGTGAGTTGTTCCATTTCTGTCATAAGAATGTGCATAGTTTAGAGAATGCTTTTGTGTAAAGAAATCATGACATCTTTGGGGAGGGATTAATAACTCAGAACCTCATTCTACATTATAGAAGTGCTTTTCTAAAAATTTAATGGTGTGGCCAGGCGCGGTGGATCATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCCGGTGGATCACCTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCAGGTGTAGTGGCACGCGCCTATATTCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTCGCAGTGAGACAAGATGGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGACTCTGCCTCAAAAAAAATAAATAAATAAATAAATTTCATGGTCTGGCCGGGTGCAGTGGCTTACACTTGTAATCCAGCACTTTGGGAAGATGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCCACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGTGCACCTGTAATCCCAGCTACTCTGGTGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTAAACCAAGATAACACCACTGCACTCCAGTCGGGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAATGTTGATGGTCTTAAATTAGACTTAATATTAGTCCTTTAACAATTTACTGTTCCAGTAAAGATCCTTGAAAAAAACTTGAGCAATTTTCATCAAAATAAGTGAGGTCTCTTTTTTTCCTTGATGTGCAACTCACATAAAATTATTAGCTGTGGACTGGGTGTGGGGGCTCACACCTGTAATGCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGCCCAAGAGTTCAAGACAAGCCTGGGTAACACGGCAAAAGACCCCATCTCTACAAAAAAAAAAAAAAAAAAAAGTTATGAACTGTGGTCTCAAAATGTACTAGATTTTTCCATTCTCTTTCTCATGGAGAGAATGGTGGGGATGGTATTGGAGCCGTTCAAGGTTCAAAAGTTTAAGGCCTGGCACAATGGCTCACATCTGTCATCCTGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGATGTCAGGAGTTCAAGACCAGTCTGGGCAACATGGCAAAACCCCATCTCTACAAAAAAATGTAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCGAGAGGCTGAGGTAAGAGGATTGCCTAAGCCCAGGGAGGTTAAGACTGCGGTGAGCCAATATTGCACCACTGTACTCCAGGCTGGGTAGCAGAGTGAGACCCTGTCTCAAAAAAGAAAAAGCAACAGCAAAACAAAACCAAGGTTCAAAAGTTTGACCGTGATAGTTAATCCTGCATTGTCTCTGTTGTCTCCAGCTTCTGGTTGCTGCTGCTTAAAGTGATAAAGACAGAATTGAGGGGGTATTAAGTAGAAAAATCTAGTGAATACTCCATTCAGTGTAGGAGTGGCCCTAGGCCCATTTACCCTTAACATTTTTTTCTCTCTCCTTTTTAGCTATTTCAAGAAGCCCCTGAATATCTACTTTGGATTTATTCCTGAAATAATCTTCATGACCTCTTTGTTTGGCTATTTGGTTATCCTTATTTTTTACAAGTGGACGGCCTATGATGCTCATACCTCTGAGAATGCACCAAGCCTTCTGATCCATTTCATAAACATGTTCCTCTTTTCCTACCCAGAGTCTGGTTATTCAATGTTGTATTCTGGACAGGTACGTCAGCCCAGAGGCAGACTGTCTGAGATGATTATACTTGATCAGGAAGCCAGATGTTTCTCT | GGAAAATATATAAGATAAACAACCCAATTTCTTCAAAAGAAATTTTGTAATGAATGAAAAAGGAAAGATGGAAGGAGAACCTGTAGTTTAGAGACTCAAGAGATATATCTACAATCATAATGTATAAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGACAGATGACTTGCGGTCAGGAAATTCCAGACCAGCCAGGGCAACATAGTGAAACCCCATCTCTACCAGAAGTATAAAAATTGGCCGGGTGTGGTGGTGCACGCCTGTAGTCCTAAGGCAGGAGGCTAAGGCAGGAGAACAGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGTAACTGCACTCCGGCCTGGGTGACAGAGTGAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAATGGTTTGGACACAGATCAGAGAAATTTGAATATTGACTATATATTTTATGATATTAAAGAATCATTGTTAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACGAGGTCAGGAGTTCAAGACCTGCCTGGCCAAGATGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCGTGGTGGCGAGCACCTGTAATTCCAGCTACTCGGGAAGTTGAGGCAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGTAGCGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTAAGACTCCATCTAAAAGAAAAAAAAAAAAAAGAAATCATTGTTAATGCATTTACGTGTGATGACAATATTGTGGTCATGTTTTAAAAATAAGTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAATTTGGGAGGCCAAGGCGGGCGGATCATGAGGTCAAGAGATCGAGACCTTCCTGGCTAACATGGTGAAAACCCCACCTTGCAATAGGCCGAGATTTCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGAGTTCATCTCAAAAAAAAAAGAAAAAAAAAAAAAGCCTTACTGGCCGGGCGCAGTGACTCAAGCCTGTAATCCAAGCAGTTTGGGAGGCCGAGGCAAGCCTCAGGCCAGACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGCATCGTGGCCTGTGCCTGTAATCCCAGCTACCTGGGAGGCTGAGGCAAGGCAGGAGGTGGAAGTTGCAGTCAGCGAGATCATGAACACTGCACTCCATCCTGGGCAAAAAGAGCGAAATTCCATCTCAATAAATAAATAAATAAATAAATAAGTCTTTTCCTTTTAGACATCCACACTGAAATATTTACAGGTAAAATGACATGATATCTGGACTTTTTAGTAATGTGGAGATGAGTGAGTGGCAGTAATCTTTTTTCATGACTATAAGGTGATGTTAATTTTTGAAGCATTCTCCTCAAAAGCAAGATTAAAAAAAAAAATTTTGTCGAAGCAGAGTGATAGGTGCCTGGGAGTTTGTTGTACCATCCTGTCTGCTTAAGTATCTGTTTAGAATTTTCCATAATAAATAATATTGATTAATAAATAAAAATTGTCGACCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCATGAATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATAGCTGGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGGCAGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCGTCTCTAAATAAATAAATAAATAAAAATTGTTTTTTAAACAGAGGAATATTTTTCCCTTTGAGAATTCTTTATAATACCTATTTGTTTTCTCGGGTTATGACAGATTTGGAACATTGCTACCGATAAACTGACGTTCTTGAACTCCTTTAAGATGAAGATGTCTGTTATCCTTGGTATCATCCATATGCTGTTTGGAGTCAGCCTGAGTCTGTTCAACCATATGTGAGTTGTTCCATTTCTGTCATAAGAATGTGCATAGTTTAGAGAATGCTTTTGTGTAAAGAAATCATGACATCTTTGGGGAGGGATTAATAACTCAGAACCTCATTCTACATTATAGAAGTGCTTTTCTAAAAATTTAATGGTGTGGCCAGGCGCGGTGGATCATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCCGGTGGATCACCTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCAGGTGTAGTGGCACGCGCCTATATTCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTCGCAGTGAGACAAGATGGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGACTCTGCCTCAAAAAAAATAAATAAATAAATAAATTTCATGGTCTGGCCGGGTGCAGTGGCTTACACTTGTAATCCAGCACTTTGGGAAGATGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCCACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGTGCACCTGTAATCCCAGCTACTCTGGTGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTAAACCAAGATAACACCACTGCACTCCAGTCGGGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAATGTTGATGGTCTTAAATTAGACTTAATATTAGTCCTTTAACAATTTACTGTTCCAGTAAAGATCCTTGAAAAAAACTTGAGCAATTTTCATCAAAATAAGTGAGGTCTCTTTTTTTCCTTGATGTGCAACTCACATAAAATTATTAGCTGTGGACTGGGTGTGGGGGCTCACACCTGTAATGCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGCCCAAGAGTTCAAGACAAGCCTGGGTAACACGGCAAAAGACCCCATCTCTACAAAAAAAAAAAAAAAAAAAAGTTATGAACTGTGGTCTCAAAATGTACTAGATTTTTCCATTCTCTTTCTCATGGAGAGAATGGTGGGGATGGTATTGGAGCCGTTCAAGGTTCAAAAGTTTAAGGCCTGGCACAATGGCTCACATCTGTCATCCTGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGATGTCAGGAGTTCAAGACCAGTCTGGGCAACATGGCAAAACCCCATCTCTACAAAAAAATGTAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCGAGAGGCTGAGGTAAGAGGATTGCCTAAGCCCAGGGAGGTTAAGACTGCGGTGAGCCAATATTGCACCACTGTACTCCAGGCTGGGTAGCAGAGTGAGACCCTGTCTCAAAAAAGAAAAAGCAACAGCAAAACAAAACCAAGGTTCAAAAGTTTGACCGTGATAGTTAATCCTGCATTGTCTCTGTTGTCTCCAGCTTCTGGTTGCTGCTGCTTAAAGTGATAAAGACAGAATTGAGGGGGTATTAAGTAGAAAAATCTAGTGAATACTCCATTCAGTGTAGGAGTGGCCCTAGGCCCATTTACCCTTAACATTTTTTTCTCTCTCCTTTTTAGCTATTTCAAGAAGCCCCTGAATATCTACTTTGGATTTATTCCTGAAATAATCTTCATGACCTCTTTGTTTGGCTATTTGGTTATCCTTATTTTTTACAAGTGGACGGCCTATGATGCTCATACCTCTGAGAATGCACCAAGCCTTCTGATCCATTTCATAAACATGTTCCTCTTTTCCTACCCAGAGTCTGGTTATTCAATGTTGTATTCTGGACAGGTACGTCAGCCCAGAGGCAGACTGTCTGAGATGATTATACTTGATCAGGAAGCCAGATGTTTCTCT |
Task1_train_24431 | A variant has been detected on Chromosome 17 in ATP6V0A1 (ATPase H+ transporting V0 subunit a1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Developmental and epileptic encephalopathy 104 | AATGAAAAAGGAAAGATGGAAGGAGAACCTGTAGTTTAGAGACTCAAGAGATATATCTACAATCATAATGTATAAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGACAGATGACTTGCGGTCAGGAAATTCCAGACCAGCCAGGGCAACATAGTGAAACCCCATCTCTACCAGAAGTATAAAAATTGGCCGGGTGTGGTGGTGCACGCCTGTAGTCCTAAGGCAGGAGGCTAAGGCAGGAGAACAGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGTAACTGCACTCCGGCCTGGGTGACAGAGTGAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAATGGTTTGGACACAGATCAGAGAAATTTGAATATTGACTATATATTTTATGATATTAAAGAATCATTGTTAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACGAGGTCAGGAGTTCAAGACCTGCCTGGCCAAGATGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCGTGGTGGCGAGCACCTGTAATTCCAGCTACTCGGGAAGTTGAGGCAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGTAGCGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTAAGACTCCATCTAAAAGAAAAAAAAAAAAAAGAAATCATTGTTAATGCATTTACGTGTGATGACAATATTGTGGTCATGTTTTAAAAATAAGTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAATTTGGGAGGCCAAGGCGGGCGGATCATGAGGTCAAGAGATCGAGACCTTCCTGGCTAACATGGTGAAAACCCCACCTTGCAATAGGCCGAGATTTCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGAGTTCATCTCAAAAAAAAAAGAAAAAAAAAAAAAGCCTTACTGGCCGGGCGCAGTGACTCAAGCCTGTAATCCAAGCAGTTTGGGAGGCCGAGGCAAGCCTCAGGCCAGACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGCATCGTGGCCTGTGCCTGTAATCCCAGCTACCTGGGAGGCTGAGGCAAGGCAGGAGGTGGAAGTTGCAGTCAGCGAGATCATGAACACTGCACTCCATCCTGGGCAAAAAGAGCGAAATTCCATCTCAATAAATAAATAAATAAATAAATAAGTCTTTTCCTTTTAGACATCCACACTGAAATATTTACAGGTAAAATGACATGATATCTGGACTTTTTAGTAATGTGGAGATGAGTGAGTGGCAGTAATCTTTTTTCATGACTATAAGGTGATGTTAATTTTTGAAGCATTCTCCTCAAAAGCAAGATTAAAAAAAAAAATTTTGTCGAAGCAGAGTGATAGGTGCCTGGGAGTTTGTTGTACCATCCTGTCTGCTTAAGTATCTGTTTAGAATTTTCCATAATAAATAATATTGATTAATAAATAAAAATTGTCGACCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCATGAATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATAGCTGGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGGCAGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCGTCTCTAAATAAATAAATAAATAAAAATTGTTTTTTAAACAGAGGAATATTTTTCCCTTTGAGAATTCTTTATAATACCTATTTGTTTTCTCGGGTTATGACAGATTTGGAACATTGCTACCAATAAACTGACGTTCTTGAACTCCTTTAAGATGAAGATGTCTGTTATCCTTGGTATCATCCATATGCTGTTTGGAGTCAGCCTGAGTCTGTTCAACCATATGTGAGTTGTTCCATTTCTGTCATAAGAATGTGCATAGTTTAGAGAATGCTTTTGTGTAAAGAAATCATGACATCTTTGGGGAGGGATTAATAACTCAGAACCTCATTCTACATTATAGAAGTGCTTTTCTAAAAATTTAATGGTGTGGCCAGGCGCGGTGGATCATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCCGGTGGATCACCTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCAGGTGTAGTGGCACGCGCCTATATTCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTCGCAGTGAGACAAGATGGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGACTCTGCCTCAAAAAAAATAAATAAATAAATAAATTTCATGGTCTGGCCGGGTGCAGTGGCTTACACTTGTAATCCAGCACTTTGGGAAGATGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCCACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGTGCACCTGTAATCCCAGCTACTCTGGTGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTAAACCAAGATAACACCACTGCACTCCAGTCGGGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAATGTTGATGGTCTTAAATTAGACTTAATATTAGTCCTTTAACAATTTACTGTTCCAGTAAAGATCCTTGAAAAAAACTTGAGCAATTTTCATCAAAATAAGTGAGGTCTCTTTTTTTCCTTGATGTGCAACTCACATAAAATTATTAGCTGTGGACTGGGTGTGGGGGCTCACACCTGTAATGCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGCCCAAGAGTTCAAGACAAGCCTGGGTAACACGGCAAAAGACCCCATCTCTACAAAAAAAAAAAAAAAAAAAAGTTATGAACTGTGGTCTCAAAATGTACTAGATTTTTCCATTCTCTTTCTCATGGAGAGAATGGTGGGGATGGTATTGGAGCCGTTCAAGGTTCAAAAGTTTAAGGCCTGGCACAATGGCTCACATCTGTCATCCTGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGATGTCAGGAGTTCAAGACCAGTCTGGGCAACATGGCAAAACCCCATCTCTACAAAAAAATGTAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCGAGAGGCTGAGGTAAGAGGATTGCCTAAGCCCAGGGAGGTTAAGACTGCGGTGAGCCAATATTGCACCACTGTACTCCAGGCTGGGTAGCAGAGTGAGACCCTGTCTCAAAAAAGAAAAAGCAACAGCAAAACAAAACCAAGGTTCAAAAGTTTGACCGTGATAGTTAATCCTGCATTGTCTCTGTTGTCTCCAGCTTCTGGTTGCTGCTGCTTAAAGTGATAAAGACAGAATTGAGGGGGTATTAAGTAGAAAAATCTAGTGAATACTCCATTCAGTGTAGGAGTGGCCCTAGGCCCATTTACCCTTAACATTTTTTTCTCTCTCCTTTTTAGCTATTTCAAGAAGCCCCTGAATATCTACTTTGGATTTATTCCTGAAATAATCTTCATGACCTCTTTGTTTGGCTATTTGGTTATCCTTATTTTTTACAAGTGGACGGCCTATGATGCTCATACCTCTGAGAATGCACCAAGCCTTCTGATCCATTTCATAAACATGTTCCTCTTTTCCTACCCAGAGTCTGGTTATTCAATGTTGTATTCTGGACAGGTACGTCAGCCCAGAGGCAGACTGTCTGAGATGATTATACTTGATCAGGAAGCCAGATGTTTCTCTGACCCTAAAAAATTTATAACTGCCCTTCTATGGGACAATTCTAGGGCTTTGC | AATGAAAAAGGAAAGATGGAAGGAGAACCTGTAGTTTAGAGACTCAAGAGATATATCTACAATCATAATGTATAAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGACAGATGACTTGCGGTCAGGAAATTCCAGACCAGCCAGGGCAACATAGTGAAACCCCATCTCTACCAGAAGTATAAAAATTGGCCGGGTGTGGTGGTGCACGCCTGTAGTCCTAAGGCAGGAGGCTAAGGCAGGAGAACAGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGTAACTGCACTCCGGCCTGGGTGACAGAGTGAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAATGGTTTGGACACAGATCAGAGAAATTTGAATATTGACTATATATTTTATGATATTAAAGAATCATTGTTAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACGAGGTCAGGAGTTCAAGACCTGCCTGGCCAAGATGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCGTGGTGGCGAGCACCTGTAATTCCAGCTACTCGGGAAGTTGAGGCAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGTAGCGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTAAGACTCCATCTAAAAGAAAAAAAAAAAAAAGAAATCATTGTTAATGCATTTACGTGTGATGACAATATTGTGGTCATGTTTTAAAAATAAGTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAATTTGGGAGGCCAAGGCGGGCGGATCATGAGGTCAAGAGATCGAGACCTTCCTGGCTAACATGGTGAAAACCCCACCTTGCAATAGGCCGAGATTTCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGAGTTCATCTCAAAAAAAAAAGAAAAAAAAAAAAAGCCTTACTGGCCGGGCGCAGTGACTCAAGCCTGTAATCCAAGCAGTTTGGGAGGCCGAGGCAAGCCTCAGGCCAGACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGCATCGTGGCCTGTGCCTGTAATCCCAGCTACCTGGGAGGCTGAGGCAAGGCAGGAGGTGGAAGTTGCAGTCAGCGAGATCATGAACACTGCACTCCATCCTGGGCAAAAAGAGCGAAATTCCATCTCAATAAATAAATAAATAAATAAATAAGTCTTTTCCTTTTAGACATCCACACTGAAATATTTACAGGTAAAATGACATGATATCTGGACTTTTTAGTAATGTGGAGATGAGTGAGTGGCAGTAATCTTTTTTCATGACTATAAGGTGATGTTAATTTTTGAAGCATTCTCCTCAAAAGCAAGATTAAAAAAAAAAATTTTGTCGAAGCAGAGTGATAGGTGCCTGGGAGTTTGTTGTACCATCCTGTCTGCTTAAGTATCTGTTTAGAATTTTCCATAATAAATAATATTGATTAATAAATAAAAATTGTCGACCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCATGAATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATAGCTGGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGGCAGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCGTCTCTAAATAAATAAATAAATAAAAATTGTTTTTTAAACAGAGGAATATTTTTCCCTTTGAGAATTCTTTATAATACCTATTTGTTTTCTCGGGTTATGACAGATTTGGAACATTGCTACCAATAAACTGACGTTCTTGAACTCCTTTAAGATGAAGATGTCTGTTATCCTTGATATCATCCATATGCTGTTTGGAGTCAGCCTGAGTCTGTTCAACCATATGTGAGTTGTTCCATTTCTGTCATAAGAATGTGCATAGTTTAGAGAATGCTTTTGTGTAAAGAAATCATGACATCTTTGGGGAGGGATTAATAACTCAGAACCTCATTCTACATTATAGAAGTGCTTTTCTAAAAATTTAATGGTGTGGCCAGGCGCGGTGGATCATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCCGGTGGATCACCTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCAGGTGTAGTGGCACGCGCCTATATTCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTCGCAGTGAGACAAGATGGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGACTCTGCCTCAAAAAAAATAAATAAATAAATAAATTTCATGGTCTGGCCGGGTGCAGTGGCTTACACTTGTAATCCAGCACTTTGGGAAGATGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCCACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGTGCACCTGTAATCCCAGCTACTCTGGTGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTAAACCAAGATAACACCACTGCACTCCAGTCGGGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAATGTTGATGGTCTTAAATTAGACTTAATATTAGTCCTTTAACAATTTACTGTTCCAGTAAAGATCCTTGAAAAAAACTTGAGCAATTTTCATCAAAATAAGTGAGGTCTCTTTTTTTCCTTGATGTGCAACTCACATAAAATTATTAGCTGTGGACTGGGTGTGGGGGCTCACACCTGTAATGCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGCCCAAGAGTTCAAGACAAGCCTGGGTAACACGGCAAAAGACCCCATCTCTACAAAAAAAAAAAAAAAAAAAAGTTATGAACTGTGGTCTCAAAATGTACTAGATTTTTCCATTCTCTTTCTCATGGAGAGAATGGTGGGGATGGTATTGGAGCCGTTCAAGGTTCAAAAGTTTAAGGCCTGGCACAATGGCTCACATCTGTCATCCTGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGATGTCAGGAGTTCAAGACCAGTCTGGGCAACATGGCAAAACCCCATCTCTACAAAAAAATGTAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCGAGAGGCTGAGGTAAGAGGATTGCCTAAGCCCAGGGAGGTTAAGACTGCGGTGAGCCAATATTGCACCACTGTACTCCAGGCTGGGTAGCAGAGTGAGACCCTGTCTCAAAAAAGAAAAAGCAACAGCAAAACAAAACCAAGGTTCAAAAGTTTGACCGTGATAGTTAATCCTGCATTGTCTCTGTTGTCTCCAGCTTCTGGTTGCTGCTGCTTAAAGTGATAAAGACAGAATTGAGGGGGTATTAAGTAGAAAAATCTAGTGAATACTCCATTCAGTGTAGGAGTGGCCCTAGGCCCATTTACCCTTAACATTTTTTTCTCTCTCCTTTTTAGCTATTTCAAGAAGCCCCTGAATATCTACTTTGGATTTATTCCTGAAATAATCTTCATGACCTCTTTGTTTGGCTATTTGGTTATCCTTATTTTTTACAAGTGGACGGCCTATGATGCTCATACCTCTGAGAATGCACCAAGCCTTCTGATCCATTTCATAAACATGTTCCTCTTTTCCTACCCAGAGTCTGGTTATTCAATGTTGTATTCTGGACAGGTACGTCAGCCCAGAGGCAGACTGTCTGAGATGATTATACTTGATCAGGAAGCCAGATGTTTCTCTGACCCTAAAAAATTTATAACTGCCCTTCTATGGGACAATTCTAGGGCTTTGC |
Task1_train_24432 | This variant affects gene ATP6V0A1 (ATPase H+ transporting V0 subunit a1) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Developmental and epileptic encephalopathy 104 | CCTGGGAGCCATGGACTTCTTCCTCTCAATGCGGGCCCTGGGGCGGCAGCCAGCAGTGGTAGGAAAGAGCTCTTAACCACGGTGTTGGGATTTAGGGAACTCAGGGAACTAGGATTACCCTAGTTTTCAGGGTAAGTAAGGAAGCTTGAAGAGCCTGTTCCGGAAGAAAAGCCCAGAAATAGGCTAGGTGTCGACAGAGGTGAGGGAGAAGCAGACGTTCGCCCAGAGATGGCATGGTGGAGCCAGCCCCCTCCACGCTGGCTGCACCCCTGTGGCCTGGGCTGTTGTGGCTTTACCAGCCAAGCCACTTTCTCCCATCCCCATGTTCTCAGTGATTTCCCAAGGCATTTCTGGTGTCCTTTGGGAGTGGAATCACGTGGGTTTTGAAAGGAACTGCGGTGAAAAATAGACCCTGACCTGAGGGCAGGGGCCGATGGGGAGGCCACTGAGCCCTCAGGAGTGTCTGAAAGCTCAGAAGATTCTGGTCTGGGCTCTGCGGGGGGAAGCCCCATAAGGGAGCGCCTCCTGGTCTTTGGTCAGCTTGACAGAGAGGCCCAGGGAAAGTACCTGGGGCTTCCAGAATATACCAAATTCAGAAGCCCACATTCACCCCTGACTGTGCTTGGAGCAAACCTGAAAGTTCACTCCCAAGAGCTTGTTCCAGCCCATTCCTTTATTCTGGAAATAATTCTTGGTATTGAAAGGAAAACTGGGACAAAGGGAGCTTGAGGAAAACGAAAACAAACAAGAAACTGGAGATATGCTATTTAGTCTTAACCCAAACAGATATGCTGTTTGGCCTTAACCCATGTGGAAATTTGTAAACTTTGTCAGGATTTCCCTGTGCATGGTGGTGAAATCATGTAGGGAAAAAAAAATTCACCGTGTAATCTCTTTAGAAGTCACAAAAGAAAAAGAAGGTTATCTTGCTCCCAAAAGGCTGTAAAAAGAATAAGTAAAGTGGCCATAGAGGCCTAGTCTTCTCAGGACAGTGTCCGGGTTGAGAGTCTGTCTCCTGAAGCGCACTCTGGGGAAAATCCCTTCCTGCCCTCCTGCAGGTCCTTAGGGTCCCAGACCCAGACAGTCACTTTCTCAACAGAGTGCCGTCAACTCAGCACACACTCCTCTCTTGAGCACAGAGCCCCAGAGGGAGAAGAACAAATGTGTTGAAAAGAATCTTATTAAGATGTAGTTAATTAAAATGTAATGTATTGAGGGGAATGGAGGTGTCCCAGGTGAGGGCTAAGTCAGGCAGGATTTTTGGGGAAGGCATTGCCGAAATCACCACCTGAGCTCAACACTGGGTGCTTCTGGCCCCTCCAGAGTTGAGGTGCCATCCATGGGAAGTGCAGTCCCCTGCCCTGGCCCAGGTTCAAAGCGCCAAGTAGCCACAACTCAGAATGCCTGCACGTTCCCCTCCTAGCCTTATATCTTCTCTCTGGTTTCCTCCCACGACAGTTTGACTTTGGGGACACCATGGTCCACCAGGCCATCCACACCATCGAGTACTGCCTGGGCTGCATCTCCAACACTGCCTCCTACTTGCGGCTCTGGGCCCTCAGCCTCGCTCATGCGCGTGAGTACCTCTCTCCGGGCTCCGGAACTCTAGTTTCCCCCTCTGTGGGCGCACTGTCAGTTGGGGGGCTTAAGTCAAATGGAAATTACATGAAGGTTCTGGAATTATTCAGGTTCCTGAACCCAAGGAGAATGAGTACAGACAGGAGGCTCAGCACTTGTGCCAGGTTAGCTCTGCATGGTGGTCCCACTAAGGCAGTGGGAAGCCAGGATCCAGGGAACCCTAGAGCAGGGGGATGGCAGAGCAAAATTCATGGCCTACAGCTGCCTCTTGCCAAACTGCACTGGATTTTGTGTCTCCCATTCCCCAGAGCTGTCTGAGGTGCTTTGGACCATGGTGATCCACATCGGCCTGAGCGTGAAGAGCTTGGCGGGAGGTTTGGTGCTGTTCTTCTTCTTCACTGCCTTTGCCACCCTGACCGTGGCCATCCTCCTGATCATGGAGGGCCTCTCGGCCTTTCTCCACGCACTGCGCTTACACTGGTGAGGGGCAGTGGGGCAGGGCGGGCATGGGGGTGGATGTGTCCTTAGCTGCGGTGAGAGGGCAGCTTTTCTCCCACACACAGCCCTGCAGCTCTGTGCAGGAAAGATGAGCTGGCCCTGCACTAGCTTCACCTCAGGACACCCCAGCACCGGCATTGCCACAGAGTTTCGGAAAATGGTCACAGAAAAGCACAGCTCAGCCTTCCCTAGGCTCTAGGGAGATGTCCCTGGTGAGTGGTGTCAGGTCCCGCTCCCTGCCTTTAGCTGTCCCCAGTGCTCCTGATTTTGGCTTAAAGGGGCTGCTGGGGTCTTAGGGTTTCTGGTTTTCTCTCTGATGTGTAACTCTTCTGTCTTCAGAACAGTGGAAGCAGCTCTGGAATGTATGTTAAGTGCAGGAAAGGCTAGAACACGCTGCACCCCAGCTTTATCCTCTTTGTTCTGTCATTGTGCCAGGGGTCTTTGAGTTGGACCCCTGGCAGCTCCATTGTGGACCGGAGGGATTCCTGGCTCTATAGGGTGGAGGTCGGTACACTCACGCAGCTTCTTCACATGGGCAGGTTTGGGGTGGTTCTGTTTGTTTTCTTTAATGAAGCTTGTGACTCTTAATGGCTGTGTGTGGAGAGAGCATGAGTTCAGCCTCTGGGACTGGGAGAGCGGGGGTGTGGTCTGGGCTGTGACCACCTCAAACCAGCGTTGCCAGATGTAGCACATAAAAGTACAGTTTGGCTGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTAAGGCAGGTGAATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAATATACAAAAATTAGCCAGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAAAGAATCTCTTAAACCCAGGAGGCAGGGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATAGGGGAGGGGTTGGGGGCCAGGCACGGTGGTTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTGGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACGCTGTCTCTACTAAAAATACAAAAACATTAGCCGGGCATGGTGGTGCATGCCTGGAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCATTGAGCCAAGATCGCGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCGGTCTCAAAAAATAAAAATACAGGGTGTATTTCACATAAACAACAAATAATTTTTTTAGTATGAGTATTTCCCAAATGTGCATGGGATATGCTTATACTAAAAACTGGGGCAGTCTGTATTTTCTGTGGCTGTTCCACCTCAGACTCCACTTCTTTGGGTCTCTATTTTCTCCTTTATGTTGTGATTCTCTTTTTGGGGGTCTCAAAACCCCAATGTCTCTGGAAGTTCTGGCCCCTCTCCCCAGAGGAGCACTCACACACTTCTCCTGTTTTACAAGCATAGGGGTCTGACTCACTGGTGTGCCTTAGAGGCCCCTGGATGGGATGCTCTGTGGTGTTCATGATCTCAAGGCCAGAAGAGGACTATGAATGTCTCTCTTCGTTCTCAAAACCTGAAGAAAATCCAGCATCTGAACCTGAGAAACTCATTCCCCACTCCCCTTTATCTTTGATTATTCTCATGGCTGGGTGACCCCTGAGCCTCCTCAAAGATTCAGCTGTGGGTTTTTCTGAATGATGGGCGGAGAGTGAGGCATGGAAGGGCAAGACGTGGCTAGGGTGCACTCTTCTTCAAAAGCCCTGCTGCGTCAGTAGACCTGGCTTCCTCTGGCCTGGCTCTCTCCCTCCTGGCCTCCCTCCTCCCCACCCAGCTCATCTGGCTGGCCTCCCTGTTCTAAGCTTATCAGCCGACCCCCGCAAGCACACTTCCTCAGCCC | CCTGGGAGCCATGGACTTCTTCCTCTCAATGCGGGCCCTGGGGCGGCAGCCAGCAGTGGTAGGAAAGAGCTCTTAACCACGGTGTTGGGATTTAGGGAACTCAGGGAACTAGGATTACCCTAGTTTTCAGGGTAAGTAAGGAAGCTTGAAGAGCCTGTTCCGGAAGAAAAGCCCAGAAATAGGCTAGGTGTCGACAGAGGTGAGGGAGAAGCAGACGTTCGCCCAGAGATGGCATGGTGGAGCCAGCCCCCTCCACGCTGGCTGCACCCCTGTGGCCTGGGCTGTTGTGGCTTTACCAGCCAAGCCACTTTCTCCCATCCCCATGTTCTCAGTGATTTCCCAAGGCATTTCTGGTGTCCTTTGGGAGTGGAATCACGTGGGTTTTGAAAGGAACTGCGGTGAAAAATAGACCCTGACCTGAGGGCAGGGGCCGATGGGGAGGCCACTGAGCCCTCAGGAGTGTCTGAAAGCTCAGAAGATTCTGGTCTGGGCTCTGCGGGGGGAAGCCCCATAAGGGAGCGCCTCCTGGTCTTTGGTCAGCTTGACAGAGAGGCCCAGGGAAAGTACCTGGGGCTTCCAGAATATACCAAATTCAGAAGCCCACATTCACCCCTGACTGTGCTTGGAGCAAACCTGAAAGTTCACTCCCAAGAGCTTGTTCCAGCCCATTCCTTTATTCTGGAAATAATTCTTGGTATTGAAAGGAAAACTGGGACAAAGGGAGCTTGAGGAAAACGAAAACAAACAAGAAACTGGAGATATGCTATTTAGTCTTAACCCAAACAGATATGCTGTTTGGCCTTAACCCATGTGGAAATTTGTAAACTTTGTCAGGATTTCCCTGTGCATGGTGGTGAAATCATGTAGGGAAAAAAAAATTCACCGTGTAATCTCTTTAGAAGTCACAAAAGAAAAAGAAGGTTATCTTGCTCCCAAAAGGCTGTAAAAAGAATAAGTAAAGTGGCCATAGAGGCCTAGTCTTCTCAGGACAGTGTCCGGGTTGAGAGTCTGTCTCCTGAAGCGCACTCTGGGGAAAATCCCTTCCTGCCCTCCTGCAGGTCCTTAGGGTCCCAGACCCAGACAGTCACTTTCTCAACAGAGTGCCGTCAACTCAGCACACACTCCTCTCTTGAGCACAGAGCCCCAGAGGGAGAAGAACAAATGTGTTGAAAAGAATCTTATTAAGATGTAGTTAATTAAAATGTAATGTATTGAGGGGAATGGAGGTGTCCCAGGTGAGGGCTAAGTCAGGCAGGATTTTTGGGGAAGGCATTGCCGAAATCACCACCTGAGCTCAACACTGGGTGCTTCTGGCCCCTCCAGAGTTGAGGTGCCATCCATGGGAAGTGCAGTCCCCTGCCCTGGCCCAGGTTCAAAGCGCCAAGTAGCCACAACTCAGAATGCCTGCACGTTCCCCTCCTAGCCTTATATCTTCTCTCTGGTTTCCTCCCACGACAGTTTGACTTTGGGGACACCATGGTCCACCAGGCCATCCACACCATCGAGTACTGCCTGGGCTGCATCTCCAACACTGCCTCCTACTTGCGGCTCTGGGCCCTCAGCCTCGCTCATGCGCGTGAGTACCTCTCTCCGGGCTCCGGAACTCTAGTTTCCCCCTCTGTGGGCGCACTGTCAGTTGGGGGGCTTAAGTCAAATGGAAATTACATGAAGGTTCTGGAATTATTCAGGTTCCTGAACCCAAGGAGAATGAGTACAGACAGGAGGCTCAGCACTTGTGCCAGGTTAGCTCTGCATGGTGGTCCCACTAAGGCAGTGGGAAGCCAGGATCCAGGGAACCCTAGAGCAGGGGGATGGCAGAGCAAAATTCATGGCCTACAGCTGCCTCTTGCCAAACTGCACTGGATTTTGTGTCTCCCATTCCCCAGAGCTGTCTGAGGTGCTTTGGACCATGGTGATCCACATCGGCCTGAGCGTGAAGAGCTTGGCGGGAGGTTTGGTGCTGTTCTTCTTCTTCACTGCCTTTGCCACCCTGACCGTGGCCATCCTCCTGATCATGGAGGGCCTCTCGGCCTTTCTCCACGCACTGCACTTACACTGGTGAGGGGCAGTGGGGCAGGGCGGGCATGGGGGTGGATGTGTCCTTAGCTGCGGTGAGAGGGCAGCTTTTCTCCCACACACAGCCCTGCAGCTCTGTGCAGGAAAGATGAGCTGGCCCTGCACTAGCTTCACCTCAGGACACCCCAGCACCGGCATTGCCACAGAGTTTCGGAAAATGGTCACAGAAAAGCACAGCTCAGCCTTCCCTAGGCTCTAGGGAGATGTCCCTGGTGAGTGGTGTCAGGTCCCGCTCCCTGCCTTTAGCTGTCCCCAGTGCTCCTGATTTTGGCTTAAAGGGGCTGCTGGGGTCTTAGGGTTTCTGGTTTTCTCTCTGATGTGTAACTCTTCTGTCTTCAGAACAGTGGAAGCAGCTCTGGAATGTATGTTAAGTGCAGGAAAGGCTAGAACACGCTGCACCCCAGCTTTATCCTCTTTGTTCTGTCATTGTGCCAGGGGTCTTTGAGTTGGACCCCTGGCAGCTCCATTGTGGACCGGAGGGATTCCTGGCTCTATAGGGTGGAGGTCGGTACACTCACGCAGCTTCTTCACATGGGCAGGTTTGGGGTGGTTCTGTTTGTTTTCTTTAATGAAGCTTGTGACTCTTAATGGCTGTGTGTGGAGAGAGCATGAGTTCAGCCTCTGGGACTGGGAGAGCGGGGGTGTGGTCTGGGCTGTGACCACCTCAAACCAGCGTTGCCAGATGTAGCACATAAAAGTACAGTTTGGCTGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTAAGGCAGGTGAATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAATATACAAAAATTAGCCAGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAAAGAATCTCTTAAACCCAGGAGGCAGGGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATAGGGGAGGGGTTGGGGGCCAGGCACGGTGGTTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTGGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACGCTGTCTCTACTAAAAATACAAAAACATTAGCCGGGCATGGTGGTGCATGCCTGGAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCATTGAGCCAAGATCGCGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCGGTCTCAAAAAATAAAAATACAGGGTGTATTTCACATAAACAACAAATAATTTTTTTAGTATGAGTATTTCCCAAATGTGCATGGGATATGCTTATACTAAAAACTGGGGCAGTCTGTATTTTCTGTGGCTGTTCCACCTCAGACTCCACTTCTTTGGGTCTCTATTTTCTCCTTTATGTTGTGATTCTCTTTTTGGGGGTCTCAAAACCCCAATGTCTCTGGAAGTTCTGGCCCCTCTCCCCAGAGGAGCACTCACACACTTCTCCTGTTTTACAAGCATAGGGGTCTGACTCACTGGTGTGCCTTAGAGGCCCCTGGATGGGATGCTCTGTGGTGTTCATGATCTCAAGGCCAGAAGAGGACTATGAATGTCTCTCTTCGTTCTCAAAACCTGAAGAAAATCCAGCATCTGAACCTGAGAAACTCATTCCCCACTCCCCTTTATCTTTGATTATTCTCATGGCTGGGTGACCCCTGAGCCTCCTCAAAGATTCAGCTGTGGGTTTTTCTGAATGATGGGCGGAGAGTGAGGCATGGAAGGGCAAGACGTGGCTAGGGTGCACTCTTCTTCAAAAGCCCTGCTGCGTCAGTAGACCTGGCTTCCTCTGGCCTGGCTCTCTCCCTCCTGGCCTCCCTCCTCCCCACCCAGCTCATCTGGCTGGCCTCCCTGTTCTAAGCTTATCAGCCGACCCCCGCAAGCACACTTCCTCAGCCC |
Task1_train_24433 | Assess the clinical impact of this variant on gene ATP6V0A1 (ATPase H+ transporting V0 subunit a1), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Neurodevelopmental disorder with epilepsy and brain atrophy | CCTGGGAGCCATGGACTTCTTCCTCTCAATGCGGGCCCTGGGGCGGCAGCCAGCAGTGGTAGGAAAGAGCTCTTAACCACGGTGTTGGGATTTAGGGAACTCAGGGAACTAGGATTACCCTAGTTTTCAGGGTAAGTAAGGAAGCTTGAAGAGCCTGTTCCGGAAGAAAAGCCCAGAAATAGGCTAGGTGTCGACAGAGGTGAGGGAGAAGCAGACGTTCGCCCAGAGATGGCATGGTGGAGCCAGCCCCCTCCACGCTGGCTGCACCCCTGTGGCCTGGGCTGTTGTGGCTTTACCAGCCAAGCCACTTTCTCCCATCCCCATGTTCTCAGTGATTTCCCAAGGCATTTCTGGTGTCCTTTGGGAGTGGAATCACGTGGGTTTTGAAAGGAACTGCGGTGAAAAATAGACCCTGACCTGAGGGCAGGGGCCGATGGGGAGGCCACTGAGCCCTCAGGAGTGTCTGAAAGCTCAGAAGATTCTGGTCTGGGCTCTGCGGGGGGAAGCCCCATAAGGGAGCGCCTCCTGGTCTTTGGTCAGCTTGACAGAGAGGCCCAGGGAAAGTACCTGGGGCTTCCAGAATATACCAAATTCAGAAGCCCACATTCACCCCTGACTGTGCTTGGAGCAAACCTGAAAGTTCACTCCCAAGAGCTTGTTCCAGCCCATTCCTTTATTCTGGAAATAATTCTTGGTATTGAAAGGAAAACTGGGACAAAGGGAGCTTGAGGAAAACGAAAACAAACAAGAAACTGGAGATATGCTATTTAGTCTTAACCCAAACAGATATGCTGTTTGGCCTTAACCCATGTGGAAATTTGTAAACTTTGTCAGGATTTCCCTGTGCATGGTGGTGAAATCATGTAGGGAAAAAAAAATTCACCGTGTAATCTCTTTAGAAGTCACAAAAGAAAAAGAAGGTTATCTTGCTCCCAAAAGGCTGTAAAAAGAATAAGTAAAGTGGCCATAGAGGCCTAGTCTTCTCAGGACAGTGTCCGGGTTGAGAGTCTGTCTCCTGAAGCGCACTCTGGGGAAAATCCCTTCCTGCCCTCCTGCAGGTCCTTAGGGTCCCAGACCCAGACAGTCACTTTCTCAACAGAGTGCCGTCAACTCAGCACACACTCCTCTCTTGAGCACAGAGCCCCAGAGGGAGAAGAACAAATGTGTTGAAAAGAATCTTATTAAGATGTAGTTAATTAAAATGTAATGTATTGAGGGGAATGGAGGTGTCCCAGGTGAGGGCTAAGTCAGGCAGGATTTTTGGGGAAGGCATTGCCGAAATCACCACCTGAGCTCAACACTGGGTGCTTCTGGCCCCTCCAGAGTTGAGGTGCCATCCATGGGAAGTGCAGTCCCCTGCCCTGGCCCAGGTTCAAAGCGCCAAGTAGCCACAACTCAGAATGCCTGCACGTTCCCCTCCTAGCCTTATATCTTCTCTCTGGTTTCCTCCCACGACAGTTTGACTTTGGGGACACCATGGTCCACCAGGCCATCCACACCATCGAGTACTGCCTGGGCTGCATCTCCAACACTGCCTCCTACTTGCGGCTCTGGGCCCTCAGCCTCGCTCATGCGCGTGAGTACCTCTCTCCGGGCTCCGGAACTCTAGTTTCCCCCTCTGTGGGCGCACTGTCAGTTGGGGGGCTTAAGTCAAATGGAAATTACATGAAGGTTCTGGAATTATTCAGGTTCCTGAACCCAAGGAGAATGAGTACAGACAGGAGGCTCAGCACTTGTGCCAGGTTAGCTCTGCATGGTGGTCCCACTAAGGCAGTGGGAAGCCAGGATCCAGGGAACCCTAGAGCAGGGGGATGGCAGAGCAAAATTCATGGCCTACAGCTGCCTCTTGCCAAACTGCACTGGATTTTGTGTCTCCCATTCCCCAGAGCTGTCTGAGGTGCTTTGGACCATGGTGATCCACATCGGCCTGAGCGTGAAGAGCTTGGCGGGAGGTTTGGTGCTGTTCTTCTTCTTCACTGCCTTTGCCACCCTGACCGTGGCCATCCTCCTGATCATGGAGGGCCTCTCGGCCTTTCTCCACGCACTGCGCTTACACTGGTGAGGGGCAGTGGGGCAGGGCGGGCATGGGGGTGGATGTGTCCTTAGCTGCGGTGAGAGGGCAGCTTTTCTCCCACACACAGCCCTGCAGCTCTGTGCAGGAAAGATGAGCTGGCCCTGCACTAGCTTCACCTCAGGACACCCCAGCACCGGCATTGCCACAGAGTTTCGGAAAATGGTCACAGAAAAGCACAGCTCAGCCTTCCCTAGGCTCTAGGGAGATGTCCCTGGTGAGTGGTGTCAGGTCCCGCTCCCTGCCTTTAGCTGTCCCCAGTGCTCCTGATTTTGGCTTAAAGGGGCTGCTGGGGTCTTAGGGTTTCTGGTTTTCTCTCTGATGTGTAACTCTTCTGTCTTCAGAACAGTGGAAGCAGCTCTGGAATGTATGTTAAGTGCAGGAAAGGCTAGAACACGCTGCACCCCAGCTTTATCCTCTTTGTTCTGTCATTGTGCCAGGGGTCTTTGAGTTGGACCCCTGGCAGCTCCATTGTGGACCGGAGGGATTCCTGGCTCTATAGGGTGGAGGTCGGTACACTCACGCAGCTTCTTCACATGGGCAGGTTTGGGGTGGTTCTGTTTGTTTTCTTTAATGAAGCTTGTGACTCTTAATGGCTGTGTGTGGAGAGAGCATGAGTTCAGCCTCTGGGACTGGGAGAGCGGGGGTGTGGTCTGGGCTGTGACCACCTCAAACCAGCGTTGCCAGATGTAGCACATAAAAGTACAGTTTGGCTGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTAAGGCAGGTGAATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAATATACAAAAATTAGCCAGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAAAGAATCTCTTAAACCCAGGAGGCAGGGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATAGGGGAGGGGTTGGGGGCCAGGCACGGTGGTTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTGGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACGCTGTCTCTACTAAAAATACAAAAACATTAGCCGGGCATGGTGGTGCATGCCTGGAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCATTGAGCCAAGATCGCGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCGGTCTCAAAAAATAAAAATACAGGGTGTATTTCACATAAACAACAAATAATTTTTTTAGTATGAGTATTTCCCAAATGTGCATGGGATATGCTTATACTAAAAACTGGGGCAGTCTGTATTTTCTGTGGCTGTTCCACCTCAGACTCCACTTCTTTGGGTCTCTATTTTCTCCTTTATGTTGTGATTCTCTTTTTGGGGGTCTCAAAACCCCAATGTCTCTGGAAGTTCTGGCCCCTCTCCCCAGAGGAGCACTCACACACTTCTCCTGTTTTACAAGCATAGGGGTCTGACTCACTGGTGTGCCTTAGAGGCCCCTGGATGGGATGCTCTGTGGTGTTCATGATCTCAAGGCCAGAAGAGGACTATGAATGTCTCTCTTCGTTCTCAAAACCTGAAGAAAATCCAGCATCTGAACCTGAGAAACTCATTCCCCACTCCCCTTTATCTTTGATTATTCTCATGGCTGGGTGACCCCTGAGCCTCCTCAAAGATTCAGCTGTGGGTTTTTCTGAATGATGGGCGGAGAGTGAGGCATGGAAGGGCAAGACGTGGCTAGGGTGCACTCTTCTTCAAAAGCCCTGCTGCGTCAGTAGACCTGGCTTCCTCTGGCCTGGCTCTCTCCCTCCTGGCCTCCCTCCTCCCCACCCAGCTCATCTGGCTGGCCTCCCTGTTCTAAGCTTATCAGCCGACCCCCGCAAGCACACTTCCTCAGCCC | CCTGGGAGCCATGGACTTCTTCCTCTCAATGCGGGCCCTGGGGCGGCAGCCAGCAGTGGTAGGAAAGAGCTCTTAACCACGGTGTTGGGATTTAGGGAACTCAGGGAACTAGGATTACCCTAGTTTTCAGGGTAAGTAAGGAAGCTTGAAGAGCCTGTTCCGGAAGAAAAGCCCAGAAATAGGCTAGGTGTCGACAGAGGTGAGGGAGAAGCAGACGTTCGCCCAGAGATGGCATGGTGGAGCCAGCCCCCTCCACGCTGGCTGCACCCCTGTGGCCTGGGCTGTTGTGGCTTTACCAGCCAAGCCACTTTCTCCCATCCCCATGTTCTCAGTGATTTCCCAAGGCATTTCTGGTGTCCTTTGGGAGTGGAATCACGTGGGTTTTGAAAGGAACTGCGGTGAAAAATAGACCCTGACCTGAGGGCAGGGGCCGATGGGGAGGCCACTGAGCCCTCAGGAGTGTCTGAAAGCTCAGAAGATTCTGGTCTGGGCTCTGCGGGGGGAAGCCCCATAAGGGAGCGCCTCCTGGTCTTTGGTCAGCTTGACAGAGAGGCCCAGGGAAAGTACCTGGGGCTTCCAGAATATACCAAATTCAGAAGCCCACATTCACCCCTGACTGTGCTTGGAGCAAACCTGAAAGTTCACTCCCAAGAGCTTGTTCCAGCCCATTCCTTTATTCTGGAAATAATTCTTGGTATTGAAAGGAAAACTGGGACAAAGGGAGCTTGAGGAAAACGAAAACAAACAAGAAACTGGAGATATGCTATTTAGTCTTAACCCAAACAGATATGCTGTTTGGCCTTAACCCATGTGGAAATTTGTAAACTTTGTCAGGATTTCCCTGTGCATGGTGGTGAAATCATGTAGGGAAAAAAAAATTCACCGTGTAATCTCTTTAGAAGTCACAAAAGAAAAAGAAGGTTATCTTGCTCCCAAAAGGCTGTAAAAAGAATAAGTAAAGTGGCCATAGAGGCCTAGTCTTCTCAGGACAGTGTCCGGGTTGAGAGTCTGTCTCCTGAAGCGCACTCTGGGGAAAATCCCTTCCTGCCCTCCTGCAGGTCCTTAGGGTCCCAGACCCAGACAGTCACTTTCTCAACAGAGTGCCGTCAACTCAGCACACACTCCTCTCTTGAGCACAGAGCCCCAGAGGGAGAAGAACAAATGTGTTGAAAAGAATCTTATTAAGATGTAGTTAATTAAAATGTAATGTATTGAGGGGAATGGAGGTGTCCCAGGTGAGGGCTAAGTCAGGCAGGATTTTTGGGGAAGGCATTGCCGAAATCACCACCTGAGCTCAACACTGGGTGCTTCTGGCCCCTCCAGAGTTGAGGTGCCATCCATGGGAAGTGCAGTCCCCTGCCCTGGCCCAGGTTCAAAGCGCCAAGTAGCCACAACTCAGAATGCCTGCACGTTCCCCTCCTAGCCTTATATCTTCTCTCTGGTTTCCTCCCACGACAGTTTGACTTTGGGGACACCATGGTCCACCAGGCCATCCACACCATCGAGTACTGCCTGGGCTGCATCTCCAACACTGCCTCCTACTTGCGGCTCTGGGCCCTCAGCCTCGCTCATGCGCGTGAGTACCTCTCTCCGGGCTCCGGAACTCTAGTTTCCCCCTCTGTGGGCGCACTGTCAGTTGGGGGGCTTAAGTCAAATGGAAATTACATGAAGGTTCTGGAATTATTCAGGTTCCTGAACCCAAGGAGAATGAGTACAGACAGGAGGCTCAGCACTTGTGCCAGGTTAGCTCTGCATGGTGGTCCCACTAAGGCAGTGGGAAGCCAGGATCCAGGGAACCCTAGAGCAGGGGGATGGCAGAGCAAAATTCATGGCCTACAGCTGCCTCTTGCCAAACTGCACTGGATTTTGTGTCTCCCATTCCCCAGAGCTGTCTGAGGTGCTTTGGACCATGGTGATCCACATCGGCCTGAGCGTGAAGAGCTTGGCGGGAGGTTTGGTGCTGTTCTTCTTCTTCACTGCCTTTGCCACCCTGACCGTGGCCATCCTCCTGATCATGGAGGGCCTCTCGGCCTTTCTCCACGCACTGCACTTACACTGGTGAGGGGCAGTGGGGCAGGGCGGGCATGGGGGTGGATGTGTCCTTAGCTGCGGTGAGAGGGCAGCTTTTCTCCCACACACAGCCCTGCAGCTCTGTGCAGGAAAGATGAGCTGGCCCTGCACTAGCTTCACCTCAGGACACCCCAGCACCGGCATTGCCACAGAGTTTCGGAAAATGGTCACAGAAAAGCACAGCTCAGCCTTCCCTAGGCTCTAGGGAGATGTCCCTGGTGAGTGGTGTCAGGTCCCGCTCCCTGCCTTTAGCTGTCCCCAGTGCTCCTGATTTTGGCTTAAAGGGGCTGCTGGGGTCTTAGGGTTTCTGGTTTTCTCTCTGATGTGTAACTCTTCTGTCTTCAGAACAGTGGAAGCAGCTCTGGAATGTATGTTAAGTGCAGGAAAGGCTAGAACACGCTGCACCCCAGCTTTATCCTCTTTGTTCTGTCATTGTGCCAGGGGTCTTTGAGTTGGACCCCTGGCAGCTCCATTGTGGACCGGAGGGATTCCTGGCTCTATAGGGTGGAGGTCGGTACACTCACGCAGCTTCTTCACATGGGCAGGTTTGGGGTGGTTCTGTTTGTTTTCTTTAATGAAGCTTGTGACTCTTAATGGCTGTGTGTGGAGAGAGCATGAGTTCAGCCTCTGGGACTGGGAGAGCGGGGGTGTGGTCTGGGCTGTGACCACCTCAAACCAGCGTTGCCAGATGTAGCACATAAAAGTACAGTTTGGCTGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTAAGGCAGGTGAATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAATATACAAAAATTAGCCAGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAAAGAATCTCTTAAACCCAGGAGGCAGGGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATAGGGGAGGGGTTGGGGGCCAGGCACGGTGGTTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTGGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACGCTGTCTCTACTAAAAATACAAAAACATTAGCCGGGCATGGTGGTGCATGCCTGGAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCATTGAGCCAAGATCGCGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCGGTCTCAAAAAATAAAAATACAGGGTGTATTTCACATAAACAACAAATAATTTTTTTAGTATGAGTATTTCCCAAATGTGCATGGGATATGCTTATACTAAAAACTGGGGCAGTCTGTATTTTCTGTGGCTGTTCCACCTCAGACTCCACTTCTTTGGGTCTCTATTTTCTCCTTTATGTTGTGATTCTCTTTTTGGGGGTCTCAAAACCCCAATGTCTCTGGAAGTTCTGGCCCCTCTCCCCAGAGGAGCACTCACACACTTCTCCTGTTTTACAAGCATAGGGGTCTGACTCACTGGTGTGCCTTAGAGGCCCCTGGATGGGATGCTCTGTGGTGTTCATGATCTCAAGGCCAGAAGAGGACTATGAATGTCTCTCTTCGTTCTCAAAACCTGAAGAAAATCCAGCATCTGAACCTGAGAAACTCATTCCCCACTCCCCTTTATCTTTGATTATTCTCATGGCTGGGTGACCCCTGAGCCTCCTCAAAGATTCAGCTGTGGGTTTTTCTGAATGATGGGCGGAGAGTGAGGCATGGAAGGGCAAGACGTGGCTAGGGTGCACTCTTCTTCAAAAGCCCTGCTGCGTCAGTAGACCTGGCTTCCTCTGGCCTGGCTCTCTCCCTCCTGGCCTCCCTCCTCCCCACCCAGCTCATCTGGCTGGCCTCCCTGTTCTAAGCTTATCAGCCGACCCCCGCAAGCACACTTCCTCAGCCC |
Task1_train_24434 | With a mutation on Chromosome 17 in gene LOC130060903, NAGLU (ATAC-STARR-seq lymphoblastoid silent region 8533| N-acetyl-alpha-glucosaminidase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Mucopolysaccharidosis, MPS-III-B | AGTTCGAGACCAGCCTGGACAACATGGTGAAATCCCATCCCTACAAAGGTTAACTGGGCTTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGACTGAGACAGGAGAATGGCTTGAACCTGGGTGGCTGAGGTTCCCGTGAGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTG | AGTTCGAGACCAGCCTGGACAACATGGTGAAATCCCATCCCTACAAAGGTTAACTGGGCTTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGACTGAGACAGGAGAATGGCTTGAACCTGGGTGGCTGAGGTTCCCGTGAGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCGTGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTG |
Task1_train_24435 | A mutation found in LOC130060903, NAGLU (ATAC-STARR-seq lymphoblastoid silent region 8533| N-acetyl-alpha-glucosaminidase) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | AGTTCGAGACCAGCCTGGACAACATGGTGAAATCCCATCCCTACAAAGGTTAACTGGGCTTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGACTGAGACAGGAGAATGGCTTGAACCTGGGTGGCTGAGGTTCCCGTGAGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTG | AGTTCGAGACCAGCCTGGACAACATGGTGAAATCCCATCCCTACAAAGGTTAACTGGGCTTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGACTGAGACAGGAGAATGGCTTGAACCTGGGTGGCTGAGGTTCCCGTGAGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCGTGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTG |
Task1_train_24436 | Assess the clinical impact of this variant on gene LOC130060903, NAGLU (ATAC-STARR-seq lymphoblastoid silent region 8533| N-acetyl-alpha-glucosaminidase), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | TTCGAGACCAGCCTGGACAACATGGTGAAATCCCATCCCTACAAAGGTTAACTGGGCTTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGACTGAGACAGGAGAATGGCTTGAACCTGGGTGGCTGAGGTTCCCGTGAGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTG | TTCGAGACCAGCCTGGACAACATGGTGAAATCCCATCCCTACAAAGGTTAACTGGGCTTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGACTGAGACAGGAGAATGGCTTGAACCTGGGTGGCTGAGGTTCCCGTGAGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATAGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTG |
Task1_train_24437 | This mutation is located in gene LOC130060903, NAGLU (ATAC-STARR-seq lymphoblastoid silent region 8533| N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | TTCGAGACCAGCCTGGACAACATGGTGAAATCCCATCCCTACAAAGGTTAACTGGGCTTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGACTGAGACAGGAGAATGGCTTGAACCTGGGTGGCTGAGGTTCCCGTGAGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTG | TTCGAGACCAGCCTGGACAACATGGTGAAATCCCATCCCTACAAAGGTTAACTGGGCTTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGACTGAGACAGGAGAATGGCTTGAACCTGGGTGGCTGAGGTTCCCGTGAGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATAGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTG |
Task1_train_24438 | Given this context: Chromosome 17, gene LOC130060903, NAGLU (ATAC-STARR-seq lymphoblastoid silent region 8533| N-acetyl-alpha-glucosaminidase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | TGAGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGG | TGAGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACCTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGG |
Task1_train_24439 | A variant was discovered on Chromosome 17, affecting LOC130060903, NAGLU (ATAC-STARR-seq lymphoblastoid silent region 8533| N-acetyl-alpha-glucosaminidase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Mucopolysaccharidosis, MPS-III-B | TGAGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGG | TGAGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACCTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGG |
Task1_train_24440 | A mutation on Chromosome 17 affecting LOC130060903, NAGLU (ATAC-STARR-seq lymphoblastoid silent region 8533| N-acetyl-alpha-glucosaminidase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | AGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCA | AGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTATCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCA |
Task1_train_24441 | The gene LOC130060903, NAGLU (ATAC-STARR-seq lymphoblastoid silent region 8533| N-acetyl-alpha-glucosaminidase) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | AGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCA | AGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTATCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCA |
Task1_train_24442 | A variant has been detected on Chromosome 17 in LOC130060903, NAGLU (ATAC-STARR-seq lymphoblastoid silent region 8533| N-acetyl-alpha-glucosaminidase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | TGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATT | TGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCTGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATT |
Task1_train_24443 | Gene LOC130060903, NAGLU (ATAC-STARR-seq lymphoblastoid silent region 8533| N-acetyl-alpha-glucosaminidase) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Mucopolysaccharidosis, MPS-III-B | TGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATT | TGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCTGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATT |
Task1_train_24444 | The gene NAGLU, LOC130060903 (N-acetyl-alpha-glucosaminidase| ATAC-STARR-seq lymphoblastoid silent region 8533) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | ATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCC | ATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGACGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCC |
Task1_train_24445 | This alteration occurs within gene NAGLU (N-acetyl-alpha-glucosaminidase) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Mucopolysaccharidosistype IIIB | ATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCCCAGGGCTCTTAACTGAGGCGGGGGGCTGCGTGTATCCTGGGAGATG | ATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGGGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCCCAGGGCTCTTAACTGAGGCGGGGGGCTGCGTGTATCCTGGGAGATG |
Task1_train_24446 | This variant lies on Chromosome 17 and affects the gene NAGLU (N-acetyl-alpha-glucosaminidase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | ATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCCCAGGGCTCTTAACTGAGGCGGGGGGCTGCGTGTATCCTGGGAGATG | ATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGGGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCCCAGGGCTCTTAACTGAGGCGGGGGGCTGCGTGTATCCTGGGAGATG |
Task1_train_24447 | This sequence variant lies in NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | ATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCCCAGGGCTCTTAACTGAGGCGGGGGGCTGCGTGTATCCTGGGAGATG | ATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGGGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCCCAGGGCTCTTAACTGAGGCGGGGGGCTGCGTGTATCCTGGGAGATG |
Task1_train_24448 | Here is a variant affecting NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Mucopolysaccharidosis, MPS-III-B | ATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCCCAGGGCTCTTAACTGAGGCGGGGGGCTGCGTGTATCCTGGGAGATG | ATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGGGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCCCAGGGCTCTTAACTGAGGCGGGGGGCTGCGTGTATCCTGGGAGATG |
Task1_train_24449 | Consider this mutation in NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | GACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCCCAGGGCTCTTAACTGAGGCGGGGGGCTGCGTGTATCCTGGGAGATGAGGGCCTTCTCATAGGACAGCAGTGGCCATGCTCACCACCCTTCCTTCTGTTCCTCCAGCACCGGGTCCTGGACCAGATGCGCTCCTTCGGCATGACCCCAGTGCTGCCTGCATTCGCGGGGCATGTTCCCGAGGCTGTCACCAGGTGAGGTTCCGCTCACCCCCTCCACTTAGCTCAGAGAGGGAATTTTATTCCCTTCTAGAACATGACTTAAAAACTTAAGCTCTGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGTTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAATCCCATCTACTTAGGAGGCTGAGACAGGAGAATTGCTTAAACCTGGGAGGCAGACGTTGCAGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTC | GACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAAAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCCCAGGGCTCTTAACTGAGGCGGGGGGCTGCGTGTATCCTGGGAGATGAGGGCCTTCTCATAGGACAGCAGTGGCCATGCTCACCACCCTTCCTTCTGTTCCTCCAGCACCGGGTCCTGGACCAGATGCGCTCCTTCGGCATGACCCCAGTGCTGCCTGCATTCGCGGGGCATGTTCCCGAGGCTGTCACCAGGTGAGGTTCCGCTCACCCCCTCCACTTAGCTCAGAGAGGGAATTTTATTCCCTTCTAGAACATGACTTAAAAACTTAAGCTCTGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGTTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAATCCCATCTACTTAGGAGGCTGAGACAGGAGAATTGCTTAAACCTGGGAGGCAGACGTTGCAGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTC |
Task1_train_24450 | Located on Chromosome 17, this mutation impacts NAGLU (N-acetyl-alpha-glucosaminidase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | GACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCCCAGGGCTCTTAACTGAGGCGGGGGGCTGCGTGTATCCTGGGAGATGAGGGCCTTCTCATAGGACAGCAGTGGCCATGCTCACCACCCTTCCTTCTGTTCCTCCAGCACCGGGTCCTGGACCAGATGCGCTCCTTCGGCATGACCCCAGTGCTGCCTGCATTCGCGGGGCATGTTCCCGAGGCTGTCACCAGGTGAGGTTCCGCTCACCCCCTCCACTTAGCTCAGAGAGGGAATTTTATTCCCTTCTAGAACATGACTTAAAAACTTAAGCTCTGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGTTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAATCCCATCTACTTAGGAGGCTGAGACAGGAGAATTGCTTAAACCTGGGAGGCAGACGTTGCAGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTC | GACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAAAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCCCAGGGCTCTTAACTGAGGCGGGGGGCTGCGTGTATCCTGGGAGATGAGGGCCTTCTCATAGGACAGCAGTGGCCATGCTCACCACCCTTCCTTCTGTTCCTCCAGCACCGGGTCCTGGACCAGATGCGCTCCTTCGGCATGACCCCAGTGCTGCCTGCATTCGCGGGGCATGTTCCCGAGGCTGTCACCAGGTGAGGTTCCGCTCACCCCCTCCACTTAGCTCAGAGAGGGAATTTTATTCCCTTCTAGAACATGACTTAAAAACTTAAGCTCTGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGTTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAATCCCATCTACTTAGGAGGCTGAGACAGGAGAATTGCTTAAACCTGGGAGGCAGACGTTGCAGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTC |
Task1_train_24451 | Here’s a variant in NAGLU (N-acetyl-alpha-glucosaminidase) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | CCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCCCAGGGCTCTTAACTGAGGCGGGGGGCTGCGTGTATCCTGGGAGATGAGGGCCTTCTCATAGGACAGCAGTGGCCATGCTCACCACCCTTCCTTCTGTTCCTCCAGCACCGGGTCCTGGACCAGATGCGCTCCTTCGGCATGACCCCAGTGCTGCCTGCATTCGCGGGGCATGTTCCCGAGGCTGTCACCAGGTGAGGTTCCGCTCACCCCCTCCACTTAGCTCAGAGAGGGAATTTTATTCCCTTCTAGAACATGACTTAAAAACTTAAGCTCTGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGTTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAATCCCATCTACTTAGGAGGCTGAGACAGGAGAATTGCTTAAACCTGGGAGGCAGACGTTGCAGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTT | CCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCCCAGGGCTCTTAACTGAGGCGGGGGGCTGCGTGTATCCTGGGAGATGAGGGCCTTCTCATAGGACAGCAGTGGCCATGCTCACCACCCTTCCTTCTGTTCCTCCAGCACCGGGTCCTGGACCAGATGTGCTCCTTCGGCATGACCCCAGTGCTGCCTGCATTCGCGGGGCATGTTCCCGAGGCTGTCACCAGGTGAGGTTCCGCTCACCCCCTCCACTTAGCTCAGAGAGGGAATTTTATTCCCTTCTAGAACATGACTTAAAAACTTAAGCTCTGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGTTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAATCCCATCTACTTAGGAGGCTGAGACAGGAGAATTGCTTAAACCTGGGAGGCAGACGTTGCAGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTT |
Task1_train_24452 | This mutation is located in gene NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | CCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCCCAGGGCTCTTAACTGAGGCGGGGGGCTGCGTGTATCCTGGGAGATGAGGGCCTTCTCATAGGACAGCAGTGGCCATGCTCACCACCCTTCCTTCTGTTCCTCCAGCACCGGGTCCTGGACCAGATGCGCTCCTTCGGCATGACCCCAGTGCTGCCTGCATTCGCGGGGCATGTTCCCGAGGCTGTCACCAGGTGAGGTTCCGCTCACCCCCTCCACTTAGCTCAGAGAGGGAATTTTATTCCCTTCTAGAACATGACTTAAAAACTTAAGCTCTGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGTTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAATCCCATCTACTTAGGAGGCTGAGACAGGAGAATTGCTTAAACCTGGGAGGCAGACGTTGCAGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTT | CCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCCCAGGGCTCTTAACTGAGGCGGGGGGCTGCGTGTATCCTGGGAGATGAGGGCCTTCTCATAGGACAGCAGTGGCCATGCTCACCACCCTTCCTTCTGTTCCTCCAGCACCGGGTCCTGGACCAGATGTGCTCCTTCGGCATGACCCCAGTGCTGCCTGCATTCGCGGGGCATGTTCCCGAGGCTGTCACCAGGTGAGGTTCCGCTCACCCCCTCCACTTAGCTCAGAGAGGGAATTTTATTCCCTTCTAGAACATGACTTAAAAACTTAAGCTCTGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGTTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAATCCCATCTACTTAGGAGGCTGAGACAGGAGAATTGCTTAAACCTGGGAGGCAGACGTTGCAGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTT |
Task1_train_24453 | A variant affecting Chromosome 17, within the gene NAGLU (N-acetyl-alpha-glucosaminidase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Mucopolysaccharidosis, MPS-III-B | CCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCCCAGGGCTCTTAACTGAGGCGGGGGGCTGCGTGTATCCTGGGAGATGAGGGCCTTCTCATAGGACAGCAGTGGCCATGCTCACCACCCTTCCTTCTGTTCCTCCAGCACCGGGTCCTGGACCAGATGCGCTCCTTCGGCATGACCCCAGTGCTGCCTGCATTCGCGGGGCATGTTCCCGAGGCTGTCACCAGGTGAGGTTCCGCTCACCCCCTCCACTTAGCTCAGAGAGGGAATTTTATTCCCTTCTAGAACATGACTTAAAAACTTAAGCTCTGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGTTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAATCCCATCTACTTAGGAGGCTGAGACAGGAGAATTGCTTAAACCTGGGAGGCAGACGTTGCAGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTT | CCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCCCAGGGCTCTTAACTGAGGCGGGGGGCTGCGTGTATCCTGGGAGATGAGGGCCTTCTCATAGGACAGCAGTGGCCATGCTCACCACCCTTCCTTCTGTTCCTCCAGCACCGGGTCCTGGACCAGATGTGCTCCTTCGGCATGACCCCAGTGCTGCCTGCATTCGCGGGGCATGTTCCCGAGGCTGTCACCAGGTGAGGTTCCGCTCACCCCCTCCACTTAGCTCAGAGAGGGAATTTTATTCCCTTCTAGAACATGACTTAAAAACTTAAGCTCTGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGTTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAATCCCATCTACTTAGGAGGCTGAGACAGGAGAATTGCTTAAACCTGGGAGGCAGACGTTGCAGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTT |
Task1_train_24454 | With a mutation on Chromosome 17 in gene NAGLU (N-acetyl-alpha-glucosaminidase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Mucopolysaccharidosis, MPS-III-B | AGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTTCAGGCCACAGGAAGGGGAGAGATAGTGAAAGTTTTTCAGAGAAGGTGGCCAGGGAAGGAGAAGAAAGGACTGTAGGCAGAGAGCATAGCCTGTACAAAGCCATAGAGGCAAGAGAAACCAGGAGCTGTAGAGAAGTTGGCAAGGCTGTTGAACACTATGGTGAACACTATGGCGGCTTCCATGAAATATCTGAGCTTTTGCTCCCCACTAGGGTGTTCCCTCAGGTCAATGTCACGAAGATGGGCAGTTGGGGCCACTTTAACTGTTCCTACTCCTGCTCCTTCCTTCTGGCTCCGGAAGACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTT | AGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTTCAGGCCACAGGAAGGGGAGAGATAGTGAAAGTTTTTCAGAGAAGGTGGCCAGGGAAGGAGAAGAAAGGACTGTAGGCAGAGAGCATAGCCTGTACAAAGCCATAGAGGCAAGAGAAACCAGGAGCTGTAGAGAAGTTGGCAAGGCTGTTGAACACTATGGTGAACACTATGGCGGCTTCCATGAAATATCTGAGCTTTTGCTCCCCACTAGGGTGTTCCCTCAGGTCAATGTCACGAAGATGGGCAGTTGGGGCCACTTTAACTGTTCCTACTCCTGCTCCTTCCTTCTGGCTCCGGAAGACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTGTGGGGCCGACACTTTCAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTT |
Task1_train_24455 | This variant lies on Chromosome 17 and affects the gene NAGLU (N-acetyl-alpha-glucosaminidase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | AGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTTCAGGCCACAGGAAGGGGAGAGATAGTGAAAGTTTTTCAGAGAAGGTGGCCAGGGAAGGAGAAGAAAGGACTGTAGGCAGAGAGCATAGCCTGTACAAAGCCATAGAGGCAAGAGAAACCAGGAGCTGTAGAGAAGTTGGCAAGGCTGTTGAACACTATGGTGAACACTATGGCGGCTTCCATGAAATATCTGAGCTTTTGCTCCCCACTAGGGTGTTCCCTCAGGTCAATGTCACGAAGATGGGCAGTTGGGGCCACTTTAACTGTTCCTACTCCTGCTCCTTCCTTCTGGCTCCGGAAGACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTT | AGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTTCAGGCCACAGGAAGGGGAGAGATAGTGAAAGTTTTTCAGAGAAGGTGGCCAGGGAAGGAGAAGAAAGGACTGTAGGCAGAGAGCATAGCCTGTACAAAGCCATAGAGGCAAGAGAAACCAGGAGCTGTAGAGAAGTTGGCAAGGCTGTTGAACACTATGGTGAACACTATGGCGGCTTCCATGAAATATCTGAGCTTTTGCTCCCCACTAGGGTGTTCCCTCAGGTCAATGTCACGAAGATGGGCAGTTGGGGCCACTTTAACTGTTCCTACTCCTGCTCCTTCCTTCTGGCTCCGGAAGACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTGTGGGGCCGACACTTTCAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTT |
Task1_train_24456 | Chromosome 17 houses a mutation in gene NAGLU (N-acetyl-alpha-glucosaminidase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | AGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTTCAGGCCACAGGAAGGGGAGAGATAGTGAAAGTTTTTCAGAGAAGGTGGCCAGGGAAGGAGAAGAAAGGACTGTAGGCAGAGAGCATAGCCTGTACAAAGCCATAGAGGCAAGAGAAACCAGGAGCTGTAGAGAAGTTGGCAAGGCTGTTGAACACTATGGTGAACACTATGGCGGCTTCCATGAAATATCTGAGCTTTTGCTCCCCACTAGGGTGTTCCCTCAGGTCAATGTCACGAAGATGGGCAGTTGGGGCCACTTTAACTGTTCCTACTCCTGCTCCTTCCTTCTGGCTCCGGAAGACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTT | AGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTTCAGGCCACAGGAAGGGGAGAGATAGTGAAAGTTTTTCAGAGAAGGTGGCCAGGGAAGGAGAAGAAAGGACTGTAGGCAGAGAGCATAGCCTGTACAAAGCCATAGAGGCAAGAGAAACCAGGAGCTGTAGAGAAGTTGGCAAGGCTGTTGAACACTATGGTGAACACTATGGCGGCTTCCATGAAATATCTGAGCTTTTGCTCCCCACTAGGGTGTTCCCTCAGGTCAATGTCACGAAGATGGGCAGTTGGGGCCACTTTAACTGTTCCTACTCCTGCTCCTTCCTTCTGGCTCCGGAAGACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTGTGGGGCCGACACTTTCAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTT |
Task1_train_24457 | A sequence alteration has been identified in NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | GCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTTCAGGCCACAGGAAGGGGAGAGATAGTGAAAGTTTTTCAGAGAAGGTGGCCAGGGAAGGAGAAGAAAGGACTGTAGGCAGAGAGCATAGCCTGTACAAAGCCATAGAGGCAAGAGAAACCAGGAGCTGTAGAGAAGTTGGCAAGGCTGTTGAACACTATGGTGAACACTATGGCGGCTTCCATGAAATATCTGAGCTTTTGCTCCCCACTAGGGTGTTCCCTCAGGTCAATGTCACGAAGATGGGCAGTTGGGGCCACTTTAACTGTTCCTACTCCTGCTCCTTCCTTCTGGCTCCGGAAGACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTG | GCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTTCAGGCCACAGGAAGGGGAGAGATAGTGAAAGTTTTTCAGAGAAGGTGGCCAGGGAAGGAGAAGAAAGGACTGTAGGCAGAGAGCATAGCCTGTACAAAGCCATAGAGGCAAGAGAAACCAGGAGCTGTAGAGAAGTTGGCAAGGCTGTTGAACACTATGGTGAACACTATGGCGGCTTCCATGAAATATCTGAGCTTTTGCTCCCCACTAGGGTGTTCCCTCAGGTCAATGTCACGAAGATGGGCAGTTGGGGCCACTTTAACTGTTCCTACTCCTGCTCCTTCCTTCTGGCTCCGGAAGACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTGAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTG |
Task1_train_24458 | The gene NAGLU (N-acetyl-alpha-glucosaminidase) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | GCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTTCAGGCCACAGGAAGGGGAGAGATAGTGAAAGTTTTTCAGAGAAGGTGGCCAGGGAAGGAGAAGAAAGGACTGTAGGCAGAGAGCATAGCCTGTACAAAGCCATAGAGGCAAGAGAAACCAGGAGCTGTAGAGAAGTTGGCAAGGCTGTTGAACACTATGGTGAACACTATGGCGGCTTCCATGAAATATCTGAGCTTTTGCTCCCCACTAGGGTGTTCCCTCAGGTCAATGTCACGAAGATGGGCAGTTGGGGCCACTTTAACTGTTCCTACTCCTGCTCCTTCCTTCTGGCTCCGGAAGACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTG | GCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTTCAGGCCACAGGAAGGGGAGAGATAGTGAAAGTTTTTCAGAGAAGGTGGCCAGGGAAGGAGAAGAAAGGACTGTAGGCAGAGAGCATAGCCTGTACAAAGCCATAGAGGCAAGAGAAACCAGGAGCTGTAGAGAAGTTGGCAAGGCTGTTGAACACTATGGTGAACACTATGGCGGCTTCCATGAAATATCTGAGCTTTTGCTCCCCACTAGGGTGTTCCCTCAGGTCAATGTCACGAAGATGGGCAGTTGGGGCCACTTTAACTGTTCCTACTCCTGCTCCTTCCTTCTGGCTCCGGAAGACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTGAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTG |
Task1_train_24459 | This variant impacts the gene NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | GCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTTCAGGCCACAGGAAGGGGAGAGATAGTGAAAGTTTTTCAGAGAAGGTGGCCAGGGAAGGAGAAGAAAGGACTGTAGGCAGAGAGCATAGCCTGTACAAAGCCATAGAGGCAAGAGAAACCAGGAGCTGTAGAGAAGTTGGCAAGGCTGTTGAACACTATGGTGAACACTATGGCGGCTTCCATGAAATATCTGAGCTTTTGCTCCCCACTAGGGTGTTCCCTCAGGTCAATGTCACGAAGATGGGCAGTTGGGGCCACTTTAACTGTTCCTACTCCTGCTCCTTCCTTCTGGCTCCGGAAGACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACT | GCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTTCAGGCCACAGGAAGGGGAGAGATAGTGAAAGTTTTTCAGAGAAGGTGGCCAGGGAAGGAGAAGAAAGGACTGTAGGCAGAGAGCATAGCCTGTACAAAGCCATAGAGGCAAGAGAAACCAGGAGCTGTAGAGAAGTTGGCAAGGCTGTTGAACACTATGGTGAACACTATGGCGGCTTCCATGAAATATCTGAGCTTTTGCTCCCCACTAGGGTGTTCCCTCAGGTCAATGTCACGAAGATGGGCAGTTGGGGCCACTTTAACTGTTCCTACTCCTGCTCCTTCCTTCTGGCTCCGGAAGACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCTACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACT |
Task1_train_24460 | A genomic change on Chromosome 17 affects NAGLU (N-acetyl-alpha-glucosaminidase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | GCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTTCAGGCCACAGGAAGGGGAGAGATAGTGAAAGTTTTTCAGAGAAGGTGGCCAGGGAAGGAGAAGAAAGGACTGTAGGCAGAGAGCATAGCCTGTACAAAGCCATAGAGGCAAGAGAAACCAGGAGCTGTAGAGAAGTTGGCAAGGCTGTTGAACACTATGGTGAACACTATGGCGGCTTCCATGAAATATCTGAGCTTTTGCTCCCCACTAGGGTGTTCCCTCAGGTCAATGTCACGAAGATGGGCAGTTGGGGCCACTTTAACTGTTCCTACTCCTGCTCCTTCCTTCTGGCTCCGGAAGACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACT | GCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTTCAGGCCACAGGAAGGGGAGAGATAGTGAAAGTTTTTCAGAGAAGGTGGCCAGGGAAGGAGAAGAAAGGACTGTAGGCAGAGAGCATAGCCTGTACAAAGCCATAGAGGCAAGAGAAACCAGGAGCTGTAGAGAAGTTGGCAAGGCTGTTGAACACTATGGTGAACACTATGGCGGCTTCCATGAAATATCTGAGCTTTTGCTCCCCACTAGGGTGTTCCCTCAGGTCAATGTCACGAAGATGGGCAGTTGGGGCCACTTTAACTGTTCCTACTCCTGCTCCTTCCTTCTGGCTCCGGAAGACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCTACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACT |
Task1_train_24461 | This variant affects gene NAGLU (N-acetyl-alpha-glucosaminidase) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Mucopolysaccharidosis, MPS-III-B | GCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTTCAGGCCACAGGAAGGGGAGAGATAGTGAAAGTTTTTCAGAGAAGGTGGCCAGGGAAGGAGAAGAAAGGACTGTAGGCAGAGAGCATAGCCTGTACAAAGCCATAGAGGCAAGAGAAACCAGGAGCTGTAGAGAAGTTGGCAAGGCTGTTGAACACTATGGTGAACACTATGGCGGCTTCCATGAAATATCTGAGCTTTTGCTCCCCACTAGGGTGTTCCCTCAGGTCAATGTCACGAAGATGGGCAGTTGGGGCCACTTTAACTGTTCCTACTCCTGCTCCTTCCTTCTGGCTCCGGAAGACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACT | GCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTTCAGGCCACAGGAAGGGGAGAGATAGTGAAAGTTTTTCAGAGAAGGTGGCCAGGGAAGGAGAAGAAAGGACTGTAGGCAGAGAGCATAGCCTGTACAAAGCCATAGAGGCAAGAGAAACCAGGAGCTGTAGAGAAGTTGGCAAGGCTGTTGAACACTATGGTGAACACTATGGCGGCTTCCATGAAATATCTGAGCTTTTGCTCCCCACTAGGGTGTTCCCTCAGGTCAATGTCACGAAGATGGGCAGTTGGGGCCACTTTAACTGTTCCTACTCCTGCTCCTTCCTTCTGGCTCCGGAAGACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCTACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACT |
Task1_train_24462 | Here is a genetic alteration in NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | ACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGC | ACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCCGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGC |
Task1_train_24463 | Here is a genetic alteration in NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | ACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGC | ACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCCGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGC |
Task1_train_24464 | This gene mutation involves NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | CCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACG | CCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGACCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACG |
Task1_train_24465 | Gene NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | CCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACG | CCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGACCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACG |
Task1_train_24466 | This variant affects the gene NAGLU (N-acetyl-alpha-glucosaminidase) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not specified | CCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACG | CCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGACCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACG |
Task1_train_24467 | The gene NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | ACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTG | ACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTAGTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTG |
