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_23800 | This variant impacts the gene MYH3 (myosin heavy chain 3) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Freeman-Sheldon syndrome | GGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGG | GGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACACACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGG 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Task1_train_23801 | This variant lies on Chromosome 17 and affects the gene MYH3 (myosin heavy chain 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Freeman-Sheldon syndrome | GAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAATGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAATGATTCTCCTGCCTCAGCCTCCAGAGTGGCTGGAACTACAGGCGCACGCCACCACACCCATCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTTGCGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGGCACCATGCCCAGCCGCGGCTATGCACGGTCTAACACAGAACCAGTGGGATATTTATAGAAAATAGTGCGTGATTAACTTATCAAATTCTCTGTATCTATTTGATGGCAGTCCCTAAATCAGTGATTGCATTTAATTTTTTTTCTTTTATCCATTTGAAAATGTCCTTTAAAATTCCACTTGATAGACATCTTCTCCTCTTTTAAAATAATACAAACCCAGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAACACTTTCGGAGGCCGAGGCGGATGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACACGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGCAGGAGGTTCACTTGAACTCAGGAAGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCATTCTGGCCTGAGTGACAGGGTGAAACTCAGTCTCAAAAAAAAAAAACAAACAAAAAACCCTAATACAAACCCTTCCAATAAGTACCGCTCCTCTATTCCATCCACTCTCCATCTAGTTTCTTACAGGAAACTAAGACAGCCGCCATCTTGCTATCTTCCCTTTAGGATCATGAAACCAATTTCCCTCATATGAAGCCATATGAAAATATGAATATAAGTAACACAAACCTCAAAGATTTCAAAGCCTGCAATGTCCAAAACACCAATGAAGTGTTGTCTTGGAAGCTTCGTATCCAGTTGCTGGTTAATGCGAGTGACCATCCACAAGAACAACTTTTCATAAACTGATTTTGAAAGAGCATTCACAGCATGGTGAACCTATCAGGGGAAAGATCAGCTACTGGATATGAAGGAAGTGGCCAGCAGGGTCCTGCACCCTTTCCCGGCCTTGAAGCTGTTACCTGATCCACAGTTTGACCTTT 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GAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCAGAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAATGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAATGATTCTCCTGCCTCAGCCTCCAGAGTGGCTGGAACTACAGGCGCACGCCACCACACCCATCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTTGCGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGGCACCATGCCCAGCCGCGGCTATGCACGGTCTAACACAGAACCAGTGGGATATTTATAGAAAATAGTGCGTGATTAACTTATCAAATTCTCTGTATCTATTTGATGGCAGTCCCTAAATCAGTGATTGCATTTAATTTTTTTTCTTTTATCCATTTGAAAATGTCCTTTAAAATTCCACTTGATAGACATCTTCTCCTCTTTTAAAATAATACAAACCCAGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAACACTTTCGGAGGCCGAGGCGGATGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACACGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGCAGGAGGTTCACTTGAACTCAGGAAGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCATTCTGGCCTGAGTGACAGGGTGAAACTCAGTCTCAAAAAAAAAAAACAAACAAAAAACCCTAATACAAACCCTTCCAATAAGTACCGCTCCTCTATTCCATCCACTCTCCATCTAGTTTCTTACAGGAAACTAAGACAGCCGCCATCTTGCTATCTTCCCTTTAGGATCATGAAACCAATTTCCCTCATATGAAGCCATATGAAAATATGAATATAAGTAACACAAACCTCAAAGATTTCAAAGCCTGCAATGTCCAAAACACCAATGAAGTGTTGTCTTGGAAGCTTCGTATCCAGTTGCTGGTTAATGCGAGTGACCATCCACAAGAACAACTTTTCATAAACTGATTTTGAAAGAGCATTCACAGCATGGTGAACCTATCAGGGGAAAGATCAGCTACTGGATATGAAGGAAGTGGCCAGCAGGGTCCTGCACCCTTTCCCGGCCTTGAAGCTGTTACCTGATCCACAGTTTGACCTTT 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Task1_train_23802 | Here is a variant affecting MYH3 (myosin heavy chain 3) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Arthrogryposis, distal, type 2B3 | GAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAATGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAATGATTCTCCTGCCTCAGCCTCCAGAGTGGCTGGAACTACAGGCGCACGCCACCACACCCATCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTTGCGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGGCACCATGCCCAGCCGCGGCTATGCACGGTCTAACACAGAACCAGTGGGATATTTATAGAAAATAGTGCGTGATTAACTTATCAAATTCTCTGTATCTATTTGATGGCAGTCCCTAAATCAGTGATTGCATTTAATTTTTTTTCTTTTATCCATTTGAAAATGTCCTTTAAAATTCCACTTGATAGACATCTTCTCCTCTTTTAAAATAATACAAACCCAGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAACACTTTCGGAGGCCGAGGCGGATGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACACGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGCAGGAGGTTCACTTGAACTCAGGAAGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCATTCTGGCCTGAGTGACAGGGTGAAACTCAGTCTCAAAAAAAAAAAACAAACAAAAAACCCTAATACAAACCCTTCCAATAAGTACCGCTCCTCTATTCCATCCACTCTCCATCTAGTTTCTTACAGGAAACTAAGACAGCCGCCATCTTGCTATCTTCCCTTTAGGATCATGAAACCAATTTCCCTCATATGAAGCCATATGAAAATATGAATATAAGTAACACAAACCTCAAAGATTTCAAAGCCTGCAATGTCCAAAACACCAATGAAGTGTTGTCTTGGAAGCTTCGTATCCAGTTGCTGGTTAATGCGAGTGACCATCCACAAGAACAACTTTTCATAAACTGATTTTGAAAGAGCATTCACAGCATGGTGAACCTATCAGGGGAAAGATCAGCTACTGGATATGAAGGAAGTGGCCAGCAGGGTCCTGCACCCTTTCCCGGCCTTGAAGCTGTTACCTGATCCACAGTTTGACCTTT | GAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCAGAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAATGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAATGATTCTCCTGCCTCAGCCTCCAGAGTGGCTGGAACTACAGGCGCACGCCACCACACCCATCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTTGCGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGGCACCATGCCCAGCCGCGGCTATGCACGGTCTAACACAGAACCAGTGGGATATTTATAGAAAATAGTGCGTGATTAACTTATCAAATTCTCTGTATCTATTTGATGGCAGTCCCTAAATCAGTGATTGCATTTAATTTTTTTTCTTTTATCCATTTGAAAATGTCCTTTAAAATTCCACTTGATAGACATCTTCTCCTCTTTTAAAATAATACAAACCCAGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAACACTTTCGGAGGCCGAGGCGGATGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACACGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGCAGGAGGTTCACTTGAACTCAGGAAGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCATTCTGGCCTGAGTGACAGGGTGAAACTCAGTCTCAAAAAAAAAAAACAAACAAAAAACCCTAATACAAACCCTTCCAATAAGTACCGCTCCTCTATTCCATCCACTCTCCATCTAGTTTCTTACAGGAAACTAAGACAGCCGCCATCTTGCTATCTTCCCTTTAGGATCATGAAACCAATTTCCCTCATATGAAGCCATATGAAAATATGAATATAAGTAACACAAACCTCAAAGATTTCAAAGCCTGCAATGTCCAAAACACCAATGAAGTGTTGTCTTGGAAGCTTCGTATCCAGTTGCTGGTTAATGCGAGTGACCATCCACAAGAACAACTTTTCATAAACTGATTTTGAAAGAGCATTCACAGCATGGTGAACCTATCAGGGGAAAGATCAGCTACTGGATATGAAGGAAGTGGCCAGCAGGGTCCTGCACCCTTTCCCGGCCTTGAAGCTGTTACCTGATCCACAGTTTGACCTTT |
Task1_train_23803 | Here is a variant affecting MYH3 (myosin heavy chain 3) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Freeman-Sheldon syndrome | GAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAATGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAATGATTCTCCTGCCTCAGCCTCCAGAGTGGCTGGAACTACAGGCGCACGCCACCACACCCATCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTTGCGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGGCACCATGCCCAGCCGCGGCTATGCACGGTCTAACACAGAACCAGTGGGATATTTATAGAAAATAGTGCGTGATTAACTTATCAAATTCTCTGTATCTATTTGATGGCAGTCCCTAAATCAGTGATTGCATTTAATTTTTTTTCTTTTATCCATTTGAAAATGTCCTTTAAAATTCCACTTGATAGACATCTTCTCCTCTTTTAAAATAATACAAACCCAGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAACACTTTCGGAGGCCGAGGCGGATGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACACGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGCAGGAGGTTCACTTGAACTCAGGAAGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCATTCTGGCCTGAGTGACAGGGTGAAACTCAGTCTCAAAAAAAAAAAACAAACAAAAAACCCTAATACAAACCCTTCCAATAAGTACCGCTCCTCTATTCCATCCACTCTCCATCTAGTTTCTTACAGGAAACTAAGACAGCCGCCATCTTGCTATCTTCCCTTTAGGATCATGAAACCAATTTCCCTCATATGAAGCCATATGAAAATATGAATATAAGTAACACAAACCTCAAAGATTTCAAAGCCTGCAATGTCCAAAACACCAATGAAGTGTTGTCTTGGAAGCTTCGTATCCAGTTGCTGGTTAATGCGAGTGACCATCCACAAGAACAACTTTTCATAAACTGATTTTGAAAGAGCATTCACAGCATGGTGAACCTATCAGGGGAAAGATCAGCTACTGGATATGAAGGAAGTGGCCAGCAGGGTCCTGCACCCTTTCCCGGCCTTGAAGCTGTTACCTGATCCACAGTTTGACCTTT | GAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCAGAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAATGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAATGATTCTCCTGCCTCAGCCTCCAGAGTGGCTGGAACTACAGGCGCACGCCACCACACCCATCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTTGCGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGGCACCATGCCCAGCCGCGGCTATGCACGGTCTAACACAGAACCAGTGGGATATTTATAGAAAATAGTGCGTGATTAACTTATCAAATTCTCTGTATCTATTTGATGGCAGTCCCTAAATCAGTGATTGCATTTAATTTTTTTTCTTTTATCCATTTGAAAATGTCCTTTAAAATTCCACTTGATAGACATCTTCTCCTCTTTTAAAATAATACAAACCCAGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAACACTTTCGGAGGCCGAGGCGGATGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACACGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGCAGGAGGTTCACTTGAACTCAGGAAGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCATTCTGGCCTGAGTGACAGGGTGAAACTCAGTCTCAAAAAAAAAAAACAAACAAAAAACCCTAATACAAACCCTTCCAATAAGTACCGCTCCTCTATTCCATCCACTCTCCATCTAGTTTCTTACAGGAAACTAAGACAGCCGCCATCTTGCTATCTTCCCTTTAGGATCATGAAACCAATTTCCCTCATATGAAGCCATATGAAAATATGAATATAAGTAACACAAACCTCAAAGATTTCAAAGCCTGCAATGTCCAAAACACCAATGAAGTGTTGTCTTGGAAGCTTCGTATCCAGTTGCTGGTTAATGCGAGTGACCATCCACAAGAACAACTTTTCATAAACTGATTTTGAAAGAGCATTCACAGCATGGTGAACCTATCAGGGGAAAGATCAGCTACTGGATATGAAGGAAGTGGCCAGCAGGGTCCTGCACCCTTTCCCGGCCTTGAAGCTGTTACCTGATCCACAGTTTGACCTTT |
Task1_train_23804 | Assess the clinical impact of this variant on gene MYH3 (myosin heavy chain 3), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | GAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAATGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAATGATTCTCCTGCCTCAGCCTCCAGAGTGGCTGGAACTACAGGCGCACGCCACCACACCCATCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTTGCGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGGCACCATGCCCAGCCGCGGCTATGCACGGTCTAACACAGAACCAGTGGGATATTTATAGAAAATAGTGCGTGATTAACTTATCAAATTCTCTGTATCTATTTGATGGCAGTCCCTAAATCAGTGATTGCATTTAATTTTTTTTCTTTTATCCATTTGAAAATGTCCTTTAAAATTCCACTTGATAGACATCTTCTCCTCTTTTAAAATAATACAAACCCAGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAACACTTTCGGAGGCCGAGGCGGATGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACACGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGCAGGAGGTTCACTTGAACTCAGGAAGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCATTCTGGCCTGAGTGACAGGGTGAAACTCAGTCTCAAAAAAAAAAAACAAACAAAAAACCCTAATACAAACCCTTCCAATAAGTACCGCTCCTCTATTCCATCCACTCTCCATCTAGTTTCTTACAGGAAACTAAGACAGCCGCCATCTTGCTATCTTCCCTTTAGGATCATGAAACCAATTTCCCTCATATGAAGCCATATGAAAATATGAATATAAGTAACACAAACCTCAAAGATTTCAAAGCCTGCAATGTCCAAAACACCAATGAAGTGTTGTCTTGGAAGCTTCGTATCCAGTTGCTGGTTAATGCGAGTGACCATCCACAAGAACAACTTTTCATAAACTGATTTTGAAAGAGCATTCACAGCATGGTGAACCTATCAGGGGAAAGATCAGCTACTGGATATGAAGGAAGTGGCCAGCAGGGTCCTGCACCCTTTCCCGGCCTTGAAGCTGTTACCTGATCCACAGTTTGACCTTT | GAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCAGAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAATGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAATGATTCTCCTGCCTCAGCCTCCAGAGTGGCTGGAACTACAGGCGCACGCCACCACACCCATCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTTGCGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGGCACCATGCCCAGCCGCGGCTATGCACGGTCTAACACAGAACCAGTGGGATATTTATAGAAAATAGTGCGTGATTAACTTATCAAATTCTCTGTATCTATTTGATGGCAGTCCCTAAATCAGTGATTGCATTTAATTTTTTTTCTTTTATCCATTTGAAAATGTCCTTTAAAATTCCACTTGATAGACATCTTCTCCTCTTTTAAAATAATACAAACCCAGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAACACTTTCGGAGGCCGAGGCGGATGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACACGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGCAGGAGGTTCACTTGAACTCAGGAAGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCATTCTGGCCTGAGTGACAGGGTGAAACTCAGTCTCAAAAAAAAAAAACAAACAAAAAACCCTAATACAAACCCTTCCAATAAGTACCGCTCCTCTATTCCATCCACTCTCCATCTAGTTTCTTACAGGAAACTAAGACAGCCGCCATCTTGCTATCTTCCCTTTAGGATCATGAAACCAATTTCCCTCATATGAAGCCATATGAAAATATGAATATAAGTAACACAAACCTCAAAGATTTCAAAGCCTGCAATGTCCAAAACACCAATGAAGTGTTGTCTTGGAAGCTTCGTATCCAGTTGCTGGTTAATGCGAGTGACCATCCACAAGAACAACTTTTCATAAACTGATTTTGAAAGAGCATTCACAGCATGGTGAACCTATCAGGGGAAAGATCAGCTACTGGATATGAAGGAAGTGGCCAGCAGGGTCCTGCACCCTTTCCCGGCCTTGAAGCTGTTACCTGATCCACAGTTTGACCTTT 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Task1_train_23805 | Given this variant in gene MYH3 (myosin heavy chain 3) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Contractures, pterygia, and variable skeletal fusions syndrome 1B | GAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAATGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAATGATTCTCCTGCCTCAGCCTCCAGAGTGGCTGGAACTACAGGCGCACGCCACCACACCCATCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTTGCGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGGCACCATGCCCAGCCGCGGCTATGCACGGTCTAACACAGAACCAGTGGGATATTTATAGAAAATAGTGCGTGATTAACTTATCAAATTCTCTGTATCTATTTGATGGCAGTCCCTAAATCAGTGATTGCATTTAATTTTTTTTCTTTTATCCATTTGAAAATGTCCTTTAAAATTCCACTTGATAGACATCTTCTCCTCTTTTAAAATAATACAAACCCAGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAACACTTTCGGAGGCCGAGGCGGATGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACACGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGCAGGAGGTTCACTTGAACTCAGGAAGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCATTCTGGCCTGAGTGACAGGGTGAAACTCAGTCTCAAAAAAAAAAAACAAACAAAAAACCCTAATACAAACCCTTCCAATAAGTACCGCTCCTCTATTCCATCCACTCTCCATCTAGTTTCTTACAGGAAACTAAGACAGCCGCCATCTTGCTATCTTCCCTTTAGGATCATGAAACCAATTTCCCTCATATGAAGCCATATGAAAATATGAATATAAGTAACACAAACCTCAAAGATTTCAAAGCCTGCAATGTCCAAAACACCAATGAAGTGTTGTCTTGGAAGCTTCGTATCCAGTTGCTGGTTAATGCGAGTGACCATCCACAAGAACAACTTTTCATAAACTGATTTTGAAAGAGCATTCACAGCATGGTGAACCTATCAGGGGAAAGATCAGCTACTGGATATGAAGGAAGTGGCCAGCAGGGTCCTGCACCCTTTCCCGGCCTTGAAGCTGTTACCTGATCCACAGTTTGACCTTT | GAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCAGAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAATGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAATGATTCTCCTGCCTCAGCCTCCAGAGTGGCTGGAACTACAGGCGCACGCCACCACACCCATCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTTGCGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGGCACCATGCCCAGCCGCGGCTATGCACGGTCTAACACAGAACCAGTGGGATATTTATAGAAAATAGTGCGTGATTAACTTATCAAATTCTCTGTATCTATTTGATGGCAGTCCCTAAATCAGTGATTGCATTTAATTTTTTTTCTTTTATCCATTTGAAAATGTCCTTTAAAATTCCACTTGATAGACATCTTCTCCTCTTTTAAAATAATACAAACCCAGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAACACTTTCGGAGGCCGAGGCGGATGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACACGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGCAGGAGGTTCACTTGAACTCAGGAAGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCATTCTGGCCTGAGTGACAGGGTGAAACTCAGTCTCAAAAAAAAAAAACAAACAAAAAACCCTAATACAAACCCTTCCAATAAGTACCGCTCCTCTATTCCATCCACTCTCCATCTAGTTTCTTACAGGAAACTAAGACAGCCGCCATCTTGCTATCTTCCCTTTAGGATCATGAAACCAATTTCCCTCATATGAAGCCATATGAAAATATGAATATAAGTAACACAAACCTCAAAGATTTCAAAGCCTGCAATGTCCAAAACACCAATGAAGTGTTGTCTTGGAAGCTTCGTATCCAGTTGCTGGTTAATGCGAGTGACCATCCACAAGAACAACTTTTCATAAACTGATTTTGAAAGAGCATTCACAGCATGGTGAACCTATCAGGGGAAAGATCAGCTACTGGATATGAAGGAAGTGGCCAGCAGGGTCCTGCACCCTTTCCCGGCCTTGAAGCTGTTACCTGATCCACAGTTTGACCTTT 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Task1_train_23806 | A genetic alteration is present in MYH3 (myosin heavy chain 3) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Arthrogryposis, distal, type 2B3 | GCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAATGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAATGATTCTCCTGCCTCAGCCTCCAGAGTGGCTGGAACTACAGGCGCACGCCACCACACCCATCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTTGCGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGGCACCATGCCCAGCCGCGGCTATGCACGGTCTAACACAGAACCAGTGGGATATTTATAGAAAATAGTGCGTGATTAACTTATCAAATTCTCTGTATCTATTTGATGGCAGTCCCTAAATCAGTGATTGCATTTAATTTTTTTTCTTTTATCCATTTGAAAATGTCCTTTAAAATTCCACTTGATAGACATCTTCTCCTCTTTTAAAATAATACAAACCCAGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAACACTTTCGGAGGCCGAGGCGGATGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACACGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGCAGGAGGTTCACTTGAACTCAGGAAGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCATTCTGGCCTGAGTGACAGGGTGAAACTCAGTCTCAAAAAAAAAAAACAAACAAAAAACCCTAATACAAACCCTTCCAATAAGTACCGCTCCTCTATTCCATCCACTCTCCATCTAGTTTCTTACAGGAAACTAAGACAGCCGCCATCTTGCTATCTTCCCTTTAGGATCATGAAACCAATTTCCCTCATATGAAGCCATATGAAAATATGAATATAAGTAACACAAACCTCAAAGATTTCAAAGCCTGCAATGTCCAAAACACCAATGAAGTGTTGTCTTGGAAGCTTCGTATCCAGTTGCTGGTTAATGCGAGTGACCATCCACAAGAACAACTTTTCATAAACTGATTTTGAAAGAGCATTCACAGCATGGTGAACCTATCAGGGGAAAGATCAGCTACTGGATATGAAGGAAGTGGCCAGCAGGGTCCTGCACCCTTTCCCGGCCTTGAAGCTGTTACCTGATCCACAGTTTGACCTTTGGTAACGTACTCATTCCCAACTTTCACTCTAGGAAAGCACAAAGCTTTTAGGAGGTCCGAAGAGTTCAGGCCCATCAGATAGGCTGTTTTGTCAGCCACTGGCAAGAAAACAAGGACAGTGCTTAGAAAAGTAGAAGAGCTGCTTTGAAAATCATCCAGAAGTTTCAAAGGTTGGTTAAGTTCATCTTGGTACATTGTGCATTCCCTGTGGCTAAACTGCATATACATGGCCAATGGAAGCTAAGTCACTCAGAGAATATAATGGACTTTATGAAAAGCCAGGGCTGGGTCTCAGAAAGCCCTGGTCATCCCTCACTGCATCTGAAACAAGACTATTCGAGTGATTCAGGAAAAGCGAGTGGTAACAATAGCTATGGGCATCGGAGGCCCAGAAAGGGTCATTCACTTCTCCAGATGGAAGGATTAATCGCTTCCATCCATTTTTTTTTTTTTGAGACAGTCTTACTGTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGTGCACTGCAACCTCTGCCTCCTGGGTTCAAGAAACTCTCATGCCGGCAGGGCACAGTGGCTCACACCCGTAATCACAGCACTTTGGGATGCCAAGGCAGGCGAATCATTTGAGGTCAGGAGTTTGAGCCTGGCCAACATGGTGAAACCCCGTTTCTACTAAAAATACAAAAAAGTTAGCCAGGCGCGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGCAGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCTAGCCTGGATGACAGAGCAAAACTCTGTCTGACTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCTCCACCATGCCCAGCTAATTTTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGGCCCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCTGGATTAATTGCTTTCAAAAGCAGTACCAAGTGACCTCAGCAGATCAGCCACCCGCTCTGGTTTGCTGTCACACTGATTTTGTACCTTCTGTGCCATCCGGCTCGGCCTGCTCCTCTCGCTGCTTCTGCTTGAACTTCATGTTCCCGTAGTGCATCACGGCTCCCGTCAGCTTGTAGAGCCCAGATTTCTCTTCTGGGGTGAAGCCCAGGATGTCAATGGCGCTCTGGCATGGAAAGGGCAGCACGTCAGTCAGTTGGCCCCAGTGATGGAGGAGGAACACCCACCCCTTCTGTTGGTTCCACTTACGTCTGTAGCCAGCAGCTCCTCTGCATCATCTATGCTGGCCACCAGGATCTCCCCCTGGCTAATGAACGGGTAGTCGTAAGGGTTGGTCGTAATAAGCAGCAGCTCTGAAATGACAAATAGTTCCAGGAGGTTATGCAGATGCAAAGAAAAAACCCACCCAGTGGACTTGAGCTCCTGCACCCTGGGCTGGAACTTTTACCGCTGGATCCTAAATTGAACTTAGAATTAAAAATCTTTTAGACAGTTCCACAATACTCAGGCTGTCATGGAAAATATAGTCCAGGGAAGACTTTTCAGTCTCCCACACAATGGAGATGAAGGACCCTAGAGAGAACCTTTAAATTCCCTTGCCTTGCACGCTAATGGTGCATATCAGTGTCGGCTGGGAGAAGTTAATAGGGAAAACTGGCTGAGTGCGGGTCAGGACGAGAGCCAACCCAGGTGGTTTGGTATAATCATAGCCTTTTCTAAAATCTGTTGAAAAGCAGCAGCCTGTTTCCAAGCTGGAGACCAGAAGGCTGAGCAAATACAGCCAAAGAGCAAAGAAGCAGTGTGCATGGAGACCTCTGTGAGGGGCAGACAAGGGGCAGTGTGCAGTGCCTCCGTGGGCTTGATTATTCTGTTTGCTTTGGCGTCGCATTTGGCCATAGGTTGTTTCTGTGCCAGAACACAAGGGGGCGCCAAAGGACAGTTAGGTGTTCAGTTGCTCAGAAGGTTTTTATAAACCAGAGCTGGTCAGGAGTGGTCTAATCTTGTTGCCCTCCATTTGATTAGGTTTTCAAATTGGCATGTCACTGCCCAGA | GCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAATGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAATGATTCTCCTGCCTCAGCCTCCAGAGTGGCTGGAACTACAGGCGCACGCCACCACACCCATCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTTGCGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGGCACCATGCCCAGCCGCGGCTATGCACGGTCTAACACAGAACCAGTGGGATATTTATAGAAAATAGTGCGTGATTAACTTATCAAATTCTCTGTATCTATTTGATGGCAGTCCCTAAATCAGTGATTGCATTTAATTTTTTTTCTTTTATCCATTTGAAAATGTCCTTTAAAATTCCACTTGATAGACATCTTCTCCTCTTTTAAAATAATACAAACCCAGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAACACTTTCGGAGGCCGAGGCGGATGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACACGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGCAGGAGGTTCACTTGAACTCAGGAAGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCATTCTGGCCTGAGTGACAGGGTGAAACTCAGTCTCAAAAAAAAAAAACAAACAAAAAACCCTAATACAAACCCTTCCAATAAGTACCGCTCCTCTATTCCATCCACTCTCCATCTAGTTTCTTACAGGAAACTAAGACAGCCGCCATCTTGCTATCTTCCCTTTAGGATCATGAAACCAATTTCCCTCATATGAAGCCATATGAAAATATGAATATAAGTAACACAAACCTCAAAGATTTCAAAGCCTGCAATGTCCAAAACACCAATGAAGTGTTGTCTTGGAAGCTTCGTATCCAGTTGCTGGTTAATGCGAGTGACCATCCACAAGAACAACTTTTCATAAACTGATTTTGAAAGAGCATTCACAGCATGGTGAACCTATCAGGGGAAAGATCAGCTACTGGATATGAAGGAAGTGGCCAGCAGGGTCCTGCACCCTTTCCCGGCCTTGAAGCTGTTACCTGATCCACAGTTTGACCTTTGGTAACGTACTCATTCCCAACTTTCACTCTAGGAAAGCACAAAGCTTTTAGGAGGTCCGAAGAGTTCAGGCCCATCAGACAGGCTGTTTTGTCAGCCACTGGCAAGAAAACAAGGACAGTGCTTAGAAAAGTAGAAGAGCTGCTTTGAAAATCATCCAGAAGTTTCAAAGGTTGGTTAAGTTCATCTTGGTACATTGTGCATTCCCTGTGGCTAAACTGCATATACATGGCCAATGGAAGCTAAGTCACTCAGAGAATATAATGGACTTTATGAAAAGCCAGGGCTGGGTCTCAGAAAGCCCTGGTCATCCCTCACTGCATCTGAAACAAGACTATTCGAGTGATTCAGGAAAAGCGAGTGGTAACAATAGCTATGGGCATCGGAGGCCCAGAAAGGGTCATTCACTTCTCCAGATGGAAGGATTAATCGCTTCCATCCATTTTTTTTTTTTTGAGACAGTCTTACTGTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGTGCACTGCAACCTCTGCCTCCTGGGTTCAAGAAACTCTCATGCCGGCAGGGCACAGTGGCTCACACCCGTAATCACAGCACTTTGGGATGCCAAGGCAGGCGAATCATTTGAGGTCAGGAGTTTGAGCCTGGCCAACATGGTGAAACCCCGTTTCTACTAAAAATACAAAAAAGTTAGCCAGGCGCGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGCAGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCTAGCCTGGATGACAGAGCAAAACTCTGTCTGACTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCTCCACCATGCCCAGCTAATTTTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGGCCCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCTGGATTAATTGCTTTCAAAAGCAGTACCAAGTGACCTCAGCAGATCAGCCACCCGCTCTGGTTTGCTGTCACACTGATTTTGTACCTTCTGTGCCATCCGGCTCGGCCTGCTCCTCTCGCTGCTTCTGCTTGAACTTCATGTTCCCGTAGTGCATCACGGCTCCCGTCAGCTTGTAGAGCCCAGATTTCTCTTCTGGGGTGAAGCCCAGGATGTCAATGGCGCTCTGGCATGGAAAGGGCAGCACGTCAGTCAGTTGGCCCCAGTGATGGAGGAGGAACACCCACCCCTTCTGTTGGTTCCACTTACGTCTGTAGCCAGCAGCTCCTCTGCATCATCTATGCTGGCCACCAGGATCTCCCCCTGGCTAATGAACGGGTAGTCGTAAGGGTTGGTCGTAATAAGCAGCAGCTCTGAAATGACAAATAGTTCCAGGAGGTTATGCAGATGCAAAGAAAAAACCCACCCAGTGGACTTGAGCTCCTGCACCCTGGGCTGGAACTTTTACCGCTGGATCCTAAATTGAACTTAGAATTAAAAATCTTTTAGACAGTTCCACAATACTCAGGCTGTCATGGAAAATATAGTCCAGGGAAGACTTTTCAGTCTCCCACACAATGGAGATGAAGGACCCTAGAGAGAACCTTTAAATTCCCTTGCCTTGCACGCTAATGGTGCATATCAGTGTCGGCTGGGAGAAGTTAATAGGGAAAACTGGCTGAGTGCGGGTCAGGACGAGAGCCAACCCAGGTGGTTTGGTATAATCATAGCCTTTTCTAAAATCTGTTGAAAAGCAGCAGCCTGTTTCCAAGCTGGAGACCAGAAGGCTGAGCAAATACAGCCAAAGAGCAAAGAAGCAGTGTGCATGGAGACCTCTGTGAGGGGCAGACAAGGGGCAGTGTGCAGTGCCTCCGTGGGCTTGATTATTCTGTTTGCTTTGGCGTCGCATTTGGCCATAGGTTGTTTCTGTGCCAGAACACAAGGGGGCGCCAAAGGACAGTTAGGTGTTCAGTTGCTCAGAAGGTTTTTATAAACCAGAGCTGGTCAGGAGTGGTCTAATCTTGTTGCCCTCCATTTGATTAGGTTTTCAAATTGGCATGTCACTGCCCAGA 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Task1_train_23807 | Consider this mutation in MYH3 (myosin heavy chain 3) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Freeman-Sheldon syndrome | GAGAGGTCTTCCCTGCCCACCCTGCCTAAAGCAAGCCTGGCCCCCAGTTCCTCTCTTACACACGCTGTTCATTGAACTTGGTCTGAATTTATCTTTATCTGAAATGGTCTTGTTGGGTTGTTTTGTTTTTCATCATCTGTTGCCTCTGGTCTCTACACTCTTTGAGGACAGGGCTCTTGCCTATTTTGTGAGGCACAAAGCAAATTCCATCTTAACCAAACTCAGACTCACAAAACGGGAGGAGTTGTCATTCCTCACAGTCTTGGCGTTCCCAAAGGCCTCCAGCAGGGGATTGGCACTGATGATTTGATCTTCCAGAGTCCCCTAATGCAAGAAATTGAGGGAAGAAGAGGAAACATTTTTTTTTGAGATGGAGTTACACTCTTGTTGCCCAGGCTGCAGTGCAATGGCACGATCTTGGCTTACTGCAACCTCCACCTCCCGGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATATTGGTCAGGTTGGTCTCGAACTCCTAACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCCAGCCTGAGGAAACATGTTTTTAAGCCACAGAATGACAGTAAAAAATGCTCACCCACTCTGTGACTCTGGCTTGCCCTGATAAAGCCCCACCCTCCTTGACTTTCCAATCCTAGGACCAACCAAATCAGCAGCATGTCTTACTCAAAACACTTTTGCCATTTTGTTATATTTGGCACTACAGTTGGGGATCTCTTGACTGAGCATTCCTTTAACACTTCAATCCCTTGATTCTCCAGTCAGTTGTCCGTATTCATTTCATGCTGCTGTAATACATTTGTTTCAAAAGCCCAGGATATGCTGTGAGTCACTCACATTGGTATATGTGATTCTTCCACAAAAGAACAAGCTCTCTGAGCCGTCTGCAGATTGACCTCTGAAGTTTAGCCCTAGAGCCTTGTCTTCTAAGAAATCCCGGGATCTAGTCCTACAAGACCAACTTGACACTGCGTTGTCTAAGGTGACTGGCTGTCCTTCAAGATAGTAAATCCTAGCCTGTTCTCCATTCTCTGAAGAGGGGGGAATGTGAGGACATTTGGCCCCCTCATTCTGAGGTTAAGACCACAGTTAAAAGTGGAAGCAAAGCAAGCCTTCCTCTCCCATCTATACCTTCATTTTGGAGTCCTTCTTCTTGGCCAGGTCCCCAGTAGCTGCAATTGTTGCAAAGTACTGGATGACCCGTTTGGTGTTCACAGTCTTTCCTGCCCCGGATTCTCCGCTGTACAGAGTGATCAAAAGAGAGAGAAAGAAACAAGTCTGTTAGTATAAACAGGCTTTTCAGGATGTCATACTGAGGCCTGGGCATGGTCTGAGCCATCTCTGACACACACTCACCACACTAATGTGACAGACCACTTGAGAAGGCAGACGCCCAGGGCACAGGTGCCACAGGCACTTGCTCAGCTGACCCAAGGATGGGTAATTCCATTTTTCTGAGGCCTTATGCAGACCTTCCTCCCCATCCCCAAATCGATCTTTTTATTTTTTATTTATTTATTTTTCTCTTTTATTTTTTATTTTTTGAGACAGAATCTCACTCTGCTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGGCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGTGACTACAGGTGCCCGCCACCACACCCAGCTAATTTTTTTGTATTTTTTTTAGTAGAGGCAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGGACCTCGTGATCCGCCCATCTCAGCCTACCAAAGTGCTGGGATTACAGGTGTCAGCCACCGCGCCCAGCCTGATCTTTTTATTATAGACTCTGCTCCAAACACTTTCTAATGAACAGAATAGAGCCAGTGGCACAGCTATGAAACCACTCTATGCCATGGATACTTACGTGATCAGAATGGACTGGTTTTCACGATCTGCCAGAGGAAAAAATAAAATAGAGTTGATGGCAATAGAAAAAGAGCTTCCCGATTCTACCCAACTCTCAAGTAGCCAGAGTTAAATTGCACAATTCCTCTTCCTTTACATTTTTTGTTTAGCCTTTAGGTGGGAATCTGAAGAGCCTCCATCTGCTTTTTATTTTATTTTATTTTTAATTGACAAACAATATTTGTATATATTTGTAGGGTACAACATGATGATTTGATATATGTTTATATGGCAGAATGATTAAATCAAGCTAATTAACAAATCCGTCACCTCACATACTTATTTTTTTGTGGAGAAAACATTTAAAATATACTATTTTAGGGATTTTGAAATATACAATGCATTATTACTTATCGGAGTCACCATTCTATGGGACAGATCACCAGCACCGATTTCTCCTTTCCAGCTGTATCCTTTGGTCAATATCGAAAGCCTCCTTCTTGAGACTGAGACTCAGAGAGGGCAAGTCTCCACTCAGAATCAGCCAGTGGCAGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGTGGCAGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAAAGTGACCCCTGTCTCTATTAAAAATATAAAAATAGCCGGACATGGTGGTGCATACCTGTAGTCGCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACATAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAACCAGCCAGTGGCTTCTCATCGTTCTTGCTGTATTAGGCTGAACTATATAAAATGATCAGTTTTTGGTTTTGATCCATGAAAACATCCATATCCGTTTTGCATATTCTAACTTGCATTAAATCCAAAACTCGTCACCTTGGCATGCGGGGCCCTACATGATGCAGCCCCTTTCTGCCTCTTTTGGCTCCTTCTTCCTCCTTTCCCTGTGCTAAACACCAGATGGGGTCCAGCCTGGGAGTAAGGGGCAACTGCCGCTCGCCTCATGCAGTGCCTGCTCCAGCATCCCATGCTTCCTCCTGGGAAACTCACCAGTCAGCATGAACTGATAGGCGTTGTCAGAGATGGAGAAGATGTGGGGTGGGGCCTCCTGGCGCTTTTTGCCTCGGTAGCCTTCCACCACCTCGGGGTTGTACACCGGCAGCCACTTGTAGGGGTTGACAGTGACACAGAAGAGGCCTGAGTAGGTCTGTGGGAGGAAAAACATATACGTGCGTATATGTATGTATGTGCATATGGAAAACCCCTTGCCTTTATTATTATTATTGTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACATGCCATCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGAATGGTCTCGATCTCTTGACCTCATGATCCACCCGCCTTACCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCACACCCAGCTGCCTTTATTATTATCTCATGTTTCTTTGGGATAAACTTATAAAGGGGGGAGGCTACCATTCCTATTTATAGTGAGGCACTGAGACTCAAAAAGGGGAGTGGCGACCCTCCCACAGTTGGTAAGTCACAGCACCCCGTGACCAAGCCTGGCCCCAGCTTCCCCGCTCTCCGGCTCCTGGTCCTCCTTCCCACCTTCCTTCTTCCTGCCCCATCCACCTCTTGCTTTCTTGCCTTCTTTCTCCTCCGTCTTTGTGTTTTGTTCATCAGCTAGGCAAGCACTCATCTTCCAGAATCCCACGGCCCACACACATACCTCTGCCTCCCTCCCCTGCCCGCATATCTAATGCCCCAGGGAAACCACGTCGAAAGCCCTCGCTGACAT 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GAGAGGTCTTCCCTGCCCACCCTGCCTAAAGCAAGCCTGGCCCCCAGTTCCTCTCTTACACACGCTGTTCATTGAACTTGGTCTGAATTTATCTTTATCTGAAATGGTCTTGTTGGGTTGTTTTGTTTTTCATCATCTGTTGCCTCTGGTCTCTACACTCTTTGAGGACAGGGCTCTTGCCTATTTTGTGAGGCACAAAGCAAATTCCATCTTAACCAAACTCAGACTCACAAAACGGGAGGAGTTGTCATTCCTCACAGTCTTGGCGTTCCCAAAGGCCTCCAGCAGGGGATTGGCACTGATGATTTGATCTTCCAGAGTCCCCTAATGCAAGAAATTGAGGGAAGAAGAGGAAACATTTTTTTTTGAGATGGAGTTACACTCTTGTTGCCCAGGCTGCAGTGCAATGGCACGATCTTGGCTTACTGCAACCTCCACCTCCCGGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATATTGGTCAGGTTGGTCTCGAACTCCTAACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCCAGCCTGAGGAAACATGTTTTTAAGCCACAGAATGACAGTAAAAAATGCTCACCCACTCTGTGACTCTGGCTTGCCCTGATAAAGCCCCACCCTCCTTGACTTTCCAATCCTAGGACCAACCAAATCAGCAGCATGTCTTACTCAAAACACTTTTGCCATTTTGTTATATTTGGCACTACAGTTGGGGATCTCTTGACTGAGCATTCCTTTAACACTTCAATCCCTTGATTCTCCAGTCAGTTGTCCGTATTCATTTCATGCTGCTGTAATACATTTGTTTCAAAAGCCCAGGATATGCTGTGAGTCACTCACATTGGTATATGTGATTCTTCCACAAAAGAACAAGCTCTCTGAGCCGTCTGCAGATTGACCTCTGAAGTTTAGCCCTAGAGCCTTGTCTTCTAAGAAATCCCGGGATCTAGTCCTACAAGACCAACTTGACACTGCGTTGTCTAAGGTGACTGGCTGTCCTTCAAGATAGTAAATCCTAGCCTGTTCTCCATTCTCTGAAGAGGGGGGAATGTGAGGACATTTGGCCCCCTCATTCTGAGGTTAAGACCACAGTTAAAAGTGGAAGCAAAGCAAGCCTTCCTCTCCCATCTATACCTTCATTTTGGAGTCCTTCTTCTTGGCCAGGTCCCCAGTAGCTGCAATTGTTGCAAAGTACTGGATGACCCGTTTGGTGTTCACAGTCTTTCCTGCCCCGGATTCTCCGCTGTACAGAGTGATCAAAAGAGAGAGAAAGAAACAAGTCTGTTAGTATAAACAGGCTTTTCAGGATGTCATACTGAGGCCTGGGCATGGTCTGAGCCATCTCTGACACACACTCACCACACTAATGTGACAGACCACTTGAGAAGGCAGACGCCCAGGGCACAGGTGCCACAGGCACTTGCTCAGCTGACCCAAGGATGGGTAATTCCATTTTTCTGAGGCCTTATGCAGACCTTCCTCCCCATCCCCAAATCGATCTTTTTATTTTTTATTTATTTATTTTTCTCTTTTATTTTTTATTTTTTGAGACAGAATCTCACTCTGCTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGGCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGTGACTACAGGTGCCCGCCACCACACCCAGCTAATTTTTTTGTATTTTTTTTAGTAGAGGCAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGGACCTCGTGATCCGCCCATCTCAGCCTACCAAAGTGCTGGGATTACAGGTGTCAGCCACCGCGCCCAGCCTGATCTTTTTATTATAGACTCTGCTCCAAACACTTTCTAATGAACAGAATAGAGCCAGTGGCACAGCTATGAAACCACTCTATGCCATGGATACTTACATGATCAGAATGGACTGGTTTTCACGATCTGCCAGAGGAAAAAATAAAATAGAGTTGATGGCAATAGAAAAAGAGCTTCCCGATTCTACCCAACTCTCAAGTAGCCAGAGTTAAATTGCACAATTCCTCTTCCTTTACATTTTTTGTTTAGCCTTTAGGTGGGAATCTGAAGAGCCTCCATCTGCTTTTTATTTTATTTTATTTTTAATTGACAAACAATATTTGTATATATTTGTAGGGTACAACATGATGATTTGATATATGTTTATATGGCAGAATGATTAAATCAAGCTAATTAACAAATCCGTCACCTCACATACTTATTTTTTTGTGGAGAAAACATTTAAAATATACTATTTTAGGGATTTTGAAATATACAATGCATTATTACTTATCGGAGTCACCATTCTATGGGACAGATCACCAGCACCGATTTCTCCTTTCCAGCTGTATCCTTTGGTCAATATCGAAAGCCTCCTTCTTGAGACTGAGACTCAGAGAGGGCAAGTCTCCACTCAGAATCAGCCAGTGGCAGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGTGGCAGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAAAGTGACCCCTGTCTCTATTAAAAATATAAAAATAGCCGGACATGGTGGTGCATACCTGTAGTCGCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACATAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAACCAGCCAGTGGCTTCTCATCGTTCTTGCTGTATTAGGCTGAACTATATAAAATGATCAGTTTTTGGTTTTGATCCATGAAAACATCCATATCCGTTTTGCATATTCTAACTTGCATTAAATCCAAAACTCGTCACCTTGGCATGCGGGGCCCTACATGATGCAGCCCCTTTCTGCCTCTTTTGGCTCCTTCTTCCTCCTTTCCCTGTGCTAAACACCAGATGGGGTCCAGCCTGGGAGTAAGGGGCAACTGCCGCTCGCCTCATGCAGTGCCTGCTCCAGCATCCCATGCTTCCTCCTGGGAAACTCACCAGTCAGCATGAACTGATAGGCGTTGTCAGAGATGGAGAAGATGTGGGGTGGGGCCTCCTGGCGCTTTTTGCCTCGGTAGCCTTCCACCACCTCGGGGTTGTACACCGGCAGCCACTTGTAGGGGTTGACAGTGACACAGAAGAGGCCTGAGTAGGTCTGTGGGAGGAAAAACATATACGTGCGTATATGTATGTATGTGCATATGGAAAACCCCTTGCCTTTATTATTATTATTGTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACATGCCATCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGAATGGTCTCGATCTCTTGACCTCATGATCCACCCGCCTTACCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCACACCCAGCTGCCTTTATTATTATCTCATGTTTCTTTGGGATAAACTTATAAAGGGGGGAGGCTACCATTCCTATTTATAGTGAGGCACTGAGACTCAAAAAGGGGAGTGGCGACCCTCCCACAGTTGGTAAGTCACAGCACCCCGTGACCAAGCCTGGCCCCAGCTTCCCCGCTCTCCGGCTCCTGGTCCTCCTTCCCACCTTCCTTCTTCCTGCCCCATCCACCTCTTGCTTTCTTGCCTTCTTTCTCCTCCGTCTTTGTGTTTTGTTCATCAGCTAGGCAAGCACTCATCTTCCAGAATCCCACGGCCCACACACATACCTCTGCCTCCCTCCCCTGCCCGCATATCTAATGCCCCAGGGAAACCACGTCGAAAGCCCTCGCTGACAT 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Task1_train_23808 | This alteration in MYH3 (myosin heavy chain 3) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; MYH3-related disorder | GAGAGGTCTTCCCTGCCCACCCTGCCTAAAGCAAGCCTGGCCCCCAGTTCCTCTCTTACACACGCTGTTCATTGAACTTGGTCTGAATTTATCTTTATCTGAAATGGTCTTGTTGGGTTGTTTTGTTTTTCATCATCTGTTGCCTCTGGTCTCTACACTCTTTGAGGACAGGGCTCTTGCCTATTTTGTGAGGCACAAAGCAAATTCCATCTTAACCAAACTCAGACTCACAAAACGGGAGGAGTTGTCATTCCTCACAGTCTTGGCGTTCCCAAAGGCCTCCAGCAGGGGATTGGCACTGATGATTTGATCTTCCAGAGTCCCCTAATGCAAGAAATTGAGGGAAGAAGAGGAAACATTTTTTTTTGAGATGGAGTTACACTCTTGTTGCCCAGGCTGCAGTGCAATGGCACGATCTTGGCTTACTGCAACCTCCACCTCCCGGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATATTGGTCAGGTTGGTCTCGAACTCCTAACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCCAGCCTGAGGAAACATGTTTTTAAGCCACAGAATGACAGTAAAAAATGCTCACCCACTCTGTGACTCTGGCTTGCCCTGATAAAGCCCCACCCTCCTTGACTTTCCAATCCTAGGACCAACCAAATCAGCAGCATGTCTTACTCAAAACACTTTTGCCATTTTGTTATATTTGGCACTACAGTTGGGGATCTCTTGACTGAGCATTCCTTTAACACTTCAATCCCTTGATTCTCCAGTCAGTTGTCCGTATTCATTTCATGCTGCTGTAATACATTTGTTTCAAAAGCCCAGGATATGCTGTGAGTCACTCACATTGGTATATGTGATTCTTCCACAAAAGAACAAGCTCTCTGAGCCGTCTGCAGATTGACCTCTGAAGTTTAGCCCTAGAGCCTTGTCTTCTAAGAAATCCCGGGATCTAGTCCTACAAGACCAACTTGACACTGCGTTGTCTAAGGTGACTGGCTGTCCTTCAAGATAGTAAATCCTAGCCTGTTCTCCATTCTCTGAAGAGGGGGGAATGTGAGGACATTTGGCCCCCTCATTCTGAGGTTAAGACCACAGTTAAAAGTGGAAGCAAAGCAAGCCTTCCTCTCCCATCTATACCTTCATTTTGGAGTCCTTCTTCTTGGCCAGGTCCCCAGTAGCTGCAATTGTTGCAAAGTACTGGATGACCCGTTTGGTGTTCACAGTCTTTCCTGCCCCGGATTCTCCGCTGTACAGAGTGATCAAAAGAGAGAGAAAGAAACAAGTCTGTTAGTATAAACAGGCTTTTCAGGATGTCATACTGAGGCCTGGGCATGGTCTGAGCCATCTCTGACACACACTCACCACACTAATGTGACAGACCACTTGAGAAGGCAGACGCCCAGGGCACAGGTGCCACAGGCACTTGCTCAGCTGACCCAAGGATGGGTAATTCCATTTTTCTGAGGCCTTATGCAGACCTTCCTCCCCATCCCCAAATCGATCTTTTTATTTTTTATTTATTTATTTTTCTCTTTTATTTTTTATTTTTTGAGACAGAATCTCACTCTGCTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGGCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGTGACTACAGGTGCCCGCCACCACACCCAGCTAATTTTTTTGTATTTTTTTTAGTAGAGGCAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGGACCTCGTGATCCGCCCATCTCAGCCTACCAAAGTGCTGGGATTACAGGTGTCAGCCACCGCGCCCAGCCTGATCTTTTTATTATAGACTCTGCTCCAAACACTTTCTAATGAACAGAATAGAGCCAGTGGCACAGCTATGAAACCACTCTATGCCATGGATACTTACGTGATCAGAATGGACTGGTTTTCACGATCTGCCAGAGGAAAAAATAAAATAGAGTTGATGGCAATAGAAAAAGAGCTTCCCGATTCTACCCAACTCTCAAGTAGCCAGAGTTAAATTGCACAATTCCTCTTCCTTTACATTTTTTGTTTAGCCTTTAGGTGGGAATCTGAAGAGCCTCCATCTGCTTTTTATTTTATTTTATTTTTAATTGACAAACAATATTTGTATATATTTGTAGGGTACAACATGATGATTTGATATATGTTTATATGGCAGAATGATTAAATCAAGCTAATTAACAAATCCGTCACCTCACATACTTATTTTTTTGTGGAGAAAACATTTAAAATATACTATTTTAGGGATTTTGAAATATACAATGCATTATTACTTATCGGAGTCACCATTCTATGGGACAGATCACCAGCACCGATTTCTCCTTTCCAGCTGTATCCTTTGGTCAATATCGAAAGCCTCCTTCTTGAGACTGAGACTCAGAGAGGGCAAGTCTCCACTCAGAATCAGCCAGTGGCAGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGTGGCAGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAAAGTGACCCCTGTCTCTATTAAAAATATAAAAATAGCCGGACATGGTGGTGCATACCTGTAGTCGCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACATAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAACCAGCCAGTGGCTTCTCATCGTTCTTGCTGTATTAGGCTGAACTATATAAAATGATCAGTTTTTGGTTTTGATCCATGAAAACATCCATATCCGTTTTGCATATTCTAACTTGCATTAAATCCAAAACTCGTCACCTTGGCATGCGGGGCCCTACATGATGCAGCCCCTTTCTGCCTCTTTTGGCTCCTTCTTCCTCCTTTCCCTGTGCTAAACACCAGATGGGGTCCAGCCTGGGAGTAAGGGGCAACTGCCGCTCGCCTCATGCAGTGCCTGCTCCAGCATCCCATGCTTCCTCCTGGGAAACTCACCAGTCAGCATGAACTGATAGGCGTTGTCAGAGATGGAGAAGATGTGGGGTGGGGCCTCCTGGCGCTTTTTGCCTCGGTAGCCTTCCACCACCTCGGGGTTGTACACCGGCAGCCACTTGTAGGGGTTGACAGTGACACAGAAGAGGCCTGAGTAGGTCTGTGGGAGGAAAAACATATACGTGCGTATATGTATGTATGTGCATATGGAAAACCCCTTGCCTTTATTATTATTATTGTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACATGCCATCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGAATGGTCTCGATCTCTTGACCTCATGATCCACCCGCCTTACCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCACACCCAGCTGCCTTTATTATTATCTCATGTTTCTTTGGGATAAACTTATAAAGGGGGGAGGCTACCATTCCTATTTATAGTGAGGCACTGAGACTCAAAAAGGGGAGTGGCGACCCTCCCACAGTTGGTAAGTCACAGCACCCCGTGACCAAGCCTGGCCCCAGCTTCCCCGCTCTCCGGCTCCTGGTCCTCCTTCCCACCTTCCTTCTTCCTGCCCCATCCACCTCTTGCTTTCTTGCCTTCTTTCTCCTCCGTCTTTGTGTTTTGTTCATCAGCTAGGCAAGCACTCATCTTCCAGAATCCCACGGCCCACACACATACCTCTGCCTCCCTCCCCTGCCCGCATATCTAATGCCCCAGGGAAACCACGTCGAAAGCCCTCGCTGACAT | GAGAGGTCTTCCCTGCCCACCCTGCCTAAAGCAAGCCTGGCCCCCAGTTCCTCTCTTACACACGCTGTTCATTGAACTTGGTCTGAATTTATCTTTATCTGAAATGGTCTTGTTGGGTTGTTTTGTTTTTCATCATCTGTTGCCTCTGGTCTCTACACTCTTTGAGGACAGGGCTCTTGCCTATTTTGTGAGGCACAAAGCAAATTCCATCTTAACCAAACTCAGACTCACAAAACGGGAGGAGTTGTCATTCCTCACAGTCTTGGCGTTCCCAAAGGCCTCCAGCAGGGGATTGGCACTGATGATTTGATCTTCCAGAGTCCCCTAATGCAAGAAATTGAGGGAAGAAGAGGAAACATTTTTTTTTGAGATGGAGTTACACTCTTGTTGCCCAGGCTGCAGTGCAATGGCACGATCTTGGCTTACTGCAACCTCCACCTCCCGGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATATTGGTCAGGTTGGTCTCGAACTCCTAACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCCAGCCTGAGGAAACATGTTTTTAAGCCACAGAATGACAGTAAAAAATGCTCACCCACTCTGTGACTCTGGCTTGCCCTGATAAAGCCCCACCCTCCTTGACTTTCCAATCCTAGGACCAACCAAATCAGCAGCATGTCTTACTCAAAACACTTTTGCCATTTTGTTATATTTGGCACTACAGTTGGGGATCTCTTGACTGAGCATTCCTTTAACACTTCAATCCCTTGATTCTCCAGTCAGTTGTCCGTATTCATTTCATGCTGCTGTAATACATTTGTTTCAAAAGCCCAGGATATGCTGTGAGTCACTCACATTGGTATATGTGATTCTTCCACAAAAGAACAAGCTCTCTGAGCCGTCTGCAGATTGACCTCTGAAGTTTAGCCCTAGAGCCTTGTCTTCTAAGAAATCCCGGGATCTAGTCCTACAAGACCAACTTGACACTGCGTTGTCTAAGGTGACTGGCTGTCCTTCAAGATAGTAAATCCTAGCCTGTTCTCCATTCTCTGAAGAGGGGGGAATGTGAGGACATTTGGCCCCCTCATTCTGAGGTTAAGACCACAGTTAAAAGTGGAAGCAAAGCAAGCCTTCCTCTCCCATCTATACCTTCATTTTGGAGTCCTTCTTCTTGGCCAGGTCCCCAGTAGCTGCAATTGTTGCAAAGTACTGGATGACCCGTTTGGTGTTCACAGTCTTTCCTGCCCCGGATTCTCCGCTGTACAGAGTGATCAAAAGAGAGAGAAAGAAACAAGTCTGTTAGTATAAACAGGCTTTTCAGGATGTCATACTGAGGCCTGGGCATGGTCTGAGCCATCTCTGACACACACTCACCACACTAATGTGACAGACCACTTGAGAAGGCAGACGCCCAGGGCACAGGTGCCACAGGCACTTGCTCAGCTGACCCAAGGATGGGTAATTCCATTTTTCTGAGGCCTTATGCAGACCTTCCTCCCCATCCCCAAATCGATCTTTTTATTTTTTATTTATTTATTTTTCTCTTTTATTTTTTATTTTTTGAGACAGAATCTCACTCTGCTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGGCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGTGACTACAGGTGCCCGCCACCACACCCAGCTAATTTTTTTGTATTTTTTTTAGTAGAGGCAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGGACCTCGTGATCCGCCCATCTCAGCCTACCAAAGTGCTGGGATTACAGGTGTCAGCCACCGCGCCCAGCCTGATCTTTTTATTATAGACTCTGCTCCAAACACTTTCTAATGAACAGAATAGAGCCAGTGGCACAGCTATGAAACCACTCTATGCCATGGATACTTACATGATCAGAATGGACTGGTTTTCACGATCTGCCAGAGGAAAAAATAAAATAGAGTTGATGGCAATAGAAAAAGAGCTTCCCGATTCTACCCAACTCTCAAGTAGCCAGAGTTAAATTGCACAATTCCTCTTCCTTTACATTTTTTGTTTAGCCTTTAGGTGGGAATCTGAAGAGCCTCCATCTGCTTTTTATTTTATTTTATTTTTAATTGACAAACAATATTTGTATATATTTGTAGGGTACAACATGATGATTTGATATATGTTTATATGGCAGAATGATTAAATCAAGCTAATTAACAAATCCGTCACCTCACATACTTATTTTTTTGTGGAGAAAACATTTAAAATATACTATTTTAGGGATTTTGAAATATACAATGCATTATTACTTATCGGAGTCACCATTCTATGGGACAGATCACCAGCACCGATTTCTCCTTTCCAGCTGTATCCTTTGGTCAATATCGAAAGCCTCCTTCTTGAGACTGAGACTCAGAGAGGGCAAGTCTCCACTCAGAATCAGCCAGTGGCAGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGTGGCAGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAAAGTGACCCCTGTCTCTATTAAAAATATAAAAATAGCCGGACATGGTGGTGCATACCTGTAGTCGCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACATAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAACCAGCCAGTGGCTTCTCATCGTTCTTGCTGTATTAGGCTGAACTATATAAAATGATCAGTTTTTGGTTTTGATCCATGAAAACATCCATATCCGTTTTGCATATTCTAACTTGCATTAAATCCAAAACTCGTCACCTTGGCATGCGGGGCCCTACATGATGCAGCCCCTTTCTGCCTCTTTTGGCTCCTTCTTCCTCCTTTCCCTGTGCTAAACACCAGATGGGGTCCAGCCTGGGAGTAAGGGGCAACTGCCGCTCGCCTCATGCAGTGCCTGCTCCAGCATCCCATGCTTCCTCCTGGGAAACTCACCAGTCAGCATGAACTGATAGGCGTTGTCAGAGATGGAGAAGATGTGGGGTGGGGCCTCCTGGCGCTTTTTGCCTCGGTAGCCTTCCACCACCTCGGGGTTGTACACCGGCAGCCACTTGTAGGGGTTGACAGTGACACAGAAGAGGCCTGAGTAGGTCTGTGGGAGGAAAAACATATACGTGCGTATATGTATGTATGTGCATATGGAAAACCCCTTGCCTTTATTATTATTATTGTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACATGCCATCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGAATGGTCTCGATCTCTTGACCTCATGATCCACCCGCCTTACCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCACACCCAGCTGCCTTTATTATTATCTCATGTTTCTTTGGGATAAACTTATAAAGGGGGGAGGCTACCATTCCTATTTATAGTGAGGCACTGAGACTCAAAAAGGGGAGTGGCGACCCTCCCACAGTTGGTAAGTCACAGCACCCCGTGACCAAGCCTGGCCCCAGCTTCCCCGCTCTCCGGCTCCTGGTCCTCCTTCCCACCTTCCTTCTTCCTGCCCCATCCACCTCTTGCTTTCTTGCCTTCTTTCTCCTCCGTCTTTGTGTTTTGTTCATCAGCTAGGCAAGCACTCATCTTCCAGAATCCCACGGCCCACACACATACCTCTGCCTCCCTCCCCTGCCCGCATATCTAATGCCCCAGGGAAACCACGTCGAAAGCCCTCGCTGACAT |