Task1_train_24468 | A sequence alteration has been identified in NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | ACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTG | ACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTAGTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTG |
Task1_train_24469 | This variant lies on Chromosome 17 and affects the gene NAGLU (N-acetyl-alpha-glucosaminidase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | GCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCC | GCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCGGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCC |
Task1_train_24470 | A variant has been detected on Chromosome 17 in NAGLU (N-acetyl-alpha-glucosaminidase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | GCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCC | GCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCGGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCC |
Task1_train_24471 | Here is a variant affecting NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | GCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTT | GCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTTGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTT |
Task1_train_24472 | Here is a genetic alteration in NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | GCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTT | GCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTTGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTT |
Task1_train_24473 | This variant impacts the gene NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | GCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTT | GCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTTGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTT |
Task1_train_24474 | This variant impacts the gene NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Sanfilippo syndrome | CATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTG | CATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCAGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTG |
Task1_train_24475 | Assess the clinical impact of this variant on gene NAGLU (N-acetyl-alpha-glucosaminidase), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | CATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTG | CATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCAGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTG |
Task1_train_24476 | Given this variant in gene NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Mucopolysaccharidosis, MPS-III-B | CATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTG | CATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCAGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTG |
Task1_train_24477 | Mutation context: Chromosome 17, Gene NAGLU (N-acetyl-alpha-glucosaminidase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Mucopolysaccharidosis, MPS-III-B | CATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTG | CATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCAGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTG |
Task1_train_24478 | A sequence alteration has been identified in NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | CTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGT | CTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTGGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGT |
Task1_train_24479 | Located on Chromosome 17, this mutation impacts NAGLU (N-acetyl-alpha-glucosaminidase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | CTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGT | CTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTGGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGT |
Task1_train_24480 | A genetic alteration is present in NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | CTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGT | CTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTGGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGT |
Task1_train_24481 | A change on Chromosome 17 affects gene NAGLU (N-acetyl-alpha-glucosaminidase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Mucopolysaccharidosis, MPS-III-B | AGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGTCTGGAAGGGCCCAGAGCAGGAGCTTCTATCTCCATAGAGTTGGGGTTACATCACCCTCCAGGCACATGGATGAGTTCTTCACCTTCTGTCAGC | AGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCTGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGTCTGGAAGGGCCCAGAGCAGGAGCTTCTATCTCCATAGAGTTGGGGTTACATCACCCTCCAGGCACATGGATGAGTTCTTCACCTTCTGTCAGC |
Task1_train_24482 | This mutation is located in gene NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | AGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGTCTGGAAGGGCCCAGAGCAGGAGCTTCTATCTCCATAGAGTTGGGGTTACATCACCCTCCAGGCACATGGATGAGTTCTTCACCTTCTGTCAGC | AGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCTGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGTCTGGAAGGGCCCAGAGCAGGAGCTTCTATCTCCATAGAGTTGGGGTTACATCACCCTCCAGGCACATGGATGAGTTCTTCACCTTCTGTCAGC |
Task1_train_24483 | Here is a genetic alteration in NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | AGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGTCTGGAAGGGCCCAGAGCAGGAGCTTCTATCTCCATAGAGTTGGGGTTACATCACCCTCCAGGCACATGGATGAGTTCTTCACCTTCTGTCAGC | AGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCTGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGTCTGGAAGGGCCCAGAGCAGGAGCTTCTATCTCCATAGAGTTGGGGTTACATCACCCTCCAGGCACATGGATGAGTTCTTCACCTTCTGTCAGC |
Task1_train_24484 | This is a variant in NAGLU (N-acetyl-alpha-glucosaminidase), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | CATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGTCTGGAAGGGCCCAGAGCAGGAGCTTCTATCTCCATAGAGTTGGGGTTACATCACCCTCCAGGCACATGGATGAGTTCTTCACCTTCTGTCAGCCTCCACACGTTCAGCTCTC | CATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTTGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGTCTGGAAGGGCCCAGAGCAGGAGCTTCTATCTCCATAGAGTTGGGGTTACATCACCCTCCAGGCACATGGATGAGTTCTTCACCTTCTGTCAGCCTCCACACGTTCAGCTCTC |
Task1_train_24485 | A mutation in NAGLU (N-acetyl-alpha-glucosaminidase), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | CATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGTCTGGAAGGGCCCAGAGCAGGAGCTTCTATCTCCATAGAGTTGGGGTTACATCACCCTCCAGGCACATGGATGAGTTCTTCACCTTCTGTCAGCCTCCACACGTTCAGCTCTC | CATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTTGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGTCTGGAAGGGCCCAGAGCAGGAGCTTCTATCTCCATAGAGTTGGGGTTACATCACCCTCCAGGCACATGGATGAGTTCTTCACCTTCTGTCAGCCTCCACACGTTCAGCTCTC |
Task1_train_24486 | This variant affects gene NAGLU (N-acetyl-alpha-glucosaminidase) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | CACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGTCTGGAAGGGCCCAGAGCAGGAGCTTCTATCTCCATAGAGTTGGGGTTACATCACCCTCCAGGCACATGGATGAGTTCTTCACCTTCTGTCAGCCTCCACACGTTCAGCTCTCAGAAGCTTCCCGAACCCTGTCCTTTGG | CACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTGTGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGTCTGGAAGGGCCCAGAGCAGGAGCTTCTATCTCCATAGAGTTGGGGTTACATCACCCTCCAGGCACATGGATGAGTTCTTCACCTTCTGTCAGCCTCCACACGTTCAGCTCTCAGAAGCTTCCCGAACCCTGTCCTTTGG |
Task1_train_24487 | The gene NAGLU (N-acetyl-alpha-glucosaminidase), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | CACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGTCTGGAAGGGCCCAGAGCAGGAGCTTCTATCTCCATAGAGTTGGGGTTACATCACCCTCCAGGCACATGGATGAGTTCTTCACCTTCTGTCAGCCTCCACACGTTCAGCTCTCAGAAGCTTCCCGAACCCTGTCCTTTGG | CACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTGTGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGTCTGGAAGGGCCCAGAGCAGGAGCTTCTATCTCCATAGAGTTGGGGTTACATCACCCTCCAGGCACATGGATGAGTTCTTCACCTTCTGTCAGCCTCCACACGTTCAGCTCTCAGAAGCTTCCCGAACCCTGTCCTTTGG |
Task1_train_24488 | Gene NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGTCTGGAAGGGCCCAGAGCAGGAGCTTCTATCTCCATAGAGTTGGGGTTACATCACCCTCCAGGCACATGGATGAGTTCTTCACCTTCTGTCAGCCTCCACACGTTCAGCTCTCAGAAGCTTCCCGAACCCTGTCCTTTGGGCCTTTTATGGAGAACTCCATTGGCTGTCCATGACTGAAGCATGGACAACTGTGATAATGTGATTGGGCAAA | CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCGGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGTCTGGAAGGGCCCAGAGCAGGAGCTTCTATCTCCATAGAGTTGGGGTTACATCACCCTCCAGGCACATGGATGAGTTCTTCACCTTCTGTCAGCCTCCACACGTTCAGCTCTCAGAAGCTTCCCGAACCCTGTCCTTTGGGCCTTTTATGGAGAACTCCATTGGCTGTCCATGACTGAAGCATGGACAACTGTGATAATGTGATTGGGCAAA |
Task1_train_24489 | This is a variant in NAGLU (N-acetyl-alpha-glucosaminidase), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGTCTGGAAGGGCCCAGAGCAGGAGCTTCTATCTCCATAGAGTTGGGGTTACATCACCCTCCAGGCACATGGATGAGTTCTTCACCTTCTGTCAGCCTCCACACGTTCAGCTCTCAGAAGCTTCCCGAACCCTGTCCTTTGGGCCTTTTATGGAGAACTCCATTGGCTGTCCATGACTGAAGCATGGACAACTGTGATAATGTGATTGGGCAAA | CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCGGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGTCTGGAAGGGCCCAGAGCAGGAGCTTCTATCTCCATAGAGTTGGGGTTACATCACCCTCCAGGCACATGGATGAGTTCTTCACCTTCTGTCAGCCTCCACACGTTCAGCTCTCAGAAGCTTCCCGAACCCTGTCCTTTGGGCCTTTTATGGAGAACTCCATTGGCTGTCCATGACTGAAGCATGGACAACTGTGATAATGTGATTGGGCAAA |
Task1_train_24490 | A sequence alteration has been identified in COASY (Coenzyme A synthase) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Neurodegeneration with brain iron accumulation | AGCTGCAGGTAGCAGTGCCACAGACAGGAGGAGGAAACTCAAGCATGGCATGGGTCTTGGAATTTTCCATCTGCCTCTGATGCCCTCTGGCACTGCTCGTTCTCTGGAGTGGTTTCCTGGTGGCTTATTCTCTGGACACATGCCAGCCCTTGGAGTGACTATTGTGCTTGCCTGTTTCTTCACCTTCATGCTCCCCTCACCATCACCATAGGCCTTACCAGTTGAACCCTTTCTGCCACCCCCTCTGGGGATACTGTACTTAGGGACACTTTTTCCCAAACTGGCCCATACTCTCCTCCCCAATAAAAAGATCTCACTGTTCTTCTGGGCTCCTTCCCCAGGCAAGTTGCTCCCTGAGCTGCTCCAACCTTATACAGAACGTGTGGAACATCTGAGTGAATTCCTGGTGGACATCAAGCCCTCCTTGACTTTTGATGTCATCCCCCTGCTGGACCCCTATGGGCCCGCTGGCTCTGACCCCTCCCTGGAGTTCCTGGTGGTCAGCGAGGAGACCTATCGTGGGGGGATGGCCATCAACCGCTTCCGCCTTGAGAATGTAACCCCTGAGGGAGACTGGCAGAGGGAGTGGATGGGGGACGGGGAAGGCCATTTTGAGGGGGCTGTTGGAAGTACCATGGCCCCAGAGGAGAGAAGTGGGGGCTCAGGGTGGTGGGAAGAAGCAAGGAGGAACTGGTTCTCAGTTTGCCCGCTGAGTCGGAGGAGGAGGAGCCTGGGTAGGAAGGGGAGGATGGGGGGGCAGGTTGGATGTCAGGGTCTTCCTCTCACTCCCTCCTTCCCTCTTTTTACCCTTTCCTCTTTACCCCAGGACCTGGAGGAACTTGCTTTGTACCAGATCCAGCTGCTGAAGGACCTCAGACATACAGAGAATGAAGAGGACAAAGTCAGCTCCTCCAGCTTCCGCCAGCGAATGTTGGGGAACCTGCTTCGGCCTCCATATGTAAGCTCCTCTCCCTCCTTCCCTCCTGCTTGGTGTCCTGGCAATGCTGGAGAGTAGAAGCTGAGGGGCTCAGCCCCAGGCATGAGGCTGAGGGCCCCAGTAACTGTGGGTTCCCTTTCACCTATCCCCAGGAAAGGCCAGAGCTCCCCACATGTCTCTATGTAATTGGGCTGACTGGCATCAGTGGCTCTGGGAAGAGCTCAATAGCTCAGCGACTGAAGGGCCTGGGGGCGTTTGTCATTGACAGTGACCACCTGGGTCATCGGGCCTATGCCCCAGGTGGCCCTGCCTACCAGCCTGTGGTGGAGGCCTTTGGAACAGGTAATAACTGGGGAAGGCTGAAAGTGGCCTGGAGTGAGGAGCTAGCCAGGCCTCTGTGCTCAGTTGTCTGTCTGTGTTGTCCAGATATTCTCCATAAAGATGGCATCATCAACAGGAAGGTCCTAGGCAGCCGGGTGTTTGGGAATAAGGTAAACAATAACTTCCTAAGGGCTCCTAAGCCGCTACTAGACCCAGGGGTCAGGGTCCAGTGGACCTCTCTGGTCTGGCCCAGAATGCCATTTCCATTGATCTGTTCCCAACACCACCTTGCTCGGGCTGGCTGCCTCTTCTAGAGAAGGTAACCTCTGCCCTCTGTTCCCCTCCCCAGAAGCAGCTGAAGATACTCACGGACATTATGTGGCCAATTATCGCAAAGCTGGCCCGAGAGGAGATGGATCGGGCTGTGGCTGAGGGTGAGTGGGAGGGAGGATGGCAACAGCTAAGGGGACAGTTAAGCTGTTTCTTCCCCTGGGAGCTTCCCTGCCCAACGTGGGACTGTCTGTTCACCCTGGGACTGTGTTCTGCCTGGGAGAACGTCGGCACTGCTGGCGGTGACTGGGGTCTCCCCACAGGAAAGCGTGTGTGTGTGATTGATGCCGCTGTGTTGCTTGAAGCCGGCTGGCAGAACCTGGTCCATGAGGTGTGGACTGCTGTCATCCCAGAGACTGAGGTATCTCGCCCCACCCCCCACACCATCCCTACTGCAGATCCTATCCTGTGAGCTGGAATTCTTCCTGACAAATGTCTCGTCTGTGCTCAGGCTGTAAGACGCATTGTGGAGAGGGATGGCCTCAGTGAAGCCGCGGCTCAAAGCCGGCTGCAGAGCCAGATGAGCGGGCAGCAGCTTGTGGAACAGAGCCACGTGGTGCTCAGCACCTTGTGGGAGCCGCATATCACCCAACGCCAGGTTGGTGCCCAGGGCAAGGCCGGGTTGTGGGGAAGGAGTCTCCAGTGGGTACTGCCTGACCCTGCCCTCTCTTCCTCCCAACATCCTGGCCTGTCTGAAGGTGGAGAAAGCCTGGGCCCTCTTGCAGAAGCGCATTCCCAAGACTCATCAGGCCCTCGACTGAAAAGTTCTCAGTGGGGCCAGACTGGCTCCTGGAGCTGACAAGCGACCCCGTGGTGAGGAGAAATGGGGGCCTTGATGCTCACCCTGGTTCAGGCCCAGAGGTCCAAGCTATACTGTGCAGGACATGGCCAGGCCTGGTGGACACAGGAAGCCTACCCAACACGCTGGTATTTGGCCAACACTGAGGATGTGGTTCATGGGGGAGCAGTCCCCTCCCCACTCTTGCCCATGGGTGACTCTTACCCACAGCTGACTAGGGCCAGCGCAAATACTGGAACCTGTAACAGAATTAAAGGTGAATGTTCTGAGATGTTGCTTGTATGGTGTCTGCTTCCTGTTCCAATGCCCCTAAGTATCTTTGGGATCCTTAAGCCACAAGTGCAGGGCCCAGGCCTGAGCTGGAAGCCTGGGCAATGCAGTGGTTAAGAGAATGGCCTTTGAGGCTAGCCAGAGGCGAGCTTTGGCCCTCCCACTGACCAGCTGTGTTCTTCTGAGTAAGGTGTAGACTTTCTAGGTACTGCCGTGTTTTATTGTTTTTGTTTTGTTTTTAATATGAGAGGCCGCATAACCTAGCTAGCAGGTTCTTTGCAAGGGTTCATTCCACATGCATCCTGCCAGACACTGGGCTGGGTGTTGGAAGATCAGCCTTCCGCGCGCCAGGCGGGGCCTCTGCCCTCACAGAGCTTGCAGCCTGGTGGGGTCGGACGATGTGGCTGGGGGCTTCTCTGCCCGGTTCCTGACACACCGGCCAGCAGTGCAGGTCCGGTGAGCGCGGGGAGGCCGCCCTCAGGGTAACGTGGGGAGCCGGCCGGCCGGACAGTGCGCGTGCACACACTATCTGCGGCGGTGTGCTGACAAGCCAATTGAGGGGACTCCATCTTACAAAACGCGCTTCATGTCGCCGCCATTCCACTGCCTAACCCGGGGAGGGCAGGCACGGCGGGGAGCAGTCTCGAAGGAGGCTGGCGCCAGGCCAAGCGCCGGGCCTTGACGGCTGGAACCGTGGAGTAAAGTCTTTGGGCTGCGCATGCGCGATGCTTCGCCCTGCCCCACCTCTCGGTCGCGGATTGGCGGGCGCGGGTCACGTGGGCACGCCACCCGCTTCCTCGCCGCAGGGGGCCCGCCCGCTGGCCCGTTTCCGGTCCGGTGGGTACAAGATGACGGAGCCGGGCGCCTCTCCCGAGGACCCTTGGGTCAAGGCAAGCCCCGTGGGCGCGCACGCCGGCGAGGGGAGGGCGGGTCGGGCTCGTGCACGTAGGGGGGCCGGAAGACGAGGGGCTTCCCTCCTGTCCCCAAAGTCCCCCACGCTCTCCGTGCCCCGGGGCTGCAGAGAAGACAGCTCTCACCCCGCGTGTGCCAAGGTGGGGAGACAAACGAGGCGTGTGCGCGCGAGTCGGGGGAACGGGGCACTGGGGTGGAGTAGGGGCGGAAGGGATCATACACAGGGGAGGCACTCGCACGCCCTAGCCTGTGCCAGTCTCGGGGGACTCATTAAGCTGCCCGCGCACCCCGGGCTGTGTGTGTGCAAGCGCGCAGGGTGACAGAGGCGCCTTCCCGGAATGGGGGGCGCGCTGTGCGTGCCTGCAGTGGAAGGGGCGCCTCCCCCTAGGGGCGGAGGTCTGACGGGCCCTTCCCGTGCTCTGTGCCGCAGGTGGAGTATGCCTACAGCGACAACAGCCTGGACCCCGGTGAGTAGCTGCCCCATCTTAAGCTCTAGAGGGACACTCCCGCCCAGGCTCTCTAGATTC | AGCTGCAGGTAGCAGTGCCACAGACAGGAGGAGGAAACTCAAGCATGGCATGGGTCTTGGAATTTTCCATCTGCCTCTGATGCCCTCTGGCACTGCTCGTTCTCTGGAGTGGTTTCCTGGTGGCTTATTCTCTGGACACATGCCAGCCCTTGGAGTGACTATTGTGCTTGCCTGTTTCTTCACCTTCATGCTCCCCTCACCATCACCATAGGCCTTACCAGTTGAACCCTTTCTGCCACCCCCTCTGGGGATACTGTACTTAGGGACACTTTTTCCCAAACTGGCCCATACTCTCCTCCCCAATAAAAAGATCTCACTGTTCTTCTGGGCTCCTTCCCCAGGCAAGTTGCTCCCTGAGCTGCTCCAACCTTATACAGAACGTGTGGAACATCTGAGTGAATTCCTGGTGGACATCAAGCCCTCCTTGACTTTTGATGTCATCCCCCTGCTGGACCCCTATGGGCCCGCTGGCTCTGACCCCTCCCTGGAGTTCCTGGTGGTCAGCGAGGAGACCTATCGTGGGGGGATGGCCATCAACCGCTTCCGCCTTGAGAATGTAACCCCTGAGGGAGACTGGCAGAGGGAGTGGATGGGGGACGGGGAAGGCCATTTTGAGGGGGCTGTTGGAAGTACCATGGCCCCAGAGGAGAGAAGTGGGGGCTCAGGGTGGTGGGAAGAAGCAAGGAGGAACTGGTTCTCAGTTTGCCCGCTGAGTCGGAGGAGGAGGAGCCTGGGTAGGAAGGGGAGGATGGGGGGGCAGGTTGGATGTCAGGGTCTTCCTCTCACTCCCTCCTTCCCTCTTTTTACCCTTTCCTCTTTACCCCAGGACCTGGAGGAACTTGCTTTGTACCAGATCCAGCTGCTGAAGGACCTCAGACATACAGAGAATGAAGAGGACAAAGTCAGCTCCTCCAGCTTCCGCCAGCGAATGTTGGGGAACCTGCTTCGGCCTCCATATGTAAGCTCCTCTCCCTCCTTCCCTCCTGCTTGGTGTCCTGGCAATGCTGGAGAGTAGAAGCTGAGGGGCTCAGCCCCAGGCATGAGGCTGAGGGCCCCAGTAACTGTGGGTTCCCTTTCACCTATCCCCAGGAAAGGCCAGAGCTCCCCACATGTCTCTATGTAATTGGGCTGACTGGCATCAGTGGCTCTGGGAAGAGCTCAATAGCTCAGCGACTGAAGGGCCTGGGGGCGTTTGTCATTGACAGTGACCACCTGGGTCATCGGGCCTATGCCCCAGGTGGCCCTGCCTACCAGCCTGTGGTGGAGGCCTTTGGAACAGGTAATAACTGGGGAAGGCTGAAAGTGGCCTGGAGTGAGGAGCTAGCCAGGCCTCTGTGCTCAGTTGTCTGTCTGTGTTGTCCAGATATTCTCCATAAAGATGGCATCATCAACAGGAAGGTCCTAGGCAGCCGGGTGTTTGGGAATAAGGTAAACAATAACTTCCTAAGGGCTCCTAAGCCGCTACTAGACCCAGGGGTCAGGGTCCAGTGGACCTCTCTGGTCTGGCCCAGAATGCCATTTCCATTGATCTGTTCCCAACACCACCTTGCTCGGGCTGGCTGCCTCTTCTAGAGAAGGTAACCTCTGCCCTCTGTTCCCCTCCCCAGAAGCAGCTGAAGATACTCACGGACATTATGTGGCCAATTATCGCAAAGCTGGCCCGAGAGGAGATGGATCGGGCTGTGGCTGAGGGTGAGTGGGAGGGAGGATGGCAACAGCTAAGGGGACAGTTAAGCTGTTTCTTCCCCTGGGAGCTTCCCTGCCCAACGTGGGACTGTCTGTTCACCCTGGGACTGTGTTCTGCCTGGGAGAACGTCGGCACTGCTGGCGGTGACTGGGGTCTCCCCACAGGAAAGCGTGTGTGTGTGATTGATGCCGCTGTGTTGCTTGAAGCCGGCTGGCAGAACCTGGTCCATGAGGTGTGGACTGCTGTCATCCCAGAGACTGAGGTATCTCGCCCCACCCCCCACACCATCCCTACTGCAGATCCTATCCTGTGAGCTGGAATTCTTCCTGACAAATGTCTCGTCTGTGCTCAGGCTGTAAGATGCATTGTGGAGAGGGATGGCCTCAGTGAAGCCGCGGCTCAAAGCCGGCTGCAGAGCCAGATGAGCGGGCAGCAGCTTGTGGAACAGAGCCACGTGGTGCTCAGCACCTTGTGGGAGCCGCATATCACCCAACGCCAGGTTGGTGCCCAGGGCAAGGCCGGGTTGTGGGGAAGGAGTCTCCAGTGGGTACTGCCTGACCCTGCCCTCTCTTCCTCCCAACATCCTGGCCTGTCTGAAGGTGGAGAAAGCCTGGGCCCTCTTGCAGAAGCGCATTCCCAAGACTCATCAGGCCCTCGACTGAAAAGTTCTCAGTGGGGCCAGACTGGCTCCTGGAGCTGACAAGCGACCCCGTGGTGAGGAGAAATGGGGGCCTTGATGCTCACCCTGGTTCAGGCCCAGAGGTCCAAGCTATACTGTGCAGGACATGGCCAGGCCTGGTGGACACAGGAAGCCTACCCAACACGCTGGTATTTGGCCAACACTGAGGATGTGGTTCATGGGGGAGCAGTCCCCTCCCCACTCTTGCCCATGGGTGACTCTTACCCACAGCTGACTAGGGCCAGCGCAAATACTGGAACCTGTAACAGAATTAAAGGTGAATGTTCTGAGATGTTGCTTGTATGGTGTCTGCTTCCTGTTCCAATGCCCCTAAGTATCTTTGGGATCCTTAAGCCACAAGTGCAGGGCCCAGGCCTGAGCTGGAAGCCTGGGCAATGCAGTGGTTAAGAGAATGGCCTTTGAGGCTAGCCAGAGGCGAGCTTTGGCCCTCCCACTGACCAGCTGTGTTCTTCTGAGTAAGGTGTAGACTTTCTAGGTACTGCCGTGTTTTATTGTTTTTGTTTTGTTTTTAATATGAGAGGCCGCATAACCTAGCTAGCAGGTTCTTTGCAAGGGTTCATTCCACATGCATCCTGCCAGACACTGGGCTGGGTGTTGGAAGATCAGCCTTCCGCGCGCCAGGCGGGGCCTCTGCCCTCACAGAGCTTGCAGCCTGGTGGGGTCGGACGATGTGGCTGGGGGCTTCTCTGCCCGGTTCCTGACACACCGGCCAGCAGTGCAGGTCCGGTGAGCGCGGGGAGGCCGCCCTCAGGGTAACGTGGGGAGCCGGCCGGCCGGACAGTGCGCGTGCACACACTATCTGCGGCGGTGTGCTGACAAGCCAATTGAGGGGACTCCATCTTACAAAACGCGCTTCATGTCGCCGCCATTCCACTGCCTAACCCGGGGAGGGCAGGCACGGCGGGGAGCAGTCTCGAAGGAGGCTGGCGCCAGGCCAAGCGCCGGGCCTTGACGGCTGGAACCGTGGAGTAAAGTCTTTGGGCTGCGCATGCGCGATGCTTCGCCCTGCCCCACCTCTCGGTCGCGGATTGGCGGGCGCGGGTCACGTGGGCACGCCACCCGCTTCCTCGCCGCAGGGGGCCCGCCCGCTGGCCCGTTTCCGGTCCGGTGGGTACAAGATGACGGAGCCGGGCGCCTCTCCCGAGGACCCTTGGGTCAAGGCAAGCCCCGTGGGCGCGCACGCCGGCGAGGGGAGGGCGGGTCGGGCTCGTGCACGTAGGGGGGCCGGAAGACGAGGGGCTTCCCTCCTGTCCCCAAAGTCCCCCACGCTCTCCGTGCCCCGGGGCTGCAGAGAAGACAGCTCTCACCCCGCGTGTGCCAAGGTGGGGAGACAAACGAGGCGTGTGCGCGCGAGTCGGGGGAACGGGGCACTGGGGTGGAGTAGGGGCGGAAGGGATCATACACAGGGGAGGCACTCGCACGCCCTAGCCTGTGCCAGTCTCGGGGGACTCATTAAGCTGCCCGCGCACCCCGGGCTGTGTGTGTGCAAGCGCGCAGGGTGACAGAGGCGCCTTCCCGGAATGGGGGGCGCGCTGTGCGTGCCTGCAGTGGAAGGGGCGCCTCCCCCTAGGGGCGGAGGTCTGACGGGCCCTTCCCGTGCTCTGTGCCGCAGGTGGAGTATGCCTACAGCGACAACAGCCTGGACCCCGGTGAGTAGCTGCCCCATCTTAAGCTCTAGAGGGACACTCCCGCCCAGGCTCTCTAGATTC |
Task1_train_24491 | This variant affects the gene COASY (Coenzyme A synthase) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Neurodegeneration with brain iron accumulation 6 | AGCTGCAGGTAGCAGTGCCACAGACAGGAGGAGGAAACTCAAGCATGGCATGGGTCTTGGAATTTTCCATCTGCCTCTGATGCCCTCTGGCACTGCTCGTTCTCTGGAGTGGTTTCCTGGTGGCTTATTCTCTGGACACATGCCAGCCCTTGGAGTGACTATTGTGCTTGCCTGTTTCTTCACCTTCATGCTCCCCTCACCATCACCATAGGCCTTACCAGTTGAACCCTTTCTGCCACCCCCTCTGGGGATACTGTACTTAGGGACACTTTTTCCCAAACTGGCCCATACTCTCCTCCCCAATAAAAAGATCTCACTGTTCTTCTGGGCTCCTTCCCCAGGCAAGTTGCTCCCTGAGCTGCTCCAACCTTATACAGAACGTGTGGAACATCTGAGTGAATTCCTGGTGGACATCAAGCCCTCCTTGACTTTTGATGTCATCCCCCTGCTGGACCCCTATGGGCCCGCTGGCTCTGACCCCTCCCTGGAGTTCCTGGTGGTCAGCGAGGAGACCTATCGTGGGGGGATGGCCATCAACCGCTTCCGCCTTGAGAATGTAACCCCTGAGGGAGACTGGCAGAGGGAGTGGATGGGGGACGGGGAAGGCCATTTTGAGGGGGCTGTTGGAAGTACCATGGCCCCAGAGGAGAGAAGTGGGGGCTCAGGGTGGTGGGAAGAAGCAAGGAGGAACTGGTTCTCAGTTTGCCCGCTGAGTCGGAGGAGGAGGAGCCTGGGTAGGAAGGGGAGGATGGGGGGGCAGGTTGGATGTCAGGGTCTTCCTCTCACTCCCTCCTTCCCTCTTTTTACCCTTTCCTCTTTACCCCAGGACCTGGAGGAACTTGCTTTGTACCAGATCCAGCTGCTGAAGGACCTCAGACATACAGAGAATGAAGAGGACAAAGTCAGCTCCTCCAGCTTCCGCCAGCGAATGTTGGGGAACCTGCTTCGGCCTCCATATGTAAGCTCCTCTCCCTCCTTCCCTCCTGCTTGGTGTCCTGGCAATGCTGGAGAGTAGAAGCTGAGGGGCTCAGCCCCAGGCATGAGGCTGAGGGCCCCAGTAACTGTGGGTTCCCTTTCACCTATCCCCAGGAAAGGCCAGAGCTCCCCACATGTCTCTATGTAATTGGGCTGACTGGCATCAGTGGCTCTGGGAAGAGCTCAATAGCTCAGCGACTGAAGGGCCTGGGGGCGTTTGTCATTGACAGTGACCACCTGGGTCATCGGGCCTATGCCCCAGGTGGCCCTGCCTACCAGCCTGTGGTGGAGGCCTTTGGAACAGGTAATAACTGGGGAAGGCTGAAAGTGGCCTGGAGTGAGGAGCTAGCCAGGCCTCTGTGCTCAGTTGTCTGTCTGTGTTGTCCAGATATTCTCCATAAAGATGGCATCATCAACAGGAAGGTCCTAGGCAGCCGGGTGTTTGGGAATAAGGTAAACAATAACTTCCTAAGGGCTCCTAAGCCGCTACTAGACCCAGGGGTCAGGGTCCAGTGGACCTCTCTGGTCTGGCCCAGAATGCCATTTCCATTGATCTGTTCCCAACACCACCTTGCTCGGGCTGGCTGCCTCTTCTAGAGAAGGTAACCTCTGCCCTCTGTTCCCCTCCCCAGAAGCAGCTGAAGATACTCACGGACATTATGTGGCCAATTATCGCAAAGCTGGCCCGAGAGGAGATGGATCGGGCTGTGGCTGAGGGTGAGTGGGAGGGAGGATGGCAACAGCTAAGGGGACAGTTAAGCTGTTTCTTCCCCTGGGAGCTTCCCTGCCCAACGTGGGACTGTCTGTTCACCCTGGGACTGTGTTCTGCCTGGGAGAACGTCGGCACTGCTGGCGGTGACTGGGGTCTCCCCACAGGAAAGCGTGTGTGTGTGATTGATGCCGCTGTGTTGCTTGAAGCCGGCTGGCAGAACCTGGTCCATGAGGTGTGGACTGCTGTCATCCCAGAGACTGAGGTATCTCGCCCCACCCCCCACACCATCCCTACTGCAGATCCTATCCTGTGAGCTGGAATTCTTCCTGACAAATGTCTCGTCTGTGCTCAGGCTGTAAGACGCATTGTGGAGAGGGATGGCCTCAGTGAAGCCGCGGCTCAAAGCCGGCTGCAGAGCCAGATGAGCGGGCAGCAGCTTGTGGAACAGAGCCACGTGGTGCTCAGCACCTTGTGGGAGCCGCATATCACCCAACGCCAGGTTGGTGCCCAGGGCAAGGCCGGGTTGTGGGGAAGGAGTCTCCAGTGGGTACTGCCTGACCCTGCCCTCTCTTCCTCCCAACATCCTGGCCTGTCTGAAGGTGGAGAAAGCCTGGGCCCTCTTGCAGAAGCGCATTCCCAAGACTCATCAGGCCCTCGACTGAAAAGTTCTCAGTGGGGCCAGACTGGCTCCTGGAGCTGACAAGCGACCCCGTGGTGAGGAGAAATGGGGGCCTTGATGCTCACCCTGGTTCAGGCCCAGAGGTCCAAGCTATACTGTGCAGGACATGGCCAGGCCTGGTGGACACAGGAAGCCTACCCAACACGCTGGTATTTGGCCAACACTGAGGATGTGGTTCATGGGGGAGCAGTCCCCTCCCCACTCTTGCCCATGGGTGACTCTTACCCACAGCTGACTAGGGCCAGCGCAAATACTGGAACCTGTAACAGAATTAAAGGTGAATGTTCTGAGATGTTGCTTGTATGGTGTCTGCTTCCTGTTCCAATGCCCCTAAGTATCTTTGGGATCCTTAAGCCACAAGTGCAGGGCCCAGGCCTGAGCTGGAAGCCTGGGCAATGCAGTGGTTAAGAGAATGGCCTTTGAGGCTAGCCAGAGGCGAGCTTTGGCCCTCCCACTGACCAGCTGTGTTCTTCTGAGTAAGGTGTAGACTTTCTAGGTACTGCCGTGTTTTATTGTTTTTGTTTTGTTTTTAATATGAGAGGCCGCATAACCTAGCTAGCAGGTTCTTTGCAAGGGTTCATTCCACATGCATCCTGCCAGACACTGGGCTGGGTGTTGGAAGATCAGCCTTCCGCGCGCCAGGCGGGGCCTCTGCCCTCACAGAGCTTGCAGCCTGGTGGGGTCGGACGATGTGGCTGGGGGCTTCTCTGCCCGGTTCCTGACACACCGGCCAGCAGTGCAGGTCCGGTGAGCGCGGGGAGGCCGCCCTCAGGGTAACGTGGGGAGCCGGCCGGCCGGACAGTGCGCGTGCACACACTATCTGCGGCGGTGTGCTGACAAGCCAATTGAGGGGACTCCATCTTACAAAACGCGCTTCATGTCGCCGCCATTCCACTGCCTAACCCGGGGAGGGCAGGCACGGCGGGGAGCAGTCTCGAAGGAGGCTGGCGCCAGGCCAAGCGCCGGGCCTTGACGGCTGGAACCGTGGAGTAAAGTCTTTGGGCTGCGCATGCGCGATGCTTCGCCCTGCCCCACCTCTCGGTCGCGGATTGGCGGGCGCGGGTCACGTGGGCACGCCACCCGCTTCCTCGCCGCAGGGGGCCCGCCCGCTGGCCCGTTTCCGGTCCGGTGGGTACAAGATGACGGAGCCGGGCGCCTCTCCCGAGGACCCTTGGGTCAAGGCAAGCCCCGTGGGCGCGCACGCCGGCGAGGGGAGGGCGGGTCGGGCTCGTGCACGTAGGGGGGCCGGAAGACGAGGGGCTTCCCTCCTGTCCCCAAAGTCCCCCACGCTCTCCGTGCCCCGGGGCTGCAGAGAAGACAGCTCTCACCCCGCGTGTGCCAAGGTGGGGAGACAAACGAGGCGTGTGCGCGCGAGTCGGGGGAACGGGGCACTGGGGTGGAGTAGGGGCGGAAGGGATCATACACAGGGGAGGCACTCGCACGCCCTAGCCTGTGCCAGTCTCGGGGGACTCATTAAGCTGCCCGCGCACCCCGGGCTGTGTGTGTGCAAGCGCGCAGGGTGACAGAGGCGCCTTCCCGGAATGGGGGGCGCGCTGTGCGTGCCTGCAGTGGAAGGGGCGCCTCCCCCTAGGGGCGGAGGTCTGACGGGCCCTTCCCGTGCTCTGTGCCGCAGGTGGAGTATGCCTACAGCGACAACAGCCTGGACCCCGGTGAGTAGCTGCCCCATCTTAAGCTCTAGAGGGACACTCCCGCCCAGGCTCTCTAGATTC | AGCTGCAGGTAGCAGTGCCACAGACAGGAGGAGGAAACTCAAGCATGGCATGGGTCTTGGAATTTTCCATCTGCCTCTGATGCCCTCTGGCACTGCTCGTTCTCTGGAGTGGTTTCCTGGTGGCTTATTCTCTGGACACATGCCAGCCCTTGGAGTGACTATTGTGCTTGCCTGTTTCTTCACCTTCATGCTCCCCTCACCATCACCATAGGCCTTACCAGTTGAACCCTTTCTGCCACCCCCTCTGGGGATACTGTACTTAGGGACACTTTTTCCCAAACTGGCCCATACTCTCCTCCCCAATAAAAAGATCTCACTGTTCTTCTGGGCTCCTTCCCCAGGCAAGTTGCTCCCTGAGCTGCTCCAACCTTATACAGAACGTGTGGAACATCTGAGTGAATTCCTGGTGGACATCAAGCCCTCCTTGACTTTTGATGTCATCCCCCTGCTGGACCCCTATGGGCCCGCTGGCTCTGACCCCTCCCTGGAGTTCCTGGTGGTCAGCGAGGAGACCTATCGTGGGGGGATGGCCATCAACCGCTTCCGCCTTGAGAATGTAACCCCTGAGGGAGACTGGCAGAGGGAGTGGATGGGGGACGGGGAAGGCCATTTTGAGGGGGCTGTTGGAAGTACCATGGCCCCAGAGGAGAGAAGTGGGGGCTCAGGGTGGTGGGAAGAAGCAAGGAGGAACTGGTTCTCAGTTTGCCCGCTGAGTCGGAGGAGGAGGAGCCTGGGTAGGAAGGGGAGGATGGGGGGGCAGGTTGGATGTCAGGGTCTTCCTCTCACTCCCTCCTTCCCTCTTTTTACCCTTTCCTCTTTACCCCAGGACCTGGAGGAACTTGCTTTGTACCAGATCCAGCTGCTGAAGGACCTCAGACATACAGAGAATGAAGAGGACAAAGTCAGCTCCTCCAGCTTCCGCCAGCGAATGTTGGGGAACCTGCTTCGGCCTCCATATGTAAGCTCCTCTCCCTCCTTCCCTCCTGCTTGGTGTCCTGGCAATGCTGGAGAGTAGAAGCTGAGGGGCTCAGCCCCAGGCATGAGGCTGAGGGCCCCAGTAACTGTGGGTTCCCTTTCACCTATCCCCAGGAAAGGCCAGAGCTCCCCACATGTCTCTATGTAATTGGGCTGACTGGCATCAGTGGCTCTGGGAAGAGCTCAATAGCTCAGCGACTGAAGGGCCTGGGGGCGTTTGTCATTGACAGTGACCACCTGGGTCATCGGGCCTATGCCCCAGGTGGCCCTGCCTACCAGCCTGTGGTGGAGGCCTTTGGAACAGGTAATAACTGGGGAAGGCTGAAAGTGGCCTGGAGTGAGGAGCTAGCCAGGCCTCTGTGCTCAGTTGTCTGTCTGTGTTGTCCAGATATTCTCCATAAAGATGGCATCATCAACAGGAAGGTCCTAGGCAGCCGGGTGTTTGGGAATAAGGTAAACAATAACTTCCTAAGGGCTCCTAAGCCGCTACTAGACCCAGGGGTCAGGGTCCAGTGGACCTCTCTGGTCTGGCCCAGAATGCCATTTCCATTGATCTGTTCCCAACACCACCTTGCTCGGGCTGGCTGCCTCTTCTAGAGAAGGTAACCTCTGCCCTCTGTTCCCCTCCCCAGAAGCAGCTGAAGATACTCACGGACATTATGTGGCCAATTATCGCAAAGCTGGCCCGAGAGGAGATGGATCGGGCTGTGGCTGAGGGTGAGTGGGAGGGAGGATGGCAACAGCTAAGGGGACAGTTAAGCTGTTTCTTCCCCTGGGAGCTTCCCTGCCCAACGTGGGACTGTCTGTTCACCCTGGGACTGTGTTCTGCCTGGGAGAACGTCGGCACTGCTGGCGGTGACTGGGGTCTCCCCACAGGAAAGCGTGTGTGTGTGATTGATGCCGCTGTGTTGCTTGAAGCCGGCTGGCAGAACCTGGTCCATGAGGTGTGGACTGCTGTCATCCCAGAGACTGAGGTATCTCGCCCCACCCCCCACACCATCCCTACTGCAGATCCTATCCTGTGAGCTGGAATTCTTCCTGACAAATGTCTCGTCTGTGCTCAGGCTGTAAGATGCATTGTGGAGAGGGATGGCCTCAGTGAAGCCGCGGCTCAAAGCCGGCTGCAGAGCCAGATGAGCGGGCAGCAGCTTGTGGAACAGAGCCACGTGGTGCTCAGCACCTTGTGGGAGCCGCATATCACCCAACGCCAGGTTGGTGCCCAGGGCAAGGCCGGGTTGTGGGGAAGGAGTCTCCAGTGGGTACTGCCTGACCCTGCCCTCTCTTCCTCCCAACATCCTGGCCTGTCTGAAGGTGGAGAAAGCCTGGGCCCTCTTGCAGAAGCGCATTCCCAAGACTCATCAGGCCCTCGACTGAAAAGTTCTCAGTGGGGCCAGACTGGCTCCTGGAGCTGACAAGCGACCCCGTGGTGAGGAGAAATGGGGGCCTTGATGCTCACCCTGGTTCAGGCCCAGAGGTCCAAGCTATACTGTGCAGGACATGGCCAGGCCTGGTGGACACAGGAAGCCTACCCAACACGCTGGTATTTGGCCAACACTGAGGATGTGGTTCATGGGGGAGCAGTCCCCTCCCCACTCTTGCCCATGGGTGACTCTTACCCACAGCTGACTAGGGCCAGCGCAAATACTGGAACCTGTAACAGAATTAAAGGTGAATGTTCTGAGATGTTGCTTGTATGGTGTCTGCTTCCTGTTCCAATGCCCCTAAGTATCTTTGGGATCCTTAAGCCACAAGTGCAGGGCCCAGGCCTGAGCTGGAAGCCTGGGCAATGCAGTGGTTAAGAGAATGGCCTTTGAGGCTAGCCAGAGGCGAGCTTTGGCCCTCCCACTGACCAGCTGTGTTCTTCTGAGTAAGGTGTAGACTTTCTAGGTACTGCCGTGTTTTATTGTTTTTGTTTTGTTTTTAATATGAGAGGCCGCATAACCTAGCTAGCAGGTTCTTTGCAAGGGTTCATTCCACATGCATCCTGCCAGACACTGGGCTGGGTGTTGGAAGATCAGCCTTCCGCGCGCCAGGCGGGGCCTCTGCCCTCACAGAGCTTGCAGCCTGGTGGGGTCGGACGATGTGGCTGGGGGCTTCTCTGCCCGGTTCCTGACACACCGGCCAGCAGTGCAGGTCCGGTGAGCGCGGGGAGGCCGCCCTCAGGGTAACGTGGGGAGCCGGCCGGCCGGACAGTGCGCGTGCACACACTATCTGCGGCGGTGTGCTGACAAGCCAATTGAGGGGACTCCATCTTACAAAACGCGCTTCATGTCGCCGCCATTCCACTGCCTAACCCGGGGAGGGCAGGCACGGCGGGGAGCAGTCTCGAAGGAGGCTGGCGCCAGGCCAAGCGCCGGGCCTTGACGGCTGGAACCGTGGAGTAAAGTCTTTGGGCTGCGCATGCGCGATGCTTCGCCCTGCCCCACCTCTCGGTCGCGGATTGGCGGGCGCGGGTCACGTGGGCACGCCACCCGCTTCCTCGCCGCAGGGGGCCCGCCCGCTGGCCCGTTTCCGGTCCGGTGGGTACAAGATGACGGAGCCGGGCGCCTCTCCCGAGGACCCTTGGGTCAAGGCAAGCCCCGTGGGCGCGCACGCCGGCGAGGGGAGGGCGGGTCGGGCTCGTGCACGTAGGGGGGCCGGAAGACGAGGGGCTTCCCTCCTGTCCCCAAAGTCCCCCACGCTCTCCGTGCCCCGGGGCTGCAGAGAAGACAGCTCTCACCCCGCGTGTGCCAAGGTGGGGAGACAAACGAGGCGTGTGCGCGCGAGTCGGGGGAACGGGGCACTGGGGTGGAGTAGGGGCGGAAGGGATCATACACAGGGGAGGCACTCGCACGCCCTAGCCTGTGCCAGTCTCGGGGGACTCATTAAGCTGCCCGCGCACCCCGGGCTGTGTGTGTGCAAGCGCGCAGGGTGACAGAGGCGCCTTCCCGGAATGGGGGGCGCGCTGTGCGTGCCTGCAGTGGAAGGGGCGCCTCCCCCTAGGGGCGGAGGTCTGACGGGCCCTTCCCGTGCTCTGTGCCGCAGGTGGAGTATGCCTACAGCGACAACAGCCTGGACCCCGGTGAGTAGCTGCCCCATCTTAAGCTCTAGAGGGACACTCCCGCCCAGGCTCTCTAGATTC |
Task1_train_24492 | A variant affecting Chromosome 17, within the gene COASY (Coenzyme A synthase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Neurodegeneration with brain iron accumulation 6 | TTTTTCCCAAACTGGCCCATACTCTCCTCCCCAATAAAAAGATCTCACTGTTCTTCTGGGCTCCTTCCCCAGGCAAGTTGCTCCCTGAGCTGCTCCAACCTTATACAGAACGTGTGGAACATCTGAGTGAATTCCTGGTGGACATCAAGCCCTCCTTGACTTTTGATGTCATCCCCCTGCTGGACCCCTATGGGCCCGCTGGCTCTGACCCCTCCCTGGAGTTCCTGGTGGTCAGCGAGGAGACCTATCGTGGGGGGATGGCCATCAACCGCTTCCGCCTTGAGAATGTAACCCCTGAGGGAGACTGGCAGAGGGAGTGGATGGGGGACGGGGAAGGCCATTTTGAGGGGGCTGTTGGAAGTACCATGGCCCCAGAGGAGAGAAGTGGGGGCTCAGGGTGGTGGGAAGAAGCAAGGAGGAACTGGTTCTCAGTTTGCCCGCTGAGTCGGAGGAGGAGGAGCCTGGGTAGGAAGGGGAGGATGGGGGGGCAGGTTGGATGTCAGGGTCTTCCTCTCACTCCCTCCTTCCCTCTTTTTACCCTTTCCTCTTTACCCCAGGACCTGGAGGAACTTGCTTTGTACCAGATCCAGCTGCTGAAGGACCTCAGACATACAGAGAATGAAGAGGACAAAGTCAGCTCCTCCAGCTTCCGCCAGCGAATGTTGGGGAACCTGCTTCGGCCTCCATATGTAAGCTCCTCTCCCTCCTTCCCTCCTGCTTGGTGTCCTGGCAATGCTGGAGAGTAGAAGCTGAGGGGCTCAGCCCCAGGCATGAGGCTGAGGGCCCCAGTAACTGTGGGTTCCCTTTCACCTATCCCCAGGAAAGGCCAGAGCTCCCCACATGTCTCTATGTAATTGGGCTGACTGGCATCAGTGGCTCTGGGAAGAGCTCAATAGCTCAGCGACTGAAGGGCCTGGGGGCGTTTGTCATTGACAGTGACCACCTGGGTCATCGGGCCTATGCCCCAGGTGGCCCTGCCTACCAGCCTGTGGTGGAGGCCTTTGGAACAGGTAATAACTGGGGAAGGCTGAAAGTGGCCTGGAGTGAGGAGCTAGCCAGGCCTCTGTGCTCAGTTGTCTGTCTGTGTTGTCCAGATATTCTCCATAAAGATGGCATCATCAACAGGAAGGTCCTAGGCAGCCGGGTGTTTGGGAATAAGGTAAACAATAACTTCCTAAGGGCTCCTAAGCCGCTACTAGACCCAGGGGTCAGGGTCCAGTGGACCTCTCTGGTCTGGCCCAGAATGCCATTTCCATTGATCTGTTCCCAACACCACCTTGCTCGGGCTGGCTGCCTCTTCTAGAGAAGGTAACCTCTGCCCTCTGTTCCCCTCCCCAGAAGCAGCTGAAGATACTCACGGACATTATGTGGCCAATTATCGCAAAGCTGGCCCGAGAGGAGATGGATCGGGCTGTGGCTGAGGGTGAGTGGGAGGGAGGATGGCAACAGCTAAGGGGACAGTTAAGCTGTTTCTTCCCCTGGGAGCTTCCCTGCCCAACGTGGGACTGTCTGTTCACCCTGGGACTGTGTTCTGCCTGGGAGAACGTCGGCACTGCTGGCGGTGACTGGGGTCTCCCCACAGGAAAGCGTGTGTGTGTGATTGATGCCGCTGTGTTGCTTGAAGCCGGCTGGCAGAACCTGGTCCATGAGGTGTGGACTGCTGTCATCCCAGAGACTGAGGTATCTCGCCCCACCCCCCACACCATCCCTACTGCAGATCCTATCCTGTGAGCTGGAATTCTTCCTGACAAATGTCTCGTCTGTGCTCAGGCTGTAAGACGCATTGTGGAGAGGGATGGCCTCAGTGAAGCCGCGGCTCAAAGCCGGCTGCAGAGCCAGATGAGCGGGCAGCAGCTTGTGGAACAGAGCCACGTGGTGCTCAGCACCTTGTGGGAGCCGCATATCACCCAACGCCAGGTTGGTGCCCAGGGCAAGGCCGGGTTGTGGGGAAGGAGTCTCCAGTGGGTACTGCCTGACCCTGCCCTCTCTTCCTCCCAACATCCTGGCCTGTCTGAAGGTGGAGAAAGCCTGGGCCCTCTTGCAGAAGCGCATTCCCAAGACTCATCAGGCCCTCGACTGAAAAGTTCTCAGTGGGGCCAGACTGGCTCCTGGAGCTGACAAGCGACCCCGTGGTGAGGAGAAATGGGGGCCTTGATGCTCACCCTGGTTCAGGCCCAGAGGTCCAAGCTATACTGTGCAGGACATGGCCAGGCCTGGTGGACACAGGAAGCCTACCCAACACGCTGGTATTTGGCCAACACTGAGGATGTGGTTCATGGGGGAGCAGTCCCCTCCCCACTCTTGCCCATGGGTGACTCTTACCCACAGCTGACTAGGGCCAGCGCAAATACTGGAACCTGTAACAGAATTAAAGGTGAATGTTCTGAGATGTTGCTTGTATGGTGTCTGCTTCCTGTTCCAATGCCCCTAAGTATCTTTGGGATCCTTAAGCCACAAGTGCAGGGCCCAGGCCTGAGCTGGAAGCCTGGGCAATGCAGTGGTTAAGAGAATGGCCTTTGAGGCTAGCCAGAGGCGAGCTTTGGCCCTCCCACTGACCAGCTGTGTTCTTCTGAGTAAGGTGTAGACTTTCTAGGTACTGCCGTGTTTTATTGTTTTTGTTTTGTTTTTAATATGAGAGGCCGCATAACCTAGCTAGCAGGTTCTTTGCAAGGGTTCATTCCACATGCATCCTGCCAGACACTGGGCTGGGTGTTGGAAGATCAGCCTTCCGCGCGCCAGGCGGGGCCTCTGCCCTCACAGAGCTTGCAGCCTGGTGGGGTCGGACGATGTGGCTGGGGGCTTCTCTGCCCGGTTCCTGACACACCGGCCAGCAGTGCAGGTCCGGTGAGCGCGGGGAGGCCGCCCTCAGGGTAACGTGGGGAGCCGGCCGGCCGGACAGTGCGCGTGCACACACTATCTGCGGCGGTGTGCTGACAAGCCAATTGAGGGGACTCCATCTTACAAAACGCGCTTCATGTCGCCGCCATTCCACTGCCTAACCCGGGGAGGGCAGGCACGGCGGGGAGCAGTCTCGAAGGAGGCTGGCGCCAGGCCAAGCGCCGGGCCTTGACGGCTGGAACCGTGGAGTAAAGTCTTTGGGCTGCGCATGCGCGATGCTTCGCCCTGCCCCACCTCTCGGTCGCGGATTGGCGGGCGCGGGTCACGTGGGCACGCCACCCGCTTCCTCGCCGCAGGGGGCCCGCCCGCTGGCCCGTTTCCGGTCCGGTGGGTACAAGATGACGGAGCCGGGCGCCTCTCCCGAGGACCCTTGGGTCAAGGCAAGCCCCGTGGGCGCGCACGCCGGCGAGGGGAGGGCGGGTCGGGCTCGTGCACGTAGGGGGGCCGGAAGACGAGGGGCTTCCCTCCTGTCCCCAAAGTCCCCCACGCTCTCCGTGCCCCGGGGCTGCAGAGAAGACAGCTCTCACCCCGCGTGTGCCAAGGTGGGGAGACAAACGAGGCGTGTGCGCGCGAGTCGGGGGAACGGGGCACTGGGGTGGAGTAGGGGCGGAAGGGATCATACACAGGGGAGGCACTCGCACGCCCTAGCCTGTGCCAGTCTCGGGGGACTCATTAAGCTGCCCGCGCACCCCGGGCTGTGTGTGTGCAAGCGCGCAGGGTGACAGAGGCGCCTTCCCGGAATGGGGGGCGCGCTGTGCGTGCCTGCAGTGGAAGGGGCGCCTCCCCCTAGGGGCGGAGGTCTGACGGGCCCTTCCCGTGCTCTGTGCCGCAGGTGGAGTATGCCTACAGCGACAACAGCCTGGACCCCGGTGAGTAGCTGCCCCATCTTAAGCTCTAGAGGGACACTCCCGCCCAGGCTCTCTAGATTCTTGTGGCGTTGCCAACCACGCCTGAGCACAGTCCACTCTCCCTGAGCAGAGTTCCTGGCTTGAGACAGCAGGAGCTGAAGGACAAGGGCAGAAAACAACTGAGGGTGACACCTAGTTCCCTCTGCTCTGGAACAGGGAAGTGGTGGAACTGATCACTCACCACTCAGTGGAGCAGCTGATCACTCACACCCTCATCACGTCCACATGCCCGTTTGTGAGCCAGGGGGGTATCATGCAGGCCTATGGAGCAGTGTAGACACTAGGGAGCA | TTTTTCCCAAACTGGCCCATACTCTCCTCCCCAATAAAAAGATCTCACTGTTCTTCTGGGCTCCTTCCCCAGGCAAGTTGCTCCCTGAGCTGCTCCAACCTTATACAGAACGTGTGGAACATCTGAGTGAATTCCTGGTGGACATCAAGCCCTCCTTGACTTTTGATGTCATCCCCCTGCTGGACCCCTATGGGCCCGCTGGCTCTGACCCCTCCCTGGAGTTCCTGGTGGTCAGCGAGGAGACCTATCGTGGGGGGATGGCCATCAACCGCTTCCGCCTTGAGAATGTAACCCCTGAGGGAGACTGGCAGAGGGAGTGGATGGGGGACGGGGAAGGCCATTTTGAGGGGGCTGTTGGAAGTACCATGGCCCCAGAGGAGAGAAGTGGGGGCTCAGGGTGGTGGGAAGAAGCAAGGAGGAACTGGTTCTCAGTTTGCCCGCTGAGTCGGAGGAGGAGGAGCCTGGGTAGGAAGGGGAGGATGGGGGGGCAGGTTGGATGTCAGGGTCTTCCTCTCACTCCCTCCTTCCCTCTTTTTACCCTTTCCTCTTTACCCCAGGACCTGGAGGAACTTGCTTTGTACCAGATCCAGCTGCTGAAGGACCTCAGACATACAGAGAATGAAGAGGACAAAGTCAGCTCCTCCAGCTTCCGCCAGCGAATGTTGGGGAACCTGCTTCGGCCTCCATATGTAAGCTCCTCTCCCTCCTTCCCTCCTGCTTGGTGTCCTGGCAATGCTGGAGAGTAGAAGCTGAGGGGCTCAGCCCCAGGCATGAGGCTGAGGGCCCCAGTAACTGTGGGTTCCCTTTCACCTATCCCCAGGAAAGGCCAGAGCTCCCCACATGTCTCTATGTAATTGGGCTGACTGGCATCAGTGGCTCTGGGAAGAGCTCAATAGCTCAGCGACTGAAGGGCCTGGGGGCGTTTGTCATTGACAGTGACCACCTGGGTCATCGGGCCTATGCCCCAGGTGGCCCTGCCTACCAGCCTGTGGTGGAGGCCTTTGGAACAGGTAATAACTGGGGAAGGCTGAAAGTGGCCTGGAGTGAGGAGCTAGCCAGGCCTCTGTGCTCAGTTGTCTGTCTGTGTTGTCCAGATATTCTCCATAAAGATGGCATCATCAACAGGAAGGTCCTAGGCAGCCGGGTGTTTGGGAATAAGGTAAACAATAACTTCCTAAGGGCTCCTAAGCCGCTACTAGACCCAGGGGTCAGGGTCCAGTGGACCTCTCTGGTCTGGCCCAGAATGCCATTTCCATTGATCTGTTCCCAACACCACCTTGCTCGGGCTGGCTGCCTCTTCTAGAGAAGGTAACCTCTGCCCTCTGTTCCCCTCCCCAGAAGCAGCTGAAGATACTCACGGACATTATGTGGCCAATTATCGCAAAGCTGGCCCGAGAGGAGATGGATCGGGCTGTGGCTGAGGGTGAGTGGGAGGGAGGATGGCAACAGCTAAGGGGACAGTTAAGCTGTTTCTTCCCCTGGGAGCTTCCCTGCCCAACGTGGGACTGTCTGTTCACCCTGGGACTGTGTTCTGCCTGGGAGAACGTCGGCACTGCTGGCGGTGACTGGGGTCTCCCCACAGGAAAGCGTGTGTGTGTGATTGATGCCGCTGTGTTGCTTGAAGCCGGCTGGCAGAACCTGGTCCATGAGGTGTGGACTGCTGTCATCCCAGAGACTGAGGTATCTCGCCCCACCCCCCACACCATCCCTACTGCAGATCCTATCCTGTGAGCTGGAATTCTTCCTGACAAATGTCTCGTCTGTGCTCAGGCTGTAAGACGCATTGTGGAGAGGGATGGCCTCAGTGAAGCCGCGGCTCAAAGCCGGCTGCAGAGCCAGATGAGCGGGCAGCAGCTTGTGGAACAGAGCCACGTGGTGCTCAGCACCTTGTGGGAGCCGCATATCACCCAACGCCAGGTTGGTGCCCAGGGCAAGGCCGGGTTGTGGGGAAGGAGTCTCCAGTGGGTACTGCCTGACCCTGCCCTCTCTTCCTCCCAACATCCTGGCCTGTCTGAAGGTGGAGAAAGCCTGGGCCCTCTTGCAGAAGCACATTCCCAAGACTCATCAGGCCCTCGACTGAAAAGTTCTCAGTGGGGCCAGACTGGCTCCTGGAGCTGACAAGCGACCCCGTGGTGAGGAGAAATGGGGGCCTTGATGCTCACCCTGGTTCAGGCCCAGAGGTCCAAGCTATACTGTGCAGGACATGGCCAGGCCTGGTGGACACAGGAAGCCTACCCAACACGCTGGTATTTGGCCAACACTGAGGATGTGGTTCATGGGGGAGCAGTCCCCTCCCCACTCTTGCCCATGGGTGACTCTTACCCACAGCTGACTAGGGCCAGCGCAAATACTGGAACCTGTAACAGAATTAAAGGTGAATGTTCTGAGATGTTGCTTGTATGGTGTCTGCTTCCTGTTCCAATGCCCCTAAGTATCTTTGGGATCCTTAAGCCACAAGTGCAGGGCCCAGGCCTGAGCTGGAAGCCTGGGCAATGCAGTGGTTAAGAGAATGGCCTTTGAGGCTAGCCAGAGGCGAGCTTTGGCCCTCCCACTGACCAGCTGTGTTCTTCTGAGTAAGGTGTAGACTTTCTAGGTACTGCCGTGTTTTATTGTTTTTGTTTTGTTTTTAATATGAGAGGCCGCATAACCTAGCTAGCAGGTTCTTTGCAAGGGTTCATTCCACATGCATCCTGCCAGACACTGGGCTGGGTGTTGGAAGATCAGCCTTCCGCGCGCCAGGCGGGGCCTCTGCCCTCACAGAGCTTGCAGCCTGGTGGGGTCGGACGATGTGGCTGGGGGCTTCTCTGCCCGGTTCCTGACACACCGGCCAGCAGTGCAGGTCCGGTGAGCGCGGGGAGGCCGCCCTCAGGGTAACGTGGGGAGCCGGCCGGCCGGACAGTGCGCGTGCACACACTATCTGCGGCGGTGTGCTGACAAGCCAATTGAGGGGACTCCATCTTACAAAACGCGCTTCATGTCGCCGCCATTCCACTGCCTAACCCGGGGAGGGCAGGCACGGCGGGGAGCAGTCTCGAAGGAGGCTGGCGCCAGGCCAAGCGCCGGGCCTTGACGGCTGGAACCGTGGAGTAAAGTCTTTGGGCTGCGCATGCGCGATGCTTCGCCCTGCCCCACCTCTCGGTCGCGGATTGGCGGGCGCGGGTCACGTGGGCACGCCACCCGCTTCCTCGCCGCAGGGGGCCCGCCCGCTGGCCCGTTTCCGGTCCGGTGGGTACAAGATGACGGAGCCGGGCGCCTCTCCCGAGGACCCTTGGGTCAAGGCAAGCCCCGTGGGCGCGCACGCCGGCGAGGGGAGGGCGGGTCGGGCTCGTGCACGTAGGGGGGCCGGAAGACGAGGGGCTTCCCTCCTGTCCCCAAAGTCCCCCACGCTCTCCGTGCCCCGGGGCTGCAGAGAAGACAGCTCTCACCCCGCGTGTGCCAAGGTGGGGAGACAAACGAGGCGTGTGCGCGCGAGTCGGGGGAACGGGGCACTGGGGTGGAGTAGGGGCGGAAGGGATCATACACAGGGGAGGCACTCGCACGCCCTAGCCTGTGCCAGTCTCGGGGGACTCATTAAGCTGCCCGCGCACCCCGGGCTGTGTGTGTGCAAGCGCGCAGGGTGACAGAGGCGCCTTCCCGGAATGGGGGGCGCGCTGTGCGTGCCTGCAGTGGAAGGGGCGCCTCCCCCTAGGGGCGGAGGTCTGACGGGCCCTTCCCGTGCTCTGTGCCGCAGGTGGAGTATGCCTACAGCGACAACAGCCTGGACCCCGGTGAGTAGCTGCCCCATCTTAAGCTCTAGAGGGACACTCCCGCCCAGGCTCTCTAGATTCTTGTGGCGTTGCCAACCACGCCTGAGCACAGTCCACTCTCCCTGAGCAGAGTTCCTGGCTTGAGACAGCAGGAGCTGAAGGACAAGGGCAGAAAACAACTGAGGGTGACACCTAGTTCCCTCTGCTCTGGAACAGGGAAGTGGTGGAACTGATCACTCACCACTCAGTGGAGCAGCTGATCACTCACACCCTCATCACGTCCACATGCCCGTTTGTGAGCCAGGGGGGTATCATGCAGGCCTATGGAGCAGTGTAGACACTAGGGAGCA |