Task1_train_23809 | This mutation is located in gene MYH3 (myosin heavy chain 3) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Arthrogryposis, distal, type 2B3 | GAGAGGTCTTCCCTGCCCACCCTGCCTAAAGCAAGCCTGGCCCCCAGTTCCTCTCTTACACACGCTGTTCATTGAACTTGGTCTGAATTTATCTTTATCTGAAATGGTCTTGTTGGGTTGTTTTGTTTTTCATCATCTGTTGCCTCTGGTCTCTACACTCTTTGAGGACAGGGCTCTTGCCTATTTTGTGAGGCACAAAGCAAATTCCATCTTAACCAAACTCAGACTCACAAAACGGGAGGAGTTGTCATTCCTCACAGTCTTGGCGTTCCCAAAGGCCTCCAGCAGGGGATTGGCACTGATGATTTGATCTTCCAGAGTCCCCTAATGCAAGAAATTGAGGGAAGAAGAGGAAACATTTTTTTTTGAGATGGAGTTACACTCTTGTTGCCCAGGCTGCAGTGCAATGGCACGATCTTGGCTTACTGCAACCTCCACCTCCCGGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATATTGGTCAGGTTGGTCTCGAACTCCTAACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCCAGCCTGAGGAAACATGTTTTTAAGCCACAGAATGACAGTAAAAAATGCTCACCCACTCTGTGACTCTGGCTTGCCCTGATAAAGCCCCACCCTCCTTGACTTTCCAATCCTAGGACCAACCAAATCAGCAGCATGTCTTACTCAAAACACTTTTGCCATTTTGTTATATTTGGCACTACAGTTGGGGATCTCTTGACTGAGCATTCCTTTAACACTTCAATCCCTTGATTCTCCAGTCAGTTGTCCGTATTCATTTCATGCTGCTGTAATACATTTGTTTCAAAAGCCCAGGATATGCTGTGAGTCACTCACATTGGTATATGTGATTCTTCCACAAAAGAACAAGCTCTCTGAGCCGTCTGCAGATTGACCTCTGAAGTTTAGCCCTAGAGCCTTGTCTTCTAAGAAATCCCGGGATCTAGTCCTACAAGACCAACTTGACACTGCGTTGTCTAAGGTGACTGGCTGTCCTTCAAGATAGTAAATCCTAGCCTGTTCTCCATTCTCTGAAGAGGGGGGAATGTGAGGACATTTGGCCCCCTCATTCTGAGGTTAAGACCACAGTTAAAAGTGGAAGCAAAGCAAGCCTTCCTCTCCCATCTATACCTTCATTTTGGAGTCCTTCTTCTTGGCCAGGTCCCCAGTAGCTGCAATTGTTGCAAAGTACTGGATGACCCGTTTGGTGTTCACAGTCTTTCCTGCCCCGGATTCTCCGCTGTACAGAGTGATCAAAAGAGAGAGAAAGAAACAAGTCTGTTAGTATAAACAGGCTTTTCAGGATGTCATACTGAGGCCTGGGCATGGTCTGAGCCATCTCTGACACACACTCACCACACTAATGTGACAGACCACTTGAGAAGGCAGACGCCCAGGGCACAGGTGCCACAGGCACTTGCTCAGCTGACCCAAGGATGGGTAATTCCATTTTTCTGAGGCCTTATGCAGACCTTCCTCCCCATCCCCAAATCGATCTTTTTATTTTTTATTTATTTATTTTTCTCTTTTATTTTTTATTTTTTGAGACAGAATCTCACTCTGCTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGGCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGTGACTACAGGTGCCCGCCACCACACCCAGCTAATTTTTTTGTATTTTTTTTAGTAGAGGCAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGGACCTCGTGATCCGCCCATCTCAGCCTACCAAAGTGCTGGGATTACAGGTGTCAGCCACCGCGCCCAGCCTGATCTTTTTATTATAGACTCTGCTCCAAACACTTTCTAATGAACAGAATAGAGCCAGTGGCACAGCTATGAAACCACTCTATGCCATGGATACTTACGTGATCAGAATGGACTGGTTTTCACGATCTGCCAGAGGAAAAAATAAAATAGAGTTGATGGCAATAGAAAAAGAGCTTCCCGATTCTACCCAACTCTCAAGTAGCCAGAGTTAAATTGCACAATTCCTCTTCCTTTACATTTTTTGTTTAGCCTTTAGGTGGGAATCTGAAGAGCCTCCATCTGCTTTTTATTTTATTTTATTTTTAATTGACAAACAATATTTGTATATATTTGTAGGGTACAACATGATGATTTGATATATGTTTATATGGCAGAATGATTAAATCAAGCTAATTAACAAATCCGTCACCTCACATACTTATTTTTTTGTGGAGAAAACATTTAAAATATACTATTTTAGGGATTTTGAAATATACAATGCATTATTACTTATCGGAGTCACCATTCTATGGGACAGATCACCAGCACCGATTTCTCCTTTCCAGCTGTATCCTTTGGTCAATATCGAAAGCCTCCTTCTTGAGACTGAGACTCAGAGAGGGCAAGTCTCCACTCAGAATCAGCCAGTGGCAGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGTGGCAGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAAAGTGACCCCTGTCTCTATTAAAAATATAAAAATAGCCGGACATGGTGGTGCATACCTGTAGTCGCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACATAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAACCAGCCAGTGGCTTCTCATCGTTCTTGCTGTATTAGGCTGAACTATATAAAATGATCAGTTTTTGGTTTTGATCCATGAAAACATCCATATCCGTTTTGCATATTCTAACTTGCATTAAATCCAAAACTCGTCACCTTGGCATGCGGGGCCCTACATGATGCAGCCCCTTTCTGCCTCTTTTGGCTCCTTCTTCCTCCTTTCCCTGTGCTAAACACCAGATGGGGTCCAGCCTGGGAGTAAGGGGCAACTGCCGCTCGCCTCATGCAGTGCCTGCTCCAGCATCCCATGCTTCCTCCTGGGAAACTCACCAGTCAGCATGAACTGATAGGCGTTGTCAGAGATGGAGAAGATGTGGGGTGGGGCCTCCTGGCGCTTTTTGCCTCGGTAGCCTTCCACCACCTCGGGGTTGTACACCGGCAGCCACTTGTAGGGGTTGACAGTGACACAGAAGAGGCCTGAGTAGGTCTGTGGGAGGAAAAACATATACGTGCGTATATGTATGTATGTGCATATGGAAAACCCCTTGCCTTTATTATTATTATTGTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACATGCCATCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGAATGGTCTCGATCTCTTGACCTCATGATCCACCCGCCTTACCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCACACCCAGCTGCCTTTATTATTATCTCATGTTTCTTTGGGATAAACTTATAAAGGGGGGAGGCTACCATTCCTATTTATAGTGAGGCACTGAGACTCAAAAAGGGGAGTGGCGACCCTCCCACAGTTGGTAAGTCACAGCACCCCGTGACCAAGCCTGGCCCCAGCTTCCCCGCTCTCCGGCTCCTGGTCCTCCTTCCCACCTTCCTTCTTCCTGCCCCATCCACCTCTTGCTTTCTTGCCTTCTTTCTCCTCCGTCTTTGTGTTTTGTTCATCAGCTAGGCAAGCACTCATCTTCCAGAATCCCACGGCCCACACACATACCTCTGCCTCCCTCCCCTGCCCGCATATCTAATGCCCCAGGGAAACCACGTCGAAAGCCCTCGCTGACAT | GAGAGGTCTTCCCTGCCCACCCTGCCTAAAGCAAGCCTGGCCCCCAGTTCCTCTCTTACACACGCTGTTCATTGAACTTGGTCTGAATTTATCTTTATCTGAAATGGTCTTGTTGGGTTGTTTTGTTTTTCATCATCTGTTGCCTCTGGTCTCTACACTCTTTGAGGACAGGGCTCTTGCCTATTTTGTGAGGCACAAAGCAAATTCCATCTTAACCAAACTCAGACTCACAAAACGGGAGGAGTTGTCATTCCTCACAGTCTTGGCGTTCCCAAAGGCCTCCAGCAGGGGATTGGCACTGATGATTTGATCTTCCAGAGTCCCCTAATGCAAGAAATTGAGGGAAGAAGAGGAAACATTTTTTTTTGAGATGGAGTTACACTCTTGTTGCCCAGGCTGCAGTGCAATGGCACGATCTTGGCTTACTGCAACCTCCACCTCCCGGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATATTGGTCAGGTTGGTCTCGAACTCCTAACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCCAGCCTGAGGAAACATGTTTTTAAGCCACAGAATGACAGTAAAAAATGCTCACCCACTCTGTGACTCTGGCTTGCCCTGATAAAGCCCCACCCTCCTTGACTTTCCAATCCTAGGACCAACCAAATCAGCAGCATGTCTTACTCAAAACACTTTTGCCATTTTGTTATATTTGGCACTACAGTTGGGGATCTCTTGACTGAGCATTCCTTTAACACTTCAATCCCTTGATTCTCCAGTCAGTTGTCCGTATTCATTTCATGCTGCTGTAATACATTTGTTTCAAAAGCCCAGGATATGCTGTGAGTCACTCACATTGGTATATGTGATTCTTCCACAAAAGAACAAGCTCTCTGAGCCGTCTGCAGATTGACCTCTGAAGTTTAGCCCTAGAGCCTTGTCTTCTAAGAAATCCCGGGATCTAGTCCTACAAGACCAACTTGACACTGCGTTGTCTAAGGTGACTGGCTGTCCTTCAAGATAGTAAATCCTAGCCTGTTCTCCATTCTCTGAAGAGGGGGGAATGTGAGGACATTTGGCCCCCTCATTCTGAGGTTAAGACCACAGTTAAAAGTGGAAGCAAAGCAAGCCTTCCTCTCCCATCTATACCTTCATTTTGGAGTCCTTCTTCTTGGCCAGGTCCCCAGTAGCTGCAATTGTTGCAAAGTACTGGATGACCCGTTTGGTGTTCACAGTCTTTCCTGCCCCGGATTCTCCGCTGTACAGAGTGATCAAAAGAGAGAGAAAGAAACAAGTCTGTTAGTATAAACAGGCTTTTCAGGATGTCATACTGAGGCCTGGGCATGGTCTGAGCCATCTCTGACACACACTCACCACACTAATGTGACAGACCACTTGAGAAGGCAGACGCCCAGGGCACAGGTGCCACAGGCACTTGCTCAGCTGACCCAAGGATGGGTAATTCCATTTTTCTGAGGCCTTATGCAGACCTTCCTCCCCATCCCCAAATCGATCTTTTTATTTTTTATTTATTTATTTTTCTCTTTTATTTTTTATTTTTTGAGACAGAATCTCACTCTGCTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGGCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGTGACTACAGGTGCCCGCCACCACACCCAGCTAATTTTTTTGTATTTTTTTTAGTAGAGGCAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGGACCTCGTGATCCGCCCATCTCAGCCTACCAAAGTGCTGGGATTACAGGTGTCAGCCACCGCGCCCAGCCTGATCTTTTTATTATAGACTCTGCTCCAAACACTTTCTAATGAACAGAATAGAGCCAGTGGCACAGCTATGAAACCACTCTATGCCATGGATACTTACATGATCAGAATGGACTGGTTTTCACGATCTGCCAGAGGAAAAAATAAAATAGAGTTGATGGCAATAGAAAAAGAGCTTCCCGATTCTACCCAACTCTCAAGTAGCCAGAGTTAAATTGCACAATTCCTCTTCCTTTACATTTTTTGTTTAGCCTTTAGGTGGGAATCTGAAGAGCCTCCATCTGCTTTTTATTTTATTTTATTTTTAATTGACAAACAATATTTGTATATATTTGTAGGGTACAACATGATGATTTGATATATGTTTATATGGCAGAATGATTAAATCAAGCTAATTAACAAATCCGTCACCTCACATACTTATTTTTTTGTGGAGAAAACATTTAAAATATACTATTTTAGGGATTTTGAAATATACAATGCATTATTACTTATCGGAGTCACCATTCTATGGGACAGATCACCAGCACCGATTTCTCCTTTCCAGCTGTATCCTTTGGTCAATATCGAAAGCCTCCTTCTTGAGACTGAGACTCAGAGAGGGCAAGTCTCCACTCAGAATCAGCCAGTGGCAGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGTGGCAGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAAAGTGACCCCTGTCTCTATTAAAAATATAAAAATAGCCGGACATGGTGGTGCATACCTGTAGTCGCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACATAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAACCAGCCAGTGGCTTCTCATCGTTCTTGCTGTATTAGGCTGAACTATATAAAATGATCAGTTTTTGGTTTTGATCCATGAAAACATCCATATCCGTTTTGCATATTCTAACTTGCATTAAATCCAAAACTCGTCACCTTGGCATGCGGGGCCCTACATGATGCAGCCCCTTTCTGCCTCTTTTGGCTCCTTCTTCCTCCTTTCCCTGTGCTAAACACCAGATGGGGTCCAGCCTGGGAGTAAGGGGCAACTGCCGCTCGCCTCATGCAGTGCCTGCTCCAGCATCCCATGCTTCCTCCTGGGAAACTCACCAGTCAGCATGAACTGATAGGCGTTGTCAGAGATGGAGAAGATGTGGGGTGGGGCCTCCTGGCGCTTTTTGCCTCGGTAGCCTTCCACCACCTCGGGGTTGTACACCGGCAGCCACTTGTAGGGGTTGACAGTGACACAGAAGAGGCCTGAGTAGGTCTGTGGGAGGAAAAACATATACGTGCGTATATGTATGTATGTGCATATGGAAAACCCCTTGCCTTTATTATTATTATTGTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACATGCCATCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGAATGGTCTCGATCTCTTGACCTCATGATCCACCCGCCTTACCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCACACCCAGCTGCCTTTATTATTATCTCATGTTTCTTTGGGATAAACTTATAAAGGGGGGAGGCTACCATTCCTATTTATAGTGAGGCACTGAGACTCAAAAAGGGGAGTGGCGACCCTCCCACAGTTGGTAAGTCACAGCACCCCGTGACCAAGCCTGGCCCCAGCTTCCCCGCTCTCCGGCTCCTGGTCCTCCTTCCCACCTTCCTTCTTCCTGCCCCATCCACCTCTTGCTTTCTTGCCTTCTTTCTCCTCCGTCTTTGTGTTTTGTTCATCAGCTAGGCAAGCACTCATCTTCCAGAATCCCACGGCCCACACACATACCTCTGCCTCCCTCCCCTGCCCGCATATCTAATGCCCCAGGGAAACCACGTCGAAAGCCCTCGCTGACAT |
Task1_train_23810 | A change on Chromosome 17 affects gene SCO1 (synthesis of cytochrome C oxidase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Mitochondrial complex 4 deficiency, nuclear type 4 | GCAATGGAGATGAGCCTGGAGGATACTATTAATATGTTAAATGAAAAAAGTCAGGCACAGAAAGATAAATACTGCATATTCATACGTGGAAACTAAAAAAGTTGATCTCACAGAAGTAGAGAGAAGAATTGTGGATACTAGAGGCTGGAAAGGGTTGGGGAGGATAGGGACTCTGTACCCCATAAATATGTACAACTGTTATGTGTCAATTAAACAACAGTTACTTTGTCATAGTAAATGTTTTATTTATCTTTAAGACAGAGTCTAGCTCTGTTGCCCAGGCTGAAGATCAGTGGCGTGATGTCAGCTCACTGCTACCTCCGCCTGCCAGGTTCACGCGAATTCTCCTGCCTCAGCCTCCCGAATATCTGGGATTATAGGTGTGCACCACCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACTTTGGTCTCCCAAAGTGCTGGGATTACAGGCCCACCATGCCCGGCCTGTTACAGTAAATGTTTTAAATTTATAAAACATGCACTGAGTTCAAAATATGTTTGTATTTAATTATTCATCTTTAATCTACCAATGAACATACTTCCAGAATATATGTTTGTTCTGATTTTACAATGCAGAGAATGAGTTACAGCGCTGGAGTTAGAAGCAATGTGTCCTTACTCTCAATTCAAGGCTCGATTAACTTAGTTGATACATGAAGGCCAAGTTCAAATCCTTTCTCTGTGACAAAATATAAAGAGCACTGCATCAGGAATTGAGAAACCCATTTCTTACTTACGCACTAACTATCCATAACAATTCCTAGCTTCACCTTTTTATTCACCCATAAAACTGGTGATAATACCATTTGTCCTATTTCACAAGGCACTGTAAGGTTCAAATGAACTGATATTCCAAAAACTTTAAGGCTAAATAAATGTAAAGTATTATTTAAAAAAATACCTTTCACATAATTTGCGATGGCTTCTTTTGTGTCCCTCTCTGGGTCAATGCTGATGAAAAGTGGAGTTAGATCTGGCAGAGTTGTAATGCTATCTGAAAGAGAGTTCCAATTAGTCCGTATTCACACCCTAAGGGAAAAGACAAAGAAAACCAGCAATAACAGGAGAGTATAGGACGTGCTGGACAGCTAGGTGTTTTGAAAGCAGATGGACATCTTAACATTCAGGTGAAGAGGAAGAGGACGGGGAAGGGGATGGAGAAGGGATGGCCTTTAGGAGGAGGAGACCCATATACAGTAGTATTATCTGTGGTGGATAATACAAGGTTACATATCCTATCAAATGCCTGCACCAGCACATAAATGTTCTTCCCCTGGATAATGTCATGTGGCTATCTTATCTCTGAATCCACTCCAGTATCTGTAGTTTTTTTCACTCCCACCATATCTCAAGGGCAAGAAGGTAAATTGTTAATAAGAGCTGAATATCCTGAAATAATTCACTGTATGGAGGAGGCACCCTTCCTTCTTACTAGTACTAGTAAAATGCCACAGACTGCAGACCATTGCAAAGATTTCCTAATTTAATTGTCACAATCAGTGGGGAAGAGGCAATGGCAGCATCAGTGATGCAAAGGAAGGGACACAAAAGTAGAGTTAAGGGAGACCACACTGACATTTTTAAGTGATCTAACATTTAACATCAAAACAAGCTTCTTTCAGTGGAGAATAAGGTCACAAGATTCAAAGCAACAAACAAGCCAAATGCTGAGATTTTATGTTCTTACAAATCACATAATTGCAAAACCCCACCTAACAATAATACAAGGGTGTGAAAAACCTGGTAACATGAAGTAAACATATACTTTGTTTAGTTAGTGATGGCTTTCTTACCTATTTCATCCACGACTTGAATCATCTTTTCTAGTTCTTCTGGACAGACATCAGGGCAATGAGTGAAGCCAAAATAAATCAATAACCACTGACCCAAGTAGTCCTTGTCAGTTTTACGCTCCCCAGTATGAGTTGTGAGGGAAAACGGTCCCCCAAGTAAAGGCTTGCCGATGTGTCGCTGCCGTTCCTTCTCTAACTCTTAAGGAGACAAAAACATATCGACACCAAAAAAAAAGTCAATTTAACCAGAGGTACTCAAATACCTGACATATGGCCCGTACTATGCTACTCATGGTGGGGGCACAAAATGTGGAAAAAACAGTTTCAGTTTTCAAGAAGCTAAAAAAATCTTTTCAGAAAAATAAGCACAAAACATTAAAACAAAATCAAATGAAATGCTATGGTATGTTGTAAAAAAGGAAAAAATATTTCTTCTTTTTCAGGAACAATTCAGTCCTAAGCCATTAGCTGTGTCCATGCTGGGGGCAGGGAGGGGCTGCAGTGGCCTAGAGCTGAATGTCTAAACAAGTGGGGTGCGGTGGGTGGCCTGGCATAGGGAGTCTGATCCTGAGGGTGCTAAGGAGGGCAGCTGGGTGGGGAGGTGATAGTGGTGACGGGACCTTAGTTACACACAGGAAATTGATGAAATAAATGAGTATATTAAAGAGAAGAGAGTTACAATAGGAAACAAGAGTCAACTATGGAGAGAAAGAGAGCTAGGCTGAACCCTGCAGTACTGCAAATACACTGCAGGTACTAGTGTGAACTTCTATCTATATAGATATAAATAAATATAGATGTACATAAATATATCTATTTTCTCACCATGTCCACTGAGAGGACCAGGGAGCAGACACACTCCAAGAACCATGAGCCCAGAACCTGACTTCTAAATATCATTCTTCACTAAAAGGAAACAGCTTTTTGGAGAAATGGCTGATACCAGGGTTGCGGCAAAGAAAGTGTAAAATGAGGCTGGAACCTCTTGTTGTGGCAGAAGGAAAGCAGAACTTAGAGAATATTGGAGACGTGTCAAAGACACAGAAGCCTGCTCCAAGGGGGCTCCCGCTGATCAATCTGGGACAACTTGGGCATCAAAATAAAGAGAATATGGATTTAAACTGAATGAATATATAGGAAACAAGTCCACAGATATAAATAAATGAATACATTGATAGTGGGATGGGGAACAGAATATGTAAGTATACGTATGTCAATACAAATCATGAAACACCATTAATTACATGAGTAACTTTTCAGTAGAAAACCTGTTAGACACACATTAATCAAGTGATCAAACTGGACATTATCAGTAATGGGACAACTGGTACTATGTGGTATCTGACCAGATGCACGGAGAATACAGCATCACTTTTGTGATATTCCTGCCAAAGGTACACAACCCGAATGACCTGAATGAGGAAACATCAGACAAATCCAAGCTAAGGGGCATTCTACAAAATAACTCTCCTGTAACTGTCAAAGCTGTCAAGGTTGTGGGAGTCAGTTAAAGCCTGGGAAACTGTTACAGATGAAGGAGGCTAAGGTAAACAACTAGATACAAGGTGGTATGGTTCTGAAACAGATCCTTTTGCTCTGAAAGACATCAAGTGGCAAAACTTGGAAGACTGAACTGTAATCCAGCCTGGGCAACAGGAGTGAAACTCTGTCTCAAAAAACAAACAAATAAACAATACCCTGAAGATTATCTGAACACTGAACAGCAGCAAAATTATCAGCGTCAATTTTCTAATTTTGATGGTTGTATTGTGGTTATGCTAGAAAAGGTCCTTGTTTGTAGGAAATACACCAAAAAGTGTTTGGAGCTAATGACGCAACATGTCAGCAAATAAATACTCTCAAATTATTTAGGAAGACTTTTCAGATTATTTAATAATACATTTTTTAAATAAAACAAACGTTAGAATTGCACTTGAAATTCCAAACTAAAGTCAAAAAAAGCTTCCATATTCTAGAATTTTCCCGCCACAACTTTCCTAGCTTTTGTTTCTTTGTGAAACTAAAGAAACTTACTGCTTATTAGACTATGAAAATCTTACCCAATACTACTTATTATGCCAAAGAGTCTCATATATATGTATGTCAGTACAAAACTTAACACTGCTAAGTTCCTAAAGCCTATGAATTCCCAGATTTAATCATTAACCTTTGTATATAATGTTATCAAAAGAGACTCCAAAGAATGGAAAGATTTA 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GCAATGGAGATGAGCCTGGAGGATACTATTAATATGTTAAATGAAAAAAGTCAGGCACAGAAAGATAAATACTGCATATTCATACGTGGAAACTAAAAAAGTTGATCTCACAGAAGTAGAGAGAAGAATTGTGGATACTAGAGGCTGGAAAGGGTTGGGGAGGATAGGGACTCTGTACCCCATAAATATGTACAACTGTTATGTGTCAATTAAACAACAGTTACTTTGTCATAGTAAATGTTTTATTTATCTTTAAGACAGAGTCTAGCTCTGTTGCCCAGGCTGAAGATCAGTGGCGTGATGTCAGCTCACTGCTACCTCCGCCTGCCAGGTTCACGCGAATTCTCCTGCCTCAGCCTCCCGAATATCTGGGATTATAGGTGTGCACCACCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACTTTGGTCTCCCAAAGTGCTGGGATTACAGGCCCACCATGCCCGGCCTGTTACAGTAAATGTTTTAAATTTATAAAACATGCACTGAGTTCAAAATATGTTTGTATTTAATTATTCATCTTTAATCTACCAATGAACATACTTCCAGAATATATGTTTGTTCTGATTTTACAATGCAGAGAATGAGTTACAGCGCTGGAGTTAGAAGCAATGTGTCCTTACTCTCAATTCAAGGCTCGATTAACTTAGTTGATACATGAAGGCCAAGTTCAAATCCTTTCTCTGTGACAAAATATAAAGAGCACTGCATCAGGAATTGAGAAACCCATTTCTTACTTACGCACTAACTATCCATAACAATTCCTAGCTTCACCTTTTTATTCACCCATAAAACTGGTGATAATACCATTTGTCCTATTTCACAAGGCACTGTAAGGTTCAAATGAACTGATATTCCAAAAACTTTAAGGCTAAATAAATGTAAAGTATTATTTAAAAAAATACCTTTCACATAATTTGCGATGGCTTCTTTTGTGTCCCTCTCTGGGTCAATGCTGATGAAAAGTGGAGTTAGATCTGGCAGAGTTGTAATGCTATCTGAAAGAGAGTTCCAATTAGTCCGTATTCACACCCTAAGGGAAAAGACAAAGAAAACCAGCAATAACAGGAGAGTATAGGACGTGCTGGACAGCTAGGTGTTTTGAAAGCAGATGGACATCTTAACATTCAGGTGAAGAGGAAGAGGACGGGGAAGGGGATGGAGAAGGGATGGCCTTTAGGAGGAGGAGACCCATATACAGTAGTATTATCTGTGGTGGATAATACAAGGTTACATATCCTATCAAATGCCTGCACCAGCACATAAATGTTCTTCCCCTGGATAATGTCATGTGGCTATCTTATCTCTGAATCCACTCCAGTATCTGTAGTTTTTTTCACTCCCACCATATCTCAAGGGCAAGAAGGTAAATTGTTAATAAGAGCTGAATATCCTGAAATAATTCACTGTATGGAGGAGGCACCCTTCCTTCTTACTAGTACTAGTAAAATGCCACAGACTGCAGACCATTGCAAAGATTTCCTAATTTAATTGTCACAATCAGTGGGGAAGAGGCAATGGCAGCATCAGTGATGCAAAGGAAGGGACACAAAAGTAGAGTTAAGGGAGACCACACTGACATTTTTAAGTGATCTAACATTTAACATCAAAACAAGCTTCTTTCAGTGGAGAATAAGGTCACAAGATTCAAAGCAACAAACAAGCCAAATGCTGAGATTTTATGTTCTTACAAATCACATAATTGCAAAACCCCACCTAACAATAATACAAGGGTGTGAAAAACCTGGTAACATGAAGTAAACATATACTTTGTTTAGTTAGTGATGGCTTTCTTACCTATTTCATCCACGACTTGAATCATCTTTTCTAGTTCTTCTGGACAGACATCAGGGCAATGAGTGAAGCCAAAATAAATCAATAACCACTGACCCAAGTAGTCCTTGTCAGTTTTACGCTCCCCAGTATGAGTTGTGAGGGAAAACGGTCCCCCAAGTAAAGGCTTGCTGATGTGTCGCTGCCGTTCCTTCTCTAACTCTTAAGGAGACAAAAACATATCGACACCAAAAAAAAAGTCAATTTAACCAGAGGTACTCAAATACCTGACATATGGCCCGTACTATGCTACTCATGGTGGGGGCACAAAATGTGGAAAAAACAGTTTCAGTTTTCAAGAAGCTAAAAAAATCTTTTCAGAAAAATAAGCACAAAACATTAAAACAAAATCAAATGAAATGCTATGGTATGTTGTAAAAAAGGAAAAAATATTTCTTCTTTTTCAGGAACAATTCAGTCCTAAGCCATTAGCTGTGTCCATGCTGGGGGCAGGGAGGGGCTGCAGTGGCCTAGAGCTGAATGTCTAAACAAGTGGGGTGCGGTGGGTGGCCTGGCATAGGGAGTCTGATCCTGAGGGTGCTAAGGAGGGCAGCTGGGTGGGGAGGTGATAGTGGTGACGGGACCTTAGTTACACACAGGAAATTGATGAAATAAATGAGTATATTAAAGAGAAGAGAGTTACAATAGGAAACAAGAGTCAACTATGGAGAGAAAGAGAGCTAGGCTGAACCCTGCAGTACTGCAAATACACTGCAGGTACTAGTGTGAACTTCTATCTATATAGATATAAATAAATATAGATGTACATAAATATATCTATTTTCTCACCATGTCCACTGAGAGGACCAGGGAGCAGACACACTCCAAGAACCATGAGCCCAGAACCTGACTTCTAAATATCATTCTTCACTAAAAGGAAACAGCTTTTTGGAGAAATGGCTGATACCAGGGTTGCGGCAAAGAAAGTGTAAAATGAGGCTGGAACCTCTTGTTGTGGCAGAAGGAAAGCAGAACTTAGAGAATATTGGAGACGTGTCAAAGACACAGAAGCCTGCTCCAAGGGGGCTCCCGCTGATCAATCTGGGACAACTTGGGCATCAAAATAAAGAGAATATGGATTTAAACTGAATGAATATATAGGAAACAAGTCCACAGATATAAATAAATGAATACATTGATAGTGGGATGGGGAACAGAATATGTAAGTATACGTATGTCAATACAAATCATGAAACACCATTAATTACATGAGTAACTTTTCAGTAGAAAACCTGTTAGACACACATTAATCAAGTGATCAAACTGGACATTATCAGTAATGGGACAACTGGTACTATGTGGTATCTGACCAGATGCACGGAGAATACAGCATCACTTTTGTGATATTCCTGCCAAAGGTACACAACCCGAATGACCTGAATGAGGAAACATCAGACAAATCCAAGCTAAGGGGCATTCTACAAAATAACTCTCCTGTAACTGTCAAAGCTGTCAAGGTTGTGGGAGTCAGTTAAAGCCTGGGAAACTGTTACAGATGAAGGAGGCTAAGGTAAACAACTAGATACAAGGTGGTATGGTTCTGAAACAGATCCTTTTGCTCTGAAAGACATCAAGTGGCAAAACTTGGAAGACTGAACTGTAATCCAGCCTGGGCAACAGGAGTGAAACTCTGTCTCAAAAAACAAACAAATAAACAATACCCTGAAGATTATCTGAACACTGAACAGCAGCAAAATTATCAGCGTCAATTTTCTAATTTTGATGGTTGTATTGTGGTTATGCTAGAAAAGGTCCTTGTTTGTAGGAAATACACCAAAAAGTGTTTGGAGCTAATGACGCAACATGTCAGCAAATAAATACTCTCAAATTATTTAGGAAGACTTTTCAGATTATTTAATAATACATTTTTTAAATAAAACAAACGTTAGAATTGCACTTGAAATTCCAAACTAAAGTCAAAAAAAGCTTCCATATTCTAGAATTTTCCCGCCACAACTTTCCTAGCTTTTGTTTCTTTGTGAAACTAAAGAAACTTACTGCTTATTAGACTATGAAAATCTTACCCAATACTACTTATTATGCCAAAGAGTCTCATATATATGTATGTCAGTACAAAACTTAACACTGCTAAGTTCCTAAAGCCTATGAATTCCCAGATTTAATCATTAACCTTTGTATATAATGTTATCAAAAGAGACTCCAAAGAATGGAAAGATTTA 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Task1_train_23811 | This variant affects gene DNAH9 (dynein axonemal heavy chain 9) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Ciliary dyskinesia, primary, 40 | AACACACACAGACACACATATACACACATGCTCCGGCCTTCCTGGGAAATCAAGTCTGCAGGTCAGGGCAGCGGTGCTTGTGTTATGGGTGTTTGTTTCTGCATAAAAAAATTACTCCAAAGCTTAGTGATTTTGTACAATAACCATTTCATAATATCTCACAAGTTTGTTGAGGGCAGGGCTCAGCTGGCCAGGTTTTCTGCTCCATGTGGCCATGACTGGGGTCACTTGGTACATTCAGCTGGTGGCCGGGCTGGAGGCCCCCGAGATGACTTCCTTCACATGCTGGGCATCTTGGCAGTGATGATTGGAAGGGAGGGTGCAGCTGGTCCTCTCTCCCTTCCTCAGGGCATTTCCACGCATTCCCTCTAGCAGGGTAGTCGGACGTCTTACACAGTAACTCAGGACATCAAGGACAAGTGTCCCAAGAGGCAGGAAGTGGAAAGTCCCAGTATCTGAAGGCCTGGGACTGAAAACTGGCACAACAGCACTTCCGCTGTACTCTATAGGTCAAAGCAGTCACAGATTAAAGGGCAGAGAGCACAGACAGCAACTCTTAATGACAGGAATGTCAAAGAATTTACAGCCTTTTAAATCTCCTATGGCTTGTATTTCTCATCCCATATATCAGCTAAGACTCTGCAAAGCAAGTCAAATGGATATGATTTCTCTTCAAGCTAGAGACTTTACAGCACCCTCCTCACCAGTGAAGGGAAGTACATTCCACACCTGTTGACATTTATTCCAGCCACCACTGAATTACACAGCAGAGCCAGATGTTTTAATCTGGGGAACAGTGAGTCATAGCGATCACTGAATGGAGCTGTGATGTAATGAAGACCTGCCATACCCAAATGTGTGTCTGTGCAGTTGTCACTGGACCAGCTTCTGTGTGGCTTTGAGATGATCCGTTTAGCTGAACAGTTCAGTTTAGAGATAGCAACTCTTGCCAATGTGCAAGAAGTCCTCCAGATCTCCTAGCTGGCCTGCCTTCCATTCACCTCCCTGCTTGGTTTCTGAACTTAGCGCAGCCTTCTCTGCCTGGCTGGAGCACTTTCTGAGTCAGTGCTCATGGGAGGCAGTGTAGCACTCTGCTCTAGGAGTCAGGATGTTCAGGCTCTGAAGCCACCCCTGTCTCTACCGACCTAGAGATTCTGGTGAGATATTTGGACTTTCTGACCTTTGTGTAATCTGAAAACAGGCATGTGAATGACTGGGTTGGCAAATCTCTAAGGTCTGTCCAGACTGTGACGTTCCATGATGTTATCATTAGAAGAAAAAATAAAGGGTGAGTCCTAACGCAGAAGCAAAGCTCCGCCATACCACTAACAGTCCTCTGTAGAAAGAATGGCTCTCCTCCCAGGGAGACTGTACCAACCCAAAGAGGGCTGGGGGGTCAGGACTTTGTACACACCCATGACCTTACCATGCTTCTCTGTGTCTCAATTAGCACATCTGTCTCCTCGCCCGCTGTGAATTATTTATGGTGCATGGACTTGATTTTGTTTATTTTCATTTCCCCAGCATTTGGAAAGGAGAAAGAAGTGGCTAATTTTCTAACATGTTCCACAGACCAGGTATTGTGCTAAATAATAAACATACATGATTATATTTCATCCTCTCAACAACCCTTTGATTAAGTGGTATCAGTCTCCACACACAGAAAGAGCAGAGTCAAACCCTGTCATCTTTCCATGGTTCATGTGATGCATGACACAGAATGGGGGCTTGTGTACTGAAAGCTTTGCTACAGGCAGCACAAATCCCCATTAACGGAAAGGGCCATATAAGTGATATTCTGCCTCTTCCCGCTATGAAGCGTGCAGCGGGCGCTCTCCATGATGGAATCACGGCTCTATCACCTACTGTGTAACACGCCTCCTCTCCTCTCTGGCTTTTGAAATGGTAGGTTGGAGGACTCGCTTCTGAAAACGTGAGGTGGGCAGATGCCGTGCAGAACTTCAAACAGCAGGAAAGGACGTTATGTGGAGACATTTTACTTATAACGGCTTTCATTTCCTACCTTGGCTTCTTCACAAAGAAATACCGGCAGAGCCTCCTGGACAGAACTTGGAGGCCCTACCTGAGCCAGCTGAAAGTACGTATGGCCTGAATTTCTCCCGACCACATCAGCCTCTGGGCACCAATGGGAAGACATCACGGTCATAATTCGCATCCTCTGGTGTCCTCCTGCACACTCATCCCCACCACCCCCTGAGCACCAGGTGTGAAACCTGCGTACCCGTGTCCTTCCACACTGCCTTGCATTGCTGCCCACTGCCCTCCAGGCCACCTGGGGGCAGCACCTCTCCTCTGAATGTAGTCCTCCATGGGAACACTAGTCCTCTTCCCCGCGGGCTGTCTCCTAGCAATCCTTAAAGCTGTGAAACCTGAGAGATAGAAAAAGAACCATTTTCGTCTCTGATCTCCCCACTCCAGAGCCAGACTTCATAGGAGCAGTCAGGGGACGTTCCATTTCCCAGATCCTACATTGCACCTTGTTACTGGGCCCTAAAGCTACACAGCTTGTGCCAGTGACTCACAGATATCCTTCGTCGGCTTCCGTCCTGCATAATCCCATGAACAGCTGCTCACATGCTTCTTATTTGGGCAGTTCAGCTTGTCCTCCTCGTGTGGCTAGGTGGATGTTACTCCCAACCCATCCCTTTACATCACCCGCCCCCCACCCCCTGCAATGTAACTAAATGGAGAAATACTGGTTTCCCATTAAAGGGGATTCAAAGCTATACTTGGACGCGAGCATCAGAAGTTCTAATATTTTCTTGGCACTTTCGCATCACTTCTAGCAACCCACAAATACTTCCTGTGTATTTAGTGTGTCCTACCACTCCACTATACAGGAGGCACACAAAACGTTCAAGACCGGGATACCTTTGGCAAGTTCCCAGTCCACTTGAGGAGATTAGGCTCATAGAAGTCAGCGAAGGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCTTGGCTAACACAGTGAAACCACGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGAAGCTTGCAGTGAGCCAAGATAGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAACAAACAAACAAAAACAGTCAGTGAGGGTGAAAGTCAGCCCCAAATTTCACAACATAAGGTAAAAGCTGTATTCCAGATCTATTTGTAAGTAGAACCTTAGAACAAAAACTCTTTCTGTAGTGATGATTGTTTTCTCAGATCAGCTCATAAAACCCTGCTCACCTGACAATTAGCTGAACCGTAGTTTTTAAAATGCTAGCAAATAAACAAAAAATAAAGCAGCTGTTTGACTCATCCTAAACACTTTTGGAAAAAGGAAATTGTTGAAGGAACCATCATTAACTGAGTGAATGAAGAAGAAGAGCTCAGTAGCAGCTTAGTGAGGATTTTTCTGGCTTTGTTTGGATTCTTAAGCTTTTTTGTGTCATGGACGTCTTTGGCAGTCTGGTGAGACCTACGGATTCTTTCTCAGAATAATGATTTTGACACGTCAAATAGAATGCATGAGATTACAAAGGGAAAAAATATATTGGAACACAATTCTGGTCCCAGATAAGAATCCCCAAGGGGCTGATTTCCCTTCAGAGGTTTGCTGGATACTGTAGTACTGGCCATTTGTGCCCTTGTTAGATACAATTAAGAGGATGGGAGATGGTTTGGAGAGGTTTCCCTGGGATAATTGGGCAGAACAAACTTCAGAGAGGAGTGAGATGAAGGAGTTAAAAGGGTATTTGTCTAAACCTCGAAAGCATTATGCTAAGTGAAAGTAACCAGACACAAAAGGTCACATATTGTAGGATTCATTTATAGTAAAATATCCAGAATAAGAAAATCCAAGGGGACAGAAAACATATTCATAGTTTCCACGAGCTGGGGGTAGACAGAAATTGCGGGGGCTGTTGAATGAGTATGGGATTTG 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AACACACACAGACACACATATACACACATGCTCCGGCCTTCCTGGGAAATCAAGTCTGCAGGTCAGGGCAGCGGTGCTTGTGTTATGGGTGTTTGTTTCTGCATAAAAAAATTACTCCAAAGCTTAGTGATTTTGTACAATAACCATTTCATAATATCTCACAAGTTTGTTGAGGGCAGGGCTCAGCTGGCCAGGTTTTCTGCTCCATGTGGCCATGACTGGGGTCACTTGGTACATTCAGCTGGTGGCCGGGCTGGAGGCCCCCGAGATGACTTCCTTCACATGCTGGGCATCTTGGCAGTGATGATTGGAAGGGAGGGTGCAGCTGGTCCTCTCTCCCTTCCTCAGGGCATTTCCACGCATTCCCTCTAGCAGGGTAGTCGGACGTCTTACACAGTAACTCAGGACATCAAGGACAAGTGTCCCAAGAGGCAGGAAGTGGAAAGTCCCAGTATCTGAAGGCCTGGGACTGAAAACTGGCACAACAGCACTTCCGCTGTACTCTATAGGTCAAAGCAGTCACAGATTAAAGGGCAGAGAGCACAGACAGCAACTCTTAATGACAGGAATGTCAAAGAATTTACAGCCTTTTAAATCTCCTATGGCTTGTATTTCTCATCCCATATATCAGCTAAGACTCTGCAAAGCAAGTCAAATGGATATGATTTCTCTTCAAGCTAGAGACTTTACAGCACCCTCCTCACCAGTGAAGGGAAGTACATTCCACACCTGTTGACATTTATTCCAGCCACCACTGAATTACACAGCAGAGCCAGATGTTTTAATCTGGGGAACAGTGAGTCATAGCGATCACTGAATGGAGCTGTGATGTAATGAAGACCTGCCATACCCAAATGTGTGTCTGTGCAGTTGTCACTGGACCAGCTTCTGTGTGGCTTTGAGATGATCCGTTTAGCTGAACAGTTCAGTTTAGAGATAGCAACTCTTGCCAATGTGCAAGAAGTCCTCCAGATCTCCTAGCTGGCCTGCCTTCCATTCACCTCCCTGCTTGGTTTCTGAACTTAGCGCAGCCTTCTCTGCCTGGCTGGAGCACTTTCTGAGTCAGTGCTCATGGGAGGCAGTGTAGCACTCTGCTCTAGGAGTCAGGATGTTCAGGCTCTGAAGCCACCCCTGTCTCTACCGACCTAGAGATTCTGGTGAGATATTTGGACTTTCTGACCTTTGTGTAATCTGAAAACAGGCATGTGAATGACTGGGTTGGCAAATCTCTAAGGTCTGTCCAGACTGTGACGTTCCATGATGTTATCATTAGAAGAAAAAATAAAGGGTGAGTCCTAACGCAGAAGCAAAGCTCCGCCATACCACTAACAGTCCTCTGTAGAAAGAATGGCTCTCCTCCCAGGGAGACTGTACCAACCCAAAGAGGGCTGGGGGGTCAGGACTTTGTACACACCCATGACCTTACCATGCTTCTCTGTGTCTCAATTAGCACATCTGTCTCCTCGCCCGCTGTGAATTATTTATGGTGCATGGACTTGATTTTGTTTATTTTCATTTCCCCAGCATTTGGAAAGGAGAAAGAAGTGGCTAATTTTCTAACATGTTCCACAGACCAGGTATTGTGCTAAATAATAAACATACATGATTATATTTCATCCTCTCAACAACCCTTTGATTAAGTGGTATCAGTCTCCACACACAGAAAGAGCAGAGTCAAACCCTGTCATCTTTCCATGGTTCATGTGATGCATGACACAGAATGGGGGCTTGTGTACTGAAAGCTTTGCTACAGGCAGCACAAATCCCCATTAACGGAAAGGGCCATATAAGTGATATTCTGCCTCTTCCCGCTATGAAGCGTGCAGCGGGCGCTCTCCATGATGGAATCACGGCTCTATCACCTACTGTGTAACACGCCTCCTCTCCTCTCTGGCTTTTGAAATGGTAGGTTGGAGGACTCGCTTCTGAAAACGTGAGGTGGGCAGATGCCGTGCAGAACTTCAAACAGCAGGAAAGGACGTTATGTGGAGACATTTTACTTATAACGGCTTTCATTTCCTACCTTGGCTTCTTCACAAAGAAATACCTGCAGAGCCTCCTGGACAGAACTTGGAGGCCCTACCTGAGCCAGCTGAAAGTACGTATGGCCTGAATTTCTCCCGACCACATCAGCCTCTGGGCACCAATGGGAAGACATCACGGTCATAATTCGCATCCTCTGGTGTCCTCCTGCACACTCATCCCCACCACCCCCTGAGCACCAGGTGTGAAACCTGCGTACCCGTGTCCTTCCACACTGCCTTGCATTGCTGCCCACTGCCCTCCAGGCCACCTGGGGGCAGCACCTCTCCTCTGAATGTAGTCCTCCATGGGAACACTAGTCCTCTTCCCCGCGGGCTGTCTCCTAGCAATCCTTAAAGCTGTGAAACCTGAGAGATAGAAAAAGAACCATTTTCGTCTCTGATCTCCCCACTCCAGAGCCAGACTTCATAGGAGCAGTCAGGGGACGTTCCATTTCCCAGATCCTACATTGCACCTTGTTACTGGGCCCTAAAGCTACACAGCTTGTGCCAGTGACTCACAGATATCCTTCGTCGGCTTCCGTCCTGCATAATCCCATGAACAGCTGCTCACATGCTTCTTATTTGGGCAGTTCAGCTTGTCCTCCTCGTGTGGCTAGGTGGATGTTACTCCCAACCCATCCCTTTACATCACCCGCCCCCCACCCCCTGCAATGTAACTAAATGGAGAAATACTGGTTTCCCATTAAAGGGGATTCAAAGCTATACTTGGACGCGAGCATCAGAAGTTCTAATATTTTCTTGGCACTTTCGCATCACTTCTAGCAACCCACAAATACTTCCTGTGTATTTAGTGTGTCCTACCACTCCACTATACAGGAGGCACACAAAACGTTCAAGACCGGGATACCTTTGGCAAGTTCCCAGTCCACTTGAGGAGATTAGGCTCATAGAAGTCAGCGAAGGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCTTGGCTAACACAGTGAAACCACGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGAAGCTTGCAGTGAGCCAAGATAGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAACAAACAAACAAAAACAGTCAGTGAGGGTGAAAGTCAGCCCCAAATTTCACAACATAAGGTAAAAGCTGTATTCCAGATCTATTTGTAAGTAGAACCTTAGAACAAAAACTCTTTCTGTAGTGATGATTGTTTTCTCAGATCAGCTCATAAAACCCTGCTCACCTGACAATTAGCTGAACCGTAGTTTTTAAAATGCTAGCAAATAAACAAAAAATAAAGCAGCTGTTTGACTCATCCTAAACACTTTTGGAAAAAGGAAATTGTTGAAGGAACCATCATTAACTGAGTGAATGAAGAAGAAGAGCTCAGTAGCAGCTTAGTGAGGATTTTTCTGGCTTTGTTTGGATTCTTAAGCTTTTTTGTGTCATGGACGTCTTTGGCAGTCTGGTGAGACCTACGGATTCTTTCTCAGAATAATGATTTTGACACGTCAAATAGAATGCATGAGATTACAAAGGGAAAAAATATATTGGAACACAATTCTGGTCCCAGATAAGAATCCCCAAGGGGCTGATTTCCCTTCAGAGGTTTGCTGGATACTGTAGTACTGGCCATTTGTGCCCTTGTTAGATACAATTAAGAGGATGGGAGATGGTTTGGAGAGGTTTCCCTGGGATAATTGGGCAGAACAAACTTCAGAGAGGAGTGAGATGAAGGAGTTAAAAGGGTATTTGTCTAAACCTCGAAAGCATTATGCTAAGTGAAAGTAACCAGACACAAAAGGTCACATATTGTAGGATTCATTTATAGTAAAATATCCAGAATAAGAAAATCCAAGGGGACAGAAAACATATTCATAGTTTCCACGAGCTGGGGGTAGACAGAAATTGCGGGGGCTGTTGAATGAGTATGGGATTTG 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Task1_train_23812 | A genomic change on Chromosome 17 affects DNAH9 (dynein axonemal heavy chain 9). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Ciliary dyskinesia, primary, 40 | ACCAGAATATATGGTAATGTTTTCCAACACGAACCCTGATTGTAACCTCACCCTAGCCAGCCCCGTATAAGAGAAGTTGTGTGCGAACCTTAAAAGCGACACTCTCATTTCAGGACACTCTGGAGATGTGTTCTCGGGAGACGGAGTTTAAGAGCATCCTCTTTGCTCTTTGTTACTTCCATGCGGTGGTGGCAGAAAGACGAAAATTTGGGCCCCAGGGATGGAATCGCTCATACCCCTTTAACACTGGAGACCTCACTATCTCTGTGAATGTCCTCTACAACTTCCTGGAGGCCAACGCAAAGGTAAAGGCCATGGACATTCAGGGACCAGCCAGGTTGGGAGAGGGTTAAAATTATTTAATTTTGAGGGGTGAATCAGAGGGGTCTAGGATGGGGCCTGAGAATGTGCATTTCTAACAAGCTCCCTCGTGATGCAGATGCTGCTGATTCGGGGACCATAATTTAAGAGTGTAACACATGGTCATGTTCCAAGCCCCACTCCCCATTACCTGACAGCCAGATTATTTGAAACCTTGATAGTACAAATCGGAGCCCATGCATCAACATCATTGGCAGGACCTGGGAGCTAGTTAGAAATGCAGAATCTCAGGTCCCACCCAAACTTACTGAATCAGCGCATTTTAACGAGATTCTCTGGTAATTCGTATGCACGTTAAGGAGGGATGATGCAGTGCTATCCTACAGAAGGGGCATGAGCACACAGAAGGGCTGCACCCCACACAGGTGGGATGAGGCAGTGCCAACCCCAGGACTAACCCAAAGGCTGAGAATAGTACAACTGTGAGGTGAGAGCCATGGACGCTCAGGAAGTCTAACTAGAGACTCACACAGTGAGTCAGTCCCATGAGAGTTTGTCCCGGGCCCCACCAGACCATACCTATGTCTTCACAGCATGGCAGGTAGACTGTGATCAGCAGGAAGAGACTTCACACTCGCCTGATATAAGTTCCCAAACTTCGCTAACAATCAGTGCTCTTCCAGTTAAGGGAATATTCACCTCGTCAAGGTTATTCTAGTTCAGGAGCCAAACACAGAGTCAACAGGGCCACCACCTCTTCCTCGTGGGGAAAACGAACCAGGCCCAGATGCCCTGAGAAATCCTTCTGTCTCCAGCCCTTGGGCCTGGGAAGCCCACTCAACAGTAATCTTTCATTGCTGGCTTTCCTCCAGTGACCTCCCTCCCTAAGTCTCACACCAATGAACTTGTGGGCTTTGTTTATTCCCTTTGAACTTTCAAAGGGGACAGTTAATCTTGTCATTAAAGGCAGAAAATTAGAAAAGTACTCTGGTCCTCACTTTTCTCCATTTGACATTCACCTATTTAAAGAATTTCTAGGTAGAGCCTGCCTTCACTGTCACAGTTAAAAAGCTTGAAAGAGGGAAGGCATATATATATGGGGCGTGGGGTTGGCAACTTTCCTGTCTTCACTCTTTGATGTAATTCTTCAAGCTTTTTTTTTTCTTCTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGACCTCAGCTCACCACAACCTCCGCCTCCCGGGTTCAAGAGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACACCCAGCTAATTTTGTATTTTTAGTAGCGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAATCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGCGCCCGGCCTTCTTCAGGCTTTTAATGAACTCCCCAAACACCCCTAACCCTGCTGGGCACTGAGGGTATGGAGAAAAATAAGACATTGCTCTCAATCTCAAGAAGCGTCCCTCTCTTGTGGCTTTCTGTGCTGCCCAGATGGGAGGCCAGCCCCGACGCCTGTGTGGAGGTCTTTCTTCCTTCCTCTCTTTCTTTCCCCCATCACTCAGGTCCCCTATGATGATTTGCGCTACCTGTTTGGAGAGATCATGTATGGAGGCCATATCACAGATGACTGGGACAGAAGACTCTGCAGAACCTACCTGGGGGAATTCATTCGACCAGAAATGTTAGAAGGAGAACTGTCTTTGGCCCCAGGGTTCCCACTCCCAGGCAACATGGACTACAATGGTTATCATCAGGTGAGACTCTGCTCTGTGCTTCTGATGTCGTGAGGGTGCTCACAGGGCCCTGGGTATTCCTCCCACGCCGACCTGCACCACCAGGGAAGCCTCTGCTGGGACATCACCATGGGCTGCAGGCAGGGGCTGAGGCAAAAGGGCTTAGACAGCTGAGCTCATGTCAAATCTGGTCCTATGCCCCAAGCCTGCCCTGTTTAAGTTGAGAGATACGGGATTTCTAGCCTCAAATTAATAATCAAATGGAGCCTTTGGAGATCTTTCGATTCTTGATGATTGGTTCAGTCATTCTGTGTGTTGCTGTTTTCTACAAATAACATCTGGGACAGTTATTTGGTTGTTTTCACTTGGGATGTTGACAAACCCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGGCGCCCAGGCTGGAGTGCAGTGGCGCTATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCAAGCCCGGCTAATTTTATTTTTGTATTTTTTTTAGTAGAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCCGCGCCTGGCCTGACAAAGCCGTTTTTCATGGAGCAAAATTTCAGGCAAGACCTTAGCCAACTTTTGGTAAAGTTTCTGTGGGTGATTCTAAATATCCCTGGAGGAGCATGGTCTTGTGCCAAGATCACTCAGGTCACTCACCCCTCCCACTCCGTGTTGGTGGCTATGAACACAGGCACATACCGCATACGTATGCCACAGTCAGCATTCTCATGAAGGCTTTCTTTTCTTTTCTTTTATGAGACGGAGTCTTGATCTGTCACCCAGGCTGGAATACAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCTATTCTCCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCCCCCACCACCACACCCGGTTTTTGTATTTTTTAGTGGAGACGGGGTTTCATCGTGTTGGCGAAGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCAGCACGCCCGGCCTCATGGAGGTTTTCTTACTATTACTTCGGTCTTTTATGTTACTATTACCACAGCTATGTTTAAAGTATTCATCTTTGCCTATTTCACCTTCCATGGAAAACATTCCAAAAGATTTTTTTTTTTTTTTTTTATAAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGGAATAGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGTCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCGAAAGATATTTTTTAGCAGTTTTTATTGGTAGGCTTTTGAACATGCCTAGAAAAACTCTTGAATATAAAACATAAGGGAAATATTGATCACAGGAATATTAACTGCAAGCTTTAAAAAAATTTCTTTAATTCATTAAACTTAAGGGTAAATCGTAAAAGTCATTTGATCCAGAAAAATTGGACCTATAAGAGGAGATTTAAAACAATAAAGCTCTTTAAGGAAAATAAGAGGAAATGTTTTTAACTACTTCACCAAAGGCAAAAAGGCTTTTCCCGGGAAAATTGTGCAACAGCGTCCCCTAGTGTCCATGGGATAATTCGA 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ACCAGAATATATGGTAATGTTTTCCAACACGAACCCTGATTGTAACCTCACCCTAGCCAGCCCCGTATAAGAGAAGTTGTGTGCGAACCTTAAAAGCGACACTCTCATTTCAGGACACTCTGGAGATGTGTTCTCGGGAGACGGAGTTTAAGAGCATCCTCTTTGCTCTTTGTTACTTCCATGCGGTGGTGGCAGAAAGACGAAAATTTGGGCCCCAGGGATGGAATCGCTCATACCCCTTTAACACTGGAGACCTCACTATCTCTGTGAATGTCCTCTACAACTTCCTGGAGGCCAACGCAAAGGTAAAGGCCATGGACATTCAGGGACCAGCCAGGTTGGGAGAGGGTTAAAATTATTTAATTTTGAGGGGTGAATCAGAGGGGTCTAGGATGGGGCCTGAGAATGTGCATTTCTAACAAGCTCCCTCGTGATGCAGATGCTGCTGATTCGGGGACCATAATTTAAGAGTGTAACACATGGTCATGTTCCAAGCCCCACTCCCCATTACCTGACAGCCAGATTATTTGAAACCTTGATAGTACAAATCGGAGCCCATGCATCAACATCATTGGCAGGACCTGGGAGCTAGTTAGAAATGCAGAATCTCAGGTCCCACCCAAACTTACTGAATCAGCGCATTTTAACGAGATTCTCTGGTAATTCGTATGCACGTTAAGGAGGGATGATGCAGTGCTATCCTACAGAAGGGGCATGAGCACACAGAAGGGCTGCACCCCACACAGGTGGGATGAGGCAGTGCCAACCCCAGGACTAACCCAAAGGCTGAGAATAGTACAACTGTGAGGTGAGAGCCATGGACGCTCAGGAAGTCTAACTAGAGACTCACACAGTGAGTCAGTCCCATGAGAGTTTGTCCCGGGCCCCACCAGACCATACCTATGTCTTCACAGCATGGCAGGTAGACTGTGATCAGCAGGAAGAGACTTCACACTCGCCTGATATAAGTTCCCAAACTTCGCTAACAATCAGTGCTCTTCCAGTTAAGGGAATATTCACCTCGTCAAGGTTATTCTAGTTCAGGAGCCAAACACAGAGTCAACAGGGCCACCACCTCTTCCTCGTGGGGAAAACGAACCAGGCCCAGATGCCCTGAGAAATCCTTCTGTCTCCAGCCCTTGGGCCTGGGAAGCCCACTCAACAGTAATCTTTCATTGCTGGCTTTCCTCCAGTGACCTCCCTCCCTAAGTCTCACACCAATGAACTTGTGGGCTTTGTTTATTCCCTTTGAACTTTCAAAGGGGACAGTTAATCTTGTCATTAAAGGCAGAAAATTAGAAAAGTACTCTGGTCCTCACTTTTCTCCATTTGACATTCACCTATTTAAAGAATTTCTAGGTAGAGCCTGCCTTCACTGTCACAGTTAAAAAGCTTGAAAGAGGGAAGGCATATATATATGGGGCGTGGGGTTGGCAACTTTCCTGTCTTCACTCTTTGATGTAATTCTTCAAGCTTTTTTTTTTCTTCTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGACCTCAGCTCACCACAACCTCCGCCTCCCGGGTTCAAGAGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACACCCAGCTAATTTTGTATTTTTAGTAGCGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAATCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGCGCCCGGCCTTCTTCAGGCTTTTAATGAACTCCCCAAACACCCCTAACCCTGCTGGGCACTGAGGGTATGGAGAAAAATAAGACATTGCTCTCAATCTCAAGAAGCGTCCCTCTCTTGTGGCTTTCTGTGCTGCCCAGATGGGAGGCCAGCCCCGACGCCTGTGTGGAGGTCTTTCTTCCTTCCTCTCTTTCTTTCCCCCATCACTCAGGTCCCCTATGATGATTTGCGCTACCTGTTTGGAGAGATCATGTATGGAGGCCATATCACAGATGACTGGAACAGAAGACTCTGCAGAACCTACCTGGGGGAATTCATTCGACCAGAAATGTTAGAAGGAGAACTGTCTTTGGCCCCAGGGTTCCCACTCCCAGGCAACATGGACTACAATGGTTATCATCAGGTGAGACTCTGCTCTGTGCTTCTGATGTCGTGAGGGTGCTCACAGGGCCCTGGGTATTCCTCCCACGCCGACCTGCACCACCAGGGAAGCCTCTGCTGGGACATCACCATGGGCTGCAGGCAGGGGCTGAGGCAAAAGGGCTTAGACAGCTGAGCTCATGTCAAATCTGGTCCTATGCCCCAAGCCTGCCCTGTTTAAGTTGAGAGATACGGGATTTCTAGCCTCAAATTAATAATCAAATGGAGCCTTTGGAGATCTTTCGATTCTTGATGATTGGTTCAGTCATTCTGTGTGTTGCTGTTTTCTACAAATAACATCTGGGACAGTTATTTGGTTGTTTTCACTTGGGATGTTGACAAACCCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGGCGCCCAGGCTGGAGTGCAGTGGCGCTATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCAAGCCCGGCTAATTTTATTTTTGTATTTTTTTTAGTAGAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCCGCGCCTGGCCTGACAAAGCCGTTTTTCATGGAGCAAAATTTCAGGCAAGACCTTAGCCAACTTTTGGTAAAGTTTCTGTGGGTGATTCTAAATATCCCTGGAGGAGCATGGTCTTGTGCCAAGATCACTCAGGTCACTCACCCCTCCCACTCCGTGTTGGTGGCTATGAACACAGGCACATACCGCATACGTATGCCACAGTCAGCATTCTCATGAAGGCTTTCTTTTCTTTTCTTTTATGAGACGGAGTCTTGATCTGTCACCCAGGCTGGAATACAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCTATTCTCCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCCCCCACCACCACACCCGGTTTTTGTATTTTTTAGTGGAGACGGGGTTTCATCGTGTTGGCGAAGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCAGCACGCCCGGCCTCATGGAGGTTTTCTTACTATTACTTCGGTCTTTTATGTTACTATTACCACAGCTATGTTTAAAGTATTCATCTTTGCCTATTTCACCTTCCATGGAAAACATTCCAAAAGATTTTTTTTTTTTTTTTTTATAAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGGAATAGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGTCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCGAAAGATATTTTTTAGCAGTTTTTATTGGTAGGCTTTTGAACATGCCTAGAAAAACTCTTGAATATAAAACATAAGGGAAATATTGATCACAGGAATATTAACTGCAAGCTTTAAAAAAATTTCTTTAATTCATTAAACTTAAGGGTAAATCGTAAAAGTCATTTGATCCAGAAAAATTGGACCTATAAGAGGAGATTTAAAACAATAAAGCTCTTTAAGGAAAATAAGAGGAAATGTTTTTAACTACTTCACCAAAGGCAAAAAGGCTTTTCCCGGGAAAATTGTGCAACAGCGTCCCCTAGTGTCCATGGGATAATTCGA 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Task1_train_23813 | Gene ELAC2 (elaC ribonuclease Z 2), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Combined oxidative phosphorylation defect type 17 | CCCTGGCCCTGGGTCTGCCTACTAGGATGACAACCAGAGACTCTGAGGGTGGGGACCTGAGTCTCCTGCCTCTGCTGACGTTTCCCTGCAAGCCCACCTGCATTCACCTCCAGCTACACAAACCCCAGAGCAACCTCAGGGTGGCTTGCTTCTTCCTCTACTCACCCATCCGGACCAGAGCCTCGCAGGGCATGGTGTCCCCGGAATAGACCACTTTCCAGCCAGAGGTGTGCACCAGCGCACAGCCAAACGCATGCTTGCAGTGCCGCACCAGACAGGTCTGAAACTGAAAGGGTGGGGCTGGAGGGCTCTGCAGCTCTGCTCCCCACCTCGCCCCCATGATGCCTGCGGCTGTGCCCCTTACCTCTTCCAAATCACATGTTCGCAACAGCGAACTGATCAATCTTTCCACTGCAGGACTGGAGATCTCAGCCCCTTCCTGAAGGCATTTGGCAGGAATCATACTGTAAAAAGACAAAACATTTAAAATGATAATAAACGTTTCTTGGACATCTGGAACCAAAGTTTAAGTCTTTGGCTGGAGAACCCCAAAATCATTCTTAGGAGAAAACATGAGTTAAATCATAGTCACTATGATGAGGAAACAGCAGTCAAATATAAAGAGCCAAACCAAAGCCTCTAGGCCACTGGGAGAAACCCAGCAGGTGAATGCTGCCTCCGGCTCAGGCAGCACGGGCCACGGATGGCTCCAGCAGAGGGGACTCCTTCCCCTTGGGGTGAGGATGGTGCCACCTGCCAGCTAGCCACACACCTGCTATGGACATTCTCTGTGCTAGCCACTATTTGGGTGCTTGGCTCTGGAACTGTCTCATCAAGAAAAGCTGCTCGAAGTTTAGAAAGCAGCTCAGAACTCAAATGAGGACTGGGAAGAAATGCTTCTAAGAAAATAAGCATTACATGGGAACTATCTAATGGTTTCTGTCCTTCAGCCAATGCACTTCTCCCCTGCTTCTGCCATCTGGGACCATGTCAAGGGCAAGGCTGCTGGGGGATATTGGTAACTACCCCAGTGTCCACCTTGAGCTTCTGAAGGAGACGGCAGCAAGCAACAGCCCAGCGGGCCAGGCTGCCCTGGATGCTCACCTGATGTGGTGCAGGACCTCCTGGCACTGGTTGTGGTACTGCTGGAGCCAGGCTTTGAGCTGGTTGGGGGCAACCACCAGCAAAGGGTGAAGCGGCTTTCCCAAAGATGCCTGGAACAAAAAATGCAAGTGCCGACTCGACGACAGAACATCTCAATAAAAACTGGAGTGCCAAGAGGCATGGCGGATGATGTGTAAACCGCTGAAACTCAGAACGCCCATCAAGTGCCACACTTACCAAGGCGCGTTCTCTCTGCAGCAAGATACTTGGCAAGCCCTGGCAAGGAAACAGGAGACATGCGTCAGCCAGGCCCCAGGGCCATCCCCTCCGGGTTAGGGTCTGCAGCCCTCTCTCTTGCAGGAGTTGCCAGCCCGACGTCACCCACCAGCCTCTAACACAGCCGCAGTGGGGGTGGCACAGGCCGAGCCCCCTGCGCCATGGCCCTGAAATGTCACAGGCAGAAAGCGACACGACCCGTGCTGGGAAGAGGGCAACGGCCCAGGGCCCGGCACCCCAGGAGACCAAGGTGAGGGTCTCATAGCCACACCTCCTGCATCCGGTCAAAGCTTCCGCTGAGCAGGCCGTGTGAGATTCAAGACTCAAGGAAGGCTGGGTAAACTCAAACCTGTCCTGCTGCAGGAAAGGAACTGAACAGGAAGAGAAGACATTCTTGTGGCGCAGAAGGACTATGTTGAGTTTTGCAAAAAACCATTTCCTAGCCAGAGATGAGTAACAAAAGCTCTGGGCAAGTTTGGAAGCGGAGGAAAAGACGCAGCCAAAGGGCCAACTCAACGTGGCAGTGCCTCCTCCAGGCTCCAGCTTTGTGGTCCAGCCCAACACTCACCGTGTGGTGATCTGCGTGCAGGTGGGACACAAACACAGCAGCCAGGGTGCCCAGGACCCTGTCCACCTGGTCTCCGTAATGACGGCACAGCTGCCCAAATGTGCCCTCACCACAGTCCAGTAGCAGAGACGTGTCGGGGCTGCAGAAGAGAAGAGGAAGAGAGTCACTGCCACTAGGAAGACTGCTGATGGTTCAGAGGCTGATGTCTGCTTTGGACAGGACCAAGAAGCAACTGCAGAAATTTCTGTCTCTCCTGCTTTGCTTTGAGGAGCTAATATAAAAGCCAATTAATTTAACCATAAAGGTGATTTTACATGTGTCATCCTCTTTATAGCAAAGAAGTATCCATGGAACCCTGAAACCCTTTCAAGTAGACTTACACAAAGGCTGGGCATCAAAAAAAAAAAAAAAAAGTTTATAGGAGGCTTAAAGCATTTAGTCCTAACAATGAATCTGACCATGCAGATTGACTGTGGCCACAGCCTCTGTTGAAAATACCAGGACAGGCACTGGGCCATATGAGACTCTTTCTAGGTCCAGCTGCCATCGGACTTTTCCCCCTTTGCAAGTGGTCGGGGTTTCCTCAGCTCATGTCCTCAAAGACACCTGGTGCAGGGCGGGCTGCAGGTGCTTCATTCAGGGAGCCAGTTAACGCAGACTCCCAGGTGTCACTCGGGGTTTCTGACTTGGTTTTAGGCAGGGCTCTGGAAGTCTGGATTCTGACAAACTTCTTGGGCTATTCTGCTGTGCAGTCCATTTCAGAAGCTCTGCTCCAAGGCAGAGAGAGTGCTGACCCGCTCTGGCCTCCTTCATTCTCTGGGAGGAGCCACGAACACTGAGAGGGCTGCACCCATTTTGCAGAGAGAAGCCCCGGTGCTAAGACATTACCTTCTGGGGGAAAAAGGAGTCGGGAGGCGGAGGCAAGGTGGCAATAGCACCTTCCCATTAGCTTCAGCTGGTTCAAAAGCTGCTCGCAGGGTGTCAGGTCAAACTCAAAAAGCCCTTCTTCCCCCAGGATCTCAGCCCCCGGGAGAGGCCGGCTCACTCCAAGCTGCTTTATTGCATGTCCTCATCCACAGAGAAACACACCCCAGATTGTATATTTCTGATGTCAGGGCACATCTCGTCACTGCTGTATATATTTAATGCACTATTTGGTTGTTTATCATCCACCACTAGCATGTAAGATGGCAGAGCAAAATTTAAAACAAACCTGGTAATTCACAATCTTATTTTCTTCACATACTATCTGTAGAGATAACGTGTACATGTCACAACGCATTTGACTAATCTCTCTGCTGATGACCCCAGGCAAACCCAAGAGAATCAACTAAAAAACATGTCAAGGGGAATCCAATAAAGGTTCTGAACACAAATGTGCAAAACCCTAAAGCTTTTTAACATACTACCAACAAATGGCTGGGGGACAATACCATGTAGCAATCAAGACCCCAAGTCCCCGCTCAAACTTCAGATGCCCCACTTACCAGCTGTAGGAACCATAGCAAGTCACCTCTCTGAATATCAGGTCACTCATCAACAAAATGGGTAGTTATTCACCACTTCATAGGATTAATGTAAAAATTAAAGGAGCTAATTTCTTAGCTAGGTGTACTGCCCACAGTAAAATCAGCTGTTTATTAAAAGACATCATGGGATGAATTTTGGTGATTCCCAGGGTAAAGTTTGCTACTGAGGCTATAAAATGCAGTAAGGCCACGCTCCTCTCCTGGACACTCCAGTCGACATGACAAGTGACAGGGCTTGATACCGCATTTCAAATCGACTGGTGAGTACAGCAGGACTTTTGTTTAAAAAGTAAACGTGCCCTTGATGGAAGGATGCTTCCTGGGAAAGCAGCATACCTTATGTTGACAAGTGTGGCACTGACATTTCGAATCTTCATCGGGATGGCAGACCCTGTTCCAAGGAAGATGATTTCTGGGTACTGACTTCTTTTCTCTGTGAAAAAATCCATGTGAAACAATCCATTCCTTTGGGTCAAAAGTGAGCCAGCATGCAGCCATGAGAAGGTGCAATGGTTTGAGTGTCATTGGTTTGTCCCCAGACCTCATGTGGAAACGTGCTCCCTAGTATGGCGGTTTTGGGAGGCGGGGCCTAGTGGAAGGCGTTTGGGCTACAGGGACG 