Task1_train_24493 | This gene mutation involves TUBG1 (tubulin gamma 1) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Complex cortical dysplasia with other brain malformations 4 | TAATCTCCGTCATCATTTCCTAACTGTTCTTTAAAAGCTTGTAATTTTCTTTCAATTTTCAGCTTTGGGGGCTCACACTGACGCTTAGACTTCATAAACTTCCTTCCTAGATATATAACATGCTAATTCATGCGAATCGCTCAAGCTTGTTTTATAATCACACCTATGGATACCTTTGCAAGACTTCACGCCTCTACTCCAACAATAAACTACTAAAACCTCTGGAAACAATCTAGAACTTGCACTTGAGCAGACAAGAGAAAGGAAGTGATGGCTTTAAAGGGACGCAGCTTTGTCGGGCTCAAAAGAGGAGCCCTCGCTCACTCTTGAGCGGCTCAAGATGTTACCAGAAGCTCCCGCCAGATGTGCGGGGCGGGGGTGCGGGCACAGGTAAGGCAGAGAAGATGGGTGGACGGCCCTGGGAAGAACTAGGGTGCCGAAGCCTGCAGGCGGGATGGAGTGGAAGGAGGTGAGGCAAAATTAGGCAAGTACAGGAAGGAGCCAGTGCAGCGAAGAAAACAGGGCAGGCGAGAAGTAGAGCCCTAGAGGAACCAACGAATTCGGGACTCGGAGGGTTTCCGAGGGTCCAGTTCTCTCACCAGAAAGCCGCGTTCAGCCCCAGGCACCACAGAGCGCTCCTAGCTGGCCGCTCCCACACCAGGGCTGCCTGCACCCGACTCAGCAGAGGCTCGTAAGGCCCCAGCACCTCCACCAGGGCCCGCTGCGCCGCCTCAACCTGCTGGTCCCGCTCCCAGGAGCCTGACACATCTCGGCGGCCCCTGAAAGTCGACCCCGAAGCCGGGCCTGGGGTCGTGGGAACCCCTTCGGCCTCAGCCATCTCCCCGCGGCAGCCACAACATCCGGGGCCGTGGCCCGACAAGTCACAATAACAGCAACTGCGCAGATGCGCGATTCGGCGGGGGAGGTGGCTTCGCACCACAGCGCGCTTGCGCGCAGGCCCAAGCAGGCGCCCACCCAGAGGGGAGGGAGGACGCCGTACCCCGCCCTCACTGAGGCGCGGAGCCGGATCCGGAGGCGCCGAGCCGCATCCGGAGCCGCGCACGCGCAATCTGCATGAACGAAGGCCAGTGCTTAAAGACGTGCCATTCATTGCCAGAACTCGATTCTCATTGGAGCGGAGGAAGTTCGTGGGTGGAGCTGGTTGTTTGGCGCCTGCGTCTTGCGGCGAGCGGGCTGGCGTGCGGCGCCGTTGCGGGCGGGAGCGGCTGCAACGCCGGTGCCTGAGGAGCGATGCCGAGGGAAATCATCACCCTACAGTTGGGCCAGTGCGGCAATCAGAGTGAGCGAAACTCCGGCCCCTCAGCTAGCCAGGTTCCTTAGGGTCAATGGGATCTCGCTGTGGGATCCTGGACTCCATCTGTCCTTGCCAGAATCGTAGTTCTCTGAAAGGCGAGACATCCCTGACCCAGTGTCCACTTGCCCAACCCCGAGGGGCCCTCCCCTGCCCAGTCCCTGGCGTACAGTCCTTTCCTCAGACACGGGAGAGTCCTGCGGCTTGACTTCTTATCCCTGGACGCAGGCGCCCAGTCCCCCGGCTCCTGATTGGAACCTGCCCGGACCTAGATATCTTCTTTCTCCCCTGCCCGCCCCTTCCCCCCAGTTGGGTTCGAGTTCTGGAAACAGCTGTGCGCCGAGCATGGTATCAGCCCCGAGGGCATCGTGGAGGAGTTCGCCACCGAGGGCACTGACCGCAAGGACGTCTTTTTCTACCAGGTGCCCCCAGCGACTTGGCCGGGGGCGGCAGTTGCCCAAGGGGGCGGAAGGGAAGGGAGTGGCCTGGTACTGGGAACCCCGCTGGGCAGTAGGGCCAGGCGGCTGGCTTGAGGAGGGAGGGCCGGAGGGAGCCAGAGTTGGGAGGACTTCGGACTTGGGCCGCCCTAGCTGATTGGGCCCCCTCCTGGACTCCCCTTGACAGGCAGACGATGAGCACTACATCCCCCGGGCCGTGCTGCTGGACTTGGAACCCCGGGTGATCCACTCCATCCTCAACTCCCCCTATGCCAAGCTCTACAACCCAGAGAACATCTACCTGTCGGAACATGGAGGAGGAGCTGGCAACAACTGGGCCAGCGGATTCTCCCAGGTCGTTTCCTATTCCCTGGCAGGGCCCACAACTCGCTGGGTAGGGACAGGCTCTATGACGTCCCGAAGAGAGGGAAAACCGGATCAGGGATGTATGAATGCTGGAGGGAGAGACCTGGCTGCAGGGAGTGGACTATGTAATATTGTCAAGCGCCTACACTAGCTAATGCAGTGTGCCAGGTCATTCTAAGTGCTTTACATATATTAATTTTTCTAAATCTCCCAACAACCCTAGAAGTAAGTACTACAGGTCCACAGTCCCTTATCTGCCTTTCCAGGATCCAGAAAGCCATGAAACCAAAGGACATTTCATAACTAGTTTATCAGCAAAAACAAATTTCAATGAAGACAGGCTGTTTTATAGTTTCTTTTTTTTAATTTTTATTTATTTATTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGCTCTCAGCTCACTGCAACCTCTGCTGCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCTTGCCATCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAACCGCCATGCCCGGCCCTATAGTTTCTATCCAACTTACTGTCATTAGTGATGCCTTTTATTACAGAAATACTAATATATTTGATTAACGTGCTTCTGATTAAATAAAAATTCCCACTGGAATTTTATTTAATATATAGTATATATACCATAATACCTTTCTAAAATCTGAAATATTTTGAATTCCAAAACATAACTGGCCCCAACACTGTTAGATAAGGGTATATGGACCTGTATTATTACCTTCATTGTACAGATGAGGAAACTGAGGCATAGAGCAATTAAATAAGCTGCCCAGAGCTACATAGAAGTAGAGTTAATGGGCCAGGCGTGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTAGCCAACATGGTGAAACTCTGATTCTACTAAAAATACAAAAAATAGCTGGGCATGGTGGCATGCGCCTATAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGACGGAGGTTGCCATGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGAGAAAGAGAGAGACTCCATCGCAAAAAAAAATAGAGCTAATGTATGAACCCAGGTAGTCTGGGTGTAGAGTGCTTTCTTGTAACCACTGCACCGTACTGCCTCTCAATGTAGATAAAAGCAGGTAGCTATGCTCCATAAAAGGACTTCTGGGTGTTATAAGGAGAATTGAGGGTGGCTTTTCTGAGGTCAGAGACCTCCCATGGTTCTGTCCCACTCTGACCCTCCCCTATGTCTGTACAGGGAGAAAAGATCCATGAGGACATTTTTGACATCATAGACCGGGAGGCAGATGGTAGTGACAGTCTAGAGGTAAGTGTCCCAGGAATGCTGGTAGGAGCCGACATGGGCAAGGCTTGGCAGCACCCTCTAGAAGCGACCTGTTAGGAACAAGACCCACTCATGTACCCTTTGCACTGGACAGAAGCTATCAGGCCTTGCCAGAAACAAGGCAGTTGCCTAAGCTGTATAAGTGAGGGGACTGGATGGGAAGCAAGGGCTCGGGAAAATGGGAGTCCTAAAAAACTATGAGATGGGTCTAGTTTGACATCCTGCCACTAGATACCTGTACACTGACTGCCCCTTCCCCATGCAGGGCTTTGTGCTGTGTCACTCCATTGCTGGGGGGACAGGCTCTGGACTGGGTTCCTACCTCTTAGAACGGCTGAATGACAGGTAAGTTTGTGTTTGGGGATTAGGAAAGGTCTCCAACTTGGCTTCCTAAATGACTAGGGGACCCAGCAGATATAAC | TAATCTCCGTCATCATTTCCTAACTGTTCTTTAAAAGCTTGTAATTTTCTTTCAATTTTCAGCTTTGGGGGCTCACACTGACGCTTAGACTTCATAAACTTCCTTCCTAGATATATAACATGCTAATTCATGCGAATCGCTCAAGCTTGTTTTATAATCACACCTATGGATACCTTTGCAAGACTTCACGCCTCTACTCCAACAATAAACTACTAAAACCTCTGGAAACAATCTAGAACTTGCACTTGAGCAGACAAGAGAAAGGAAGTGATGGCTTTAAAGGGACGCAGCTTTGTCGGGCTCAAAAGAGGAGCCCTCGCTCACTCTTGAGCGGCTCAAGATGTTACCAGAAGCTCCCGCCAGATGTGCGGGGCGGGGGTGCGGGCACAGGTAAGGCAGAGAAGATGGGTGGACGGCCCTGGGAAGAACTAGGGTGCCGAAGCCTGCAGGCGGGATGGAGTGGAAGGAGGTGAGGCAAAATTAGGCAAGTACAGGAAGGAGCCAGTGCAGCGAAGAAAACAGGGCAGGCGAGAAGTAGAGCCCTAGAGGAACCAACGAATTCGGGACTCGGAGGGTTTCCGAGGGTCCAGTTCTCTCACCAGAAAGCCGCGTTCAGCCCCAGGCACCACAGAGCGCTCCTAGCTGGCCGCTCCCACACCAGGGCTGCCTGCACCCGACTCAGCAGAGGCTCGTAAGGCCCCAGCACCTCCACCAGGGCCCGCTGCGCCGCCTCAACCTGCTGGTCCCGCTCCCAGGAGCCTGACACATCTCGGCGGCCCCTGAAAGTCGACCCCGAAGCCGGGCCTGGGGTCGTGGGAACCCCTTCGGCCTCAGCCATCTCCCCGCGGCAGCCACAACATCCGGGGCCGTGGCCCGACAAGTCACAATAACAGCAACTGCGCAGATGCGCGATTCGGCGGGGGAGGTGGCTTCGCACCACAGCGCGCTTGCGCGCAGGCCCAAGCAGGCGCCCACCCAGAGGGGAGGGAGGACGCCGTACCCCGCCCTCACTGAGGCGCGGAGCCGGATCCGGAGGCGCCGAGCCGCATCCGGAGCCGCGCACGCGCAATCTGCATGAACGAAGGCCAGTGCTTAAAGACGTGCCATTCATTGCCAGAACTCGATTCTCATTGGAGCGGAGGAAGTTCGTGGGTGGAGCTGGTTGTTTGGCGCCTGCGTCTTGCGGCGAGCGGGCTGGCGTGCGGCGCCGTTGCGGGCGGGAGCGGCTGCAACGCCGGTGCCTGAGGAGCGATGCCGAGGGAAATCATCACCCTACAGTTGGGCCAGTGCGGCAATCAGAGTGAGCGAAACTCCGGCCCCTCAGCTAGCCAGGTTCCTTAGGGTCAATGGGATCTCGCTGTGGGATCCTGGACTCCATCTGTCCTTGCCAGAATCGTAGTTCTCTGAAAGGCGAGACATCCCTGACCCAGTGTCCACTTGCCCAACCCCGAGGGGCCCTCCCCTGCCCAGTCCCTGGCGTACAGTCCTTTCCTCAGACACGGGAGAGTCCTGCGGCTTGACTTCTTATCCCTGGACGCAGGCGCCCAGTCCCCCGGCTCCTGATTGGAACCTGCCCGGACCTAGATATCTTCTTTCTCCCCTGCCCGCCCCTTCCCCCCAGTTGGGTTCGAGTTCTGGAAACAGCTGTGCGCCGAGCATGGTATCAGCCCCGAGGGCATCGTGGAGGAGTTCGCCACCGAGGGCACTGACCGCAAGGACGTCTTTTTCTACCAGGTGCCCCCAGCGACTTGGCCGGGGGCGGCAGTTGCCCAAGGGGGCGGAAGGGAAGGGAGTGGCCTGGTACTGGGAACCCCGCTGGGCAGTAGGGCCAGGCGGCTGGCTTGAGGAGGGAGGGCCGGAGGGAGCCAGAGTTGGGAGGACTTCGGACTTGGGCCGCCCTAGCTGATTGGGCCCCCTCCTGGACTCCCCTTGACAGGCAGACGATGAGCACTACATCCCCCGGGCCGTGCTGCTGGACTTGGAACCCCGGGTGATCCACTCCATCCTCAACTCCCCCTATGCCAAGCTCTACAACCCAGAGAACATCTGCCTGTCGGAACATGGAGGAGGAGCTGGCAACAACTGGGCCAGCGGATTCTCCCAGGTCGTTTCCTATTCCCTGGCAGGGCCCACAACTCGCTGGGTAGGGACAGGCTCTATGACGTCCCGAAGAGAGGGAAAACCGGATCAGGGATGTATGAATGCTGGAGGGAGAGACCTGGCTGCAGGGAGTGGACTATGTAATATTGTCAAGCGCCTACACTAGCTAATGCAGTGTGCCAGGTCATTCTAAGTGCTTTACATATATTAATTTTTCTAAATCTCCCAACAACCCTAGAAGTAAGTACTACAGGTCCACAGTCCCTTATCTGCCTTTCCAGGATCCAGAAAGCCATGAAACCAAAGGACATTTCATAACTAGTTTATCAGCAAAAACAAATTTCAATGAAGACAGGCTGTTTTATAGTTTCTTTTTTTTAATTTTTATTTATTTATTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGCTCTCAGCTCACTGCAACCTCTGCTGCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCTTGCCATCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAACCGCCATGCCCGGCCCTATAGTTTCTATCCAACTTACTGTCATTAGTGATGCCTTTTATTACAGAAATACTAATATATTTGATTAACGTGCTTCTGATTAAATAAAAATTCCCACTGGAATTTTATTTAATATATAGTATATATACCATAATACCTTTCTAAAATCTGAAATATTTTGAATTCCAAAACATAACTGGCCCCAACACTGTTAGATAAGGGTATATGGACCTGTATTATTACCTTCATTGTACAGATGAGGAAACTGAGGCATAGAGCAATTAAATAAGCTGCCCAGAGCTACATAGAAGTAGAGTTAATGGGCCAGGCGTGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTAGCCAACATGGTGAAACTCTGATTCTACTAAAAATACAAAAAATAGCTGGGCATGGTGGCATGCGCCTATAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGACGGAGGTTGCCATGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGAGAAAGAGAGAGACTCCATCGCAAAAAAAAATAGAGCTAATGTATGAACCCAGGTAGTCTGGGTGTAGAGTGCTTTCTTGTAACCACTGCACCGTACTGCCTCTCAATGTAGATAAAAGCAGGTAGCTATGCTCCATAAAAGGACTTCTGGGTGTTATAAGGAGAATTGAGGGTGGCTTTTCTGAGGTCAGAGACCTCCCATGGTTCTGTCCCACTCTGACCCTCCCCTATGTCTGTACAGGGAGAAAAGATCCATGAGGACATTTTTGACATCATAGACCGGGAGGCAGATGGTAGTGACAGTCTAGAGGTAAGTGTCCCAGGAATGCTGGTAGGAGCCGACATGGGCAAGGCTTGGCAGCACCCTCTAGAAGCGACCTGTTAGGAACAAGACCCACTCATGTACCCTTTGCACTGGACAGAAGCTATCAGGCCTTGCCAGAAACAAGGCAGTTGCCTAAGCTGTATAAGTGAGGGGACTGGATGGGAAGCAAGGGCTCGGGAAAATGGGAGTCCTAAAAAACTATGAGATGGGTCTAGTTTGACATCCTGCCACTAGATACCTGTACACTGACTGCCCCTTCCCCATGCAGGGCTTTGTGCTGTGTCACTCCATTGCTGGGGGGACAGGCTCTGGACTGGGTTCCTACCTCTTAGAACGGCTGAATGACAGGTAAGTTTGTGTTTGGGGATTAGGAAAGGTCTCCAACTTGGCTTCCTAAATGACTAGGGGACCCAGCAGATATAAC |
Task1_train_24494 | Given this context: Chromosome 17, gene TUBG1 (tubulin gamma 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Complex cortical dysplasia with other brain malformations 4 | ATGAGATGGGTCTAGTTTGACATCCTGCCACTAGATACCTGTACACTGACTGCCCCTTCCCCATGCAGGGCTTTGTGCTGTGTCACTCCATTGCTGGGGGGACAGGCTCTGGACTGGGTTCCTACCTCTTAGAACGGCTGAATGACAGGTAAGTTTGTGTTTGGGGATTAGGAAAGGTCTCCAACTTGGCTTCCTAAATGACTAGGGGACCCAGCAGATATAACTCCATATTTGCTGGAACAGGAAAGAGTTCTTATATTCCCTCCTATAGAGAGGAAAATGAAGTTACAATGACTGAGAACCCCATCACACTCCCAGTAGTGGGAACTGGAGCCTAGAACCTGAGCCCTGGATGAAAGTCGAGGGAGTGTGGCCAGGTCTCAATTTGGAAGCCCAGAGTCTAAGATGTCTCTGCCCTTCCCCCTGTAGGGCTACAGACTTCCAAAAGTCAAGGCTCCCTTCTCTACTGATTTGACCCCACCCCAGTTTCGCCATCAAGATTTATCTGCTTCTGGACAGTTGTTAGGGAGCGCCATGTTCACCAGGCCTTCGGTCTGTTGCCCTGATCCTTTCCCCAACCCCCACCAGGTATCCTAAGAAGCTGGTGCAGACATACTCAGTGTTTCCCAACCAGGACGAGATGAGCGATGTGGTGGTCCAGCCTTACAATTCACTCCTCACACTCAAGAGGCTGACGCAGAATGCAGACTGTGTGGTGAGTCCTGGATTCTACCTCTCCCAACTCTCAACACCCCATACCCACTCGAGTCTATTAAATCATTTTCATGTATTTAAAAAAAATCCATTTTAGCCAGGTGCAGTGGCTCATGACTGTAATCCCATCACTTTGGGAGGCCAAGGTCGTTGGATCGTTTGAGTTTAGGAGTTCGAGACCAGCCTGGGCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCGGGAGTGGTGATATGTGCAGAAGGATCACTTGTGCCTCAGAGGCAGGGGCTGCAGTGAGCTGAGATCATGTCACTGACTGCACTCCAGCCGGGGTGACAAAGTGAAACCCTGTCTCAAAAAACAAGAACAAAAAAAAAAACTGTTTAAATAATTAAGATGAAAAGAAAAATTTAAAAATCCATTTTGAGCCCTCCTTTGCCCTAGGTCAGTGCAAATCTCTTTCCAGTGAGTCTTTCTGGCCATGAAGCTCAAAGGAAATTAAGCTTCAGAGCCTAGGGTCAGGCAGAGCTCCTGTTTTTCTTATCCCCATTGATCTGTGATCCTCTTCTGTCCCCCCAGGTGGTGCTGGACAACACAGCCCTGAACCGGATTGCCACAGACCGCCTGCACATCCAGAACCCATCCTTCTCCCAGATCAACCAGCTGGTGGGCCCCCACTCCTGGACTCCTTTGGACTTGAAGCCCTCCTTGTTGGAGGGTCATTTGGGGAAGGGAGGTCCCACCCAGGCTGAGGCCCATAACATGGCACGCCTGTCCCCAGGTGTCTACCATCATGTCAGCCAGCACCACCACCCTGCGCTACCCTGGCTACATGAACAATGACCTCATCGGCCTCATCGCCTCGCTCATTCCCACCCCACGGCTCCACTTCCTCATGACCGGCTACACCCCTCTCACTACGGACCAGTCAGTAAGAGCAGCCTTCAGTGTCCCAGGCCAGGCCGGCCCTGGGCCCAACAGGCCCTGTCCTAGCCTTTCTCTCTTCCCCACTGCCCCAGGAGCTACCCTTTGTGGACCCCAAGGCGCGGCGCTCAGGGACTGGCACAGAGTGGGCGACTTTCTTGCTGACTTGCTCTCCACCCTCCCTCTGCCTTTGGCTTCTGCCAAAGAGAAGCCAAAGGGGGACTGTGCCCTGAGCGCTGGCCGGGTCCCTGTCTCACTGTCCTATCAGGTGGCCAGCGTGAGGAAGACCACGGTCCTGGATGTCATGAGGCGGCTGCTGCAGCCCAAGAACGTGATGGTGTCCACAGGCCGAGACCGCCAGACCAACCACTGCTACATCGCCATCCTCAACATCATCCAGGGAGAGGTGGACCCCACCCAGGTAGGGGAGGCCCCTTCATCCCACACCCTGGACCTGCAGGGGTAGAGGAGAGGCCACCTCCACTGCTCCTATGCCCACCCCAGGTCCACAAGAGCTTGCAGAGGATCCGGGAACGCAAGTTGGCCAACTTCATCCCGTGGGGCCCCGCCAGCATCCAGGTGGCCCTGTCGAGGAAGTCTCCCTACCTGCCCTCGGCCCACCGGGTCAGCGGGCTCATGATGGCCAACCACACCAGCATCTCCTCGGTGAGTCTCAAAGTTTGCACCTTTTTTCCCTGAATCAGTTTCCTGACTATACCTCACCTCTCTGCATCTGCTGGCCCTGCTTCTAGCTTTTTTGCTGTGGGCATAGCCCAGCCTTGGTTCCCCAGCTTTCTGGGCCACGTTATTCTTTGAAGTTCTTTGTAACCCCTGTTTTCTGCACACCCCAAGCTCTTCGAGAGAACCTGTCGCCAGTATGACAAGCTGCGTAAGCGGGAGGCCTTCCTGGAGCAGTTCCGCAAGGAGGACATGTTCAAGGACAACTTTGATGAGATGGACACATCCAGGGAGATTGTGCAGCAGCTCATCGATGAGTACCATGCGGCCACACGGCCAGACTACATCTCCTGGGGCACCCAGGAGCAGTGAGTCCCCCAGGACAGGGACCCTCATCTGCCTTACTGGTTGGCCCAAGCCCTGCCTGACTGACCACCCCCTCAGAGCACAGATCAGGGACCTCACGCATCTCTTTCTCATATACATGGACTCTCTGTTGGCCTGCAAACACATTTACTTCTCCTCTTATGAGACTATTTATCTTTAATAAAGCACTGGATATAAATCAAGTCACTGCTCCCTTTAAAGCCTTTGGGTTCTGGAGATGCGGTGGGGATGCCTGTTCTTTCTCCATCATTCTGACAGGGTCCTCACCCACTTCCAGCATCTTCAATTCTGAACCAACAGCTTCCCCTAGGTTTTTCCTCTGCCTAGTTTTGGAGAACGCTGGTGGGGTTTGACCCACCTGAAATTCCTTTCCAGGGTAAAAAGGCCCAGAGATATTACTTTGTTCTCTGTCTGACCCTTTCTGGGTCCCCGTTCCCTCCCACCCTCACTGTATCAGGTGAATATTCCACCAGCCTCATGTTTCCACATCAGAGTGTCTGATTAATCACAACCTGAGGCCCAAGGCCACCACCACTGCCACTAGGCCATGAACAAGCAATGGAGTCCAACCCAATACCTTTAAGCTTCTAGCAAGCAGTCCAGGAGAGCCGCTCGTTTCAGGCAGTTGGAGTCTAGCAGCATCAAGTCAGCGACCAAATCTAAAACCTAGACTGTAAGCAGGATCATAAGTGGTTCCATAGCTAAGGCACCGTAATTCTCTTCTCTAGTGGTTGCCAGTAATTTAAATGGCCAGTGCCTTCTACTTCTGGTGGAAGATTGCAGGGAGGTAGTAAATACATAGGGGCCTAAGTCTTCAGGATTGTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCGCTTTGTCACCCAGGCTGGAATGCAGTGGCATAATCACGGTTCACTGCAGCCTCGACCTCCCTGGCTCAGGCGATCCTCCTGTCTCAGCCTCTTAAGTAGCTGGGATCACAGGCACACACCACCTAAATCTTCAGGATAAAAAGGGCAAAGCAGGTTCTCCTTAGAGCATGGTGGGTTGTCAGGGCCCCATTAGGCTCTTATACACACCATAAAGTTATATAGTAGTGACAGCTAACACGCACACATACGCTGTGAGAAGTACATTATTTTGTTGAATCCTCACAACAACCCTATGAAGTGGTAGATACTAATTTTTTTTTTTTTGAAATGGAGTCTGGCTCTATTCCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCCAGCAGTTCTCCTGTCTCAGCCTCCCAAGCAGCTGGGACTACAGGTGCCCGCCACTGCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA | ATGAGATGGGTCTAGTTTGACATCCTGCCACTAGATACCTGTACACTGACTGCCCCTTCCCCATGCAGGGCTTTGTGCTGTGTCACTCCATTGCTGGGGGGACAGGCTCTGGACTGGGTTCCTACCTCTTAGAACGGCTGAATGACAGGTAAGTTTGTGTTTGGGGATTAGGAAAGGTCTCCAACTTGGCTTCCTAAATGACTAGGGGACCCAGCAGATATAACTCCATATTTGCTGGAACAGGAAAGAGTTCTTATATTCCCTCCTATAGAGAGGAAAATGAAGTTACAATGACTGAGAACCCCATCACACTCCCAGTAGTGGGAACTGGAGCCTAGAACCTGAGCCCTGGATGAAAGTCGAGGGAGTGTGGCCAGGTCTCAATTTGGAAGCCCAGAGTCTAAGATGTCTCTGCCCTTCCCCCTGTAGGGCTACAGACTTCCAAAAGTCAAGGCTCCCTTCTCTACTGATTTGACCCCACCCCAGTTTCGCCATCAAGATTTATCTGCTTCTGGACAGTTGTTAGGGAGCGCCATGTTCACCAGGCCTTCGGTCTGTTGCCCTGATCCTTTCCCCAACCCCCACCAGGTATCCTAAGAAGCTGGTGCAGACATACTCAGTGTTTCCCAACCAGGACGAGATGAGCGATGTGGTGGTCCAGCCTTACAATTCACTCCTCACACTCAAGAGGCTGACGCAGAATGCAGACTGTGTGGTGAGTCCTGGATTCTACCTCTCCCAACTCTCAACACCCCATACCCACTCGAGTCTATTAAATCATTTTCATGTATTTAAAAAAAATCCATTTTAGCCAGGTGCAGTGGCTCATGACTGTAATCCCATCACTTTGGGAGGCCAAGGTCGTTGGATCGTTTGAGTTTAGGAGTTCGAGACCAGCCTGGGCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCGGGAGTGGTGATATGTGCAGAAGGATCACTTGTGCCTCAGAGGCAGGGGCTGCAGTGAGCTGAGATCATGTCACTGACTGCACTCCAGCCGGGGTGACAAAGTGAAACCCTGTCTCAAAAAACAAGAACAAAAAAAAAAACTGTTTAAATAATTAAGATGAAAAGAAAAATTTAAAAATCCATTTTGAGCCCTCCTTTGCCCTAGGTCAGTGCAAATCTCTTTCCAGTGAGTCTTTCTGGCCATGAAGCTCAAAGGAAATTAAGCTTCAGAGCCTAGGGTCAGGCAGAGCTCCTGTTTTTCTTATCCCCATTGATCTGTGATCCTCTTCTGTCCCCCCAGGTGGTGCTGGACAACACAGCCCTGAACCGGATTGCCACAGACCGCCTGCACATCCAGAACCCATCCTTCTCCCAGATCAACCAGCTGGTGGGCCCCCACTCCTGGACTCCTTTGGACTTGAAGCCCTCCTTGTTGGAGGGTCATTTGGGGAAGGGAGGTCCCACCCAGGCTGAGGCCCATAACATGGCACGCCTGTCCCCAGGTGTCTACCATCATGTCAGCCAGCACCACCACCCTGCGCTACCCTGGCTACATGAACAATGACCTCATCGGCCTCATCGCCTCGCTCATTCCCACCCCACGGCTCCACTTCCTCATGACCGGCTACACCCCTCTCACTACGGACCAGTCAGTAAGAGCAGCCTTCAGTGTCCCAGGCCAGGCCGGCCCTGGGCCCAACAGGCCCTGTCCTAGCCTTTCTCTCTTCCCCACTGCCCCAGGAGCTACCCTTTGTGGACCCCAAGGCGCGGCGCTCAGGGACTGGCACAGAGTGGGCGACTTTCTTGCTGACTTGCTCTCCACCCTCCCTCTGCCTTTGGCTTCTGCCAAAGAGAAGCCAAAGGGGGACTGTGCCCTGAGCGCTGGCCGGGTCCCTGTCTCACTGTCCTATCAGGTGGCCAGCGTGAGGAAGACCACGGTCCTGGATGTCATGAGGCGGCTGCTGCAGCCCAAGAACGTGATGGTGTCCACAGGCCGAGACCGCCAGACCAACCACTGCTACATCGCCATCCTCAACATCATCCAGGGAGAGGTGGACCCCCCCCAGGTAGGGGAGGCCCCTTCATCCCACACCCTGGACCTGCAGGGGTAGAGGAGAGGCCACCTCCACTGCTCCTATGCCCACCCCAGGTCCACAAGAGCTTGCAGAGGATCCGGGAACGCAAGTTGGCCAACTTCATCCCGTGGGGCCCCGCCAGCATCCAGGTGGCCCTGTCGAGGAAGTCTCCCTACCTGCCCTCGGCCCACCGGGTCAGCGGGCTCATGATGGCCAACCACACCAGCATCTCCTCGGTGAGTCTCAAAGTTTGCACCTTTTTTCCCTGAATCAGTTTCCTGACTATACCTCACCTCTCTGCATCTGCTGGCCCTGCTTCTAGCTTTTTTGCTGTGGGCATAGCCCAGCCTTGGTTCCCCAGCTTTCTGGGCCACGTTATTCTTTGAAGTTCTTTGTAACCCCTGTTTTCTGCACACCCCAAGCTCTTCGAGAGAACCTGTCGCCAGTATGACAAGCTGCGTAAGCGGGAGGCCTTCCTGGAGCAGTTCCGCAAGGAGGACATGTTCAAGGACAACTTTGATGAGATGGACACATCCAGGGAGATTGTGCAGCAGCTCATCGATGAGTACCATGCGGCCACACGGCCAGACTACATCTCCTGGGGCACCCAGGAGCAGTGAGTCCCCCAGGACAGGGACCCTCATCTGCCTTACTGGTTGGCCCAAGCCCTGCCTGACTGACCACCCCCTCAGAGCACAGATCAGGGACCTCACGCATCTCTTTCTCATATACATGGACTCTCTGTTGGCCTGCAAACACATTTACTTCTCCTCTTATGAGACTATTTATCTTTAATAAAGCACTGGATATAAATCAAGTCACTGCTCCCTTTAAAGCCTTTGGGTTCTGGAGATGCGGTGGGGATGCCTGTTCTTTCTCCATCATTCTGACAGGGTCCTCACCCACTTCCAGCATCTTCAATTCTGAACCAACAGCTTCCCCTAGGTTTTTCCTCTGCCTAGTTTTGGAGAACGCTGGTGGGGTTTGACCCACCTGAAATTCCTTTCCAGGGTAAAAAGGCCCAGAGATATTACTTTGTTCTCTGTCTGACCCTTTCTGGGTCCCCGTTCCCTCCCACCCTCACTGTATCAGGTGAATATTCCACCAGCCTCATGTTTCCACATCAGAGTGTCTGATTAATCACAACCTGAGGCCCAAGGCCACCACCACTGCCACTAGGCCATGAACAAGCAATGGAGTCCAACCCAATACCTTTAAGCTTCTAGCAAGCAGTCCAGGAGAGCCGCTCGTTTCAGGCAGTTGGAGTCTAGCAGCATCAAGTCAGCGACCAAATCTAAAACCTAGACTGTAAGCAGGATCATAAGTGGTTCCATAGCTAAGGCACCGTAATTCTCTTCTCTAGTGGTTGCCAGTAATTTAAATGGCCAGTGCCTTCTACTTCTGGTGGAAGATTGCAGGGAGGTAGTAAATACATAGGGGCCTAAGTCTTCAGGATTGTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCGCTTTGTCACCCAGGCTGGAATGCAGTGGCATAATCACGGTTCACTGCAGCCTCGACCTCCCTGGCTCAGGCGATCCTCCTGTCTCAGCCTCTTAAGTAGCTGGGATCACAGGCACACACCACCTAAATCTTCAGGATAAAAAGGGCAAAGCAGGTTCTCCTTAGAGCATGGTGGGTTGTCAGGGCCCCATTAGGCTCTTATACACACCATAAAGTTATATAGTAGTGACAGCTAACACGCACACATACGCTGTGAGAAGTACATTATTTTGTTGAATCCTCACAACAACCCTATGAAGTGGTAGATACTAATTTTTTTTTTTTTGAAATGGAGTCTGGCTCTATTCCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCCAGCAGTTCTCCTGTCTCAGCCTCCCAAGCAGCTGGGACTACAGGTGCCCGCCACTGCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA |
Task1_train_24495 | A variant on Chromosome 17 in gene TUBG1 (tubulin gamma 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Complex cortical dysplasia with other brain malformations 4 | TGGGTTCCTACCTCTTAGAACGGCTGAATGACAGGTAAGTTTGTGTTTGGGGATTAGGAAAGGTCTCCAACTTGGCTTCCTAAATGACTAGGGGACCCAGCAGATATAACTCCATATTTGCTGGAACAGGAAAGAGTTCTTATATTCCCTCCTATAGAGAGGAAAATGAAGTTACAATGACTGAGAACCCCATCACACTCCCAGTAGTGGGAACTGGAGCCTAGAACCTGAGCCCTGGATGAAAGTCGAGGGAGTGTGGCCAGGTCTCAATTTGGAAGCCCAGAGTCTAAGATGTCTCTGCCCTTCCCCCTGTAGGGCTACAGACTTCCAAAAGTCAAGGCTCCCTTCTCTACTGATTTGACCCCACCCCAGTTTCGCCATCAAGATTTATCTGCTTCTGGACAGTTGTTAGGGAGCGCCATGTTCACCAGGCCTTCGGTCTGTTGCCCTGATCCTTTCCCCAACCCCCACCAGGTATCCTAAGAAGCTGGTGCAGACATACTCAGTGTTTCCCAACCAGGACGAGATGAGCGATGTGGTGGTCCAGCCTTACAATTCACTCCTCACACTCAAGAGGCTGACGCAGAATGCAGACTGTGTGGTGAGTCCTGGATTCTACCTCTCCCAACTCTCAACACCCCATACCCACTCGAGTCTATTAAATCATTTTCATGTATTTAAAAAAAATCCATTTTAGCCAGGTGCAGTGGCTCATGACTGTAATCCCATCACTTTGGGAGGCCAAGGTCGTTGGATCGTTTGAGTTTAGGAGTTCGAGACCAGCCTGGGCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCGGGAGTGGTGATATGTGCAGAAGGATCACTTGTGCCTCAGAGGCAGGGGCTGCAGTGAGCTGAGATCATGTCACTGACTGCACTCCAGCCGGGGTGACAAAGTGAAACCCTGTCTCAAAAAACAAGAACAAAAAAAAAAACTGTTTAAATAATTAAGATGAAAAGAAAAATTTAAAAATCCATTTTGAGCCCTCCTTTGCCCTAGGTCAGTGCAAATCTCTTTCCAGTGAGTCTTTCTGGCCATGAAGCTCAAAGGAAATTAAGCTTCAGAGCCTAGGGTCAGGCAGAGCTCCTGTTTTTCTTATCCCCATTGATCTGTGATCCTCTTCTGTCCCCCCAGGTGGTGCTGGACAACACAGCCCTGAACCGGATTGCCACAGACCGCCTGCACATCCAGAACCCATCCTTCTCCCAGATCAACCAGCTGGTGGGCCCCCACTCCTGGACTCCTTTGGACTTGAAGCCCTCCTTGTTGGAGGGTCATTTGGGGAAGGGAGGTCCCACCCAGGCTGAGGCCCATAACATGGCACGCCTGTCCCCAGGTGTCTACCATCATGTCAGCCAGCACCACCACCCTGCGCTACCCTGGCTACATGAACAATGACCTCATCGGCCTCATCGCCTCGCTCATTCCCACCCCACGGCTCCACTTCCTCATGACCGGCTACACCCCTCTCACTACGGACCAGTCAGTAAGAGCAGCCTTCAGTGTCCCAGGCCAGGCCGGCCCTGGGCCCAACAGGCCCTGTCCTAGCCTTTCTCTCTTCCCCACTGCCCCAGGAGCTACCCTTTGTGGACCCCAAGGCGCGGCGCTCAGGGACTGGCACAGAGTGGGCGACTTTCTTGCTGACTTGCTCTCCACCCTCCCTCTGCCTTTGGCTTCTGCCAAAGAGAAGCCAAAGGGGGACTGTGCCCTGAGCGCTGGCCGGGTCCCTGTCTCACTGTCCTATCAGGTGGCCAGCGTGAGGAAGACCACGGTCCTGGATGTCATGAGGCGGCTGCTGCAGCCCAAGAACGTGATGGTGTCCACAGGCCGAGACCGCCAGACCAACCACTGCTACATCGCCATCCTCAACATCATCCAGGGAGAGGTGGACCCCACCCAGGTAGGGGAGGCCCCTTCATCCCACACCCTGGACCTGCAGGGGTAGAGGAGAGGCCACCTCCACTGCTCCTATGCCCACCCCAGGTCCACAAGAGCTTGCAGAGGATCCGGGAACGCAAGTTGGCCAACTTCATCCCGTGGGGCCCCGCCAGCATCCAGGTGGCCCTGTCGAGGAAGTCTCCCTACCTGCCCTCGGCCCACCGGGTCAGCGGGCTCATGATGGCCAACCACACCAGCATCTCCTCGGTGAGTCTCAAAGTTTGCACCTTTTTTCCCTGAATCAGTTTCCTGACTATACCTCACCTCTCTGCATCTGCTGGCCCTGCTTCTAGCTTTTTTGCTGTGGGCATAGCCCAGCCTTGGTTCCCCAGCTTTCTGGGCCACGTTATTCTTTGAAGTTCTTTGTAACCCCTGTTTTCTGCACACCCCAAGCTCTTCGAGAGAACCTGTCGCCAGTATGACAAGCTGCGTAAGCGGGAGGCCTTCCTGGAGCAGTTCCGCAAGGAGGACATGTTCAAGGACAACTTTGATGAGATGGACACATCCAGGGAGATTGTGCAGCAGCTCATCGATGAGTACCATGCGGCCACACGGCCAGACTACATCTCCTGGGGCACCCAGGAGCAGTGAGTCCCCCAGGACAGGGACCCTCATCTGCCTTACTGGTTGGCCCAAGCCCTGCCTGACTGACCACCCCCTCAGAGCACAGATCAGGGACCTCACGCATCTCTTTCTCATATACATGGACTCTCTGTTGGCCTGCAAACACATTTACTTCTCCTCTTATGAGACTATTTATCTTTAATAAAGCACTGGATATAAATCAAGTCACTGCTCCCTTTAAAGCCTTTGGGTTCTGGAGATGCGGTGGGGATGCCTGTTCTTTCTCCATCATTCTGACAGGGTCCTCACCCACTTCCAGCATCTTCAATTCTGAACCAACAGCTTCCCCTAGGTTTTTCCTCTGCCTAGTTTTGGAGAACGCTGGTGGGGTTTGACCCACCTGAAATTCCTTTCCAGGGTAAAAAGGCCCAGAGATATTACTTTGTTCTCTGTCTGACCCTTTCTGGGTCCCCGTTCCCTCCCACCCTCACTGTATCAGGTGAATATTCCACCAGCCTCATGTTTCCACATCAGAGTGTCTGATTAATCACAACCTGAGGCCCAAGGCCACCACCACTGCCACTAGGCCATGAACAAGCAATGGAGTCCAACCCAATACCTTTAAGCTTCTAGCAAGCAGTCCAGGAGAGCCGCTCGTTTCAGGCAGTTGGAGTCTAGCAGCATCAAGTCAGCGACCAAATCTAAAACCTAGACTGTAAGCAGGATCATAAGTGGTTCCATAGCTAAGGCACCGTAATTCTCTTCTCTAGTGGTTGCCAGTAATTTAAATGGCCAGTGCCTTCTACTTCTGGTGGAAGATTGCAGGGAGGTAGTAAATACATAGGGGCCTAAGTCTTCAGGATTGTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCGCTTTGTCACCCAGGCTGGAATGCAGTGGCATAATCACGGTTCACTGCAGCCTCGACCTCCCTGGCTCAGGCGATCCTCCTGTCTCAGCCTCTTAAGTAGCTGGGATCACAGGCACACACCACCTAAATCTTCAGGATAAAAAGGGCAAAGCAGGTTCTCCTTAGAGCATGGTGGGTTGTCAGGGCCCCATTAGGCTCTTATACACACCATAAAGTTATATAGTAGTGACAGCTAACACGCACACATACGCTGTGAGAAGTACATTATTTTGTTGAATCCTCACAACAACCCTATGAAGTGGTAGATACTAATTTTTTTTTTTTTGAAATGGAGTCTGGCTCTATTCCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCCAGCAGTTCTCCTGTCTCAGCCTCCCAAGCAGCTGGGACTACAGGTGCCCGCCACTGCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCGGCTGGTAGATACTAATTTTTAAAATACAATAACAAGGCCGGGTGCGGCG | TGGGTTCCTACCTCTTAGAACGGCTGAATGACAGGTAAGTTTGTGTTTGGGGATTAGGAAAGGTCTCCAACTTGGCTTCCTAAATGACTAGGGGACCCAGCAGATATAACTCCATATTTGCTGGAACAGGAAAGAGTTCTTATATTCCCTCCTATAGAGAGGAAAATGAAGTTACAATGACTGAGAACCCCATCACACTCCCAGTAGTGGGAACTGGAGCCTAGAACCTGAGCCCTGGATGAAAGTCGAGGGAGTGTGGCCAGGTCTCAATTTGGAAGCCCAGAGTCTAAGATGTCTCTGCCCTTCCCCCTGTAGGGCTACAGACTTCCAAAAGTCAAGGCTCCCTTCTCTACTGATTTGACCCCACCCCAGTTTCGCCATCAAGATTTATCTGCTTCTGGACAGTTGTTAGGGAGCGCCATGTTCACCAGGCCTTCGGTCTGTTGCCCTGATCCTTTCCCCAACCCCCACCAGGTATCCTAAGAAGCTGGTGCAGACATACTCAGTGTTTCCCAACCAGGACGAGATGAGCGATGTGGTGGTCCAGCCTTACAATTCACTCCTCACACTCAAGAGGCTGACGCAGAATGCAGACTGTGTGGTGAGTCCTGGATTCTACCTCTCCCAACTCTCAACACCCCATACCCACTCGAGTCTATTAAATCATTTTCATGTATTTAAAAAAAATCCATTTTAGCCAGGTGCAGTGGCTCATGACTGTAATCCCATCACTTTGGGAGGCCAAGGTCGTTGGATCGTTTGAGTTTAGGAGTTCGAGACCAGCCTGGGCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCGGGAGTGGTGATATGTGCAGAAGGATCACTTGTGCCTCAGAGGCAGGGGCTGCAGTGAGCTGAGATCATGTCACTGACTGCACTCCAGCCGGGGTGACAAAGTGAAACCCTGTCTCAAAAAACAAGAACAAAAAAAAAAACTGTTTAAATAATTAAGATGAAAAGAAAAATTTAAAAATCCATTTTGAGCCCTCCTTTGCCCTAGGTCAGTGCAAATCTCTTTCCAGTGAGTCTTTCTGGCCATGAAGCTCAAAGGAAATTAAGCTTCAGAGCCTAGGGTCAGGCAGAGCTCCTGTTTTTCTTATCCCCATTGATCTGTGATCCTCTTCTGTCCCCCCAGGTGGTGCTGGACAACACAGCCCTGAACCGGATTGCCACAGACCGCCTGCACATCCAGAACCCATCCTTCTCCCAGATCAACCAGCTGGTGGGCCCCCACTCCTGGACTCCTTTGGACTTGAAGCCCTCCTTGTTGGAGGGTCATTTGGGGAAGGGAGGTCCCACCCAGGCTGAGGCCCATAACATGGCACGCCTGTCCCCAGGTGTCTACCATCATGTCAGCCAGCACCACCACCCTGCGCTACCCTGGCTACATGAACAATGACCTCATCGGCCTCATCGCCTCGCTCATTCCCACCCCACGGCTCCACTTCCTCATGACCGGCTACACCCCTCTCACTACGGACCAGTCAGTAAGAGCAGCCTTCAGTGTCCCAGGCCAGGCCGGCCCTGGGCCCAACAGGCCCTGTCCTAGCCTTTCTCTCTTCCCCACTGCCCCAGGAGCTACCCTTTGTGGACCCCAAGGCGCGGCGCTCAGGGACTGGCACAGAGTGGGCGACTTTCTTGCTGACTTGCTCTCCACCCTCCCTCTGCCTTTGGCTTCTGCCAAAGAGAAGCCAAAGGGGGACTGTGCCCTGAGCGCTGGCCGGGTCCCTGTCTCACTGTCCTATCAGGTGGCCAGCGTGAGGAAGACCACGGTCCTGGATGTCATGAGGCGGCTGCTGCAGCCCAAGAACGTGATGGTGTCCACAGGCCGAGACCGCCAGACCAACCACTGCTACATCGCCATCCTCAACATCATCCAGGGAGAGGTGGACCCCACCCAGGTAGGGGAGGCCCCTTCATCCCACACCCTGGACCTGCAGGGGTAGAGGAGAGGCCACCTCCACTGCTCCTATGCCCACCCCAGGTCCACAAGAGCTTGCAGAGGATCCAGGAACGCAAGTTGGCCAACTTCATCCCGTGGGGCCCCGCCAGCATCCAGGTGGCCCTGTCGAGGAAGTCTCCCTACCTGCCCTCGGCCCACCGGGTCAGCGGGCTCATGATGGCCAACCACACCAGCATCTCCTCGGTGAGTCTCAAAGTTTGCACCTTTTTTCCCTGAATCAGTTTCCTGACTATACCTCACCTCTCTGCATCTGCTGGCCCTGCTTCTAGCTTTTTTGCTGTGGGCATAGCCCAGCCTTGGTTCCCCAGCTTTCTGGGCCACGTTATTCTTTGAAGTTCTTTGTAACCCCTGTTTTCTGCACACCCCAAGCTCTTCGAGAGAACCTGTCGCCAGTATGACAAGCTGCGTAAGCGGGAGGCCTTCCTGGAGCAGTTCCGCAAGGAGGACATGTTCAAGGACAACTTTGATGAGATGGACACATCCAGGGAGATTGTGCAGCAGCTCATCGATGAGTACCATGCGGCCACACGGCCAGACTACATCTCCTGGGGCACCCAGGAGCAGTGAGTCCCCCAGGACAGGGACCCTCATCTGCCTTACTGGTTGGCCCAAGCCCTGCCTGACTGACCACCCCCTCAGAGCACAGATCAGGGACCTCACGCATCTCTTTCTCATATACATGGACTCTCTGTTGGCCTGCAAACACATTTACTTCTCCTCTTATGAGACTATTTATCTTTAATAAAGCACTGGATATAAATCAAGTCACTGCTCCCTTTAAAGCCTTTGGGTTCTGGAGATGCGGTGGGGATGCCTGTTCTTTCTCCATCATTCTGACAGGGTCCTCACCCACTTCCAGCATCTTCAATTCTGAACCAACAGCTTCCCCTAGGTTTTTCCTCTGCCTAGTTTTGGAGAACGCTGGTGGGGTTTGACCCACCTGAAATTCCTTTCCAGGGTAAAAAGGCCCAGAGATATTACTTTGTTCTCTGTCTGACCCTTTCTGGGTCCCCGTTCCCTCCCACCCTCACTGTATCAGGTGAATATTCCACCAGCCTCATGTTTCCACATCAGAGTGTCTGATTAATCACAACCTGAGGCCCAAGGCCACCACCACTGCCACTAGGCCATGAACAAGCAATGGAGTCCAACCCAATACCTTTAAGCTTCTAGCAAGCAGTCCAGGAGAGCCGCTCGTTTCAGGCAGTTGGAGTCTAGCAGCATCAAGTCAGCGACCAAATCTAAAACCTAGACTGTAAGCAGGATCATAAGTGGTTCCATAGCTAAGGCACCGTAATTCTCTTCTCTAGTGGTTGCCAGTAATTTAAATGGCCAGTGCCTTCTACTTCTGGTGGAAGATTGCAGGGAGGTAGTAAATACATAGGGGCCTAAGTCTTCAGGATTGTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCGCTTTGTCACCCAGGCTGGAATGCAGTGGCATAATCACGGTTCACTGCAGCCTCGACCTCCCTGGCTCAGGCGATCCTCCTGTCTCAGCCTCTTAAGTAGCTGGGATCACAGGCACACACCACCTAAATCTTCAGGATAAAAAGGGCAAAGCAGGTTCTCCTTAGAGCATGGTGGGTTGTCAGGGCCCCATTAGGCTCTTATACACACCATAAAGTTATATAGTAGTGACAGCTAACACGCACACATACGCTGTGAGAAGTACATTATTTTGTTGAATCCTCACAACAACCCTATGAAGTGGTAGATACTAATTTTTTTTTTTTTGAAATGGAGTCTGGCTCTATTCCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCCAGCAGTTCTCCTGTCTCAGCCTCCCAAGCAGCTGGGACTACAGGTGCCCGCCACTGCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCGGCTGGTAGATACTAATTTTTAAAATACAATAACAAGGCCGGGTGCGGCG |
Task1_train_24496 | A genetic alteration is present in TUBG1 (tubulin gamma 1) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Complex cortical dysplasia with other brain malformations 4 | CTTCCAAAAGTCAAGGCTCCCTTCTCTACTGATTTGACCCCACCCCAGTTTCGCCATCAAGATTTATCTGCTTCTGGACAGTTGTTAGGGAGCGCCATGTTCACCAGGCCTTCGGTCTGTTGCCCTGATCCTTTCCCCAACCCCCACCAGGTATCCTAAGAAGCTGGTGCAGACATACTCAGTGTTTCCCAACCAGGACGAGATGAGCGATGTGGTGGTCCAGCCTTACAATTCACTCCTCACACTCAAGAGGCTGACGCAGAATGCAGACTGTGTGGTGAGTCCTGGATTCTACCTCTCCCAACTCTCAACACCCCATACCCACTCGAGTCTATTAAATCATTTTCATGTATTTAAAAAAAATCCATTTTAGCCAGGTGCAGTGGCTCATGACTGTAATCCCATCACTTTGGGAGGCCAAGGTCGTTGGATCGTTTGAGTTTAGGAGTTCGAGACCAGCCTGGGCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCGGGAGTGGTGATATGTGCAGAAGGATCACTTGTGCCTCAGAGGCAGGGGCTGCAGTGAGCTGAGATCATGTCACTGACTGCACTCCAGCCGGGGTGACAAAGTGAAACCCTGTCTCAAAAAACAAGAACAAAAAAAAAAACTGTTTAAATAATTAAGATGAAAAGAAAAATTTAAAAATCCATTTTGAGCCCTCCTTTGCCCTAGGTCAGTGCAAATCTCTTTCCAGTGAGTCTTTCTGGCCATGAAGCTCAAAGGAAATTAAGCTTCAGAGCCTAGGGTCAGGCAGAGCTCCTGTTTTTCTTATCCCCATTGATCTGTGATCCTCTTCTGTCCCCCCAGGTGGTGCTGGACAACACAGCCCTGAACCGGATTGCCACAGACCGCCTGCACATCCAGAACCCATCCTTCTCCCAGATCAACCAGCTGGTGGGCCCCCACTCCTGGACTCCTTTGGACTTGAAGCCCTCCTTGTTGGAGGGTCATTTGGGGAAGGGAGGTCCCACCCAGGCTGAGGCCCATAACATGGCACGCCTGTCCCCAGGTGTCTACCATCATGTCAGCCAGCACCACCACCCTGCGCTACCCTGGCTACATGAACAATGACCTCATCGGCCTCATCGCCTCGCTCATTCCCACCCCACGGCTCCACTTCCTCATGACCGGCTACACCCCTCTCACTACGGACCAGTCAGTAAGAGCAGCCTTCAGTGTCCCAGGCCAGGCCGGCCCTGGGCCCAACAGGCCCTGTCCTAGCCTTTCTCTCTTCCCCACTGCCCCAGGAGCTACCCTTTGTGGACCCCAAGGCGCGGCGCTCAGGGACTGGCACAGAGTGGGCGACTTTCTTGCTGACTTGCTCTCCACCCTCCCTCTGCCTTTGGCTTCTGCCAAAGAGAAGCCAAAGGGGGACTGTGCCCTGAGCGCTGGCCGGGTCCCTGTCTCACTGTCCTATCAGGTGGCCAGCGTGAGGAAGACCACGGTCCTGGATGTCATGAGGCGGCTGCTGCAGCCCAAGAACGTGATGGTGTCCACAGGCCGAGACCGCCAGACCAACCACTGCTACATCGCCATCCTCAACATCATCCAGGGAGAGGTGGACCCCACCCAGGTAGGGGAGGCCCCTTCATCCCACACCCTGGACCTGCAGGGGTAGAGGAGAGGCCACCTCCACTGCTCCTATGCCCACCCCAGGTCCACAAGAGCTTGCAGAGGATCCGGGAACGCAAGTTGGCCAACTTCATCCCGTGGGGCCCCGCCAGCATCCAGGTGGCCCTGTCGAGGAAGTCTCCCTACCTGCCCTCGGCCCACCGGGTCAGCGGGCTCATGATGGCCAACCACACCAGCATCTCCTCGGTGAGTCTCAAAGTTTGCACCTTTTTTCCCTGAATCAGTTTCCTGACTATACCTCACCTCTCTGCATCTGCTGGCCCTGCTTCTAGCTTTTTTGCTGTGGGCATAGCCCAGCCTTGGTTCCCCAGCTTTCTGGGCCACGTTATTCTTTGAAGTTCTTTGTAACCCCTGTTTTCTGCACACCCCAAGCTCTTCGAGAGAACCTGTCGCCAGTATGACAAGCTGCGTAAGCGGGAGGCCTTCCTGGAGCAGTTCCGCAAGGAGGACATGTTCAAGGACAACTTTGATGAGATGGACACATCCAGGGAGATTGTGCAGCAGCTCATCGATGAGTACCATGCGGCCACACGGCCAGACTACATCTCCTGGGGCACCCAGGAGCAGTGAGTCCCCCAGGACAGGGACCCTCATCTGCCTTACTGGTTGGCCCAAGCCCTGCCTGACTGACCACCCCCTCAGAGCACAGATCAGGGACCTCACGCATCTCTTTCTCATATACATGGACTCTCTGTTGGCCTGCAAACACATTTACTTCTCCTCTTATGAGACTATTTATCTTTAATAAAGCACTGGATATAAATCAAGTCACTGCTCCCTTTAAAGCCTTTGGGTTCTGGAGATGCGGTGGGGATGCCTGTTCTTTCTCCATCATTCTGACAGGGTCCTCACCCACTTCCAGCATCTTCAATTCTGAACCAACAGCTTCCCCTAGGTTTTTCCTCTGCCTAGTTTTGGAGAACGCTGGTGGGGTTTGACCCACCTGAAATTCCTTTCCAGGGTAAAAAGGCCCAGAGATATTACTTTGTTCTCTGTCTGACCCTTTCTGGGTCCCCGTTCCCTCCCACCCTCACTGTATCAGGTGAATATTCCACCAGCCTCATGTTTCCACATCAGAGTGTCTGATTAATCACAACCTGAGGCCCAAGGCCACCACCACTGCCACTAGGCCATGAACAAGCAATGGAGTCCAACCCAATACCTTTAAGCTTCTAGCAAGCAGTCCAGGAGAGCCGCTCGTTTCAGGCAGTTGGAGTCTAGCAGCATCAAGTCAGCGACCAAATCTAAAACCTAGACTGTAAGCAGGATCATAAGTGGTTCCATAGCTAAGGCACCGTAATTCTCTTCTCTAGTGGTTGCCAGTAATTTAAATGGCCAGTGCCTTCTACTTCTGGTGGAAGATTGCAGGGAGGTAGTAAATACATAGGGGCCTAAGTCTTCAGGATTGTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCGCTTTGTCACCCAGGCTGGAATGCAGTGGCATAATCACGGTTCACTGCAGCCTCGACCTCCCTGGCTCAGGCGATCCTCCTGTCTCAGCCTCTTAAGTAGCTGGGATCACAGGCACACACCACCTAAATCTTCAGGATAAAAAGGGCAAAGCAGGTTCTCCTTAGAGCATGGTGGGTTGTCAGGGCCCCATTAGGCTCTTATACACACCATAAAGTTATATAGTAGTGACAGCTAACACGCACACATACGCTGTGAGAAGTACATTATTTTGTTGAATCCTCACAACAACCCTATGAAGTGGTAGATACTAATTTTTTTTTTTTTGAAATGGAGTCTGGCTCTATTCCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCCAGCAGTTCTCCTGTCTCAGCCTCCCAAGCAGCTGGGACTACAGGTGCCCGCCACTGCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCGGCTGGTAGATACTAATTTTTAAAATACAATAACAAGGCCGGGTGCGGCGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACCTGAGGTTAGGAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGAAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGTGGCAGAGCAAGACTCCGTCTCAAAAAAAGAAATAAAAGTAAAACAATAAGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCA | CTTCCAAAAGTCAAGGCTCCCTTCTCTACTGATTTGACCCCACCCCAGTTTCGCCATCAAGATTTATCTGCTTCTGGACAGTTGTTAGGGAGCGCCATGTTCACCAGGCCTTCGGTCTGTTGCCCTGATCCTTTCCCCAACCCCCACCAGGTATCCTAAGAAGCTGGTGCAGACATACTCAGTGTTTCCCAACCAGGACGAGATGAGCGATGTGGTGGTCCAGCCTTACAATTCACTCCTCACACTCAAGAGGCTGACGCAGAATGCAGACTGTGTGGTGAGTCCTGGATTCTACCTCTCCCAACTCTCAACACCCCATACCCACTCGAGTCTATTAAATCATTTTCATGTATTTAAAAAAAATCCATTTTAGCCAGGTGCAGTGGCTCATGACTGTAATCCCATCACTTTGGGAGGCCAAGGTCGTTGGATCGTTTGAGTTTAGGAGTTCGAGACCAGCCTGGGCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCGGGAGTGGTGATATGTGCAGAAGGATCACTTGTGCCTCAGAGGCAGGGGCTGCAGTGAGCTGAGATCATGTCACTGACTGCACTCCAGCCGGGGTGACAAAGTGAAACCCTGTCTCAAAAAACAAGAACAAAAAAAAAAACTGTTTAAATAATTAAGATGAAAAGAAAAATTTAAAAATCCATTTTGAGCCCTCCTTTGCCCTAGGTCAGTGCAAATCTCTTTCCAGTGAGTCTTTCTGGCCATGAAGCTCAAAGGAAATTAAGCTTCAGAGCCTAGGGTCAGGCAGAGCTCCTGTTTTTCTTATCCCCATTGATCTGTGATCCTCTTCTGTCCCCCCAGGTGGTGCTGGACAACACAGCCCTGAACCGGATTGCCACAGACCGCCTGCACATCCAGAACCCATCCTTCTCCCAGATCAACCAGCTGGTGGGCCCCCACTCCTGGACTCCTTTGGACTTGAAGCCCTCCTTGTTGGAGGGTCATTTGGGGAAGGGAGGTCCCACCCAGGCTGAGGCCCATAACATGGCACGCCTGTCCCCAGGTGTCTACCATCATGTCAGCCAGCACCACCACCCTGCGCTACCCTGGCTACATGAACAATGACCTCATCGGCCTCATCGCCTCGCTCATTCCCACCCCACGGCTCCACTTCCTCATGACCGGCTACACCCCTCTCACTACGGACCAGTCAGTAAGAGCAGCCTTCAGTGTCCCAGGCCAGGCCGGCCCTGGGCCCAACAGGCCCTGTCCTAGCCTTTCTCTCTTCCCCACTGCCCCAGGAGCTACCCTTTGTGGACCCCAAGGCGCGGCGCTCAGGGACTGGCACAGAGTGGGCGACTTTCTTGCTGACTTGCTCTCCACCCTCCCTCTGCCTTTGGCTTCTGCCAAAGAGAAGCCAAAGGGGGACTGTGCCCTGAGCGCTGGCCGGGTCCCTGTCTCACTGTCCTATCAGGTGGCCAGCGTGAGGAAGACCACGGTCCTGGATGTCATGAGGCGGCTGCTGCAGCCCAAGAACGTGATGGTGTCCACAGGCCGAGACCGCCAGACCAACCACTGCTACATCGCCATCCTCAACATCATCCAGGGAGAGGTGGACCCCACCCAGGTAGGGGAGGCCCCTTCATCCCACACCCTGGACCTGCAGGGGTAGAGGAGAGGCCACCTCCACTGCTCCTATGCCCACCCCAGGTCCACAAGAGCTTGCAGAGGATCCGGGAACGCAAGTTGGCCAACTTCATCCCGTGGGGCCCCGCCAGCATCCAGGTGGCCCTGTCGAGGAAGTCTCCCTACCTGCCCTCGGCCCACCGGGTCAGCGGGCTCATGATGGCCAACCACACCAGCATCTCCTCGGTGAGTCTCAAAGTTTGCACCTTTTTTCCCTGAATCAGTTTCCTGACTATACCTCACCTCTCTGCATCTGCTGGCCCTGCTTCTAGCTTTTTTGCTGTGGGCATAGCCCAGCCTTGGTTCCCCAGCTTTCTGGGCCACGTTATTCTTTGAAGTTCTTTGTAACCCCTGTTTTCTGCACACCCCAAGCCCTTCGAGAGAACCTGTCGCCAGTATGACAAGCTGCGTAAGCGGGAGGCCTTCCTGGAGCAGTTCCGCAAGGAGGACATGTTCAAGGACAACTTTGATGAGATGGACACATCCAGGGAGATTGTGCAGCAGCTCATCGATGAGTACCATGCGGCCACACGGCCAGACTACATCTCCTGGGGCACCCAGGAGCAGTGAGTCCCCCAGGACAGGGACCCTCATCTGCCTTACTGGTTGGCCCAAGCCCTGCCTGACTGACCACCCCCTCAGAGCACAGATCAGGGACCTCACGCATCTCTTTCTCATATACATGGACTCTCTGTTGGCCTGCAAACACATTTACTTCTCCTCTTATGAGACTATTTATCTTTAATAAAGCACTGGATATAAATCAAGTCACTGCTCCCTTTAAAGCCTTTGGGTTCTGGAGATGCGGTGGGGATGCCTGTTCTTTCTCCATCATTCTGACAGGGTCCTCACCCACTTCCAGCATCTTCAATTCTGAACCAACAGCTTCCCCTAGGTTTTTCCTCTGCCTAGTTTTGGAGAACGCTGGTGGGGTTTGACCCACCTGAAATTCCTTTCCAGGGTAAAAAGGCCCAGAGATATTACTTTGTTCTCTGTCTGACCCTTTCTGGGTCCCCGTTCCCTCCCACCCTCACTGTATCAGGTGAATATTCCACCAGCCTCATGTTTCCACATCAGAGTGTCTGATTAATCACAACCTGAGGCCCAAGGCCACCACCACTGCCACTAGGCCATGAACAAGCAATGGAGTCCAACCCAATACCTTTAAGCTTCTAGCAAGCAGTCCAGGAGAGCCGCTCGTTTCAGGCAGTTGGAGTCTAGCAGCATCAAGTCAGCGACCAAATCTAAAACCTAGACTGTAAGCAGGATCATAAGTGGTTCCATAGCTAAGGCACCGTAATTCTCTTCTCTAGTGGTTGCCAGTAATTTAAATGGCCAGTGCCTTCTACTTCTGGTGGAAGATTGCAGGGAGGTAGTAAATACATAGGGGCCTAAGTCTTCAGGATTGTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCGCTTTGTCACCCAGGCTGGAATGCAGTGGCATAATCACGGTTCACTGCAGCCTCGACCTCCCTGGCTCAGGCGATCCTCCTGTCTCAGCCTCTTAAGTAGCTGGGATCACAGGCACACACCACCTAAATCTTCAGGATAAAAAGGGCAAAGCAGGTTCTCCTTAGAGCATGGTGGGTTGTCAGGGCCCCATTAGGCTCTTATACACACCATAAAGTTATATAGTAGTGACAGCTAACACGCACACATACGCTGTGAGAAGTACATTATTTTGTTGAATCCTCACAACAACCCTATGAAGTGGTAGATACTAATTTTTTTTTTTTTGAAATGGAGTCTGGCTCTATTCCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCCAGCAGTTCTCCTGTCTCAGCCTCCCAAGCAGCTGGGACTACAGGTGCCCGCCACTGCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCGGCTGGTAGATACTAATTTTTAAAATACAATAACAAGGCCGGGTGCGGCGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACCTGAGGTTAGGAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGAAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGTGGCAGAGCAAGACTCCGTCTCAAAAAAAGAAATAAAAGTAAAACAATAAGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCA |
Task1_train_24497 | This variant affects gene CNTNAP1 (contactin associated protein 1) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Neuropathy, congenital hypomyelinating, 3 | TTTGTGGCTGGGGCTGGGTTTTGTGGCAGGGATCCAAGCAGGAGCTGGTGCCCCTGACTGATGCTAAGGCTGGACATGGAGCTGGTGATGGTGCTAGCACTGGCTGAGGTTGGGTGCAAGGCCTGTATTTGGGGATGGTGCAGGTTTTGGGGGCCGAGTTGGATTGAGGCTAGGGTTGGAGCTGGATTGGTGTCTTGGGTTGACTTAGGTTGTGGAAGATGCTGAGGTTTAGGATTGAGTTTGGGAAAGTACTAAACCAGGGCAGGTATTGGGCTAGCTAGGGAGGGTCTGGCCTTGGGCCTATAGGTGTAGCCTAGGGGTTTGCCTAGAAGGAGAAGGTAGCCTCCTCTGAGCATGCAGCTGTTGCTGCAGCCAGGATTGAATAGATGGCTTTAAGGTAGGGCTGGGTGTGCCTCTGGGGGCGGGGGTTGGGGGCACGGAAGGGGAAGCTTCGGTCGCTAAGTGGGCCGGCCTTTGGAAGGGTCTGGGAGGGGCCAGCGCTGACTAACAGTCGGTTTCCCTACCCTAGACGGCTGCGACGAGGAGCTGGTGGGTCCCCTGTATGCACGCTCCCTGGGCGCCTCCTCCTACTACAGTCTCCTTACTGCGCCGAGATTCGCCAGGCTGCACGGTGAGCTCCGCGGAACATCAGCTGCCAACTGGCAGCGCACCGCGGAAGGGTGGGGGCCTCCGGAGGACTTCGGGGAGAGGGATAGCCGGTTAAAGCTCCTGTCCTTTCTATAGGCATAAGCGGGTGGTCACCACGGATTGGGGATCCGAATCCCTGGCTCCAGATAGACTTAATGAAGAAGCACCGGATCCGGGCCGTGGCCACACAGGGCTCCTTTAATTCTTGGGACTGGGTCACACGTTACATGCTACTCTACGGCGACCGAGTGGACAGCTGGACACCGTTCTACCAGCGAGGGCACAACTCGGTACTCTGGGCGCCAAGGCGGTAACACTTGGGGAGCTTCCTCTGCTCCAGGCTCTGGGCCGGGCACCAGCCTCTGGGAAAATGGAGGGGGTGGTGGTGAGGGCTCGGACAAGGAGCAGTGACTCCACTCCAGGGACTCTGTCCAGAGGGACTGTCAGCTTAGGACGTGCGCGAAACACTCGGTTCACAGGGTTTAACACACTTTAGGGTAAAACCTGGGAGAGCTTCCTAAGGAGGTGACATTTGATTTCAGGTCTGAGGAAATAATAGGATTGTGGGACAGGGCACTTTATGGAAACTGTGCGGGCAAAGCCGCCAAGCAGGGAAGACCAAGGAGTGTTTACTTTCCAGAAGTCGAGATTGGCTGGGTGTGAAAGTTGTGGGCTGGGAGGCTATGGAGAAAGAAGCAGAGGGGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCATGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATGAAAAATACAAAAAAATCAGCCGGGCGTAGTGGCGGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGAAGAGAATTGTTTGAACCCGGGAGGCAGAGGTTGCGGTGAGCCGAGATCGTACCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAATAAAATAAAAAAAAGAAGCAGAGGGCAGGACGTGGTTACTACTCTCCTCCACCCCCGCAGACCTTCTTTGGTAACGTGAACGAGTCGGCGGTGGTGCGCCATGACCTGCACTTCCACTTCACTGCGCGCTACATCCGCATCGTGCCCCTGGCCTGGAACCCACGCGGCAAGATCGGCCTGAGGCTCGGCCTCTATGGCTGCCCATACAGTAAGTGTGCAGAGAGCGCGGAGGGGGCCTGGGAGACAGCCTCCCCAGTTCCCGGCCCACCTACGGTCCTTTGCGCAGAGGCCGACATACTCTATTTCGACGGCGACGATGCCATCTCCTACCGCTTCCCGCGAGGGGTCAGCCGAAGCCTGTGGGACGTGTTCGCCTTCAGCTTCAAGACCGAGGAGAAGGACGGTCTTCTGCTGCACGCCGAGGGCGCCCAGGGCGACTACGTGACGCTCGAGCTGGAGGGGGCACACCTGCTGCTGCACATGAGCCTGGGTGAGCTCGGCGACCATGTGCGATGCGGAGCCAACCCCTGAAGCTCTCTCACCGCCCTCCTCGTGGCACCTCCTCCGCGCATCCGCGCTCAGCCTGGTCTTCCACTTCTCTAAGGCCTGGACCAAACTGCCCCTTTCTTGTAGCATTTGGTGCTAGCAAAACACTGGAGTTGAGTGAGAACTGGATTCCAGTCTCAGCTCTACCACTACACAGAGATGTGACCTCGGATGGGGCACTTCCGAGCCTCAGTTCCCTCCTTGTAAACACACACACACAGACGCACACACATTGTATCTCATTAGCTTTTCATAACACCCGCACATGAAATAGAAGCAGCTCATGTGTTCCCAGTTTTACAGACAGGAAGCCAGGCTAAATGGCTTACCCTGTCACACACTCGCCAATGGCTGTTGATCTATTCGCCCACTCTCCCTGATTGCCCTGGGCTTTGTTACACGCTGCTGCTCTGCCTAGGAGCTTGGACTCCATGGAGTTCTCCTGGCTTGAGGTTTCACTCTGTCCTGCCCCACCCTCAGGCAGCAGCCCTATCCAGCCAAGACCAGGTCACACCACCGTGAGCGCAGGCGGAGTCCTCAATGACCAGCACTGGCACTATGTGCGGGTGGACCGATTTGGCCGCGATGTAAATTTCACCCTGGACGGCTATGTGCAGCGCTTTATTCTCAATGGAGACTTCGAGAGGCTGAACCTGGACACTGAGGTGAGAGACTAGGGAGGTGCTATTTCGTGGTAGGGTAGATGCTGGATGAGTGAGTGCAGGTCGGTCTCTCCCTTTCTCTTTTCCTCTGTCTCTCAGAGGAAAGACCTGGCATTCAGGCTGTGGGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGGCCAGGTGTTCAAGACTCACCTGGGCAACATAGTGACATCCTACCTCTATTTAAAAAAATTTTTTTTTTCAAAGACCTCGCATTCCAATTCCTGAATATCCTAGCAGCCCTTGGCAAACTTGCCACTCACCAGAAAAAGGCCTGTTTTTTTTTTTTTTTTTTTTTTTTGTGGGTGTTGTTGCTGTTAGCATGCAGACTCCCAGGCACTATTTCAGAACTAATGAGATGGGGTTTGGAAATTCAGATTTTGGGGACTAGGCAAGGTAGGAAAATTGTTCCCTTGGATCCTCCCACAACTTTGTGGAGTTGTTAAAGACCCTGACCCCATCTGCAGATAAGAATCCCAGGCAGGCTAATTGACTTGCCCAAGGGCGTGCAGCCGATTTGTGTTGGAGTCAGAGCTTGAACTCAAGCCTTGAAAGGCCTAGCGAGCTTTAGTACCGACACTGGGGAAATGTGTGTTTTAAGTCTTTTACAAAACCCCATCTGGCATTTGGGAAAGCATACGGCGGGGACGCGCGAGAAAGGCAGGCGCCCTCCTGTGCCCAAGAGGCCTCATTCCCCACGCCTCCCGCAGATGTTCATCGGAGGTCTGGTGGGCGCCGCGCGGAAGAACCTGGCCTATCGGCATAACTTCCGCGGCTGCATAGAAAACGTAATCTTCAACCGCGTCAACATCGCAGACCTGGCCGTGCGGCGCCATTCCCGGATCACCTTCGAGGCCAGTGGGCAGGGGGGTCTGGGAGGACAGGATATCAAAGCGTCGTGGAAAGCAAAGAGGTGGAGCGGGAAGAGATATTGAACATCAGATAAAAGCGGAGAATCCCTCTGTCCCCAGCCAGATGCTCAAGTTGGGAGGGGAGCGGGTCTCACCTGAGGTGCATGAGCCACGCAGGCCCCTAGTTAAGAAGCAGTGGTCGGGTCCAATCACCTTCTTAGTTCATAGATGAAGAAAGTAAGGCGCAGACACAGGGAGTGGCTTGTCCAGGGGTCGTGCAGCTGCACGGTGGCTGAGTAGGGACTTGAACCGATGGCTTCTCTGATATGCCCCCCTCAACCCTC | TTTGTGGCTGGGGCTGGGTTTTGTGGCAGGGATCCAAGCAGGAGCTGGTGCCCCTGACTGATGCTAAGGCTGGACATGGAGCTGGTGATGGTGCTAGCACTGGCTGAGGTTGGGTGCAAGGCCTGTATTTGGGGATGGTGCAGGTTTTGGGGGCCGAGTTGGATTGAGGCTAGGGTTGGAGCTGGATTGGTGTCTTGGGTTGACTTAGGTTGTGGAAGATGCTGAGGTTTAGGATTGAGTTTGGGAAAGTACTAAACCAGGGCAGGTATTGGGCTAGCTAGGGAGGGTCTGGCCTTGGGCCTATAGGTGTAGCCTAGGGGTTTGCCTAGAAGGAGAAGGTAGCCTCCTCTGAGCATGCAGCTGTTGCTGCAGCCAGGATTGAATAGATGGCTTTAAGGTAGGGCTGGGTGTGCCTCTGGGGGCGGGGGTTGGGGGCACGGAAGGGGAAGCTTCGGTCGCTAAGTGGGCCGGCCTTTGGAAGGGTCTGGGAGGGGCCAGCGCTGACTAACAGTCGGTTTCCCTACCCTAGACGGCTGCGACGAGGAGCTGGTGGGTCCCCTGTATGCACGCTCCCTGGGCGCCTCCTCCTACTACAGTCTCCTTACTGCGCCGAGATTCGCCAGGCTGCACGGTGAGCTCCGCGGAACATCAGCTGCCAACTGGCAGCGCACCGCGGAAGGGTGGGGGCCTCCGGAGGACTTCGGGGAGAGGGATAGCCGGTTAAAGCTCCTGTCCTTTCTATAGGCATAAGCGGGTGGTCACCACGGATTGGGGATCCGAATCCCTGGCTCCAGATAGACTTAATGAAGAAGCACCGGATCCGGGCCGTGGCCACACAGGGCTCCTTTAATTCTTGGGACTGGGTCACACGTTACATGCTACTCTACGGCGACCGAGTGGACAGCTGGACACCGTTCTACCAGCGAGGGCACAACTCGGTACTCTGGGCGCCAAGGCGGTAACACTTGGGGAGCTTCCTCTGCTCCAGGCTCTGGGCCGGGCACCAGCCTCTGGGAAAATGGAGGGGGTGGTGGTGAGGGCTCGGACAAGGAGCAGTGACTCCACTCCAGGGACTCTGTCCAGAGGGACTGTCAGCTTAGGACGTGCGCGAAACACTCGGTTCACAGGGTTTAACACACTTTAGGGTAAAACCTGGGAGAGCTTCCTAAGGAGGTGACATTTGATTTCAGGTCTGAGGAAATAATAGGATTGTGGGACAGGGCACTTTATGGAAACTGTGCGGGCAAAGCCGCCAAGCAGGGAAGACCAAGGAGTGTTTACTTTCCAGAAGTCGAGATTGGCTGGGTGTGAAAGTTGTGGGCTGGGAGGCTATGGAGAAAGAAGCAGAGGGGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCATGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATGAAAAATACAAAAAAATCAGCCGGGCGTAGTGGCGGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGAAGAGAATTGTTTGAACCCGGGAGGCAGAGGTTGCGGTGAGCCGAGATCGTACCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAATAAAATAAAAAAAAGAAGCAGAGGGCAGGACGTGGTTACTACTCTCCTCCACCCCCGCAGACCTTCTTTGGTAACGTGAACGAGTCGGCGGTGGTGCGCCATGACCTGCACTTCCACTTCACTGCGCGCTACATCCGCATCGTGCCCCTGGCCTGGAACCCACGCGGCAAGATCGGCCTGAGGCTCGGCCTCTATGGCTGCCCATACAGTAAGTGTGCAGAGAGCGCGGAGGGGGCCTGGGAGACAGCCTCCCCAGTTCCCGGCCCACCTACGGTCCTTTGCGCAGAGGCCGACATACTCTATTTCGACGGCGACGATGCCATCTCCTACCGCTTCCCGCGAGGGGTCAGCCGAAGCCTGTGGGACGTGTTCGCCTTCAGCTTCAAGACCGAGGAGAAGGACGGTCTTCCGCTGCACGCCGAGGGCGCCCAGGGCGACTACGTGACGCTCGAGCTGGAGGGGGCACACCTGCTGCTGCACATGAGCCTGGGTGAGCTCGGCGACCATGTGCGATGCGGAGCCAACCCCTGAAGCTCTCTCACCGCCCTCCTCGTGGCACCTCCTCCGCGCATCCGCGCTCAGCCTGGTCTTCCACTTCTCTAAGGCCTGGACCAAACTGCCCCTTTCTTGTAGCATTTGGTGCTAGCAAAACACTGGAGTTGAGTGAGAACTGGATTCCAGTCTCAGCTCTACCACTACACAGAGATGTGACCTCGGATGGGGCACTTCCGAGCCTCAGTTCCCTCCTTGTAAACACACACACACAGACGCACACACATTGTATCTCATTAGCTTTTCATAACACCCGCACATGAAATAGAAGCAGCTCATGTGTTCCCAGTTTTACAGACAGGAAGCCAGGCTAAATGGCTTACCCTGTCACACACTCGCCAATGGCTGTTGATCTATTCGCCCACTCTCCCTGATTGCCCTGGGCTTTGTTACACGCTGCTGCTCTGCCTAGGAGCTTGGACTCCATGGAGTTCTCCTGGCTTGAGGTTTCACTCTGTCCTGCCCCACCCTCAGGCAGCAGCCCTATCCAGCCAAGACCAGGTCACACCACCGTGAGCGCAGGCGGAGTCCTCAATGACCAGCACTGGCACTATGTGCGGGTGGACCGATTTGGCCGCGATGTAAATTTCACCCTGGACGGCTATGTGCAGCGCTTTATTCTCAATGGAGACTTCGAGAGGCTGAACCTGGACACTGAGGTGAGAGACTAGGGAGGTGCTATTTCGTGGTAGGGTAGATGCTGGATGAGTGAGTGCAGGTCGGTCTCTCCCTTTCTCTTTTCCTCTGTCTCTCAGAGGAAAGACCTGGCATTCAGGCTGTGGGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGGCCAGGTGTTCAAGACTCACCTGGGCAACATAGTGACATCCTACCTCTATTTAAAAAAATTTTTTTTTTCAAAGACCTCGCATTCCAATTCCTGAATATCCTAGCAGCCCTTGGCAAACTTGCCACTCACCAGAAAAAGGCCTGTTTTTTTTTTTTTTTTTTTTTTTTGTGGGTGTTGTTGCTGTTAGCATGCAGACTCCCAGGCACTATTTCAGAACTAATGAGATGGGGTTTGGAAATTCAGATTTTGGGGACTAGGCAAGGTAGGAAAATTGTTCCCTTGGATCCTCCCACAACTTTGTGGAGTTGTTAAAGACCCTGACCCCATCTGCAGATAAGAATCCCAGGCAGGCTAATTGACTTGCCCAAGGGCGTGCAGCCGATTTGTGTTGGAGTCAGAGCTTGAACTCAAGCCTTGAAAGGCCTAGCGAGCTTTAGTACCGACACTGGGGAAATGTGTGTTTTAAGTCTTTTACAAAACCCCATCTGGCATTTGGGAAAGCATACGGCGGGGACGCGCGAGAAAGGCAGGCGCCCTCCTGTGCCCAAGAGGCCTCATTCCCCACGCCTCCCGCAGATGTTCATCGGAGGTCTGGTGGGCGCCGCGCGGAAGAACCTGGCCTATCGGCATAACTTCCGCGGCTGCATAGAAAACGTAATCTTCAACCGCGTCAACATCGCAGACCTGGCCGTGCGGCGCCATTCCCGGATCACCTTCGAGGCCAGTGGGCAGGGGGGTCTGGGAGGACAGGATATCAAAGCGTCGTGGAAAGCAAAGAGGTGGAGCGGGAAGAGATATTGAACATCAGATAAAAGCGGAGAATCCCTCTGTCCCCAGCCAGATGCTCAAGTTGGGAGGGGAGCGGGTCTCACCTGAGGTGCATGAGCCACGCAGGCCCCTAGTTAAGAAGCAGTGGTCGGGTCCAATCACCTTCTTAGTTCATAGATGAAGAAAGTAAGGCGCAGACACAGGGAGTGGCTTGTCCAGGGGTCGTGCAGCTGCACGGTGGCTGAGTAGGGACTTGAACCGATGGCTTCTCTGATATGCCCCCCTCAACCCTC |