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CCCTGGCCCTGGGTCTGCCTACTAGGATGACAACCAGAGACTCTGAGGGTGGGGACCTGAGTCTCCTGCCTCTGCTGACGTTTCCCTGCAAGCCCACCTGCATTCACCTCCAGCTACACAAACCCCAGAGCAACCTCAGGGTGGCTTGCTTCTTCCTCTACTCACCCATCCGGACCAGAGCCTCGCAGGGCATGGTGTCCCCGGAATAGACCACTTTCCAGCCAGAGGTGTGCACCAGCGCACAGCCAAACGCATGCTTGCAGTGCCGCACCAGACAGGTCTGAAACTGAAAGGGTGGGGCTGGAGGGCTCTGCAGCTCTGCTCCCCACCTCGCCCCCATGATGCCTGCGGCTGTGCCCCTTACCTCTTCCAAATCACATGTTCGCAACAGCGAACTGATCAATCTTTCCACTGCAGGACTGGAGATCTCAGCCCCTTCCTGAAGGCATTTGGCAGGAATCATACTGTAAAAAGACAAAACATTTAAAATGATAATAAACGTTTCTTGGACATCTGGAACCAAAGTTTAAGTCTTTGGCTGGAGAACCCCAAAATCATTCTTAGGAGAAAACATGAGTTAAATCATAGTCACTATGATGAGGAAACAGCAGTCAAATATAAAGAGCCAAACCAAAGCCTCTAGGCCACTGGGAGAAACCCAGCAGGTGAATGCTGCCTCCGGCTCAGGCAGCACGGGCCACGGATGGCTCCAGCAGAGGGGACTCCTTCCCCTTGGGGTGAGGATGGTGCCACCTGCCAGCTAGCCACACACCTGCTATGGACATTCTCTGTGCTAGCCACTATTTGGGTGCTTGGCTCTGGAACTGTCTCATCAAGAAAAGCTGCTCGAAGTTTAGAAAGCAGCTCAGAACTCAAATGAGGACTGGGAAGAAATGCTTCTAAGAAAATAAGCATTACATGGGAACTATCTAATGGTTTCTGTCCTTCAGCCAATGCACTTCTCCCCTGCTTCTGCCATCTGGGACCATGTCAAGGGCAAGGCTGCTGGGGGATATTGGTAACTACCCCAGTGTCCACCTTGAGCTTCTGAAGGAGACGGCAGCAAGCAACAGCCCAGCGGGCCAGGCTGCCCTGGATGCTCACCTGATGTGGTGCAGGACCTCCTGGCACTGGTTGTGGTACTGCTGGAGCCAGGCTTTGAGCTGGTTGGGGGCAACCACCAGCAAAGGGTGAAGCGGCTTTCCCAAAGATGCCTGGAACAAAAAATGCAAGTGCCGACTCGACGACAGAACATCTCAATAAAAACTGGAGTGCCAAGAGGCATGGCGGATGATGTGTAAACCGCTGAAACTCAGAACGCCCATCAAGTGCCACACTTACCAAGGCGCGTTCTCTCTGCAGCAAGATACTTGGCAAGCCCTGGCAAGGAAACAGGAGACATGCGTCAGCCAGGCCCCAGGGCCATCCCCTCCGGGTTAGGGTCTGCAGCCCTCTCTCTTGCAGGAGTTGCCAGCCCGACGTCACCCACCAGCCTCTAACACAGCCGCAGTGGGGGTGGCACAGGCCGAGCCCCCTGCGCCATGGCCCTGAAATGTCACAGGCAGAAAGCGACACGACCCGTGCTGGGAAGAGGGCAACGGCCCAGGGCCCGGCACCCCAGGAGACCAAGGTGAGGGTCTCATAGCCACACCTCCTGCATCCGGTCAAAGCTTCCGCTGAGCAGGCCGTGTGAGATTCAAGACTCAAGGAAGGCTGGGTAAACTCAAACCTGTCCTGCTGCAGGAAAGGAACTGAACAGGAAGAGAAGACATTCTTGTGGCGCAGAAGGACTATGTTGAGTTTTGCAAAAAACCATTTCCTAGCCAGAGATGAGTAACAAAAGCTCTGGGCAAGTTTGGAAGCGGAGGAAAAGACGCAGCCAAAGGGCCAACTCAACGTGGCAGTGCCTCCTCCAGGCTCCAGCTTTGTGGTCCAGCCCAACACTCACCGTGTGGTGATCTGCGTGCAGGTGGGACACAAACACAGCAGCCAGGGTGCCCAGGACCCTGTCCACCTGGTCTCCGTAATGACGGCACAGCTGCCCAAATATGCCCTCACCACAGTCCAGTAGCAGAGACGTGTCGGGGCTGCAGAAGAGAAGAGGAAGAGAGTCACTGCCACTAGGAAGACTGCTGATGGTTCAGAGGCTGATGTCTGCTTTGGACAGGACCAAGAAGCAACTGCAGAAATTTCTGTCTCTCCTGCTTTGCTTTGAGGAGCTAATATAAAAGCCAATTAATTTAACCATAAAGGTGATTTTACATGTGTCATCCTCTTTATAGCAAAGAAGTATCCATGGAACCCTGAAACCCTTTCAAGTAGACTTACACAAAGGCTGGGCATCAAAAAAAAAAAAAAAAAGTTTATAGGAGGCTTAAAGCATTTAGTCCTAACAATGAATCTGACCATGCAGATTGACTGTGGCCACAGCCTCTGTTGAAAATACCAGGACAGGCACTGGGCCATATGAGACTCTTTCTAGGTCCAGCTGCCATCGGACTTTTCCCCCTTTGCAAGTGGTCGGGGTTTCCTCAGCTCATGTCCTCAAAGACACCTGGTGCAGGGCGGGCTGCAGGTGCTTCATTCAGGGAGCCAGTTAACGCAGACTCCCAGGTGTCACTCGGGGTTTCTGACTTGGTTTTAGGCAGGGCTCTGGAAGTCTGGATTCTGACAAACTTCTTGGGCTATTCTGCTGTGCAGTCCATTTCAGAAGCTCTGCTCCAAGGCAGAGAGAGTGCTGACCCGCTCTGGCCTCCTTCATTCTCTGGGAGGAGCCACGAACACTGAGAGGGCTGCACCCATTTTGCAGAGAGAAGCCCCGGTGCTAAGACATTACCTTCTGGGGGAAAAAGGAGTCGGGAGGCGGAGGCAAGGTGGCAATAGCACCTTCCCATTAGCTTCAGCTGGTTCAAAAGCTGCTCGCAGGGTGTCAGGTCAAACTCAAAAAGCCCTTCTTCCCCCAGGATCTCAGCCCCCGGGAGAGGCCGGCTCACTCCAAGCTGCTTTATTGCATGTCCTCATCCACAGAGAAACACACCCCAGATTGTATATTTCTGATGTCAGGGCACATCTCGTCACTGCTGTATATATTTAATGCACTATTTGGTTGTTTATCATCCACCACTAGCATGTAAGATGGCAGAGCAAAATTTAAAACAAACCTGGTAATTCACAATCTTATTTTCTTCACATACTATCTGTAGAGATAACGTGTACATGTCACAACGCATTTGACTAATCTCTCTGCTGATGACCCCAGGCAAACCCAAGAGAATCAACTAAAAAACATGTCAAGGGGAATCCAATAAAGGTTCTGAACACAAATGTGCAAAACCCTAAAGCTTTTTAACATACTACCAACAAATGGCTGGGGGACAATACCATGTAGCAATCAAGACCCCAAGTCCCCGCTCAAACTTCAGATGCCCCACTTACCAGCTGTAGGAACCATAGCAAGTCACCTCTCTGAATATCAGGTCACTCATCAACAAAATGGGTAGTTATTCACCACTTCATAGGATTAATGTAAAAATTAAAGGAGCTAATTTCTTAGCTAGGTGTACTGCCCACAGTAAAATCAGCTGTTTATTAAAAGACATCATGGGATGAATTTTGGTGATTCCCAGGGTAAAGTTTGCTACTGAGGCTATAAAATGCAGTAAGGCCACGCTCCTCTCCTGGACACTCCAGTCGACATGACAAGTGACAGGGCTTGATACCGCATTTCAAATCGACTGGTGAGTACAGCAGGACTTTTGTTTAAAAAGTAAACGTGCCCTTGATGGAAGGATGCTTCCTGGGAAAGCAGCATACCTTATGTTGACAAGTGTGGCACTGACATTTCGAATCTTCATCGGGATGGCAGACCCTGTTCCAAGGAAGATGATTTCTGGGTACTGACTTCTTTTCTCTGTGAAAAAATCCATGTGAAACAATCCATTCCTTTGGGTCAAAAGTGAGCCAGCATGCAGCCATGAGAAGGTGCAATGGTTTGAGTGTCATTGGTTTGTCCCCAGACCTCATGTGGAAACGTGCTCCCTAGTATGGCGGTTTTGGGAGGCGGGGCCTAGTGGAAGGCGTTTGGGCTACAGGGACG 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Task1_train_23814 | The gene ELAC2 (elaC ribonuclease Z 2) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Combined oxidative phosphorylation defect type 17 | ATAATGGCATCCCTGCAGGAAGAGAGAGAAGCATCTCAGGTGACGGACAGGGTATATGGCCTCAGCAGACCCCATTGGGGATGTCCAGAATAAATTCAGGGGGACAATCTGCAGGAAGTTCCTTCAGATCAACACTGAAGGTTAAGTGACTAGGATCTGGGGCAGGTCTGCTCCACCGCCTTTTGGATGCTGCATCGCTCTGCCTCAGGGCCAGTCAACGGGGAACTACTGATGCTCAGGGCAAGACAGTTTTTTTCTGTGGCCAGTGCTGCTGTCCTGGTGCAGTACCCCTGACCTCTACCCACTAGCAGCACCACTACCCACCTCCTAGGCTGTGACAACCAAGAACGTTTCCAGATGTTGCCAAATGTCCTCTGAGGGGTCAATGGTCCGAGCTGAGAAGCAGGGGCCCTAGAGGAGTGACTCTGAAACTCATGTTCACACCCAGGAACCTTGGCAAAACGCAGAAGCCAGTTCGGCAGCTCTGCAGTGAGGCCTGAGATCCCACTTTCCTAGCAAGCCCCAGATCACACGGAGTGGCAACTCCTTGGACAGGCGGCTCTTCAACCTCGCTGAGCATTAAAATCATCTGGGAGCTTGTGAGTCCCAAGCCTAACTCTCAAGATTCTAATTCACTAGGTCTAGGGCAGGCCCTGTGCAATATTTTTCACAAGCACAAGGTAAATCTGAATGTCGGCTAGGGCTGTGTATCGCTGCTGTGTGTTAAGAGCCTGCGCAGATGCCAACAAAGGGACACCAGGTTCTTCAACCCCGTGATGTTGCCTGTGGGCCCGAGTCTTGCTAGTATAGTCTCTTAAAGGGCCCCAACTACCCAACCTCAACAGCACACAGCATCCAGTCATAATCCAGCACATGCTCTATTCTAATACAAATACTGTGGAGTGGGCAGGAAACTTAAAATCAAGGTTCAGATCCTTAAAAATTAAAACAGGCCGGGCACGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGCCAACATGGTGAAACCCGTCTCTGCTAAAATTACAAAAAATTAGCCGGGCGTGGTAGCAGGCGCCTGTAATTCCAGCTATTCGGGAGGCTGGGGCAGGAGAAATGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAATAAATAAATAAATAAAATAAATAAATTAATTAATTAAAATAAAGATGTGGGGCAGTAAGGCTGTTCACTTTCCTGGTTGGATTGTACTGGAAGAGGCTTTCAAGATGGCATCTTACATTTATCAAGTACCTTAACAAGTCTCACACTCTGGGCCAGTAATCCCACATTTAGGAATGACTTGAAGGGAACAGAGTTCCCATCAAAGATTTATATATAAGACATTTATTGTTTCATTCATTAAAAACAACAAAAAATTGGAAACATCCCAAATGAGTAAACATCCCTATTTGGAATACCAATAAAAATCTTGTTACTTAAGACTGTTTAGTGATACAGGAAAAGACTGACAATATAAACCCACATACACAAATCAAGAAACACAAAATGTTATCAATCATTATCTCTGGGCAACAGGATTATGGGTGACTTTGTTCATCACACATTTCCTATTTTCTATACTGTGAAACACACGAGCTCTATCACTGCTATTCCCATGCAAGGCAATTTTGGAAAAGGAGAACTACTGGCCCCAATCCGCCCACCTCAACCCAGCCTGGAGTAGGCTGCTTTTCTAAATAAATTCACGCTGGCACACAGCCAAGCCCATTCATTAGCTTATTGTCCGTGTTTCTTTTGTGCTCAAAGCGGAGTTGAATAGTTACAACAGAGACCATATGGTCTGGAGAGCCTCCTGGAACATTTACTATGTGGCTATTTACAGAAATGTTTCCCAACTCGACTGAGACGATTCCATTAGTTCAAGATGGCACAGACCTCTGCCACTCCCTCCTGGGACGGAGCTGGTACTTGAGGAGGCATTCACCCTGAACCATGGGCACACTGAGGGTGGGGCCCTCCTTCTGAAAGAGACAAAACACATTCATGGAGAGAAAGAGAGGGGACGAGAGCTGGGCCGACAAGGGGCCGGTCTGAGACACTACCTTACAGCGGAAACTGGTGAGCAGGGGGAAGATGTCCGGGTGGATGAGGTTGAGCTGGGTTTGAATCTTGTGGCTGCGAAGGTTGTGAACTGAGGCACAGTTCTCATTCAGGACCAAGTGCTGGGTGTCAGGCCCAAACCTGTGAAGAAACAGACCCGGCATTTGCAGCGTCTGTTAGGAGGCAGCTCCCCCTGAGGAGTGGTGCTGAGCTCAGGAGTGGTAATGAGGATGAGGTGTTCAAACAGTTCAGTGACTTGCCCCAAGCAGTGTTACTACATGGCCAAACATGGTCCCACTCCTGCTGTCTCAAAGCCCGGTGTTCCCTAGCTCAGCTGCCTTTCAGGTGTGCTGGGAAGAGTGAGAGGAAAAACAAGAAAAAGAAGATGTCCAGGGCATACAAATAGGGGACCCAAACCCTGAGGAATGAAAGAGACAGCAGGAGAGCAGGCCATGGAGTGAGGGGCAGGTAAACGGGCCATGTGGGGAGATACGGGCAGGGGCCAAAAAGCAGCCCAAGGTCACCCCGCACCCGAGCTCAACTCATACTCCTCCACCTGGCCCTGGCCAGCGATGCCCCGAGGAAAAAGATGCCTTCCAGTGACTAAACATCTACCTCCCAGGGCTGCTGGCGACGACCCTAGAGGAAATGAAGTGAAATGAAGGGTATTTCACACACTGCCTCCCACAAAGTGGGCATTCAGTAAATGGAAGCTATCATTTTATAGCTGCAATCTCTTCTTTGGAATTCACTTATGGAATCCTCAACCAAACGGCAGTATTTGTTCAGACACCCTGAAGAGTGTGGAGGGTGTAAAATAAATGGAATCGTGTGGACACTGCGCCACCTAGCGGTGCATTTTCTTCACGAGTGTAGCACAGATCTGGGAAGCCTAGAATTCTGGGAAGGCAGGAATCCCACAGAAAGTTTAGGCAGGTGCAGAAGGGTAGGTAGCGCTGGAAAGAGCACGAGGGGAGGAAAGGGGAATCCACCACTGCCCAGAAGAGTTACCCCAAGTGCCGCTGGGCTGGGCTCCATACCTCTCCATCCACTGCTGGTACCTGCTGTCCACAAGCACAGATGCTGGGGCCATGTGAACCACCAAGGCCACGGGGGCATCTGCCTTTCCTTGGTACCTGGGCAGAAGAGTGGGGCTTTACAAAGTGATGCAGACTCAGGACACACCAAGACAGGGACCACGCAGCCAGGGAGGGGTATCGTGCGGCCCTCTGCAGCACTGCAGTGAGCTGACAGCCTCCACGCCCAGGCCATGCTCTCACAGCAGGCTGCTCACGGCAGACCCCGGTGCTGGGCCATTTCCAATGGACGTGGGATTCCTGTATCTGGCAAGCTCTGCTCTGGGCTTTCCAGTAGGCCTGGCTGATCCTTTCTCAGCACTGCACTTCCTTCCTACCCTCTCCACTCATACGGGTCCAACCTGCAAAGCCAGACCCAGGCTCTCCCTGCCTCCTCCTGCTCCCTCTCTCCTTCCTCTCTCACAGTCAAATTTCCTCGAATAAACCTCCTGCACCTCCAATGCCACCCTGGTGTCTGCCTTCCAGAGGACCTGAGACACAGGCACGAGAAATGAAAATCATCTGAAATTTCACCACCTGGACAACAGACCACTTACTAACATGCTGATGTGTTTCCCTCCAGTTCCCTTTAAAAAGAAATATACACAGTAGCTATTTTTATCTATCCCAGCATCATCACACATCCACACATGGCTCTCAAATGACACCTGATTCATTGAAGAGGTTTTGCTGCCCAAAACTGGATTAAAATACAAAGCCGGGGCTACCAGCGCATCCAAATTCACCCACAGAGAATAAAGCAGACCATGAAACAACTCCTAACGCTCTGACTCGGAAGGGGTACAGCAGCCCAAAAGGATTTGTTGTGGTAAGTAGAAAAAAA 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ATAATGGCATCCCTGCAGGAAGAGAGAGAAGCATCTCAGGTGACGGACAGGGTATATGGCCTCAGCAGACCCCATTGGGGATGTCCAGAATAAATTCAGGGGGACAATCTGCAGGAAGTTCCTTCAGATCAACACTGAAGGTTAAGTGACTAGGATCTGGGGCAGGTCTGCTCCACCGCCTTTTGGATGCTGCATCGCTCTGCCTCAGGGCCAGTCAACGGGGAACTACTGATGCTCAGGGCAAGACAGTTTTTTTCTGTGGCCAGTGCTGCTGTCCTGGTGCAGTACCCCTGACCTCTACCCACTAGCAGCACCACTACCCACCTCCTAGGCTGTGACAACCAAGAACGTTTCCAGATGTTGCCAAATGTCCTCTGAGGGGTCAATGGTCCGAGCTGAGAAGCAGGGGCCCTAGAGGAGTGACTCTGAAACTCATGTTCACACCCAGGAACCTTGGCAAAACGCAGAAGCCAGTTCGGCAGCTCTGCAGTGAGGCCTGAGATCCCACTTTCCTAGCAAGCCCCAGATCACACGGAGTGGCAACTCCTTGGACAGGCGGCTCTTCAACCTCGCTGAGCATTAAAATCATCTGGGAGCTTGTGAGTCCCAAGCCTAACTCTCAAGATTCTAATTCACTAGGTCTAGGGCAGGCCCTGTGCAATATTTTTCACAAGCACAAGGTAAATCTGAATGTCGGCTAGGGCTGTGTATCGCTGCTGTGTGTTAAGAGCCTGCGCAGATGCCAACAAAGGGACACCAGGTTCTTCAACCCCGTGATGTTGCCTGTGGGCCCGAGTCTTGCTAGTATAGTCTCTTAAAGGGCCCCAACTACCCAACCTCAACAGCACACAGCATCCAGTCATAATCCAGCACATGCTCTATTCTAATACAAATACTGTGGAGTGGGCAGGAAACTTAAAATCAAGGTTCAGATCCTTAAAAATTAAAACAGGCCGGGCACGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGCCAACATGGTGAAACCCGTCTCTGCTAAAATTACAAAAAATTAGCCGGGCGTGGTAGCAGGCGCCTGTAATTCCAGCTATTCGGGAGGCTGGGGCAGGAGAAATGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAATAAATAAATAAATAAAATAAATAAATTAATTAATTAAAATAAAGATGTGGGGCAGTAAGGCTGTTCACTTTCCTGGTTGGATTGTACTGGAAGAGGCTTTCAAGATGGCATCTTACATTTATCAAGTACCTTAACAAGTCTCACACTCTGGGCCAGTAATCCCACATTTAGGAATGACTTGAAGGGAACAGAGTTCCCATCAAAGATTTATATATAAGACATTTATTGTTTCATTCATTAAAAACAACAAAAAATTGGAAACATCCCAAATGAGTAAACATCCCTATTTGGAATACCAATAAAAATCTTGTTACTTAAGACTGTTTAGTGATACAGGAAAAGACTGACAATATAAACCCACATACACAAATCAAGAAACACAAAATGTTATCAATCATTATCTCTGGGCAACAGGATTATGGGTGACTTTGTTCATCACACATTTCCTATTTTCTATACTGTGAAACACACGAGCTCTATCACTGCTATTCCCATGCAAGGCAATTTTGGAAAAGGAGAACTACTGGCCCCAATCCGCCCACCTCAACCCAGCCTGGAGTAGGCTGCTTTTCTAAATAAATTCACGCTGGCACACAGCCAAGCCCATTCATTAGCTTATTGTCCGTGTTTCTTTTGTGCTCAAAGCGGAGTTGAATAGTTACAACAGAGACCATATGGTCTGGAGAGCCTCCTGGAACATTTACTATGTGGCTATTTACAGAAATGTTTCCCAACTCGACTGAGACGATTCCATTAGTTCAAGATGGCACAGACCTCTGCCACTCCCTCCTGGGACGGAGCTGGTACTTGAAGAGGCATTCACCCTGAACCATGGGCACACTGAGGGTGGGGCCCTCCTTCTGAAAGAGACAAAACACATTCATGGAGAGAAAGAGAGGGGACGAGAGCTGGGCCGACAAGGGGCCGGTCTGAGACACTACCTTACAGCGGAAACTGGTGAGCAGGGGGAAGATGTCCGGGTGGATGAGGTTGAGCTGGGTTTGAATCTTGTGGCTGCGAAGGTTGTGAACTGAGGCACAGTTCTCATTCAGGACCAAGTGCTGGGTGTCAGGCCCAAACCTGTGAAGAAACAGACCCGGCATTTGCAGCGTCTGTTAGGAGGCAGCTCCCCCTGAGGAGTGGTGCTGAGCTCAGGAGTGGTAATGAGGATGAGGTGTTCAAACAGTTCAGTGACTTGCCCCAAGCAGTGTTACTACATGGCCAAACATGGTCCCACTCCTGCTGTCTCAAAGCCCGGTGTTCCCTAGCTCAGCTGCCTTTCAGGTGTGCTGGGAAGAGTGAGAGGAAAAACAAGAAAAAGAAGATGTCCAGGGCATACAAATAGGGGACCCAAACCCTGAGGAATGAAAGAGACAGCAGGAGAGCAGGCCATGGAGTGAGGGGCAGGTAAACGGGCCATGTGGGGAGATACGGGCAGGGGCCAAAAAGCAGCCCAAGGTCACCCCGCACCCGAGCTCAACTCATACTCCTCCACCTGGCCCTGGCCAGCGATGCCCCGAGGAAAAAGATGCCTTCCAGTGACTAAACATCTACCTCCCAGGGCTGCTGGCGACGACCCTAGAGGAAATGAAGTGAAATGAAGGGTATTTCACACACTGCCTCCCACAAAGTGGGCATTCAGTAAATGGAAGCTATCATTTTATAGCTGCAATCTCTTCTTTGGAATTCACTTATGGAATCCTCAACCAAACGGCAGTATTTGTTCAGACACCCTGAAGAGTGTGGAGGGTGTAAAATAAATGGAATCGTGTGGACACTGCGCCACCTAGCGGTGCATTTTCTTCACGAGTGTAGCACAGATCTGGGAAGCCTAGAATTCTGGGAAGGCAGGAATCCCACAGAAAGTTTAGGCAGGTGCAGAAGGGTAGGTAGCGCTGGAAAGAGCACGAGGGGAGGAAAGGGGAATCCACCACTGCCCAGAAGAGTTACCCCAAGTGCCGCTGGGCTGGGCTCCATACCTCTCCATCCACTGCTGGTACCTGCTGTCCACAAGCACAGATGCTGGGGCCATGTGAACCACCAAGGCCACGGGGGCATCTGCCTTTCCTTGGTACCTGGGCAGAAGAGTGGGGCTTTACAAAGTGATGCAGACTCAGGACACACCAAGACAGGGACCACGCAGCCAGGGAGGGGTATCGTGCGGCCCTCTGCAGCACTGCAGTGAGCTGACAGCCTCCACGCCCAGGCCATGCTCTCACAGCAGGCTGCTCACGGCAGACCCCGGTGCTGGGCCATTTCCAATGGACGTGGGATTCCTGTATCTGGCAAGCTCTGCTCTGGGCTTTCCAGTAGGCCTGGCTGATCCTTTCTCAGCACTGCACTTCCTTCCTACCCTCTCCACTCATACGGGTCCAACCTGCAAAGCCAGACCCAGGCTCTCCCTGCCTCCTCCTGCTCCCTCTCTCCTTCCTCTCTCACAGTCAAATTTCCTCGAATAAACCTCCTGCACCTCCAATGCCACCCTGGTGTCTGCCTTCCAGAGGACCTGAGACACAGGCACGAGAAATGAAAATCATCTGAAATTTCACCACCTGGACAACAGACCACTTACTAACATGCTGATGTGTTTCCCTCCAGTTCCCTTTAAAAAGAAATATACACAGTAGCTATTTTTATCTATCCCAGCATCATCACACATCCACACATGGCTCTCAAATGACACCTGATTCATTGAAGAGGTTTTGCTGCCCAAAACTGGATTAAAATACAAAGCCGGGGCTACCAGCGCATCCAAATTCACCCACAGAGAATAAAGCAGACCATGAAACAACTCCTAACGCTCTGACTCGGAAGGGGTACAGCAGCCCAAAAGGATTTGTTGTGGTAAGTAGAAAAAAA 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Task1_train_23815 | A change on Chromosome 17 affects gene ELAC2 (elaC ribonuclease Z 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Combined oxidative phosphorylation defect type 17 | CAGGAGGAGCAAGCCAGGCAATGGGAGTGCTGATCAGCTCATCACAGCACTGGCCTAGGAGCACTTGTGCCATTGCTCCGGCACATTCCTCTCCTCCCTGCTGCCTTCTGCCTTCAGTCAGTGTAAGCCTCATCTCCTCGCCAGGTTCTGGACTTCTCTGGCCTTTGCTGGGTGCTCTGGTCTGTCACCCATCAGCACTACTTAGTAAGCATCACATTAGTTAGTACTAACAAGGAAATACCCCTACTGCTTGGTACTCTCTTCACATGTAAGTAAAACCAGACATGAATGTCTTTAGCCAAGTTCAAGGACAAGACTAACTCTTTTCCTAAGCTAAGACCACATCATCTGGCCCTGATACTTCGGAATTTGCAGGAGCTTCTAACCCCCAACAACACTTCTTTTAGGTTGCTGTAATCATTATTTATTTAAAAAAATCTATCTGTGCAAACCTCTTCATGATCGTCTGATCAAAAGAGGGTATTACGCCTGTGGGAAAAAACCTCCAAGCAATGAATGTGCAAACTTGAATGCAATCTATTTACCAACAGTGCTTGATTATCTAATATTCCAAAGCATAATCACTATCATTAGGCATAAGTCAGACATCCGTAAGTTTATAAGCCAGGGCAGGAGCCATATCTTCATTCCTCAACTAAATTTTCTAATCATGCTCAGAACACAAAACAGGGTGCCCACAGCAAGTGTTCAGTTTCTATTTTCATCCATGTTTTCTTTACTCAGGACGTACACCCTCCTCCTGGGAAACCTGGCTTTCATACTCACTGTGTATGGGGATCTGGTAAACTGTCATGGTTTCATCCTCGTATTCTGGGGCAGAGTGGGGCCGCACAGCTACAAGAAAACCACACAACAGCAAAGTGATTGCATTAGTGAAGATGTGTGGGAAGAGTAACTTCAGGATCACCAACCACGAGCAACTGAATTGCCTCAGAATTATGGTGGGAATCTGACACGAAAACCAGACTTTCTAAGGAGATTACCATTTTTAGGAAATAAATAAAAGTGTATTTTGGTCAGCCATTTATATTTACTACAGCCAGATGAAAAGACATTATAATCTTTGGTGACTATCCGTTAAAAATTGAAAAACAAGAAACTAGTACTCAACTTTCAGAGACCCAAGTTAACAAACAGAATAGTGAAGCCAGGGAACCTATCATCGCAAACCAGAAGAGCTGATGTATATTTTGAAACAAAGTATTAGTGTTTCTATAAAAGAGGAGTATTAACAAGCCACAGATACACACCAGTGCCAGGACAAGAGCCCTACTAGCATCCTCAGTGAGGCCTCTTCCCATCAAGAGGCTGTAAGCCCCCCTGCGCAGCTGGAGCTGCGTTTCAATGTACAAAGTTGGCCACAAAACCTCTAGGGAACCCTTGTCACCCCCGCCCCCAACTCAAAGCAACTCAACGACGAGAAGCACCTCTGGAACTGAGGCAGGAGCCCTGCCGTCTGGATGGAGAATGCCACACAGCATGTACACAGGCAGGCATCAGCTGTTCAATCACTCCTGCCGACCTGGCCCCTATTTTTACAGCATGAGGTGGGAACACAGAAAATGTCACTATTTAGAAATCCCATCTCCAGCCACATGGTAGCTCATTTTGGGAGGCTGAGGCGGGCAGATCACAAGGTCAAGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGAGCGTGATGGCATGCGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGGTGGGAGAATGGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGTAAGAAAGCAAGACTCTATCCAAAAAAAAAAAAAAAAAAAAAAATCTCGTGGTGATGAAGCATTTGATTTTGAGGTTTGATGTTGATGTTTTTAATGGATTCTAATTTGAGAGGTCAGGGCATATATAAGTTAGAAATAGCAGAGGATGAGTCACAGACAAAGACGTACCCAGTTCTATTCCTTTCAATGGACCAGAAAATATTTTGATTGCTTCGAGGTATTTTTCCTAATGAAAAACAAAGAAATGAGCAGTTATGGTTGAACAAATGTAGAACACAGCAACTATTCAAGTATTTAAAAGGTTACCAATAGGTATCAACATAAAACAAAGCTTAGTAAATATTTTGAACATCATTTATTACAAATATTTACTGAGTATCCATTATATCAGATGCCAAGGATATAGCAGGAAAAAGAGATGGAGGCCTTGCTCTAATCAGGCCAGTGGAGGAGACAAAAGGAAACACGATAACAGAAACAGCTTAGTGGCATTATGCTAAGTGCTCTGCAAGGAAAATGAAAAATACAGAAGGCTGGGATCCAACTTGTCTAGAGAAGAAGAGGCAGTTCTGGAGTAAATGACCCTCTAGCTGAGCCCTGAAGGTTCAGTAACAATATAGGCAGCAATTAGAAGAGGCAGAGGGAACCCGCGGAAGGGCGAAAGTCCTGAAGTGGCCAGGGAGTTAGAGGGACATAAGAGTCAGCCCATGCAGCTGCAGTTCAGCGATGGGTACAGATGGAAGTGTGGGTAGCGGCCGGGGCCTACAGGACTTGTAGGCCATATCAAGGTGTTTTGATTGTATTGCAATGGGGAGCCCATGAAGGGCTTTAGGGTGGCAAGTGACACACTACTTTTCTGTCTTGAAGTGACCTCTCTGGCTGCTGTGTGGCAGATGGATTACAGGAAGGCGAGAATGAATATGGGAGGCTATTGTAGTTTACAGGCATAGAAAACAGAAATAAGGAAGGCCTCAATAAGAGACAAATGGATGGATTTCAAACGTTATTTTGGGGAAAGACTTAACAGGTCTTGGTGACTTTCTTCTTAAGGACTGGAAAATGAACTGTTATATTCAACAACACACACACGCCTTCTCAAGAGTGTAATAAGCTGGACTGAAAGGTAAGAAGATGTCAGAAATTTATTGAATAAAAACAAAAGCTGCCCTTTCTTGTGTGCCTACTTGGTGCCAAACATATATCTAATAAAGTGATTTAGTGCTTTATATGTGCTGCTACGTCATTTAATCTTTAACAACTCTATGAAACGTGATAGTCATCTTATAGATGAATAAACTAAAGCTCAGAAAGGTAAAGTAACTTGATCAAGGTCACATAGTTAATCAGAACTCAAGTCTTTTTAACTTGAAAGGGGAAGCGTTTCAACGACCAGGTATCTCTGGAGGGCAGAAGACTGATTTGCAAAAAGGAAAATTCTTGTTACTGATATTACAAAAGGAAAGATTGCTTTTGAAAGATGTGTCAGGAAAGACTCACCAGTTGTGGAGGTCCAGAAAGTACACACTTTGGAAGCCCGGTTTCCTTTAAAGTAAGAATCATTCCTAAAAAGGATGCATAAAATCAGATCTCTCATCAATTTGACCTGTCGTCACTAACAGGAGGAGCACCCCGTACTAATCCAACTATTTATCTACATCTCCACCTTCCAGCTTTGGAAGTACAACCAGGGAAGATGTACAGAGCAGAAGTGATGCCAGCTAGAGGTGTAACAGACACCAAATATTCTTTAAATGCCTCTAGAATGGGCTGAGCTGTCACTAGGGTGAAGCAGCAAGGCACCCAGTGTGCAAAATGTAAGGAATCATGCAAGTGAAGGGCTGGCACCCTAAGTGCCTCACCCTAGTCTCAGCCCTGAGAAGGGAGACTGGTCTAACACTTCACTCCTTCCGGTCCATGCCACCAAGCCCACACAATTTGGCTGCAACACAATCCTGACCTTCCGGTTGATAGACATAAATGACAGGGTAATCTGGACAGTGGGTATGTGTGTGGCTGCCAATGTGCCAATGGCGTCTGCGGTAAACATATTAACTGTAATCACCACTGCTAGACTCTCCAGTTTACTGCCACAAATCTCTGTCCCCGCAACGCAAGAAACTAAGTGGATGGTAACACTTAAGAGGTGGTATCCATATTAAAATCTGTTCTCCTGAGTCACAGCTTTTAATGCTCTGTGCTGCTGCTGACTGGGCTGGTATAAAAAGAATTCCAGGCCAGGTGCGGTG 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CAGGAGGAGCAAGCCAGGCAATGGGAGTGCTGATCAGCTCATCACAGCACTGGCCTAGGAGCACTTGTGCCATTGCTCCGGCACATTCCTCTCCTCCCTGCTGCCTTCTGCCTTCAGTCAGTGTAAGCCTCATCTCCTCGCCAGGTTCTGGACTTCTCTGGCCTTTGCTGGGTGCTCTGGTCTGTCACCCATCAGCACTACTTAGTAAGCATCACATTAGTTAGTACTAACAAGGAAATACCCCTACTGCTTGGTACTCTCTTCACATGTAAGTAAAACCAGACATGAATGTCTTTAGCCAAGTTCAAGGACAAGACTAACTCTTTTCCTAAGCTAAGACCACATCATCTGGCCCTGATACTTCGGAATTTGCAGGAGCTTCTAACCCCCAACAACACTTCTTTTAGGTTGCTGTAATCATTATTTATTTAAAAAAATCTATCTGTGCAAACCTCTTCATGATCGTCTGATCAAAAGAGGGTATTACGCCTGTGGGAAAAAACCTCCAAGCAATGAATGTGCAAACTTGAATGCAATCTATTTACCAACAGTGCTTGATTATCTAATATTCCAAAGCATAATCACTATCATTAGGCATAAGTCAGACATCCGTAAGTTTATAAGCCAGGGCAGGAGCCATATCTTCATTCCTCAACTAAATTTTCTAATCATGCTCAGAACACAAAACAGGGTGCCCACAGCAAGTGTTCAGTTTCTATTTTCATCCATGTTTTCTTTACTCAGGACGTACACCCTCCTCCTGGGAAACCTGGCTTTCATACTCACTGTGTATGGGGATCTGGTAAACTGTCATGGTTTCATCCTCGTATTCTGGGGCAGAGTGGGGCCGCACAGCTACAAGAAAACCACACAACAGCAAAGTGATTGCATTAGTGAAGATGTGTGGGAAGAGTAACTTCAGGATCACCAACCACGAGCAACTGAATTGCCTCAGAATTATGGTGGGAATCTGACACGAAAACCAGACTTTCTAAGGAGATTACCATTTTTAGGAAATAAATAAAAGTGTATTTTGGTCAGCCATTTATATTTACTACAGCCAGATGAAAAGACATTATAATCTTTGGTGACTATCCGTTAAAAATTGAAAAACAAGAAACTAGTACTCAACTTTCAGAGACCCAAGTTAACAAACAGAATAGTGAAGCCAGGGAACCTATCATCGCAAACCAGAAGAGCTGATGTATATTTTGAAACAAAGTATTAGTGTTTCTATAAAAGAGGAGTATTAACAAGCCACAGATACACACCAGTGCCAGGACAAGAGCCCTACTAGCATCCTCAGTGAGGCCTCTTCCCATCAAGAGGCTGTAAGCCCCCCTGCGCAGCTGGAGCTGCGTTTCAATGTACAAAGTTGGCCACAAAACCTCTAGGGAACCCTTGTCACCCCCGCCCCCAACTCAAAGCAACTCAACGACGAGAAGCACCTCTGGAACTGAGGCAGGAGCCCTGCCGTCTGGATGGAGAATGCCACACAGCATGTACACAGGCAGGCATCAGCTGTTCAATCACTCCTGCCGACCTGGCCCCTATTTTTACAGCATGAGGTGGGAACACAGAAAATGTCACTATTTAGAAATCCCATCTCCAGCCACATGGTAGCTCATTTTGGGAGGCTGAGGCGGGCAGATCACAAGGTCAAGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGAGCGTGATGGCATGCGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGGTGGGAGAATGGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGTAAGAAAGCAAGACTCTATCCAAAAAAAAAAAAAAAAAAAAAAATCTCGTGGTGATGAAGCATTTGATTTTGAGGTTTGATGTTGATGTTTTTAATGGATTCTAATTTGAGAGGTCAGGGCATATATAAGTTAGAAATAGCAGAGGATGAGTCACAGACAAAGACGTACCCAGTTCTATTCCTTTCAATGGACCAGAAAGTATTTTGATTGCTTCGAGGTATTTTTCCTAATGAAAAACAAAGAAATGAGCAGTTATGGTTGAACAAATGTAGAACACAGCAACTATTCAAGTATTTAAAAGGTTACCAATAGGTATCAACATAAAACAAAGCTTAGTAAATATTTTGAACATCATTTATTACAAATATTTACTGAGTATCCATTATATCAGATGCCAAGGATATAGCAGGAAAAAGAGATGGAGGCCTTGCTCTAATCAGGCCAGTGGAGGAGACAAAAGGAAACACGATAACAGAAACAGCTTAGTGGCATTATGCTAAGTGCTCTGCAAGGAAAATGAAAAATACAGAAGGCTGGGATCCAACTTGTCTAGAGAAGAAGAGGCAGTTCTGGAGTAAATGACCCTCTAGCTGAGCCCTGAAGGTTCAGTAACAATATAGGCAGCAATTAGAAGAGGCAGAGGGAACCCGCGGAAGGGCGAAAGTCCTGAAGTGGCCAGGGAGTTAGAGGGACATAAGAGTCAGCCCATGCAGCTGCAGTTCAGCGATGGGTACAGATGGAAGTGTGGGTAGCGGCCGGGGCCTACAGGACTTGTAGGCCATATCAAGGTGTTTTGATTGTATTGCAATGGGGAGCCCATGAAGGGCTTTAGGGTGGCAAGTGACACACTACTTTTCTGTCTTGAAGTGACCTCTCTGGCTGCTGTGTGGCAGATGGATTACAGGAAGGCGAGAATGAATATGGGAGGCTATTGTAGTTTACAGGCATAGAAAACAGAAATAAGGAAGGCCTCAATAAGAGACAAATGGATGGATTTCAAACGTTATTTTGGGGAAAGACTTAACAGGTCTTGGTGACTTTCTTCTTAAGGACTGGAAAATGAACTGTTATATTCAACAACACACACACGCCTTCTCAAGAGTGTAATAAGCTGGACTGAAAGGTAAGAAGATGTCAGAAATTTATTGAATAAAAACAAAAGCTGCCCTTTCTTGTGTGCCTACTTGGTGCCAAACATATATCTAATAAAGTGATTTAGTGCTTTATATGTGCTGCTACGTCATTTAATCTTTAACAACTCTATGAAACGTGATAGTCATCTTATAGATGAATAAACTAAAGCTCAGAAAGGTAAAGTAACTTGATCAAGGTCACATAGTTAATCAGAACTCAAGTCTTTTTAACTTGAAAGGGGAAGCGTTTCAACGACCAGGTATCTCTGGAGGGCAGAAGACTGATTTGCAAAAAGGAAAATTCTTGTTACTGATATTACAAAAGGAAAGATTGCTTTTGAAAGATGTGTCAGGAAAGACTCACCAGTTGTGGAGGTCCAGAAAGTACACACTTTGGAAGCCCGGTTTCCTTTAAAGTAAGAATCATTCCTAAAAAGGATGCATAAAATCAGATCTCTCATCAATTTGACCTGTCGTCACTAACAGGAGGAGCACCCCGTACTAATCCAACTATTTATCTACATCTCCACCTTCCAGCTTTGGAAGTACAACCAGGGAAGATGTACAGAGCAGAAGTGATGCCAGCTAGAGGTGTAACAGACACCAAATATTCTTTAAATGCCTCTAGAATGGGCTGAGCTGTCACTAGGGTGAAGCAGCAAGGCACCCAGTGTGCAAAATGTAAGGAATCATGCAAGTGAAGGGCTGGCACCCTAAGTGCCTCACCCTAGTCTCAGCCCTGAGAAGGGAGACTGGTCTAACACTTCACTCCTTCCGGTCCATGCCACCAAGCCCACACAATTTGGCTGCAACACAATCCTGACCTTCCGGTTGATAGACATAAATGACAGGGTAATCTGGACAGTGGGTATGTGTGTGGCTGCCAATGTGCCAATGGCGTCTGCGGTAAACATATTAACTGTAATCACCACTGCTAGACTCTCCAGTTTACTGCCACAAATCTCTGTCCCCGCAACGCAAGAAACTAAGTGGATGGTAACACTTAAGAGGTGGTATCCATATTAAAATCTGTTCTCCTGAGTCACAGCTTTTAATGCTCTGTGCTGCTGCTGACTGGGCTGGTATAAAAAGAATTCCAGGCCAGGTGCGGTG 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Task1_train_23816 | This is a variant in ELAC2 (elaC ribonuclease Z 2), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Prostate cancer, hereditary, 2, susceptibility to | CAGGAGGAGCAAGCCAGGCAATGGGAGTGCTGATCAGCTCATCACAGCACTGGCCTAGGAGCACTTGTGCCATTGCTCCGGCACATTCCTCTCCTCCCTGCTGCCTTCTGCCTTCAGTCAGTGTAAGCCTCATCTCCTCGCCAGGTTCTGGACTTCTCTGGCCTTTGCTGGGTGCTCTGGTCTGTCACCCATCAGCACTACTTAGTAAGCATCACATTAGTTAGTACTAACAAGGAAATACCCCTACTGCTTGGTACTCTCTTCACATGTAAGTAAAACCAGACATGAATGTCTTTAGCCAAGTTCAAGGACAAGACTAACTCTTTTCCTAAGCTAAGACCACATCATCTGGCCCTGATACTTCGGAATTTGCAGGAGCTTCTAACCCCCAACAACACTTCTTTTAGGTTGCTGTAATCATTATTTATTTAAAAAAATCTATCTGTGCAAACCTCTTCATGATCGTCTGATCAAAAGAGGGTATTACGCCTGTGGGAAAAAACCTCCAAGCAATGAATGTGCAAACTTGAATGCAATCTATTTACCAACAGTGCTTGATTATCTAATATTCCAAAGCATAATCACTATCATTAGGCATAAGTCAGACATCCGTAAGTTTATAAGCCAGGGCAGGAGCCATATCTTCATTCCTCAACTAAATTTTCTAATCATGCTCAGAACACAAAACAGGGTGCCCACAGCAAGTGTTCAGTTTCTATTTTCATCCATGTTTTCTTTACTCAGGACGTACACCCTCCTCCTGGGAAACCTGGCTTTCATACTCACTGTGTATGGGGATCTGGTAAACTGTCATGGTTTCATCCTCGTATTCTGGGGCAGAGTGGGGCCGCACAGCTACAAGAAAACCACACAACAGCAAAGTGATTGCATTAGTGAAGATGTGTGGGAAGAGTAACTTCAGGATCACCAACCACGAGCAACTGAATTGCCTCAGAATTATGGTGGGAATCTGACACGAAAACCAGACTTTCTAAGGAGATTACCATTTTTAGGAAATAAATAAAAGTGTATTTTGGTCAGCCATTTATATTTACTACAGCCAGATGAAAAGACATTATAATCTTTGGTGACTATCCGTTAAAAATTGAAAAACAAGAAACTAGTACTCAACTTTCAGAGACCCAAGTTAACAAACAGAATAGTGAAGCCAGGGAACCTATCATCGCAAACCAGAAGAGCTGATGTATATTTTGAAACAAAGTATTAGTGTTTCTATAAAAGAGGAGTATTAACAAGCCACAGATACACACCAGTGCCAGGACAAGAGCCCTACTAGCATCCTCAGTGAGGCCTCTTCCCATCAAGAGGCTGTAAGCCCCCCTGCGCAGCTGGAGCTGCGTTTCAATGTACAAAGTTGGCCACAAAACCTCTAGGGAACCCTTGTCACCCCCGCCCCCAACTCAAAGCAACTCAACGACGAGAAGCACCTCTGGAACTGAGGCAGGAGCCCTGCCGTCTGGATGGAGAATGCCACACAGCATGTACACAGGCAGGCATCAGCTGTTCAATCACTCCTGCCGACCTGGCCCCTATTTTTACAGCATGAGGTGGGAACACAGAAAATGTCACTATTTAGAAATCCCATCTCCAGCCACATGGTAGCTCATTTTGGGAGGCTGAGGCGGGCAGATCACAAGGTCAAGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGAGCGTGATGGCATGCGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGGTGGGAGAATGGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGTAAGAAAGCAAGACTCTATCCAAAAAAAAAAAAAAAAAAAAAAATCTCGTGGTGATGAAGCATTTGATTTTGAGGTTTGATGTTGATGTTTTTAATGGATTCTAATTTGAGAGGTCAGGGCATATATAAGTTAGAAATAGCAGAGGATGAGTCACAGACAAAGACGTACCCAGTTCTATTCCTTTCAATGGACCAGAAAATATTTTGATTGCTTCGAGGTATTTTTCCTAATGAAAAACAAAGAAATGAGCAGTTATGGTTGAACAAATGTAGAACACAGCAACTATTCAAGTATTTAAAAGGTTACCAATAGGTATCAACATAAAACAAAGCTTAGTAAATATTTTGAACATCATTTATTACAAATATTTACTGAGTATCCATTATATCAGATGCCAAGGATATAGCAGGAAAAAGAGATGGAGGCCTTGCTCTAATCAGGCCAGTGGAGGAGACAAAAGGAAACACGATAACAGAAACAGCTTAGTGGCATTATGCTAAGTGCTCTGCAAGGAAAATGAAAAATACAGAAGGCTGGGATCCAACTTGTCTAGAGAAGAAGAGGCAGTTCTGGAGTAAATGACCCTCTAGCTGAGCCCTGAAGGTTCAGTAACAATATAGGCAGCAATTAGAAGAGGCAGAGGGAACCCGCGGAAGGGCGAAAGTCCTGAAGTGGCCAGGGAGTTAGAGGGACATAAGAGTCAGCCCATGCAGCTGCAGTTCAGCGATGGGTACAGATGGAAGTGTGGGTAGCGGCCGGGGCCTACAGGACTTGTAGGCCATATCAAGGTGTTTTGATTGTATTGCAATGGGGAGCCCATGAAGGGCTTTAGGGTGGCAAGTGACACACTACTTTTCTGTCTTGAAGTGACCTCTCTGGCTGCTGTGTGGCAGATGGATTACAGGAAGGCGAGAATGAATATGGGAGGCTATTGTAGTTTACAGGCATAGAAAACAGAAATAAGGAAGGCCTCAATAAGAGACAAATGGATGGATTTCAAACGTTATTTTGGGGAAAGACTTAACAGGTCTTGGTGACTTTCTTCTTAAGGACTGGAAAATGAACTGTTATATTCAACAACACACACACGCCTTCTCAAGAGTGTAATAAGCTGGACTGAAAGGTAAGAAGATGTCAGAAATTTATTGAATAAAAACAAAAGCTGCCCTTTCTTGTGTGCCTACTTGGTGCCAAACATATATCTAATAAAGTGATTTAGTGCTTTATATGTGCTGCTACGTCATTTAATCTTTAACAACTCTATGAAACGTGATAGTCATCTTATAGATGAATAAACTAAAGCTCAGAAAGGTAAAGTAACTTGATCAAGGTCACATAGTTAATCAGAACTCAAGTCTTTTTAACTTGAAAGGGGAAGCGTTTCAACGACCAGGTATCTCTGGAGGGCAGAAGACTGATTTGCAAAAAGGAAAATTCTTGTTACTGATATTACAAAAGGAAAGATTGCTTTTGAAAGATGTGTCAGGAAAGACTCACCAGTTGTGGAGGTCCAGAAAGTACACACTTTGGAAGCCCGGTTTCCTTTAAAGTAAGAATCATTCCTAAAAAGGATGCATAAAATCAGATCTCTCATCAATTTGACCTGTCGTCACTAACAGGAGGAGCACCCCGTACTAATCCAACTATTTATCTACATCTCCACCTTCCAGCTTTGGAAGTACAACCAGGGAAGATGTACAGAGCAGAAGTGATGCCAGCTAGAGGTGTAACAGACACCAAATATTCTTTAAATGCCTCTAGAATGGGCTGAGCTGTCACTAGGGTGAAGCAGCAAGGCACCCAGTGTGCAAAATGTAAGGAATCATGCAAGTGAAGGGCTGGCACCCTAAGTGCCTCACCCTAGTCTCAGCCCTGAGAAGGGAGACTGGTCTAACACTTCACTCCTTCCGGTCCATGCCACCAAGCCCACACAATTTGGCTGCAACACAATCCTGACCTTCCGGTTGATAGACATAAATGACAGGGTAATCTGGACAGTGGGTATGTGTGTGGCTGCCAATGTGCCAATGGCGTCTGCGGTAAACATATTAACTGTAATCACCACTGCTAGACTCTCCAGTTTACTGCCACAAATCTCTGTCCCCGCAACGCAAGAAACTAAGTGGATGGTAACACTTAAGAGGTGGTATCCATATTAAAATCTGTTCTCCTGAGTCACAGCTTTTAATGCTCTGTGCTGCTGCTGACTGGGCTGGTATAAAAAGAATTCCAGGCCAGGTGCGGTG 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CAGGAGGAGCAAGCCAGGCAATGGGAGTGCTGATCAGCTCATCACAGCACTGGCCTAGGAGCACTTGTGCCATTGCTCCGGCACATTCCTCTCCTCCCTGCTGCCTTCTGCCTTCAGTCAGTGTAAGCCTCATCTCCTCGCCAGGTTCTGGACTTCTCTGGCCTTTGCTGGGTGCTCTGGTCTGTCACCCATCAGCACTACTTAGTAAGCATCACATTAGTTAGTACTAACAAGGAAATACCCCTACTGCTTGGTACTCTCTTCACATGTAAGTAAAACCAGACATGAATGTCTTTAGCCAAGTTCAAGGACAAGACTAACTCTTTTCCTAAGCTAAGACCACATCATCTGGCCCTGATACTTCGGAATTTGCAGGAGCTTCTAACCCCCAACAACACTTCTTTTAGGTTGCTGTAATCATTATTTATTTAAAAAAATCTATCTGTGCAAACCTCTTCATGATCGTCTGATCAAAAGAGGGTATTACGCCTGTGGGAAAAAACCTCCAAGCAATGAATGTGCAAACTTGAATGCAATCTATTTACCAACAGTGCTTGATTATCTAATATTCCAAAGCATAATCACTATCATTAGGCATAAGTCAGACATCCGTAAGTTTATAAGCCAGGGCAGGAGCCATATCTTCATTCCTCAACTAAATTTTCTAATCATGCTCAGAACACAAAACAGGGTGCCCACAGCAAGTGTTCAGTTTCTATTTTCATCCATGTTTTCTTTACTCAGGACGTACACCCTCCTCCTGGGAAACCTGGCTTTCATACTCACTGTGTATGGGGATCTGGTAAACTGTCATGGTTTCATCCTCGTATTCTGGGGCAGAGTGGGGCCGCACAGCTACAAGAAAACCACACAACAGCAAAGTGATTGCATTAGTGAAGATGTGTGGGAAGAGTAACTTCAGGATCACCAACCACGAGCAACTGAATTGCCTCAGAATTATGGTGGGAATCTGACACGAAAACCAGACTTTCTAAGGAGATTACCATTTTTAGGAAATAAATAAAAGTGTATTTTGGTCAGCCATTTATATTTACTACAGCCAGATGAAAAGACATTATAATCTTTGGTGACTATCCGTTAAAAATTGAAAAACAAGAAACTAGTACTCAACTTTCAGAGACCCAAGTTAACAAACAGAATAGTGAAGCCAGGGAACCTATCATCGCAAACCAGAAGAGCTGATGTATATTTTGAAACAAAGTATTAGTGTTTCTATAAAAGAGGAGTATTAACAAGCCACAGATACACACCAGTGCCAGGACAAGAGCCCTACTAGCATCCTCAGTGAGGCCTCTTCCCATCAAGAGGCTGTAAGCCCCCCTGCGCAGCTGGAGCTGCGTTTCAATGTACAAAGTTGGCCACAAAACCTCTAGGGAACCCTTGTCACCCCCGCCCCCAACTCAAAGCAACTCAACGACGAGAAGCACCTCTGGAACTGAGGCAGGAGCCCTGCCGTCTGGATGGAGAATGCCACACAGCATGTACACAGGCAGGCATCAGCTGTTCAATCACTCCTGCCGACCTGGCCCCTATTTTTACAGCATGAGGTGGGAACACAGAAAATGTCACTATTTAGAAATCCCATCTCCAGCCACATGGTAGCTCATTTTGGGAGGCTGAGGCGGGCAGATCACAAGGTCAAGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGAGCGTGATGGCATGCGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGGTGGGAGAATGGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGTAAGAAAGCAAGACTCTATCCAAAAAAAAAAAAAAAAAAAAAAATCTCGTGGTGATGAAGCATTTGATTTTGAGGTTTGATGTTGATGTTTTTAATGGATTCTAATTTGAGAGGTCAGGGCATATATAAGTTAGAAATAGCAGAGGATGAGTCACAGACAAAGACGTACCCAGTTCTATTCCTTTCAATGGACCAGAAAGTATTTTGATTGCTTCGAGGTATTTTTCCTAATGAAAAACAAAGAAATGAGCAGTTATGGTTGAACAAATGTAGAACACAGCAACTATTCAAGTATTTAAAAGGTTACCAATAGGTATCAACATAAAACAAAGCTTAGTAAATATTTTGAACATCATTTATTACAAATATTTACTGAGTATCCATTATATCAGATGCCAAGGATATAGCAGGAAAAAGAGATGGAGGCCTTGCTCTAATCAGGCCAGTGGAGGAGACAAAAGGAAACACGATAACAGAAACAGCTTAGTGGCATTATGCTAAGTGCTCTGCAAGGAAAATGAAAAATACAGAAGGCTGGGATCCAACTTGTCTAGAGAAGAAGAGGCAGTTCTGGAGTAAATGACCCTCTAGCTGAGCCCTGAAGGTTCAGTAACAATATAGGCAGCAATTAGAAGAGGCAGAGGGAACCCGCGGAAGGGCGAAAGTCCTGAAGTGGCCAGGGAGTTAGAGGGACATAAGAGTCAGCCCATGCAGCTGCAGTTCAGCGATGGGTACAGATGGAAGTGTGGGTAGCGGCCGGGGCCTACAGGACTTGTAGGCCATATCAAGGTGTTTTGATTGTATTGCAATGGGGAGCCCATGAAGGGCTTTAGGGTGGCAAGTGACACACTACTTTTCTGTCTTGAAGTGACCTCTCTGGCTGCTGTGTGGCAGATGGATTACAGGAAGGCGAGAATGAATATGGGAGGCTATTGTAGTTTACAGGCATAGAAAACAGAAATAAGGAAGGCCTCAATAAGAGACAAATGGATGGATTTCAAACGTTATTTTGGGGAAAGACTTAACAGGTCTTGGTGACTTTCTTCTTAAGGACTGGAAAATGAACTGTTATATTCAACAACACACACACGCCTTCTCAAGAGTGTAATAAGCTGGACTGAAAGGTAAGAAGATGTCAGAAATTTATTGAATAAAAACAAAAGCTGCCCTTTCTTGTGTGCCTACTTGGTGCCAAACATATATCTAATAAAGTGATTTAGTGCTTTATATGTGCTGCTACGTCATTTAATCTTTAACAACTCTATGAAACGTGATAGTCATCTTATAGATGAATAAACTAAAGCTCAGAAAGGTAAAGTAACTTGATCAAGGTCACATAGTTAATCAGAACTCAAGTCTTTTTAACTTGAAAGGGGAAGCGTTTCAACGACCAGGTATCTCTGGAGGGCAGAAGACTGATTTGCAAAAAGGAAAATTCTTGTTACTGATATTACAAAAGGAAAGATTGCTTTTGAAAGATGTGTCAGGAAAGACTCACCAGTTGTGGAGGTCCAGAAAGTACACACTTTGGAAGCCCGGTTTCCTTTAAAGTAAGAATCATTCCTAAAAAGGATGCATAAAATCAGATCTCTCATCAATTTGACCTGTCGTCACTAACAGGAGGAGCACCCCGTACTAATCCAACTATTTATCTACATCTCCACCTTCCAGCTTTGGAAGTACAACCAGGGAAGATGTACAGAGCAGAAGTGATGCCAGCTAGAGGTGTAACAGACACCAAATATTCTTTAAATGCCTCTAGAATGGGCTGAGCTGTCACTAGGGTGAAGCAGCAAGGCACCCAGTGTGCAAAATGTAAGGAATCATGCAAGTGAAGGGCTGGCACCCTAAGTGCCTCACCCTAGTCTCAGCCCTGAGAAGGGAGACTGGTCTAACACTTCACTCCTTCCGGTCCATGCCACCAAGCCCACACAATTTGGCTGCAACACAATCCTGACCTTCCGGTTGATAGACATAAATGACAGGGTAATCTGGACAGTGGGTATGTGTGTGGCTGCCAATGTGCCAATGGCGTCTGCGGTAAACATATTAACTGTAATCACCACTGCTAGACTCTCCAGTTTACTGCCACAAATCTCTGTCCCCGCAACGCAAGAAACTAAGTGGATGGTAACACTTAAGAGGTGGTATCCATATTAAAATCTGTTCTCCTGAGTCACAGCTTTTAATGCTCTGTGCTGCTGCTGACTGGGCTGGTATAAAAAGAATTCCAGGCCAGGTGCGGTG 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Task1_train_23817 | A genomic change on Chromosome 17 affects COX10, LOC130060303 (cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10| ATAC-STARR-seq lymphoblastoid active region 11742). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Mitochondrial complex 4 deficiency, nuclear type 3 | CTCACAGGTTTCAGGGACTCAGGTCTTGGTTCTGGCACTCAACAGCTAGGTAACTTTGATCAGATTACTTAAAACTCTCTGGGCCTTAATGTGCCAGACTTAGAGAGGATAACTTTTGCTCTAGGTTTAAACAACAAGTGTTTATAAAAGCACATGGAAAATTATAAAGAGTTCAAAAACTTTTAACGTAGTACTTAATGCTATTTTCCTCTTTATGGAGTGTCCTTTCCCTTTCTTTTATGCTGTAAAAATCTTTTTTTTTTTTTTTTTTTTTTACTTTCAGATCTAGGGTACATGGGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGTACCCATTAACTCGTCATTTACATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCCATCCCACGACAGGCCCCAGTGTGTGTGATGTTCCCCTTCCTGTGTCCAAGTGTTCTCATTGTGTATGCTGTAAAAATCTTACTGTTCCTTCCAGAGCACCAAGTTTAGATCTCTGAAGCTTTCCTTAAACCAACTGCACAGAAATGTTACCTCATCAGGGTTTCTGCAGCACTTTGTATACTACCCCTATCACACTGATAGTGACAATCGACAACCTCTTGTCCCCTCATTGGTCTAGTGTTAAGCTCCTACAGAATCGGGTGGGGGGGGTGTCTTAATCTCTTCAGCGTCCCCTGTGCCTAGCAATGTTAGTTGAGGTGAACCAAAACGGCTATCCTCTCATCATTGAAAACACAGAAAAAAATGGCCTTTTTAGAACCCAATTACCTATTTTTTCTCTTCTTTTTCAAAAGCGGAATCTTTTCTTCAATCTACTTTTTACTTGTGGAACCCCAATCTGAAAAGAAGATCGAGGGGTTGGGGGATGCTGAGATCTACCCTGGTAATCACAACACTTATGATAACACAGGTAATAATCTATTAGTGCCTGTACCTAGTAGGTGTCTGGCTACCCATGAAACACATTTATCTAATTCTCTCAACCTCTTATAAAAGATGTACCATTACTACTCCATTGTATTGCTAGATAACTGAGGTTCAGAGGACTTAGGTAATTTGCTCCAACAAGGTCAAAAGGCCAGAACTAGAATACGGATTTCACTCCAGACCACCAAATCTGAACCTCTACATGCAATCTGGAGATATCTGGATGATTCAGTTCCTTTAGTGTGGCTCAGAAACAAGTAACCCGGAGTTCCTCTGGGCTCCCATTTGATAGAGACTACGGTAAAGTGTAATTGATTAGACGTGGAGGTGGAAGCATCCCCACGAGAACCATTTCCTCATGATGCTCCTGTCACCGGGAAGTGTTCTAATTTTAACTTTATTTTTATTTTAAAATTTATTTTTAGAGACAGGGTCTCACTGTGTCGCCCAGACTGCAGTGCAGTGGCGCAATCACCGCAACCTCGACCTCCCAGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGCACGCGCCACCACACCTGGCTAATTTTACATTTTTTGTAGAGGCGGGGTCTCGCTTTGTTGCCCAGGCTGGTCTCGAGTTCCCAGGATCAAGCGATCCTCCCGCCTCGGTCTCCCTAAGCACTGGGATTGCAGGCGTGAGCCACAGCGCCCGGCCGCTGTAACTTTAAATTGCCCGGGAGGACTCTGCAGCCCAACCCTGCCCACCTCACCCGGTCACCGGAGGATGCCTGTCAACTTCTGGGAGCTGCAAGCGCGGGCCGGCCAGTCGTCCGCGCGCGGCTTTTTCTTCAGGACAGCGGAGGCACACCGTGCTTTGCGGTTCCCGGAAGTCCTTCAGGCCTCAGACCTGTCAGCCCGCCACACTCCAGCCAGTCCCTTCCGATCACCTCCAGACACCACGCTCTCCTTTCGGAGCCCGCCCGCCGGAAGTGGCGGCCCGGAACTACTCCCACAGGGGGGCGGGGAAGGAAGATGGCGGCGCCCAGCGTCCCGTGAGGAGAGAGGACACAGGGATCCCGGGGAGCGGCCCCAGACTCGTAAATTATGGCCGCATCTCCGCACACTCTCTCCTCACGCCTCCTGACAGGTACTGTACCCGCCTTGGGCACGACCTTGGGGGAAATTCTTCTCTTATTACCACGTGCGAGGCCGTGGTTCCGGCTGGCTGCAACCTTGGGGAGCCCTTGGCGAGGTTGGCCGGCCACCGGTGTGGTGGGGGAAATGACCTCTGGAGTAGCTTGGAGTGAAGAGGTCACGGAGCTAGGGTCCAGTCTTGCACTGTGGCTTTAGTGGTCCACACAGCCTCCTCCATCCGGCTTCTGCGGAAGAGCGGTGTCTTCCTGCTTCTTTAGGTTTTCAGATAGTGGAAGCTGGAGGAGAGGGCAGAGCAGAACCTTGGGGTTCCACAGTCCTCCTTATCAGAGCCTCGGCTTCTAGCCACTGGCTTGCAATGACAAGGAAGGTGCTTTGCTTCCACTCAGAAGCCTTGTTCCAATATAAAGGGTCATGATGACAACGTTGATGATAATGACAGTTGCAGACAGCGGAGTGTAGTCCCCATCAGACTTTTGTCTCTGTACCGCCAGAGTGGTCTTTAATATCCTTTCACTCGAAGAAACTAGTGACAAATGTATATTGGAGCTGGAATGTTCTTCCTTGACTCTTGGTAATGGCTCATCTCAAATGTCACCTTTTCAGAGAGGCCTTTATAGAGACCACCCTATATAAACTAGGGCCCCCTACTTCTTTCTTTTCACATCATTCCATTTATTTCTTTCATTATGGTTAGCACAGTCTATACTTGTTTATTTATATACTCGTTTATTATTTGTTTTTCCCAACTAGAATATAAACCTTGTGATGGCAGGGACAGTGTCCATCTCTGGTTTACCTCTGTGTTTCCAGTGCCCAGAACAGTACTTAGTGTACATTGTTTGCTCCCAATAGTTATTTGTGGATGGATGCAATTTGTCCCCATGGAGATCTTAAAGAGGACGTTAGATGATTAACTAATGGTTGTGTGAGGAATGTGATGCCGGTGGTGCATATTAGAGGCCAGATAAGAGAAGCCAGGGACTGCCTTTTGATCACATCCCAGAAACTTTTTTCACTTGTCACCTACCACACACAAGCTCTCTGCACCATCTGGTGATGTTGACACTGTGACTCCATGAAATTGCGTTCTTCGTTCTTTTTCATAATGTTATTTTATGGCTGTCTTCTGGTCTGTGTGATTCCAGGGCAATTCATTTGACTTTTCTGGAATTGAGTTTACTCATCTATAAAATGACGTAATTGAAGTAGGTGATCTCAAAGGTCCTGTTTGGTTTGTAAAGTGGAGAGGTAGAATAGATTGGCTAGGGTCTGGTAATTGTTGAAGCTTGGGGATAAGTAATGGGGGCTCATGGTACTCTTCTGCTTTTACACATGGCTGTGATTTTCCATAATGAAAAGTTGTTGTTTGTTGTTTTTTAAAGTCCTGTGATTCTTTTTTGAATCACTTCTTTGTTACATTCTACCATACCTGACTGTGAATGTTCTTTGATCCTGATCCTGGGCACTCATTCTCAGAGAACTCATCCTTTTATGTTGCTTCAAATATCTTCTCTGTATGGAGGTTTTTCCAGCATGCATCCTTCAGATTAGCTGTTTTTCTGCCTTTCCATTCTATATTGTCAGCTATAGGACAATTCTGCTTGACTACTGTGAATTGCCCAGTTCCAGTAGGTGGGCTGCATGTGGCCCATATGGTTTGTTGCTGCATCAGTCTTTGCAGTGGTGGTATGGAAGGAATTAATAGACAGCTTACTCCCTGAAGCTGTGAACATAATTGCCAAAAACTCTGCTAGTAAGTGGTCTGTATAACTCCCTGTGATCCATTTGGAAGATCTACTAAGAGAGCTTGATGGGGAAGCAGCATGGTGGGACAAGGTGGCAGAGAAGGTAAACTGGGACAGTGTTAGTGATCGAGTAGTATCATGCCTGATTTTGCTTCTAAAAGTTCTAAGTATTTTACAGCCATTTAAAAACTGTCATCACTGGCCGGGCGCAGTAGCTTACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGC 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CTCACAGGTTTCAGGGACTCAGGTCTTGGTTCTGGCACTCAACAGCTAGGTAACTTTGATCAGATTACTTAAAACTCTCTGGGCCTTAATGTGCCAGACTTAGAGAGGATAACTTTTGCTCTAGGTTTAAACAACAAGTGTTTATAAAAGCACATGGAAAATTATAAAGAGTTCAAAAACTTTTAACGTAGTACTTAATGCTATTTTCCTCTTTATGGAGTGTCCTTTCCCTTTCTTTTATGCTGTAAAAATCTTTTTTTTTTTTTTTTTTTTTTACTTTCAGATCTAGGGTACATGGGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGTACCCATTAACTCGTCATTTACATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCCATCCCACGACAGGCCCCAGTGTGTGTGATGTTCCCCTTCCTGTGTCCAAGTGTTCTCATTGTGTATGCTGTAAAAATCTTACTGTTCCTTCCAGAGCACCAAGTTTAGATCTCTGAAGCTTTCCTTAAACCAACTGCACAGAAATGTTACCTCATCAGGGTTTCTGCAGCACTTTGTATACTACCCCTATCACACTGATAGTGACAATCGACAACCTCTTGTCCCCTCATTGGTCTAGTGTTAAGCTCCTACAGAATCGGGTGGGGGGGGTGTCTTAATCTCTTCAGCGTCCCCTGTGCCTAGCAATGTTAGTTGAGGTGAACCAAAACGGCTATCCTCTCATCATTGAAAACACAGAAAAAAATGGCCTTTTTAGAACCCAATTACCTATTTTTTCTCTTCTTTTTCAAAAGCGGAATCTTTTCTTCAATCTACTTTTTACTTGTGGAACCCCAATCTGAAAAGAAGATCGAGGGGTTGGGGGATGCTGAGATCTACCCTGGTAATCACAACACTTATGATAACACAGGTAATAATCTATTAGTGCCTGTACCTAGTAGGTGTCTGGCTACCCATGAAACACATTTATCTAATTCTCTCAACCTCTTATAAAAGATGTACCATTACTACTCCATTGTATTGCTAGATAACTGAGGTTCAGAGGACTTAGGTAATTTGCTCCAACAAGGTCAAAAGGCCAGAACTAGAATACGGATTTCACTCCAGACCACCAAATCTGAACCTCTACATGCAATCTGGAGATATCTGGATGATTCAGTTCCTTTAGTGTGGCTCAGAAACAAGTAACCCGGAGTTCCTCTGGGCTCCCATTTGATAGAGACTACGGTAAAGTGTAATTGATTAGACGTGGAGGTGGAAGCATCCCCACGAGAACCATTTCCTCATGATGCTCCTGTCACCGGGAAGTGTTCTAATTTTAACTTTATTTTTATTTTAAAATTTATTTTTAGAGACAGGGTCTCACTGTGTCGCCCAGACTGCAGTGCAGTGGCGCAATCACCGCAACCTCGACCTCCCAGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGCACGCGCCACCACACCTGGCTAATTTTACATTTTTTGTAGAGGCGGGGTCTCGCTTTGTTGCCCAGGCTGGTCTCGAGTTCCCAGGATCAAGCGATCCTCCCGCCTCGGTCTCCCTAAGCACTGGGATTGCAGGCGTGAGCCACAGCGCCCGGCCGCTGTAACTTTAAATTGCCCGGGAGGACTCTGCAGCCCAACCCTGCCCACCTCACCCGGTCACCGGAGGATGCCTGTCAACTTCTGGGAGCTGCAAGCGCGGGCCGGCCAGTCGTCCGCGCGCGGCTTTTTCTTCAGGACAGCGGAGGCACACCGTGCTTTGCGGTTCCCGGAAGTCCTTCAGGCCTCAGACCTGTCAGCCCGCCACACTCCAGCCAGTCCCTTCCGATCACCTCCAGACACCACGCTCTCCTTTCGGAGCCCGCCCGCCGGAAGTGGCGGCCCGGAACTACTCCCACAGGGGGGCGGGGAAGGAAGATGGCGGCGCCCAGCGTCCCGTGAGGAGAGAGGACACAGGGATCCCGGGGAGCGGCCCCAGACTCGTAAATTACGGCCGCATCTCCGCACACTCTCTCCTCACGCCTCCTGACAGGTACTGTACCCGCCTTGGGCACGACCTTGGGGGAAATTCTTCTCTTATTACCACGTGCGAGGCCGTGGTTCCGGCTGGCTGCAACCTTGGGGAGCCCTTGGCGAGGTTGGCCGGCCACCGGTGTGGTGGGGGAAATGACCTCTGGAGTAGCTTGGAGTGAAGAGGTCACGGAGCTAGGGTCCAGTCTTGCACTGTGGCTTTAGTGGTCCACACAGCCTCCTCCATCCGGCTTCTGCGGAAGAGCGGTGTCTTCCTGCTTCTTTAGGTTTTCAGATAGTGGAAGCTGGAGGAGAGGGCAGAGCAGAACCTTGGGGTTCCACAGTCCTCCTTATCAGAGCCTCGGCTTCTAGCCACTGGCTTGCAATGACAAGGAAGGTGCTTTGCTTCCACTCAGAAGCCTTGTTCCAATATAAAGGGTCATGATGACAACGTTGATGATAATGACAGTTGCAGACAGCGGAGTGTAGTCCCCATCAGACTTTTGTCTCTGTACCGCCAGAGTGGTCTTTAATATCCTTTCACTCGAAGAAACTAGTGACAAATGTATATTGGAGCTGGAATGTTCTTCCTTGACTCTTGGTAATGGCTCATCTCAAATGTCACCTTTTCAGAGAGGCCTTTATAGAGACCACCCTATATAAACTAGGGCCCCCTACTTCTTTCTTTTCACATCATTCCATTTATTTCTTTCATTATGGTTAGCACAGTCTATACTTGTTTATTTATATACTCGTTTATTATTTGTTTTTCCCAACTAGAATATAAACCTTGTGATGGCAGGGACAGTGTCCATCTCTGGTTTACCTCTGTGTTTCCAGTGCCCAGAACAGTACTTAGTGTACATTGTTTGCTCCCAATAGTTATTTGTGGATGGATGCAATTTGTCCCCATGGAGATCTTAAAGAGGACGTTAGATGATTAACTAATGGTTGTGTGAGGAATGTGATGCCGGTGGTGCATATTAGAGGCCAGATAAGAGAAGCCAGGGACTGCCTTTTGATCACATCCCAGAAACTTTTTTCACTTGTCACCTACCACACACAAGCTCTCTGCACCATCTGGTGATGTTGACACTGTGACTCCATGAAATTGCGTTCTTCGTTCTTTTTCATAATGTTATTTTATGGCTGTCTTCTGGTCTGTGTGATTCCAGGGCAATTCATTTGACTTTTCTGGAATTGAGTTTACTCATCTATAAAATGACGTAATTGAAGTAGGTGATCTCAAAGGTCCTGTTTGGTTTGTAAAGTGGAGAGGTAGAATAGATTGGCTAGGGTCTGGTAATTGTTGAAGCTTGGGGATAAGTAATGGGGGCTCATGGTACTCTTCTGCTTTTACACATGGCTGTGATTTTCCATAATGAAAAGTTGTTGTTTGTTGTTTTTTAAAGTCCTGTGATTCTTTTTTGAATCACTTCTTTGTTACATTCTACCATACCTGACTGTGAATGTTCTTTGATCCTGATCCTGGGCACTCATTCTCAGAGAACTCATCCTTTTATGTTGCTTCAAATATCTTCTCTGTATGGAGGTTTTTCCAGCATGCATCCTTCAGATTAGCTGTTTTTCTGCCTTTCCATTCTATATTGTCAGCTATAGGACAATTCTGCTTGACTACTGTGAATTGCCCAGTTCCAGTAGGTGGGCTGCATGTGGCCCATATGGTTTGTTGCTGCATCAGTCTTTGCAGTGGTGGTATGGAAGGAATTAATAGACAGCTTACTCCCTGAAGCTGTGAACATAATTGCCAAAAACTCTGCTAGTAAGTGGTCTGTATAACTCCCTGTGATCCATTTGGAAGATCTACTAAGAGAGCTTGATGGGGAAGCAGCATGGTGGGACAAGGTGGCAGAGAAGGTAAACTGGGACAGTGTTAGTGATCGAGTAGTATCATGCCTGATTTTGCTTCTAAAAGTTCTAAGTATTTTACAGCCATTTAAAAACTGTCATCACTGGCCGGGCGCAGTAGCTTACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGC 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Task1_train_23818 | A genetic alteration is present in COX10 (cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Mitochondrial complex 4 deficiency, nuclear type 3 | ACTTCCACTTATAGATTGCCTTCTTGCATTAGACTTTCAGTGACTCTGCACTGCCAACCAACCAAACTACAAACTCCTCAGCTTGCTATTCTGCAGTCTGACATTTGCCACCTTTCCTCCTGTTTTTCCAGTAAATACTGCTCTATGCCTAGCTCAGTGATAGCCCCCCCAAATACAGCAGTGAACTACACAGACAGGGGTCCTACCTTCATGGAGCTTATATTCCAGTGAGGAGTCAGAGTGTAGTAAGTGTCATGAAGGAAATAAAAGGAGGATGTGAGCGAGGGAGTAACTGGGGAGACTTACGTTAGATGAGGTCATCAGGAAGGTTCCCCTTAACAAGTAGTATTTCCAATGGGATCTGAAGGATGAGAAGGAGCCAGCTGTGGAAAGAGGCAAATGAAACAAAAGTACAAGAACCCAGGGACAAGAAAGAGCTTGGAATGCTCAAAGAATAGAAGAAGTCTCATGAATGGATAATAGTGATTGAGCTAAAGAGAAGTGTGAGATGCACTTACTGGCAGAGAAAGAGTTTACATTTTATATCAGGTATAGCATCAAAGAATTTTCAATGTTCAAAGCAGCGATGTGATTTGATCTGTTTTCATTTTAAAAACATCACTCTGAAGAGAAGCAAGATGGAAGCAAGGAGACCAGTTAGGGGGTAAAGCTCTTATGGCAATTGCTTGGACTATGTTAGGGTTTCTCAAGCTCAGCACTACTGGCATTTTAGGCTAGAAAATTATTTGTTGTTGGGGGGTGTCCTATGCACCATAAGATGTTAAGAAGCATCCTCAGCCTTTATCCACTAGAAGACAAGTAGCACCCTCCCCTGCAATCAAAAGTGTTTCCAGACAATGCTAAATGTCCCCTGGGGGGCAAAACTACCCCTGGTTAAGAACTGCTGGACTAAATGCTGGCAGTGTGATGGGTTTGAAACATAGTGTAGAGATAGAACAGACACTACTTTGCAATGAACGGGATATAGCGAGTGACAAAGGAGATAATCAAATATGCTTCCTAGGTTTTTGGTTGAAGAATCTAGGTAGATGGTATCATGCATACTTTGGATTCTTGACATAGGTCTTCCCTTCCCTTGTGCCTGTTCTTGGAATTATCCATGTACCTGTAATGTTGCTCACCCTACCATTCTCTTCCTTTCTCTTCATCCTCTCTAGAAAATCCAACTTAAATGTCATCTTCTTGAAGCTTTCCCAGATTTGCCCACCAATGGTGATCCTTTTTCCAGCGGATTTCTACAGCTGCATATCAGCACCACTCTTGGACACTTTCTGGCCCTGTCAGCTTCTGTAAACCCCAGGAAAGAAGCGCCAGGGCCTACCGAAAAGGAGCAGCCTTGGTGGAAGCTTGAAATGTCTGGCTTTGATTCTGTACCTCGCCTCTTCCCTTGGTTCCTGCTGGTGGCTTGTAGGATTATCATCTCCCACTACGCATTCTCTGACCGCTGGGACCATCATCTCTTATAGGCAAGACCACTCCTAGGCTTGTCTGCAGTTTGTCACAGACTTGGGATCCTTGTTATTTGCTGTCTTGTGTTACAGTTATTAAGGCATATCTGCCGTCTCCCTTTCAAATTAGTCAAGAGCAAGAATAAGACCATATACATCTTTATCCCTGGCAGTGCGTACTGATTACAAATTTGGTATTTAGTAAATGTCTGTTGAATGAATAAGTGAATGATTGAATCTGGAAGACTGACCTTATTTTTTTTCTCTTGAGTATGGAATTAAAAGAAAATTAACATTTTTATATAATTAGTACATGTAGTTTTTATAATCAGAAAAATGTGGATCTTTTTTAAGCCAAAGATCAGCCTGTACTTTGTGTTATTAATATAATCAATTAGTTTATATGAAGGATGGCTTGTTTTTTGTCGTTCTGGCCTTTACAGTTGGGACTCCTGTTGGTAACAGTGTGTCTGCTCTGTTTCTGTATCGCAGCTCTGGTTGTAAGTACCACTGCAGCTGGATTTGCATTGGCTCCGGGCCCTTTTGACTGGCCCTGTTTCCTGCTTACTTCTGTTGGGACAGGCCTTGCATCCTGTGCTGCCAACTCCATCAATCAGGTCAGTTTCTCACTTTCATCTAAATTATGTTATTGTCACTTTTTCCTAGATGGCTGTATTGTCATATTTTTAAATACCTTCCAAACTCATATATTGATGGAGAAGCATTTGTAACACTATATATCCTATAGGAGCCTGTGGGTTTCATAACCAATTTGTCTTTTCTTTTGAGGTGAATGGTTTTCAGATATGTTCAGGTGAGAGAGCAGTAGATTAGATGCTTCAAATGACTAGGATTCCTTGGGTTAAAACATGTTTTTGAGCTGTCATAACTTTCTACTCTTAGTGGTATCTTTGTTTATCCATTTCAGATACATTTCCCTGAGCTTGTCATTGTGCACTACTCTTTCTTGGTTTGATTTCTTTGCATTTTAAACCACTGCTATAAAGAACAGAATATATTTTAACTATGCATATTCAGCTATTTTTAAAAAATCATAATTTAGTACTCAGTTAACTTGGTATATGGAATACGGTTATACCCCAAAATTAGCATATTATTTTTAATACATCCCCCCCTATTATTTTAAACATCAAAATAATTCTCCCAAATAATTTTTTTTCCCATCTAGTCACTGTGGTCTGCCTTAACGTTGTGGCTTTTTCATAAGATATTATAGTGAAAAATTTTGGCCAAAACTTAAGGAAAATCGTTTTCATTACCAGAACACCCAAGAGGAGTTGGCTCAGTTTTAAAACAGGAATTCAAGTTACCAGCAGGAAAACAGCTTGGCTGAGTGGACATATAAGTTGCTAGTGTGCAAAATACGTGAATTTAATGTGATAATGCCTATAGTCATTATGGTTCTACAATATATTGTCAGCTATTTGGAGAAGGATCAATCTATTTCAAATAAGTTTTTTTGTTGTTGTTGTTATTTTGGATGTCAAAACAATCTTATAGTGAGGTTCAAATAGTGCTACCACTTTACCAAAAAGATCATCCCCTTCTATAAAGCAGGACACCATCTCTTCCAAGTAGTTTCTTCCTTTTGCTACCTTCCCATGTTTTCTGGTAAAGAGAATAAACATGATTCCACCATGAACATATTTTTAATGAAAATGCGAATGAAAAGCAATATAAGCCAAATTGATTTATTTGTCCATTTGGGTCTATTTTTTATTTTTAAAAGTTACTACCTCTATTTGGTTATACATCTGGGACCCGAGGTTAAGCCAGGAGCACATTCTAGTTTTCAGCCTCCTTTTCGTAAATTGAAAAGCCACATTTATCCTTGAGATACTAATTATCTTAAGGATTTAAATTATGTTGATTCAAAGAAAATGTTTAAAATAAAATATGGACATTCAGAGAAAAAATAACTAAAAAGCATCAAATGGTTCAGAAGCTCCTAAATATTATAAAAAATAAGAGTTGTTTGAGTTGGAGCTGCTCCTCCTCCCCTCTCATCCCACCCCTTTTCTTTTCAAAAATAGGTAGCTCAAGAATTTATCATGAAAAAAACCTCTCAGTTGGATCAAGAAAGTATTTGGAGGAATAAAAATTGAATGATTTACATTTAGACAGAAATTGAACATAAGCCAAGGTTTTGGAAATTTTAAAAGGATGTGTTTAGGTGGCTGCTTGATTTTTAGTCTGTAGAAGTATTTTTGCTATAGGGAGCGAGTTGGATTCTGTAAATTTTAAAAATACGGGGGAAAGCCACAGAATGCATGTTGGGATTCTTTCTGGTCCTGAAAAGGTGCAGTGTCTGCCTCTTTCCTCCTTAGGCTGGTTTTCCAGCCCTGCTCCGCATCCCACTTACACAGCACTCCTGATCTTCCGCTGGAACTCCGTGTCATGTTCCTCCATGTGTCACTCATCCCACACAGCCCTCTGCAGTGTCCTGAGTGACGTGAGTTCCTCATCAGTGCTTGTGGTACAAGTGAATTTCTCCATCTTTTTGTACCCCTCATATTGCTTCCTTCCACTTGTCTCAGGCTGTGATTTCGTTTGGAAGCATCACAACACTTTAAAAATCTCAACGATTCCCAGTAGAGTAGAATCCT | ACTTCCACTTATAGATTGCCTTCTTGCATTAGACTTTCAGTGACTCTGCACTGCCAACCAACCAAACTACAAACTCCTCAGCTTGCTATTCTGCAGTCTGACATTTGCCACCTTTCCTCCTGTTTTTCCAGTAAATACTGCTCTATGCCTAGCTCAGTGATAGCCCCCCCAAATACAGCAGTGAACTACACAGACAGGGGTCCTACCTTCATGGAGCTTATATTCCAGTGAGGAGTCAGAGTGTAGTAAGTGTCATGAAGGAAATAAAAGGAGGATGTGAGCGAGGGAGTAACTGGGGAGACTTACGTTAGATGAGGTCATCAGGAAGGTTCCCCTTAACAAGTAGTATTTCCAATGGGATCTGAAGGATGAGAAGGAGCCAGCTGTGGAAAGAGGCAAATGAAACAAAAGTACAAGAACCCAGGGACAAGAAAGAGCTTGGAATGCTCAAAGAATAGAAGAAGTCTCATGAATGGATAATAGTGATTGAGCTAAAGAGAAGTGTGAGATGCACTTACTGGCAGAGAAAGAGTTTACATTTTATATCAGGTATAGCATCAAAGAATTTTCAATGTTCAAAGCAGCGATGTGATTTGATCTGTTTTCATTTTAAAAACATCACTCTGAAGAGAAGCAAGATGGAAGCAAGGAGACCAGTTAGGGGGTAAAGCTCTTATGGCAATTGCTTGGACTATGTTAGGGTTTCTCAAGCTCAGCACTACTGGCATTTTAGGCTAGAAAATTATTTGTTGTTGGGGGGTGTCCTATGCACCATAAGATGTTAAGAAGCATCCTCAGCCTTTATCCACTAGAAGACAAGTAGCACCCTCCCCTGCAATCAAAAGTGTTTCCAGACAATGCTAAATGTCCCCTGGGGGGCAAAACTACCCCTGGTTAAGAACTGCTGGACTAAATGCTGGCAGTGTGATGGGTTTGAAACATAGTGTAGAGATAGAACAGACACTACTTTGCAATGAACGGGATATAGCGAGTGACAAAGGAGATAATCAAATATGCTTCCTAGGTTTTTGGTTGAAGAATCTAGGTAGATGGTATCATGCATACTTTGGATTCTTGACATAGGTCTTCCCTTCCCTTGTGCCTGTTCTTGGAATTATCCATGTACCTGTAATGTTGCTCACCCTACCATTCTCTTCCTTTCTCTTCATCCTCTCTAGAAAATCCAACTTAAATGTCATCTTCTTGAAGCTTTCCCAGATTTGCCCACCAATGGTGATCCTTTTTCCAGCGGATTTCTACAGCTGCATATCAGCACCACTCTTGGACACTTTCTGGCCCTGTCAGCTTCTGTAAACCCCAGGAAAGAAGCGCCAGGGCCTACCGAAAAGGAGCAGCCTTGGTGGAAGCTTGAAATGTCTGGCTTTGATTCTGTACCTCGCCTCTTCCCTTGGTTCCTGCTGGTGGCTTGTAGGATTATCATCTCCCACTACGCATTCTCTGACCGCTGGGACCATCATCTCTTATAGGCAAGACCACTCCTAGGCTTGTCTGCAGTTTGTCACAGACTTGGGATCCTTGTTATTTGCTGTCTTGTGTTACAGTTATTAAGGCATATCTGCCGTCTCCCTTTCAAATTAGTCAAGAGCAAGAATAAGACCATATACATCTTTATCCCTGGCAGTGCGTACTGATTACAAATTTGGTATTTAGTAAATGTCTGTTGAATGAATAAGTGAATGATTGAATCTGGAAGACTGACCTTATTTTTTTTCTCTTGAGTATGGAATTAAAAGAAAATTAACATTTTTATATAATTAGTACATGTAGTTTTTATAATCAGAAAAATGTGGATCTTTTTTAAGCCAAAGATCAGCCTGTACTTTGTGTTATTAATATAATCAATTAGTTTATATGAAGGATGGCTTGTTTTTTGTCGTTCTGGCCTTTACAGTTGGGACTCCTGTTGGTAACAGTGTGTCTGCTCTGTTTCTGTATCGCAGCTCTGGTTGTAAGTACCACTGCAGCTGGATTTGCATTGGCTCCGGGCCCTTTTGACTGGCCCTGTTTCCTGCTTACTTCTGTTGGGAAAGGCCTTGCATCCTGTGCTGCCAACTCCATCAATCAGGTCAGTTTCTCACTTTCATCTAAATTATGTTATTGTCACTTTTTCCTAGATGGCTGTATTGTCATATTTTTAAATACCTTCCAAACTCATATATTGATGGAGAAGCATTTGTAACACTATATATCCTATAGGAGCCTGTGGGTTTCATAACCAATTTGTCTTTTCTTTTGAGGTGAATGGTTTTCAGATATGTTCAGGTGAGAGAGCAGTAGATTAGATGCTTCAAATGACTAGGATTCCTTGGGTTAAAACATGTTTTTGAGCTGTCATAACTTTCTACTCTTAGTGGTATCTTTGTTTATCCATTTCAGATACATTTCCCTGAGCTTGTCATTGTGCACTACTCTTTCTTGGTTTGATTTCTTTGCATTTTAAACCACTGCTATAAAGAACAGAATATATTTTAACTATGCATATTCAGCTATTTTTAAAAAATCATAATTTAGTACTCAGTTAACTTGGTATATGGAATACGGTTATACCCCAAAATTAGCATATTATTTTTAATACATCCCCCCCTATTATTTTAAACATCAAAATAATTCTCCCAAATAATTTTTTTTCCCATCTAGTCACTGTGGTCTGCCTTAACGTTGTGGCTTTTTCATAAGATATTATAGTGAAAAATTTTGGCCAAAACTTAAGGAAAATCGTTTTCATTACCAGAACACCCAAGAGGAGTTGGCTCAGTTTTAAAACAGGAATTCAAGTTACCAGCAGGAAAACAGCTTGGCTGAGTGGACATATAAGTTGCTAGTGTGCAAAATACGTGAATTTAATGTGATAATGCCTATAGTCATTATGGTTCTACAATATATTGTCAGCTATTTGGAGAAGGATCAATCTATTTCAAATAAGTTTTTTTGTTGTTGTTGTTATTTTGGATGTCAAAACAATCTTATAGTGAGGTTCAAATAGTGCTACCACTTTACCAAAAAGATCATCCCCTTCTATAAAGCAGGACACCATCTCTTCCAAGTAGTTTCTTCCTTTTGCTACCTTCCCATGTTTTCTGGTAAAGAGAATAAACATGATTCCACCATGAACATATTTTTAATGAAAATGCGAATGAAAAGCAATATAAGCCAAATTGATTTATTTGTCCATTTGGGTCTATTTTTTATTTTTAAAAGTTACTACCTCTATTTGGTTATACATCTGGGACCCGAGGTTAAGCCAGGAGCACATTCTAGTTTTCAGCCTCCTTTTCGTAAATTGAAAAGCCACATTTATCCTTGAGATACTAATTATCTTAAGGATTTAAATTATGTTGATTCAAAGAAAATGTTTAAAATAAAATATGGACATTCAGAGAAAAAATAACTAAAAAGCATCAAATGGTTCAGAAGCTCCTAAATATTATAAAAAATAAGAGTTGTTTGAGTTGGAGCTGCTCCTCCTCCCCTCTCATCCCACCCCTTTTCTTTTCAAAAATAGGTAGCTCAAGAATTTATCATGAAAAAAACCTCTCAGTTGGATCAAGAAAGTATTTGGAGGAATAAAAATTGAATGATTTACATTTAGACAGAAATTGAACATAAGCCAAGGTTTTGGAAATTTTAAAAGGATGTGTTTAGGTGGCTGCTTGATTTTTAGTCTGTAGAAGTATTTTTGCTATAGGGAGCGAGTTGGATTCTGTAAATTTTAAAAATACGGGGGAAAGCCACAGAATGCATGTTGGGATTCTTTCTGGTCCTGAAAAGGTGCAGTGTCTGCCTCTTTCCTCCTTAGGCTGGTTTTCCAGCCCTGCTCCGCATCCCACTTACACAGCACTCCTGATCTTCCGCTGGAACTCCGTGTCATGTTCCTCCATGTGTCACTCATCCCACACAGCCCTCTGCAGTGTCCTGAGTGACGTGAGTTCCTCATCAGTGCTTGTGGTACAAGTGAATTTCTCCATCTTTTTGTACCCCTCATATTGCTTCCTTCCACTTGTCTCAGGCTGTGATTTCGTTTGGAAGCATCACAACACTTTAAAAATCTCAACGATTCCCAGTAGAGTAGAATCCT 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Task1_train_23819 | With a mutation on Chromosome 17 in gene COX10 (cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Mitochondrial complex 4 deficiency, nuclear type 3 | GCATTAGACTTTCAGTGACTCTGCACTGCCAACCAACCAAACTACAAACTCCTCAGCTTGCTATTCTGCAGTCTGACATTTGCCACCTTTCCTCCTGTTTTTCCAGTAAATACTGCTCTATGCCTAGCTCAGTGATAGCCCCCCCAAATACAGCAGTGAACTACACAGACAGGGGTCCTACCTTCATGGAGCTTATATTCCAGTGAGGAGTCAGAGTGTAGTAAGTGTCATGAAGGAAATAAAAGGAGGATGTGAGCGAGGGAGTAACTGGGGAGACTTACGTTAGATGAGGTCATCAGGAAGGTTCCCCTTAACAAGTAGTATTTCCAATGGGATCTGAAGGATGAGAAGGAGCCAGCTGTGGAAAGAGGCAAATGAAACAAAAGTACAAGAACCCAGGGACAAGAAAGAGCTTGGAATGCTCAAAGAATAGAAGAAGTCTCATGAATGGATAATAGTGATTGAGCTAAAGAGAAGTGTGAGATGCACTTACTGGCAGAGAAAGAGTTTACATTTTATATCAGGTATAGCATCAAAGAATTTTCAATGTTCAAAGCAGCGATGTGATTTGATCTGTTTTCATTTTAAAAACATCACTCTGAAGAGAAGCAAGATGGAAGCAAGGAGACCAGTTAGGGGGTAAAGCTCTTATGGCAATTGCTTGGACTATGTTAGGGTTTCTCAAGCTCAGCACTACTGGCATTTTAGGCTAGAAAATTATTTGTTGTTGGGGGGTGTCCTATGCACCATAAGATGTTAAGAAGCATCCTCAGCCTTTATCCACTAGAAGACAAGTAGCACCCTCCCCTGCAATCAAAAGTGTTTCCAGACAATGCTAAATGTCCCCTGGGGGGCAAAACTACCCCTGGTTAAGAACTGCTGGACTAAATGCTGGCAGTGTGATGGGTTTGAAACATAGTGTAGAGATAGAACAGACACTACTTTGCAATGAACGGGATATAGCGAGTGACAAAGGAGATAATCAAATATGCTTCCTAGGTTTTTGGTTGAAGAATCTAGGTAGATGGTATCATGCATACTTTGGATTCTTGACATAGGTCTTCCCTTCCCTTGTGCCTGTTCTTGGAATTATCCATGTACCTGTAATGTTGCTCACCCTACCATTCTCTTCCTTTCTCTTCATCCTCTCTAGAAAATCCAACTTAAATGTCATCTTCTTGAAGCTTTCCCAGATTTGCCCACCAATGGTGATCCTTTTTCCAGCGGATTTCTACAGCTGCATATCAGCACCACTCTTGGACACTTTCTGGCCCTGTCAGCTTCTGTAAACCCCAGGAAAGAAGCGCCAGGGCCTACCGAAAAGGAGCAGCCTTGGTGGAAGCTTGAAATGTCTGGCTTTGATTCTGTACCTCGCCTCTTCCCTTGGTTCCTGCTGGTGGCTTGTAGGATTATCATCTCCCACTACGCATTCTCTGACCGCTGGGACCATCATCTCTTATAGGCAAGACCACTCCTAGGCTTGTCTGCAGTTTGTCACAGACTTGGGATCCTTGTTATTTGCTGTCTTGTGTTACAGTTATTAAGGCATATCTGCCGTCTCCCTTTCAAATTAGTCAAGAGCAAGAATAAGACCATATACATCTTTATCCCTGGCAGTGCGTACTGATTACAAATTTGGTATTTAGTAAATGTCTGTTGAATGAATAAGTGAATGATTGAATCTGGAAGACTGACCTTATTTTTTTTCTCTTGAGTATGGAATTAAAAGAAAATTAACATTTTTATATAATTAGTACATGTAGTTTTTATAATCAGAAAAATGTGGATCTTTTTTAAGCCAAAGATCAGCCTGTACTTTGTGTTATTAATATAATCAATTAGTTTATATGAAGGATGGCTTGTTTTTTGTCGTTCTGGCCTTTACAGTTGGGACTCCTGTTGGTAACAGTGTGTCTGCTCTGTTTCTGTATCGCAGCTCTGGTTGTAAGTACCACTGCAGCTGGATTTGCATTGGCTCCGGGCCCTTTTGACTGGCCCTGTTTCCTGCTTACTTCTGTTGGGACAGGCCTTGCATCCTGTGCTGCCAACTCCATCAATCAGGTCAGTTTCTCACTTTCATCTAAATTATGTTATTGTCACTTTTTCCTAGATGGCTGTATTGTCATATTTTTAAATACCTTCCAAACTCATATATTGATGGAGAAGCATTTGTAACACTATATATCCTATAGGAGCCTGTGGGTTTCATAACCAATTTGTCTTTTCTTTTGAGGTGAATGGTTTTCAGATATGTTCAGGTGAGAGAGCAGTAGATTAGATGCTTCAAATGACTAGGATTCCTTGGGTTAAAACATGTTTTTGAGCTGTCATAACTTTCTACTCTTAGTGGTATCTTTGTTTATCCATTTCAGATACATTTCCCTGAGCTTGTCATTGTGCACTACTCTTTCTTGGTTTGATTTCTTTGCATTTTAAACCACTGCTATAAAGAACAGAATATATTTTAACTATGCATATTCAGCTATTTTTAAAAAATCATAATTTAGTACTCAGTTAACTTGGTATATGGAATACGGTTATACCCCAAAATTAGCATATTATTTTTAATACATCCCCCCCTATTATTTTAAACATCAAAATAATTCTCCCAAATAATTTTTTTTCCCATCTAGTCACTGTGGTCTGCCTTAACGTTGTGGCTTTTTCATAAGATATTATAGTGAAAAATTTTGGCCAAAACTTAAGGAAAATCGTTTTCATTACCAGAACACCCAAGAGGAGTTGGCTCAGTTTTAAAACAGGAATTCAAGTTACCAGCAGGAAAACAGCTTGGCTGAGTGGACATATAAGTTGCTAGTGTGCAAAATACGTGAATTTAATGTGATAATGCCTATAGTCATTATGGTTCTACAATATATTGTCAGCTATTTGGAGAAGGATCAATCTATTTCAAATAAGTTTTTTTGTTGTTGTTGTTATTTTGGATGTCAAAACAATCTTATAGTGAGGTTCAAATAGTGCTACCACTTTACCAAAAAGATCATCCCCTTCTATAAAGCAGGACACCATCTCTTCCAAGTAGTTTCTTCCTTTTGCTACCTTCCCATGTTTTCTGGTAAAGAGAATAAACATGATTCCACCATGAACATATTTTTAATGAAAATGCGAATGAAAAGCAATATAAGCCAAATTGATTTATTTGTCCATTTGGGTCTATTTTTTATTTTTAAAAGTTACTACCTCTATTTGGTTATACATCTGGGACCCGAGGTTAAGCCAGGAGCACATTCTAGTTTTCAGCCTCCTTTTCGTAAATTGAAAAGCCACATTTATCCTTGAGATACTAATTATCTTAAGGATTTAAATTATGTTGATTCAAAGAAAATGTTTAAAATAAAATATGGACATTCAGAGAAAAAATAACTAAAAAGCATCAAATGGTTCAGAAGCTCCTAAATATTATAAAAAATAAGAGTTGTTTGAGTTGGAGCTGCTCCTCCTCCCCTCTCATCCCACCCCTTTTCTTTTCAAAAATAGGTAGCTCAAGAATTTATCATGAAAAAAACCTCTCAGTTGGATCAAGAAAGTATTTGGAGGAATAAAAATTGAATGATTTACATTTAGACAGAAATTGAACATAAGCCAAGGTTTTGGAAATTTTAAAAGGATGTGTTTAGGTGGCTGCTTGATTTTTAGTCTGTAGAAGTATTTTTGCTATAGGGAGCGAGTTGGATTCTGTAAATTTTAAAAATACGGGGGAAAGCCACAGAATGCATGTTGGGATTCTTTCTGGTCCTGAAAAGGTGCAGTGTCTGCCTCTTTCCTCCTTAGGCTGGTTTTCCAGCCCTGCTCCGCATCCCACTTACACAGCACTCCTGATCTTCCGCTGGAACTCCGTGTCATGTTCCTCCATGTGTCACTCATCCCACACAGCCCTCTGCAGTGTCCTGAGTGACGTGAGTTCCTCATCAGTGCTTGTGGTACAAGTGAATTTCTCCATCTTTTTGTACCCCTCATATTGCTTCCTTCCACTTGTCTCAGGCTGTGATTTCGTTTGGAAGCATCACAACACTTTAAAAATCTCAACGATTCCCAGTAGAGTAGAATCCTAGTGTTATCATTATGGTATCAGTCA 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GCATTAGACTTTCAGTGACTCTGCACTGCCAACCAACCAAACTACAAACTCCTCAGCTTGCTATTCTGCAGTCTGACATTTGCCACCTTTCCTCCTGTTTTTCCAGTAAATACTGCTCTATGCCTAGCTCAGTGATAGCCCCCCCAAATACAGCAGTGAACTACACAGACAGGGGTCCTACCTTCATGGAGCTTATATTCCAGTGAGGAGTCAGAGTGTAGTAAGTGTCATGAAGGAAATAAAAGGAGGATGTGAGCGAGGGAGTAACTGGGGAGACTTACGTTAGATGAGGTCATCAGGAAGGTTCCCCTTAACAAGTAGTATTTCCAATGGGATCTGAAGGATGAGAAGGAGCCAGCTGTGGAAAGAGGCAAATGAAACAAAAGTACAAGAACCCAGGGACAAGAAAGAGCTTGGAATGCTCAAAGAATAGAAGAAGTCTCATGAATGGATAATAGTGATTGAGCTAAAGAGAAGTGTGAGATGCACTTACTGGCAGAGAAAGAGTTTACATTTTATATCAGGTATAGCATCAAAGAATTTTCAATGTTCAAAGCAGCGATGTGATTTGATCTGTTTTCATTTTAAAAACATCACTCTGAAGAGAAGCAAGATGGAAGCAAGGAGACCAGTTAGGGGGTAAAGCTCTTATGGCAATTGCTTGGACTATGTTAGGGTTTCTCAAGCTCAGCACTACTGGCATTTTAGGCTAGAAAATTATTTGTTGTTGGGGGGTGTCCTATGCACCATAAGATGTTAAGAAGCATCCTCAGCCTTTATCCACTAGAAGACAAGTAGCACCCTCCCCTGCAATCAAAAGTGTTTCCAGACAATGCTAAATGTCCCCTGGGGGGCAAAACTACCCCTGGTTAAGAACTGCTGGACTAAATGCTGGCAGTGTGATGGGTTTGAAACATAGTGTAGAGATAGAACAGACACTACTTTGCAATGAACGGGATATAGCGAGTGACAAAGGAGATAATCAAATATGCTTCCTAGGTTTTTGGTTGAAGAATCTAGGTAGATGGTATCATGCATACTTTGGATTCTTGACATAGGTCTTCCCTTCCCTTGTGCCTGTTCTTGGAATTATCCATGTACCTGTAATGTTGCTCACCCTACCATTCTCTTCCTTTCTCTTCATCCTCTCTAGAAAATCCAACTTAAATGTCATCTTCTTGAAGCTTTCCCAGATTTGCCCACCAATGGTGATCCTTTTTCCAGCGGATTTCTACAGCTGCATATCAGCACCACTCTTGGACACTTTCTGGCCCTGTCAGCTTCTGTAAACCCCAGGAAAGAAGCGCCAGGGCCTACCGAAAAGGAGCAGCCTTGGTGGAAGCTTGAAATGTCTGGCTTTGATTCTGTACCTCGCCTCTTCCCTTGGTTCCTGCTGGTGGCTTGTAGGATTATCATCTCCCACTACGCATTCTCTGACCGCTGGGACCATCATCTCTTATAGGCAAGACCACTCCTAGGCTTGTCTGCAGTTTGTCACAGACTTGGGATCCTTGTTATTTGCTGTCTTGTGTTACAGTTATTAAGGCATATCTGCCGTCTCCCTTTCAAATTAGTCAAGAGCAAGAATAAGACCATATACATCTTTATCCCTGGCAGTGCGTACTGATTACAAATTTGGTATTTAGTAAATGTCTGTTGAATGAATAAGTGAATGATTGAATCTGGAAGACTGACCTTATTTTTTTTCTCTTGAGTATGGAATTAAAAGAAAATTAACATTTTTATATAATTAGTACATGTAGTTTTTATAATCAGAAAAATGTGGATCTTTTTTAAGCCAAAGATCAGCCTGTACTTTGTGTTATTAATATAATCAATTAGTTTATATGAAGGATGGCTTGTTTTTTGTCGTTCTGGCCTTTACAGTTGGGACTCCTGTTGGTAACAGTGTGTCTGCTCTGTTTCTGTATCGCAGCTCTGGTTGTAAGTACCACTGCAGCTGGATTTGCATTGGCTCCGGGCCCTTTTGACTGGCCCTGTTTCCTGCTTACTTCTGTTGGGACAGGCCTTGCATCCTGTGCTGCCAAATCCATCAATCAGGTCAGTTTCTCACTTTCATCTAAATTATGTTATTGTCACTTTTTCCTAGATGGCTGTATTGTCATATTTTTAAATACCTTCCAAACTCATATATTGATGGAGAAGCATTTGTAACACTATATATCCTATAGGAGCCTGTGGGTTTCATAACCAATTTGTCTTTTCTTTTGAGGTGAATGGTTTTCAGATATGTTCAGGTGAGAGAGCAGTAGATTAGATGCTTCAAATGACTAGGATTCCTTGGGTTAAAACATGTTTTTGAGCTGTCATAACTTTCTACTCTTAGTGGTATCTTTGTTTATCCATTTCAGATACATTTCCCTGAGCTTGTCATTGTGCACTACTCTTTCTTGGTTTGATTTCTTTGCATTTTAAACCACTGCTATAAAGAACAGAATATATTTTAACTATGCATATTCAGCTATTTTTAAAAAATCATAATTTAGTACTCAGTTAACTTGGTATATGGAATACGGTTATACCCCAAAATTAGCATATTATTTTTAATACATCCCCCCCTATTATTTTAAACATCAAAATAATTCTCCCAAATAATTTTTTTTCCCATCTAGTCACTGTGGTCTGCCTTAACGTTGTGGCTTTTTCATAAGATATTATAGTGAAAAATTTTGGCCAAAACTTAAGGAAAATCGTTTTCATTACCAGAACACCCAAGAGGAGTTGGCTCAGTTTTAAAACAGGAATTCAAGTTACCAGCAGGAAAACAGCTTGGCTGAGTGGACATATAAGTTGCTAGTGTGCAAAATACGTGAATTTAATGTGATAATGCCTATAGTCATTATGGTTCTACAATATATTGTCAGCTATTTGGAGAAGGATCAATCTATTTCAAATAAGTTTTTTTGTTGTTGTTGTTATTTTGGATGTCAAAACAATCTTATAGTGAGGTTCAAATAGTGCTACCACTTTACCAAAAAGATCATCCCCTTCTATAAAGCAGGACACCATCTCTTCCAAGTAGTTTCTTCCTTTTGCTACCTTCCCATGTTTTCTGGTAAAGAGAATAAACATGATTCCACCATGAACATATTTTTAATGAAAATGCGAATGAAAAGCAATATAAGCCAAATTGATTTATTTGTCCATTTGGGTCTATTTTTTATTTTTAAAAGTTACTACCTCTATTTGGTTATACATCTGGGACCCGAGGTTAAGCCAGGAGCACATTCTAGTTTTCAGCCTCCTTTTCGTAAATTGAAAAGCCACATTTATCCTTGAGATACTAATTATCTTAAGGATTTAAATTATGTTGATTCAAAGAAAATGTTTAAAATAAAATATGGACATTCAGAGAAAAAATAACTAAAAAGCATCAAATGGTTCAGAAGCTCCTAAATATTATAAAAAATAAGAGTTGTTTGAGTTGGAGCTGCTCCTCCTCCCCTCTCATCCCACCCCTTTTCTTTTCAAAAATAGGTAGCTCAAGAATTTATCATGAAAAAAACCTCTCAGTTGGATCAAGAAAGTATTTGGAGGAATAAAAATTGAATGATTTACATTTAGACAGAAATTGAACATAAGCCAAGGTTTTGGAAATTTTAAAAGGATGTGTTTAGGTGGCTGCTTGATTTTTAGTCTGTAGAAGTATTTTTGCTATAGGGAGCGAGTTGGATTCTGTAAATTTTAAAAATACGGGGGAAAGCCACAGAATGCATGTTGGGATTCTTTCTGGTCCTGAAAAGGTGCAGTGTCTGCCTCTTTCCTCCTTAGGCTGGTTTTCCAGCCCTGCTCCGCATCCCACTTACACAGCACTCCTGATCTTCCGCTGGAACTCCGTGTCATGTTCCTCCATGTGTCACTCATCCCACACAGCCCTCTGCAGTGTCCTGAGTGACGTGAGTTCCTCATCAGTGCTTGTGGTACAAGTGAATTTCTCCATCTTTTTGTACCCCTCATATTGCTTCCTTCCACTTGTCTCAGGCTGTGATTTCGTTTGGAAGCATCACAACACTTTAAAAATCTCAACGATTCCCAGTAGAGTAGAATCCTAGTGTTATCATTATGGTATCAGTCA 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Task1_train_23820 | Consider this mutation in COX10 (cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Mitochondrial complex 4 deficiency, nuclear type 3 | GCCTGTAATCTCTGTACTTTGAGAGGCTGAGGCAGGAGGATTGCTTGGGGCCAGGAGTTCAAGGCCAGCCTGGGCAACATGGTGAGACCCCATCTCTACAAAAAGTTGTTTTAAAAAGTTTTCTGAGTTTGGTGACGTGCACCTATAGTGCCAGCTATTCAGGAGGCTGAGGCAGGAGGATGACTTGAGCCCAAGAGATCGAGGCTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCAACCTTGTCCTGAGGAACTTTCCCTGTCATTCTCAGCACTCCAGCCAAACCACACCACCTTCCTTTTTTTTTAATCATGCAATAAAATTGACTTTTTAAATATATATAGTTCTGTGACTCCTAACACGTGTTAATCTTCTTTTTTACACCGCCCACACCTCAAACCTTCCAGCCCCAAGGCCTTTATGAATACTGTCCCCTCCACCAGCCCTGACTTGACAAAGTCACCACTCTCTCCAGCTCAGCTGAGACATCCCTTCCTCAGAGAAGCCACCTCTGGTCCCCTAGACTCAGTCAGCTCCTCTTATGTGTCTTCACTGCACCATGCACTTTTCCTCACTGCATTTGGAGTGGTGACTTTAGAGTCACTAGTGTGGCTCTTGATGTCTACCTCCTTGACTGAAGGGTCTGCTCGGTGCAGGCAGGAGCACGTGTGGATTGTTGCTCGCCATGGTATCCCCAGTGCCTAGCACGGTGCTTACCCCATAGTAGGCGCCCGGGGAGCATTTTTTGCGCGAGTACTCAGTCACCTGCACAGGAATAACCAGCCCCTGCCTTCCAGCCCCCACCCTACTGCCTGTCCTTAGGTGGCTTCGTGCATGTCATAGAAGGACCCTGGCCTGAAAATCAAGCAGCCTTGTTTTGAATTGCTCTTCCGTCTCTTTTTGGAGAACTTGGCATTGCCTAATTTTTTTTTTCACTGAAGTTTATAAATCTACCTCAAAATCCAATGGTCAAGATTAAATGGGGCAAACTATGAGAGTAGGGTCTGTCACATAATAGGAGCTCAGCGAGCAGCAGCCTTCATTCCACCCATGTGGGTGCTGGGGAGACTGTTCCAGAGAAAGGGGCAAAATGGTGCTCAGGGTGTTATGTCCTTGTTGAAAAATTACAAAGCCATAGACAAGTTATCATTGTACTCTGGGACCGTTTTGTCCTTGTGACTCATTTTATTTAACACATGTGGTTTTGACACCTCCCGCTTGTGCCATTGTGCCAGGCTCTGGGGGATGGTGAGAGGAATGTGGCAGGCTTGTGCCCTGGAAGCCCTGGTGAAAGAGGTAAACAGATCAGAGCCAGGGTGTGACGCACCCGCCTGCAGGTACATCCGGCTCTGTGTCAGTGCTGAGCCAGGAGCACTGACTGCCCTGGAAAGGGAGCCAGGGCTCACAGAACAGGCGGAGCGGACTTGCAGCGTCCTCCAGGTTACAGCACTGCTTCCACCTGCCTGAAGCCACACACCCGGGTCCCAGCGGGCGGAAATGGAGCTCAGCGCTCCAGCACAATGGTTGCACCCAGAGGTAGTACTGAAGTAGATACTGAATTCCCTACAAGTGTTTGCCCGTGTGTAGGGGCTTCTTTGCTCCCCACAATGTGGGGAGGTGTGAGGAGCATCAGGTGGGCAGGAGCCAGCGATGGTAAGCGTCCTGCAGCGCAGGCAGCCCCCCTGTGAAGCAGGGTCTGAGCCAGACCCCACAGCCTCCTGCCCCCAGGCACACTGGCACCCCCAGGTGAGAAAGGAGGGATCTTAGCTCATCGGCTGCCCCACCAGCCTGATGTAGGCACCTGTCTCCCAGCCACCCTGTGATGTAGGCAGGCAGCGATGAGAGCACAGGGTGGCAGAGCTTCTGAGGTGCCAGGCAGGCTCTCCCAGGAGAGGAAACCATTCTTTGGAAATCTCTGGTGATGACTGCCTTTGTCTCCCTCTCCTTCCCTGACCCCCGCACAGGCGCATTTCTCCTGGGAGGAATCCTCTACTCCTGGCAGTTTCCTCATTTCAACGCCCTGAGCTGGGGCCTCCGTGAAGACTACTCCCGGGGCGGCTACTGCATGATGTCGGTCACCCACCCGGGCCTGTGCCGGCGCGTGGCGCTGCGCCACTGCCTGGCCCTGCTCGTGCTGTCCGCAGCAGCCCCTGTGCTGGACATCACCACATGGACCTTCCCCATCATGGCCCTTCCCATCAATGCGTACATCTCCTACCTCGGCTTCCGCTTCTACGTGGACGCAGACCGCAGGAGCTCGCGGAGACTGTTCTTCTGCAGCCTGTGGCACCTGCCGCTGCTGCTGCTGCTCATGCTCACCTGCAAGCGGCCGAGCGGAGGCGGGGACGCAGGGCCCCCTCCCAGCTGAGAGCACTGGGACGCCCACCGCCCCTTTCCCTCCGCTGCCAGGCGAGCATGTTGTGGTAATTCTGGAACACAAGAAGAGAAATTGCTGGGTTTAGAACAAGATTATAAACGAATTCGGTGCTCAGTGATCACTTGACAGTTTTTTTTTTTTTTAAATATTACCCAAAATGCTCCCCAAATAAGAAATGCATCAGCTCAGTCAGTGAATACAAAAAAGGAATTATTTTTCCCTTTGAGGGTCTTTATACATCTCTCCTCCAACCCCACCCTCTATTCTGTTTCTTCCTCCTCACATGGGGGTACACATACACAGCTTCCTCTTTTGGTTCCATCCTTACCACCACACCACACGCACACTCCACATGCCCAGCAGAGTGGCACTTGGTGGCCAGAAAGTGTGAGCCTCATGATCTGCTGTCTGTAGTTCTGTGAGCTCAGGTCCCTCAAAGGCCTCGGAGCACCCCCTTCCTGGTGACTGAGCCAGGGCCTGCATTTTTGGTTTTCCCCACCCCACACATTCTCAACCATAGTCCTTCTAACAATACCAATAGCTAGGACCCGGCTGCTGTGCACTGGGACTGGGGATTCCACATGTTTGCCTTGGGAGTCTCAAGCTGGACTGCCAGCCCCTGTCCTCCCTTCACCCCCATTGCGTATGAGCATTTCAGAACTCCAAGGAGTCACAGGCATCTTTATAGTTCACGTTAACATATAGACACTGTTGGAAGCAGTTCCTTCTAAAAGGGTAGCCCTGGACTTAATACCAGCCGGATACCTCTGGCCCCCACCCCATTACTGTACCTCTGGAGTCACTACTGTGGGTCGCCACTCCTCTGCTACACAGCACGGCTTTTTCAAGGCTGTATTGAGAAGGGAAGTTAGGAAGAAGGGTGTGCTGGGCTAACCAGCCCACAGAGCTCACATTCCTGTCCCTTGGGTGAAAAATACATGTCCATCCTGATATCTCCTGAATTCAGAAATTAGCCTCCACATGTGCAATGGCTTTAAGAGCCAGAAGCAGGGTTCTGGGAATTTTGCAAGTTATCCTGTGGCCAGGTGTGGTCTCGGTTACCAAATACGGTTACCTGCAGCTTTTTAGTCCTTTGTGCTCCCACGGGTCTGCAGAGTCCCATCTGCCCAAAGGTCTTGAAGCTTGACAGGATGTTTTCATTACTCAGTCTCCCAGGGCACTGCTGGTCCGTAGGGATTCATTGGTCGGGGTGGGAGAGTTAAACAACATTTAAACAGAGTTCTCTCAAAAATGTCTAAAGGGATTGTAGGTAGATAACATCCAATCACTGTTTGCACTTATCTGAAATCTTCCCTCTTGGCTGCCCCCAGGTATTTACTGTGGAGAACATTGCATAGGAATGTCTGGAAAAAGCCTCTACAACTTGTTACAGCCTTCACATTTGTACAATTCATTGATTCTCTTTTCCTTCCACAATAAAATGGTATACAAGAACAGGAGTGTGTGTGACGTCATTGGAAGTAATCATCCTGTGCTGAGTTCGCACAGTTCTTGGTAGAACCGACACTTGATCACGCCTTCAAGAGCTGGCAGAGGGTGCGTGGGAGGTTGGTTTTGTTTCGTAAATTGACAAATTGTAGTTGTGTATATTTATGAGGTAATAAAGTGATGTTATGATTTATGAAGACAATTGAAATAATGAAATCAAGCTGATGAATGTATTCATTACCTCAGATACTTATTTTTGTGATA 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GCCTGTAATCTCTGTACTTTGAGAGGCTGAGGCAGGAGGATTGCTTGGGGCCAGGAGTTCAAGGCCAGCCTGGGCAACATGGTGAGACCCCATCTCTACAAAAAGTTGTTTTAAAAAGTTTTCTGAGTTTGGTGACGTGCACCTATAGTGCCAGCTATTCAGGAGGCTGAGGCAGGAGGATGACTTGAGCCCAAGAGATCGAGGCTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCAACCTTGTCCTGAGGAACTTTCCCTGTCATTCTCAGCACTCCAGCCAAACCACACCACCTTCCTTTTTTTTTAATCATGCAATAAAATTGACTTTTTAAATATATATAGTTCTGTGACTCCTAACACGTGTTAATCTTCTTTTTTACACCGCCCACACCTCAAACCTTCCAGCCCCAAGGCCTTTATGAATACTGTCCCCTCCACCAGCCCTGACTTGACAAAGTCACCACTCTCTCCAGCTCAGCTGAGACATCCCTTCCTCAGAGAAGCCACCTCTGGTCCCCTAGACTCAGTCAGCTCCTCTTATGTGTCTTCACTGCACCATGCACTTTTCCTCACTGCATTTGGAGTGGTGACTTTAGAGTCACTAGTGTGGCTCTTGATGTCTACCTCCTTGACTGAAGGGTCTGCTCGGTGCAGGCAGGAGCACGTGTGGATTGTTGCTCGCCATGGTATCCCCAGTGCCTAGCACGGTGCTTACCCCATAGTAGGCGCCCGGGGAGCATTTTTTGCGCGAGTACTCAGTCACCTGCACAGGAATAACCAGCCCCTGCCTTCCAGCCCCCACCCTACTGCCTGTCCTTAGGTGGCTTCGTGCATGTCATAGAAGGACCCTGGCCTGAAAATCAAGCAGCCTTGTTTTGAATTGCTCTTCCGTCTCTTTTTGGAGAACTTGGCATTGCCTAATTTTTTTTTTCACTGAAGTTTATAAATCTACCTCAAAATCCAATGGTCAAGATTAAATGGGGCAAACTATGAGAGTAGGGTCTGTCACATAATAGGAGCTCAGCGAGCAGCAGCCTTCATTCCACCCATGTGGGTGCTGGGGAGACTGTTCCAGAGAAAGGGGCAAAATGGTGCTCAGGGTGTTATGTCCTTGTTGAAAAATTACAAAGCCATAGACAAGTTATCATTGTACTCTGGGACCGTTTTGTCCTTGTGACTCATTTTATTTAACACATGTGGTTTTGACACCTCCCGCTTGTGCCATTGTGCCAGGCTCTGGGGGATGGTGAGAGGAATGTGGCAGGCTTGTGCCCTGGAAGCCCTGGTGAAAGAGGTAAACAGATCAGAGCCAGGGTGTGACGCACCCGCCTGCAGGTACATCCGGCTCTGTGTCAGTGCTGAGCCAGGAGCACTGACTGCCCTGGAAAGGGAGCCAGGGCTCACAGAACAGGCGGAGCGGACTTGCAGCGTCCTCCAGGTTACAGCACTGCTTCCACCTGCCTGAAGCCACACACCCGGGTCCCAGCGGGCGGAAATGGAGCTCAGCGCTCCAGCACAATGGTTGCACCCAGAGGTAGTACTGAAGTAGATACTGAATTCCCTACAAGTGTTTGCCCGTGTGTAGGGGCTTCTTTGCTCCCCACAATGTGGGGAGGTGTGAGGAGCATCAGGTGGGCAGGAGCCAGCGATGGTAAGCGTCCTGCAGCGCAGGCAGCCCCCCTGTGAAGCAGGGTCTGAGCCAGACCCCACAGCCTCCTGCCCCCAGGCACACTGGCACCCCCAGGTGAGAAAGGAGGGATCTTAGCTCATCGGCTGCCCCACCAGCCTGATGTAGGCACCTGTCTCCCAGCCACCCTGTGATGTAGGCAGGCAGCGATGAGAGCACAGGGTGGCAGAGCTTCTGAGGTGCCAGGCAGGCTCTCCCAGGAGAGGAAACCATTCTTTGGAAATCTCTGGTGATGACTGCCTTTGTCTCCCTCTCCTTCCCTGACCCCCGCACAGGCGCATTTCTCCTGGGAGGAATCCTCTACTCCTGGCAGTTTCCTCATTTCAACGCCCTGAGCTGGGGCCTCCGTGAAGGCTACTCCCGGGGCGGCTACTGCATGATGTCGGTCACCCACCCGGGCCTGTGCCGGCGCGTGGCGCTGCGCCACTGCCTGGCCCTGCTCGTGCTGTCCGCAGCAGCCCCTGTGCTGGACATCACCACATGGACCTTCCCCATCATGGCCCTTCCCATCAATGCGTACATCTCCTACCTCGGCTTCCGCTTCTACGTGGACGCAGACCGCAGGAGCTCGCGGAGACTGTTCTTCTGCAGCCTGTGGCACCTGCCGCTGCTGCTGCTGCTCATGCTCACCTGCAAGCGGCCGAGCGGAGGCGGGGACGCAGGGCCCCCTCCCAGCTGAGAGCACTGGGACGCCCACCGCCCCTTTCCCTCCGCTGCCAGGCGAGCATGTTGTGGTAATTCTGGAACACAAGAAGAGAAATTGCTGGGTTTAGAACAAGATTATAAACGAATTCGGTGCTCAGTGATCACTTGACAGTTTTTTTTTTTTTTAAATATTACCCAAAATGCTCCCCAAATAAGAAATGCATCAGCTCAGTCAGTGAATACAAAAAAGGAATTATTTTTCCCTTTGAGGGTCTTTATACATCTCTCCTCCAACCCCACCCTCTATTCTGTTTCTTCCTCCTCACATGGGGGTACACATACACAGCTTCCTCTTTTGGTTCCATCCTTACCACCACACCACACGCACACTCCACATGCCCAGCAGAGTGGCACTTGGTGGCCAGAAAGTGTGAGCCTCATGATCTGCTGTCTGTAGTTCTGTGAGCTCAGGTCCCTCAAAGGCCTCGGAGCACCCCCTTCCTGGTGACTGAGCCAGGGCCTGCATTTTTGGTTTTCCCCACCCCACACATTCTCAACCATAGTCCTTCTAACAATACCAATAGCTAGGACCCGGCTGCTGTGCACTGGGACTGGGGATTCCACATGTTTGCCTTGGGAGTCTCAAGCTGGACTGCCAGCCCCTGTCCTCCCTTCACCCCCATTGCGTATGAGCATTTCAGAACTCCAAGGAGTCACAGGCATCTTTATAGTTCACGTTAACATATAGACACTGTTGGAAGCAGTTCCTTCTAAAAGGGTAGCCCTGGACTTAATACCAGCCGGATACCTCTGGCCCCCACCCCATTACTGTACCTCTGGAGTCACTACTGTGGGTCGCCACTCCTCTGCTACACAGCACGGCTTTTTCAAGGCTGTATTGAGAAGGGAAGTTAGGAAGAAGGGTGTGCTGGGCTAACCAGCCCACAGAGCTCACATTCCTGTCCCTTGGGTGAAAAATACATGTCCATCCTGATATCTCCTGAATTCAGAAATTAGCCTCCACATGTGCAATGGCTTTAAGAGCCAGAAGCAGGGTTCTGGGAATTTTGCAAGTTATCCTGTGGCCAGGTGTGGTCTCGGTTACCAAATACGGTTACCTGCAGCTTTTTAGTCCTTTGTGCTCCCACGGGTCTGCAGAGTCCCATCTGCCCAAAGGTCTTGAAGCTTGACAGGATGTTTTCATTACTCAGTCTCCCAGGGCACTGCTGGTCCGTAGGGATTCATTGGTCGGGGTGGGAGAGTTAAACAACATTTAAACAGAGTTCTCTCAAAAATGTCTAAAGGGATTGTAGGTAGATAACATCCAATCACTGTTTGCACTTATCTGAAATCTTCCCTCTTGGCTGCCCCCAGGTATTTACTGTGGAGAACATTGCATAGGAATGTCTGGAAAAAGCCTCTACAACTTGTTACAGCCTTCACATTTGTACAATTCATTGATTCTCTTTTCCTTCCACAATAAAATGGTATACAAGAACAGGAGTGTGTGTGACGTCATTGGAAGTAATCATCCTGTGCTGAGTTCGCACAGTTCTTGGTAGAACCGACACTTGATCACGCCTTCAAGAGCTGGCAGAGGGTGCGTGGGAGGTTGGTTTTGTTTCGTAAATTGACAAATTGTAGTTGTGTATATTTATGAGGTAATAAAGTGATGTTATGATTTATGAAGACAATTGAAATAATGAAATCAAGCTGATGAATGTATTCATTACCTCAGATACTTATTTTTGTGATA 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Task1_train_23821 | Here’s a variant in PMP22 (peripheral myelin protein 22) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Charcot-Marie-Tooth disease, type I | TTGGCATCCCCATTTTATAGATGAGAAAACTGAATCTTAGTGTTTACGTAACCTTTTCAGGCCCCTATGGCTGGTAAGCAGCAAAGGACAGGCTCAAACCCAGGCTCTCATTTCTATGCTCTTAACCTTATTATAATATAGTCACTTGTTTACTTGTACCTCTCACTAAAATGTGACCTTTCGATGTTAAGATATATGTCATTACTTCTTTATCTTTGGTACCCAATTCAAAATAGTTGCACAATAAATATTAAGGACTATCAACCACATCATTTGCTTGTTATTTTGCAGACACACAACAAAAGGTCGACGGGTAAAAATATGGACGCATGAGACACAACTCAGAAACCCTGAGCTGGGTGACAATGGTGGCCTTTTCTCTCCTTCAGGATGGCATTAGGAGCTTAGTTGGTGCCAACCAATGTTTTATCTGCAAGTGTGGCCTCAAGTCACCATCATTCAGACCTTTCACCATATCATACCTCAGGGTGAGGGATCTGAGATGCTTCTGCCAACATTCCCAGTATATCAGGGCAGCTCATGACATGCCTCCATGTTTTCCATGTGGGTCATCAAACAACAGAGCACCAGAGAGGGTTGAACTAAATGAATACTCAAGTGCCTTCCAGTCCATTTACAGCCTCCATTTCAGCTGCAATTCCCAACTGTCTCCAATTAGCAAACCTTTGCACAGACATCATGAAGGCATCATGTGCTCCCTGTAGCTTGTAAAACAGCTATGATTTTGGTGCCTTAGCACCATCTTGTAACCCAAATCTCCAGCTCAACTTTGCTTTCCACTGAAGCTCTTCATCCTGCTCCAACAGGCACCTTGTACCCACACCCAAGTTCCCACAAAAACTCAAGAGAGACCAGTGAGTTACTCTGATGTTTATTTTAATGCATCTTAGTCCACACAGTTGGTATAAAATCAGAAAATGCAAAGCAAAAACAAAAGGTCTGGAGTCTTAGCATCAGAAGGGCACCATATATACATCTACAGTTGGTGGCCAATACAAGTCATTGCCAGACAGTCCTTGGAGGCACAGAACAGCCTAGACCCAGCCAAGCTCTAGGAACTCACGGTCCCAAGGAGTCTAGACGCTTGTTCTGATGCTCCGACCGTAAGAAAAATGTGGGAGTGATGAAGGCTTTATGATTTACTCATTATAGTAATAATAGCAGCCTAGCTAGGTACAAAAGCAGTTATAAACCATTTATATTACACAGAATTATTCAGGTCTCCATTCTATCTTATGTTGTAAAATTGTTAATTGGATTTCCAGTGAGTTGTTTAGATGATTAGTGATAATAAGGAATGGTAAATCCATAGCACCATTTCAAAGACTTGTTGTCACTGATTTCTCATTTAGATGTGTGACGAAGATACTCCACCTGTAAGGGCAAGTATGCCAATGCCACAAGCCGTGTTTTTGCAAGGGCTCCAGTTTGGGCATTTTGTCCGTGTGCGCGTAAAGCTTCACACAGAGGTTCGGGCAGCGGCTGTTTCTGTTGGATGCACTGGGTCACCCACCAGAAAAGGGCTTTTGGACATTTGGGGTTTCTACCCACACTTTGGTTTTCTAAATGAGGTGGACTGGGAGGGAGGTATCTTCTTTCAGATGAAAGGGAAGGGGCGAGATGGAGTTATCTTATTTCTGGGTAAAACAAAACAAACAAACAAAAAACAAAACAAAAATACTGAGCTGGATTATACTGTTAGGATGTAAAGTTCCTTAGCTACTTCTTTAAGGCTCAACACGAGGCTGATGGTCAACATAAAAAGCAAACAATACTATGTACATATATGTAAAAAGTGTTATAAATAGGTTTTATAAACCGGAGATATTATATACATCTTCAATCAACAGCAACCCCCACCTCCACTGCTTTCTGTTTGGTTTGGTTTGAGTTTGGGATTTTGGGCTAGCTCTTTTTTCTTTGTCTGCTTTCTGTTTTCCCTTCCTCCCTTCCCTATGTACGCTCAGAGCCTCAGACAGACCGTCTGGGCGCCTCATTCGCGTTTCCGCAAGATCACATAGATGACACCGCTGAGAAGGGCCAGGGGGAAGGCCACCCAGGCCAGGATGTAGGCGAAACCGTAGGAGTAATCCGAGTTGAGATGCCACTCCGGGTGCCTCACCGTGTAGATGGCCGCAGCACTCATCACGCACAGACCTGGGGAAGGAGAGGGACAAGCTGGGTGACGGAGAGTCCATGGCAGAGCGGCCCCCTCTCCGCCACCCCGGATGCTGACAATTGCTGGGTAGGAAGAACATTTCTACCTCTGGAAGGAAATCTGCTTCCAGGTCCAGAATTGAAAGGAGGTAGCACAAAAATATGGGAACAAGGAAAACAACTTGCTCTCTATTTCCAATCTTGGCCACCTAGGCCTTAATACCTGAGGGTTTTCTTTACATTTTCTGCCCTATTTCTCTTTCTTTCACTGTCACCAATTCCCAGGCCACACTACATGGCCAGCAGGCATTCAGGCTGCAAGAAAAACCTACCTGTCTCTTTCCAAGGGTGGTTGGGTATGGAAACCCCTGGAAATCTATATGCCACTCTACAAGTGAGTGGTGGCATTACCTAAAGCCAATGGAAGTGAAGTGACATTTTACCATTATTGGAGTCACGCCATGGTAAAAGGATTAAGCTCCATGCAGACCACAGGGGCCTATGGTCCCCCTAACAGAGTTGCCACATACCAGGTGAAGCAAGCAATGCCTATGGGCACTGCCAAACAGACAAAGAAATGTGTGGAGAGGGAAAAAGAAAGTGAGGAATAAGGATGCAGCCGACAGTATGACTGGGAAGCCACGCTGCAGAGGGGGAAGATGATCAAAGGCAAGCTCCATTTCCCTGGGTGCCCCAAGGTTGCATTTGAAGCCCAAAGAAGGCTAAAGGGCACTGGATATGCAGGTGGGTCAGGCCACCCTCCCTGGCCCACCAATGCAGCCCTTCGGTGTTGGAAAGAGAAGAAAAGCCTCCATCTTGGGCCCTGTGGAGCAGCCACGCTCAAACTGATGGCCCCAGCTCACGTGACAGACAGCGTCCCCCCACAAGGAGGGGTCCAGTGATGTCAGCACCCCAGCCTGGAGCTGCACAAAGCCTGGTCTGTTTCCTCCCTGAAAACAGGGTCTTTGAGAAGCTCTGAGTGACTCTATTATAAATCCAGTATGCCGTGTGGGATTCATGCAGTTCCAGAGTTCCCAATGCACCCGCGCCCCCCCACCGCCCGGCCACCTACATCTAACCTCACTGCTATTTGGGCTGCTGTTTTACTGGACACTGCAACTTTGTTTGAAGACAGTGCAGAAGTGGGAATACGCCACATGAACCACCCTGTTAAGCCTGTCCTCCTGCAACTCAGAGGAGAAAACTGCCACTTGACTGGCCCCTGTCAAGAGAGCCACACAATAGTCTTGGAACCAAAATGGGACAGCATCCAGGACCTGCCACCTACAGGAAGTTCAGAAGACAGCAAAGATGGCCATGTCAGGAGCGAAATCATTGCGGGTTAATTGTTGATTGCAGAAAACAGCAGTTTTGATCTGCTGGGGACACACTTTATTTGCCTTGAGGTCCAGGATCCTTAATTATCTTGCCCCACTCTTCCACGGCTTGCATCTCCAAAGTGCTAACTCTTGTCTTTAAGAAATACTGAAGTTGTCTCTTGGGCTCTGTCTGACTTATCTAATGAAGGCAGGGCTATAAAAAAGGAAACATGACCTTGGCAGAGAGAAAGGTGTTAACAGAGTGCTAGCAGGGCAGGACAACACTTATCATCATGCAGGCAGGGCTCCCAAATGGGCTGTCTAACCAGATCTGGCATGAGAAATGCCTCAGGAGCTGAGTGGACCAGCTACTCCCCGATTTCACTGACTAAGAGGAGATACCAGATTCCATCCTTGAACAAGAGGGATAGAAAGAGGCAGTATAGAGAAGTGCAGCGACTAACTACACAGCTTAATGTGTATGACTTTCATCTTAGTAGAATCTCAGAAGTGAATGACTCTAAGCTTAACCGTGATAAGCAGTAAACTTAGATATCTACAAAGCCAAAGAGAGGATACACACTTTATATGATTGTTGT 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TTGGCATCCCCATTTTATAGATGAGAAAACTGAATCTTAGTGTTTACGTAACCTTTTCAGGCCCCTATGGCTGGTAAGCAGCAAAGGACAGGCTCAAACCCAGGCTCTCATTTCTATGCTCTTAACCTTATTATAATATAGTCACTTGTTTACTTGTACCTCTCACTAAAATGTGACCTTTCGATGTTAAGATATATGTCATTACTTCTTTATCTTTGGTACCCAATTCAAAATAGTTGCACAATAAATATTAAGGACTATCAACCACATCATTTGCTTGTTATTTTGCAGACACACAACAAAAGGTCGACGGGTAAAAATATGGACGCATGAGACACAACTCAGAAACCCTGAGCTGGGTGACAATGGTGGCCTTTTCTCTCCTTCAGGATGGCATTAGGAGCTTAGTTGGTGCCAACCAATGTTTTATCTGCAAGTGTGGCCTCAAGTCACCATCATTCAGACCTTTCACCATATCATACCTCAGGGTGAGGGATCTGAGATGCTTCTGCCAACATTCCCAGTATATCAGGGCAGCTCATGACATGCCTCCATGTTTTCCATGTGGGTCATCAAACAACAGAGCACCAGAGAGGGTTGAACTAAATGAATACTCAAGTGCCTTCCAGTCCATTTACAGCCTCCATTTCAGCTGCAATTCCCAACTGTCTCCAATTAGCAAACCTTTGCACAGACATCATGAAGGCATCATGTGCTCCCTGTAGCTTGTAAAACAGCTATGATTTTGGTGCCTTAGCACCATCTTGTAACCCAAATCTCCAGCTCAACTTTGCTTTCCACTGAAGCTCTTCATCCTGCTCCAACAGGCACCTTGTACCCACACCCAAGTTCCCACAAAAACTCAAGAGAGACCAGTGAGTTACTCTGATGTTTATTTTAATGCATCTTAGTCCACACAGTTGGTATAAAATCAGAAAATGCAAAGCAAAAACAAAAGGTCTGGAGTCTTAGCATCAGAAGGGCACCATATATACATCTACAGTTGGTGGCCAATACAAGTCATTGCCAGACAGTCCTTGGAGGCACAGAACAGCCTAGACCCAGCCAAGCTCTAGGAACTCACGGTCCCAAGGAGTCTAGACGCTTGTTCTGATGCTCCGACCGTAAGAAAAATGTGGGAGTGATGAAGGCTTTATGATTTACTCATTATAGTAATAATAGCAGCCTAGCTAGGTACAAAAGCAGTTATAAACCATTTATATTACACAGAATTATTCAGGTCTCCATTCTATCTTATGTTGTAAAATTGTTAATTGGATTTCCAGTGAGTTGTTTAGATGATTAGTGATAATAAGGAATGGTAAATCCATAGCACCATTTCAAAGACTTGTTGTCACTGATTTCTCATTTAGATGTGTGACGAAGATACTCCACCTGTAAGGGCAAGTATGCCAATGCCACAAGCCGTGTTTTTGCAAGGGCTCCAGTTTGGGCATTTTGTCCGTGTGCGCGTAAAGCTTCACACAGAGGTTCGGGCAGCGGCTGTTTCTGTTGGATGCACTGGGTCACCCACCAGAAAAGGGCTTTTGGACATTTGGGGTTTCTACCCACACTTTGGTTTTCTAAATGAGGTGGACTGGGAGGGAGGTATCTTCTTTCAGATGAAAGGGAAGGGGCGAGATGGAGTTATCTTATTTCTGGGTAAAACAAAACAAACAAACAAAAAACAAAACAAAAATACTGAGCTGGATTATACTGTTAGGATGTAAAGTTCCTTAGCTACTTCTTTAAGGCTCAACACGAGGCTGATGGTCAACATAAAAAGCAAACAATACTATGTACATATATGTAAAAAGTGTTATAAATAGGTTTTATAAACCGGAGATATTATATACATCTTCAATCAACAGCAACCCCCACCTCCACTGCTTTCTGTTTGGTTTGGTTTGAGTTTGGGATTTTGGGCTAGCTCTTTTTTCTTTGTCTGCTTTCTGTTTTCCCTTCCTCCCTTCCCTATGTACGCTCAGAGCCTCAGACAGACCGTCTGGGCGCCTCATTCGCGTTTCCGCAAGATCACATAGATGACAACGCTGAGAAGGGCCAGGGGGAAGGCCACCCAGGCCAGGATGTAGGCGAAACCGTAGGAGTAATCCGAGTTGAGATGCCACTCCGGGTGCCTCACCGTGTAGATGGCCGCAGCACTCATCACGCACAGACCTGGGGAAGGAGAGGGACAAGCTGGGTGACGGAGAGTCCATGGCAGAGCGGCCCCCTCTCCGCCACCCCGGATGCTGACAATTGCTGGGTAGGAAGAACATTTCTACCTCTGGAAGGAAATCTGCTTCCAGGTCCAGAATTGAAAGGAGGTAGCACAAAAATATGGGAACAAGGAAAACAACTTGCTCTCTATTTCCAATCTTGGCCACCTAGGCCTTAATACCTGAGGGTTTTCTTTACATTTTCTGCCCTATTTCTCTTTCTTTCACTGTCACCAATTCCCAGGCCACACTACATGGCCAGCAGGCATTCAGGCTGCAAGAAAAACCTACCTGTCTCTTTCCAAGGGTGGTTGGGTATGGAAACCCCTGGAAATCTATATGCCACTCTACAAGTGAGTGGTGGCATTACCTAAAGCCAATGGAAGTGAAGTGACATTTTACCATTATTGGAGTCACGCCATGGTAAAAGGATTAAGCTCCATGCAGACCACAGGGGCCTATGGTCCCCCTAACAGAGTTGCCACATACCAGGTGAAGCAAGCAATGCCTATGGGCACTGCCAAACAGACAAAGAAATGTGTGGAGAGGGAAAAAGAAAGTGAGGAATAAGGATGCAGCCGACAGTATGACTGGGAAGCCACGCTGCAGAGGGGGAAGATGATCAAAGGCAAGCTCCATTTCCCTGGGTGCCCCAAGGTTGCATTTGAAGCCCAAAGAAGGCTAAAGGGCACTGGATATGCAGGTGGGTCAGGCCACCCTCCCTGGCCCACCAATGCAGCCCTTCGGTGTTGGAAAGAGAAGAAAAGCCTCCATCTTGGGCCCTGTGGAGCAGCCACGCTCAAACTGATGGCCCCAGCTCACGTGACAGACAGCGTCCCCCCACAAGGAGGGGTCCAGTGATGTCAGCACCCCAGCCTGGAGCTGCACAAAGCCTGGTCTGTTTCCTCCCTGAAAACAGGGTCTTTGAGAAGCTCTGAGTGACTCTATTATAAATCCAGTATGCCGTGTGGGATTCATGCAGTTCCAGAGTTCCCAATGCACCCGCGCCCCCCCACCGCCCGGCCACCTACATCTAACCTCACTGCTATTTGGGCTGCTGTTTTACTGGACACTGCAACTTTGTTTGAAGACAGTGCAGAAGTGGGAATACGCCACATGAACCACCCTGTTAAGCCTGTCCTCCTGCAACTCAGAGGAGAAAACTGCCACTTGACTGGCCCCTGTCAAGAGAGCCACACAATAGTCTTGGAACCAAAATGGGACAGCATCCAGGACCTGCCACCTACAGGAAGTTCAGAAGACAGCAAAGATGGCCATGTCAGGAGCGAAATCATTGCGGGTTAATTGTTGATTGCAGAAAACAGCAGTTTTGATCTGCTGGGGACACACTTTATTTGCCTTGAGGTCCAGGATCCTTAATTATCTTGCCCCACTCTTCCACGGCTTGCATCTCCAAAGTGCTAACTCTTGTCTTTAAGAAATACTGAAGTTGTCTCTTGGGCTCTGTCTGACTTATCTAATGAAGGCAGGGCTATAAAAAAGGAAACATGACCTTGGCAGAGAGAAAGGTGTTAACAGAGTGCTAGCAGGGCAGGACAACACTTATCATCATGCAGGCAGGGCTCCCAAATGGGCTGTCTAACCAGATCTGGCATGAGAAATGCCTCAGGAGCTGAGTGGACCAGCTACTCCCCGATTTCACTGACTAAGAGGAGATACCAGATTCCATCCTTGAACAAGAGGGATAGAAAGAGGCAGTATAGAGAAGTGCAGCGACTAACTACACAGCTTAATGTGTATGACTTTCATCTTAGTAGAATCTCAGAAGTGAATGACTCTAAGCTTAACCGTGATAAGCAGTAAACTTAGATATCTACAAAGCCAAAGAGAGGATACACACTTTATATGATTGTTGT 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Task1_train_23822 | Here is a variant affecting PMP22 (peripheral myelin protein 22) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Charcot-Marie-Tooth disease, type IA | TTGGCATCCCCATTTTATAGATGAGAAAACTGAATCTTAGTGTTTACGTAACCTTTTCAGGCCCCTATGGCTGGTAAGCAGCAAAGGACAGGCTCAAACCCAGGCTCTCATTTCTATGCTCTTAACCTTATTATAATATAGTCACTTGTTTACTTGTACCTCTCACTAAAATGTGACCTTTCGATGTTAAGATATATGTCATTACTTCTTTATCTTTGGTACCCAATTCAAAATAGTTGCACAATAAATATTAAGGACTATCAACCACATCATTTGCTTGTTATTTTGCAGACACACAACAAAAGGTCGACGGGTAAAAATATGGACGCATGAGACACAACTCAGAAACCCTGAGCTGGGTGACAATGGTGGCCTTTTCTCTCCTTCAGGATGGCATTAGGAGCTTAGTTGGTGCCAACCAATGTTTTATCTGCAAGTGTGGCCTCAAGTCACCATCATTCAGACCTTTCACCATATCATACCTCAGGGTGAGGGATCTGAGATGCTTCTGCCAACATTCCCAGTATATCAGGGCAGCTCATGACATGCCTCCATGTTTTCCATGTGGGTCATCAAACAACAGAGCACCAGAGAGGGTTGAACTAAATGAATACTCAAGTGCCTTCCAGTCCATTTACAGCCTCCATTTCAGCTGCAATTCCCAACTGTCTCCAATTAGCAAACCTTTGCACAGACATCATGAAGGCATCATGTGCTCCCTGTAGCTTGTAAAACAGCTATGATTTTGGTGCCTTAGCACCATCTTGTAACCCAAATCTCCAGCTCAACTTTGCTTTCCACTGAAGCTCTTCATCCTGCTCCAACAGGCACCTTGTACCCACACCCAAGTTCCCACAAAAACTCAAGAGAGACCAGTGAGTTACTCTGATGTTTATTTTAATGCATCTTAGTCCACACAGTTGGTATAAAATCAGAAAATGCAAAGCAAAAACAAAAGGTCTGGAGTCTTAGCATCAGAAGGGCACCATATATACATCTACAGTTGGTGGCCAATACAAGTCATTGCCAGACAGTCCTTGGAGGCACAGAACAGCCTAGACCCAGCCAAGCTCTAGGAACTCACGGTCCCAAGGAGTCTAGACGCTTGTTCTGATGCTCCGACCGTAAGAAAAATGTGGGAGTGATGAAGGCTTTATGATTTACTCATTATAGTAATAATAGCAGCCTAGCTAGGTACAAAAGCAGTTATAAACCATTTATATTACACAGAATTATTCAGGTCTCCATTCTATCTTATGTTGTAAAATTGTTAATTGGATTTCCAGTGAGTTGTTTAGATGATTAGTGATAATAAGGAATGGTAAATCCATAGCACCATTTCAAAGACTTGTTGTCACTGATTTCTCATTTAGATGTGTGACGAAGATACTCCACCTGTAAGGGCAAGTATGCCAATGCCACAAGCCGTGTTTTTGCAAGGGCTCCAGTTTGGGCATTTTGTCCGTGTGCGCGTAAAGCTTCACACAGAGGTTCGGGCAGCGGCTGTTTCTGTTGGATGCACTGGGTCACCCACCAGAAAAGGGCTTTTGGACATTTGGGGTTTCTACCCACACTTTGGTTTTCTAAATGAGGTGGACTGGGAGGGAGGTATCTTCTTTCAGATGAAAGGGAAGGGGCGAGATGGAGTTATCTTATTTCTGGGTAAAACAAAACAAACAAACAAAAAACAAAACAAAAATACTGAGCTGGATTATACTGTTAGGATGTAAAGTTCCTTAGCTACTTCTTTAAGGCTCAACACGAGGCTGATGGTCAACATAAAAAGCAAACAATACTATGTACATATATGTAAAAAGTGTTATAAATAGGTTTTATAAACCGGAGATATTATATACATCTTCAATCAACAGCAACCCCCACCTCCACTGCTTTCTGTTTGGTTTGGTTTGAGTTTGGGATTTTGGGCTAGCTCTTTTTTCTTTGTCTGCTTTCTGTTTTCCCTTCCTCCCTTCCCTATGTACGCTCAGAGCCTCAGACAGACCGTCTGGGCGCCTCATTCGCGTTTCCGCAAGATCACATAGATGACACCGCTGAGAAGGGCCAGGGGGAAGGCCACCCAGGCCAGGATGTAGGCGAAACCGTAGGAGTAATCCGAGTTGAGATGCCACTCCGGGTGCCTCACCGTGTAGATGGCCGCAGCACTCATCACGCACAGACCTGGGGAAGGAGAGGGACAAGCTGGGTGACGGAGAGTCCATGGCAGAGCGGCCCCCTCTCCGCCACCCCGGATGCTGACAATTGCTGGGTAGGAAGAACATTTCTACCTCTGGAAGGAAATCTGCTTCCAGGTCCAGAATTGAAAGGAGGTAGCACAAAAATATGGGAACAAGGAAAACAACTTGCTCTCTATTTCCAATCTTGGCCACCTAGGCCTTAATACCTGAGGGTTTTCTTTACATTTTCTGCCCTATTTCTCTTTCTTTCACTGTCACCAATTCCCAGGCCACACTACATGGCCAGCAGGCATTCAGGCTGCAAGAAAAACCTACCTGTCTCTTTCCAAGGGTGGTTGGGTATGGAAACCCCTGGAAATCTATATGCCACTCTACAAGTGAGTGGTGGCATTACCTAAAGCCAATGGAAGTGAAGTGACATTTTACCATTATTGGAGTCACGCCATGGTAAAAGGATTAAGCTCCATGCAGACCACAGGGGCCTATGGTCCCCCTAACAGAGTTGCCACATACCAGGTGAAGCAAGCAATGCCTATGGGCACTGCCAAACAGACAAAGAAATGTGTGGAGAGGGAAAAAGAAAGTGAGGAATAAGGATGCAGCCGACAGTATGACTGGGAAGCCACGCTGCAGAGGGGGAAGATGATCAAAGGCAAGCTCCATTTCCCTGGGTGCCCCAAGGTTGCATTTGAAGCCCAAAGAAGGCTAAAGGGCACTGGATATGCAGGTGGGTCAGGCCACCCTCCCTGGCCCACCAATGCAGCCCTTCGGTGTTGGAAAGAGAAGAAAAGCCTCCATCTTGGGCCCTGTGGAGCAGCCACGCTCAAACTGATGGCCCCAGCTCACGTGACAGACAGCGTCCCCCCACAAGGAGGGGTCCAGTGATGTCAGCACCCCAGCCTGGAGCTGCACAAAGCCTGGTCTGTTTCCTCCCTGAAAACAGGGTCTTTGAGAAGCTCTGAGTGACTCTATTATAAATCCAGTATGCCGTGTGGGATTCATGCAGTTCCAGAGTTCCCAATGCACCCGCGCCCCCCCACCGCCCGGCCACCTACATCTAACCTCACTGCTATTTGGGCTGCTGTTTTACTGGACACTGCAACTTTGTTTGAAGACAGTGCAGAAGTGGGAATACGCCACATGAACCACCCTGTTAAGCCTGTCCTCCTGCAACTCAGAGGAGAAAACTGCCACTTGACTGGCCCCTGTCAAGAGAGCCACACAATAGTCTTGGAACCAAAATGGGACAGCATCCAGGACCTGCCACCTACAGGAAGTTCAGAAGACAGCAAAGATGGCCATGTCAGGAGCGAAATCATTGCGGGTTAATTGTTGATTGCAGAAAACAGCAGTTTTGATCTGCTGGGGACACACTTTATTTGCCTTGAGGTCCAGGATCCTTAATTATCTTGCCCCACTCTTCCACGGCTTGCATCTCCAAAGTGCTAACTCTTGTCTTTAAGAAATACTGAAGTTGTCTCTTGGGCTCTGTCTGACTTATCTAATGAAGGCAGGGCTATAAAAAAGGAAACATGACCTTGGCAGAGAGAAAGGTGTTAACAGAGTGCTAGCAGGGCAGGACAACACTTATCATCATGCAGGCAGGGCTCCCAAATGGGCTGTCTAACCAGATCTGGCATGAGAAATGCCTCAGGAGCTGAGTGGACCAGCTACTCCCCGATTTCACTGACTAAGAGGAGATACCAGATTCCATCCTTGAACAAGAGGGATAGAAAGAGGCAGTATAGAGAAGTGCAGCGACTAACTACACAGCTTAATGTGTATGACTTTCATCTTAGTAGAATCTCAGAAGTGAATGACTCTAAGCTTAACCGTGATAAGCAGTAAACTTAGATATCTACAAAGCCAAAGAGAGGATACACACTTTATATGATTGTTGT 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TTGGCATCCCCATTTTATAGATGAGAAAACTGAATCTTAGTGTTTACGTAACCTTTTCAGGCCCCTATGGCTGGTAAGCAGCAAAGGACAGGCTCAAACCCAGGCTCTCATTTCTATGCTCTTAACCTTATTATAATATAGTCACTTGTTTACTTGTACCTCTCACTAAAATGTGACCTTTCGATGTTAAGATATATGTCATTACTTCTTTATCTTTGGTACCCAATTCAAAATAGTTGCACAATAAATATTAAGGACTATCAACCACATCATTTGCTTGTTATTTTGCAGACACACAACAAAAGGTCGACGGGTAAAAATATGGACGCATGAGACACAACTCAGAAACCCTGAGCTGGGTGACAATGGTGGCCTTTTCTCTCCTTCAGGATGGCATTAGGAGCTTAGTTGGTGCCAACCAATGTTTTATCTGCAAGTGTGGCCTCAAGTCACCATCATTCAGACCTTTCACCATATCATACCTCAGGGTGAGGGATCTGAGATGCTTCTGCCAACATTCCCAGTATATCAGGGCAGCTCATGACATGCCTCCATGTTTTCCATGTGGGTCATCAAACAACAGAGCACCAGAGAGGGTTGAACTAAATGAATACTCAAGTGCCTTCCAGTCCATTTACAGCCTCCATTTCAGCTGCAATTCCCAACTGTCTCCAATTAGCAAACCTTTGCACAGACATCATGAAGGCATCATGTGCTCCCTGTAGCTTGTAAAACAGCTATGATTTTGGTGCCTTAGCACCATCTTGTAACCCAAATCTCCAGCTCAACTTTGCTTTCCACTGAAGCTCTTCATCCTGCTCCAACAGGCACCTTGTACCCACACCCAAGTTCCCACAAAAACTCAAGAGAGACCAGTGAGTTACTCTGATGTTTATTTTAATGCATCTTAGTCCACACAGTTGGTATAAAATCAGAAAATGCAAAGCAAAAACAAAAGGTCTGGAGTCTTAGCATCAGAAGGGCACCATATATACATCTACAGTTGGTGGCCAATACAAGTCATTGCCAGACAGTCCTTGGAGGCACAGAACAGCCTAGACCCAGCCAAGCTCTAGGAACTCACGGTCCCAAGGAGTCTAGACGCTTGTTCTGATGCTCCGACCGTAAGAAAAATGTGGGAGTGATGAAGGCTTTATGATTTACTCATTATAGTAATAATAGCAGCCTAGCTAGGTACAAAAGCAGTTATAAACCATTTATATTACACAGAATTATTCAGGTCTCCATTCTATCTTATGTTGTAAAATTGTTAATTGGATTTCCAGTGAGTTGTTTAGATGATTAGTGATAATAAGGAATGGTAAATCCATAGCACCATTTCAAAGACTTGTTGTCACTGATTTCTCATTTAGATGTGTGACGAAGATACTCCACCTGTAAGGGCAAGTATGCCAATGCCACAAGCCGTGTTTTTGCAAGGGCTCCAGTTTGGGCATTTTGTCCGTGTGCGCGTAAAGCTTCACACAGAGGTTCGGGCAGCGGCTGTTTCTGTTGGATGCACTGGGTCACCCACCAGAAAAGGGCTTTTGGACATTTGGGGTTTCTACCCACACTTTGGTTTTCTAAATGAGGTGGACTGGGAGGGAGGTATCTTCTTTCAGATGAAAGGGAAGGGGCGAGATGGAGTTATCTTATTTCTGGGTAAAACAAAACAAACAAACAAAAAACAAAACAAAAATACTGAGCTGGATTATACTGTTAGGATGTAAAGTTCCTTAGCTACTTCTTTAAGGCTCAACACGAGGCTGATGGTCAACATAAAAAGCAAACAATACTATGTACATATATGTAAAAAGTGTTATAAATAGGTTTTATAAACCGGAGATATTATATACATCTTCAATCAACAGCAACCCCCACCTCCACTGCTTTCTGTTTGGTTTGGTTTGAGTTTGGGATTTTGGGCTAGCTCTTTTTTCTTTGTCTGCTTTCTGTTTTCCCTTCCTCCCTTCCCTATGTACGCTCAGAGCCTCAGACAGACCGTCTGGGCGCCTCATTCGCGTTTCCGCAAGATCACATAGATGACAACGCTGAGAAGGGCCAGGGGGAAGGCCACCCAGGCCAGGATGTAGGCGAAACCGTAGGAGTAATCCGAGTTGAGATGCCACTCCGGGTGCCTCACCGTGTAGATGGCCGCAGCACTCATCACGCACAGACCTGGGGAAGGAGAGGGACAAGCTGGGTGACGGAGAGTCCATGGCAGAGCGGCCCCCTCTCCGCCACCCCGGATGCTGACAATTGCTGGGTAGGAAGAACATTTCTACCTCTGGAAGGAAATCTGCTTCCAGGTCCAGAATTGAAAGGAGGTAGCACAAAAATATGGGAACAAGGAAAACAACTTGCTCTCTATTTCCAATCTTGGCCACCTAGGCCTTAATACCTGAGGGTTTTCTTTACATTTTCTGCCCTATTTCTCTTTCTTTCACTGTCACCAATTCCCAGGCCACACTACATGGCCAGCAGGCATTCAGGCTGCAAGAAAAACCTACCTGTCTCTTTCCAAGGGTGGTTGGGTATGGAAACCCCTGGAAATCTATATGCCACTCTACAAGTGAGTGGTGGCATTACCTAAAGCCAATGGAAGTGAAGTGACATTTTACCATTATTGGAGTCACGCCATGGTAAAAGGATTAAGCTCCATGCAGACCACAGGGGCCTATGGTCCCCCTAACAGAGTTGCCACATACCAGGTGAAGCAAGCAATGCCTATGGGCACTGCCAAACAGACAAAGAAATGTGTGGAGAGGGAAAAAGAAAGTGAGGAATAAGGATGCAGCCGACAGTATGACTGGGAAGCCACGCTGCAGAGGGGGAAGATGATCAAAGGCAAGCTCCATTTCCCTGGGTGCCCCAAGGTTGCATTTGAAGCCCAAAGAAGGCTAAAGGGCACTGGATATGCAGGTGGGTCAGGCCACCCTCCCTGGCCCACCAATGCAGCCCTTCGGTGTTGGAAAGAGAAGAAAAGCCTCCATCTTGGGCCCTGTGGAGCAGCCACGCTCAAACTGATGGCCCCAGCTCACGTGACAGACAGCGTCCCCCCACAAGGAGGGGTCCAGTGATGTCAGCACCCCAGCCTGGAGCTGCACAAAGCCTGGTCTGTTTCCTCCCTGAAAACAGGGTCTTTGAGAAGCTCTGAGTGACTCTATTATAAATCCAGTATGCCGTGTGGGATTCATGCAGTTCCAGAGTTCCCAATGCACCCGCGCCCCCCCACCGCCCGGCCACCTACATCTAACCTCACTGCTATTTGGGCTGCTGTTTTACTGGACACTGCAACTTTGTTTGAAGACAGTGCAGAAGTGGGAATACGCCACATGAACCACCCTGTTAAGCCTGTCCTCCTGCAACTCAGAGGAGAAAACTGCCACTTGACTGGCCCCTGTCAAGAGAGCCACACAATAGTCTTGGAACCAAAATGGGACAGCATCCAGGACCTGCCACCTACAGGAAGTTCAGAAGACAGCAAAGATGGCCATGTCAGGAGCGAAATCATTGCGGGTTAATTGTTGATTGCAGAAAACAGCAGTTTTGATCTGCTGGGGACACACTTTATTTGCCTTGAGGTCCAGGATCCTTAATTATCTTGCCCCACTCTTCCACGGCTTGCATCTCCAAAGTGCTAACTCTTGTCTTTAAGAAATACTGAAGTTGTCTCTTGGGCTCTGTCTGACTTATCTAATGAAGGCAGGGCTATAAAAAAGGAAACATGACCTTGGCAGAGAGAAAGGTGTTAACAGAGTGCTAGCAGGGCAGGACAACACTTATCATCATGCAGGCAGGGCTCCCAAATGGGCTGTCTAACCAGATCTGGCATGAGAAATGCCTCAGGAGCTGAGTGGACCAGCTACTCCCCGATTTCACTGACTAAGAGGAGATACCAGATTCCATCCTTGAACAAGAGGGATAGAAAGAGGCAGTATAGAGAAGTGCAGCGACTAACTACACAGCTTAATGTGTATGACTTTCATCTTAGTAGAATCTCAGAAGTGAATGACTCTAAGCTTAACCGTGATAAGCAGTAAACTTAGATATCTACAAAGCCAAAGAGAGGATACACACTTTATATGATTGTTGT 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Task1_train_23823 | This alteration in PMP22 (peripheral myelin protein 22) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Charcot-Marie-Tooth disease, type I | TTGGCATCCCCATTTTATAGATGAGAAAACTGAATCTTAGTGTTTACGTAACCTTTTCAGGCCCCTATGGCTGGTAAGCAGCAAAGGACAGGCTCAAACCCAGGCTCTCATTTCTATGCTCTTAACCTTATTATAATATAGTCACTTGTTTACTTGTACCTCTCACTAAAATGTGACCTTTCGATGTTAAGATATATGTCATTACTTCTTTATCTTTGGTACCCAATTCAAAATAGTTGCACAATAAATATTAAGGACTATCAACCACATCATTTGCTTGTTATTTTGCAGACACACAACAAAAGGTCGACGGGTAAAAATATGGACGCATGAGACACAACTCAGAAACCCTGAGCTGGGTGACAATGGTGGCCTTTTCTCTCCTTCAGGATGGCATTAGGAGCTTAGTTGGTGCCAACCAATGTTTTATCTGCAAGTGTGGCCTCAAGTCACCATCATTCAGACCTTTCACCATATCATACCTCAGGGTGAGGGATCTGAGATGCTTCTGCCAACATTCCCAGTATATCAGGGCAGCTCATGACATGCCTCCATGTTTTCCATGTGGGTCATCAAACAACAGAGCACCAGAGAGGGTTGAACTAAATGAATACTCAAGTGCCTTCCAGTCCATTTACAGCCTCCATTTCAGCTGCAATTCCCAACTGTCTCCAATTAGCAAACCTTTGCACAGACATCATGAAGGCATCATGTGCTCCCTGTAGCTTGTAAAACAGCTATGATTTTGGTGCCTTAGCACCATCTTGTAACCCAAATCTCCAGCTCAACTTTGCTTTCCACTGAAGCTCTTCATCCTGCTCCAACAGGCACCTTGTACCCACACCCAAGTTCCCACAAAAACTCAAGAGAGACCAGTGAGTTACTCTGATGTTTATTTTAATGCATCTTAGTCCACACAGTTGGTATAAAATCAGAAAATGCAAAGCAAAAACAAAAGGTCTGGAGTCTTAGCATCAGAAGGGCACCATATATACATCTACAGTTGGTGGCCAATACAAGTCATTGCCAGACAGTCCTTGGAGGCACAGAACAGCCTAGACCCAGCCAAGCTCTAGGAACTCACGGTCCCAAGGAGTCTAGACGCTTGTTCTGATGCTCCGACCGTAAGAAAAATGTGGGAGTGATGAAGGCTTTATGATTTACTCATTATAGTAATAATAGCAGCCTAGCTAGGTACAAAAGCAGTTATAAACCATTTATATTACACAGAATTATTCAGGTCTCCATTCTATCTTATGTTGTAAAATTGTTAATTGGATTTCCAGTGAGTTGTTTAGATGATTAGTGATAATAAGGAATGGTAAATCCATAGCACCATTTCAAAGACTTGTTGTCACTGATTTCTCATTTAGATGTGTGACGAAGATACTCCACCTGTAAGGGCAAGTATGCCAATGCCACAAGCCGTGTTTTTGCAAGGGCTCCAGTTTGGGCATTTTGTCCGTGTGCGCGTAAAGCTTCACACAGAGGTTCGGGCAGCGGCTGTTTCTGTTGGATGCACTGGGTCACCCACCAGAAAAGGGCTTTTGGACATTTGGGGTTTCTACCCACACTTTGGTTTTCTAAATGAGGTGGACTGGGAGGGAGGTATCTTCTTTCAGATGAAAGGGAAGGGGCGAGATGGAGTTATCTTATTTCTGGGTAAAACAAAACAAACAAACAAAAAACAAAACAAAAATACTGAGCTGGATTATACTGTTAGGATGTAAAGTTCCTTAGCTACTTCTTTAAGGCTCAACACGAGGCTGATGGTCAACATAAAAAGCAAACAATACTATGTACATATATGTAAAAAGTGTTATAAATAGGTTTTATAAACCGGAGATATTATATACATCTTCAATCAACAGCAACCCCCACCTCCACTGCTTTCTGTTTGGTTTGGTTTGAGTTTGGGATTTTGGGCTAGCTCTTTTTTCTTTGTCTGCTTTCTGTTTTCCCTTCCTCCCTTCCCTATGTACGCTCAGAGCCTCAGACAGACCGTCTGGGCGCCTCATTCGCGTTTCCGCAAGATCACATAGATGACACCGCTGAGAAGGGCCAGGGGGAAGGCCACCCAGGCCAGGATGTAGGCGAAACCGTAGGAGTAATCCGAGTTGAGATGCCACTCCGGGTGCCTCACCGTGTAGATGGCCGCAGCACTCATCACGCACAGACCTGGGGAAGGAGAGGGACAAGCTGGGTGACGGAGAGTCCATGGCAGAGCGGCCCCCTCTCCGCCACCCCGGATGCTGACAATTGCTGGGTAGGAAGAACATTTCTACCTCTGGAAGGAAATCTGCTTCCAGGTCCAGAATTGAAAGGAGGTAGCACAAAAATATGGGAACAAGGAAAACAACTTGCTCTCTATTTCCAATCTTGGCCACCTAGGCCTTAATACCTGAGGGTTTTCTTTACATTTTCTGCCCTATTTCTCTTTCTTTCACTGTCACCAATTCCCAGGCCACACTACATGGCCAGCAGGCATTCAGGCTGCAAGAAAAACCTACCTGTCTCTTTCCAAGGGTGGTTGGGTATGGAAACCCCTGGAAATCTATATGCCACTCTACAAGTGAGTGGTGGCATTACCTAAAGCCAATGGAAGTGAAGTGACATTTTACCATTATTGGAGTCACGCCATGGTAAAAGGATTAAGCTCCATGCAGACCACAGGGGCCTATGGTCCCCCTAACAGAGTTGCCACATACCAGGTGAAGCAAGCAATGCCTATGGGCACTGCCAAACAGACAAAGAAATGTGTGGAGAGGGAAAAAGAAAGTGAGGAATAAGGATGCAGCCGACAGTATGACTGGGAAGCCACGCTGCAGAGGGGGAAGATGATCAAAGGCAAGCTCCATTTCCCTGGGTGCCCCAAGGTTGCATTTGAAGCCCAAAGAAGGCTAAAGGGCACTGGATATGCAGGTGGGTCAGGCCACCCTCCCTGGCCCACCAATGCAGCCCTTCGGTGTTGGAAAGAGAAGAAAAGCCTCCATCTTGGGCCCTGTGGAGCAGCCACGCTCAAACTGATGGCCCCAGCTCACGTGACAGACAGCGTCCCCCCACAAGGAGGGGTCCAGTGATGTCAGCACCCCAGCCTGGAGCTGCACAAAGCCTGGTCTGTTTCCTCCCTGAAAACAGGGTCTTTGAGAAGCTCTGAGTGACTCTATTATAAATCCAGTATGCCGTGTGGGATTCATGCAGTTCCAGAGTTCCCAATGCACCCGCGCCCCCCCACCGCCCGGCCACCTACATCTAACCTCACTGCTATTTGGGCTGCTGTTTTACTGGACACTGCAACTTTGTTTGAAGACAGTGCAGAAGTGGGAATACGCCACATGAACCACCCTGTTAAGCCTGTCCTCCTGCAACTCAGAGGAGAAAACTGCCACTTGACTGGCCCCTGTCAAGAGAGCCACACAATAGTCTTGGAACCAAAATGGGACAGCATCCAGGACCTGCCACCTACAGGAAGTTCAGAAGACAGCAAAGATGGCCATGTCAGGAGCGAAATCATTGCGGGTTAATTGTTGATTGCAGAAAACAGCAGTTTTGATCTGCTGGGGACACACTTTATTTGCCTTGAGGTCCAGGATCCTTAATTATCTTGCCCCACTCTTCCACGGCTTGCATCTCCAAAGTGCTAACTCTTGTCTTTAAGAAATACTGAAGTTGTCTCTTGGGCTCTGTCTGACTTATCTAATGAAGGCAGGGCTATAAAAAAGGAAACATGACCTTGGCAGAGAGAAAGGTGTTAACAGAGTGCTAGCAGGGCAGGACAACACTTATCATCATGCAGGCAGGGCTCCCAAATGGGCTGTCTAACCAGATCTGGCATGAGAAATGCCTCAGGAGCTGAGTGGACCAGCTACTCCCCGATTTCACTGACTAAGAGGAGATACCAGATTCCATCCTTGAACAAGAGGGATAGAAAGAGGCAGTATAGAGAAGTGCAGCGACTAACTACACAGCTTAATGTGTATGACTTTCATCTTAGTAGAATCTCAGAAGTGAATGACTCTAAGCTTAACCGTGATAAGCAGTAAACTTAGATATCTACAAAGCCAAAGAGAGGATACACACTTTATATGATTGTTGT 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TTGGCATCCCCATTTTATAGATGAGAAAACTGAATCTTAGTGTTTACGTAACCTTTTCAGGCCCCTATGGCTGGTAAGCAGCAAAGGACAGGCTCAAACCCAGGCTCTCATTTCTATGCTCTTAACCTTATTATAATATAGTCACTTGTTTACTTGTACCTCTCACTAAAATGTGACCTTTCGATGTTAAGATATATGTCATTACTTCTTTATCTTTGGTACCCAATTCAAAATAGTTGCACAATAAATATTAAGGACTATCAACCACATCATTTGCTTGTTATTTTGCAGACACACAACAAAAGGTCGACGGGTAAAAATATGGACGCATGAGACACAACTCAGAAACCCTGAGCTGGGTGACAATGGTGGCCTTTTCTCTCCTTCAGGATGGCATTAGGAGCTTAGTTGGTGCCAACCAATGTTTTATCTGCAAGTGTGGCCTCAAGTCACCATCATTCAGACCTTTCACCATATCATACCTCAGGGTGAGGGATCTGAGATGCTTCTGCCAACATTCCCAGTATATCAGGGCAGCTCATGACATGCCTCCATGTTTTCCATGTGGGTCATCAAACAACAGAGCACCAGAGAGGGTTGAACTAAATGAATACTCAAGTGCCTTCCAGTCCATTTACAGCCTCCATTTCAGCTGCAATTCCCAACTGTCTCCAATTAGCAAACCTTTGCACAGACATCATGAAGGCATCATGTGCTCCCTGTAGCTTGTAAAACAGCTATGATTTTGGTGCCTTAGCACCATCTTGTAACCCAAATCTCCAGCTCAACTTTGCTTTCCACTGAAGCTCTTCATCCTGCTCCAACAGGCACCTTGTACCCACACCCAAGTTCCCACAAAAACTCAAGAGAGACCAGTGAGTTACTCTGATGTTTATTTTAATGCATCTTAGTCCACACAGTTGGTATAAAATCAGAAAATGCAAAGCAAAAACAAAAGGTCTGGAGTCTTAGCATCAGAAGGGCACCATATATACATCTACAGTTGGTGGCCAATACAAGTCATTGCCAGACAGTCCTTGGAGGCACAGAACAGCCTAGACCCAGCCAAGCTCTAGGAACTCACGGTCCCAAGGAGTCTAGACGCTTGTTCTGATGCTCCGACCGTAAGAAAAATGTGGGAGTGATGAAGGCTTTATGATTTACTCATTATAGTAATAATAGCAGCCTAGCTAGGTACAAAAGCAGTTATAAACCATTTATATTACACAGAATTATTCAGGTCTCCATTCTATCTTATGTTGTAAAATTGTTAATTGGATTTCCAGTGAGTTGTTTAGATGATTAGTGATAATAAGGAATGGTAAATCCATAGCACCATTTCAAAGACTTGTTGTCACTGATTTCTCATTTAGATGTGTGACGAAGATACTCCACCTGTAAGGGCAAGTATGCCAATGCCACAAGCCGTGTTTTTGCAAGGGCTCCAGTTTGGGCATTTTGTCCGTGTGCGCGTAAAGCTTCACACAGAGGTTCGGGCAGCGGCTGTTTCTGTTGGATGCACTGGGTCACCCACCAGAAAAGGGCTTTTGGACATTTGGGGTTTCTACCCACACTTTGGTTTTCTAAATGAGGTGGACTGGGAGGGAGGTATCTTCTTTCAGATGAAAGGGAAGGGGCGAGATGGAGTTATCTTATTTCTGGGTAAAACAAAACAAACAAACAAAAAACAAAACAAAAATACTGAGCTGGATTATACTGTTAGGATGTAAAGTTCCTTAGCTACTTCTTTAAGGCTCAACACGAGGCTGATGGTCAACATAAAAAGCAAACAATACTATGTACATATATGTAAAAAGTGTTATAAATAGGTTTTATAAACCGGAGATATTATATACATCTTCAATCAACAGCAACCCCCACCTCCACTGCTTTCTGTTTGGTTTGGTTTGAGTTTGGGATTTTGGGCTAGCTCTTTTTTCTTTGTCTGCTTTCTGTTTTCCCTTCCTCCCTTCCCTATGTACGCTCAGAGCCTCAGACAGACCGTCTGGGCGCCTCATTCGCGTTTCCGCAAGATCACATAGATGACATCGCTGAGAAGGGCCAGGGGGAAGGCCACCCAGGCCAGGATGTAGGCGAAACCGTAGGAGTAATCCGAGTTGAGATGCCACTCCGGGTGCCTCACCGTGTAGATGGCCGCAGCACTCATCACGCACAGACCTGGGGAAGGAGAGGGACAAGCTGGGTGACGGAGAGTCCATGGCAGAGCGGCCCCCTCTCCGCCACCCCGGATGCTGACAATTGCTGGGTAGGAAGAACATTTCTACCTCTGGAAGGAAATCTGCTTCCAGGTCCAGAATTGAAAGGAGGTAGCACAAAAATATGGGAACAAGGAAAACAACTTGCTCTCTATTTCCAATCTTGGCCACCTAGGCCTTAATACCTGAGGGTTTTCTTTACATTTTCTGCCCTATTTCTCTTTCTTTCACTGTCACCAATTCCCAGGCCACACTACATGGCCAGCAGGCATTCAGGCTGCAAGAAAAACCTACCTGTCTCTTTCCAAGGGTGGTTGGGTATGGAAACCCCTGGAAATCTATATGCCACTCTACAAGTGAGTGGTGGCATTACCTAAAGCCAATGGAAGTGAAGTGACATTTTACCATTATTGGAGTCACGCCATGGTAAAAGGATTAAGCTCCATGCAGACCACAGGGGCCTATGGTCCCCCTAACAGAGTTGCCACATACCAGGTGAAGCAAGCAATGCCTATGGGCACTGCCAAACAGACAAAGAAATGTGTGGAGAGGGAAAAAGAAAGTGAGGAATAAGGATGCAGCCGACAGTATGACTGGGAAGCCACGCTGCAGAGGGGGAAGATGATCAAAGGCAAGCTCCATTTCCCTGGGTGCCCCAAGGTTGCATTTGAAGCCCAAAGAAGGCTAAAGGGCACTGGATATGCAGGTGGGTCAGGCCACCCTCCCTGGCCCACCAATGCAGCCCTTCGGTGTTGGAAAGAGAAGAAAAGCCTCCATCTTGGGCCCTGTGGAGCAGCCACGCTCAAACTGATGGCCCCAGCTCACGTGACAGACAGCGTCCCCCCACAAGGAGGGGTCCAGTGATGTCAGCACCCCAGCCTGGAGCTGCACAAAGCCTGGTCTGTTTCCTCCCTGAAAACAGGGTCTTTGAGAAGCTCTGAGTGACTCTATTATAAATCCAGTATGCCGTGTGGGATTCATGCAGTTCCAGAGTTCCCAATGCACCCGCGCCCCCCCACCGCCCGGCCACCTACATCTAACCTCACTGCTATTTGGGCTGCTGTTTTACTGGACACTGCAACTTTGTTTGAAGACAGTGCAGAAGTGGGAATACGCCACATGAACCACCCTGTTAAGCCTGTCCTCCTGCAACTCAGAGGAGAAAACTGCCACTTGACTGGCCCCTGTCAAGAGAGCCACACAATAGTCTTGGAACCAAAATGGGACAGCATCCAGGACCTGCCACCTACAGGAAGTTCAGAAGACAGCAAAGATGGCCATGTCAGGAGCGAAATCATTGCGGGTTAATTGTTGATTGCAGAAAACAGCAGTTTTGATCTGCTGGGGACACACTTTATTTGCCTTGAGGTCCAGGATCCTTAATTATCTTGCCCCACTCTTCCACGGCTTGCATCTCCAAAGTGCTAACTCTTGTCTTTAAGAAATACTGAAGTTGTCTCTTGGGCTCTGTCTGACTTATCTAATGAAGGCAGGGCTATAAAAAAGGAAACATGACCTTGGCAGAGAGAAAGGTGTTAACAGAGTGCTAGCAGGGCAGGACAACACTTATCATCATGCAGGCAGGGCTCCCAAATGGGCTGTCTAACCAGATCTGGCATGAGAAATGCCTCAGGAGCTGAGTGGACCAGCTACTCCCCGATTTCACTGACTAAGAGGAGATACCAGATTCCATCCTTGAACAAGAGGGATAGAAAGAGGCAGTATAGAGAAGTGCAGCGACTAACTACACAGCTTAATGTGTATGACTTTCATCTTAGTAGAATCTCAGAAGTGAATGACTCTAAGCTTAACCGTGATAAGCAGTAAACTTAGATATCTACAAAGCCAAAGAGAGGATACACACTTTATATGATTGTTGT 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Task1_train_23824 | Mutation context: Chromosome 17, Gene PMP22 (peripheral myelin protein 22). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Charcot-Marie-Tooth disease, type I | GGCATCCCCATTTTATAGATGAGAAAACTGAATCTTAGTGTTTACGTAACCTTTTCAGGCCCCTATGGCTGGTAAGCAGCAAAGGACAGGCTCAAACCCAGGCTCTCATTTCTATGCTCTTAACCTTATTATAATATAGTCACTTGTTTACTTGTACCTCTCACTAAAATGTGACCTTTCGATGTTAAGATATATGTCATTACTTCTTTATCTTTGGTACCCAATTCAAAATAGTTGCACAATAAATATTAAGGACTATCAACCACATCATTTGCTTGTTATTTTGCAGACACACAACAAAAGGTCGACGGGTAAAAATATGGACGCATGAGACACAACTCAGAAACCCTGAGCTGGGTGACAATGGTGGCCTTTTCTCTCCTTCAGGATGGCATTAGGAGCTTAGTTGGTGCCAACCAATGTTTTATCTGCAAGTGTGGCCTCAAGTCACCATCATTCAGACCTTTCACCATATCATACCTCAGGGTGAGGGATCTGAGATGCTTCTGCCAACATTCCCAGTATATCAGGGCAGCTCATGACATGCCTCCATGTTTTCCATGTGGGTCATCAAACAACAGAGCACCAGAGAGGGTTGAACTAAATGAATACTCAAGTGCCTTCCAGTCCATTTACAGCCTCCATTTCAGCTGCAATTCCCAACTGTCTCCAATTAGCAAACCTTTGCACAGACATCATGAAGGCATCATGTGCTCCCTGTAGCTTGTAAAACAGCTATGATTTTGGTGCCTTAGCACCATCTTGTAACCCAAATCTCCAGCTCAACTTTGCTTTCCACTGAAGCTCTTCATCCTGCTCCAACAGGCACCTTGTACCCACACCCAAGTTCCCACAAAAACTCAAGAGAGACCAGTGAGTTACTCTGATGTTTATTTTAATGCATCTTAGTCCACACAGTTGGTATAAAATCAGAAAATGCAAAGCAAAAACAAAAGGTCTGGAGTCTTAGCATCAGAAGGGCACCATATATACATCTACAGTTGGTGGCCAATACAAGTCATTGCCAGACAGTCCTTGGAGGCACAGAACAGCCTAGACCCAGCCAAGCTCTAGGAACTCACGGTCCCAAGGAGTCTAGACGCTTGTTCTGATGCTCCGACCGTAAGAAAAATGTGGGAGTGATGAAGGCTTTATGATTTACTCATTATAGTAATAATAGCAGCCTAGCTAGGTACAAAAGCAGTTATAAACCATTTATATTACACAGAATTATTCAGGTCTCCATTCTATCTTATGTTGTAAAATTGTTAATTGGATTTCCAGTGAGTTGTTTAGATGATTAGTGATAATAAGGAATGGTAAATCCATAGCACCATTTCAAAGACTTGTTGTCACTGATTTCTCATTTAGATGTGTGACGAAGATACTCCACCTGTAAGGGCAAGTATGCCAATGCCACAAGCCGTGTTTTTGCAAGGGCTCCAGTTTGGGCATTTTGTCCGTGTGCGCGTAAAGCTTCACACAGAGGTTCGGGCAGCGGCTGTTTCTGTTGGATGCACTGGGTCACCCACCAGAAAAGGGCTTTTGGACATTTGGGGTTTCTACCCACACTTTGGTTTTCTAAATGAGGTGGACTGGGAGGGAGGTATCTTCTTTCAGATGAAAGGGAAGGGGCGAGATGGAGTTATCTTATTTCTGGGTAAAACAAAACAAACAAACAAAAAACAAAACAAAAATACTGAGCTGGATTATACTGTTAGGATGTAAAGTTCCTTAGCTACTTCTTTAAGGCTCAACACGAGGCTGATGGTCAACATAAAAAGCAAACAATACTATGTACATATATGTAAAAAGTGTTATAAATAGGTTTTATAAACCGGAGATATTATATACATCTTCAATCAACAGCAACCCCCACCTCCACTGCTTTCTGTTTGGTTTGGTTTGAGTTTGGGATTTTGGGCTAGCTCTTTTTTCTTTGTCTGCTTTCTGTTTTCCCTTCCTCCCTTCCCTATGTACGCTCAGAGCCTCAGACAGACCGTCTGGGCGCCTCATTCGCGTTTCCGCAAGATCACATAGATGACACCGCTGAGAAGGGCCAGGGGGAAGGCCACCCAGGCCAGGATGTAGGCGAAACCGTAGGAGTAATCCGAGTTGAGATGCCACTCCGGGTGCCTCACCGTGTAGATGGCCGCAGCACTCATCACGCACAGACCTGGGGAAGGAGAGGGACAAGCTGGGTGACGGAGAGTCCATGGCAGAGCGGCCCCCTCTCCGCCACCCCGGATGCTGACAATTGCTGGGTAGGAAGAACATTTCTACCTCTGGAAGGAAATCTGCTTCCAGGTCCAGAATTGAAAGGAGGTAGCACAAAAATATGGGAACAAGGAAAACAACTTGCTCTCTATTTCCAATCTTGGCCACCTAGGCCTTAATACCTGAGGGTTTTCTTTACATTTTCTGCCCTATTTCTCTTTCTTTCACTGTCACCAATTCCCAGGCCACACTACATGGCCAGCAGGCATTCAGGCTGCAAGAAAAACCTACCTGTCTCTTTCCAAGGGTGGTTGGGTATGGAAACCCCTGGAAATCTATATGCCACTCTACAAGTGAGTGGTGGCATTACCTAAAGCCAATGGAAGTGAAGTGACATTTTACCATTATTGGAGTCACGCCATGGTAAAAGGATTAAGCTCCATGCAGACCACAGGGGCCTATGGTCCCCCTAACAGAGTTGCCACATACCAGGTGAAGCAAGCAATGCCTATGGGCACTGCCAAACAGACAAAGAAATGTGTGGAGAGGGAAAAAGAAAGTGAGGAATAAGGATGCAGCCGACAGTATGACTGGGAAGCCACGCTGCAGAGGGGGAAGATGATCAAAGGCAAGCTCCATTTCCCTGGGTGCCCCAAGGTTGCATTTGAAGCCCAAAGAAGGCTAAAGGGCACTGGATATGCAGGTGGGTCAGGCCACCCTCCCTGGCCCACCAATGCAGCCCTTCGGTGTTGGAAAGAGAAGAAAAGCCTCCATCTTGGGCCCTGTGGAGCAGCCACGCTCAAACTGATGGCCCCAGCTCACGTGACAGACAGCGTCCCCCCACAAGGAGGGGTCCAGTGATGTCAGCACCCCAGCCTGGAGCTGCACAAAGCCTGGTCTGTTTCCTCCCTGAAAACAGGGTCTTTGAGAAGCTCTGAGTGACTCTATTATAAATCCAGTATGCCGTGTGGGATTCATGCAGTTCCAGAGTTCCCAATGCACCCGCGCCCCCCCACCGCCCGGCCACCTACATCTAACCTCACTGCTATTTGGGCTGCTGTTTTACTGGACACTGCAACTTTGTTTGAAGACAGTGCAGAAGTGGGAATACGCCACATGAACCACCCTGTTAAGCCTGTCCTCCTGCAACTCAGAGGAGAAAACTGCCACTTGACTGGCCCCTGTCAAGAGAGCCACACAATAGTCTTGGAACCAAAATGGGACAGCATCCAGGACCTGCCACCTACAGGAAGTTCAGAAGACAGCAAAGATGGCCATGTCAGGAGCGAAATCATTGCGGGTTAATTGTTGATTGCAGAAAACAGCAGTTTTGATCTGCTGGGGACACACTTTATTTGCCTTGAGGTCCAGGATCCTTAATTATCTTGCCCCACTCTTCCACGGCTTGCATCTCCAAAGTGCTAACTCTTGTCTTTAAGAAATACTGAAGTTGTCTCTTGGGCTCTGTCTGACTTATCTAATGAAGGCAGGGCTATAAAAAAGGAAACATGACCTTGGCAGAGAGAAAGGTGTTAACAGAGTGCTAGCAGGGCAGGACAACACTTATCATCATGCAGGCAGGGCTCCCAAATGGGCTGTCTAACCAGATCTGGCATGAGAAATGCCTCAGGAGCTGAGTGGACCAGCTACTCCCCGATTTCACTGACTAAGAGGAGATACCAGATTCCATCCTTGAACAAGAGGGATAGAAAGAGGCAGTATAGAGAAGTGCAGCGACTAACTACACAGCTTAATGTGTATGACTTTCATCTTAGTAGAATCTCAGAAGTGAATGACTCTAAGCTTAACCGTGATAAGCAGTAAACTTAGATATCTACAAAGCCAAAGAGAGGATACACACTTTATATGATTGTTGTCA | GGCATCCCCATTTTATAGATGAGAAAACTGAATCTTAGTGTTTACGTAACCTTTTCAGGCCCCTATGGCTGGTAAGCAGCAAAGGACAGGCTCAAACCCAGGCTCTCATTTCTATGCTCTTAACCTTATTATAATATAGTCACTTGTTTACTTGTACCTCTCACTAAAATGTGACCTTTCGATGTTAAGATATATGTCATTACTTCTTTATCTTTGGTACCCAATTCAAAATAGTTGCACAATAAATATTAAGGACTATCAACCACATCATTTGCTTGTTATTTTGCAGACACACAACAAAAGGTCGACGGGTAAAAATATGGACGCATGAGACACAACTCAGAAACCCTGAGCTGGGTGACAATGGTGGCCTTTTCTCTCCTTCAGGATGGCATTAGGAGCTTAGTTGGTGCCAACCAATGTTTTATCTGCAAGTGTGGCCTCAAGTCACCATCATTCAGACCTTTCACCATATCATACCTCAGGGTGAGGGATCTGAGATGCTTCTGCCAACATTCCCAGTATATCAGGGCAGCTCATGACATGCCTCCATGTTTTCCATGTGGGTCATCAAACAACAGAGCACCAGAGAGGGTTGAACTAAATGAATACTCAAGTGCCTTCCAGTCCATTTACAGCCTCCATTTCAGCTGCAATTCCCAACTGTCTCCAATTAGCAAACCTTTGCACAGACATCATGAAGGCATCATGTGCTCCCTGTAGCTTGTAAAACAGCTATGATTTTGGTGCCTTAGCACCATCTTGTAACCCAAATCTCCAGCTCAACTTTGCTTTCCACTGAAGCTCTTCATCCTGCTCCAACAGGCACCTTGTACCCACACCCAAGTTCCCACAAAAACTCAAGAGAGACCAGTGAGTTACTCTGATGTTTATTTTAATGCATCTTAGTCCACACAGTTGGTATAAAATCAGAAAATGCAAAGCAAAAACAAAAGGTCTGGAGTCTTAGCATCAGAAGGGCACCATATATACATCTACAGTTGGTGGCCAATACAAGTCATTGCCAGACAGTCCTTGGAGGCACAGAACAGCCTAGACCCAGCCAAGCTCTAGGAACTCACGGTCCCAAGGAGTCTAGACGCTTGTTCTGATGCTCCGACCGTAAGAAAAATGTGGGAGTGATGAAGGCTTTATGATTTACTCATTATAGTAATAATAGCAGCCTAGCTAGGTACAAAAGCAGTTATAAACCATTTATATTACACAGAATTATTCAGGTCTCCATTCTATCTTATGTTGTAAAATTGTTAATTGGATTTCCAGTGAGTTGTTTAGATGATTAGTGATAATAAGGAATGGTAAATCCATAGCACCATTTCAAAGACTTGTTGTCACTGATTTCTCATTTAGATGTGTGACGAAGATACTCCACCTGTAAGGGCAAGTATGCCAATGCCACAAGCCGTGTTTTTGCAAGGGCTCCAGTTTGGGCATTTTGTCCGTGTGCGCGTAAAGCTTCACACAGAGGTTCGGGCAGCGGCTGTTTCTGTTGGATGCACTGGGTCACCCACCAGAAAAGGGCTTTTGGACATTTGGGGTTTCTACCCACACTTTGGTTTTCTAAATGAGGTGGACTGGGAGGGAGGTATCTTCTTTCAGATGAAAGGGAAGGGGCGAGATGGAGTTATCTTATTTCTGGGTAAAACAAAACAAACAAACAAAAAACAAAACAAAAATACTGAGCTGGATTATACTGTTAGGATGTAAAGTTCCTTAGCTACTTCTTTAAGGCTCAACACGAGGCTGATGGTCAACATAAAAAGCAAACAATACTATGTACATATATGTAAAAAGTGTTATAAATAGGTTTTATAAACCGGAGATATTATATACATCTTCAATCAACAGCAACCCCCACCTCCACTGCTTTCTGTTTGGTTTGGTTTGAGTTTGGGATTTTGGGCTAGCTCTTTTTTCTTTGTCTGCTTTCTGTTTTCCCTTCCTCCCTTCCCTATGTACGCTCAGAGCCTCAGACAGACCGTCTGGGCGCCTCATTCGCGTTTCCGCAAGATCACATAGATGACACCTCTGAGAAGGGCCAGGGGGAAGGCCACCCAGGCCAGGATGTAGGCGAAACCGTAGGAGTAATCCGAGTTGAGATGCCACTCCGGGTGCCTCACCGTGTAGATGGCCGCAGCACTCATCACGCACAGACCTGGGGAAGGAGAGGGACAAGCTGGGTGACGGAGAGTCCATGGCAGAGCGGCCCCCTCTCCGCCACCCCGGATGCTGACAATTGCTGGGTAGGAAGAACATTTCTACCTCTGGAAGGAAATCTGCTTCCAGGTCCAGAATTGAAAGGAGGTAGCACAAAAATATGGGAACAAGGAAAACAACTTGCTCTCTATTTCCAATCTTGGCCACCTAGGCCTTAATACCTGAGGGTTTTCTTTACATTTTCTGCCCTATTTCTCTTTCTTTCACTGTCACCAATTCCCAGGCCACACTACATGGCCAGCAGGCATTCAGGCTGCAAGAAAAACCTACCTGTCTCTTTCCAAGGGTGGTTGGGTATGGAAACCCCTGGAAATCTATATGCCACTCTACAAGTGAGTGGTGGCATTACCTAAAGCCAATGGAAGTGAAGTGACATTTTACCATTATTGGAGTCACGCCATGGTAAAAGGATTAAGCTCCATGCAGACCACAGGGGCCTATGGTCCCCCTAACAGAGTTGCCACATACCAGGTGAAGCAAGCAATGCCTATGGGCACTGCCAAACAGACAAAGAAATGTGTGGAGAGGGAAAAAGAAAGTGAGGAATAAGGATGCAGCCGACAGTATGACTGGGAAGCCACGCTGCAGAGGGGGAAGATGATCAAAGGCAAGCTCCATTTCCCTGGGTGCCCCAAGGTTGCATTTGAAGCCCAAAGAAGGCTAAAGGGCACTGGATATGCAGGTGGGTCAGGCCACCCTCCCTGGCCCACCAATGCAGCCCTTCGGTGTTGGAAAGAGAAGAAAAGCCTCCATCTTGGGCCCTGTGGAGCAGCCACGCTCAAACTGATGGCCCCAGCTCACGTGACAGACAGCGTCCCCCCACAAGGAGGGGTCCAGTGATGTCAGCACCCCAGCCTGGAGCTGCACAAAGCCTGGTCTGTTTCCTCCCTGAAAACAGGGTCTTTGAGAAGCTCTGAGTGACTCTATTATAAATCCAGTATGCCGTGTGGGATTCATGCAGTTCCAGAGTTCCCAATGCACCCGCGCCCCCCCACCGCCCGGCCACCTACATCTAACCTCACTGCTATTTGGGCTGCTGTTTTACTGGACACTGCAACTTTGTTTGAAGACAGTGCAGAAGTGGGAATACGCCACATGAACCACCCTGTTAAGCCTGTCCTCCTGCAACTCAGAGGAGAAAACTGCCACTTGACTGGCCCCTGTCAAGAGAGCCACACAATAGTCTTGGAACCAAAATGGGACAGCATCCAGGACCTGCCACCTACAGGAAGTTCAGAAGACAGCAAAGATGGCCATGTCAGGAGCGAAATCATTGCGGGTTAATTGTTGATTGCAGAAAACAGCAGTTTTGATCTGCTGGGGACACACTTTATTTGCCTTGAGGTCCAGGATCCTTAATTATCTTGCCCCACTCTTCCACGGCTTGCATCTCCAAAGTGCTAACTCTTGTCTTTAAGAAATACTGAAGTTGTCTCTTGGGCTCTGTCTGACTTATCTAATGAAGGCAGGGCTATAAAAAAGGAAACATGACCTTGGCAGAGAGAAAGGTGTTAACAGAGTGCTAGCAGGGCAGGACAACACTTATCATCATGCAGGCAGGGCTCCCAAATGGGCTGTCTAACCAGATCTGGCATGAGAAATGCCTCAGGAGCTGAGTGGACCAGCTACTCCCCGATTTCACTGACTAAGAGGAGATACCAGATTCCATCCTTGAACAAGAGGGATAGAAAGAGGCAGTATAGAGAAGTGCAGCGACTAACTACACAGCTTAATGTGTATGACTTTCATCTTAGTAGAATCTCAGAAGTGAATGACTCTAAGCTTAACCGTGATAAGCAGTAAACTTAGATATCTACAAAGCCAAAGAGAGGATACACACTTTATATGATTGTTGTCA 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Task1_train_23825 | Given this context: Chromosome 17, gene PMP22 (peripheral myelin protein 22) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Dejerine-Sottas disease | TTCAATGTGACTGGGTCTTATAGTACAGGCTTGTATTCATCACAGATGTTTGGAACTTCAGAATAATACATGGTGCAAATTTGCATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAACCCAATCATCGCTTATGAAACTAACATTTCAATAGAAATACATTATGAAAGTTCTGGTTCTAAATCCATATTATCTTGAGGGCATATCCACTGATGCAATGGATATGATCATTATTTGATTTGATATCAAACTAAAACGAGTGAGAAAAAAAAAAAGAAACCCCAGAATATGTTACAGTTGTTTTTATTCCAACTGAAAATTGAGTAAGGGTAACTCTTCACTTTAACGTACCTAGAAATGATATCTCCTTGCATAATTAGTCATTTAACAGAGCCAGCAACCATCCAGGAGCTTGGCTTGGTGTCATAAGACATGTGTAAGTAGCAAAGCACTGTCTGGTTTTGAAATCTCAAAACCATGAGTATTGAAATGTTGTATTTGAGTGTTTAATGAGAAGTGGTTAATCATTTACTTCCTTTTTTCAGGAAAGGGGAACTCTCTGTCTTCTAGACAAGGTCACCAACATCTAACCTTGGGCTGTGTCTTCCCATACAACCCTATTTACGTCAACCTTCCAATGACTGCTCCTGGGGACAGAGTGGTGAAATGGTACCATGGGCATTCTGACAACCAACTCAGAGAAGAGATGCTACATCCTTTGCCCTCTCAGAGGGTCAGAATTGAGAACATCTCCCAGTACCTAGACATACTCTGGTACATATGAAGTTTGTGATCTATGAATTTGGACCACAGAATCCACCACTACATCTAGCTCTTACTTCTCTCCAATGCCCTGCTGGTTCAGTCAACAGTAAGTCAACAGACAGACATGTAAGAGCTAATGTAAGATGCTAGGCAGAATGCAAGATGTAAGATGTAAGATGTAAGATGTAAGCATGTAAGATGCTAGGCAGAATCCAGAGACAAAGTTGGAAGATGTCACCCTGTGTAACAGAAGTTTCTAGGACTCTGCACACTATGCATATTAATAACGTATTTAAAGAGGGAACTTGAAGACAGTTTAGGCAGGAGATTAAGGAGACCTCTCATGTGTTTTCATGTGTTGTCATAGCCCCATGTTTGGAAATGACAATATGTGACACAAGAGTGTCAAAATGAAGACACCAGAGGATGACAACAGTCAATCAAAGCCCAGTAGAATCTAGGAACTGGAAGCAAGGAAGGTGAGAATTTGTCAGTGTGGCTTCATCACTACCTATTGGTGGAAGACACATACCTGATAACTACTTTGCTAGTTCTTAGCACATCAGGGCCATTTTCTGGAGGCATAATGTAATCTACAGAAACAGCTCTCAAGCCTGACCTTTGCTCTACAGATAGCCTCAGTATTCACCTCTGATTATGTGTCCAGATTGCAGTTTCATTCCTGTTGATACGCCTGGCTTGGGTGGGGACCTTCCTTCCAGATCCTCTAAGTTCTCTTTCATATGCATCTCATTCCAGGGAGAAGGGGAGAGTTCTAAGTCCCAAGTTCTAAGACACATACAGGTACACACCCACACATACAAGCACCCACCCTCACTTTATGGAAAGCATCCAGTGGGGAGACTCATGAACATCAGTCATTCTGAGGCCACATCCTTCTACTAAACTAATCATTCCGCAGACTTGGATGCACCCCGCTTCCACATGGACTTTACCATCCACAACTTACCAGCAAGAATTTGGAAGATTCCAGTGATGTAAAACCTGCCCCCCTTGGTGAGGGTGAAGAGTTGGCAGAAGAACAGGAACAGAGACAGAATGCTGAAGATGATCGACAGGATCATGGTGGCCTGGACAGACTGCAGCCATTCTGGGGGAAAGAGACACTTGGTTAGGAGAGCTGGCCATGGCCGGGGGAGGGCTCTGCCTCGAGGTGCAGGGCCTGAAGGGCCATGACTGCTGACAGCACAGTCCTCACAGGCAGCAGAAGCAGAAGTCCTTTTTCCTTAGCAGAACTCAGACAATTCACTTTTGCAATCTAAGAAGACATTCTTTATTGTTTATTTTGGAGGAAAAAATATATACATATATACATACATCTATATGTACTGATATATACATATACAAACACACACATGTGCCAATATGTACACATTACATACATATATACCTATATGTACAAATATGCATACAAATATGTACGTGTTTCTATATATATGTGTATATACACATATACAAATACGTGACACACACATATATATAAAAAACACATGTGAACATTCAGGGAAGGGCTGTAAAAAAATATCTATAGTTCCATCACTAGGAGTTAAAGTCATTTTAAAATATATTGAATTTCCTTCCAGTGTTGGTGCAAATGTGTTACTTATGTACATGTGTCTGTGTTAAAGAGGGCCTGAGCCCTGCCTACTACCTTCCCTCTTCTTGCCCTCAGGGGTCTTTGAAGGGCTTATCAGAACTTCTGTATTCCAAGAAAAATAGCTTAAAACCACTATTCAAATTATCTGCATTCCCCAAGGAGAGGTAAAGATCACGGGAATGGCTGTTAGAGCCCAAAGTAATTTTTTGGAAGAATGGAAGAAAATACTGATGAAGAAAGGTATGCTCTCTATAGGTATGGAAATCAATTTGCTTGGACAACCCGTATTTTTTTTTTTTTTTTTTTTTGGTCAACTCTGATCATGGCCATTAGCCTCAGCACAGAGCGGTGTGTGATCGCCAACCACCAGACGGGATGAAGGCTTACACTTCCTTATCTCTGTTGAACCCCAAATCTCCAAGCTTCCAACTGAAATTCAGGCAAGAAGACAGAGCCTCCTATGGTTTCTTCAGTTCACCATCCGCTGCAAACTCATGTCATTTCAGGGAGGAAAGAAGAAACAACCTGAGTTCCACACTGTAGAGGGAAGCCCAGGGTAAAAATCTGCATTTGGCCTCTGTCTTGTCTTCCAAGTGCCACAGAATGCTGGGGGCAGGCACTGCTCTCATGGAGGAAGGGCAACTGGGGAAGCTGCAGCATTTAATCCTTTCAGCTCAGTAACTGCCATATGTAATGGCTTCAAAAGCATACCTTCAATGCTTCACCCAGTACTCACAGCTCTGAAATCTGGATGGTTTATAATTAGTAACTGAGTAAGATAAACTTGTTTTGAGTTGTAAGCAGCTCATGGCAGAATTTTAAGGGTGCAAATTAGGTTAACTGTTCCTAGATTTTCACCTAAGATGTTTCCAAGGCACAGACTGGAGATATTTTAGAGTTGGAAGAAACCTGAGAGATCAACTAGTCCAGCTCCTTTGCACTGAAAGAGATTTCCAGAGGTGTTTTCATGAGCCCAAATGACACAGCCAAATCTAAGAGGCCTTTGATTCTAGTCTAGCACTCTTCACATTCAAGCACAACATATGCTTCTTTCATTTTTTCAATTTCTTTGTCAATTAAAGTAAGAAAATGACGGCTAATGGGTTGTGAGCCATCCTGATTTCACTCTTACATAACCTTAATCAAATGTTTGTCTTTATCCAGCATAGAGGTTCTTCTGGAGGAGCACTTTGCAATAAAGATAATGTTCTCATAATATTGTTTGCTTAAAATAAAAAAATTATCTAGCACTTTGGTAGATGCAGCTGGAATTACAAAGAAATCTGAGACTCAAATCTGAAACTAAAACAAATAAAGGGATTCACTTTGGCTGGGAAATGTCCTTCCATGTGCATGTTCATGAGGAGTATGGCTGGTGGAGACAATATCTTAGATTTCCTTCTCCAATCCTGAGATACTGT 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TTCAATGTGACTGGGTCTTATAGTACAGGCTTGTATTCATCACAGATGTTTGGAACTTCAGAATAATACATGGTGCAAATTTGCATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAACCCAATCATCGCTTATGAAACTAACATTTCAATAGAAATACATTATGAAAGTTCTGGTTCTAAATCCATATTATCTTGAGGGCATATCCACTGATGCAATGGATATGATCATTATTTGATTTGATATCAAACTAAAACGAGTGAGAAAAAAAAAAAGAAACCCCAGAATATGTTACAGTTGTTTTTATTCCAACTGAAAATTGAGTAAGGGTAACTCTTCACTTTAACGTACCTAGAAATGATATCTCCTTGCATAATTAGTCATTTAACAGAGCCAGCAACCATCCAGGAGCTTGGCTTGGTGTCATAAGACATGTGTAAGTAGCAAAGCACTGTCTGGTTTTGAAATCTCAAAACCATGAGTATTGAAATGTTGTATTTGAGTGTTTAATGAGAAGTGGTTAATCATTTACTTCCTTTTTTCAGGAAAGGGGAACTCTCTGTCTTCTAGACAAGGTCACCAACATCTAACCTTGGGCTGTGTCTTCCCATACAACCCTATTTACGTCAACCTTCCAATGACTGCTCCTGGGGACAGAGTGGTGAAATGGTACCATGGGCATTCTGACAACCAACTCAGAGAAGAGATGCTACATCCTTTGCCCTCTCAGAGGGTCAGAATTGAGAACATCTCCCAGTACCTAGACATACTCTGGTACATATGAAGTTTGTGATCTATGAATTTGGACCACAGAATCCACCACTACATCTAGCTCTTACTTCTCTCCAATGCCCTGCTGGTTCAGTCAACAGTAAGTCAACAGACAGACATGTAAGAGCTAATGTAAGATGCTAGGCAGAATGCAAGATGTAAGATGTAAGATGTAAGATGTAAGCATGTAAGATGCTAGGCAGAATCCAGAGACAAAGTTGGAAGATGTCACCCTGTGTAACAGAAGTTTCTAGGACTCTGCACACTATGCATATTAATAACGTATTTAAAGAGGGAACTTGAAGACAGTTTAGGCAGGAGATTAAGGAGACCTCTCATGTGTTTTCATGTGTTGTCATAGCCCCATGTTTGGAAATGACAATATGTGACACAAGAGTGTCAAAATGAAGACACCAGAGGATGACAACAGTCAATCAAAGCCCAGTAGAATCTAGGAACTGGAAGCAAGGAAGGTGAGAATTTGTCAGTGTGGCTTCATCACTACCTATTGGTGGAAGACACATACCTGATAACTACTTTGCTAGTTCTTAGCACATCAGGGCCATTTTCTGGAGGCATAATGTAATCTACAGAAACAGCTCTCAAGCCTGACCTTTGCTCTACAGATAGCCTCAGTATTCACCTCTGATTATGTGTCCAGATTGCAGTTTCATTCCTGTTGATACGCCTGGCTTGGGTGGGGACCTTCCTTCCAGATCCTCTAAGTTCTCTTTCATATGCATCTCATTCCAGGGAGAAGGGGAGAGTTCTAAGTCCCAAGTTCTAAGACACATACAGGTACACACCCACACATACAAGCACCCACCCTCACTTTATGGAAAGCATCCAGTGGGGAGACTCATGAACATCAGTCATTCTGAGGCCACATCCTTCTACTAAACTAATCATTCCGCAGACTTGGATGCACCCCGCTTCCACATGGACTTTACCATCCACAACTTACCAGCAAGAATTTGGAAGATTCTAGTGATGTAAAACCTGCCCCCCTTGGTGAGGGTGAAGAGTTGGCAGAAGAACAGGAACAGAGACAGAATGCTGAAGATGATCGACAGGATCATGGTGGCCTGGACAGACTGCAGCCATTCTGGGGGAAAGAGACACTTGGTTAGGAGAGCTGGCCATGGCCGGGGGAGGGCTCTGCCTCGAGGTGCAGGGCCTGAAGGGCCATGACTGCTGACAGCACAGTCCTCACAGGCAGCAGAAGCAGAAGTCCTTTTTCCTTAGCAGAACTCAGACAATTCACTTTTGCAATCTAAGAAGACATTCTTTATTGTTTATTTTGGAGGAAAAAATATATACATATATACATACATCTATATGTACTGATATATACATATACAAACACACACATGTGCCAATATGTACACATTACATACATATATACCTATATGTACAAATATGCATACAAATATGTACGTGTTTCTATATATATGTGTATATACACATATACAAATACGTGACACACACATATATATAAAAAACACATGTGAACATTCAGGGAAGGGCTGTAAAAAAATATCTATAGTTCCATCACTAGGAGTTAAAGTCATTTTAAAATATATTGAATTTCCTTCCAGTGTTGGTGCAAATGTGTTACTTATGTACATGTGTCTGTGTTAAAGAGGGCCTGAGCCCTGCCTACTACCTTCCCTCTTCTTGCCCTCAGGGGTCTTTGAAGGGCTTATCAGAACTTCTGTATTCCAAGAAAAATAGCTTAAAACCACTATTCAAATTATCTGCATTCCCCAAGGAGAGGTAAAGATCACGGGAATGGCTGTTAGAGCCCAAAGTAATTTTTTGGAAGAATGGAAGAAAATACTGATGAAGAAAGGTATGCTCTCTATAGGTATGGAAATCAATTTGCTTGGACAACCCGTATTTTTTTTTTTTTTTTTTTTTGGTCAACTCTGATCATGGCCATTAGCCTCAGCACAGAGCGGTGTGTGATCGCCAACCACCAGACGGGATGAAGGCTTACACTTCCTTATCTCTGTTGAACCCCAAATCTCCAAGCTTCCAACTGAAATTCAGGCAAGAAGACAGAGCCTCCTATGGTTTCTTCAGTTCACCATCCGCTGCAAACTCATGTCATTTCAGGGAGGAAAGAAGAAACAACCTGAGTTCCACACTGTAGAGGGAAGCCCAGGGTAAAAATCTGCATTTGGCCTCTGTCTTGTCTTCCAAGTGCCACAGAATGCTGGGGGCAGGCACTGCTCTCATGGAGGAAGGGCAACTGGGGAAGCTGCAGCATTTAATCCTTTCAGCTCAGTAACTGCCATATGTAATGGCTTCAAAAGCATACCTTCAATGCTTCACCCAGTACTCACAGCTCTGAAATCTGGATGGTTTATAATTAGTAACTGAGTAAGATAAACTTGTTTTGAGTTGTAAGCAGCTCATGGCAGAATTTTAAGGGTGCAAATTAGGTTAACTGTTCCTAGATTTTCACCTAAGATGTTTCCAAGGCACAGACTGGAGATATTTTAGAGTTGGAAGAAACCTGAGAGATCAACTAGTCCAGCTCCTTTGCACTGAAAGAGATTTCCAGAGGTGTTTTCATGAGCCCAAATGACACAGCCAAATCTAAGAGGCCTTTGATTCTAGTCTAGCACTCTTCACATTCAAGCACAACATATGCTTCTTTCATTTTTTCAATTTCTTTGTCAATTAAAGTAAGAAAATGACGGCTAATGGGTTGTGAGCCATCCTGATTTCACTCTTACATAACCTTAATCAAATGTTTGTCTTTATCCAGCATAGAGGTTCTTCTGGAGGAGCACTTTGCAATAAAGATAATGTTCTCATAATATTGTTTGCTTAAAATAAAAAAATTATCTAGCACTTTGGTAGATGCAGCTGGAATTACAAAGAAATCTGAGACTCAAATCTGAAACTAAAACAAATAAAGGGATTCACTTTGGCTGGGAAATGTCCTTCCATGTGCATGTTCATGAGGAGTATGGCTGGTGGAGACAATATCTTAGATTTCCTTCTCCAATCCTGAGATACTGT 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Task1_train_23826 | A variant on Chromosome 17 in gene PMP22 (peripheral myelin protein 22) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Charcot-Marie-Tooth disease, type I | ATAATACATGGTGCAAATTTGCATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAACCCAATCATCGCTTATGAAACTAACATTTCAATAGAAATACATTATGAAAGTTCTGGTTCTAAATCCATATTATCTTGAGGGCATATCCACTGATGCAATGGATATGATCATTATTTGATTTGATATCAAACTAAAACGAGTGAGAAAAAAAAAAAGAAACCCCAGAATATGTTACAGTTGTTTTTATTCCAACTGAAAATTGAGTAAGGGTAACTCTTCACTTTAACGTACCTAGAAATGATATCTCCTTGCATAATTAGTCATTTAACAGAGCCAGCAACCATCCAGGAGCTTGGCTTGGTGTCATAAGACATGTGTAAGTAGCAAAGCACTGTCTGGTTTTGAAATCTCAAAACCATGAGTATTGAAATGTTGTATTTGAGTGTTTAATGAGAAGTGGTTAATCATTTACTTCCTTTTTTCAGGAAAGGGGAACTCTCTGTCTTCTAGACAAGGTCACCAACATCTAACCTTGGGCTGTGTCTTCCCATACAACCCTATTTACGTCAACCTTCCAATGACTGCTCCTGGGGACAGAGTGGTGAAATGGTACCATGGGCATTCTGACAACCAACTCAGAGAAGAGATGCTACATCCTTTGCCCTCTCAGAGGGTCAGAATTGAGAACATCTCCCAGTACCTAGACATACTCTGGTACATATGAAGTTTGTGATCTATGAATTTGGACCACAGAATCCACCACTACATCTAGCTCTTACTTCTCTCCAATGCCCTGCTGGTTCAGTCAACAGTAAGTCAACAGACAGACATGTAAGAGCTAATGTAAGATGCTAGGCAGAATGCAAGATGTAAGATGTAAGATGTAAGATGTAAGCATGTAAGATGCTAGGCAGAATCCAGAGACAAAGTTGGAAGATGTCACCCTGTGTAACAGAAGTTTCTAGGACTCTGCACACTATGCATATTAATAACGTATTTAAAGAGGGAACTTGAAGACAGTTTAGGCAGGAGATTAAGGAGACCTCTCATGTGTTTTCATGTGTTGTCATAGCCCCATGTTTGGAAATGACAATATGTGACACAAGAGTGTCAAAATGAAGACACCAGAGGATGACAACAGTCAATCAAAGCCCAGTAGAATCTAGGAACTGGAAGCAAGGAAGGTGAGAATTTGTCAGTGTGGCTTCATCACTACCTATTGGTGGAAGACACATACCTGATAACTACTTTGCTAGTTCTTAGCACATCAGGGCCATTTTCTGGAGGCATAATGTAATCTACAGAAACAGCTCTCAAGCCTGACCTTTGCTCTACAGATAGCCTCAGTATTCACCTCTGATTATGTGTCCAGATTGCAGTTTCATTCCTGTTGATACGCCTGGCTTGGGTGGGGACCTTCCTTCCAGATCCTCTAAGTTCTCTTTCATATGCATCTCATTCCAGGGAGAAGGGGAGAGTTCTAAGTCCCAAGTTCTAAGACACATACAGGTACACACCCACACATACAAGCACCCACCCTCACTTTATGGAAAGCATCCAGTGGGGAGACTCATGAACATCAGTCATTCTGAGGCCACATCCTTCTACTAAACTAATCATTCCGCAGACTTGGATGCACCCCGCTTCCACATGGACTTTACCATCCACAACTTACCAGCAAGAATTTGGAAGATTCCAGTGATGTAAAACCTGCCCCCCTTGGTGAGGGTGAAGAGTTGGCAGAAGAACAGGAACAGAGACAGAATGCTGAAGATGATCGACAGGATCATGGTGGCCTGGACAGACTGCAGCCATTCTGGGGGAAAGAGACACTTGGTTAGGAGAGCTGGCCATGGCCGGGGGAGGGCTCTGCCTCGAGGTGCAGGGCCTGAAGGGCCATGACTGCTGACAGCACAGTCCTCACAGGCAGCAGAAGCAGAAGTCCTTTTTCCTTAGCAGAACTCAGACAATTCACTTTTGCAATCTAAGAAGACATTCTTTATTGTTTATTTTGGAGGAAAAAATATATACATATATACATACATCTATATGTACTGATATATACATATACAAACACACACATGTGCCAATATGTACACATTACATACATATATACCTATATGTACAAATATGCATACAAATATGTACGTGTTTCTATATATATGTGTATATACACATATACAAATACGTGACACACACATATATATAAAAAACACATGTGAACATTCAGGGAAGGGCTGTAAAAAAATATCTATAGTTCCATCACTAGGAGTTAAAGTCATTTTAAAATATATTGAATTTCCTTCCAGTGTTGGTGCAAATGTGTTACTTATGTACATGTGTCTGTGTTAAAGAGGGCCTGAGCCCTGCCTACTACCTTCCCTCTTCTTGCCCTCAGGGGTCTTTGAAGGGCTTATCAGAACTTCTGTATTCCAAGAAAAATAGCTTAAAACCACTATTCAAATTATCTGCATTCCCCAAGGAGAGGTAAAGATCACGGGAATGGCTGTTAGAGCCCAAAGTAATTTTTTGGAAGAATGGAAGAAAATACTGATGAAGAAAGGTATGCTCTCTATAGGTATGGAAATCAATTTGCTTGGACAACCCGTATTTTTTTTTTTTTTTTTTTTTGGTCAACTCTGATCATGGCCATTAGCCTCAGCACAGAGCGGTGTGTGATCGCCAACCACCAGACGGGATGAAGGCTTACACTTCCTTATCTCTGTTGAACCCCAAATCTCCAAGCTTCCAACTGAAATTCAGGCAAGAAGACAGAGCCTCCTATGGTTTCTTCAGTTCACCATCCGCTGCAAACTCATGTCATTTCAGGGAGGAAAGAAGAAACAACCTGAGTTCCACACTGTAGAGGGAAGCCCAGGGTAAAAATCTGCATTTGGCCTCTGTCTTGTCTTCCAAGTGCCACAGAATGCTGGGGGCAGGCACTGCTCTCATGGAGGAAGGGCAACTGGGGAAGCTGCAGCATTTAATCCTTTCAGCTCAGTAACTGCCATATGTAATGGCTTCAAAAGCATACCTTCAATGCTTCACCCAGTACTCACAGCTCTGAAATCTGGATGGTTTATAATTAGTAACTGAGTAAGATAAACTTGTTTTGAGTTGTAAGCAGCTCATGGCAGAATTTTAAGGGTGCAAATTAGGTTAACTGTTCCTAGATTTTCACCTAAGATGTTTCCAAGGCACAGACTGGAGATATTTTAGAGTTGGAAGAAACCTGAGAGATCAACTAGTCCAGCTCCTTTGCACTGAAAGAGATTTCCAGAGGTGTTTTCATGAGCCCAAATGACACAGCCAAATCTAAGAGGCCTTTGATTCTAGTCTAGCACTCTTCACATTCAAGCACAACATATGCTTCTTTCATTTTTTCAATTTCTTTGTCAATTAAAGTAAGAAAATGACGGCTAATGGGTTGTGAGCCATCCTGATTTCACTCTTACATAACCTTAATCAAATGTTTGTCTTTATCCAGCATAGAGGTTCTTCTGGAGGAGCACTTTGCAATAAAGATAATGTTCTCATAATATTGTTTGCTTAAAATAAAAAAATTATCTAGCACTTTGGTAGATGCAGCTGGAATTACAAAGAAATCTGAGACTCAAATCTGAAACTAAAACAAATAAAGGGATTCACTTTGGCTGGGAAATGTCCTTCCATGTGCATGTTCATGAGGAGTATGGCTGGTGGAGACAATATCTTAGATTTCCTTCTCCAATCCTGAGATACTGTCTTCACCCTTAACCCCGCGCCCCTGTCATTTTCAGCAGAAACTACTACGAGACCTCACATAC 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ATAATACATGGTGCAAATTTGCATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAACCCAATCATCGCTTATGAAACTAACATTTCAATAGAAATACATTATGAAAGTTCTGGTTCTAAATCCATATTATCTTGAGGGCATATCCACTGATGCAATGGATATGATCATTATTTGATTTGATATCAAACTAAAACGAGTGAGAAAAAAAAAAAGAAACCCCAGAATATGTTACAGTTGTTTTTATTCCAACTGAAAATTGAGTAAGGGTAACTCTTCACTTTAACGTACCTAGAAATGATATCTCCTTGCATAATTAGTCATTTAACAGAGCCAGCAACCATCCAGGAGCTTGGCTTGGTGTCATAAGACATGTGTAAGTAGCAAAGCACTGTCTGGTTTTGAAATCTCAAAACCATGAGTATTGAAATGTTGTATTTGAGTGTTTAATGAGAAGTGGTTAATCATTTACTTCCTTTTTTCAGGAAAGGGGAACTCTCTGTCTTCTAGACAAGGTCACCAACATCTAACCTTGGGCTGTGTCTTCCCATACAACCCTATTTACGTCAACCTTCCAATGACTGCTCCTGGGGACAGAGTGGTGAAATGGTACCATGGGCATTCTGACAACCAACTCAGAGAAGAGATGCTACATCCTTTGCCCTCTCAGAGGGTCAGAATTGAGAACATCTCCCAGTACCTAGACATACTCTGGTACATATGAAGTTTGTGATCTATGAATTTGGACCACAGAATCCACCACTACATCTAGCTCTTACTTCTCTCCAATGCCCTGCTGGTTCAGTCAACAGTAAGTCAACAGACAGACATGTAAGAGCTAATGTAAGATGCTAGGCAGAATGCAAGATGTAAGATGTAAGATGTAAGATGTAAGCATGTAAGATGCTAGGCAGAATCCAGAGACAAAGTTGGAAGATGTCACCCTGTGTAACAGAAGTTTCTAGGACTCTGCACACTATGCATATTAATAACGTATTTAAAGAGGGAACTTGAAGACAGTTTAGGCAGGAGATTAAGGAGACCTCTCATGTGTTTTCATGTGTTGTCATAGCCCCATGTTTGGAAATGACAATATGTGACACAAGAGTGTCAAAATGAAGACACCAGAGGATGACAACAGTCAATCAAAGCCCAGTAGAATCTAGGAACTGGAAGCAAGGAAGGTGAGAATTTGTCAGTGTGGCTTCATCACTACCTATTGGTGGAAGACACATACCTGATAACTACTTTGCTAGTTCTTAGCACATCAGGGCCATTTTCTGGAGGCATAATGTAATCTACAGAAACAGCTCTCAAGCCTGACCTTTGCTCTACAGATAGCCTCAGTATTCACCTCTGATTATGTGTCCAGATTGCAGTTTCATTCCTGTTGATACGCCTGGCTTGGGTGGGGACCTTCCTTCCAGATCCTCTAAGTTCTCTTTCATATGCATCTCATTCCAGGGAGAAGGGGAGAGTTCTAAGTCCCAAGTTCTAAGACACATACAGGTACACACCCACACATACAAGCACCCACCCTCACTTTATGGAAAGCATCCAGTGGGGAGACTCATGAACATCAGTCATTCTGAGGCCACATCCTTCTACTAAACTAATCATTCCGCAGACTTGGATGCACCCCGCTTCCACATGGACTTTACCATCCACAACTTACCAGCAAGAATTTGGAAGATTCCAGTGATGTAAAACCTGCCCCCCTTGGTGAGGGTGAAGAGTTGGCAGAAGAACAGGAACAGAAACAGAATGCTGAAGATGATCGACAGGATCATGGTGGCCTGGACAGACTGCAGCCATTCTGGGGGAAAGAGACACTTGGTTAGGAGAGCTGGCCATGGCCGGGGGAGGGCTCTGCCTCGAGGTGCAGGGCCTGAAGGGCCATGACTGCTGACAGCACAGTCCTCACAGGCAGCAGAAGCAGAAGTCCTTTTTCCTTAGCAGAACTCAGACAATTCACTTTTGCAATCTAAGAAGACATTCTTTATTGTTTATTTTGGAGGAAAAAATATATACATATATACATACATCTATATGTACTGATATATACATATACAAACACACACATGTGCCAATATGTACACATTACATACATATATACCTATATGTACAAATATGCATACAAATATGTACGTGTTTCTATATATATGTGTATATACACATATACAAATACGTGACACACACATATATATAAAAAACACATGTGAACATTCAGGGAAGGGCTGTAAAAAAATATCTATAGTTCCATCACTAGGAGTTAAAGTCATTTTAAAATATATTGAATTTCCTTCCAGTGTTGGTGCAAATGTGTTACTTATGTACATGTGTCTGTGTTAAAGAGGGCCTGAGCCCTGCCTACTACCTTCCCTCTTCTTGCCCTCAGGGGTCTTTGAAGGGCTTATCAGAACTTCTGTATTCCAAGAAAAATAGCTTAAAACCACTATTCAAATTATCTGCATTCCCCAAGGAGAGGTAAAGATCACGGGAATGGCTGTTAGAGCCCAAAGTAATTTTTTGGAAGAATGGAAGAAAATACTGATGAAGAAAGGTATGCTCTCTATAGGTATGGAAATCAATTTGCTTGGACAACCCGTATTTTTTTTTTTTTTTTTTTTTGGTCAACTCTGATCATGGCCATTAGCCTCAGCACAGAGCGGTGTGTGATCGCCAACCACCAGACGGGATGAAGGCTTACACTTCCTTATCTCTGTTGAACCCCAAATCTCCAAGCTTCCAACTGAAATTCAGGCAAGAAGACAGAGCCTCCTATGGTTTCTTCAGTTCACCATCCGCTGCAAACTCATGTCATTTCAGGGAGGAAAGAAGAAACAACCTGAGTTCCACACTGTAGAGGGAAGCCCAGGGTAAAAATCTGCATTTGGCCTCTGTCTTGTCTTCCAAGTGCCACAGAATGCTGGGGGCAGGCACTGCTCTCATGGAGGAAGGGCAACTGGGGAAGCTGCAGCATTTAATCCTTTCAGCTCAGTAACTGCCATATGTAATGGCTTCAAAAGCATACCTTCAATGCTTCACCCAGTACTCACAGCTCTGAAATCTGGATGGTTTATAATTAGTAACTGAGTAAGATAAACTTGTTTTGAGTTGTAAGCAGCTCATGGCAGAATTTTAAGGGTGCAAATTAGGTTAACTGTTCCTAGATTTTCACCTAAGATGTTTCCAAGGCACAGACTGGAGATATTTTAGAGTTGGAAGAAACCTGAGAGATCAACTAGTCCAGCTCCTTTGCACTGAAAGAGATTTCCAGAGGTGTTTTCATGAGCCCAAATGACACAGCCAAATCTAAGAGGCCTTTGATTCTAGTCTAGCACTCTTCACATTCAAGCACAACATATGCTTCTTTCATTTTTTCAATTTCTTTGTCAATTAAAGTAAGAAAATGACGGCTAATGGGTTGTGAGCCATCCTGATTTCACTCTTACATAACCTTAATCAAATGTTTGTCTTTATCCAGCATAGAGGTTCTTCTGGAGGAGCACTTTGCAATAAAGATAATGTTCTCATAATATTGTTTGCTTAAAATAAAAAAATTATCTAGCACTTTGGTAGATGCAGCTGGAATTACAAAGAAATCTGAGACTCAAATCTGAAACTAAAACAAATAAAGGGATTCACTTTGGCTGGGAAATGTCCTTCCATGTGCATGTTCATGAGGAGTATGGCTGGTGGAGACAATATCTTAGATTTCCTTCTCCAATCCTGAGATACTGTCTTCACCCTTAACCCCGCGCCCCTGTCATTTTCAGCAGAAACTACTACGAGACCTCACATAC 