Task1_train_24498 | Gene CNTNAP1 (contactin associated protein 1) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Neuropathy, congenital hypomyelinating, 3 | TCTCAAAAAATAAAATAAAAAAAAGAAGCAGAGGGCAGGACGTGGTTACTACTCTCCTCCACCCCCGCAGACCTTCTTTGGTAACGTGAACGAGTCGGCGGTGGTGCGCCATGACCTGCACTTCCACTTCACTGCGCGCTACATCCGCATCGTGCCCCTGGCCTGGAACCCACGCGGCAAGATCGGCCTGAGGCTCGGCCTCTATGGCTGCCCATACAGTAAGTGTGCAGAGAGCGCGGAGGGGGCCTGGGAGACAGCCTCCCCAGTTCCCGGCCCACCTACGGTCCTTTGCGCAGAGGCCGACATACTCTATTTCGACGGCGACGATGCCATCTCCTACCGCTTCCCGCGAGGGGTCAGCCGAAGCCTGTGGGACGTGTTCGCCTTCAGCTTCAAGACCGAGGAGAAGGACGGTCTTCTGCTGCACGCCGAGGGCGCCCAGGGCGACTACGTGACGCTCGAGCTGGAGGGGGCACACCTGCTGCTGCACATGAGCCTGGGTGAGCTCGGCGACCATGTGCGATGCGGAGCCAACCCCTGAAGCTCTCTCACCGCCCTCCTCGTGGCACCTCCTCCGCGCATCCGCGCTCAGCCTGGTCTTCCACTTCTCTAAGGCCTGGACCAAACTGCCCCTTTCTTGTAGCATTTGGTGCTAGCAAAACACTGGAGTTGAGTGAGAACTGGATTCCAGTCTCAGCTCTACCACTACACAGAGATGTGACCTCGGATGGGGCACTTCCGAGCCTCAGTTCCCTCCTTGTAAACACACACACACAGACGCACACACATTGTATCTCATTAGCTTTTCATAACACCCGCACATGAAATAGAAGCAGCTCATGTGTTCCCAGTTTTACAGACAGGAAGCCAGGCTAAATGGCTTACCCTGTCACACACTCGCCAATGGCTGTTGATCTATTCGCCCACTCTCCCTGATTGCCCTGGGCTTTGTTACACGCTGCTGCTCTGCCTAGGAGCTTGGACTCCATGGAGTTCTCCTGGCTTGAGGTTTCACTCTGTCCTGCCCCACCCTCAGGCAGCAGCCCTATCCAGCCAAGACCAGGTCACACCACCGTGAGCGCAGGCGGAGTCCTCAATGACCAGCACTGGCACTATGTGCGGGTGGACCGATTTGGCCGCGATGTAAATTTCACCCTGGACGGCTATGTGCAGCGCTTTATTCTCAATGGAGACTTCGAGAGGCTGAACCTGGACACTGAGGTGAGAGACTAGGGAGGTGCTATTTCGTGGTAGGGTAGATGCTGGATGAGTGAGTGCAGGTCGGTCTCTCCCTTTCTCTTTTCCTCTGTCTCTCAGAGGAAAGACCTGGCATTCAGGCTGTGGGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGGCCAGGTGTTCAAGACTCACCTGGGCAACATAGTGACATCCTACCTCTATTTAAAAAAATTTTTTTTTTCAAAGACCTCGCATTCCAATTCCTGAATATCCTAGCAGCCCTTGGCAAACTTGCCACTCACCAGAAAAAGGCCTGTTTTTTTTTTTTTTTTTTTTTTTTGTGGGTGTTGTTGCTGTTAGCATGCAGACTCCCAGGCACTATTTCAGAACTAATGAGATGGGGTTTGGAAATTCAGATTTTGGGGACTAGGCAAGGTAGGAAAATTGTTCCCTTGGATCCTCCCACAACTTTGTGGAGTTGTTAAAGACCCTGACCCCATCTGCAGATAAGAATCCCAGGCAGGCTAATTGACTTGCCCAAGGGCGTGCAGCCGATTTGTGTTGGAGTCAGAGCTTGAACTCAAGCCTTGAAAGGCCTAGCGAGCTTTAGTACCGACACTGGGGAAATGTGTGTTTTAAGTCTTTTACAAAACCCCATCTGGCATTTGGGAAAGCATACGGCGGGGACGCGCGAGAAAGGCAGGCGCCCTCCTGTGCCCAAGAGGCCTCATTCCCCACGCCTCCCGCAGATGTTCATCGGAGGTCTGGTGGGCGCCGCGCGGAAGAACCTGGCCTATCGGCATAACTTCCGCGGCTGCATAGAAAACGTAATCTTCAACCGCGTCAACATCGCAGACCTGGCCGTGCGGCGCCATTCCCGGATCACCTTCGAGGCCAGTGGGCAGGGGGGTCTGGGAGGACAGGATATCAAAGCGTCGTGGAAAGCAAAGAGGTGGAGCGGGAAGAGATATTGAACATCAGATAAAAGCGGAGAATCCCTCTGTCCCCAGCCAGATGCTCAAGTTGGGAGGGGAGCGGGTCTCACCTGAGGTGCATGAGCCACGCAGGCCCCTAGTTAAGAAGCAGTGGTCGGGTCCAATCACCTTCTTAGTTCATAGATGAAGAAAGTAAGGCGCAGACACAGGGAGTGGCTTGTCCAGGGGTCGTGCAGCTGCACGGTGGCTGAGTAGGGACTTGAACCGATGGCTTCTCTGATATGCCCCCCTCAACCCTCTCCGACTCTGGAGCTCTGTTGGGAAGCTGGCAGGAGCCAGGTCTGTGGTCCAAAATTGCCTCTCGATACTGGAAGGAGAGAAGCGGTCGAATCGCAGACGGTGGAGATCAGCGAGAGCAAGCGAGCAGAGTTCCGAGGGCCGACTGGGTTGGGGCCCCCTCCACAGATGGACGAGCTTGGAGGGGAAGAGGTCACGTCATGGTTGGAGATCTCACCCCCGCCAACACCGAAGGAGGGCGGTGACCAGGGTCTTAGACCGGTGTGAAAACTGAATTCCCAGCTGAGGCAGAGGCGGCTCACGGGTGTTGATGCGTCTTCACTTTTGCCCCTAGGGTAAGGTGGCTTTTCGTTGCCTGGACCCGGTACCGCACCCTATCAACTTCGGAGGCCCTCACAACTTCGTTCAAGTGCCCGGTTTCCCACGCCGTGGCCGCCTGGCAGTCTCATTTCGCTTCCGCACCTGGGACCTCACCGGGCTTCTCCTTTTCTCCCGTCTGGGGGACGGGCTGGGCCACGTGGAGCTGACGCTCAGCGAAGGGCAGGTCAACGTGTCCATCGCGCAGAGCGGCCGAAAGAAGCTTCAGTTCGCTGCTGGTGAGGGCGTTTCGGGGGAGGCACAAGAAGAGAAGAGAAGTGTAGAGGATCCCAGGAAAGTTGTAGGCCTGGACTGAGGCCTTTACATTCTGGAGAGGGGAGAGGAGTGAAGGGGGCAGGGCAGGAGGCCCCAGGGTACTGGGAAAAGGTGGGAGTGGCTAGAGGCAGTGAGGAGGCGAATCTGAGGGACTAAGTATTCTTGGAGAAGGGGGAAGCCTGGGAGTCCTGGTATTCTCCAGTTCCAGAAGGCCCCTGGAGATTTGGTTACTCGTTTATAACTGTGCAGACTCTGTGGCAGTTGCTGGGTCATGGATAATGAAGAGACATTCAGAGAGGTCTCCACTGGGTGTGAGAAGTGTAATCACGGGGGCACACAGGCTGCTACTGGGACACAGTGGGGCTGCTGCTTCCCCACTCAGAACATTCTTCTACCCTAGTTGCTGCTTCCCTCCACCCACACCATCATCCATTCTTGTCCAGGGTACCGACTGAATGACGGCTTTTGGCACGAGGTGAATTTTGTGGCACAGGAAAACCATGCAGTTATCAGCATTGATGATGTGGAAGGGGCAGAGGTCAGGGTCTCATACCCGTTGCTGATCCGGACAGGGACCTCATATTTCTTTGGGGGTAAGTGGGGGCCAACCTGACCAGACCTCTGTTTCTGGGTGGGAAGGCTCCATCTAAGTCCACCCAGATGGGGCCACATGGAGAATTTTGGAGGGATCAAGCCCTCTTCCCCTCTGGGGCCTCAGGGAGTGGAAGGTCATTGCCATCTACACTTTGGTTGTAGTCCCCTTTCTTCCTTTATGTCTGGCTCCCCCTCAGCATGTCCCTGGGGGAGGGTCTTTGGGGTCTCCCCTGGGGAGGATCTCACAGGGGTGGTTGCTCCAGGTTGTCCCAAGCCAGCCAGTCGATGGGACTGCCACTCCAACCAGACGGCATTCCATGGCTGCATGGAGCTGCTCAAGGTGGATGGTCAACTGGTCAACCTGACTCTGGTGGAGGGCCGGCGGCTTGGATTCTATGCTGAGG | TCTCAAAAAATAAAATAAAAAAAAGAAGCAGAGGGCAGGACGTGGTTACTACTCTCCTCCACCCCCGCAGACCTTCTTTGGTAACGTGAACGAGTCGGCGGTGGTGCGCCATGACCTGCACTTCCACTTCACTGCGCGCTACATCCGCATCGTGCCCCTGGCCTGGAACCCACGCGGCAAGATCGGCCTGAGGCTCGGCCTCTATGGCTGCCCATACAGTAAGTGTGCAGAGAGCGCGGAGGGGGCCTGGGAGACAGCCTCCCCAGTTCCCGGCCCACCTACGGTCCTTTGCGCAGAGGCCGACATACTCTATTTCGACGGCGACGATGCCATCTCCTACCGCTTCCCGCGAGGGGTCAGCCGAAGCCTGTGGGACGTGTTCGCCTTCAGCTTCAAGACCGAGGAGAAGGACGGTCTTCTGCTGCACGCCGAGGGCGCCCAGGGCGACTACGTGACGCTCGAGCTGGAGGGGGCACACCTGCTGCTGCACATGAGCCTGGGTGAGCTCGGCGACCATGTGCGATGCGGAGCCAACCCCTGAAGCTCTCTCACCGCCCTCCTCGTGGCACCTCCTCCGCGCATCCGCGCTCAGCCTGGTCTTCCACTTCTCTAAGGCCTGGACCAAACTGCCCCTTTCTTGTAGCATTTGGTGCTAGCAAAACACTGGAGTTGAGTGAGAACTGGATTCCAGTCTCAGCTCTACCACTACACAGAGATGTGACCTCGGATGGGGCACTTCCGAGCCTCAGTTCCCTCCTTGTAAACACACACACACAGACGCACACACATTGTATCTCATTAGCTTTTCATAACACCCGCACATGAAATAGAAGCAGCTCATGTGTTCCCAGTTTTACAGACAGGAAGCCAGGCTAAATGGCTTACCCTGTCACACACTCGCCAATGGCTGTTGATCTATTCGCCCACTCTCCCTGATTGCCCTGGGCTTTGTTACACGCTGCTGCTCTGCCTAGGAGCTTGGACTCCATGGAGTTCTCCTGGCTTGAGGTTTCACTCTGTCCTGCCCCACCCTCAGGCAGCAGCCCTATCCAGCCAAGACCAGGTCACACCACCGTGAGCGCAGGCGGAGTCCTCAATGACCAGCACTGGCACTATGTGCGGGTGGACCGATTTGGCCGCGATGTAAATTTCACCCTGGACGGCTATGTGCAGCGCTTTATTCTCAATGGAGACTTCGAGAGGCTGAACCTGGACACTGAGGTGAGAGACTAGGGAGGTGCTATTTCGTGGTAGGGTAGATGCTGGATGAGTGAGTGCAGGTCGGTCTCTCCCTTTCTCTTTTCCTCTGTCTCTCAGAGGAAAGACCTGGCATTCAGGCTGTGGGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGGCCAGGTGTTCAAGACTCACCTGGGCAACATAGTGACATCCTACCTCTATTTAAAAAAATTTTTTTTTTCAAAGACCTCGCATTCCAATTCCTGAATATCCTAGCAGCCCTTGGCAAACTTGCCACTCACCAGAAAAAGGCCTGTTTTTTTTTTTTTTTTTTTTTTTTGTGGGTGTTGTTGCTGTTAGCATGCAGACTCCCAGGCACTATTTCAGAACTAATGAGATGGGGTTTGGAAATTCAGATTTTGGGGACTAGGCAAGGTAGGAAAATTGTTCCCTTGGATCCTCCCACAACTTTGTGGAGTTGTTAAAGACCCTGACCCCATCTGCAGATAAGAATCCCAGGCAGGCTAATTGACTTGCCCAAGGGCGTGCAGCCGATTTGTGTTGGAGTCAGAGCTTGAACTCAAGCCTTGAAAGGCCTAGCGAGCTTTAGTACCGACACTGGGGAAATGTGTGTTTTAAGTCTTTTACAAAACCCCATCTGGCATTTGGGAAAGCATACGGCGGGGACGCGCGAGAAAGGCAGGCGCCCTCCTGTGCCCAAGAGGCCTCATTCCCCACGCCTCCCGCAGATGTTCATCGGAGGTCTGGTGGGCGCCGCGCGGAAGAACCTGGCCTATCGGCATAACTTCCGCGGCCGCATAGAAAACGTAATCTTCAACCGCGTCAACATCGCAGACCTGGCCGTGCGGCGCCATTCCCGGATCACCTTCGAGGCCAGTGGGCAGGGGGGTCTGGGAGGACAGGATATCAAAGCGTCGTGGAAAGCAAAGAGGTGGAGCGGGAAGAGATATTGAACATCAGATAAAAGCGGAGAATCCCTCTGTCCCCAGCCAGATGCTCAAGTTGGGAGGGGAGCGGGTCTCACCTGAGGTGCATGAGCCACGCAGGCCCCTAGTTAAGAAGCAGTGGTCGGGTCCAATCACCTTCTTAGTTCATAGATGAAGAAAGTAAGGCGCAGACACAGGGAGTGGCTTGTCCAGGGGTCGTGCAGCTGCACGGTGGCTGAGTAGGGACTTGAACCGATGGCTTCTCTGATATGCCCCCCTCAACCCTCTCCGACTCTGGAGCTCTGTTGGGAAGCTGGCAGGAGCCAGGTCTGTGGTCCAAAATTGCCTCTCGATACTGGAAGGAGAGAAGCGGTCGAATCGCAGACGGTGGAGATCAGCGAGAGCAAGCGAGCAGAGTTCCGAGGGCCGACTGGGTTGGGGCCCCCTCCACAGATGGACGAGCTTGGAGGGGAAGAGGTCACGTCATGGTTGGAGATCTCACCCCCGCCAACACCGAAGGAGGGCGGTGACCAGGGTCTTAGACCGGTGTGAAAACTGAATTCCCAGCTGAGGCAGAGGCGGCTCACGGGTGTTGATGCGTCTTCACTTTTGCCCCTAGGGTAAGGTGGCTTTTCGTTGCCTGGACCCGGTACCGCACCCTATCAACTTCGGAGGCCCTCACAACTTCGTTCAAGTGCCCGGTTTCCCACGCCGTGGCCGCCTGGCAGTCTCATTTCGCTTCCGCACCTGGGACCTCACCGGGCTTCTCCTTTTCTCCCGTCTGGGGGACGGGCTGGGCCACGTGGAGCTGACGCTCAGCGAAGGGCAGGTCAACGTGTCCATCGCGCAGAGCGGCCGAAAGAAGCTTCAGTTCGCTGCTGGTGAGGGCGTTTCGGGGGAGGCACAAGAAGAGAAGAGAAGTGTAGAGGATCCCAGGAAAGTTGTAGGCCTGGACTGAGGCCTTTACATTCTGGAGAGGGGAGAGGAGTGAAGGGGGCAGGGCAGGAGGCCCCAGGGTACTGGGAAAAGGTGGGAGTGGCTAGAGGCAGTGAGGAGGCGAATCTGAGGGACTAAGTATTCTTGGAGAAGGGGGAAGCCTGGGAGTCCTGGTATTCTCCAGTTCCAGAAGGCCCCTGGAGATTTGGTTACTCGTTTATAACTGTGCAGACTCTGTGGCAGTTGCTGGGTCATGGATAATGAAGAGACATTCAGAGAGGTCTCCACTGGGTGTGAGAAGTGTAATCACGGGGGCACACAGGCTGCTACTGGGACACAGTGGGGCTGCTGCTTCCCCACTCAGAACATTCTTCTACCCTAGTTGCTGCTTCCCTCCACCCACACCATCATCCATTCTTGTCCAGGGTACCGACTGAATGACGGCTTTTGGCACGAGGTGAATTTTGTGGCACAGGAAAACCATGCAGTTATCAGCATTGATGATGTGGAAGGGGCAGAGGTCAGGGTCTCATACCCGTTGCTGATCCGGACAGGGACCTCATATTTCTTTGGGGGTAAGTGGGGGCCAACCTGACCAGACCTCTGTTTCTGGGTGGGAAGGCTCCATCTAAGTCCACCCAGATGGGGCCACATGGAGAATTTTGGAGGGATCAAGCCCTCTTCCCCTCTGGGGCCTCAGGGAGTGGAAGGTCATTGCCATCTACACTTTGGTTGTAGTCCCCTTTCTTCCTTTATGTCTGGCTCCCCCTCAGCATGTCCCTGGGGGAGGGTCTTTGGGGTCTCCCCTGGGGAGGATCTCACAGGGGTGGTTGCTCCAGGTTGTCCCAAGCCAGCCAGTCGATGGGACTGCCACTCCAACCAGACGGCATTCCATGGCTGCATGGAGCTGCTCAAGGTGGATGGTCAACTGGTCAACCTGACTCTGGTGGAGGGCCGGCGGCTTGGATTCTATGCTGAGG |
Task1_train_24499 | Assess the clinical impact of this variant on gene CNTNAP1 (contactin associated protein 1), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | ATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGGGTGATGCACCACCCCGGCCTCCCAAAGTGCTGGGATTACAGGCCCGAGCCGCCGCACCTGGCCAGCCCTCTAACTCTCTAACTGCCTTTGTCTCAACCTATTATCTGCCAGCTTTGTATAAGGAATCCTGTGAGGCTTATCGGCTCAGTGGGAAAACTTCTGGAAACTTCACCATTGATCCTGATGGCAGTGGCCCCCTGAAGCCATTTGTAGTGTACTGTGATATCCGAGGTAAGTGTCTCTGTTGGGTGGTGAGGGGGTGAGGGGAGAACCAGGAAGGATAGAGTGGTGGGTGGGGGCCAGTTAGACTAAACAAGTGAGGGTAAAGGAGGACAGAGGGGAAGGGCATACTGAGGAATTTGTAACCTAGCCTTAAAAGTAAATCCCAAGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATAGCGCCATTGGACTCCAGCCTGGGCAACAGAGCGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAGTATATCCCAGCTTCCTTACCCATTCCAGCTATCTTATTTCCAGCCTACAATGCAGAGTGCCCAGGGCAGAGGTGGAATGGAGCTGCTGGCCACGTTCAGTGGCTCTGAGTTGCAGCAGCGGTGGTGGAGGTGGGCAGGGAGATGGGTAGAGAATGCCCAACTCCAGCCAAAGCTCTGTCCCCTCTTGTCTGCCAGAGAACCGAGCGTGGACAGTTGTGCGGCATGACAGGCTGTGGACAACTCGAGTGACAGGTTCCAGCATGGAGCGGCCATTCCTGGGGGCTATCCAGTACTGGAATGCATCCTGGGAGGAAGTCAGTGCCCTTGCCAATGCTTCCCAGCATTGTGAACAGTGGATCGAGTTCTCCTGCTACAATTCCCGGCTGCTCAACACTGCAGGTTAGGGCTGGGGTCAGGGAGGTGGCGGAACTGGAGGAGACACCAATGGGGGCCTGGGAGAAGGAAGCCAGAGAGCCAGCTGGGGCCTTGGGTTGGAAGATTCAAGGAGGGGTCTGAACTCGCTGGAAGGGCGAGAGGAGCCCAGAGGCTAATGGAGGGACAGGGCCTGGAAGCTGCCTGCACCTCTTCCCCAGGAGGCTACCCCTACAGCTTTTGGATTGGCCGAAATGAGGAGCAGCACTTCTACTGGGGAGGCTCCCAGCCTGGGATCCAGCGCTGTGCCTGTGGTCTGGACCGGAGCTGTGTGGACCCTGCCTTGTACTGCAACTGTGACGCTGACCAGCCCCAGTGGTGAGGGGGCAAAGGGACAGGGTTTTTAGGACTCCGGGAGTGGGAGGAGCTGAGTGGCTGGGGCTGAGCCATGACATCCTGCCCCCACAGGAGAACTGACAAGGGACTGCTGACCTTTGTGGACCATCTGCCTGTCACTCAGGTAGTGATAGGGGATACGAACCGCTCCACTTCTGAGGCCCAGTTCTTCCTGAGGCCTCTGCGCTGCTATGGCGATCGTGAGTGGCAGTCCCCTTTTGTGTGCCCTCCCAGAGCTGACTCTCCAGTTTCCAAAATCTAGGCCGCATGTCACTGGTGGTCTCTAGCTGGGGTGCCCGACCCCCAGCTCCTGCTGTGATGCGATCTCATTACCCCTCTGCACCTGGCTCCTCTTTCATTCCACTCCTTAGTCTCCCCTCCGTCACCTCAAACCCTCCCCCTTTGCCCAACCTTCCCTGCCCCCAACCCCAGGTTCTCTTCCTCCTCCACCCTCCAATCTCCCTGACAAGACCTTCCTCCATCTGCTTTTCTAGGAAATTCCTGGAACACCATTTCCTTCCACACCGGGGCTGCACTACGCTTCCCCCCAATCCGTGCCAACCACAGCCTGGATGTCTCCTTCTACTTCAGGACCTCTGCTCCCTCGGGGGTCTTCCTAGAGAATATGGGGGGCCCTTACTGCCAGTGGCGCCGACCTTATGTGCGGGTGGAACTCAACAGTGAGCAGGCAGACTGTGGGAGGGCCTCGGGGTAGATGAAAGTGCTGTCTGGGGAGACAGGGGTAGGCTGGGGTTGGAGCCAAGGGCAGATGCCCTTTTGACAGGCAGCATGGGAAGGGTTGAGATACCCTATGTTCTAGCCCTCACTCGGTCTTGACGGCTGGCTGGGTGACCCTAGGCATTCACTTGGCCTCTCTTGGCCTTAAGCCCCTTCCTTGTGCCATAAGGAAGCTGGACCTTCGAGTCCCTCTCACCGCTGATTAGCCATGCTTCTAGCCTGGGAAGTGAGGCTGGGAAGCTGGCTTCAGGGATCTGTGATGTGGGGAGAGACAAAGGGTATGAGGTTTTTAAGCAGCTGGTAAGTTTCAATGCAAGCTACAGACAAATTGGAGGGATATTCAAGAAGCTCCAAAGAGGTGAGGGAAAGAGGTTATATTGGGCAAGGATCTATGAAGGGTCTTGTAGGTCTGAGTCCTTTTCTCCCCTACCCTGCATCACACTGTCCAGCATCCCGGGATGTGGTCTTCGCCTTTGATGTGGGGAATGGGGATGAGAACCTCACAGTACACTCAGACGACTTTGAGTTCAATGATGACGAGTGGCACCTGGTCCGGGCTGAAATCAACGTGAAGCAGGCCCGGCTCCGAGTGGATCACCGGCCCTGGGTTCTGCGGCCTATGCCACTGCAGACCTACATCTGGATGGAGTATGACCAGCCCCTCTATGTGGGTAAGCAGCAACCCAGAGGCAAGTCTGAAGCCTCCTTTACCTCCCCATCCTCCAAGGCCACTCGCCTTGTTTCCAGGAGCCTCCTGTCTTAGGTGCCAGTCCCCTCTGCTTCAGAGCAAGCCAGTGTCTCACTTGTCCCTCCAGGCCTTTGTATCCTATTCTATTCTTCCAGCCCTCTTGGCTCCCTTTCCAACTACAATACTTCATCCTGTCTCTGGCTCTGCCTCCATTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCCCACTGCAAGCTCCGCCTCCTGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGTGCCCAGCTAATTTTTTTTGTATTTTTTAGTAGAGACGGGGTTTCATCATGTTAGCCAGGATGGTCTCGATCTCCTGAGCTCGTGATTCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCCTGCCTCCATTTCTTGACCTGTTGCCTACCCTTCCCAGGATCTGCAGAGCTTAAGAGACGCCCCTTTGTGGGTTGCTTGAGGGCCATGCGTCTGAACGGAGTGACTCTGAACCTGGAGGGCCGTGCCAATGCCTCTGAGGGTACCTCACCCAACTGCACAGGCCACTGTGCCCACCCTCGGCTCCCCTGTTTCCATGGAGGCCGCTGCGTGGAGCGCTATAGCTACTACACGTGTGACTGTGACCTCACGGCTTTTGATGGGCCATACTGCAACCACGGTAAGTGCTGCTGGTTATGGGGCAACAGGGAGCCATAGGGTGTAATGGGATGTAGGGAGGGCAGGGAAGGAAATAGCATGTAAAGCCCATATCATGGAAAATTAGAGTTGTCCCTGGATTCCTGAGCTCTGAGTTTGGGGAGTTAGGCAGTTGAAGATCATGGGTGACTCCAAAGGCATGGACAAGGAAGGGATGGTACAGATAGCTGGTGCAAAAATATCTCAAAATCACCAAGTATGCTTTGGGAGCCCAAGGTGGGAGGATTGCTTGAGGCTAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACAAAAAAAATTCTTTTTTTTTTTATGAGATGGAATCTCGCTCTGTCACCCAGGCTAGAGTACAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTGGTTCAAGCGATTCTTTTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGATGTGCACCACCATGCCTGG | ATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGGGTGATGCACCACCCCGGCCTCCCAAAGTGCTGGGATTACAGGCCCGAGCCGCCGCACCTGGCCAGCCCTCTAACTCTCTAACTGCCTTTGTCTCAACCTATTATCTGCCAGCTTTGTATAAGGAATCCTGTGAGGCTTATCGGCTCAGTGGGAAAACTTCTGGAAACTTCACCATTGATCCTGATGGCAGTGGCCCCCTGAAGCCATTTGTAGTGTACTGTGATATCCGAGGTAAGTGTCTCTGTTGGGTGGTGAGGGGGTGAGGGGAGAACCAGGAAGGATAGAGTGGTGGGTGGGGGCCAGTTAGACTAAACAAGTGAGGGTAAAGGAGGACAGAGGGGAAGGGCATACTGAGGAATTTGTAACCTAGCCTTAAAAGTAAATCCCAAGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATAGCGCCATTGGACTCCAGCCTGGGCAACAGAGCGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAGTATATCCCAGCTTCCTTACCCATTCCAGCTATCTTATTTCCAGCCTACAATGCAGAGTGCCCAGGGCAGAGGTGGAATGGAGCTGCTGGCCACGTTCAGTGGCTCTGAGTTGCAGCAGCGGTGGTGGAGGTGGGCAGGGAGATGGGTAGAGAATGCCCAACTCCAGCCAAAGCTCTGTCCCCTCTTGTCTGCCAGAGAACCGAGCGTGGACAGTTGTGCGGCATGACAGGCTGTGGACAACTCGAGTGACAGGTTCCAGCATGGAGCGGCCATTCCTGGGGGCTATCCAGTACTGGAATGCATCCTGGGAGGAAGTCAGTGCCCTTGCCAATGCTTCCCAGCATTGTGAACAGTGGATCGAGTTCTCCTGCTACAATTCCCGGCTGCTCAACACTGCAGGTTAGGGCTGGGGTCAGGGAGGTGGCGGAACTGGAGGAGACACCAATGGGGGCCTGGGAGAAGGAAGCCAGAGAGCCAGCTGGGGCCTTGGGTTGGAAGATTCAAGGAGGGGTCTGAACTCGCTGGAAGGGCGAGAGGAGCCCAGAGGCTAATGGAGGGACAGGGCCTGGAAGCTGCCTGCACCTCTTCCCCAGGAGGCTACCCCTACAGCTTTTGGATTGGCCGAAATGAGGAGCAGCACTTCTACTGGGGAGGCTCCCAGCCTGGGATCCAGCGCTGTGCCTGTGGTCTGGACCGGAGCTGTGTGGACCCTGCCTTGTACTGCAACTGTGACGCTGACCAGCCCCAGTGGTGAGGGGGCAAAGGGACAGGGTTTTTAGGACTCCGGGAGTGGGAGGAGCTGAGTGGCTGGGGCTGAGCCATGACATCCTGCCCCCACAGGAGAACTGACAAGGGACTGCTGACCTTTGTGGACCATCTGCCTGTCACTCAGGTAGTGATAGGGGATACGAACCGCTCCACTTCTGAGGCCCAGTTCTTCCTGAGGCCTCTGCGCTGCTATGGCGATCGTGAGTGGCAGTCCCCTTTTGTGTGCCCTCCCAGAGCTGACTCTCCAGTTTCCAAAATCTAGGCCGCATGTCACTGGTGGTCTCTAGCTGGGGTGCCCGACCCCCAGCTCCTGCTGTGATGCGATCTCATTACCCCTCTGCACCTGGCTCCTCTTTCATTCCACTCCTTAGTCTCCCCTCCGTCACCTCAAACCCTCCCCCTTTGCCCAACCTTCCCTGCCCCCAACCCCAGGTTCTCTTCCTCCTCCACCCTCCAATCTCCCTGACAAGACCTTCCTCCATCTGCTTTTCTAGGAAATTCCTGGAACACCATTTCCTTCCACACCGGGGCTGCACTACGCTTCCCCCCAATCCGTGCCAACCACAGCCTGGATGTCTCCTTCTACTTCAGGACCTCTGCTCCCTCGGGGGTCTTCCTAGAGAATATGGGGGGCCCTTACTGCCAGTGGCGCCGACCTTATGTGTGGGTGGAACTCAACAGTGAGCAGGCAGACTGTGGGAGGGCCTCGGGGTAGATGAAAGTGCTGTCTGGGGAGACAGGGGTAGGCTGGGGTTGGAGCCAAGGGCAGATGCCCTTTTGACAGGCAGCATGGGAAGGGTTGAGATACCCTATGTTCTAGCCCTCACTCGGTCTTGACGGCTGGCTGGGTGACCCTAGGCATTCACTTGGCCTCTCTTGGCCTTAAGCCCCTTCCTTGTGCCATAAGGAAGCTGGACCTTCGAGTCCCTCTCACCGCTGATTAGCCATGCTTCTAGCCTGGGAAGTGAGGCTGGGAAGCTGGCTTCAGGGATCTGTGATGTGGGGAGAGACAAAGGGTATGAGGTTTTTAAGCAGCTGGTAAGTTTCAATGCAAGCTACAGACAAATTGGAGGGATATTCAAGAAGCTCCAAAGAGGTGAGGGAAAGAGGTTATATTGGGCAAGGATCTATGAAGGGTCTTGTAGGTCTGAGTCCTTTTCTCCCCTACCCTGCATCACACTGTCCAGCATCCCGGGATGTGGTCTTCGCCTTTGATGTGGGGAATGGGGATGAGAACCTCACAGTACACTCAGACGACTTTGAGTTCAATGATGACGAGTGGCACCTGGTCCGGGCTGAAATCAACGTGAAGCAGGCCCGGCTCCGAGTGGATCACCGGCCCTGGGTTCTGCGGCCTATGCCACTGCAGACCTACATCTGGATGGAGTATGACCAGCCCCTCTATGTGGGTAAGCAGCAACCCAGAGGCAAGTCTGAAGCCTCCTTTACCTCCCCATCCTCCAAGGCCACTCGCCTTGTTTCCAGGAGCCTCCTGTCTTAGGTGCCAGTCCCCTCTGCTTCAGAGCAAGCCAGTGTCTCACTTGTCCCTCCAGGCCTTTGTATCCTATTCTATTCTTCCAGCCCTCTTGGCTCCCTTTCCAACTACAATACTTCATCCTGTCTCTGGCTCTGCCTCCATTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCCCACTGCAAGCTCCGCCTCCTGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGTGCCCAGCTAATTTTTTTTGTATTTTTTAGTAGAGACGGGGTTTCATCATGTTAGCCAGGATGGTCTCGATCTCCTGAGCTCGTGATTCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCCTGCCTCCATTTCTTGACCTGTTGCCTACCCTTCCCAGGATCTGCAGAGCTTAAGAGACGCCCCTTTGTGGGTTGCTTGAGGGCCATGCGTCTGAACGGAGTGACTCTGAACCTGGAGGGCCGTGCCAATGCCTCTGAGGGTACCTCACCCAACTGCACAGGCCACTGTGCCCACCCTCGGCTCCCCTGTTTCCATGGAGGCCGCTGCGTGGAGCGCTATAGCTACTACACGTGTGACTGTGACCTCACGGCTTTTGATGGGCCATACTGCAACCACGGTAAGTGCTGCTGGTTATGGGGCAACAGGGAGCCATAGGGTGTAATGGGATGTAGGGAGGGCAGGGAAGGAAATAGCATGTAAAGCCCATATCATGGAAAATTAGAGTTGTCCCTGGATTCCTGAGCTCTGAGTTTGGGGAGTTAGGCAGTTGAAGATCATGGGTGACTCCAAAGGCATGGACAAGGAAGGGATGGTACAGATAGCTGGTGCAAAAATATCTCAAAATCACCAAGTATGCTTTGGGAGCCCAAGGTGGGAGGATTGCTTGAGGCTAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACAAAAAAAATTCTTTTTTTTTTTATGAGATGGAATCTCGCTCTGTCACCCAGGCTAGAGTACAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTGGTTCAAGCGATTCTTTTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGATGTGCACCACCATGCCTGG |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.