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Task1_train_23827 | A variant was discovered in gene PMP22 (peripheral myelin protein 22), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Charcot-Marie-Tooth disease, type I | ATAATACATGGTGCAAATTTGCATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAACCCAATCATCGCTTATGAAACTAACATTTCAATAGAAATACATTATGAAAGTTCTGGTTCTAAATCCATATTATCTTGAGGGCATATCCACTGATGCAATGGATATGATCATTATTTGATTTGATATCAAACTAAAACGAGTGAGAAAAAAAAAAAGAAACCCCAGAATATGTTACAGTTGTTTTTATTCCAACTGAAAATTGAGTAAGGGTAACTCTTCACTTTAACGTACCTAGAAATGATATCTCCTTGCATAATTAGTCATTTAACAGAGCCAGCAACCATCCAGGAGCTTGGCTTGGTGTCATAAGACATGTGTAAGTAGCAAAGCACTGTCTGGTTTTGAAATCTCAAAACCATGAGTATTGAAATGTTGTATTTGAGTGTTTAATGAGAAGTGGTTAATCATTTACTTCCTTTTTTCAGGAAAGGGGAACTCTCTGTCTTCTAGACAAGGTCACCAACATCTAACCTTGGGCTGTGTCTTCCCATACAACCCTATTTACGTCAACCTTCCAATGACTGCTCCTGGGGACAGAGTGGTGAAATGGTACCATGGGCATTCTGACAACCAACTCAGAGAAGAGATGCTACATCCTTTGCCCTCTCAGAGGGTCAGAATTGAGAACATCTCCCAGTACCTAGACATACTCTGGTACATATGAAGTTTGTGATCTATGAATTTGGACCACAGAATCCACCACTACATCTAGCTCTTACTTCTCTCCAATGCCCTGCTGGTTCAGTCAACAGTAAGTCAACAGACAGACATGTAAGAGCTAATGTAAGATGCTAGGCAGAATGCAAGATGTAAGATGTAAGATGTAAGATGTAAGCATGTAAGATGCTAGGCAGAATCCAGAGACAAAGTTGGAAGATGTCACCCTGTGTAACAGAAGTTTCTAGGACTCTGCACACTATGCATATTAATAACGTATTTAAAGAGGGAACTTGAAGACAGTTTAGGCAGGAGATTAAGGAGACCTCTCATGTGTTTTCATGTGTTGTCATAGCCCCATGTTTGGAAATGACAATATGTGACACAAGAGTGTCAAAATGAAGACACCAGAGGATGACAACAGTCAATCAAAGCCCAGTAGAATCTAGGAACTGGAAGCAAGGAAGGTGAGAATTTGTCAGTGTGGCTTCATCACTACCTATTGGTGGAAGACACATACCTGATAACTACTTTGCTAGTTCTTAGCACATCAGGGCCATTTTCTGGAGGCATAATGTAATCTACAGAAACAGCTCTCAAGCCTGACCTTTGCTCTACAGATAGCCTCAGTATTCACCTCTGATTATGTGTCCAGATTGCAGTTTCATTCCTGTTGATACGCCTGGCTTGGGTGGGGACCTTCCTTCCAGATCCTCTAAGTTCTCTTTCATATGCATCTCATTCCAGGGAGAAGGGGAGAGTTCTAAGTCCCAAGTTCTAAGACACATACAGGTACACACCCACACATACAAGCACCCACCCTCACTTTATGGAAAGCATCCAGTGGGGAGACTCATGAACATCAGTCATTCTGAGGCCACATCCTTCTACTAAACTAATCATTCCGCAGACTTGGATGCACCCCGCTTCCACATGGACTTTACCATCCACAACTTACCAGCAAGAATTTGGAAGATTCCAGTGATGTAAAACCTGCCCCCCTTGGTGAGGGTGAAGAGTTGGCAGAAGAACAGGAACAGAGACAGAATGCTGAAGATGATCGACAGGATCATGGTGGCCTGGACAGACTGCAGCCATTCTGGGGGAAAGAGACACTTGGTTAGGAGAGCTGGCCATGGCCGGGGGAGGGCTCTGCCTCGAGGTGCAGGGCCTGAAGGGCCATGACTGCTGACAGCACAGTCCTCACAGGCAGCAGAAGCAGAAGTCCTTTTTCCTTAGCAGAACTCAGACAATTCACTTTTGCAATCTAAGAAGACATTCTTTATTGTTTATTTTGGAGGAAAAAATATATACATATATACATACATCTATATGTACTGATATATACATATACAAACACACACATGTGCCAATATGTACACATTACATACATATATACCTATATGTACAAATATGCATACAAATATGTACGTGTTTCTATATATATGTGTATATACACATATACAAATACGTGACACACACATATATATAAAAAACACATGTGAACATTCAGGGAAGGGCTGTAAAAAAATATCTATAGTTCCATCACTAGGAGTTAAAGTCATTTTAAAATATATTGAATTTCCTTCCAGTGTTGGTGCAAATGTGTTACTTATGTACATGTGTCTGTGTTAAAGAGGGCCTGAGCCCTGCCTACTACCTTCCCTCTTCTTGCCCTCAGGGGTCTTTGAAGGGCTTATCAGAACTTCTGTATTCCAAGAAAAATAGCTTAAAACCACTATTCAAATTATCTGCATTCCCCAAGGAGAGGTAAAGATCACGGGAATGGCTGTTAGAGCCCAAAGTAATTTTTTGGAAGAATGGAAGAAAATACTGATGAAGAAAGGTATGCTCTCTATAGGTATGGAAATCAATTTGCTTGGACAACCCGTATTTTTTTTTTTTTTTTTTTTTGGTCAACTCTGATCATGGCCATTAGCCTCAGCACAGAGCGGTGTGTGATCGCCAACCACCAGACGGGATGAAGGCTTACACTTCCTTATCTCTGTTGAACCCCAAATCTCCAAGCTTCCAACTGAAATTCAGGCAAGAAGACAGAGCCTCCTATGGTTTCTTCAGTTCACCATCCGCTGCAAACTCATGTCATTTCAGGGAGGAAAGAAGAAACAACCTGAGTTCCACACTGTAGAGGGAAGCCCAGGGTAAAAATCTGCATTTGGCCTCTGTCTTGTCTTCCAAGTGCCACAGAATGCTGGGGGCAGGCACTGCTCTCATGGAGGAAGGGCAACTGGGGAAGCTGCAGCATTTAATCCTTTCAGCTCAGTAACTGCCATATGTAATGGCTTCAAAAGCATACCTTCAATGCTTCACCCAGTACTCACAGCTCTGAAATCTGGATGGTTTATAATTAGTAACTGAGTAAGATAAACTTGTTTTGAGTTGTAAGCAGCTCATGGCAGAATTTTAAGGGTGCAAATTAGGTTAACTGTTCCTAGATTTTCACCTAAGATGTTTCCAAGGCACAGACTGGAGATATTTTAGAGTTGGAAGAAACCTGAGAGATCAACTAGTCCAGCTCCTTTGCACTGAAAGAGATTTCCAGAGGTGTTTTCATGAGCCCAAATGACACAGCCAAATCTAAGAGGCCTTTGATTCTAGTCTAGCACTCTTCACATTCAAGCACAACATATGCTTCTTTCATTTTTTCAATTTCTTTGTCAATTAAAGTAAGAAAATGACGGCTAATGGGTTGTGAGCCATCCTGATTTCACTCTTACATAACCTTAATCAAATGTTTGTCTTTATCCAGCATAGAGGTTCTTCTGGAGGAGCACTTTGCAATAAAGATAATGTTCTCATAATATTGTTTGCTTAAAATAAAAAAATTATCTAGCACTTTGGTAGATGCAGCTGGAATTACAAAGAAATCTGAGACTCAAATCTGAAACTAAAACAAATAAAGGGATTCACTTTGGCTGGGAAATGTCCTTCCATGTGCATGTTCATGAGGAGTATGGCTGGTGGAGACAATATCTTAGATTTCCTTCTCCAATCCTGAGATACTGTCTTCACCCTTAACCCCGCGCCCCTGTCATTTTCAGCAGAAACTACTACGAGACCTCACATAC 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ATAATACATGGTGCAAATTTGCATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAACCCAATCATCGCTTATGAAACTAACATTTCAATAGAAATACATTATGAAAGTTCTGGTTCTAAATCCATATTATCTTGAGGGCATATCCACTGATGCAATGGATATGATCATTATTTGATTTGATATCAAACTAAAACGAGTGAGAAAAAAAAAAAGAAACCCCAGAATATGTTACAGTTGTTTTTATTCCAACTGAAAATTGAGTAAGGGTAACTCTTCACTTTAACGTACCTAGAAATGATATCTCCTTGCATAATTAGTCATTTAACAGAGCCAGCAACCATCCAGGAGCTTGGCTTGGTGTCATAAGACATGTGTAAGTAGCAAAGCACTGTCTGGTTTTGAAATCTCAAAACCATGAGTATTGAAATGTTGTATTTGAGTGTTTAATGAGAAGTGGTTAATCATTTACTTCCTTTTTTCAGGAAAGGGGAACTCTCTGTCTTCTAGACAAGGTCACCAACATCTAACCTTGGGCTGTGTCTTCCCATACAACCCTATTTACGTCAACCTTCCAATGACTGCTCCTGGGGACAGAGTGGTGAAATGGTACCATGGGCATTCTGACAACCAACTCAGAGAAGAGATGCTACATCCTTTGCCCTCTCAGAGGGTCAGAATTGAGAACATCTCCCAGTACCTAGACATACTCTGGTACATATGAAGTTTGTGATCTATGAATTTGGACCACAGAATCCACCACTACATCTAGCTCTTACTTCTCTCCAATGCCCTGCTGGTTCAGTCAACAGTAAGTCAACAGACAGACATGTAAGAGCTAATGTAAGATGCTAGGCAGAATGCAAGATGTAAGATGTAAGATGTAAGATGTAAGCATGTAAGATGCTAGGCAGAATCCAGAGACAAAGTTGGAAGATGTCACCCTGTGTAACAGAAGTTTCTAGGACTCTGCACACTATGCATATTAATAACGTATTTAAAGAGGGAACTTGAAGACAGTTTAGGCAGGAGATTAAGGAGACCTCTCATGTGTTTTCATGTGTTGTCATAGCCCCATGTTTGGAAATGACAATATGTGACACAAGAGTGTCAAAATGAAGACACCAGAGGATGACAACAGTCAATCAAAGCCCAGTAGAATCTAGGAACTGGAAGCAAGGAAGGTGAGAATTTGTCAGTGTGGCTTCATCACTACCTATTGGTGGAAGACACATACCTGATAACTACTTTGCTAGTTCTTAGCACATCAGGGCCATTTTCTGGAGGCATAATGTAATCTACAGAAACAGCTCTCAAGCCTGACCTTTGCTCTACAGATAGCCTCAGTATTCACCTCTGATTATGTGTCCAGATTGCAGTTTCATTCCTGTTGATACGCCTGGCTTGGGTGGGGACCTTCCTTCCAGATCCTCTAAGTTCTCTTTCATATGCATCTCATTCCAGGGAGAAGGGGAGAGTTCTAAGTCCCAAGTTCTAAGACACATACAGGTACACACCCACACATACAAGCACCCACCCTCACTTTATGGAAAGCATCCAGTGGGGAGACTCATGAACATCAGTCATTCTGAGGCCACATCCTTCTACTAAACTAATCATTCCGCAGACTTGGATGCACCCCGCTTCCACATGGACTTTACCATCCACAACTTACCAGCAAGAATTTGGAAGATTCCAGTGATGTAAAACCTGCCCCCCTTGGTGAGGGTGAAGAGTTGGCAGAAGAACAGGAACAGACACAGAATGCTGAAGATGATCGACAGGATCATGGTGGCCTGGACAGACTGCAGCCATTCTGGGGGAAAGAGACACTTGGTTAGGAGAGCTGGCCATGGCCGGGGGAGGGCTCTGCCTCGAGGTGCAGGGCCTGAAGGGCCATGACTGCTGACAGCACAGTCCTCACAGGCAGCAGAAGCAGAAGTCCTTTTTCCTTAGCAGAACTCAGACAATTCACTTTTGCAATCTAAGAAGACATTCTTTATTGTTTATTTTGGAGGAAAAAATATATACATATATACATACATCTATATGTACTGATATATACATATACAAACACACACATGTGCCAATATGTACACATTACATACATATATACCTATATGTACAAATATGCATACAAATATGTACGTGTTTCTATATATATGTGTATATACACATATACAAATACGTGACACACACATATATATAAAAAACACATGTGAACATTCAGGGAAGGGCTGTAAAAAAATATCTATAGTTCCATCACTAGGAGTTAAAGTCATTTTAAAATATATTGAATTTCCTTCCAGTGTTGGTGCAAATGTGTTACTTATGTACATGTGTCTGTGTTAAAGAGGGCCTGAGCCCTGCCTACTACCTTCCCTCTTCTTGCCCTCAGGGGTCTTTGAAGGGCTTATCAGAACTTCTGTATTCCAAGAAAAATAGCTTAAAACCACTATTCAAATTATCTGCATTCCCCAAGGAGAGGTAAAGATCACGGGAATGGCTGTTAGAGCCCAAAGTAATTTTTTGGAAGAATGGAAGAAAATACTGATGAAGAAAGGTATGCTCTCTATAGGTATGGAAATCAATTTGCTTGGACAACCCGTATTTTTTTTTTTTTTTTTTTTTGGTCAACTCTGATCATGGCCATTAGCCTCAGCACAGAGCGGTGTGTGATCGCCAACCACCAGACGGGATGAAGGCTTACACTTCCTTATCTCTGTTGAACCCCAAATCTCCAAGCTTCCAACTGAAATTCAGGCAAGAAGACAGAGCCTCCTATGGTTTCTTCAGTTCACCATCCGCTGCAAACTCATGTCATTTCAGGGAGGAAAGAAGAAACAACCTGAGTTCCACACTGTAGAGGGAAGCCCAGGGTAAAAATCTGCATTTGGCCTCTGTCTTGTCTTCCAAGTGCCACAGAATGCTGGGGGCAGGCACTGCTCTCATGGAGGAAGGGCAACTGGGGAAGCTGCAGCATTTAATCCTTTCAGCTCAGTAACTGCCATATGTAATGGCTTCAAAAGCATACCTTCAATGCTTCACCCAGTACTCACAGCTCTGAAATCTGGATGGTTTATAATTAGTAACTGAGTAAGATAAACTTGTTTTGAGTTGTAAGCAGCTCATGGCAGAATTTTAAGGGTGCAAATTAGGTTAACTGTTCCTAGATTTTCACCTAAGATGTTTCCAAGGCACAGACTGGAGATATTTTAGAGTTGGAAGAAACCTGAGAGATCAACTAGTCCAGCTCCTTTGCACTGAAAGAGATTTCCAGAGGTGTTTTCATGAGCCCAAATGACACAGCCAAATCTAAGAGGCCTTTGATTCTAGTCTAGCACTCTTCACATTCAAGCACAACATATGCTTCTTTCATTTTTTCAATTTCTTTGTCAATTAAAGTAAGAAAATGACGGCTAATGGGTTGTGAGCCATCCTGATTTCACTCTTACATAACCTTAATCAAATGTTTGTCTTTATCCAGCATAGAGGTTCTTCTGGAGGAGCACTTTGCAATAAAGATAATGTTCTCATAATATTGTTTGCTTAAAATAAAAAAATTATCTAGCACTTTGGTAGATGCAGCTGGAATTACAAAGAAATCTGAGACTCAAATCTGAAACTAAAACAAATAAAGGGATTCACTTTGGCTGGGAAATGTCCTTCCATGTGCATGTTCATGAGGAGTATGGCTGGTGGAGACAATATCTTAGATTTCCTTCTCCAATCCTGAGATACTGTCTTCACCCTTAACCCCGCGCCCCTGTCATTTTCAGCAGAAACTACTACGAGACCTCACATAC 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Task1_train_23828 | This variant lies on Chromosome 17 and affects the gene PMP22 (peripheral myelin protein 22). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Inborn genetic diseases | CATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAACCCAATCATCGCTTATGAAACTAACATTTCAATAGAAATACATTATGAAAGTTCTGGTTCTAAATCCATATTATCTTGAGGGCATATCCACTGATGCAATGGATATGATCATTATTTGATTTGATATCAAACTAAAACGAGTGAGAAAAAAAAAAAGAAACCCCAGAATATGTTACAGTTGTTTTTATTCCAACTGAAAATTGAGTAAGGGTAACTCTTCACTTTAACGTACCTAGAAATGATATCTCCTTGCATAATTAGTCATTTAACAGAGCCAGCAACCATCCAGGAGCTTGGCTTGGTGTCATAAGACATGTGTAAGTAGCAAAGCACTGTCTGGTTTTGAAATCTCAAAACCATGAGTATTGAAATGTTGTATTTGAGTGTTTAATGAGAAGTGGTTAATCATTTACTTCCTTTTTTCAGGAAAGGGGAACTCTCTGTCTTCTAGACAAGGTCACCAACATCTAACCTTGGGCTGTGTCTTCCCATACAACCCTATTTACGTCAACCTTCCAATGACTGCTCCTGGGGACAGAGTGGTGAAATGGTACCATGGGCATTCTGACAACCAACTCAGAGAAGAGATGCTACATCCTTTGCCCTCTCAGAGGGTCAGAATTGAGAACATCTCCCAGTACCTAGACATACTCTGGTACATATGAAGTTTGTGATCTATGAATTTGGACCACAGAATCCACCACTACATCTAGCTCTTACTTCTCTCCAATGCCCTGCTGGTTCAGTCAACAGTAAGTCAACAGACAGACATGTAAGAGCTAATGTAAGATGCTAGGCAGAATGCAAGATGTAAGATGTAAGATGTAAGATGTAAGCATGTAAGATGCTAGGCAGAATCCAGAGACAAAGTTGGAAGATGTCACCCTGTGTAACAGAAGTTTCTAGGACTCTGCACACTATGCATATTAATAACGTATTTAAAGAGGGAACTTGAAGACAGTTTAGGCAGGAGATTAAGGAGACCTCTCATGTGTTTTCATGTGTTGTCATAGCCCCATGTTTGGAAATGACAATATGTGACACAAGAGTGTCAAAATGAAGACACCAGAGGATGACAACAGTCAATCAAAGCCCAGTAGAATCTAGGAACTGGAAGCAAGGAAGGTGAGAATTTGTCAGTGTGGCTTCATCACTACCTATTGGTGGAAGACACATACCTGATAACTACTTTGCTAGTTCTTAGCACATCAGGGCCATTTTCTGGAGGCATAATGTAATCTACAGAAACAGCTCTCAAGCCTGACCTTTGCTCTACAGATAGCCTCAGTATTCACCTCTGATTATGTGTCCAGATTGCAGTTTCATTCCTGTTGATACGCCTGGCTTGGGTGGGGACCTTCCTTCCAGATCCTCTAAGTTCTCTTTCATATGCATCTCATTCCAGGGAGAAGGGGAGAGTTCTAAGTCCCAAGTTCTAAGACACATACAGGTACACACCCACACATACAAGCACCCACCCTCACTTTATGGAAAGCATCCAGTGGGGAGACTCATGAACATCAGTCATTCTGAGGCCACATCCTTCTACTAAACTAATCATTCCGCAGACTTGGATGCACCCCGCTTCCACATGGACTTTACCATCCACAACTTACCAGCAAGAATTTGGAAGATTCCAGTGATGTAAAACCTGCCCCCCTTGGTGAGGGTGAAGAGTTGGCAGAAGAACAGGAACAGAGACAGAATGCTGAAGATGATCGACAGGATCATGGTGGCCTGGACAGACTGCAGCCATTCTGGGGGAAAGAGACACTTGGTTAGGAGAGCTGGCCATGGCCGGGGGAGGGCTCTGCCTCGAGGTGCAGGGCCTGAAGGGCCATGACTGCTGACAGCACAGTCCTCACAGGCAGCAGAAGCAGAAGTCCTTTTTCCTTAGCAGAACTCAGACAATTCACTTTTGCAATCTAAGAAGACATTCTTTATTGTTTATTTTGGAGGAAAAAATATATACATATATACATACATCTATATGTACTGATATATACATATACAAACACACACATGTGCCAATATGTACACATTACATACATATATACCTATATGTACAAATATGCATACAAATATGTACGTGTTTCTATATATATGTGTATATACACATATACAAATACGTGACACACACATATATATAAAAAACACATGTGAACATTCAGGGAAGGGCTGTAAAAAAATATCTATAGTTCCATCACTAGGAGTTAAAGTCATTTTAAAATATATTGAATTTCCTTCCAGTGTTGGTGCAAATGTGTTACTTATGTACATGTGTCTGTGTTAAAGAGGGCCTGAGCCCTGCCTACTACCTTCCCTCTTCTTGCCCTCAGGGGTCTTTGAAGGGCTTATCAGAACTTCTGTATTCCAAGAAAAATAGCTTAAAACCACTATTCAAATTATCTGCATTCCCCAAGGAGAGGTAAAGATCACGGGAATGGCTGTTAGAGCCCAAAGTAATTTTTTGGAAGAATGGAAGAAAATACTGATGAAGAAAGGTATGCTCTCTATAGGTATGGAAATCAATTTGCTTGGACAACCCGTATTTTTTTTTTTTTTTTTTTTTGGTCAACTCTGATCATGGCCATTAGCCTCAGCACAGAGCGGTGTGTGATCGCCAACCACCAGACGGGATGAAGGCTTACACTTCCTTATCTCTGTTGAACCCCAAATCTCCAAGCTTCCAACTGAAATTCAGGCAAGAAGACAGAGCCTCCTATGGTTTCTTCAGTTCACCATCCGCTGCAAACTCATGTCATTTCAGGGAGGAAAGAAGAAACAACCTGAGTTCCACACTGTAGAGGGAAGCCCAGGGTAAAAATCTGCATTTGGCCTCTGTCTTGTCTTCCAAGTGCCACAGAATGCTGGGGGCAGGCACTGCTCTCATGGAGGAAGGGCAACTGGGGAAGCTGCAGCATTTAATCCTTTCAGCTCAGTAACTGCCATATGTAATGGCTTCAAAAGCATACCTTCAATGCTTCACCCAGTACTCACAGCTCTGAAATCTGGATGGTTTATAATTAGTAACTGAGTAAGATAAACTTGTTTTGAGTTGTAAGCAGCTCATGGCAGAATTTTAAGGGTGCAAATTAGGTTAACTGTTCCTAGATTTTCACCTAAGATGTTTCCAAGGCACAGACTGGAGATATTTTAGAGTTGGAAGAAACCTGAGAGATCAACTAGTCCAGCTCCTTTGCACTGAAAGAGATTTCCAGAGGTGTTTTCATGAGCCCAAATGACACAGCCAAATCTAAGAGGCCTTTGATTCTAGTCTAGCACTCTTCACATTCAAGCACAACATATGCTTCTTTCATTTTTTCAATTTCTTTGTCAATTAAAGTAAGAAAATGACGGCTAATGGGTTGTGAGCCATCCTGATTTCACTCTTACATAACCTTAATCAAATGTTTGTCTTTATCCAGCATAGAGGTTCTTCTGGAGGAGCACTTTGCAATAAAGATAATGTTCTCATAATATTGTTTGCTTAAAATAAAAAAATTATCTAGCACTTTGGTAGATGCAGCTGGAATTACAAAGAAATCTGAGACTCAAATCTGAAACTAAAACAAATAAAGGGATTCACTTTGGCTGGGAAATGTCCTTCCATGTGCATGTTCATGAGGAGTATGGCTGGTGGAGACAATATCTTAGATTTCCTTCTCCAATCCTGAGATACTGTCTTCACCCTTAACCCCGCGCCCCTGTCATTTTCAGCAGAAACTACTACGAGACCTCACATACACAGAAAACTTAAAATCTTTA 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CATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAACCCAATCATCGCTTATGAAACTAACATTTCAATAGAAATACATTATGAAAGTTCTGGTTCTAAATCCATATTATCTTGAGGGCATATCCACTGATGCAATGGATATGATCATTATTTGATTTGATATCAAACTAAAACGAGTGAGAAAAAAAAAAAGAAACCCCAGAATATGTTACAGTTGTTTTTATTCCAACTGAAAATTGAGTAAGGGTAACTCTTCACTTTAACGTACCTAGAAATGATATCTCCTTGCATAATTAGTCATTTAACAGAGCCAGCAACCATCCAGGAGCTTGGCTTGGTGTCATAAGACATGTGTAAGTAGCAAAGCACTGTCTGGTTTTGAAATCTCAAAACCATGAGTATTGAAATGTTGTATTTGAGTGTTTAATGAGAAGTGGTTAATCATTTACTTCCTTTTTTCAGGAAAGGGGAACTCTCTGTCTTCTAGACAAGGTCACCAACATCTAACCTTGGGCTGTGTCTTCCCATACAACCCTATTTACGTCAACCTTCCAATGACTGCTCCTGGGGACAGAGTGGTGAAATGGTACCATGGGCATTCTGACAACCAACTCAGAGAAGAGATGCTACATCCTTTGCCCTCTCAGAGGGTCAGAATTGAGAACATCTCCCAGTACCTAGACATACTCTGGTACATATGAAGTTTGTGATCTATGAATTTGGACCACAGAATCCACCACTACATCTAGCTCTTACTTCTCTCCAATGCCCTGCTGGTTCAGTCAACAGTAAGTCAACAGACAGACATGTAAGAGCTAATGTAAGATGCTAGGCAGAATGCAAGATGTAAGATGTAAGATGTAAGATGTAAGCATGTAAGATGCTAGGCAGAATCCAGAGACAAAGTTGGAAGATGTCACCCTGTGTAACAGAAGTTTCTAGGACTCTGCACACTATGCATATTAATAACGTATTTAAAGAGGGAACTTGAAGACAGTTTAGGCAGGAGATTAAGGAGACCTCTCATGTGTTTTCATGTGTTGTCATAGCCCCATGTTTGGAAATGACAATATGTGACACAAGAGTGTCAAAATGAAGACACCAGAGGATGACAACAGTCAATCAAAGCCCAGTAGAATCTAGGAACTGGAAGCAAGGAAGGTGAGAATTTGTCAGTGTGGCTTCATCACTACCTATTGGTGGAAGACACATACCTGATAACTACTTTGCTAGTTCTTAGCACATCAGGGCCATTTTCTGGAGGCATAATGTAATCTACAGAAACAGCTCTCAAGCCTGACCTTTGCTCTACAGATAGCCTCAGTATTCACCTCTGATTATGTGTCCAGATTGCAGTTTCATTCCTGTTGATACGCCTGGCTTGGGTGGGGACCTTCCTTCCAGATCCTCTAAGTTCTCTTTCATATGCATCTCATTCCAGGGAGAAGGGGAGAGTTCTAAGTCCCAAGTTCTAAGACACATACAGGTACACACCCACACATACAAGCACCCACCCTCACTTTATGGAAAGCATCCAGTGGGGAGACTCATGAACATCAGTCATTCTGAGGCCACATCCTTCTACTAAACTAATCATTCCGCAGACTTGGATGCACCCCGCTTCCACATGGACTTTACCATCCACAACTTACCAGCAAGAATTTGGAAGATTCCAGTGATGTAAAACCTGCCCCCCTTGGTGAGGGTGAAGAGTTGGCAGAAGAACAGGAACAGAGACAGAATGCTGAAGATGATCAACAGGATCATGGTGGCCTGGACAGACTGCAGCCATTCTGGGGGAAAGAGACACTTGGTTAGGAGAGCTGGCCATGGCCGGGGGAGGGCTCTGCCTCGAGGTGCAGGGCCTGAAGGGCCATGACTGCTGACAGCACAGTCCTCACAGGCAGCAGAAGCAGAAGTCCTTTTTCCTTAGCAGAACTCAGACAATTCACTTTTGCAATCTAAGAAGACATTCTTTATTGTTTATTTTGGAGGAAAAAATATATACATATATACATACATCTATATGTACTGATATATACATATACAAACACACACATGTGCCAATATGTACACATTACATACATATATACCTATATGTACAAATATGCATACAAATATGTACGTGTTTCTATATATATGTGTATATACACATATACAAATACGTGACACACACATATATATAAAAAACACATGTGAACATTCAGGGAAGGGCTGTAAAAAAATATCTATAGTTCCATCACTAGGAGTTAAAGTCATTTTAAAATATATTGAATTTCCTTCCAGTGTTGGTGCAAATGTGTTACTTATGTACATGTGTCTGTGTTAAAGAGGGCCTGAGCCCTGCCTACTACCTTCCCTCTTCTTGCCCTCAGGGGTCTTTGAAGGGCTTATCAGAACTTCTGTATTCCAAGAAAAATAGCTTAAAACCACTATTCAAATTATCTGCATTCCCCAAGGAGAGGTAAAGATCACGGGAATGGCTGTTAGAGCCCAAAGTAATTTTTTGGAAGAATGGAAGAAAATACTGATGAAGAAAGGTATGCTCTCTATAGGTATGGAAATCAATTTGCTTGGACAACCCGTATTTTTTTTTTTTTTTTTTTTTGGTCAACTCTGATCATGGCCATTAGCCTCAGCACAGAGCGGTGTGTGATCGCCAACCACCAGACGGGATGAAGGCTTACACTTCCTTATCTCTGTTGAACCCCAAATCTCCAAGCTTCCAACTGAAATTCAGGCAAGAAGACAGAGCCTCCTATGGTTTCTTCAGTTCACCATCCGCTGCAAACTCATGTCATTTCAGGGAGGAAAGAAGAAACAACCTGAGTTCCACACTGTAGAGGGAAGCCCAGGGTAAAAATCTGCATTTGGCCTCTGTCTTGTCTTCCAAGTGCCACAGAATGCTGGGGGCAGGCACTGCTCTCATGGAGGAAGGGCAACTGGGGAAGCTGCAGCATTTAATCCTTTCAGCTCAGTAACTGCCATATGTAATGGCTTCAAAAGCATACCTTCAATGCTTCACCCAGTACTCACAGCTCTGAAATCTGGATGGTTTATAATTAGTAACTGAGTAAGATAAACTTGTTTTGAGTTGTAAGCAGCTCATGGCAGAATTTTAAGGGTGCAAATTAGGTTAACTGTTCCTAGATTTTCACCTAAGATGTTTCCAAGGCACAGACTGGAGATATTTTAGAGTTGGAAGAAACCTGAGAGATCAACTAGTCCAGCTCCTTTGCACTGAAAGAGATTTCCAGAGGTGTTTTCATGAGCCCAAATGACACAGCCAAATCTAAGAGGCCTTTGATTCTAGTCTAGCACTCTTCACATTCAAGCACAACATATGCTTCTTTCATTTTTTCAATTTCTTTGTCAATTAAAGTAAGAAAATGACGGCTAATGGGTTGTGAGCCATCCTGATTTCACTCTTACATAACCTTAATCAAATGTTTGTCTTTATCCAGCATAGAGGTTCTTCTGGAGGAGCACTTTGCAATAAAGATAATGTTCTCATAATATTGTTTGCTTAAAATAAAAAAATTATCTAGCACTTTGGTAGATGCAGCTGGAATTACAAAGAAATCTGAGACTCAAATCTGAAACTAAAACAAATAAAGGGATTCACTTTGGCTGGGAAATGTCCTTCCATGTGCATGTTCATGAGGAGTATGGCTGGTGGAGACAATATCTTAGATTTCCTTCTCCAATCCTGAGATACTGTCTTCACCCTTAACCCCGCGCCCCTGTCATTTTCAGCAGAAACTACTACGAGACCTCACATACACAGAAAACTTAAAATCTTTA 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Task1_train_23829 | This alteration in PMP22 (peripheral myelin protein 22) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Charcot-Marie-Tooth disease, type IA | CATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAACCCAATCATCGCTTATGAAACTAACATTTCAATAGAAATACATTATGAAAGTTCTGGTTCTAAATCCATATTATCTTGAGGGCATATCCACTGATGCAATGGATATGATCATTATTTGATTTGATATCAAACTAAAACGAGTGAGAAAAAAAAAAAGAAACCCCAGAATATGTTACAGTTGTTTTTATTCCAACTGAAAATTGAGTAAGGGTAACTCTTCACTTTAACGTACCTAGAAATGATATCTCCTTGCATAATTAGTCATTTAACAGAGCCAGCAACCATCCAGGAGCTTGGCTTGGTGTCATAAGACATGTGTAAGTAGCAAAGCACTGTCTGGTTTTGAAATCTCAAAACCATGAGTATTGAAATGTTGTATTTGAGTGTTTAATGAGAAGTGGTTAATCATTTACTTCCTTTTTTCAGGAAAGGGGAACTCTCTGTCTTCTAGACAAGGTCACCAACATCTAACCTTGGGCTGTGTCTTCCCATACAACCCTATTTACGTCAACCTTCCAATGACTGCTCCTGGGGACAGAGTGGTGAAATGGTACCATGGGCATTCTGACAACCAACTCAGAGAAGAGATGCTACATCCTTTGCCCTCTCAGAGGGTCAGAATTGAGAACATCTCCCAGTACCTAGACATACTCTGGTACATATGAAGTTTGTGATCTATGAATTTGGACCACAGAATCCACCACTACATCTAGCTCTTACTTCTCTCCAATGCCCTGCTGGTTCAGTCAACAGTAAGTCAACAGACAGACATGTAAGAGCTAATGTAAGATGCTAGGCAGAATGCAAGATGTAAGATGTAAGATGTAAGATGTAAGCATGTAAGATGCTAGGCAGAATCCAGAGACAAAGTTGGAAGATGTCACCCTGTGTAACAGAAGTTTCTAGGACTCTGCACACTATGCATATTAATAACGTATTTAAAGAGGGAACTTGAAGACAGTTTAGGCAGGAGATTAAGGAGACCTCTCATGTGTTTTCATGTGTTGTCATAGCCCCATGTTTGGAAATGACAATATGTGACACAAGAGTGTCAAAATGAAGACACCAGAGGATGACAACAGTCAATCAAAGCCCAGTAGAATCTAGGAACTGGAAGCAAGGAAGGTGAGAATTTGTCAGTGTGGCTTCATCACTACCTATTGGTGGAAGACACATACCTGATAACTACTTTGCTAGTTCTTAGCACATCAGGGCCATTTTCTGGAGGCATAATGTAATCTACAGAAACAGCTCTCAAGCCTGACCTTTGCTCTACAGATAGCCTCAGTATTCACCTCTGATTATGTGTCCAGATTGCAGTTTCATTCCTGTTGATACGCCTGGCTTGGGTGGGGACCTTCCTTCCAGATCCTCTAAGTTCTCTTTCATATGCATCTCATTCCAGGGAGAAGGGGAGAGTTCTAAGTCCCAAGTTCTAAGACACATACAGGTACACACCCACACATACAAGCACCCACCCTCACTTTATGGAAAGCATCCAGTGGGGAGACTCATGAACATCAGTCATTCTGAGGCCACATCCTTCTACTAAACTAATCATTCCGCAGACTTGGATGCACCCCGCTTCCACATGGACTTTACCATCCACAACTTACCAGCAAGAATTTGGAAGATTCCAGTGATGTAAAACCTGCCCCCCTTGGTGAGGGTGAAGAGTTGGCAGAAGAACAGGAACAGAGACAGAATGCTGAAGATGATCGACAGGATCATGGTGGCCTGGACAGACTGCAGCCATTCTGGGGGAAAGAGACACTTGGTTAGGAGAGCTGGCCATGGCCGGGGGAGGGCTCTGCCTCGAGGTGCAGGGCCTGAAGGGCCATGACTGCTGACAGCACAGTCCTCACAGGCAGCAGAAGCAGAAGTCCTTTTTCCTTAGCAGAACTCAGACAATTCACTTTTGCAATCTAAGAAGACATTCTTTATTGTTTATTTTGGAGGAAAAAATATATACATATATACATACATCTATATGTACTGATATATACATATACAAACACACACATGTGCCAATATGTACACATTACATACATATATACCTATATGTACAAATATGCATACAAATATGTACGTGTTTCTATATATATGTGTATATACACATATACAAATACGTGACACACACATATATATAAAAAACACATGTGAACATTCAGGGAAGGGCTGTAAAAAAATATCTATAGTTCCATCACTAGGAGTTAAAGTCATTTTAAAATATATTGAATTTCCTTCCAGTGTTGGTGCAAATGTGTTACTTATGTACATGTGTCTGTGTTAAAGAGGGCCTGAGCCCTGCCTACTACCTTCCCTCTTCTTGCCCTCAGGGGTCTTTGAAGGGCTTATCAGAACTTCTGTATTCCAAGAAAAATAGCTTAAAACCACTATTCAAATTATCTGCATTCCCCAAGGAGAGGTAAAGATCACGGGAATGGCTGTTAGAGCCCAAAGTAATTTTTTGGAAGAATGGAAGAAAATACTGATGAAGAAAGGTATGCTCTCTATAGGTATGGAAATCAATTTGCTTGGACAACCCGTATTTTTTTTTTTTTTTTTTTTTGGTCAACTCTGATCATGGCCATTAGCCTCAGCACAGAGCGGTGTGTGATCGCCAACCACCAGACGGGATGAAGGCTTACACTTCCTTATCTCTGTTGAACCCCAAATCTCCAAGCTTCCAACTGAAATTCAGGCAAGAAGACAGAGCCTCCTATGGTTTCTTCAGTTCACCATCCGCTGCAAACTCATGTCATTTCAGGGAGGAAAGAAGAAACAACCTGAGTTCCACACTGTAGAGGGAAGCCCAGGGTAAAAATCTGCATTTGGCCTCTGTCTTGTCTTCCAAGTGCCACAGAATGCTGGGGGCAGGCACTGCTCTCATGGAGGAAGGGCAACTGGGGAAGCTGCAGCATTTAATCCTTTCAGCTCAGTAACTGCCATATGTAATGGCTTCAAAAGCATACCTTCAATGCTTCACCCAGTACTCACAGCTCTGAAATCTGGATGGTTTATAATTAGTAACTGAGTAAGATAAACTTGTTTTGAGTTGTAAGCAGCTCATGGCAGAATTTTAAGGGTGCAAATTAGGTTAACTGTTCCTAGATTTTCACCTAAGATGTTTCCAAGGCACAGACTGGAGATATTTTAGAGTTGGAAGAAACCTGAGAGATCAACTAGTCCAGCTCCTTTGCACTGAAAGAGATTTCCAGAGGTGTTTTCATGAGCCCAAATGACACAGCCAAATCTAAGAGGCCTTTGATTCTAGTCTAGCACTCTTCACATTCAAGCACAACATATGCTTCTTTCATTTTTTCAATTTCTTTGTCAATTAAAGTAAGAAAATGACGGCTAATGGGTTGTGAGCCATCCTGATTTCACTCTTACATAACCTTAATCAAATGTTTGTCTTTATCCAGCATAGAGGTTCTTCTGGAGGAGCACTTTGCAATAAAGATAATGTTCTCATAATATTGTTTGCTTAAAATAAAAAAATTATCTAGCACTTTGGTAGATGCAGCTGGAATTACAAAGAAATCTGAGACTCAAATCTGAAACTAAAACAAATAAAGGGATTCACTTTGGCTGGGAAATGTCCTTCCATGTGCATGTTCATGAGGAGTATGGCTGGTGGAGACAATATCTTAGATTTCCTTCTCCAATCCTGAGATACTGTCTTCACCCTTAACCCCGCGCCCCTGTCATTTTCAGCAGAAACTACTACGAGACCTCACATACACAGAAAACTTAAAATCTTTA 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CATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAACCCAATCATCGCTTATGAAACTAACATTTCAATAGAAATACATTATGAAAGTTCTGGTTCTAAATCCATATTATCTTGAGGGCATATCCACTGATGCAATGGATATGATCATTATTTGATTTGATATCAAACTAAAACGAGTGAGAAAAAAAAAAAGAAACCCCAGAATATGTTACAGTTGTTTTTATTCCAACTGAAAATTGAGTAAGGGTAACTCTTCACTTTAACGTACCTAGAAATGATATCTCCTTGCATAATTAGTCATTTAACAGAGCCAGCAACCATCCAGGAGCTTGGCTTGGTGTCATAAGACATGTGTAAGTAGCAAAGCACTGTCTGGTTTTGAAATCTCAAAACCATGAGTATTGAAATGTTGTATTTGAGTGTTTAATGAGAAGTGGTTAATCATTTACTTCCTTTTTTCAGGAAAGGGGAACTCTCTGTCTTCTAGACAAGGTCACCAACATCTAACCTTGGGCTGTGTCTTCCCATACAACCCTATTTACGTCAACCTTCCAATGACTGCTCCTGGGGACAGAGTGGTGAAATGGTACCATGGGCATTCTGACAACCAACTCAGAGAAGAGATGCTACATCCTTTGCCCTCTCAGAGGGTCAGAATTGAGAACATCTCCCAGTACCTAGACATACTCTGGTACATATGAAGTTTGTGATCTATGAATTTGGACCACAGAATCCACCACTACATCTAGCTCTTACTTCTCTCCAATGCCCTGCTGGTTCAGTCAACAGTAAGTCAACAGACAGACATGTAAGAGCTAATGTAAGATGCTAGGCAGAATGCAAGATGTAAGATGTAAGATGTAAGATGTAAGCATGTAAGATGCTAGGCAGAATCCAGAGACAAAGTTGGAAGATGTCACCCTGTGTAACAGAAGTTTCTAGGACTCTGCACACTATGCATATTAATAACGTATTTAAAGAGGGAACTTGAAGACAGTTTAGGCAGGAGATTAAGGAGACCTCTCATGTGTTTTCATGTGTTGTCATAGCCCCATGTTTGGAAATGACAATATGTGACACAAGAGTGTCAAAATGAAGACACCAGAGGATGACAACAGTCAATCAAAGCCCAGTAGAATCTAGGAACTGGAAGCAAGGAAGGTGAGAATTTGTCAGTGTGGCTTCATCACTACCTATTGGTGGAAGACACATACCTGATAACTACTTTGCTAGTTCTTAGCACATCAGGGCCATTTTCTGGAGGCATAATGTAATCTACAGAAACAGCTCTCAAGCCTGACCTTTGCTCTACAGATAGCCTCAGTATTCACCTCTGATTATGTGTCCAGATTGCAGTTTCATTCCTGTTGATACGCCTGGCTTGGGTGGGGACCTTCCTTCCAGATCCTCTAAGTTCTCTTTCATATGCATCTCATTCCAGGGAGAAGGGGAGAGTTCTAAGTCCCAAGTTCTAAGACACATACAGGTACACACCCACACATACAAGCACCCACCCTCACTTTATGGAAAGCATCCAGTGGGGAGACTCATGAACATCAGTCATTCTGAGGCCACATCCTTCTACTAAACTAATCATTCCGCAGACTTGGATGCACCCCGCTTCCACATGGACTTTACCATCCACAACTTACCAGCAAGAATTTGGAAGATTCCAGTGATGTAAAACCTGCCCCCCTTGGTGAGGGTGAAGAGTTGGCAGAAGAACAGGAACAGAGACAGAATGCTGAAGATGATCAACAGGATCATGGTGGCCTGGACAGACTGCAGCCATTCTGGGGGAAAGAGACACTTGGTTAGGAGAGCTGGCCATGGCCGGGGGAGGGCTCTGCCTCGAGGTGCAGGGCCTGAAGGGCCATGACTGCTGACAGCACAGTCCTCACAGGCAGCAGAAGCAGAAGTCCTTTTTCCTTAGCAGAACTCAGACAATTCACTTTTGCAATCTAAGAAGACATTCTTTATTGTTTATTTTGGAGGAAAAAATATATACATATATACATACATCTATATGTACTGATATATACATATACAAACACACACATGTGCCAATATGTACACATTACATACATATATACCTATATGTACAAATATGCATACAAATATGTACGTGTTTCTATATATATGTGTATATACACATATACAAATACGTGACACACACATATATATAAAAAACACATGTGAACATTCAGGGAAGGGCTGTAAAAAAATATCTATAGTTCCATCACTAGGAGTTAAAGTCATTTTAAAATATATTGAATTTCCTTCCAGTGTTGGTGCAAATGTGTTACTTATGTACATGTGTCTGTGTTAAAGAGGGCCTGAGCCCTGCCTACTACCTTCCCTCTTCTTGCCCTCAGGGGTCTTTGAAGGGCTTATCAGAACTTCTGTATTCCAAGAAAAATAGCTTAAAACCACTATTCAAATTATCTGCATTCCCCAAGGAGAGGTAAAGATCACGGGAATGGCTGTTAGAGCCCAAAGTAATTTTTTGGAAGAATGGAAGAAAATACTGATGAAGAAAGGTATGCTCTCTATAGGTATGGAAATCAATTTGCTTGGACAACCCGTATTTTTTTTTTTTTTTTTTTTTGGTCAACTCTGATCATGGCCATTAGCCTCAGCACAGAGCGGTGTGTGATCGCCAACCACCAGACGGGATGAAGGCTTACACTTCCTTATCTCTGTTGAACCCCAAATCTCCAAGCTTCCAACTGAAATTCAGGCAAGAAGACAGAGCCTCCTATGGTTTCTTCAGTTCACCATCCGCTGCAAACTCATGTCATTTCAGGGAGGAAAGAAGAAACAACCTGAGTTCCACACTGTAGAGGGAAGCCCAGGGTAAAAATCTGCATTTGGCCTCTGTCTTGTCTTCCAAGTGCCACAGAATGCTGGGGGCAGGCACTGCTCTCATGGAGGAAGGGCAACTGGGGAAGCTGCAGCATTTAATCCTTTCAGCTCAGTAACTGCCATATGTAATGGCTTCAAAAGCATACCTTCAATGCTTCACCCAGTACTCACAGCTCTGAAATCTGGATGGTTTATAATTAGTAACTGAGTAAGATAAACTTGTTTTGAGTTGTAAGCAGCTCATGGCAGAATTTTAAGGGTGCAAATTAGGTTAACTGTTCCTAGATTTTCACCTAAGATGTTTCCAAGGCACAGACTGGAGATATTTTAGAGTTGGAAGAAACCTGAGAGATCAACTAGTCCAGCTCCTTTGCACTGAAAGAGATTTCCAGAGGTGTTTTCATGAGCCCAAATGACACAGCCAAATCTAAGAGGCCTTTGATTCTAGTCTAGCACTCTTCACATTCAAGCACAACATATGCTTCTTTCATTTTTTCAATTTCTTTGTCAATTAAAGTAAGAAAATGACGGCTAATGGGTTGTGAGCCATCCTGATTTCACTCTTACATAACCTTAATCAAATGTTTGTCTTTATCCAGCATAGAGGTTCTTCTGGAGGAGCACTTTGCAATAAAGATAATGTTCTCATAATATTGTTTGCTTAAAATAAAAAAATTATCTAGCACTTTGGTAGATGCAGCTGGAATTACAAAGAAATCTGAGACTCAAATCTGAAACTAAAACAAATAAAGGGATTCACTTTGGCTGGGAAATGTCCTTCCATGTGCATGTTCATGAGGAGTATGGCTGGTGGAGACAATATCTTAGATTTCCTTCTCCAATCCTGAGATACTGTCTTCACCCTTAACCCCGCGCCCCTGTCATTTTCAGCAGAAACTACTACGAGACCTCACATACACAGAAAACTTAAAATCTTTA 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Task1_train_23830 | This variant affects the gene PMP22 (peripheral myelin protein 22) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Charcot-Marie-Tooth disease, type I | CATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAACCCAATCATCGCTTATGAAACTAACATTTCAATAGAAATACATTATGAAAGTTCTGGTTCTAAATCCATATTATCTTGAGGGCATATCCACTGATGCAATGGATATGATCATTATTTGATTTGATATCAAACTAAAACGAGTGAGAAAAAAAAAAAGAAACCCCAGAATATGTTACAGTTGTTTTTATTCCAACTGAAAATTGAGTAAGGGTAACTCTTCACTTTAACGTACCTAGAAATGATATCTCCTTGCATAATTAGTCATTTAACAGAGCCAGCAACCATCCAGGAGCTTGGCTTGGTGTCATAAGACATGTGTAAGTAGCAAAGCACTGTCTGGTTTTGAAATCTCAAAACCATGAGTATTGAAATGTTGTATTTGAGTGTTTAATGAGAAGTGGTTAATCATTTACTTCCTTTTTTCAGGAAAGGGGAACTCTCTGTCTTCTAGACAAGGTCACCAACATCTAACCTTGGGCTGTGTCTTCCCATACAACCCTATTTACGTCAACCTTCCAATGACTGCTCCTGGGGACAGAGTGGTGAAATGGTACCATGGGCATTCTGACAACCAACTCAGAGAAGAGATGCTACATCCTTTGCCCTCTCAGAGGGTCAGAATTGAGAACATCTCCCAGTACCTAGACATACTCTGGTACATATGAAGTTTGTGATCTATGAATTTGGACCACAGAATCCACCACTACATCTAGCTCTTACTTCTCTCCAATGCCCTGCTGGTTCAGTCAACAGTAAGTCAACAGACAGACATGTAAGAGCTAATGTAAGATGCTAGGCAGAATGCAAGATGTAAGATGTAAGATGTAAGATGTAAGCATGTAAGATGCTAGGCAGAATCCAGAGACAAAGTTGGAAGATGTCACCCTGTGTAACAGAAGTTTCTAGGACTCTGCACACTATGCATATTAATAACGTATTTAAAGAGGGAACTTGAAGACAGTTTAGGCAGGAGATTAAGGAGACCTCTCATGTGTTTTCATGTGTTGTCATAGCCCCATGTTTGGAAATGACAATATGTGACACAAGAGTGTCAAAATGAAGACACCAGAGGATGACAACAGTCAATCAAAGCCCAGTAGAATCTAGGAACTGGAAGCAAGGAAGGTGAGAATTTGTCAGTGTGGCTTCATCACTACCTATTGGTGGAAGACACATACCTGATAACTACTTTGCTAGTTCTTAGCACATCAGGGCCATTTTCTGGAGGCATAATGTAATCTACAGAAACAGCTCTCAAGCCTGACCTTTGCTCTACAGATAGCCTCAGTATTCACCTCTGATTATGTGTCCAGATTGCAGTTTCATTCCTGTTGATACGCCTGGCTTGGGTGGGGACCTTCCTTCCAGATCCTCTAAGTTCTCTTTCATATGCATCTCATTCCAGGGAGAAGGGGAGAGTTCTAAGTCCCAAGTTCTAAGACACATACAGGTACACACCCACACATACAAGCACCCACCCTCACTTTATGGAAAGCATCCAGTGGGGAGACTCATGAACATCAGTCATTCTGAGGCCACATCCTTCTACTAAACTAATCATTCCGCAGACTTGGATGCACCCCGCTTCCACATGGACTTTACCATCCACAACTTACCAGCAAGAATTTGGAAGATTCCAGTGATGTAAAACCTGCCCCCCTTGGTGAGGGTGAAGAGTTGGCAGAAGAACAGGAACAGAGACAGAATGCTGAAGATGATCGACAGGATCATGGTGGCCTGGACAGACTGCAGCCATTCTGGGGGAAAGAGACACTTGGTTAGGAGAGCTGGCCATGGCCGGGGGAGGGCTCTGCCTCGAGGTGCAGGGCCTGAAGGGCCATGACTGCTGACAGCACAGTCCTCACAGGCAGCAGAAGCAGAAGTCCTTTTTCCTTAGCAGAACTCAGACAATTCACTTTTGCAATCTAAGAAGACATTCTTTATTGTTTATTTTGGAGGAAAAAATATATACATATATACATACATCTATATGTACTGATATATACATATACAAACACACACATGTGCCAATATGTACACATTACATACATATATACCTATATGTACAAATATGCATACAAATATGTACGTGTTTCTATATATATGTGTATATACACATATACAAATACGTGACACACACATATATATAAAAAACACATGTGAACATTCAGGGAAGGGCTGTAAAAAAATATCTATAGTTCCATCACTAGGAGTTAAAGTCATTTTAAAATATATTGAATTTCCTTCCAGTGTTGGTGCAAATGTGTTACTTATGTACATGTGTCTGTGTTAAAGAGGGCCTGAGCCCTGCCTACTACCTTCCCTCTTCTTGCCCTCAGGGGTCTTTGAAGGGCTTATCAGAACTTCTGTATTCCAAGAAAAATAGCTTAAAACCACTATTCAAATTATCTGCATTCCCCAAGGAGAGGTAAAGATCACGGGAATGGCTGTTAGAGCCCAAAGTAATTTTTTGGAAGAATGGAAGAAAATACTGATGAAGAAAGGTATGCTCTCTATAGGTATGGAAATCAATTTGCTTGGACAACCCGTATTTTTTTTTTTTTTTTTTTTTGGTCAACTCTGATCATGGCCATTAGCCTCAGCACAGAGCGGTGTGTGATCGCCAACCACCAGACGGGATGAAGGCTTACACTTCCTTATCTCTGTTGAACCCCAAATCTCCAAGCTTCCAACTGAAATTCAGGCAAGAAGACAGAGCCTCCTATGGTTTCTTCAGTTCACCATCCGCTGCAAACTCATGTCATTTCAGGGAGGAAAGAAGAAACAACCTGAGTTCCACACTGTAGAGGGAAGCCCAGGGTAAAAATCTGCATTTGGCCTCTGTCTTGTCTTCCAAGTGCCACAGAATGCTGGGGGCAGGCACTGCTCTCATGGAGGAAGGGCAACTGGGGAAGCTGCAGCATTTAATCCTTTCAGCTCAGTAACTGCCATATGTAATGGCTTCAAAAGCATACCTTCAATGCTTCACCCAGTACTCACAGCTCTGAAATCTGGATGGTTTATAATTAGTAACTGAGTAAGATAAACTTGTTTTGAGTTGTAAGCAGCTCATGGCAGAATTTTAAGGGTGCAAATTAGGTTAACTGTTCCTAGATTTTCACCTAAGATGTTTCCAAGGCACAGACTGGAGATATTTTAGAGTTGGAAGAAACCTGAGAGATCAACTAGTCCAGCTCCTTTGCACTGAAAGAGATTTCCAGAGGTGTTTTCATGAGCCCAAATGACACAGCCAAATCTAAGAGGCCTTTGATTCTAGTCTAGCACTCTTCACATTCAAGCACAACATATGCTTCTTTCATTTTTTCAATTTCTTTGTCAATTAAAGTAAGAAAATGACGGCTAATGGGTTGTGAGCCATCCTGATTTCACTCTTACATAACCTTAATCAAATGTTTGTCTTTATCCAGCATAGAGGTTCTTCTGGAGGAGCACTTTGCAATAAAGATAATGTTCTCATAATATTGTTTGCTTAAAATAAAAAAATTATCTAGCACTTTGGTAGATGCAGCTGGAATTACAAAGAAATCTGAGACTCAAATCTGAAACTAAAACAAATAAAGGGATTCACTTTGGCTGGGAAATGTCCTTCCATGTGCATGTTCATGAGGAGTATGGCTGGTGGAGACAATATCTTAGATTTCCTTCTCCAATCCTGAGATACTGTCTTCACCCTTAACCCCGCGCCCCTGTCATTTTCAGCAGAAACTACTACGAGACCTCACATACACAGAAAACTTAAAATCTTTA 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CATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAACCCAATCATCGCTTATGAAACTAACATTTCAATAGAAATACATTATGAAAGTTCTGGTTCTAAATCCATATTATCTTGAGGGCATATCCACTGATGCAATGGATATGATCATTATTTGATTTGATATCAAACTAAAACGAGTGAGAAAAAAAAAAAGAAACCCCAGAATATGTTACAGTTGTTTTTATTCCAACTGAAAATTGAGTAAGGGTAACTCTTCACTTTAACGTACCTAGAAATGATATCTCCTTGCATAATTAGTCATTTAACAGAGCCAGCAACCATCCAGGAGCTTGGCTTGGTGTCATAAGACATGTGTAAGTAGCAAAGCACTGTCTGGTTTTGAAATCTCAAAACCATGAGTATTGAAATGTTGTATTTGAGTGTTTAATGAGAAGTGGTTAATCATTTACTTCCTTTTTTCAGGAAAGGGGAACTCTCTGTCTTCTAGACAAGGTCACCAACATCTAACCTTGGGCTGTGTCTTCCCATACAACCCTATTTACGTCAACCTTCCAATGACTGCTCCTGGGGACAGAGTGGTGAAATGGTACCATGGGCATTCTGACAACCAACTCAGAGAAGAGATGCTACATCCTTTGCCCTCTCAGAGGGTCAGAATTGAGAACATCTCCCAGTACCTAGACATACTCTGGTACATATGAAGTTTGTGATCTATGAATTTGGACCACAGAATCCACCACTACATCTAGCTCTTACTTCTCTCCAATGCCCTGCTGGTTCAGTCAACAGTAAGTCAACAGACAGACATGTAAGAGCTAATGTAAGATGCTAGGCAGAATGCAAGATGTAAGATGTAAGATGTAAGATGTAAGCATGTAAGATGCTAGGCAGAATCCAGAGACAAAGTTGGAAGATGTCACCCTGTGTAACAGAAGTTTCTAGGACTCTGCACACTATGCATATTAATAACGTATTTAAAGAGGGAACTTGAAGACAGTTTAGGCAGGAGATTAAGGAGACCTCTCATGTGTTTTCATGTGTTGTCATAGCCCCATGTTTGGAAATGACAATATGTGACACAAGAGTGTCAAAATGAAGACACCAGAGGATGACAACAGTCAATCAAAGCCCAGTAGAATCTAGGAACTGGAAGCAAGGAAGGTGAGAATTTGTCAGTGTGGCTTCATCACTACCTATTGGTGGAAGACACATACCTGATAACTACTTTGCTAGTTCTTAGCACATCAGGGCCATTTTCTGGAGGCATAATGTAATCTACAGAAACAGCTCTCAAGCCTGACCTTTGCTCTACAGATAGCCTCAGTATTCACCTCTGATTATGTGTCCAGATTGCAGTTTCATTCCTGTTGATACGCCTGGCTTGGGTGGGGACCTTCCTTCCAGATCCTCTAAGTTCTCTTTCATATGCATCTCATTCCAGGGAGAAGGGGAGAGTTCTAAGTCCCAAGTTCTAAGACACATACAGGTACACACCCACACATACAAGCACCCACCCTCACTTTATGGAAAGCATCCAGTGGGGAGACTCATGAACATCAGTCATTCTGAGGCCACATCCTTCTACTAAACTAATCATTCCGCAGACTTGGATGCACCCCGCTTCCACATGGACTTTACCATCCACAACTTACCAGCAAGAATTTGGAAGATTCCAGTGATGTAAAACCTGCCCCCCTTGGTGAGGGTGAAGAGTTGGCAGAAGAACAGGAACAGAGACAGAATGCTGAAGATGATCAACAGGATCATGGTGGCCTGGACAGACTGCAGCCATTCTGGGGGAAAGAGACACTTGGTTAGGAGAGCTGGCCATGGCCGGGGGAGGGCTCTGCCTCGAGGTGCAGGGCCTGAAGGGCCATGACTGCTGACAGCACAGTCCTCACAGGCAGCAGAAGCAGAAGTCCTTTTTCCTTAGCAGAACTCAGACAATTCACTTTTGCAATCTAAGAAGACATTCTTTATTGTTTATTTTGGAGGAAAAAATATATACATATATACATACATCTATATGTACTGATATATACATATACAAACACACACATGTGCCAATATGTACACATTACATACATATATACCTATATGTACAAATATGCATACAAATATGTACGTGTTTCTATATATATGTGTATATACACATATACAAATACGTGACACACACATATATATAAAAAACACATGTGAACATTCAGGGAAGGGCTGTAAAAAAATATCTATAGTTCCATCACTAGGAGTTAAAGTCATTTTAAAATATATTGAATTTCCTTCCAGTGTTGGTGCAAATGTGTTACTTATGTACATGTGTCTGTGTTAAAGAGGGCCTGAGCCCTGCCTACTACCTTCCCTCTTCTTGCCCTCAGGGGTCTTTGAAGGGCTTATCAGAACTTCTGTATTCCAAGAAAAATAGCTTAAAACCACTATTCAAATTATCTGCATTCCCCAAGGAGAGGTAAAGATCACGGGAATGGCTGTTAGAGCCCAAAGTAATTTTTTGGAAGAATGGAAGAAAATACTGATGAAGAAAGGTATGCTCTCTATAGGTATGGAAATCAATTTGCTTGGACAACCCGTATTTTTTTTTTTTTTTTTTTTTGGTCAACTCTGATCATGGCCATTAGCCTCAGCACAGAGCGGTGTGTGATCGCCAACCACCAGACGGGATGAAGGCTTACACTTCCTTATCTCTGTTGAACCCCAAATCTCCAAGCTTCCAACTGAAATTCAGGCAAGAAGACAGAGCCTCCTATGGTTTCTTCAGTTCACCATCCGCTGCAAACTCATGTCATTTCAGGGAGGAAAGAAGAAACAACCTGAGTTCCACACTGTAGAGGGAAGCCCAGGGTAAAAATCTGCATTTGGCCTCTGTCTTGTCTTCCAAGTGCCACAGAATGCTGGGGGCAGGCACTGCTCTCATGGAGGAAGGGCAACTGGGGAAGCTGCAGCATTTAATCCTTTCAGCTCAGTAACTGCCATATGTAATGGCTTCAAAAGCATACCTTCAATGCTTCACCCAGTACTCACAGCTCTGAAATCTGGATGGTTTATAATTAGTAACTGAGTAAGATAAACTTGTTTTGAGTTGTAAGCAGCTCATGGCAGAATTTTAAGGGTGCAAATTAGGTTAACTGTTCCTAGATTTTCACCTAAGATGTTTCCAAGGCACAGACTGGAGATATTTTAGAGTTGGAAGAAACCTGAGAGATCAACTAGTCCAGCTCCTTTGCACTGAAAGAGATTTCCAGAGGTGTTTTCATGAGCCCAAATGACACAGCCAAATCTAAGAGGCCTTTGATTCTAGTCTAGCACTCTTCACATTCAAGCACAACATATGCTTCTTTCATTTTTTCAATTTCTTTGTCAATTAAAGTAAGAAAATGACGGCTAATGGGTTGTGAGCCATCCTGATTTCACTCTTACATAACCTTAATCAAATGTTTGTCTTTATCCAGCATAGAGGTTCTTCTGGAGGAGCACTTTGCAATAAAGATAATGTTCTCATAATATTGTTTGCTTAAAATAAAAAAATTATCTAGCACTTTGGTAGATGCAGCTGGAATTACAAAGAAATCTGAGACTCAAATCTGAAACTAAAACAAATAAAGGGATTCACTTTGGCTGGGAAATGTCCTTCCATGTGCATGTTCATGAGGAGTATGGCTGGTGGAGACAATATCTTAGATTTCCTTCTCCAATCCTGAGATACTGTCTTCACCCTTAACCCCGCGCCCCTGTCATTTTCAGCAGAAACTACTACGAGACCTCACATACACAGAAAACTTAAAATCTTTA 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Task1_train_23831 | The gene PMP22 (peripheral myelin protein 22) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Charcot-Marie-Tooth disease, type I | ATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAACCCAATCATCGCTTATGAAACTAACATTTCAATAGAAATACATTATGAAAGTTCTGGTTCTAAATCCATATTATCTTGAGGGCATATCCACTGATGCAATGGATATGATCATTATTTGATTTGATATCAAACTAAAACGAGTGAGAAAAAAAAAAAGAAACCCCAGAATATGTTACAGTTGTTTTTATTCCAACTGAAAATTGAGTAAGGGTAACTCTTCACTTTAACGTACCTAGAAATGATATCTCCTTGCATAATTAGTCATTTAACAGAGCCAGCAACCATCCAGGAGCTTGGCTTGGTGTCATAAGACATGTGTAAGTAGCAAAGCACTGTCTGGTTTTGAAATCTCAAAACCATGAGTATTGAAATGTTGTATTTGAGTGTTTAATGAGAAGTGGTTAATCATTTACTTCCTTTTTTCAGGAAAGGGGAACTCTCTGTCTTCTAGACAAGGTCACCAACATCTAACCTTGGGCTGTGTCTTCCCATACAACCCTATTTACGTCAACCTTCCAATGACTGCTCCTGGGGACAGAGTGGTGAAATGGTACCATGGGCATTCTGACAACCAACTCAGAGAAGAGATGCTACATCCTTTGCCCTCTCAGAGGGTCAGAATTGAGAACATCTCCCAGTACCTAGACATACTCTGGTACATATGAAGTTTGTGATCTATGAATTTGGACCACAGAATCCACCACTACATCTAGCTCTTACTTCTCTCCAATGCCCTGCTGGTTCAGTCAACAGTAAGTCAACAGACAGACATGTAAGAGCTAATGTAAGATGCTAGGCAGAATGCAAGATGTAAGATGTAAGATGTAAGATGTAAGCATGTAAGATGCTAGGCAGAATCCAGAGACAAAGTTGGAAGATGTCACCCTGTGTAACAGAAGTTTCTAGGACTCTGCACACTATGCATATTAATAACGTATTTAAAGAGGGAACTTGAAGACAGTTTAGGCAGGAGATTAAGGAGACCTCTCATGTGTTTTCATGTGTTGTCATAGCCCCATGTTTGGAAATGACAATATGTGACACAAGAGTGTCAAAATGAAGACACCAGAGGATGACAACAGTCAATCAAAGCCCAGTAGAATCTAGGAACTGGAAGCAAGGAAGGTGAGAATTTGTCAGTGTGGCTTCATCACTACCTATTGGTGGAAGACACATACCTGATAACTACTTTGCTAGTTCTTAGCACATCAGGGCCATTTTCTGGAGGCATAATGTAATCTACAGAAACAGCTCTCAAGCCTGACCTTTGCTCTACAGATAGCCTCAGTATTCACCTCTGATTATGTGTCCAGATTGCAGTTTCATTCCTGTTGATACGCCTGGCTTGGGTGGGGACCTTCCTTCCAGATCCTCTAAGTTCTCTTTCATATGCATCTCATTCCAGGGAGAAGGGGAGAGTTCTAAGTCCCAAGTTCTAAGACACATACAGGTACACACCCACACATACAAGCACCCACCCTCACTTTATGGAAAGCATCCAGTGGGGAGACTCATGAACATCAGTCATTCTGAGGCCACATCCTTCTACTAAACTAATCATTCCGCAGACTTGGATGCACCCCGCTTCCACATGGACTTTACCATCCACAACTTACCAGCAAGAATTTGGAAGATTCCAGTGATGTAAAACCTGCCCCCCTTGGTGAGGGTGAAGAGTTGGCAGAAGAACAGGAACAGAGACAGAATGCTGAAGATGATCGACAGGATCATGGTGGCCTGGACAGACTGCAGCCATTCTGGGGGAAAGAGACACTTGGTTAGGAGAGCTGGCCATGGCCGGGGGAGGGCTCTGCCTCGAGGTGCAGGGCCTGAAGGGCCATGACTGCTGACAGCACAGTCCTCACAGGCAGCAGAAGCAGAAGTCCTTTTTCCTTAGCAGAACTCAGACAATTCACTTTTGCAATCTAAGAAGACATTCTTTATTGTTTATTTTGGAGGAAAAAATATATACATATATACATACATCTATATGTACTGATATATACATATACAAACACACACATGTGCCAATATGTACACATTACATACATATATACCTATATGTACAAATATGCATACAAATATGTACGTGTTTCTATATATATGTGTATATACACATATACAAATACGTGACACACACATATATATAAAAAACACATGTGAACATTCAGGGAAGGGCTGTAAAAAAATATCTATAGTTCCATCACTAGGAGTTAAAGTCATTTTAAAATATATTGAATTTCCTTCCAGTGTTGGTGCAAATGTGTTACTTATGTACATGTGTCTGTGTTAAAGAGGGCCTGAGCCCTGCCTACTACCTTCCCTCTTCTTGCCCTCAGGGGTCTTTGAAGGGCTTATCAGAACTTCTGTATTCCAAGAAAAATAGCTTAAAACCACTATTCAAATTATCTGCATTCCCCAAGGAGAGGTAAAGATCACGGGAATGGCTGTTAGAGCCCAAAGTAATTTTTTGGAAGAATGGAAGAAAATACTGATGAAGAAAGGTATGCTCTCTATAGGTATGGAAATCAATTTGCTTGGACAACCCGTATTTTTTTTTTTTTTTTTTTTTGGTCAACTCTGATCATGGCCATTAGCCTCAGCACAGAGCGGTGTGTGATCGCCAACCACCAGACGGGATGAAGGCTTACACTTCCTTATCTCTGTTGAACCCCAAATCTCCAAGCTTCCAACTGAAATTCAGGCAAGAAGACAGAGCCTCCTATGGTTTCTTCAGTTCACCATCCGCTGCAAACTCATGTCATTTCAGGGAGGAAAGAAGAAACAACCTGAGTTCCACACTGTAGAGGGAAGCCCAGGGTAAAAATCTGCATTTGGCCTCTGTCTTGTCTTCCAAGTGCCACAGAATGCTGGGGGCAGGCACTGCTCTCATGGAGGAAGGGCAACTGGGGAAGCTGCAGCATTTAATCCTTTCAGCTCAGTAACTGCCATATGTAATGGCTTCAAAAGCATACCTTCAATGCTTCACCCAGTACTCACAGCTCTGAAATCTGGATGGTTTATAATTAGTAACTGAGTAAGATAAACTTGTTTTGAGTTGTAAGCAGCTCATGGCAGAATTTTAAGGGTGCAAATTAGGTTAACTGTTCCTAGATTTTCACCTAAGATGTTTCCAAGGCACAGACTGGAGATATTTTAGAGTTGGAAGAAACCTGAGAGATCAACTAGTCCAGCTCCTTTGCACTGAAAGAGATTTCCAGAGGTGTTTTCATGAGCCCAAATGACACAGCCAAATCTAAGAGGCCTTTGATTCTAGTCTAGCACTCTTCACATTCAAGCACAACATATGCTTCTTTCATTTTTTCAATTTCTTTGTCAATTAAAGTAAGAAAATGACGGCTAATGGGTTGTGAGCCATCCTGATTTCACTCTTACATAACCTTAATCAAATGTTTGTCTTTATCCAGCATAGAGGTTCTTCTGGAGGAGCACTTTGCAATAAAGATAATGTTCTCATAATATTGTTTGCTTAAAATAAAAAAATTATCTAGCACTTTGGTAGATGCAGCTGGAATTACAAAGAAATCTGAGACTCAAATCTGAAACTAAAACAAATAAAGGGATTCACTTTGGCTGGGAAATGTCCTTCCATGTGCATGTTCATGAGGAGTATGGCTGGTGGAGACAATATCTTAGATTTCCTTCTCCAATCCTGAGATACTGTCTTCACCCTTAACCCCGCGCCCCTGTCATTTTCAGCAGAAACTACTACGAGACCTCACATACACAGAAAACTTAAAATCTTTAT 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ATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAACCCAATCATCGCTTATGAAACTAACATTTCAATAGAAATACATTATGAAAGTTCTGGTTCTAAATCCATATTATCTTGAGGGCATATCCACTGATGCAATGGATATGATCATTATTTGATTTGATATCAAACTAAAACGAGTGAGAAAAAAAAAAAGAAACCCCAGAATATGTTACAGTTGTTTTTATTCCAACTGAAAATTGAGTAAGGGTAACTCTTCACTTTAACGTACCTAGAAATGATATCTCCTTGCATAATTAGTCATTTAACAGAGCCAGCAACCATCCAGGAGCTTGGCTTGGTGTCATAAGACATGTGTAAGTAGCAAAGCACTGTCTGGTTTTGAAATCTCAAAACCATGAGTATTGAAATGTTGTATTTGAGTGTTTAATGAGAAGTGGTTAATCATTTACTTCCTTTTTTCAGGAAAGGGGAACTCTCTGTCTTCTAGACAAGGTCACCAACATCTAACCTTGGGCTGTGTCTTCCCATACAACCCTATTTACGTCAACCTTCCAATGACTGCTCCTGGGGACAGAGTGGTGAAATGGTACCATGGGCATTCTGACAACCAACTCAGAGAAGAGATGCTACATCCTTTGCCCTCTCAGAGGGTCAGAATTGAGAACATCTCCCAGTACCTAGACATACTCTGGTACATATGAAGTTTGTGATCTATGAATTTGGACCACAGAATCCACCACTACATCTAGCTCTTACTTCTCTCCAATGCCCTGCTGGTTCAGTCAACAGTAAGTCAACAGACAGACATGTAAGAGCTAATGTAAGATGCTAGGCAGAATGCAAGATGTAAGATGTAAGATGTAAGATGTAAGCATGTAAGATGCTAGGCAGAATCCAGAGACAAAGTTGGAAGATGTCACCCTGTGTAACAGAAGTTTCTAGGACTCTGCACACTATGCATATTAATAACGTATTTAAAGAGGGAACTTGAAGACAGTTTAGGCAGGAGATTAAGGAGACCTCTCATGTGTTTTCATGTGTTGTCATAGCCCCATGTTTGGAAATGACAATATGTGACACAAGAGTGTCAAAATGAAGACACCAGAGGATGACAACAGTCAATCAAAGCCCAGTAGAATCTAGGAACTGGAAGCAAGGAAGGTGAGAATTTGTCAGTGTGGCTTCATCACTACCTATTGGTGGAAGACACATACCTGATAACTACTTTGCTAGTTCTTAGCACATCAGGGCCATTTTCTGGAGGCATAATGTAATCTACAGAAACAGCTCTCAAGCCTGACCTTTGCTCTACAGATAGCCTCAGTATTCACCTCTGATTATGTGTCCAGATTGCAGTTTCATTCCTGTTGATACGCCTGGCTTGGGTGGGGACCTTCCTTCCAGATCCTCTAAGTTCTCTTTCATATGCATCTCATTCCAGGGAGAAGGGGAGAGTTCTAAGTCCCAAGTTCTAAGACACATACAGGTACACACCCACACATACAAGCACCCACCCTCACTTTATGGAAAGCATCCAGTGGGGAGACTCATGAACATCAGTCATTCTGAGGCCACATCCTTCTACTAAACTAATCATTCCGCAGACTTGGATGCACCCCGCTTCCACATGGACTTTACCATCCACAACTTACCAGCAAGAATTTGGAAGATTCCAGTGATGTAAAACCTGCCCCCCTTGGTGAGGGTGAAGAGTTGGCAGAAGAACAGGAACAGAGACAGAATGCTGAAGATGATCGGCAGGATCATGGTGGCCTGGACAGACTGCAGCCATTCTGGGGGAAAGAGACACTTGGTTAGGAGAGCTGGCCATGGCCGGGGGAGGGCTCTGCCTCGAGGTGCAGGGCCTGAAGGGCCATGACTGCTGACAGCACAGTCCTCACAGGCAGCAGAAGCAGAAGTCCTTTTTCCTTAGCAGAACTCAGACAATTCACTTTTGCAATCTAAGAAGACATTCTTTATTGTTTATTTTGGAGGAAAAAATATATACATATATACATACATCTATATGTACTGATATATACATATACAAACACACACATGTGCCAATATGTACACATTACATACATATATACCTATATGTACAAATATGCATACAAATATGTACGTGTTTCTATATATATGTGTATATACACATATACAAATACGTGACACACACATATATATAAAAAACACATGTGAACATTCAGGGAAGGGCTGTAAAAAAATATCTATAGTTCCATCACTAGGAGTTAAAGTCATTTTAAAATATATTGAATTTCCTTCCAGTGTTGGTGCAAATGTGTTACTTATGTACATGTGTCTGTGTTAAAGAGGGCCTGAGCCCTGCCTACTACCTTCCCTCTTCTTGCCCTCAGGGGTCTTTGAAGGGCTTATCAGAACTTCTGTATTCCAAGAAAAATAGCTTAAAACCACTATTCAAATTATCTGCATTCCCCAAGGAGAGGTAAAGATCACGGGAATGGCTGTTAGAGCCCAAAGTAATTTTTTGGAAGAATGGAAGAAAATACTGATGAAGAAAGGTATGCTCTCTATAGGTATGGAAATCAATTTGCTTGGACAACCCGTATTTTTTTTTTTTTTTTTTTTTGGTCAACTCTGATCATGGCCATTAGCCTCAGCACAGAGCGGTGTGTGATCGCCAACCACCAGACGGGATGAAGGCTTACACTTCCTTATCTCTGTTGAACCCCAAATCTCCAAGCTTCCAACTGAAATTCAGGCAAGAAGACAGAGCCTCCTATGGTTTCTTCAGTTCACCATCCGCTGCAAACTCATGTCATTTCAGGGAGGAAAGAAGAAACAACCTGAGTTCCACACTGTAGAGGGAAGCCCAGGGTAAAAATCTGCATTTGGCCTCTGTCTTGTCTTCCAAGTGCCACAGAATGCTGGGGGCAGGCACTGCTCTCATGGAGGAAGGGCAACTGGGGAAGCTGCAGCATTTAATCCTTTCAGCTCAGTAACTGCCATATGTAATGGCTTCAAAAGCATACCTTCAATGCTTCACCCAGTACTCACAGCTCTGAAATCTGGATGGTTTATAATTAGTAACTGAGTAAGATAAACTTGTTTTGAGTTGTAAGCAGCTCATGGCAGAATTTTAAGGGTGCAAATTAGGTTAACTGTTCCTAGATTTTCACCTAAGATGTTTCCAAGGCACAGACTGGAGATATTTTAGAGTTGGAAGAAACCTGAGAGATCAACTAGTCCAGCTCCTTTGCACTGAAAGAGATTTCCAGAGGTGTTTTCATGAGCCCAAATGACACAGCCAAATCTAAGAGGCCTTTGATTCTAGTCTAGCACTCTTCACATTCAAGCACAACATATGCTTCTTTCATTTTTTCAATTTCTTTGTCAATTAAAGTAAGAAAATGACGGCTAATGGGTTGTGAGCCATCCTGATTTCACTCTTACATAACCTTAATCAAATGTTTGTCTTTATCCAGCATAGAGGTTCTTCTGGAGGAGCACTTTGCAATAAAGATAATGTTCTCATAATATTGTTTGCTTAAAATAAAAAAATTATCTAGCACTTTGGTAGATGCAGCTGGAATTACAAAGAAATCTGAGACTCAAATCTGAAACTAAAACAAATAAAGGGATTCACTTTGGCTGGGAAATGTCCTTCCATGTGCATGTTCATGAGGAGTATGGCTGGTGGAGACAATATCTTAGATTTCCTTCTCCAATCCTGAGATACTGTCTTCACCCTTAACCCCGCGCCCCTGTCATTTTCAGCAGAAACTACTACGAGACCTCACATACACAGAAAACTTAAAATCTTTAT 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Task1_train_23832 | This variant affects the gene PMP22 (peripheral myelin protein 22) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Charcot-Marie-Tooth disease, type I | TCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAACCCAATCATCGCTTATGAAACTAACATTTCAATAGAAATACATTATGAAAGTTCTGGTTCTAAATCCATATTATCTTGAGGGCATATCCACTGATGCAATGGATATGATCATTATTTGATTTGATATCAAACTAAAACGAGTGAGAAAAAAAAAAAGAAACCCCAGAATATGTTACAGTTGTTTTTATTCCAACTGAAAATTGAGTAAGGGTAACTCTTCACTTTAACGTACCTAGAAATGATATCTCCTTGCATAATTAGTCATTTAACAGAGCCAGCAACCATCCAGGAGCTTGGCTTGGTGTCATAAGACATGTGTAAGTAGCAAAGCACTGTCTGGTTTTGAAATCTCAAAACCATGAGTATTGAAATGTTGTATTTGAGTGTTTAATGAGAAGTGGTTAATCATTTACTTCCTTTTTTCAGGAAAGGGGAACTCTCTGTCTTCTAGACAAGGTCACCAACATCTAACCTTGGGCTGTGTCTTCCCATACAACCCTATTTACGTCAACCTTCCAATGACTGCTCCTGGGGACAGAGTGGTGAAATGGTACCATGGGCATTCTGACAACCAACTCAGAGAAGAGATGCTACATCCTTTGCCCTCTCAGAGGGTCAGAATTGAGAACATCTCCCAGTACCTAGACATACTCTGGTACATATGAAGTTTGTGATCTATGAATTTGGACCACAGAATCCACCACTACATCTAGCTCTTACTTCTCTCCAATGCCCTGCTGGTTCAGTCAACAGTAAGTCAACAGACAGACATGTAAGAGCTAATGTAAGATGCTAGGCAGAATGCAAGATGTAAGATGTAAGATGTAAGATGTAAGCATGTAAGATGCTAGGCAGAATCCAGAGACAAAGTTGGAAGATGTCACCCTGTGTAACAGAAGTTTCTAGGACTCTGCACACTATGCATATTAATAACGTATTTAAAGAGGGAACTTGAAGACAGTTTAGGCAGGAGATTAAGGAGACCTCTCATGTGTTTTCATGTGTTGTCATAGCCCCATGTTTGGAAATGACAATATGTGACACAAGAGTGTCAAAATGAAGACACCAGAGGATGACAACAGTCAATCAAAGCCCAGTAGAATCTAGGAACTGGAAGCAAGGAAGGTGAGAATTTGTCAGTGTGGCTTCATCACTACCTATTGGTGGAAGACACATACCTGATAACTACTTTGCTAGTTCTTAGCACATCAGGGCCATTTTCTGGAGGCATAATGTAATCTACAGAAACAGCTCTCAAGCCTGACCTTTGCTCTACAGATAGCCTCAGTATTCACCTCTGATTATGTGTCCAGATTGCAGTTTCATTCCTGTTGATACGCCTGGCTTGGGTGGGGACCTTCCTTCCAGATCCTCTAAGTTCTCTTTCATATGCATCTCATTCCAGGGAGAAGGGGAGAGTTCTAAGTCCCAAGTTCTAAGACACATACAGGTACACACCCACACATACAAGCACCCACCCTCACTTTATGGAAAGCATCCAGTGGGGAGACTCATGAACATCAGTCATTCTGAGGCCACATCCTTCTACTAAACTAATCATTCCGCAGACTTGGATGCACCCCGCTTCCACATGGACTTTACCATCCACAACTTACCAGCAAGAATTTGGAAGATTCCAGTGATGTAAAACCTGCCCCCCTTGGTGAGGGTGAAGAGTTGGCAGAAGAACAGGAACAGAGACAGAATGCTGAAGATGATCGACAGGATCATGGTGGCCTGGACAGACTGCAGCCATTCTGGGGGAAAGAGACACTTGGTTAGGAGAGCTGGCCATGGCCGGGGGAGGGCTCTGCCTCGAGGTGCAGGGCCTGAAGGGCCATGACTGCTGACAGCACAGTCCTCACAGGCAGCAGAAGCAGAAGTCCTTTTTCCTTAGCAGAACTCAGACAATTCACTTTTGCAATCTAAGAAGACATTCTTTATTGTTTATTTTGGAGGAAAAAATATATACATATATACATACATCTATATGTACTGATATATACATATACAAACACACACATGTGCCAATATGTACACATTACATACATATATACCTATATGTACAAATATGCATACAAATATGTACGTGTTTCTATATATATGTGTATATACACATATACAAATACGTGACACACACATATATATAAAAAACACATGTGAACATTCAGGGAAGGGCTGTAAAAAAATATCTATAGTTCCATCACTAGGAGTTAAAGTCATTTTAAAATATATTGAATTTCCTTCCAGTGTTGGTGCAAATGTGTTACTTATGTACATGTGTCTGTGTTAAAGAGGGCCTGAGCCCTGCCTACTACCTTCCCTCTTCTTGCCCTCAGGGGTCTTTGAAGGGCTTATCAGAACTTCTGTATTCCAAGAAAAATAGCTTAAAACCACTATTCAAATTATCTGCATTCCCCAAGGAGAGGTAAAGATCACGGGAATGGCTGTTAGAGCCCAAAGTAATTTTTTGGAAGAATGGAAGAAAATACTGATGAAGAAAGGTATGCTCTCTATAGGTATGGAAATCAATTTGCTTGGACAACCCGTATTTTTTTTTTTTTTTTTTTTTGGTCAACTCTGATCATGGCCATTAGCCTCAGCACAGAGCGGTGTGTGATCGCCAACCACCAGACGGGATGAAGGCTTACACTTCCTTATCTCTGTTGAACCCCAAATCTCCAAGCTTCCAACTGAAATTCAGGCAAGAAGACAGAGCCTCCTATGGTTTCTTCAGTTCACCATCCGCTGCAAACTCATGTCATTTCAGGGAGGAAAGAAGAAACAACCTGAGTTCCACACTGTAGAGGGAAGCCCAGGGTAAAAATCTGCATTTGGCCTCTGTCTTGTCTTCCAAGTGCCACAGAATGCTGGGGGCAGGCACTGCTCTCATGGAGGAAGGGCAACTGGGGAAGCTGCAGCATTTAATCCTTTCAGCTCAGTAACTGCCATATGTAATGGCTTCAAAAGCATACCTTCAATGCTTCACCCAGTACTCACAGCTCTGAAATCTGGATGGTTTATAATTAGTAACTGAGTAAGATAAACTTGTTTTGAGTTGTAAGCAGCTCATGGCAGAATTTTAAGGGTGCAAATTAGGTTAACTGTTCCTAGATTTTCACCTAAGATGTTTCCAAGGCACAGACTGGAGATATTTTAGAGTTGGAAGAAACCTGAGAGATCAACTAGTCCAGCTCCTTTGCACTGAAAGAGATTTCCAGAGGTGTTTTCATGAGCCCAAATGACACAGCCAAATCTAAGAGGCCTTTGATTCTAGTCTAGCACTCTTCACATTCAAGCACAACATATGCTTCTTTCATTTTTTCAATTTCTTTGTCAATTAAAGTAAGAAAATGACGGCTAATGGGTTGTGAGCCATCCTGATTTCACTCTTACATAACCTTAATCAAATGTTTGTCTTTATCCAGCATAGAGGTTCTTCTGGAGGAGCACTTTGCAATAAAGATAATGTTCTCATAATATTGTTTGCTTAAAATAAAAAAATTATCTAGCACTTTGGTAGATGCAGCTGGAATTACAAAGAAATCTGAGACTCAAATCTGAAACTAAAACAAATAAAGGGATTCACTTTGGCTGGGAAATGTCCTTCCATGTGCATGTTCATGAGGAGTATGGCTGGTGGAGACAATATCTTAGATTTCCTTCTCCAATCCTGAGATACTGTCTTCACCCTTAACCCCGCGCCCCTGTCATTTTCAGCAGAAACTACTACGAGACCTCACATACACAGAAAACTTAAAATCTTTATATGTTAAA 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TCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAACCCAATCATCGCTTATGAAACTAACATTTCAATAGAAATACATTATGAAAGTTCTGGTTCTAAATCCATATTATCTTGAGGGCATATCCACTGATGCAATGGATATGATCATTATTTGATTTGATATCAAACTAAAACGAGTGAGAAAAAAAAAAAGAAACCCCAGAATATGTTACAGTTGTTTTTATTCCAACTGAAAATTGAGTAAGGGTAACTCTTCACTTTAACGTACCTAGAAATGATATCTCCTTGCATAATTAGTCATTTAACAGAGCCAGCAACCATCCAGGAGCTTGGCTTGGTGTCATAAGACATGTGTAAGTAGCAAAGCACTGTCTGGTTTTGAAATCTCAAAACCATGAGTATTGAAATGTTGTATTTGAGTGTTTAATGAGAAGTGGTTAATCATTTACTTCCTTTTTTCAGGAAAGGGGAACTCTCTGTCTTCTAGACAAGGTCACCAACATCTAACCTTGGGCTGTGTCTTCCCATACAACCCTATTTACGTCAACCTTCCAATGACTGCTCCTGGGGACAGAGTGGTGAAATGGTACCATGGGCATTCTGACAACCAACTCAGAGAAGAGATGCTACATCCTTTGCCCTCTCAGAGGGTCAGAATTGAGAACATCTCCCAGTACCTAGACATACTCTGGTACATATGAAGTTTGTGATCTATGAATTTGGACCACAGAATCCACCACTACATCTAGCTCTTACTTCTCTCCAATGCCCTGCTGGTTCAGTCAACAGTAAGTCAACAGACAGACATGTAAGAGCTAATGTAAGATGCTAGGCAGAATGCAAGATGTAAGATGTAAGATGTAAGATGTAAGCATGTAAGATGCTAGGCAGAATCCAGAGACAAAGTTGGAAGATGTCACCCTGTGTAACAGAAGTTTCTAGGACTCTGCACACTATGCATATTAATAACGTATTTAAAGAGGGAACTTGAAGACAGTTTAGGCAGGAGATTAAGGAGACCTCTCATGTGTTTTCATGTGTTGTCATAGCCCCATGTTTGGAAATGACAATATGTGACACAAGAGTGTCAAAATGAAGACACCAGAGGATGACAACAGTCAATCAAAGCCCAGTAGAATCTAGGAACTGGAAGCAAGGAAGGTGAGAATTTGTCAGTGTGGCTTCATCACTACCTATTGGTGGAAGACACATACCTGATAACTACTTTGCTAGTTCTTAGCACATCAGGGCCATTTTCTGGAGGCATAATGTAATCTACAGAAACAGCTCTCAAGCCTGACCTTTGCTCTACAGATAGCCTCAGTATTCACCTCTGATTATGTGTCCAGATTGCAGTTTCATTCCTGTTGATACGCCTGGCTTGGGTGGGGACCTTCCTTCCAGATCCTCTAAGTTCTCTTTCATATGCATCTCATTCCAGGGAGAAGGGGAGAGTTCTAAGTCCCAAGTTCTAAGACACATACAGGTACACACCCACACATACAAGCACCCACCCTCACTTTATGGAAAGCATCCAGTGGGGAGACTCATGAACATCAGTCATTCTGAGGCCACATCCTTCTACTAAACTAATCATTCCGCAGACTTGGATGCACCCCGCTTCCACATGGACTTTACCATCCACAACTTACCAGCAAGAATTTGGAAGATTCCAGTGATGTAAAACCTGCCCCCCTTGGTGAGGGTGAAGAGTTGGCAGAAGAACAGGAACAGAGACAGAATGCTGAAGATGATCGACAGGATCTTGGTGGCCTGGACAGACTGCAGCCATTCTGGGGGAAAGAGACACTTGGTTAGGAGAGCTGGCCATGGCCGGGGGAGGGCTCTGCCTCGAGGTGCAGGGCCTGAAGGGCCATGACTGCTGACAGCACAGTCCTCACAGGCAGCAGAAGCAGAAGTCCTTTTTCCTTAGCAGAACTCAGACAATTCACTTTTGCAATCTAAGAAGACATTCTTTATTGTTTATTTTGGAGGAAAAAATATATACATATATACATACATCTATATGTACTGATATATACATATACAAACACACACATGTGCCAATATGTACACATTACATACATATATACCTATATGTACAAATATGCATACAAATATGTACGTGTTTCTATATATATGTGTATATACACATATACAAATACGTGACACACACATATATATAAAAAACACATGTGAACATTCAGGGAAGGGCTGTAAAAAAATATCTATAGTTCCATCACTAGGAGTTAAAGTCATTTTAAAATATATTGAATTTCCTTCCAGTGTTGGTGCAAATGTGTTACTTATGTACATGTGTCTGTGTTAAAGAGGGCCTGAGCCCTGCCTACTACCTTCCCTCTTCTTGCCCTCAGGGGTCTTTGAAGGGCTTATCAGAACTTCTGTATTCCAAGAAAAATAGCTTAAAACCACTATTCAAATTATCTGCATTCCCCAAGGAGAGGTAAAGATCACGGGAATGGCTGTTAGAGCCCAAAGTAATTTTTTGGAAGAATGGAAGAAAATACTGATGAAGAAAGGTATGCTCTCTATAGGTATGGAAATCAATTTGCTTGGACAACCCGTATTTTTTTTTTTTTTTTTTTTTGGTCAACTCTGATCATGGCCATTAGCCTCAGCACAGAGCGGTGTGTGATCGCCAACCACCAGACGGGATGAAGGCTTACACTTCCTTATCTCTGTTGAACCCCAAATCTCCAAGCTTCCAACTGAAATTCAGGCAAGAAGACAGAGCCTCCTATGGTTTCTTCAGTTCACCATCCGCTGCAAACTCATGTCATTTCAGGGAGGAAAGAAGAAACAACCTGAGTTCCACACTGTAGAGGGAAGCCCAGGGTAAAAATCTGCATTTGGCCTCTGTCTTGTCTTCCAAGTGCCACAGAATGCTGGGGGCAGGCACTGCTCTCATGGAGGAAGGGCAACTGGGGAAGCTGCAGCATTTAATCCTTTCAGCTCAGTAACTGCCATATGTAATGGCTTCAAAAGCATACCTTCAATGCTTCACCCAGTACTCACAGCTCTGAAATCTGGATGGTTTATAATTAGTAACTGAGTAAGATAAACTTGTTTTGAGTTGTAAGCAGCTCATGGCAGAATTTTAAGGGTGCAAATTAGGTTAACTGTTCCTAGATTTTCACCTAAGATGTTTCCAAGGCACAGACTGGAGATATTTTAGAGTTGGAAGAAACCTGAGAGATCAACTAGTCCAGCTCCTTTGCACTGAAAGAGATTTCCAGAGGTGTTTTCATGAGCCCAAATGACACAGCCAAATCTAAGAGGCCTTTGATTCTAGTCTAGCACTCTTCACATTCAAGCACAACATATGCTTCTTTCATTTTTTCAATTTCTTTGTCAATTAAAGTAAGAAAATGACGGCTAATGGGTTGTGAGCCATCCTGATTTCACTCTTACATAACCTTAATCAAATGTTTGTCTTTATCCAGCATAGAGGTTCTTCTGGAGGAGCACTTTGCAATAAAGATAATGTTCTCATAATATTGTTTGCTTAAAATAAAAAAATTATCTAGCACTTTGGTAGATGCAGCTGGAATTACAAAGAAATCTGAGACTCAAATCTGAAACTAAAACAAATAAAGGGATTCACTTTGGCTGGGAAATGTCCTTCCATGTGCATGTTCATGAGGAGTATGGCTGGTGGAGACAATATCTTAGATTTCCTTCTCCAATCCTGAGATACTGTCTTCACCCTTAACCCCGCGCCCCTGTCATTTTCAGCAGAAACTACTACGAGACCTCACATACACAGAAAACTTAAAATCTTTATATGTTAAA 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Task1_train_23833 | The gene PMP22 (peripheral myelin protein 22) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Charcot-Marie-Tooth disease, type IA | TCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAACCCAATCATCGCTTATGAAACTAACATTTCAATAGAAATACATTATGAAAGTTCTGGTTCTAAATCCATATTATCTTGAGGGCATATCCACTGATGCAATGGATATGATCATTATTTGATTTGATATCAAACTAAAACGAGTGAGAAAAAAAAAAAGAAACCCCAGAATATGTTACAGTTGTTTTTATTCCAACTGAAAATTGAGTAAGGGTAACTCTTCACTTTAACGTACCTAGAAATGATATCTCCTTGCATAATTAGTCATTTAACAGAGCCAGCAACCATCCAGGAGCTTGGCTTGGTGTCATAAGACATGTGTAAGTAGCAAAGCACTGTCTGGTTTTGAAATCTCAAAACCATGAGTATTGAAATGTTGTATTTGAGTGTTTAATGAGAAGTGGTTAATCATTTACTTCCTTTTTTCAGGAAAGGGGAACTCTCTGTCTTCTAGACAAGGTCACCAACATCTAACCTTGGGCTGTGTCTTCCCATACAACCCTATTTACGTCAACCTTCCAATGACTGCTCCTGGGGACAGAGTGGTGAAATGGTACCATGGGCATTCTGACAACCAACTCAGAGAAGAGATGCTACATCCTTTGCCCTCTCAGAGGGTCAGAATTGAGAACATCTCCCAGTACCTAGACATACTCTGGTACATATGAAGTTTGTGATCTATGAATTTGGACCACAGAATCCACCACTACATCTAGCTCTTACTTCTCTCCAATGCCCTGCTGGTTCAGTCAACAGTAAGTCAACAGACAGACATGTAAGAGCTAATGTAAGATGCTAGGCAGAATGCAAGATGTAAGATGTAAGATGTAAGATGTAAGCATGTAAGATGCTAGGCAGAATCCAGAGACAAAGTTGGAAGATGTCACCCTGTGTAACAGAAGTTTCTAGGACTCTGCACACTATGCATATTAATAACGTATTTAAAGAGGGAACTTGAAGACAGTTTAGGCAGGAGATTAAGGAGACCTCTCATGTGTTTTCATGTGTTGTCATAGCCCCATGTTTGGAAATGACAATATGTGACACAAGAGTGTCAAAATGAAGACACCAGAGGATGACAACAGTCAATCAAAGCCCAGTAGAATCTAGGAACTGGAAGCAAGGAAGGTGAGAATTTGTCAGTGTGGCTTCATCACTACCTATTGGTGGAAGACACATACCTGATAACTACTTTGCTAGTTCTTAGCACATCAGGGCCATTTTCTGGAGGCATAATGTAATCTACAGAAACAGCTCTCAAGCCTGACCTTTGCTCTACAGATAGCCTCAGTATTCACCTCTGATTATGTGTCCAGATTGCAGTTTCATTCCTGTTGATACGCCTGGCTTGGGTGGGGACCTTCCTTCCAGATCCTCTAAGTTCTCTTTCATATGCATCTCATTCCAGGGAGAAGGGGAGAGTTCTAAGTCCCAAGTTCTAAGACACATACAGGTACACACCCACACATACAAGCACCCACCCTCACTTTATGGAAAGCATCCAGTGGGGAGACTCATGAACATCAGTCATTCTGAGGCCACATCCTTCTACTAAACTAATCATTCCGCAGACTTGGATGCACCCCGCTTCCACATGGACTTTACCATCCACAACTTACCAGCAAGAATTTGGAAGATTCCAGTGATGTAAAACCTGCCCCCCTTGGTGAGGGTGAAGAGTTGGCAGAAGAACAGGAACAGAGACAGAATGCTGAAGATGATCGACAGGATCATGGTGGCCTGGACAGACTGCAGCCATTCTGGGGGAAAGAGACACTTGGTTAGGAGAGCTGGCCATGGCCGGGGGAGGGCTCTGCCTCGAGGTGCAGGGCCTGAAGGGCCATGACTGCTGACAGCACAGTCCTCACAGGCAGCAGAAGCAGAAGTCCTTTTTCCTTAGCAGAACTCAGACAATTCACTTTTGCAATCTAAGAAGACATTCTTTATTGTTTATTTTGGAGGAAAAAATATATACATATATACATACATCTATATGTACTGATATATACATATACAAACACACACATGTGCCAATATGTACACATTACATACATATATACCTATATGTACAAATATGCATACAAATATGTACGTGTTTCTATATATATGTGTATATACACATATACAAATACGTGACACACACATATATATAAAAAACACATGTGAACATTCAGGGAAGGGCTGTAAAAAAATATCTATAGTTCCATCACTAGGAGTTAAAGTCATTTTAAAATATATTGAATTTCCTTCCAGTGTTGGTGCAAATGTGTTACTTATGTACATGTGTCTGTGTTAAAGAGGGCCTGAGCCCTGCCTACTACCTTCCCTCTTCTTGCCCTCAGGGGTCTTTGAAGGGCTTATCAGAACTTCTGTATTCCAAGAAAAATAGCTTAAAACCACTATTCAAATTATCTGCATTCCCCAAGGAGAGGTAAAGATCACGGGAATGGCTGTTAGAGCCCAAAGTAATTTTTTGGAAGAATGGAAGAAAATACTGATGAAGAAAGGTATGCTCTCTATAGGTATGGAAATCAATTTGCTTGGACAACCCGTATTTTTTTTTTTTTTTTTTTTTGGTCAACTCTGATCATGGCCATTAGCCTCAGCACAGAGCGGTGTGTGATCGCCAACCACCAGACGGGATGAAGGCTTACACTTCCTTATCTCTGTTGAACCCCAAATCTCCAAGCTTCCAACTGAAATTCAGGCAAGAAGACAGAGCCTCCTATGGTTTCTTCAGTTCACCATCCGCTGCAAACTCATGTCATTTCAGGGAGGAAAGAAGAAACAACCTGAGTTCCACACTGTAGAGGGAAGCCCAGGGTAAAAATCTGCATTTGGCCTCTGTCTTGTCTTCCAAGTGCCACAGAATGCTGGGGGCAGGCACTGCTCTCATGGAGGAAGGGCAACTGGGGAAGCTGCAGCATTTAATCCTTTCAGCTCAGTAACTGCCATATGTAATGGCTTCAAAAGCATACCTTCAATGCTTCACCCAGTACTCACAGCTCTGAAATCTGGATGGTTTATAATTAGTAACTGAGTAAGATAAACTTGTTTTGAGTTGTAAGCAGCTCATGGCAGAATTTTAAGGGTGCAAATTAGGTTAACTGTTCCTAGATTTTCACCTAAGATGTTTCCAAGGCACAGACTGGAGATATTTTAGAGTTGGAAGAAACCTGAGAGATCAACTAGTCCAGCTCCTTTGCACTGAAAGAGATTTCCAGAGGTGTTTTCATGAGCCCAAATGACACAGCCAAATCTAAGAGGCCTTTGATTCTAGTCTAGCACTCTTCACATTCAAGCACAACATATGCTTCTTTCATTTTTTCAATTTCTTTGTCAATTAAAGTAAGAAAATGACGGCTAATGGGTTGTGAGCCATCCTGATTTCACTCTTACATAACCTTAATCAAATGTTTGTCTTTATCCAGCATAGAGGTTCTTCTGGAGGAGCACTTTGCAATAAAGATAATGTTCTCATAATATTGTTTGCTTAAAATAAAAAAATTATCTAGCACTTTGGTAGATGCAGCTGGAATTACAAAGAAATCTGAGACTCAAATCTGAAACTAAAACAAATAAAGGGATTCACTTTGGCTGGGAAATGTCCTTCCATGTGCATGTTCATGAGGAGTATGGCTGGTGGAGACAATATCTTAGATTTCCTTCTCCAATCCTGAGATACTGTCTTCACCCTTAACCCCGCGCCCCTGTCATTTTCAGCAGAAACTACTACGAGACCTCACATACACAGAAAACTTAAAATCTTTATATGTTAAA 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TCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAACCCAATCATCGCTTATGAAACTAACATTTCAATAGAAATACATTATGAAAGTTCTGGTTCTAAATCCATATTATCTTGAGGGCATATCCACTGATGCAATGGATATGATCATTATTTGATTTGATATCAAACTAAAACGAGTGAGAAAAAAAAAAAGAAACCCCAGAATATGTTACAGTTGTTTTTATTCCAACTGAAAATTGAGTAAGGGTAACTCTTCACTTTAACGTACCTAGAAATGATATCTCCTTGCATAATTAGTCATTTAACAGAGCCAGCAACCATCCAGGAGCTTGGCTTGGTGTCATAAGACATGTGTAAGTAGCAAAGCACTGTCTGGTTTTGAAATCTCAAAACCATGAGTATTGAAATGTTGTATTTGAGTGTTTAATGAGAAGTGGTTAATCATTTACTTCCTTTTTTCAGGAAAGGGGAACTCTCTGTCTTCTAGACAAGGTCACCAACATCTAACCTTGGGCTGTGTCTTCCCATACAACCCTATTTACGTCAACCTTCCAATGACTGCTCCTGGGGACAGAGTGGTGAAATGGTACCATGGGCATTCTGACAACCAACTCAGAGAAGAGATGCTACATCCTTTGCCCTCTCAGAGGGTCAGAATTGAGAACATCTCCCAGTACCTAGACATACTCTGGTACATATGAAGTTTGTGATCTATGAATTTGGACCACAGAATCCACCACTACATCTAGCTCTTACTTCTCTCCAATGCCCTGCTGGTTCAGTCAACAGTAAGTCAACAGACAGACATGTAAGAGCTAATGTAAGATGCTAGGCAGAATGCAAGATGTAAGATGTAAGATGTAAGATGTAAGCATGTAAGATGCTAGGCAGAATCCAGAGACAAAGTTGGAAGATGTCACCCTGTGTAACAGAAGTTTCTAGGACTCTGCACACTATGCATATTAATAACGTATTTAAAGAGGGAACTTGAAGACAGTTTAGGCAGGAGATTAAGGAGACCTCTCATGTGTTTTCATGTGTTGTCATAGCCCCATGTTTGGAAATGACAATATGTGACACAAGAGTGTCAAAATGAAGACACCAGAGGATGACAACAGTCAATCAAAGCCCAGTAGAATCTAGGAACTGGAAGCAAGGAAGGTGAGAATTTGTCAGTGTGGCTTCATCACTACCTATTGGTGGAAGACACATACCTGATAACTACTTTGCTAGTTCTTAGCACATCAGGGCCATTTTCTGGAGGCATAATGTAATCTACAGAAACAGCTCTCAAGCCTGACCTTTGCTCTACAGATAGCCTCAGTATTCACCTCTGATTATGTGTCCAGATTGCAGTTTCATTCCTGTTGATACGCCTGGCTTGGGTGGGGACCTTCCTTCCAGATCCTCTAAGTTCTCTTTCATATGCATCTCATTCCAGGGAGAAGGGGAGAGTTCTAAGTCCCAAGTTCTAAGACACATACAGGTACACACCCACACATACAAGCACCCACCCTCACTTTATGGAAAGCATCCAGTGGGGAGACTCATGAACATCAGTCATTCTGAGGCCACATCCTTCTACTAAACTAATCATTCCGCAGACTTGGATGCACCCCGCTTCCACATGGACTTTACCATCCACAACTTACCAGCAAGAATTTGGAAGATTCCAGTGATGTAAAACCTGCCCCCCTTGGTGAGGGTGAAGAGTTGGCAGAAGAACAGGAACAGAGACAGAATGCTGAAGATGATCGACAGGATCTTGGTGGCCTGGACAGACTGCAGCCATTCTGGGGGAAAGAGACACTTGGTTAGGAGAGCTGGCCATGGCCGGGGGAGGGCTCTGCCTCGAGGTGCAGGGCCTGAAGGGCCATGACTGCTGACAGCACAGTCCTCACAGGCAGCAGAAGCAGAAGTCCTTTTTCCTTAGCAGAACTCAGACAATTCACTTTTGCAATCTAAGAAGACATTCTTTATTGTTTATTTTGGAGGAAAAAATATATACATATATACATACATCTATATGTACTGATATATACATATACAAACACACACATGTGCCAATATGTACACATTACATACATATATACCTATATGTACAAATATGCATACAAATATGTACGTGTTTCTATATATATGTGTATATACACATATACAAATACGTGACACACACATATATATAAAAAACACATGTGAACATTCAGGGAAGGGCTGTAAAAAAATATCTATAGTTCCATCACTAGGAGTTAAAGTCATTTTAAAATATATTGAATTTCCTTCCAGTGTTGGTGCAAATGTGTTACTTATGTACATGTGTCTGTGTTAAAGAGGGCCTGAGCCCTGCCTACTACCTTCCCTCTTCTTGCCCTCAGGGGTCTTTGAAGGGCTTATCAGAACTTCTGTATTCCAAGAAAAATAGCTTAAAACCACTATTCAAATTATCTGCATTCCCCAAGGAGAGGTAAAGATCACGGGAATGGCTGTTAGAGCCCAAAGTAATTTTTTGGAAGAATGGAAGAAAATACTGATGAAGAAAGGTATGCTCTCTATAGGTATGGAAATCAATTTGCTTGGACAACCCGTATTTTTTTTTTTTTTTTTTTTTGGTCAACTCTGATCATGGCCATTAGCCTCAGCACAGAGCGGTGTGTGATCGCCAACCACCAGACGGGATGAAGGCTTACACTTCCTTATCTCTGTTGAACCCCAAATCTCCAAGCTTCCAACTGAAATTCAGGCAAGAAGACAGAGCCTCCTATGGTTTCTTCAGTTCACCATCCGCTGCAAACTCATGTCATTTCAGGGAGGAAAGAAGAAACAACCTGAGTTCCACACTGTAGAGGGAAGCCCAGGGTAAAAATCTGCATTTGGCCTCTGTCTTGTCTTCCAAGTGCCACAGAATGCTGGGGGCAGGCACTGCTCTCATGGAGGAAGGGCAACTGGGGAAGCTGCAGCATTTAATCCTTTCAGCTCAGTAACTGCCATATGTAATGGCTTCAAAAGCATACCTTCAATGCTTCACCCAGTACTCACAGCTCTGAAATCTGGATGGTTTATAATTAGTAACTGAGTAAGATAAACTTGTTTTGAGTTGTAAGCAGCTCATGGCAGAATTTTAAGGGTGCAAATTAGGTTAACTGTTCCTAGATTTTCACCTAAGATGTTTCCAAGGCACAGACTGGAGATATTTTAGAGTTGGAAGAAACCTGAGAGATCAACTAGTCCAGCTCCTTTGCACTGAAAGAGATTTCCAGAGGTGTTTTCATGAGCCCAAATGACACAGCCAAATCTAAGAGGCCTTTGATTCTAGTCTAGCACTCTTCACATTCAAGCACAACATATGCTTCTTTCATTTTTTCAATTTCTTTGTCAATTAAAGTAAGAAAATGACGGCTAATGGGTTGTGAGCCATCCTGATTTCACTCTTACATAACCTTAATCAAATGTTTGTCTTTATCCAGCATAGAGGTTCTTCTGGAGGAGCACTTTGCAATAAAGATAATGTTCTCATAATATTGTTTGCTTAAAATAAAAAAATTATCTAGCACTTTGGTAGATGCAGCTGGAATTACAAAGAAATCTGAGACTCAAATCTGAAACTAAAACAAATAAAGGGATTCACTTTGGCTGGGAAATGTCCTTCCATGTGCATGTTCATGAGGAGTATGGCTGGTGGAGACAATATCTTAGATTTCCTTCTCCAATCCTGAGATACTGTCTTCACCCTTAACCCCGCGCCCCTGTCATTTTCAGCAGAAACTACTACGAGACCTCACATACACAGAAAACTTAAAATCTTTATATGTTAAA 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Task1_train_23834 | A variant was discovered on Chromosome 17, affecting PMP22 (peripheral myelin protein 22). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Charcot-Marie-Tooth disease, type 1a, with focally folded myelin sheaths | GGAGGCATTGTAAATGAACTCAAGAACATGAGCTTGGCACAGAAGGAACAAGTTGAGAGATAAGAAGTTTCCTGATTAAAATAACCCTAGTGCCTCTTTGAGATCTGCTTCTAGCACCAACTGACAGCTATTTCCAACGGCAGAAGACACCAAATGTCAATCTGTAACATGCTACAGGTCAATATTGCTTTCTTTCCTGCAGATGGTTTAAGCACAACTTAGCAACTCCTCTGCCGCCTCGTTTCTGCTGAAACTTCGCCGGGTTTTAACACGCCTGCCAAAACTGCCCCCTTCCGGGCCCAAGAGTCCAGGATTCTGTGCCAAGCCGCGTGGCCAGATGCCACTTGGGGATGGCGCCTGTGAGCACCAAAGCCTGCCCTTTTCGGGCTGAGTCACTACTTGTAACCACCAGGTGTCAGTAGCGAGTACGGAGACTCCCATCCGGAGTGCTCCGGGAACTTCAGCCAGACCCTAAAGGGGGAGAAACCGGATGCTGTGGCTTTGGGGACAAGCAGTGCTACGGTCACATTCTCAGGCACTCATGAGTATTTCATTTACTCAGTTGCCAACTCACCATGCAAACCCACCACGTAATTTCTGGGATGGCTTTAATTCAATGCCTTTCACACACTCAGAGACAAGATTAAGCACTGTTCTCACTCCAATAGGACTGGGACCTTTTCTCTGCTCCCTCCCCAACCCAGAAGGTAAAAACATAAAGCAGGGTTTTCTACTCCTTGCGTATCTTCTCCATGTAAATTACCAAATTATTATTTTAGCAGTTTCTATTTGTACTGTGGTTCAAGGAATTTGGTTTATAATGCTTCAGCTGGGGACATGCTTGGGTATTACTGGGTACTGAGCTGTAAGAGGGAAAGTCCAGCAAAGCAACTGGATTATGCAAAGCCAGGACCAAAGGCCACTTCACTGCCTGTTTTACTGAACTGGATCTAAACTGGTTTCTCTCGTCTGGTGTAGCATCTTGAACATATATACTGGATCTATGAGTAGCTCCAGCAACATTTAAAGCTGTATTTCCGTGGCCTTTTAAACCCAGGATGTTAGGAAAGCTCTGCTGTATCTCTAGGTCCTTCCAGCCTGAGGACACATCTTCTGGAACAAAAGATCATGTGGATCCAGGTCCACGGGCTCTTAACATCAATCGCTATGGCCTACCCAGCCACCAAAACAGCTCATCCTGTTTACCTCCACCTGTCTGCATCCAAACACACAGGGCTCCTGGCTGGGTGTTCCTTTCCCTCTGGGTGCCTTGGGTACCTAGTTGGTGCTTCTGCTGCCAATTATCCCTTAATTTGACCCTCATGAAGCCTGGCTTCCATATCTCACAAGCAAAGATGCTGAGGACAGAGGAGAAATACGATCTTCTGGATTAAGGACCCCAAGGCTTAGCTTAGGGTTTTGCAAATAGCTTCAAGTCCCCATCTTGCAACAAGGAAACATTCAAAGGTTTTGATGCTAGGTGGCATCACTGAGGCCCAAGACCTGGAAAGGCAGCCAGTCTTGTGTCCATGTAACTGACGGTGCAGTGAGCTAGCCCCACTGTCACTGCAGCAGAAAGGGGCAGGACATTTCTGAATAGAGACAGCCACCAAACCAAAGATACACGTTTGATCCAATGTCCCAAGGGGGTCTGCCAAAGGCTTAGCTATCATACCACCTTCACAGCTCCCAGGTCGATATTTTTTTCAATCACAAAAAGCATTATCCTAAGTGATCAGGAGGGCACTAAGGGCATGTCTCTAGGTAGAGTGAATCACAATGATGCCCAGGATCTCAGCTTCCCCAGCGAGATCACCACCCCTCCCATTTTCCCTGGACTCATGGCTCCCTGTCACATCCCACCCCACCCCAGCAACGACATTCTGGCTTGTGTCTTCCAATAAGCGTTTCCAGCTCTGGGCTGAGAAACGTGTTACAGGCGTCTGAGGACAAGCTCATGGAGCACAAAACCAGCCTCACCGTTTGGTGATGATGAGAAACAGTGGTGGACATTTCCTGAGGAAGAGGTGCTACAGTTCTGCCAGAGATCAGTTGCGTGTCCATTGCCCACGATCCATTGCTAGAGAGAATCAGATAGATATCCTGAGTCAGGGAGGGAGGGAGGAGTGAAGGAAAAGGGGAAGGAGAAAGGCCCAGGGATGGCGAAAAGCACCCGCATCCACCTAGCCACACCGCCCACCCCTGCATGGTAAGAGCCAACGTTTTATGACTTAAAAGCACCTTGTAAATGGAGAAGTTCCACATGCACACAGAAACGATTATGTGCAGAGATGTTTACTATAGTAGAAGGAGCCATGAACTCAACCTTAGACACCTGCATTCAAGCCTTCTCTCCTCCCAGCATCTCGGGATCATTCCCCAAGCCCGCCTCTCTCAGTCTATTTCCTTGTTTATAGCTCCTATCAGTCTGATATCATCATCACCAGGCACAATGGAGATACTGTGAAGATGCTTGTAAATGTTAAACTAAGTCACAAATCCCCAACATAATTATTTCTCACAGAGACTAGAAAATCATGCTTACAGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGCGGATCATGAGGTCAGGAGTTTGAGACAAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCCAGGCTGAGGCAGGAGAATGGCTTGAACCCGGAAGGCAGAGGTTGCAGTAAGCCAAGATCATGGCACTGCACTCCAGCCCGGGTGACAGGCTGGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAACGAAAAAGAAAATCATGCTTACAATGTGCCTTAAATTAAGAAGTGAAAGCCACCACTGGAAAACTGCCTGAATGTCTGCTCATCTTCATCGCCAAGAAAATAACTTTAAGATCTAATGGGCTGGACAGTTTTGTAACAGAAGTTACTCTGATGGCCTGTTCCTACCAGTGGAAGCTTTACTAACAATGTGTTGTGTTCATGCCATAAAGCCGACATGGGACCTGTGAACTCTTTTCCAGAAAAGCCCATTTTAACTTTCCAATTTCAAGTCCTAAAAGGGTGTTTTATAAATTAATTCACCCATCTGACTATGGTTTGGAGAAAAAAAAATCATAAATACTCCTCTTCTTCAACGAGGCTGCATCAAGAAAAAAAAAAGTTAAACAATCTTGTCAAATGAAGGTCGGGGACCCTAGATCGGCTCTGAAGTTACTTGGCTTAAATAGAGACCTGCGCAGCTAACCCAGCCCAGCGCTCGCTTGGTTCCTATCACTGAATCTGCTCTCGTTTTCTCAAAGCAACTGGAAGGGGGCAGATTGCCAGAAACTTCCCTGGGACGTCTGAGACTTCCAACTGTCTGCAAATAACACAGTCCTGAACCAGCAGGAGCACGGGCTGGGAACCCAGATGGGGAAGGGCGGGCCGCGCAGGGAGCCTCCCCGCCAGGCACTCACGCTGACGATCGTGGAGACGAACAGCAGCACCAGCACCGCGACGTGGAGGACGATGATACTCAGCAACAGGAGGAGCATTCTGGCGGCAAGTTCTGCTCAGCGGAGTTTCTGCCTGCGAGGAGAGCGCTGGGCGTGAGGCCGAACGCACTGGGCCGAGCGACGGAGGCGCGCGCAGAGGGAGGGTCCCGCGCACTAGCGGAAGGCCCGGCCTGGCCCAGCGCCCGCAGCCCGACCGCCCGCGCGGGTCAGGAGCCTTCGCGCCGCCTGCCGCCGAGAGGGGGCAGCAGCCGCCTGCAGGACCAGCGCCCAGTGCCCAGCGCCCAGCCGGGCCCGCCTGCAACGGAACATCTTTTGCTTTTGGAAACAAAACAAGCGGTTCGCACGTCTAAAACCACCCAGGGAACGGAGGGGTTTCCAGAAAATATGAGCAGAGGCCACTGCACGCTTCCACCCACCCCAAGCACCTCCCGGCGACCTCCCTGGAAGGTGAGAGGTCACGTTCTCCGAGACCCCGGTTCAGATGGTGAATTCCCCTATGGGGTGGAGGTAGGGGTGAGGGG 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GGAGGCATTGTAAATGAACTCAAGAACATGAGCTTGGCACAGAAGGAACAAGTTGAGAGATAAGAAGTTTCCTGATTAAAATAACCCTAGTGCCTCTTTGAGATCTGCTTCTAGCACCAACTGACAGCTATTTCCAACGGCAGAAGACACCAAATGTCAATCTGTAACATGCTACAGGTCAATATTGCTTTCTTTCCTGCAGATGGTTTAAGCACAACTTAGCAACTCCTCTGCCGCCTCGTTTCTGCTGAAACTTCGCCGGGTTTTAACACGCCTGCCAAAACTGCCCCCTTCCGGGCCCAAGAGTCCAGGATTCTGTGCCAAGCCGCGTGGCCAGATGCCACTTGGGGATGGCGCCTGTGAGCACCAAAGCCTGCCCTTTTCGGGCTGAGTCACTACTTGTAACCACCAGGTGTCAGTAGCGAGTACGGAGACTCCCATCCGGAGTGCTCCGGGAACTTCAGCCAGACCCTAAAGGGGGAGAAACCGGATGCTGTGGCTTTGGGGACAAGCAGTGCTACGGTCACATTCTCAGGCACTCATGAGTATTTCATTTACTCAGTTGCCAACTCACCATGCAAACCCACCACGTAATTTCTGGGATGGCTTTAATTCAATGCCTTTCACACACTCAGAGACAAGATTAAGCACTGTTCTCACTCCAATAGGACTGGGACCTTTTCTCTGCTCCCTCCCCAACCCAGAAGGTAAAAACATAAAGCAGGGTTTTCTACTCCTTGCGTATCTTCTCCATGTAAATTACCAAATTATTATTTTAGCAGTTTCTATTTGTACTGTGGTTCAAGGAATTTGGTTTATAATGCTTCAGCTGGGGACATGCTTGGGTATTACTGGGTACTGAGCTGTAAGAGGGAAAGTCCAGCAAAGCAACTGGATTATGCAAAGCCAGGACCAAAGGCCACTTCACTGCCTGTTTTACTGAACTGGATCTAAACTGGTTTCTCTCGTCTGGTGTAGCATCTTGAACATATATACTGGATCTATGAGTAGCTCCAGCAACATTTAAAGCTGTATTTCCGTGGCCTTTTAAACCCAGGATGTTAGGAAAGCTCTGCTGTATCTCTAGGTCCTTCCAGCCTGAGGACACATCTTCTGGAACAAAAGATCATGTGGATCCAGGTCCACGGGCTCTTAACATCAATCGCTATGGCCTACCCAGCCACCAAAACAGCTCATCCTGTTTACCTCCACCTGTCTGCATCCAAACACACAGGGCTCCTGGCTGGGTGTTCCTTTCCCTCTGGGTGCCTTGGGTACCTAGTTGGTGCTTCTGCTGCCAATTATCCCTTAATTTGACCCTCATGAAGCCTGGCTTCCATATCTCACAAGCAAAGATGCTGAGGACAGAGGAGAAATACGATCTTCTGGATTAAGGACCCCAAGGCTTAGCTTAGGGTTTTGCAAATAGCTTCAAGTCCCCATCTTGCAACAAGGAAACATTCAAAGGTTTTGATGCTAGGTGGCATCACTGAGGCCCAAGACCTGGAAAGGCAGCCAGTCTTGTGTCCATGTAACTGACGGTGCAGTGAGCTAGCCCCACTGTCACTGCAGCAGAAAGGGGCAGGACATTTCTGAATAGAGACAGCCACCAAACCAAAGATACACGTTTGATCCAATGTCCCAAGGGGGTCTGCCAAAGGCTTAGCTATCATACCACCTTCACAGCTCCCAGGTCGATATTTTTTTCAATCACAAAAAGCATTATCCTAAGTGATCAGGAGGGCACTAAGGGCATGTCTCTAGGTAGAGTGAATCACAATGATGCCCAGGATCTCAGCTTCCCCAGCGAGATCACCACCCCTCCCATTTTCCCTGGACTCATGGCTCCCTGTCACATCCCACCCCACCCCAGCAACGACATTCTGGCTTGTGTCTTCCAATAAGCGTTTCCAGCTCTGGGCTGAGAAACGTGTTACAGGCGTCTGAGGACAAGCTCATGGAGCACAAAACCAGCCTCACCGTTTGGTGATGATGAGAAACAGTGGTGGACATTTCCTGAGGAAGAGGTGCTACAGTTCTGCCAGAGAACAGTTGCGTGTCCATTGCCCACGATCCATTGCTAGAGAGAATCAGATAGATATCCTGAGTCAGGGAGGGAGGGAGGAGTGAAGGAAAAGGGGAAGGAGAAAGGCCCAGGGATGGCGAAAAGCACCCGCATCCACCTAGCCACACCGCCCACCCCTGCATGGTAAGAGCCAACGTTTTATGACTTAAAAGCACCTTGTAAATGGAGAAGTTCCACATGCACACAGAAACGATTATGTGCAGAGATGTTTACTATAGTAGAAGGAGCCATGAACTCAACCTTAGACACCTGCATTCAAGCCTTCTCTCCTCCCAGCATCTCGGGATCATTCCCCAAGCCCGCCTCTCTCAGTCTATTTCCTTGTTTATAGCTCCTATCAGTCTGATATCATCATCACCAGGCACAATGGAGATACTGTGAAGATGCTTGTAAATGTTAAACTAAGTCACAAATCCCCAACATAATTATTTCTCACAGAGACTAGAAAATCATGCTTACAGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGCGGATCATGAGGTCAGGAGTTTGAGACAAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCCAGGCTGAGGCAGGAGAATGGCTTGAACCCGGAAGGCAGAGGTTGCAGTAAGCCAAGATCATGGCACTGCACTCCAGCCCGGGTGACAGGCTGGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAACGAAAAAGAAAATCATGCTTACAATGTGCCTTAAATTAAGAAGTGAAAGCCACCACTGGAAAACTGCCTGAATGTCTGCTCATCTTCATCGCCAAGAAAATAACTTTAAGATCTAATGGGCTGGACAGTTTTGTAACAGAAGTTACTCTGATGGCCTGTTCCTACCAGTGGAAGCTTTACTAACAATGTGTTGTGTTCATGCCATAAAGCCGACATGGGACCTGTGAACTCTTTTCCAGAAAAGCCCATTTTAACTTTCCAATTTCAAGTCCTAAAAGGGTGTTTTATAAATTAATTCACCCATCTGACTATGGTTTGGAGAAAAAAAAATCATAAATACTCCTCTTCTTCAACGAGGCTGCATCAAGAAAAAAAAAAGTTAAACAATCTTGTCAAATGAAGGTCGGGGACCCTAGATCGGCTCTGAAGTTACTTGGCTTAAATAGAGACCTGCGCAGCTAACCCAGCCCAGCGCTCGCTTGGTTCCTATCACTGAATCTGCTCTCGTTTTCTCAAAGCAACTGGAAGGGGGCAGATTGCCAGAAACTTCCCTGGGACGTCTGAGACTTCCAACTGTCTGCAAATAACACAGTCCTGAACCAGCAGGAGCACGGGCTGGGAACCCAGATGGGGAAGGGCGGGCCGCGCAGGGAGCCTCCCCGCCAGGCACTCACGCTGACGATCGTGGAGACGAACAGCAGCACCAGCACCGCGACGTGGAGGACGATGATACTCAGCAACAGGAGGAGCATTCTGGCGGCAAGTTCTGCTCAGCGGAGTTTCTGCCTGCGAGGAGAGCGCTGGGCGTGAGGCCGAACGCACTGGGCCGAGCGACGGAGGCGCGCGCAGAGGGAGGGTCCCGCGCACTAGCGGAAGGCCCGGCCTGGCCCAGCGCCCGCAGCCCGACCGCCCGCGCGGGTCAGGAGCCTTCGCGCCGCCTGCCGCCGAGAGGGGGCAGCAGCCGCCTGCAGGACCAGCGCCCAGTGCCCAGCGCCCAGCCGGGCCCGCCTGCAACGGAACATCTTTTGCTTTTGGAAACAAAACAAGCGGTTCGCACGTCTAAAACCACCCAGGGAACGGAGGGGTTTCCAGAAAATATGAGCAGAGGCCACTGCACGCTTCCACCCACCCCAAGCACCTCCCGGCGACCTCCCTGGAAGGTGAGAGGTCACGTTCTCCGAGACCCCGGTTCAGATGGTGAATTCCCCTATGGGGTGGAGGTAGGGGTGAGGGG 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Task1_train_23835 | This variant lies on Chromosome 17 and affects the gene PMP22 (peripheral myelin protein 22). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hereditary liability to pressure palsies | ACCTGGAAAGGCAGCCAGTCTTGTGTCCATGTAACTGACGGTGCAGTGAGCTAGCCCCACTGTCACTGCAGCAGAAAGGGGCAGGACATTTCTGAATAGAGACAGCCACCAAACCAAAGATACACGTTTGATCCAATGTCCCAAGGGGGTCTGCCAAAGGCTTAGCTATCATACCACCTTCACAGCTCCCAGGTCGATATTTTTTTCAATCACAAAAAGCATTATCCTAAGTGATCAGGAGGGCACTAAGGGCATGTCTCTAGGTAGAGTGAATCACAATGATGCCCAGGATCTCAGCTTCCCCAGCGAGATCACCACCCCTCCCATTTTCCCTGGACTCATGGCTCCCTGTCACATCCCACCCCACCCCAGCAACGACATTCTGGCTTGTGTCTTCCAATAAGCGTTTCCAGCTCTGGGCTGAGAAACGTGTTACAGGCGTCTGAGGACAAGCTCATGGAGCACAAAACCAGCCTCACCGTTTGGTGATGATGAGAAACAGTGGTGGACATTTCCTGAGGAAGAGGTGCTACAGTTCTGCCAGAGATCAGTTGCGTGTCCATTGCCCACGATCCATTGCTAGAGAGAATCAGATAGATATCCTGAGTCAGGGAGGGAGGGAGGAGTGAAGGAAAAGGGGAAGGAGAAAGGCCCAGGGATGGCGAAAAGCACCCGCATCCACCTAGCCACACCGCCCACCCCTGCATGGTAAGAGCCAACGTTTTATGACTTAAAAGCACCTTGTAAATGGAGAAGTTCCACATGCACACAGAAACGATTATGTGCAGAGATGTTTACTATAGTAGAAGGAGCCATGAACTCAACCTTAGACACCTGCATTCAAGCCTTCTCTCCTCCCAGCATCTCGGGATCATTCCCCAAGCCCGCCTCTCTCAGTCTATTTCCTTGTTTATAGCTCCTATCAGTCTGATATCATCATCACCAGGCACAATGGAGATACTGTGAAGATGCTTGTAAATGTTAAACTAAGTCACAAATCCCCAACATAATTATTTCTCACAGAGACTAGAAAATCATGCTTACAGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGCGGATCATGAGGTCAGGAGTTTGAGACAAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCCAGGCTGAGGCAGGAGAATGGCTTGAACCCGGAAGGCAGAGGTTGCAGTAAGCCAAGATCATGGCACTGCACTCCAGCCCGGGTGACAGGCTGGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAACGAAAAAGAAAATCATGCTTACAATGTGCCTTAAATTAAGAAGTGAAAGCCACCACTGGAAAACTGCCTGAATGTCTGCTCATCTTCATCGCCAAGAAAATAACTTTAAGATCTAATGGGCTGGACAGTTTTGTAACAGAAGTTACTCTGATGGCCTGTTCCTACCAGTGGAAGCTTTACTAACAATGTGTTGTGTTCATGCCATAAAGCCGACATGGGACCTGTGAACTCTTTTCCAGAAAAGCCCATTTTAACTTTCCAATTTCAAGTCCTAAAAGGGTGTTTTATAAATTAATTCACCCATCTGACTATGGTTTGGAGAAAAAAAAATCATAAATACTCCTCTTCTTCAACGAGGCTGCATCAAGAAAAAAAAAAGTTAAACAATCTTGTCAAATGAAGGTCGGGGACCCTAGATCGGCTCTGAAGTTACTTGGCTTAAATAGAGACCTGCGCAGCTAACCCAGCCCAGCGCTCGCTTGGTTCCTATCACTGAATCTGCTCTCGTTTTCTCAAAGCAACTGGAAGGGGGCAGATTGCCAGAAACTTCCCTGGGACGTCTGAGACTTCCAACTGTCTGCAAATAACACAGTCCTGAACCAGCAGGAGCACGGGCTGGGAACCCAGATGGGGAAGGGCGGGCCGCGCAGGGAGCCTCCCCGCCAGGCACTCACGCTGACGATCGTGGAGACGAACAGCAGCACCAGCACCGCGACGTGGAGGACGATGATACTCAGCAACAGGAGGAGCATTCTGGCGGCAAGTTCTGCTCAGCGGAGTTTCTGCCTGCGAGGAGAGCGCTGGGCGTGAGGCCGAACGCACTGGGCCGAGCGACGGAGGCGCGCGCAGAGGGAGGGTCCCGCGCACTAGCGGAAGGCCCGGCCTGGCCCAGCGCCCGCAGCCCGACCGCCCGCGCGGGTCAGGAGCCTTCGCGCCGCCTGCCGCCGAGAGGGGGCAGCAGCCGCCTGCAGGACCAGCGCCCAGTGCCCAGCGCCCAGCCGGGCCCGCCTGCAACGGAACATCTTTTGCTTTTGGAAACAAAACAAGCGGTTCGCACGTCTAAAACCACCCAGGGAACGGAGGGGTTTCCAGAAAATATGAGCAGAGGCCACTGCACGCTTCCACCCACCCCAAGCACCTCCCGGCGACCTCCCTGGAAGGTGAGAGGTCACGTTCTCCGAGACCCCGGTTCAGATGGTGAATTCCCCTATGGGGTGGAGGTAGGGGTGAGGGGAGTAGGTGCCCAGATTTCCGTCTGAGACCTGGAGACAGCCGTGGCATGCGGTGGGGGAGACAGCGGCGAGGAGGCTGGTTTCCCAGACCCCAGTGCTCTCCGCATTCCGTTTGTCTCCAAGTTTCCACCCAACTCTGCCAGCGTAGAGGAACGGTCCTGGCCCCAGCTCAGCCTCGCGCAGACTCTGGCGGCTCCGGAGAGGTGGTGCAGAGCCAGAGTAGTGTGGAAAGAAAAGAATGGCTCGAGAGGGTTGCCCGGACCCTGCGCTTCCCGTCCACCGCGCGCTTCCCCAGGCAGCCCCTGGGGTCAGGGGGCATTCTGCTCTTGCGCTAGACCCACGTGCTCGCCTAGGGGTCCAGTCTGCACCCCAGGCACTCAAAGCCAGGACACGAACCCCAACAAGCCTGAGCTCCGGTCTGGGTGCGGTGGGACAGGAGCCCAGGAGCCTGGACCGAAGGGAGTAGATGTCCAGCGGACGGGAGAGAGAGACAGAGGGTAAAAGGCTGAGTCCGAGAATTTCAGCCGGTCAGAGCCGGCAGGACATTTATCCCAAGTAATGCGGTCCTCGCCCCTCATTTTAAACTTTGGGGGAACTGAAGGCTGGGATGACCTGTTAGAGGACATGCATGGCTGTGAAAGATCTGGCTGAGACTCTGGGGACCATTTTAGGCAGAGTCTTGGGCCAGGGAGACAACGTTTCAATAACCCAGTTTGGAAAGTACCCAATCCCAGGCCCCTCTGTTCCTCTCCACAAGCATCACATTCAAAGAAACTCTGGAATGCACTGGAAGAAATAAACAAGGATTTCTGATGACTCCCAGAGGGTTTGAATTAAGCCGATGGCAGGAGGCTGGGAACTGGGGAACCACAGGAGTCCAACACTCTCGGGATGTCCGCCACAGGGACTGTTTTGCCAGTGTGTCCCAGAGTCAACGCCTCTTCAGCAAGGCGAGAACTGGGCCGCCCTTATCCGCTATCCAGACACCAGCACCATCACCCTTGCCCTGTAAGGTCTTATAGACCATAAAGGCTCTCCTCGTTGTATTACTCCAAGACCCATTGGAGGGAAACAGGACACACAGGGGACCCTGTGCCCCTAAACAGAAGCCCCAGGGAGCTGGCCAAAGCCCCGCGCCTGCGCTGCGCTTTCTGGCACCCTCACTGGAAGATGCCCACATTTCTCCTCCATCTCCTTCACTCTCCCCACCAAATCACTTACAGCCCAAAGGAACAGCTGTCCCGATCCTCAGGGTGGCCTCAAACACAAACTCGGGTGCGTTGGCTCCGCTGCTGGCGCCGCCAAAGCTGCGCTGCGGGGCTGCGCGCGCGCGAAGCAAGGGGGCAGTGGGAGGCTCCTGGCGTTCCCCTTTAACGGGAACAACGCCCTGTTTGCGTCGCTGCAGTAGGGTGTGTCCCTGGGTCAGCGTGTGCGGGAGGGCGGGACTCAGGGAGGAGAGGGGGCAGGAGAGAGGGAGGGCAGGAGACAGTCACTTGGCCTTAA 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ACCTGGAAAGGCAGCCAGTCTTGTGTCCATGTAACTGACGGTGCAGTGAGCTAGCCCCACTGTCACTGCAGCAGAAAGGGGCAGGACATTTCTGAATAGAGACAGCCACCAAACCAAAGATACACGTTTGATCCAATGTCCCAAGGGGGTCTGCCAAAGGCTTAGCTATCATACCACCTTCACAGCTCCCAGGTCGATATTTTTTTCAATCACAAAAAGCATTATCCTAAGTGATCAGGAGGGCACTAAGGGCATGTCTCTAGGTAGAGTGAATCACAATGATGCCCAGGATCTCAGCTTCCCCAGCGAGATCACCACCCCTCCCATTTTCCCTGGACTCATGGCTCCCTGTCACATCCCACCCCACCCCAGCAACGACATTCTGGCTTGTGTCTTCCAATAAGCGTTTCCAGCTCTGGGCTGAGAAACGTGTTACAGGCGTCTGAGGACAAGCTCATGGAGCACAAAACCAGCCTCACCGTTTGGTGATGATGAGAAACAGTGGTGGACATTTCCTGAGGAAGAGGTGCTACAGTTCTGCCAGAGATCAGTTGCGTGTCCATTGCCCACGATCCATTGCTAGAGAGAATCAGATAGATATCCTGAGTCAGGGAGGGAGGGAGGAGTGAAGGAAAAGGGGAAGGAGAAAGGCCCAGGGATGGCGAAAAGCACCCGCATCCACCTAGCCACACCGCCCACCCCTGCATGGTAAGAGCCAACGTTTTATGACTTAAAAGCACCTTGTAAATGGAGAAGTTCCACATGCACACAGAAACGATTATGTGCAGAGATGTTTACTATAGTAGAAGGAGCCATGAACTCAACCTTAGACACCTGCATTCAAGCCTTCTCTCCTCCCAGCATCTCGGGATCATTCCCCAAGCCCGCCTCTCTCAGTCTATTTCCTTGTTTATAGCTCCTATCAGTCTGATATCATCATCACCAGGCACAATGGAGATACTGTGAAGATGCTTGTAAATGTTAAACTAAGTCACAAATCCCCAACATAATTATTTCTCACAGAGACTAGAAAATCATGCTTACAGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGCGGATCATGAGGTCAGGAGTTTGAGACAAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCCAGGCTGAGGCAGGAGAATGGCTTGAACCCGGAAGGCAGAGGTTGCAGTAAGCCAAGATCATGGCACTGCACTCCAGCCCGGGTGACAGGCTGGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAACGAAAAAGAAAATCATGCTTACAATGTGCCTTAAATTAAGAAGTGAAAGCCACCACTGGAAAACTGCCTGAATGTCTGCTCATCTTCATCGCCAAGAAAATAACTTTAAGATCTAATGGGCTGGACAGTTTTGTAACAGAAGTTACTCTGATGGCCTGTTCCTACCAGTGGAAGCTTTACTAACAATGTGTTGTGTTCATGCCATAAAGCCGACATGGGACCTGTGAACTCTTTTCCAGAAAAGCCCATTTTAACTTTCCAATTTCAAGTCCTAAAAGGGTGTTTTATAAATTAATTCACCCATCTGACTATGGTTTGGAGAAAAAAAAATCATAAATACTCCTCTTCTTCAACGAGGCTGCATCAAGAAAAAAAAAAGTTAAACAATCTTGTCAAATGAAGGTCGGGGACCCTAGATCGGCTCTGAAGTTACTTGGCTTAAATAGAGACCTGCGCAGCTAACCCAGCCCAGCGCTCGCTTGGTTCCTATCACTGAATCTGCTCTCGTTTTCTCAAAGCAACTGGAAGGGGGCAGATTGCCAGAAACTTCCCTGGGACGTCTGAGACTTCCAACTGTCTGCAAATAACACAGTCCTGAACCAGCAGGAGCACGGGCTGGGAACCCAGATGGGGAAGGGCGGGCCGCGCAGGGAGCCTCCCCGCCAGGCACTCACGCTGACGATCGTGAAGACGAACAGCAGCACCAGCACCGCGACGTGGAGGACGATGATACTCAGCAACAGGAGGAGCATTCTGGCGGCAAGTTCTGCTCAGCGGAGTTTCTGCCTGCGAGGAGAGCGCTGGGCGTGAGGCCGAACGCACTGGGCCGAGCGACGGAGGCGCGCGCAGAGGGAGGGTCCCGCGCACTAGCGGAAGGCCCGGCCTGGCCCAGCGCCCGCAGCCCGACCGCCCGCGCGGGTCAGGAGCCTTCGCGCCGCCTGCCGCCGAGAGGGGGCAGCAGCCGCCTGCAGGACCAGCGCCCAGTGCCCAGCGCCCAGCCGGGCCCGCCTGCAACGGAACATCTTTTGCTTTTGGAAACAAAACAAGCGGTTCGCACGTCTAAAACCACCCAGGGAACGGAGGGGTTTCCAGAAAATATGAGCAGAGGCCACTGCACGCTTCCACCCACCCCAAGCACCTCCCGGCGACCTCCCTGGAAGGTGAGAGGTCACGTTCTCCGAGACCCCGGTTCAGATGGTGAATTCCCCTATGGGGTGGAGGTAGGGGTGAGGGGAGTAGGTGCCCAGATTTCCGTCTGAGACCTGGAGACAGCCGTGGCATGCGGTGGGGGAGACAGCGGCGAGGAGGCTGGTTTCCCAGACCCCAGTGCTCTCCGCATTCCGTTTGTCTCCAAGTTTCCACCCAACTCTGCCAGCGTAGAGGAACGGTCCTGGCCCCAGCTCAGCCTCGCGCAGACTCTGGCGGCTCCGGAGAGGTGGTGCAGAGCCAGAGTAGTGTGGAAAGAAAAGAATGGCTCGAGAGGGTTGCCCGGACCCTGCGCTTCCCGTCCACCGCGCGCTTCCCCAGGCAGCCCCTGGGGTCAGGGGGCATTCTGCTCTTGCGCTAGACCCACGTGCTCGCCTAGGGGTCCAGTCTGCACCCCAGGCACTCAAAGCCAGGACACGAACCCCAACAAGCCTGAGCTCCGGTCTGGGTGCGGTGGGACAGGAGCCCAGGAGCCTGGACCGAAGGGAGTAGATGTCCAGCGGACGGGAGAGAGAGACAGAGGGTAAAAGGCTGAGTCCGAGAATTTCAGCCGGTCAGAGCCGGCAGGACATTTATCCCAAGTAATGCGGTCCTCGCCCCTCATTTTAAACTTTGGGGGAACTGAAGGCTGGGATGACCTGTTAGAGGACATGCATGGCTGTGAAAGATCTGGCTGAGACTCTGGGGACCATTTTAGGCAGAGTCTTGGGCCAGGGAGACAACGTTTCAATAACCCAGTTTGGAAAGTACCCAATCCCAGGCCCCTCTGTTCCTCTCCACAAGCATCACATTCAAAGAAACTCTGGAATGCACTGGAAGAAATAAACAAGGATTTCTGATGACTCCCAGAGGGTTTGAATTAAGCCGATGGCAGGAGGCTGGGAACTGGGGAACCACAGGAGTCCAACACTCTCGGGATGTCCGCCACAGGGACTGTTTTGCCAGTGTGTCCCAGAGTCAACGCCTCTTCAGCAAGGCGAGAACTGGGCCGCCCTTATCCGCTATCCAGACACCAGCACCATCACCCTTGCCCTGTAAGGTCTTATAGACCATAAAGGCTCTCCTCGTTGTATTACTCCAAGACCCATTGGAGGGAAACAGGACACACAGGGGACCCTGTGCCCCTAAACAGAAGCCCCAGGGAGCTGGCCAAAGCCCCGCGCCTGCGCTGCGCTTTCTGGCACCCTCACTGGAAGATGCCCACATTTCTCCTCCATCTCCTTCACTCTCCCCACCAAATCACTTACAGCCCAAAGGAACAGCTGTCCCGATCCTCAGGGTGGCCTCAAACACAAACTCGGGTGCGTTGGCTCCGCTGCTGGCGCCGCCAAAGCTGCGCTGCGGGGCTGCGCGCGCGCGAAGCAAGGGGGCAGTGGGAGGCTCCTGGCGTTCCCCTTTAACGGGAACAACGCCCTGTTTGCGTCGCTGCAGTAGGGTGTGTCCCTGGGTCAGCGTGTGCGGGAGGGCGGGACTCAGGGAGGAGAGGGGGCAGGAGAGAGGGAGGGCAGGAGACAGTCACTTGGCCTTAA 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Task1_train_23836 | An alteration has been detected in PMP22 (peripheral myelin protein 22) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Charcot-Marie-Tooth disease, type IA | ACCTGGAAAGGCAGCCAGTCTTGTGTCCATGTAACTGACGGTGCAGTGAGCTAGCCCCACTGTCACTGCAGCAGAAAGGGGCAGGACATTTCTGAATAGAGACAGCCACCAAACCAAAGATACACGTTTGATCCAATGTCCCAAGGGGGTCTGCCAAAGGCTTAGCTATCATACCACCTTCACAGCTCCCAGGTCGATATTTTTTTCAATCACAAAAAGCATTATCCTAAGTGATCAGGAGGGCACTAAGGGCATGTCTCTAGGTAGAGTGAATCACAATGATGCCCAGGATCTCAGCTTCCCCAGCGAGATCACCACCCCTCCCATTTTCCCTGGACTCATGGCTCCCTGTCACATCCCACCCCACCCCAGCAACGACATTCTGGCTTGTGTCTTCCAATAAGCGTTTCCAGCTCTGGGCTGAGAAACGTGTTACAGGCGTCTGAGGACAAGCTCATGGAGCACAAAACCAGCCTCACCGTTTGGTGATGATGAGAAACAGTGGTGGACATTTCCTGAGGAAGAGGTGCTACAGTTCTGCCAGAGATCAGTTGCGTGTCCATTGCCCACGATCCATTGCTAGAGAGAATCAGATAGATATCCTGAGTCAGGGAGGGAGGGAGGAGTGAAGGAAAAGGGGAAGGAGAAAGGCCCAGGGATGGCGAAAAGCACCCGCATCCACCTAGCCACACCGCCCACCCCTGCATGGTAAGAGCCAACGTTTTATGACTTAAAAGCACCTTGTAAATGGAGAAGTTCCACATGCACACAGAAACGATTATGTGCAGAGATGTTTACTATAGTAGAAGGAGCCATGAACTCAACCTTAGACACCTGCATTCAAGCCTTCTCTCCTCCCAGCATCTCGGGATCATTCCCCAAGCCCGCCTCTCTCAGTCTATTTCCTTGTTTATAGCTCCTATCAGTCTGATATCATCATCACCAGGCACAATGGAGATACTGTGAAGATGCTTGTAAATGTTAAACTAAGTCACAAATCCCCAACATAATTATTTCTCACAGAGACTAGAAAATCATGCTTACAGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGCGGATCATGAGGTCAGGAGTTTGAGACAAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCCAGGCTGAGGCAGGAGAATGGCTTGAACCCGGAAGGCAGAGGTTGCAGTAAGCCAAGATCATGGCACTGCACTCCAGCCCGGGTGACAGGCTGGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAACGAAAAAGAAAATCATGCTTACAATGTGCCTTAAATTAAGAAGTGAAAGCCACCACTGGAAAACTGCCTGAATGTCTGCTCATCTTCATCGCCAAGAAAATAACTTTAAGATCTAATGGGCTGGACAGTTTTGTAACAGAAGTTACTCTGATGGCCTGTTCCTACCAGTGGAAGCTTTACTAACAATGTGTTGTGTTCATGCCATAAAGCCGACATGGGACCTGTGAACTCTTTTCCAGAAAAGCCCATTTTAACTTTCCAATTTCAAGTCCTAAAAGGGTGTTTTATAAATTAATTCACCCATCTGACTATGGTTTGGAGAAAAAAAAATCATAAATACTCCTCTTCTTCAACGAGGCTGCATCAAGAAAAAAAAAAGTTAAACAATCTTGTCAAATGAAGGTCGGGGACCCTAGATCGGCTCTGAAGTTACTTGGCTTAAATAGAGACCTGCGCAGCTAACCCAGCCCAGCGCTCGCTTGGTTCCTATCACTGAATCTGCTCTCGTTTTCTCAAAGCAACTGGAAGGGGGCAGATTGCCAGAAACTTCCCTGGGACGTCTGAGACTTCCAACTGTCTGCAAATAACACAGTCCTGAACCAGCAGGAGCACGGGCTGGGAACCCAGATGGGGAAGGGCGGGCCGCGCAGGGAGCCTCCCCGCCAGGCACTCACGCTGACGATCGTGGAGACGAACAGCAGCACCAGCACCGCGACGTGGAGGACGATGATACTCAGCAACAGGAGGAGCATTCTGGCGGCAAGTTCTGCTCAGCGGAGTTTCTGCCTGCGAGGAGAGCGCTGGGCGTGAGGCCGAACGCACTGGGCCGAGCGACGGAGGCGCGCGCAGAGGGAGGGTCCCGCGCACTAGCGGAAGGCCCGGCCTGGCCCAGCGCCCGCAGCCCGACCGCCCGCGCGGGTCAGGAGCCTTCGCGCCGCCTGCCGCCGAGAGGGGGCAGCAGCCGCCTGCAGGACCAGCGCCCAGTGCCCAGCGCCCAGCCGGGCCCGCCTGCAACGGAACATCTTTTGCTTTTGGAAACAAAACAAGCGGTTCGCACGTCTAAAACCACCCAGGGAACGGAGGGGTTTCCAGAAAATATGAGCAGAGGCCACTGCACGCTTCCACCCACCCCAAGCACCTCCCGGCGACCTCCCTGGAAGGTGAGAGGTCACGTTCTCCGAGACCCCGGTTCAGATGGTGAATTCCCCTATGGGGTGGAGGTAGGGGTGAGGGGAGTAGGTGCCCAGATTTCCGTCTGAGACCTGGAGACAGCCGTGGCATGCGGTGGGGGAGACAGCGGCGAGGAGGCTGGTTTCCCAGACCCCAGTGCTCTCCGCATTCCGTTTGTCTCCAAGTTTCCACCCAACTCTGCCAGCGTAGAGGAACGGTCCTGGCCCCAGCTCAGCCTCGCGCAGACTCTGGCGGCTCCGGAGAGGTGGTGCAGAGCCAGAGTAGTGTGGAAAGAAAAGAATGGCTCGAGAGGGTTGCCCGGACCCTGCGCTTCCCGTCCACCGCGCGCTTCCCCAGGCAGCCCCTGGGGTCAGGGGGCATTCTGCTCTTGCGCTAGACCCACGTGCTCGCCTAGGGGTCCAGTCTGCACCCCAGGCACTCAAAGCCAGGACACGAACCCCAACAAGCCTGAGCTCCGGTCTGGGTGCGGTGGGACAGGAGCCCAGGAGCCTGGACCGAAGGGAGTAGATGTCCAGCGGACGGGAGAGAGAGACAGAGGGTAAAAGGCTGAGTCCGAGAATTTCAGCCGGTCAGAGCCGGCAGGACATTTATCCCAAGTAATGCGGTCCTCGCCCCTCATTTTAAACTTTGGGGGAACTGAAGGCTGGGATGACCTGTTAGAGGACATGCATGGCTGTGAAAGATCTGGCTGAGACTCTGGGGACCATTTTAGGCAGAGTCTTGGGCCAGGGAGACAACGTTTCAATAACCCAGTTTGGAAAGTACCCAATCCCAGGCCCCTCTGTTCCTCTCCACAAGCATCACATTCAAAGAAACTCTGGAATGCACTGGAAGAAATAAACAAGGATTTCTGATGACTCCCAGAGGGTTTGAATTAAGCCGATGGCAGGAGGCTGGGAACTGGGGAACCACAGGAGTCCAACACTCTCGGGATGTCCGCCACAGGGACTGTTTTGCCAGTGTGTCCCAGAGTCAACGCCTCTTCAGCAAGGCGAGAACTGGGCCGCCCTTATCCGCTATCCAGACACCAGCACCATCACCCTTGCCCTGTAAGGTCTTATAGACCATAAAGGCTCTCCTCGTTGTATTACTCCAAGACCCATTGGAGGGAAACAGGACACACAGGGGACCCTGTGCCCCTAAACAGAAGCCCCAGGGAGCTGGCCAAAGCCCCGCGCCTGCGCTGCGCTTTCTGGCACCCTCACTGGAAGATGCCCACATTTCTCCTCCATCTCCTTCACTCTCCCCACCAAATCACTTACAGCCCAAAGGAACAGCTGTCCCGATCCTCAGGGTGGCCTCAAACACAAACTCGGGTGCGTTGGCTCCGCTGCTGGCGCCGCCAAAGCTGCGCTGCGGGGCTGCGCGCGCGCGAAGCAAGGGGGCAGTGGGAGGCTCCTGGCGTTCCCCTTTAACGGGAACAACGCCCTGTTTGCGTCGCTGCAGTAGGGTGTGTCCCTGGGTCAGCGTGTGCGGGAGGGCGGGACTCAGGGAGGAGAGGGGGCAGGAGAGAGGGAGGGCAGGAGACAGTCACTTGGCCTTAA 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ACCTGGAAAGGCAGCCAGTCTTGTGTCCATGTAACTGACGGTGCAGTGAGCTAGCCCCACTGTCACTGCAGCAGAAAGGGGCAGGACATTTCTGAATAGAGACAGCCACCAAACCAAAGATACACGTTTGATCCAATGTCCCAAGGGGGTCTGCCAAAGGCTTAGCTATCATACCACCTTCACAGCTCCCAGGTCGATATTTTTTTCAATCACAAAAAGCATTATCCTAAGTGATCAGGAGGGCACTAAGGGCATGTCTCTAGGTAGAGTGAATCACAATGATGCCCAGGATCTCAGCTTCCCCAGCGAGATCACCACCCCTCCCATTTTCCCTGGACTCATGGCTCCCTGTCACATCCCACCCCACCCCAGCAACGACATTCTGGCTTGTGTCTTCCAATAAGCGTTTCCAGCTCTGGGCTGAGAAACGTGTTACAGGCGTCTGAGGACAAGCTCATGGAGCACAAAACCAGCCTCACCGTTTGGTGATGATGAGAAACAGTGGTGGACATTTCCTGAGGAAGAGGTGCTACAGTTCTGCCAGAGATCAGTTGCGTGTCCATTGCCCACGATCCATTGCTAGAGAGAATCAGATAGATATCCTGAGTCAGGGAGGGAGGGAGGAGTGAAGGAAAAGGGGAAGGAGAAAGGCCCAGGGATGGCGAAAAGCACCCGCATCCACCTAGCCACACCGCCCACCCCTGCATGGTAAGAGCCAACGTTTTATGACTTAAAAGCACCTTGTAAATGGAGAAGTTCCACATGCACACAGAAACGATTATGTGCAGAGATGTTTACTATAGTAGAAGGAGCCATGAACTCAACCTTAGACACCTGCATTCAAGCCTTCTCTCCTCCCAGCATCTCGGGATCATTCCCCAAGCCCGCCTCTCTCAGTCTATTTCCTTGTTTATAGCTCCTATCAGTCTGATATCATCATCACCAGGCACAATGGAGATACTGTGAAGATGCTTGTAAATGTTAAACTAAGTCACAAATCCCCAACATAATTATTTCTCACAGAGACTAGAAAATCATGCTTACAGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGCGGATCATGAGGTCAGGAGTTTGAGACAAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCCAGGCTGAGGCAGGAGAATGGCTTGAACCCGGAAGGCAGAGGTTGCAGTAAGCCAAGATCATGGCACTGCACTCCAGCCCGGGTGACAGGCTGGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAACGAAAAAGAAAATCATGCTTACAATGTGCCTTAAATTAAGAAGTGAAAGCCACCACTGGAAAACTGCCTGAATGTCTGCTCATCTTCATCGCCAAGAAAATAACTTTAAGATCTAATGGGCTGGACAGTTTTGTAACAGAAGTTACTCTGATGGCCTGTTCCTACCAGTGGAAGCTTTACTAACAATGTGTTGTGTTCATGCCATAAAGCCGACATGGGACCTGTGAACTCTTTTCCAGAAAAGCCCATTTTAACTTTCCAATTTCAAGTCCTAAAAGGGTGTTTTATAAATTAATTCACCCATCTGACTATGGTTTGGAGAAAAAAAAATCATAAATACTCCTCTTCTTCAACGAGGCTGCATCAAGAAAAAAAAAAGTTAAACAATCTTGTCAAATGAAGGTCGGGGACCCTAGATCGGCTCTGAAGTTACTTGGCTTAAATAGAGACCTGCGCAGCTAACCCAGCCCAGCGCTCGCTTGGTTCCTATCACTGAATCTGCTCTCGTTTTCTCAAAGCAACTGGAAGGGGGCAGATTGCCAGAAACTTCCCTGGGACGTCTGAGACTTCCAACTGTCTGCAAATAACACAGTCCTGAACCAGCAGGAGCACGGGCTGGGAACCCAGATGGGGAAGGGCGGGCCGCGCAGGGAGCCTCCCCGCCAGGCACTCACGCTGACGATCGTGAAGACGAACAGCAGCACCAGCACCGCGACGTGGAGGACGATGATACTCAGCAACAGGAGGAGCATTCTGGCGGCAAGTTCTGCTCAGCGGAGTTTCTGCCTGCGAGGAGAGCGCTGGGCGTGAGGCCGAACGCACTGGGCCGAGCGACGGAGGCGCGCGCAGAGGGAGGGTCCCGCGCACTAGCGGAAGGCCCGGCCTGGCCCAGCGCCCGCAGCCCGACCGCCCGCGCGGGTCAGGAGCCTTCGCGCCGCCTGCCGCCGAGAGGGGGCAGCAGCCGCCTGCAGGACCAGCGCCCAGTGCCCAGCGCCCAGCCGGGCCCGCCTGCAACGGAACATCTTTTGCTTTTGGAAACAAAACAAGCGGTTCGCACGTCTAAAACCACCCAGGGAACGGAGGGGTTTCCAGAAAATATGAGCAGAGGCCACTGCACGCTTCCACCCACCCCAAGCACCTCCCGGCGACCTCCCTGGAAGGTGAGAGGTCACGTTCTCCGAGACCCCGGTTCAGATGGTGAATTCCCCTATGGGGTGGAGGTAGGGGTGAGGGGAGTAGGTGCCCAGATTTCCGTCTGAGACCTGGAGACAGCCGTGGCATGCGGTGGGGGAGACAGCGGCGAGGAGGCTGGTTTCCCAGACCCCAGTGCTCTCCGCATTCCGTTTGTCTCCAAGTTTCCACCCAACTCTGCCAGCGTAGAGGAACGGTCCTGGCCCCAGCTCAGCCTCGCGCAGACTCTGGCGGCTCCGGAGAGGTGGTGCAGAGCCAGAGTAGTGTGGAAAGAAAAGAATGGCTCGAGAGGGTTGCCCGGACCCTGCGCTTCCCGTCCACCGCGCGCTTCCCCAGGCAGCCCCTGGGGTCAGGGGGCATTCTGCTCTTGCGCTAGACCCACGTGCTCGCCTAGGGGTCCAGTCTGCACCCCAGGCACTCAAAGCCAGGACACGAACCCCAACAAGCCTGAGCTCCGGTCTGGGTGCGGTGGGACAGGAGCCCAGGAGCCTGGACCGAAGGGAGTAGATGTCCAGCGGACGGGAGAGAGAGACAGAGGGTAAAAGGCTGAGTCCGAGAATTTCAGCCGGTCAGAGCCGGCAGGACATTTATCCCAAGTAATGCGGTCCTCGCCCCTCATTTTAAACTTTGGGGGAACTGAAGGCTGGGATGACCTGTTAGAGGACATGCATGGCTGTGAAAGATCTGGCTGAGACTCTGGGGACCATTTTAGGCAGAGTCTTGGGCCAGGGAGACAACGTTTCAATAACCCAGTTTGGAAAGTACCCAATCCCAGGCCCCTCTGTTCCTCTCCACAAGCATCACATTCAAAGAAACTCTGGAATGCACTGGAAGAAATAAACAAGGATTTCTGATGACTCCCAGAGGGTTTGAATTAAGCCGATGGCAGGAGGCTGGGAACTGGGGAACCACAGGAGTCCAACACTCTCGGGATGTCCGCCACAGGGACTGTTTTGCCAGTGTGTCCCAGAGTCAACGCCTCTTCAGCAAGGCGAGAACTGGGCCGCCCTTATCCGCTATCCAGACACCAGCACCATCACCCTTGCCCTGTAAGGTCTTATAGACCATAAAGGCTCTCCTCGTTGTATTACTCCAAGACCCATTGGAGGGAAACAGGACACACAGGGGACCCTGTGCCCCTAAACAGAAGCCCCAGGGAGCTGGCCAAAGCCCCGCGCCTGCGCTGCGCTTTCTGGCACCCTCACTGGAAGATGCCCACATTTCTCCTCCATCTCCTTCACTCTCCCCACCAAATCACTTACAGCCCAAAGGAACAGCTGTCCCGATCCTCAGGGTGGCCTCAAACACAAACTCGGGTGCGTTGGCTCCGCTGCTGGCGCCGCCAAAGCTGCGCTGCGGGGCTGCGCGCGCGCGAAGCAAGGGGGCAGTGGGAGGCTCCTGGCGTTCCCCTTTAACGGGAACAACGCCCTGTTTGCGTCGCTGCAGTAGGGTGTGTCCCTGGGTCAGCGTGTGCGGGAGGGCGGGACTCAGGGAGGAGAGGGGGCAGGAGAGAGGGAGGGCAGGAGACAGTCACTTGGCCTTAA 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Task1_train_23837 | Here is a genetic alteration in PMP22 (peripheral myelin protein 22) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Charcot-Marie-Tooth disease, type I | TCTTGTGTCCATGTAACTGACGGTGCAGTGAGCTAGCCCCACTGTCACTGCAGCAGAAAGGGGCAGGACATTTCTGAATAGAGACAGCCACCAAACCAAAGATACACGTTTGATCCAATGTCCCAAGGGGGTCTGCCAAAGGCTTAGCTATCATACCACCTTCACAGCTCCCAGGTCGATATTTTTTTCAATCACAAAAAGCATTATCCTAAGTGATCAGGAGGGCACTAAGGGCATGTCTCTAGGTAGAGTGAATCACAATGATGCCCAGGATCTCAGCTTCCCCAGCGAGATCACCACCCCTCCCATTTTCCCTGGACTCATGGCTCCCTGTCACATCCCACCCCACCCCAGCAACGACATTCTGGCTTGTGTCTTCCAATAAGCGTTTCCAGCTCTGGGCTGAGAAACGTGTTACAGGCGTCTGAGGACAAGCTCATGGAGCACAAAACCAGCCTCACCGTTTGGTGATGATGAGAAACAGTGGTGGACATTTCCTGAGGAAGAGGTGCTACAGTTCTGCCAGAGATCAGTTGCGTGTCCATTGCCCACGATCCATTGCTAGAGAGAATCAGATAGATATCCTGAGTCAGGGAGGGAGGGAGGAGTGAAGGAAAAGGGGAAGGAGAAAGGCCCAGGGATGGCGAAAAGCACCCGCATCCACCTAGCCACACCGCCCACCCCTGCATGGTAAGAGCCAACGTTTTATGACTTAAAAGCACCTTGTAAATGGAGAAGTTCCACATGCACACAGAAACGATTATGTGCAGAGATGTTTACTATAGTAGAAGGAGCCATGAACTCAACCTTAGACACCTGCATTCAAGCCTTCTCTCCTCCCAGCATCTCGGGATCATTCCCCAAGCCCGCCTCTCTCAGTCTATTTCCTTGTTTATAGCTCCTATCAGTCTGATATCATCATCACCAGGCACAATGGAGATACTGTGAAGATGCTTGTAAATGTTAAACTAAGTCACAAATCCCCAACATAATTATTTCTCACAGAGACTAGAAAATCATGCTTACAGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGCGGATCATGAGGTCAGGAGTTTGAGACAAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCCAGGCTGAGGCAGGAGAATGGCTTGAACCCGGAAGGCAGAGGTTGCAGTAAGCCAAGATCATGGCACTGCACTCCAGCCCGGGTGACAGGCTGGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAACGAAAAAGAAAATCATGCTTACAATGTGCCTTAAATTAAGAAGTGAAAGCCACCACTGGAAAACTGCCTGAATGTCTGCTCATCTTCATCGCCAAGAAAATAACTTTAAGATCTAATGGGCTGGACAGTTTTGTAACAGAAGTTACTCTGATGGCCTGTTCCTACCAGTGGAAGCTTTACTAACAATGTGTTGTGTTCATGCCATAAAGCCGACATGGGACCTGTGAACTCTTTTCCAGAAAAGCCCATTTTAACTTTCCAATTTCAAGTCCTAAAAGGGTGTTTTATAAATTAATTCACCCATCTGACTATGGTTTGGAGAAAAAAAAATCATAAATACTCCTCTTCTTCAACGAGGCTGCATCAAGAAAAAAAAAAGTTAAACAATCTTGTCAAATGAAGGTCGGGGACCCTAGATCGGCTCTGAAGTTACTTGGCTTAAATAGAGACCTGCGCAGCTAACCCAGCCCAGCGCTCGCTTGGTTCCTATCACTGAATCTGCTCTCGTTTTCTCAAAGCAACTGGAAGGGGGCAGATTGCCAGAAACTTCCCTGGGACGTCTGAGACTTCCAACTGTCTGCAAATAACACAGTCCTGAACCAGCAGGAGCACGGGCTGGGAACCCAGATGGGGAAGGGCGGGCCGCGCAGGGAGCCTCCCCGCCAGGCACTCACGCTGACGATCGTGGAGACGAACAGCAGCACCAGCACCGCGACGTGGAGGACGATGATACTCAGCAACAGGAGGAGCATTCTGGCGGCAAGTTCTGCTCAGCGGAGTTTCTGCCTGCGAGGAGAGCGCTGGGCGTGAGGCCGAACGCACTGGGCCGAGCGACGGAGGCGCGCGCAGAGGGAGGGTCCCGCGCACTAGCGGAAGGCCCGGCCTGGCCCAGCGCCCGCAGCCCGACCGCCCGCGCGGGTCAGGAGCCTTCGCGCCGCCTGCCGCCGAGAGGGGGCAGCAGCCGCCTGCAGGACCAGCGCCCAGTGCCCAGCGCCCAGCCGGGCCCGCCTGCAACGGAACATCTTTTGCTTTTGGAAACAAAACAAGCGGTTCGCACGTCTAAAACCACCCAGGGAACGGAGGGGTTTCCAGAAAATATGAGCAGAGGCCACTGCACGCTTCCACCCACCCCAAGCACCTCCCGGCGACCTCCCTGGAAGGTGAGAGGTCACGTTCTCCGAGACCCCGGTTCAGATGGTGAATTCCCCTATGGGGTGGAGGTAGGGGTGAGGGGAGTAGGTGCCCAGATTTCCGTCTGAGACCTGGAGACAGCCGTGGCATGCGGTGGGGGAGACAGCGGCGAGGAGGCTGGTTTCCCAGACCCCAGTGCTCTCCGCATTCCGTTTGTCTCCAAGTTTCCACCCAACTCTGCCAGCGTAGAGGAACGGTCCTGGCCCCAGCTCAGCCTCGCGCAGACTCTGGCGGCTCCGGAGAGGTGGTGCAGAGCCAGAGTAGTGTGGAAAGAAAAGAATGGCTCGAGAGGGTTGCCCGGACCCTGCGCTTCCCGTCCACCGCGCGCTTCCCCAGGCAGCCCCTGGGGTCAGGGGGCATTCTGCTCTTGCGCTAGACCCACGTGCTCGCCTAGGGGTCCAGTCTGCACCCCAGGCACTCAAAGCCAGGACACGAACCCCAACAAGCCTGAGCTCCGGTCTGGGTGCGGTGGGACAGGAGCCCAGGAGCCTGGACCGAAGGGAGTAGATGTCCAGCGGACGGGAGAGAGAGACAGAGGGTAAAAGGCTGAGTCCGAGAATTTCAGCCGGTCAGAGCCGGCAGGACATTTATCCCAAGTAATGCGGTCCTCGCCCCTCATTTTAAACTTTGGGGGAACTGAAGGCTGGGATGACCTGTTAGAGGACATGCATGGCTGTGAAAGATCTGGCTGAGACTCTGGGGACCATTTTAGGCAGAGTCTTGGGCCAGGGAGACAACGTTTCAATAACCCAGTTTGGAAAGTACCCAATCCCAGGCCCCTCTGTTCCTCTCCACAAGCATCACATTCAAAGAAACTCTGGAATGCACTGGAAGAAATAAACAAGGATTTCTGATGACTCCCAGAGGGTTTGAATTAAGCCGATGGCAGGAGGCTGGGAACTGGGGAACCACAGGAGTCCAACACTCTCGGGATGTCCGCCACAGGGACTGTTTTGCCAGTGTGTCCCAGAGTCAACGCCTCTTCAGCAAGGCGAGAACTGGGCCGCCCTTATCCGCTATCCAGACACCAGCACCATCACCCTTGCCCTGTAAGGTCTTATAGACCATAAAGGCTCTCCTCGTTGTATTACTCCAAGACCCATTGGAGGGAAACAGGACACACAGGGGACCCTGTGCCCCTAAACAGAAGCCCCAGGGAGCTGGCCAAAGCCCCGCGCCTGCGCTGCGCTTTCTGGCACCCTCACTGGAAGATGCCCACATTTCTCCTCCATCTCCTTCACTCTCCCCACCAAATCACTTACAGCCCAAAGGAACAGCTGTCCCGATCCTCAGGGTGGCCTCAAACACAAACTCGGGTGCGTTGGCTCCGCTGCTGGCGCCGCCAAAGCTGCGCTGCGGGGCTGCGCGCGCGCGAAGCAAGGGGGCAGTGGGAGGCTCCTGGCGTTCCCCTTTAACGGGAACAACGCCCTGTTTGCGTCGCTGCAGTAGGGTGTGTCCCTGGGTCAGCGTGTGCGGGAGGGCGGGACTCAGGGAGGAGAGGGGGCAGGAGAGAGGGAGGGCAGGAGACAGTCACTTGGCCTTAAATGCGCCTCAAGAAAAAG 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TCTTGTGTCCATGTAACTGACGGTGCAGTGAGCTAGCCCCACTGTCACTGCAGCAGAAAGGGGCAGGACATTTCTGAATAGAGACAGCCACCAAACCAAAGATACACGTTTGATCCAATGTCCCAAGGGGGTCTGCCAAAGGCTTAGCTATCATACCACCTTCACAGCTCCCAGGTCGATATTTTTTTCAATCACAAAAAGCATTATCCTAAGTGATCAGGAGGGCACTAAGGGCATGTCTCTAGGTAGAGTGAATCACAATGATGCCCAGGATCTCAGCTTCCCCAGCGAGATCACCACCCCTCCCATTTTCCCTGGACTCATGGCTCCCTGTCACATCCCACCCCACCCCAGCAACGACATTCTGGCTTGTGTCTTCCAATAAGCGTTTCCAGCTCTGGGCTGAGAAACGTGTTACAGGCGTCTGAGGACAAGCTCATGGAGCACAAAACCAGCCTCACCGTTTGGTGATGATGAGAAACAGTGGTGGACATTTCCTGAGGAAGAGGTGCTACAGTTCTGCCAGAGATCAGTTGCGTGTCCATTGCCCACGATCCATTGCTAGAGAGAATCAGATAGATATCCTGAGTCAGGGAGGGAGGGAGGAGTGAAGGAAAAGGGGAAGGAGAAAGGCCCAGGGATGGCGAAAAGCACCCGCATCCACCTAGCCACACCGCCCACCCCTGCATGGTAAGAGCCAACGTTTTATGACTTAAAAGCACCTTGTAAATGGAGAAGTTCCACATGCACACAGAAACGATTATGTGCAGAGATGTTTACTATAGTAGAAGGAGCCATGAACTCAACCTTAGACACCTGCATTCAAGCCTTCTCTCCTCCCAGCATCTCGGGATCATTCCCCAAGCCCGCCTCTCTCAGTCTATTTCCTTGTTTATAGCTCCTATCAGTCTGATATCATCATCACCAGGCACAATGGAGATACTGTGAAGATGCTTGTAAATGTTAAACTAAGTCACAAATCCCCAACATAATTATTTCTCACAGAGACTAGAAAATCATGCTTACAGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGCGGATCATGAGGTCAGGAGTTTGAGACAAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCCAGGCTGAGGCAGGAGAATGGCTTGAACCCGGAAGGCAGAGGTTGCAGTAAGCCAAGATCATGGCACTGCACTCCAGCCCGGGTGACAGGCTGGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAACGAAAAAGAAAATCATGCTTACAATGTGCCTTAAATTAAGAAGTGAAAGCCACCACTGGAAAACTGCCTGAATGTCTGCTCATCTTCATCGCCAAGAAAATAACTTTAAGATCTAATGGGCTGGACAGTTTTGTAACAGAAGTTACTCTGATGGCCTGTTCCTACCAGTGGAAGCTTTACTAACAATGTGTTGTGTTCATGCCATAAAGCCGACATGGGACCTGTGAACTCTTTTCCAGAAAAGCCCATTTTAACTTTCCAATTTCAAGTCCTAAAAGGGTGTTTTATAAATTAATTCACCCATCTGACTATGGTTTGGAGAAAAAAAAATCATAAATACTCCTCTTCTTCAACGAGGCTGCATCAAGAAAAAAAAAAGTTAAACAATCTTGTCAAATGAAGGTCGGGGACCCTAGATCGGCTCTGAAGTTACTTGGCTTAAATAGAGACCTGCGCAGCTAACCCAGCCCAGCGCTCGCTTGGTTCCTATCACTGAATCTGCTCTCGTTTTCTCAAAGCAACTGGAAGGGGGCAGATTGCCAGAAACTTCCCTGGGACGTCTGAGACTTCCAACTGTCTGCAAATAACACAGTCCTGAACCAGCAGGAGCACGGGCTGGGAACCCAGATGGGGAAGGGCGGGCCGCGCAGGGAGCCTCCCCGCCAGGCACTCACGCTGACGATCGTGGAGACGAACAGCAGCACCGGCACCGCGACGTGGAGGACGATGATACTCAGCAACAGGAGGAGCATTCTGGCGGCAAGTTCTGCTCAGCGGAGTTTCTGCCTGCGAGGAGAGCGCTGGGCGTGAGGCCGAACGCACTGGGCCGAGCGACGGAGGCGCGCGCAGAGGGAGGGTCCCGCGCACTAGCGGAAGGCCCGGCCTGGCCCAGCGCCCGCAGCCCGACCGCCCGCGCGGGTCAGGAGCCTTCGCGCCGCCTGCCGCCGAGAGGGGGCAGCAGCCGCCTGCAGGACCAGCGCCCAGTGCCCAGCGCCCAGCCGGGCCCGCCTGCAACGGAACATCTTTTGCTTTTGGAAACAAAACAAGCGGTTCGCACGTCTAAAACCACCCAGGGAACGGAGGGGTTTCCAGAAAATATGAGCAGAGGCCACTGCACGCTTCCACCCACCCCAAGCACCTCCCGGCGACCTCCCTGGAAGGTGAGAGGTCACGTTCTCCGAGACCCCGGTTCAGATGGTGAATTCCCCTATGGGGTGGAGGTAGGGGTGAGGGGAGTAGGTGCCCAGATTTCCGTCTGAGACCTGGAGACAGCCGTGGCATGCGGTGGGGGAGACAGCGGCGAGGAGGCTGGTTTCCCAGACCCCAGTGCTCTCCGCATTCCGTTTGTCTCCAAGTTTCCACCCAACTCTGCCAGCGTAGAGGAACGGTCCTGGCCCCAGCTCAGCCTCGCGCAGACTCTGGCGGCTCCGGAGAGGTGGTGCAGAGCCAGAGTAGTGTGGAAAGAAAAGAATGGCTCGAGAGGGTTGCCCGGACCCTGCGCTTCCCGTCCACCGCGCGCTTCCCCAGGCAGCCCCTGGGGTCAGGGGGCATTCTGCTCTTGCGCTAGACCCACGTGCTCGCCTAGGGGTCCAGTCTGCACCCCAGGCACTCAAAGCCAGGACACGAACCCCAACAAGCCTGAGCTCCGGTCTGGGTGCGGTGGGACAGGAGCCCAGGAGCCTGGACCGAAGGGAGTAGATGTCCAGCGGACGGGAGAGAGAGACAGAGGGTAAAAGGCTGAGTCCGAGAATTTCAGCCGGTCAGAGCCGGCAGGACATTTATCCCAAGTAATGCGGTCCTCGCCCCTCATTTTAAACTTTGGGGGAACTGAAGGCTGGGATGACCTGTTAGAGGACATGCATGGCTGTGAAAGATCTGGCTGAGACTCTGGGGACCATTTTAGGCAGAGTCTTGGGCCAGGGAGACAACGTTTCAATAACCCAGTTTGGAAAGTACCCAATCCCAGGCCCCTCTGTTCCTCTCCACAAGCATCACATTCAAAGAAACTCTGGAATGCACTGGAAGAAATAAACAAGGATTTCTGATGACTCCCAGAGGGTTTGAATTAAGCCGATGGCAGGAGGCTGGGAACTGGGGAACCACAGGAGTCCAACACTCTCGGGATGTCCGCCACAGGGACTGTTTTGCCAGTGTGTCCCAGAGTCAACGCCTCTTCAGCAAGGCGAGAACTGGGCCGCCCTTATCCGCTATCCAGACACCAGCACCATCACCCTTGCCCTGTAAGGTCTTATAGACCATAAAGGCTCTCCTCGTTGTATTACTCCAAGACCCATTGGAGGGAAACAGGACACACAGGGGACCCTGTGCCCCTAAACAGAAGCCCCAGGGAGCTGGCCAAAGCCCCGCGCCTGCGCTGCGCTTTCTGGCACCCTCACTGGAAGATGCCCACATTTCTCCTCCATCTCCTTCACTCTCCCCACCAAATCACTTACAGCCCAAAGGAACAGCTGTCCCGATCCTCAGGGTGGCCTCAAACACAAACTCGGGTGCGTTGGCTCCGCTGCTGGCGCCGCCAAAGCTGCGCTGCGGGGCTGCGCGCGCGCGAAGCAAGGGGGCAGTGGGAGGCTCCTGGCGTTCCCCTTTAACGGGAACAACGCCCTGTTTGCGTCGCTGCAGTAGGGTGTGTCCCTGGGTCAGCGTGTGCGGGAGGGCGGGACTCAGGGAGGAGAGGGGGCAGGAGAGAGGGAGGGCAGGAGACAGTCACTTGGCCTTAAATGCGCCTCAAGAAAAAG 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Task1_train_23838 | A variant found in Chromosome 17 affects PMP22 (peripheral myelin protein 22). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Charcot-Marie-Tooth disease, type I | TGTAACTGACGGTGCAGTGAGCTAGCCCCACTGTCACTGCAGCAGAAAGGGGCAGGACATTTCTGAATAGAGACAGCCACCAAACCAAAGATACACGTTTGATCCAATGTCCCAAGGGGGTCTGCCAAAGGCTTAGCTATCATACCACCTTCACAGCTCCCAGGTCGATATTTTTTTCAATCACAAAAAGCATTATCCTAAGTGATCAGGAGGGCACTAAGGGCATGTCTCTAGGTAGAGTGAATCACAATGATGCCCAGGATCTCAGCTTCCCCAGCGAGATCACCACCCCTCCCATTTTCCCTGGACTCATGGCTCCCTGTCACATCCCACCCCACCCCAGCAACGACATTCTGGCTTGTGTCTTCCAATAAGCGTTTCCAGCTCTGGGCTGAGAAACGTGTTACAGGCGTCTGAGGACAAGCTCATGGAGCACAAAACCAGCCTCACCGTTTGGTGATGATGAGAAACAGTGGTGGACATTTCCTGAGGAAGAGGTGCTACAGTTCTGCCAGAGATCAGTTGCGTGTCCATTGCCCACGATCCATTGCTAGAGAGAATCAGATAGATATCCTGAGTCAGGGAGGGAGGGAGGAGTGAAGGAAAAGGGGAAGGAGAAAGGCCCAGGGATGGCGAAAAGCACCCGCATCCACCTAGCCACACCGCCCACCCCTGCATGGTAAGAGCCAACGTTTTATGACTTAAAAGCACCTTGTAAATGGAGAAGTTCCACATGCACACAGAAACGATTATGTGCAGAGATGTTTACTATAGTAGAAGGAGCCATGAACTCAACCTTAGACACCTGCATTCAAGCCTTCTCTCCTCCCAGCATCTCGGGATCATTCCCCAAGCCCGCCTCTCTCAGTCTATTTCCTTGTTTATAGCTCCTATCAGTCTGATATCATCATCACCAGGCACAATGGAGATACTGTGAAGATGCTTGTAAATGTTAAACTAAGTCACAAATCCCCAACATAATTATTTCTCACAGAGACTAGAAAATCATGCTTACAGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGCGGATCATGAGGTCAGGAGTTTGAGACAAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCCAGGCTGAGGCAGGAGAATGGCTTGAACCCGGAAGGCAGAGGTTGCAGTAAGCCAAGATCATGGCACTGCACTCCAGCCCGGGTGACAGGCTGGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAACGAAAAAGAAAATCATGCTTACAATGTGCCTTAAATTAAGAAGTGAAAGCCACCACTGGAAAACTGCCTGAATGTCTGCTCATCTTCATCGCCAAGAAAATAACTTTAAGATCTAATGGGCTGGACAGTTTTGTAACAGAAGTTACTCTGATGGCCTGTTCCTACCAGTGGAAGCTTTACTAACAATGTGTTGTGTTCATGCCATAAAGCCGACATGGGACCTGTGAACTCTTTTCCAGAAAAGCCCATTTTAACTTTCCAATTTCAAGTCCTAAAAGGGTGTTTTATAAATTAATTCACCCATCTGACTATGGTTTGGAGAAAAAAAAATCATAAATACTCCTCTTCTTCAACGAGGCTGCATCAAGAAAAAAAAAAGTTAAACAATCTTGTCAAATGAAGGTCGGGGACCCTAGATCGGCTCTGAAGTTACTTGGCTTAAATAGAGACCTGCGCAGCTAACCCAGCCCAGCGCTCGCTTGGTTCCTATCACTGAATCTGCTCTCGTTTTCTCAAAGCAACTGGAAGGGGGCAGATTGCCAGAAACTTCCCTGGGACGTCTGAGACTTCCAACTGTCTGCAAATAACACAGTCCTGAACCAGCAGGAGCACGGGCTGGGAACCCAGATGGGGAAGGGCGGGCCGCGCAGGGAGCCTCCCCGCCAGGCACTCACGCTGACGATCGTGGAGACGAACAGCAGCACCAGCACCGCGACGTGGAGGACGATGATACTCAGCAACAGGAGGAGCATTCTGGCGGCAAGTTCTGCTCAGCGGAGTTTCTGCCTGCGAGGAGAGCGCTGGGCGTGAGGCCGAACGCACTGGGCCGAGCGACGGAGGCGCGCGCAGAGGGAGGGTCCCGCGCACTAGCGGAAGGCCCGGCCTGGCCCAGCGCCCGCAGCCCGACCGCCCGCGCGGGTCAGGAGCCTTCGCGCCGCCTGCCGCCGAGAGGGGGCAGCAGCCGCCTGCAGGACCAGCGCCCAGTGCCCAGCGCCCAGCCGGGCCCGCCTGCAACGGAACATCTTTTGCTTTTGGAAACAAAACAAGCGGTTCGCACGTCTAAAACCACCCAGGGAACGGAGGGGTTTCCAGAAAATATGAGCAGAGGCCACTGCACGCTTCCACCCACCCCAAGCACCTCCCGGCGACCTCCCTGGAAGGTGAGAGGTCACGTTCTCCGAGACCCCGGTTCAGATGGTGAATTCCCCTATGGGGTGGAGGTAGGGGTGAGGGGAGTAGGTGCCCAGATTTCCGTCTGAGACCTGGAGACAGCCGTGGCATGCGGTGGGGGAGACAGCGGCGAGGAGGCTGGTTTCCCAGACCCCAGTGCTCTCCGCATTCCGTTTGTCTCCAAGTTTCCACCCAACTCTGCCAGCGTAGAGGAACGGTCCTGGCCCCAGCTCAGCCTCGCGCAGACTCTGGCGGCTCCGGAGAGGTGGTGCAGAGCCAGAGTAGTGTGGAAAGAAAAGAATGGCTCGAGAGGGTTGCCCGGACCCTGCGCTTCCCGTCCACCGCGCGCTTCCCCAGGCAGCCCCTGGGGTCAGGGGGCATTCTGCTCTTGCGCTAGACCCACGTGCTCGCCTAGGGGTCCAGTCTGCACCCCAGGCACTCAAAGCCAGGACACGAACCCCAACAAGCCTGAGCTCCGGTCTGGGTGCGGTGGGACAGGAGCCCAGGAGCCTGGACCGAAGGGAGTAGATGTCCAGCGGACGGGAGAGAGAGACAGAGGGTAAAAGGCTGAGTCCGAGAATTTCAGCCGGTCAGAGCCGGCAGGACATTTATCCCAAGTAATGCGGTCCTCGCCCCTCATTTTAAACTTTGGGGGAACTGAAGGCTGGGATGACCTGTTAGAGGACATGCATGGCTGTGAAAGATCTGGCTGAGACTCTGGGGACCATTTTAGGCAGAGTCTTGGGCCAGGGAGACAACGTTTCAATAACCCAGTTTGGAAAGTACCCAATCCCAGGCCCCTCTGTTCCTCTCCACAAGCATCACATTCAAAGAAACTCTGGAATGCACTGGAAGAAATAAACAAGGATTTCTGATGACTCCCAGAGGGTTTGAATTAAGCCGATGGCAGGAGGCTGGGAACTGGGGAACCACAGGAGTCCAACACTCTCGGGATGTCCGCCACAGGGACTGTTTTGCCAGTGTGTCCCAGAGTCAACGCCTCTTCAGCAAGGCGAGAACTGGGCCGCCCTTATCCGCTATCCAGACACCAGCACCATCACCCTTGCCCTGTAAGGTCTTATAGACCATAAAGGCTCTCCTCGTTGTATTACTCCAAGACCCATTGGAGGGAAACAGGACACACAGGGGACCCTGTGCCCCTAAACAGAAGCCCCAGGGAGCTGGCCAAAGCCCCGCGCCTGCGCTGCGCTTTCTGGCACCCTCACTGGAAGATGCCCACATTTCTCCTCCATCTCCTTCACTCTCCCCACCAAATCACTTACAGCCCAAAGGAACAGCTGTCCCGATCCTCAGGGTGGCCTCAAACACAAACTCGGGTGCGTTGGCTCCGCTGCTGGCGCCGCCAAAGCTGCGCTGCGGGGCTGCGCGCGCGCGAAGCAAGGGGGCAGTGGGAGGCTCCTGGCGTTCCCCTTTAACGGGAACAACGCCCTGTTTGCGTCGCTGCAGTAGGGTGTGTCCCTGGGTCAGCGTGTGCGGGAGGGCGGGACTCAGGGAGGAGAGGGGGCAGGAGAGAGGGAGGGCAGGAGACAGTCACTTGGCCTTAAATGCGCCTCAAGAAAAAGTCGGTCCCTGC 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TGTAACTGACGGTGCAGTGAGCTAGCCCCACTGTCACTGCAGCAGAAAGGGGCAGGACATTTCTGAATAGAGACAGCCACCAAACCAAAGATACACGTTTGATCCAATGTCCCAAGGGGGTCTGCCAAAGGCTTAGCTATCATACCACCTTCACAGCTCCCAGGTCGATATTTTTTTCAATCACAAAAAGCATTATCCTAAGTGATCAGGAGGGCACTAAGGGCATGTCTCTAGGTAGAGTGAATCACAATGATGCCCAGGATCTCAGCTTCCCCAGCGAGATCACCACCCCTCCCATTTTCCCTGGACTCATGGCTCCCTGTCACATCCCACCCCACCCCAGCAACGACATTCTGGCTTGTGTCTTCCAATAAGCGTTTCCAGCTCTGGGCTGAGAAACGTGTTACAGGCGTCTGAGGACAAGCTCATGGAGCACAAAACCAGCCTCACCGTTTGGTGATGATGAGAAACAGTGGTGGACATTTCCTGAGGAAGAGGTGCTACAGTTCTGCCAGAGATCAGTTGCGTGTCCATTGCCCACGATCCATTGCTAGAGAGAATCAGATAGATATCCTGAGTCAGGGAGGGAGGGAGGAGTGAAGGAAAAGGGGAAGGAGAAAGGCCCAGGGATGGCGAAAAGCACCCGCATCCACCTAGCCACACCGCCCACCCCTGCATGGTAAGAGCCAACGTTTTATGACTTAAAAGCACCTTGTAAATGGAGAAGTTCCACATGCACACAGAAACGATTATGTGCAGAGATGTTTACTATAGTAGAAGGAGCCATGAACTCAACCTTAGACACCTGCATTCAAGCCTTCTCTCCTCCCAGCATCTCGGGATCATTCCCCAAGCCCGCCTCTCTCAGTCTATTTCCTTGTTTATAGCTCCTATCAGTCTGATATCATCATCACCAGGCACAATGGAGATACTGTGAAGATGCTTGTAAATGTTAAACTAAGTCACAAATCCCCAACATAATTATTTCTCACAGAGACTAGAAAATCATGCTTACAGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGCGGATCATGAGGTCAGGAGTTTGAGACAAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCCAGGCTGAGGCAGGAGAATGGCTTGAACCCGGAAGGCAGAGGTTGCAGTAAGCCAAGATCATGGCACTGCACTCCAGCCCGGGTGACAGGCTGGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAACGAAAAAGAAAATCATGCTTACAATGTGCCTTAAATTAAGAAGTGAAAGCCACCACTGGAAAACTGCCTGAATGTCTGCTCATCTTCATCGCCAAGAAAATAACTTTAAGATCTAATGGGCTGGACAGTTTTGTAACAGAAGTTACTCTGATGGCCTGTTCCTACCAGTGGAAGCTTTACTAACAATGTGTTGTGTTCATGCCATAAAGCCGACATGGGACCTGTGAACTCTTTTCCAGAAAAGCCCATTTTAACTTTCCAATTTCAAGTCCTAAAAGGGTGTTTTATAAATTAATTCACCCATCTGACTATGGTTTGGAGAAAAAAAAATCATAAATACTCCTCTTCTTCAACGAGGCTGCATCAAGAAAAAAAAAAGTTAAACAATCTTGTCAAATGAAGGTCGGGGACCCTAGATCGGCTCTGAAGTTACTTGGCTTAAATAGAGACCTGCGCAGCTAACCCAGCCCAGCGCTCGCTTGGTTCCTATCACTGAATCTGCTCTCGTTTTCTCAAAGCAACTGGAAGGGGGCAGATTGCCAGAAACTTCCCTGGGACGTCTGAGACTTCCAACTGTCTGCAAATAACACAGTCCTGAACCAGCAGGAGCACGGGCTGGGAACCCAGATGGGGAAGGGCGGGCCGCGCAGGGAGCCTCCCCGCCAGGCACTCACGCTGACGATCGTGGAGACGAACAGCAGCACCAGCACCGCGACCTGGAGGACGATGATACTCAGCAACAGGAGGAGCATTCTGGCGGCAAGTTCTGCTCAGCGGAGTTTCTGCCTGCGAGGAGAGCGCTGGGCGTGAGGCCGAACGCACTGGGCCGAGCGACGGAGGCGCGCGCAGAGGGAGGGTCCCGCGCACTAGCGGAAGGCCCGGCCTGGCCCAGCGCCCGCAGCCCGACCGCCCGCGCGGGTCAGGAGCCTTCGCGCCGCCTGCCGCCGAGAGGGGGCAGCAGCCGCCTGCAGGACCAGCGCCCAGTGCCCAGCGCCCAGCCGGGCCCGCCTGCAACGGAACATCTTTTGCTTTTGGAAACAAAACAAGCGGTTCGCACGTCTAAAACCACCCAGGGAACGGAGGGGTTTCCAGAAAATATGAGCAGAGGCCACTGCACGCTTCCACCCACCCCAAGCACCTCCCGGCGACCTCCCTGGAAGGTGAGAGGTCACGTTCTCCGAGACCCCGGTTCAGATGGTGAATTCCCCTATGGGGTGGAGGTAGGGGTGAGGGGAGTAGGTGCCCAGATTTCCGTCTGAGACCTGGAGACAGCCGTGGCATGCGGTGGGGGAGACAGCGGCGAGGAGGCTGGTTTCCCAGACCCCAGTGCTCTCCGCATTCCGTTTGTCTCCAAGTTTCCACCCAACTCTGCCAGCGTAGAGGAACGGTCCTGGCCCCAGCTCAGCCTCGCGCAGACTCTGGCGGCTCCGGAGAGGTGGTGCAGAGCCAGAGTAGTGTGGAAAGAAAAGAATGGCTCGAGAGGGTTGCCCGGACCCTGCGCTTCCCGTCCACCGCGCGCTTCCCCAGGCAGCCCCTGGGGTCAGGGGGCATTCTGCTCTTGCGCTAGACCCACGTGCTCGCCTAGGGGTCCAGTCTGCACCCCAGGCACTCAAAGCCAGGACACGAACCCCAACAAGCCTGAGCTCCGGTCTGGGTGCGGTGGGACAGGAGCCCAGGAGCCTGGACCGAAGGGAGTAGATGTCCAGCGGACGGGAGAGAGAGACAGAGGGTAAAAGGCTGAGTCCGAGAATTTCAGCCGGTCAGAGCCGGCAGGACATTTATCCCAAGTAATGCGGTCCTCGCCCCTCATTTTAAACTTTGGGGGAACTGAAGGCTGGGATGACCTGTTAGAGGACATGCATGGCTGTGAAAGATCTGGCTGAGACTCTGGGGACCATTTTAGGCAGAGTCTTGGGCCAGGGAGACAACGTTTCAATAACCCAGTTTGGAAAGTACCCAATCCCAGGCCCCTCTGTTCCTCTCCACAAGCATCACATTCAAAGAAACTCTGGAATGCACTGGAAGAAATAAACAAGGATTTCTGATGACTCCCAGAGGGTTTGAATTAAGCCGATGGCAGGAGGCTGGGAACTGGGGAACCACAGGAGTCCAACACTCTCGGGATGTCCGCCACAGGGACTGTTTTGCCAGTGTGTCCCAGAGTCAACGCCTCTTCAGCAAGGCGAGAACTGGGCCGCCCTTATCCGCTATCCAGACACCAGCACCATCACCCTTGCCCTGTAAGGTCTTATAGACCATAAAGGCTCTCCTCGTTGTATTACTCCAAGACCCATTGGAGGGAAACAGGACACACAGGGGACCCTGTGCCCCTAAACAGAAGCCCCAGGGAGCTGGCCAAAGCCCCGCGCCTGCGCTGCGCTTTCTGGCACCCTCACTGGAAGATGCCCACATTTCTCCTCCATCTCCTTCACTCTCCCCACCAAATCACTTACAGCCCAAAGGAACAGCTGTCCCGATCCTCAGGGTGGCCTCAAACACAAACTCGGGTGCGTTGGCTCCGCTGCTGGCGCCGCCAAAGCTGCGCTGCGGGGCTGCGCGCGCGCGAAGCAAGGGGGCAGTGGGAGGCTCCTGGCGTTCCCCTTTAACGGGAACAACGCCCTGTTTGCGTCGCTGCAGTAGGGTGTGTCCCTGGGTCAGCGTGTGCGGGAGGGCGGGACTCAGGGAGGAGAGGGGGCAGGAGAGAGGGAGGGCAGGAGACAGTCACTTGGCCTTAAATGCGCCTCAAGAAAAAGTCGGTCCCTGC 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Task1_train_23839 | This mutation is located in gene TEKT3 (tektin 3) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Spermatogenic failure 81 | ATGGTGCCTCTCTGGGAGTGGTGAGAGATTTGTAGTCCCAGAGCACACCGCTCTGTCCAGGTCAGCTAAGGGGTACCACTGGCGGTTGATTTACCTTTGCTAAGTGCGTCTGAATCTTATTCTTAGCATCTGCAGTCTCAGCAATGCGATTGGTGAAAGACAAGTTCACTTTGTTGAATTGATTCCACATCTCATTGGCAGTCACAACCAAGAGGTTTTCAATGTCGTCTCTTAGCTTAGCGGAAGCTGCCCGTTCACTCTGGGAGCGGAGAATATTGTCATCTGTAAATTTGGCCCAGGACTCAGGCACTGAGACACTGAAAAAGAGAAGCAGAAGCAGACAACAGTGAGAGTGATGAATCAGCCTACAGGATCGCTAGGCAATCATTTATCCTGAGAGAGAGAAACCCCCAGGTCGCTGATCCTAGCTTCATTATATAAATGTGAATATCAGAATGAGGCTTATTTTCAACTTTCCTTAATTATTCCTTATTTTACTGCTAATCAGTTTTCTATTTATCTAAAGCGTAAGCTGGTTCTTCTGCCAGTTTCAAGGGGCAAAAGGATTAATGAATGATGTGAACGTGTAGGTTCATTATAAATGTGTCACACATCACATCAATAAGCATATGACAAAATACTCAGCCTCAAGGGTAATCAAAGAAGCATTAATGAAAACAGCCTACTAAGGAAATATTAGCAGGAGTAGAGAGAATGATCATTTGCAGTGCTGGCGAGCATATTTAGAAAAAGTTTCTCTTGTATCCTACAGATGAGAATGTTGAATTGGTACAACCTTCCTGGAGGGTAAAGAGGCAACACAAACCAACAGCCTTTCATTCAAATGTGGAAAACCCAGAACTTCCACTTCTAGAAATGTATTATAAGGAAACAATGTACCCAAGGATATACGTGTGAGGATATTCATTTCAGCCATATTTATGCTGATCCCTGAAAAATGAGAAACTACCTAAATGCTCAAAAGTTTAAAACAAAAAGGTTGATTATGGTACATTCAAAAAAGTAATCCATATACCAGGCAAATTCATGTTAAAGTAGAATATTTATTTTACAGACAATGTTACTGAAAAATCAGACAGGCTATATTTCAACTGCGTGCATTGTATGGTATGTGAATTTCAATCAAGTTAACTTTTTTAAGAAAGTGGCTGGAAGAGACCATGGATCCTGCCCAAAATTGCATCCAGGGGCCTGGCAAAGAAACCACTGGTGGGGTAAGTTGAACAAGCTGTGGTAGGAAAGGCATCAAGCTGTTTTCAGCCTGTATCCCACAGCATCCAGGGCATGCTATACAATGGCAACTTGTGGCTTGTCTGTGTTTTTCTTTTTTTTTTCTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCTCCTTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGTCAGGCTGGTCTCGAACTCCTGACCTCAACTGATCCTCCTATCTCAGCATCCCAAAGTGCAGGGATTAGGTGTGAGCCACCGCACCCGGCCTTGTCTGTGTTTTTCTAGGACTTCTGCATCAGGTAGGGTTATTTTCATAGTTAGAAAATATAAGTAACAAATATTACTTTACAAAAGAATTCAGGATGCAATTATCAAGGTCTGACCACAGAACGTGCTTGCTTACTGGAGACTTGTCCAAAGCTGGGTGTGTTTCTCACCTTCAGATATCTTACCTTGCTTTCCATTTTAACCTGTAAGCTGTGTCCTTTCGAAAGGAGAAAGAGTTAAATGACATCGAAATCACAGCCGTGGCGTGTGCCTGACTTACGTTGCATCGACCCTCTCCACTCCGCGGAAGTAGCCGACACCGTCTGATGTGTTGCGCAGGTGGTGGCATTTGTCGTCGATCCGGTAAGCCGTCTGTTTGTCACTCAGGTCCTTTTCCAGCTCATGCTGGGACGCTCTGTTGGCTCTGCAATACAGAGTCGGGAAGTGGAGCTTCACACTCAGGTGACAATGTCCTGCAAGGACACATGAGTGCCCTTCCATATTGGGACCTCTCTCACTGTTGCTCTCACCATCTCTCCCTCTTCACACAGCGTTCAATTTCTCAGTCAAAACGAGCACTCTCTGGATATGCCCATACCTCTACGTCACTGGGACCCTAACTCCCACCTTGTCTACACTTCTCCTTTCATAGGGTGGGATGGAAGTGGGTAGAGCAGGTGAAGATAAACAGGGGTCCAGGATCTGCAGCCCCAGCTGGGGCCCATCTCCCTAAAACACACAAACTCTTCCAGACAGGACACGGGTTCAAAGTAATCTGTCCACATCTGTGCCTTCCATTCCTTCCTTTTCCTTTTCCTTTTCCTCTTCTATATCTCAGCTCCCTTTTCCTCCATTATTTGAATATAAATCCCCAAGAAATCATGAGGCCTTTATAGCCGAGCCTCCTGCCATCCATTGGTAACCTTGGTTTGTGGTCATGCTGTGGCTAAGAAGTTTGCCAGGAGATAAAAACCAAGGATCAAAATTAACCTCCAGGGCAGGAGTGAGAGAGGGCTTCAGCAGAGATCGGGAACTAATGGTCCACCCAGGCTCACACACTCCAGCAGCCACCCTGCTGGAAGGAAGAGGCCTCAGTAAGCTCTGAGATGTATGGTCTTGCCTGCACTGCCAGGCAGACAGGGGACCCACAGCTTATTACCAAAGACAGACCCTGGGGGCAGGCATAGATGACAGGTGAGCCACATGGAATACTTCATTCGACAAATAATTATTGAGTGCCTCCTATGTGGCAGACACCATTCTGCAAGCCTGGGATGCGTCAGTGGACACCACCAACATCTCTTCTCTAAGGAGCCGACATGTTTCTGGGAGGAGACAGCACATTCAATGAATCGGCAATTTGTGTGGTTCGAAGAACAATGCTAAAAACAAAGCAGGAGAAAAGAGACCAGGACTGTGGTTATGATTTTAAAGAGGATGGCCAGAATAGGTTTCACCAGGTGACATTGAGCAAAGACATAAAAAAGGAGGAATCAGATCATGCAGGGCCCTAATGGACATGGGAATGAATCAGGTTTTCCTTCGAGTAAAATTGGAGGCCATTGACTTACAATTTAAAAGGATCATTCTGGTGCTGGGCTGAGAACAGACTGCCGGGGGCAGGAAGACCCATTAGGGGGCCACTGCAGTTACTCAGGTGAGAGATGAAGGCGGCTTGGACCAAGAGGATGAAAGTGAAGGAAGCAAGAAGAAGTATTCAGATTCTGGATATGGTTTGAAGATAGAACCAAGAGAATCTCCTATGAAATTGAACACCAGTGAGAAAAAAAAAAAAAAAAGAGCTTGAGTCGTTGGAATAATGGAATTCCATCAACTAAGATAGGGGGTTGGCTGGGGAGGGAGAAGCTAGGGGAGAAGATGGAAGTTCAGTTGACATAGTAAACTTGAGTGTTCACTGAACATCTACATGGGAGACATGAAGGAGGTTGTTGGAATTTGAAAGAGACATCTAGGCTAGAGATAAAAAGTAGGGAGACACTGACAGATAACCAGTATTTGAAAAAGTAGGATAGCTGAATGAGCTTGGGAATTTCTATATTCTCAGCACCTAAAAATGGTTTTGGTAGAGCAAAGCCGTTCACTCAGTAAAGGCTGTGTTGAATGGAATGAGTCAGTTCTAGCTGCAGGTTCCCTTCAACTTAGCCTGTGCTTTCAAGCAAATCACTTGACCTCTCAAAGCTGTTTTTCTTCTTTGTAAAGTGTAAATGAGAGTAGCGACATGCAAATGATCTGCACTTTGTGAATTCTAAGACAGTATACATGTGCGAAGGATGAAAAAGGAAAAAGCTCCCTTCCCTTGCTACTTCTGTGCTGAGGCTCTTGCCTTAGGTGATTATGCTGAAATTCTAGGACTAGAAGGCCTTTCTCCTTTGGTCTGGGACCAAGATGTCCCACAAGCTTCCTGTCTTAAGCTGAGACCCTGTTAGAGAAGGG 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ATGGTGCCTCTCTGGGAGTGGTGAGAGATTTGTAGTCCCAGAGCACACCGCTCTGTCCAGGTCAGCTAAGGGGTACCACTGGCGGTTGATTTACCTTTGCTAAGTGCGTCTGAATCTTATTCTTAGCATCTGCAGTCTCAGCAATGCGATTGGTGAAAGACAAGTTCACTTTGTTGAATTGATTCCACATCTCATTGGCAGTCACAACCAAGAGGTTTTCAATGTCGTCTCTTAGCTTAGCGGAAGCTGCCCGTTCACTCTGGGAGCGGAGAATATTGTCATCTGTAAATTTGGCCCAGGACTCAGGCACTGAGACACTGAAAAAGAGAAGCAGAAGCAGACAACAGTGAGAGTGATGAATCAGCCTACAGGATCGCTAGGCAATCATTTATCCTGAGAGAGAGAAACCCCCAGGTCGCTGATCCTAGCTTCATTATATAAATGTGAATATCAGAATGAGGCTTATTTTCAACTTTCCTTAATTATTCCTTATTTTACTGCTAATCAGTTTTCTATTTATCTAAAGCGTAAGCTGGTTCTTCTGCCAGTTTCAAGGGGCAAAAGGATTAATGAATGATGTGAACGTGTAGGTTCATTATAAATGTGTCACACATCACATCAATAAGCATATGACAAAATACTCAGCCTCAAGGGTAATCAAAGAAGCATTAATGAAAACAGCCTACTAAGGAAATATTAGCAGGAGTAGAGAGAATGATCATTTGCAGTGCTGGCGAGCATATTTAGAAAAAGTTTCTCTTGTATCCTACAGATGAGAATGTTGAATTGGTACAACCTTCCTGGAGGGTAAAGAGGCAACACAAACCAACAGCCTTTCATTCAAATGTGGAAAACCCAGAACTTCCACTTCTAGAAATGTATTATAAGGAAACAATGTACCCAAGGATATACGTGTGAGGATATTCATTTCAGCCATATTTATGCTGATCCCTGAAAAATGAGAAACTACCTAAATGCTCAAAAGTTTAAAACAAAAAGGTTGATTATGGTACATTCAAAAAAGTAATCCATATACCAGGCAAATTCATGTTAAAGTAGAATATTTATTTTACAGACAATGTTACTGAAAAATCAGACAGGCTATATTTCAACTGCGTGCATTGTATGGTATGTGAATTTCAATCAAGTTAACTTTTTTAAGAAAGTGGCTGGAAGAGACCATGGATCCTGCCCAAAATTGCATCCAGGGGCCTGGCAAAGAAACCACTGGTGGGGTAAGTTGAACAAGCTGTGGTAGGAAAGGCATCAAGCTGTTTTCAGCCTGTATCCCACAGCATCCAGGGCATGCTATACAATGGCAACTTGTGGCTTGTCTGTGTTTTTCTTTTTTTTTTCTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCTCCTTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGTCAGGCTGGTCTCGAACTCCTGACCTCAACTGATCCTCCTATCTCAGCATCCCAAAGTGCAGGGATTAGGTGTGAGCCACCGCACCCGGCCTTGTCTGTGTTTTTCTAGGACTTCTGCATCAGGTAGGGTTATTTTCATAGTTAGAAAATATAAGTAACAAATATTACTTTACAAAAGAATTCAGGATGCAATTATCAAGGTCTGACCACAGAACGTGCTTGCTTACTGGAGACTTGTCCAAAGCTGGGTGTGTTTCTCACCTTCAGATATCTTACCTTGCTTTCCATTTTAACCTGTAAGCTGTGTCCTTTCGAAAGGAGAAAGAGTTAAATGACATCGAAATCACAGCCGTGGCGTGTGCCTGACTTACGTTGCATCGACCCTCTCCACTCCGCGGAAGTAGCCGACACCGTCTGATGTGTTGCGCAGGTGGTGGCATTTGTCGTCGATCCGGTAAGCCGTCTGTTTGTCACTCAGGTCCTTTTCCAGCTCATGCGGGGACGCTCTGTTGGCTCTGCAATACAGAGTCGGGAAGTGGAGCTTCACACTCAGGTGACAATGTCCTGCAAGGACACATGAGTGCCCTTCCATATTGGGACCTCTCTCACTGTTGCTCTCACCATCTCTCCCTCTTCACACAGCGTTCAATTTCTCAGTCAAAACGAGCACTCTCTGGATATGCCCATACCTCTACGTCACTGGGACCCTAACTCCCACCTTGTCTACACTTCTCCTTTCATAGGGTGGGATGGAAGTGGGTAGAGCAGGTGAAGATAAACAGGGGTCCAGGATCTGCAGCCCCAGCTGGGGCCCATCTCCCTAAAACACACAAACTCTTCCAGACAGGACACGGGTTCAAAGTAATCTGTCCACATCTGTGCCTTCCATTCCTTCCTTTTCCTTTTCCTTTTCCTCTTCTATATCTCAGCTCCCTTTTCCTCCATTATTTGAATATAAATCCCCAAGAAATCATGAGGCCTTTATAGCCGAGCCTCCTGCCATCCATTGGTAACCTTGGTTTGTGGTCATGCTGTGGCTAAGAAGTTTGCCAGGAGATAAAAACCAAGGATCAAAATTAACCTCCAGGGCAGGAGTGAGAGAGGGCTTCAGCAGAGATCGGGAACTAATGGTCCACCCAGGCTCACACACTCCAGCAGCCACCCTGCTGGAAGGAAGAGGCCTCAGTAAGCTCTGAGATGTATGGTCTTGCCTGCACTGCCAGGCAGACAGGGGACCCACAGCTTATTACCAAAGACAGACCCTGGGGGCAGGCATAGATGACAGGTGAGCCACATGGAATACTTCATTCGACAAATAATTATTGAGTGCCTCCTATGTGGCAGACACCATTCTGCAAGCCTGGGATGCGTCAGTGGACACCACCAACATCTCTTCTCTAAGGAGCCGACATGTTTCTGGGAGGAGACAGCACATTCAATGAATCGGCAATTTGTGTGGTTCGAAGAACAATGCTAAAAACAAAGCAGGAGAAAAGAGACCAGGACTGTGGTTATGATTTTAAAGAGGATGGCCAGAATAGGTTTCACCAGGTGACATTGAGCAAAGACATAAAAAAGGAGGAATCAGATCATGCAGGGCCCTAATGGACATGGGAATGAATCAGGTTTTCCTTCGAGTAAAATTGGAGGCCATTGACTTACAATTTAAAAGGATCATTCTGGTGCTGGGCTGAGAACAGACTGCCGGGGGCAGGAAGACCCATTAGGGGGCCACTGCAGTTACTCAGGTGAGAGATGAAGGCGGCTTGGACCAAGAGGATGAAAGTGAAGGAAGCAAGAAGAAGTATTCAGATTCTGGATATGGTTTGAAGATAGAACCAAGAGAATCTCCTATGAAATTGAACACCAGTGAGAAAAAAAAAAAAAAAAGAGCTTGAGTCGTTGGAATAATGGAATTCCATCAACTAAGATAGGGGGTTGGCTGGGGAGGGAGAAGCTAGGGGAGAAGATGGAAGTTCAGTTGACATAGTAAACTTGAGTGTTCACTGAACATCTACATGGGAGACATGAAGGAGGTTGTTGGAATTTGAAAGAGACATCTAGGCTAGAGATAAAAAGTAGGGAGACACTGACAGATAACCAGTATTTGAAAAAGTAGGATAGCTGAATGAGCTTGGGAATTTCTATATTCTCAGCACCTAAAAATGGTTTTGGTAGAGCAAAGCCGTTCACTCAGTAAAGGCTGTGTTGAATGGAATGAGTCAGTTCTAGCTGCAGGTTCCCTTCAACTTAGCCTGTGCTTTCAAGCAAATCACTTGACCTCTCAAAGCTGTTTTTCTTCTTTGTAAAGTGTAAATGAGAGTAGCGACATGCAAATGATCTGCACTTTGTGAATTCTAAGACAGTATACATGTGCGAAGGATGAAAAAGGAAAAAGCTCCCTTCCCTTGCTACTTCTGTGCTGAGGCTCTTGCCTTAGGTGATTATGCTGAAATTCTAGGACTAGAAGGCCTTTCTCCTTTGGTCTGGGACCAAGATGTCCCACAAGCTTCCTGTCTTAAGCTGAGACCCTGTTAGAGAAGGG 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Task1_train_23840 | This mutation is located in gene TEKT3 (tektin 3) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Spermatogenic failure 81 | TACCAGAAGAAGAATTAACGGGTAGAGGGGAACTCTGATTATTTTGATATGTATTACCAAACTGCTTCCCAGGAAATTTCTACCAATCCATAGCCCCACCAGTAATATATGAAAGTGCCCATTTGCTGCTCTTACGCCAGCTCTAAATGTCATGCATTTTCATTATTGCAAATTTGATAGGCCAAAGGTAGTTATTTCATTGATTTAATTTGTATTTTATCATTAAGCTTTAACATTTTTTCTTATATTTGTTGATCGCCTATATTTTCTCTTTGGAGGCTTATCTGTTCATGTGACTCAATTTAAAAAGGACCCTCTAATACTGTGTTGACAATAAATTTTCAAACACACAAGAACATCTGGACAAAAACTGCAGAAAAAATTCAAATTAGAACCATCTTTCTGAAAGTAGTCATCACTGAAAGGGTTACTAAGAGAAGAAACTGAATCTCCACTGGAAATTAAGAAAGTAGCTATCATTTTAAGGATATTTTCAATTCTTAAAGGCAGTCAAGGGTAGGAAGAACTGTAGAATAAACCAATACTTCAGAGTAATCTGATGCTCAGGGAAGGCGTAGAAGCCCTTCTGATTCTAAACAAAAATTTATGATGAATTAATTCAAAAAGATCATTAGTGAACTATCAGCCATTCTCAGGATTCCTGGGGATTGTGTGCCTCTGTATGTGTTTTTGTACAGCGGGGAGGGGTTGCAGTAGGAAGTGACAGTGCGCAGGGTGCCCCAAGAAACTCCTCCGCTCACCAGACTTTCAGCTCCTTGATTCTCTAAACTCTTCTACTACAGATGCTGTGGTAGAGAACTACAGCAAGTGCTCATCACATGGGAATAAGTCATGCAAACATGAGGAAAAATGGTGCTAGCTGTGCTCATCAAAATGTATACTTCTAAAATAATTTGTATAATTTGCACATCTTCAAACATGGAATGTCTTCTTTCAATGGAGGAGGGTGGAATGGGGTTGGAGGGCCCATCGCATAGCCTGAGGGTTAGAGGTGACCTGAGCCCATTCAGAAGCCTGGTCAGAGGCCAGTAACCAACTGAAATGCTCCCTACATTACTATGGCAACTGGCCAATCTCAGCACCATTTTTCTATTTAATCAAGCAAATTCCATGCCCTAAGATGGTCTCATTTGATGATGTCACTACATCCTAAAAGGGAATCATAACATATATACAGGAGGCGTTTCATGATACAGACTAAAAAAATAAAGGTTTTGGTCTCAAATATTGTTTATTTTAATTTAGTGACAGCAATGATGAAGCAGCCTATTTAAGAGATAAGATGGTCATATGGTTTGGATCTGTGTCCCTGCACAAATCTCAAGTCAAATTGTAATCCACAATGTTGGGGGTGGGGCCTGGTGGGAGGTGATTGGATCGTGGGGGTAGATCCTTCATGAATGGTTTAGCACCGTCCCTTCGGCGCTGTTCTCAGGATAGTGAATGAGTTCTCTGGAGATCTGGTTGTTTAAAAGTGTGTGGCACCCTCCCCCGTTCTCTCTTGCCCCTGGACCCTTCATTTAAGATACCTGCTCCTCCTTTGCCTTCTGCCATGATTGGAAGCTTCCTAAGGGCTCCCCAGAAGCAGAAGCCATTATGCTTCCTGTACAGCCTGTAGAACCAGGCGCCAATTAAACCTCTTTTCTTTATAAATTACTGAGTCTCAGGTATTTCTTTATAGCAATGTGAGAATGGCGGAATACAGATGGCGTGTTCACCTTAAAACATTGTGTGTCCTAATGGTGTCTATTTAATTGGTCTTCTTTGCTTTGCATTCAGAATTACCTCTTAAAGTGGTTGTTCTTAAAGTATATAATGCATTTAAAAAAAAAATAGGCAGTGGTTTTGCCATTGCTGAAAACAGTCACAGATTTATTGATAGGGGGTTGGCTTCAACAGATGAAGTAAAACATAAGTCAATAAATAAATAACCACAGTAACTCAACCAGTGGGTTATAATCATAAAAATTCAGTGTGTTCTATCATAAGGTCTTACCTGAAGAGGGGCTTCAGTCTCCATCAAAGCCCGCTCCAGTCTTTTCTTCACATCAGTAAGTGCATTTGTCTCTCCAATCATTTCATCCAACTCATGAATGATTTCAGATTTCCAAAACCCTATGTCATTGACACGTTCTCCCAGATTTTGGGTTGTGTCTGCCTGAGTTTTTCTTGTTTGTTGATATTTGTCTTGAATCAGGCGAGATGTATCCACTCTTAGTTTCTCCGAATTATGTCGGGAAGTGTTGGACTCTTGATAGTTGGTTAAATTGGACCTGTACCAGTCATCCGGTGTGTATCTTGTGAAGAAAGTGGTTCTGTTGGAAACAAAGGGAAGCATGGTATTCTCGGACACCCTCTGTGATCTGGTGCAGTACGGGGCCACGCTTGGGGAATTGGAGGCGACTTTGTAGTATGTGCTGGGTCTCCAAGGAAGGCTCAGGCTATGGGTCAAATTGGAGTGGGGAAAGCGGTCCCTGTAGCTTGAGGCCATGGTACTGATGGCTGGTAGAAAGTTGGTTGGTGTTGGTCTAGGGTGGGCGTAAGTTGTCGTTAAAGTACAACCTACACGTTCCATGATGCCAAAACACTATTTGTAAATCTCTCCTGTTAAAAAATAAAAAGTAAAATAAGACAGTCACATAAAATAATCTCTGGTGAAACATACAGATAAAAGGCCACATCTGACTTAGTATCAGTTGCAGAGGCCCCGAACACATTAGATGCTTGTTCTCATTTGTTATCCACATTCACCATTGATAATATATTCCAACAAAGTTTTTTTTTAATCTCTATGTCTCTAGAATGTATAAAGATCACATTTTTATTGGCCATTTGGACTTTTGAATTTTTGTGAAAATTATGAGAGTAATATTGTCTTGTTGTAACAAATTCAAATTAGGAGCCTAAACTATGCATCTTAACGGATAGGGATTCAAAATAGATTTCTCACTTGAAGTCAGGAGTTCGAGACCAGCCTAGCCAACAAGACGAAATGTCGTCTCTGTTAAAAATACAAAAATTAGCCAGCTGTTGTGGCAGGCACCTGTAATCCCATCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGTGGCGGGGGTGGGGGGCAGATAGATTGCAATGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCTACAGAGAGACTCCGTCTAAAAAATAAATAAATAAATAAATAGATTTCCGTCTCAAACCATGATAGACTAATAAAAACTAGACTTAGCCTCTTATATCTAAAAATCTAGACAAGAAACTACTGATTTCAGACATTGGACAATGGACAGCACAGGACTCTGAGCCATGAGAAAAGAGAAACAAGGTGAGCCCACCTATTTATTAGCTATGTGACACTGGGTAAATTACTTAACCTCTCTGTGCCTCGGTTGCTTCACTTAGAAATAATAGGGAATAATAATAGCACTTCCTTCTTTGGACTGTTGTGAGCAGTGGTAGCAGCAGGGAATTGCTTGGCAACTCCCCGCCCCTGCCCCCACAAGTCATCCTAAATAAACACTCCATCTGGATGACAATGGTGTGGTTGATATGCAAACGCAGCTCGAGGCAAGTACCTGGATCTCCTTTCCTGGCAACCTACAACCTGTAAGCACCTCGAATGTATAACAGAAATCCTAGGGAAGCCATGGGGTTATGAGGGCTAAGACAATGCTATGTATTTAGAAGGATTAGCAGAGTGTCGGACACATAGAAAGTGTGCAATAGATCTTAACTTTTTAAATTGCTACCTCAGAGAAGTAGATAAAGTAAAAGAAAAATATCCTTCCTCCCCGCAAAGGTGAACTCCTCAGAAGTAGCCACTAAATAGTTCATTAATAGTTGTATCTTTCCAGATTTTTCCTATTCATATACCAACATGTGTATTATTTATATTTTATATACCTCTACCTATATACCATCTATACCTATATACAAAGCTTTTTAATACAAAAACTGAATTATCCTAATCATTTGATATATCATTGTAGATCTTTTTTTTTTTTTTAACTTAAGTATATTTTCTGGGCCACTCCCCCTGTTAGAACATACAGATCT 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TACCAGAAGAAGAATTAACGGGTAGAGGGGAACTCTGATTATTTTGATATGTATTACCAAACTGCTTCCCAGGAAATTTCTACCAATCCATAGCCCCACCAGTAATATATGAAAGTGCCCATTTGCTGCTCTTACGCCAGCTCTAAATGTCATGCATTTTCATTATTGCAAATTTGATAGGCCAAAGGTAGTTATTTCATTGATTTAATTTGTATTTTATCATTAAGCTTTAACATTTTTTCTTATATTTGTTGATCGCCTATATTTTCTCTTTGGAGGCTTATCTGTTCATGTGACTCAATTTAAAAAGGACCCTCTAATACTGTGTTGACAATAAATTTTCAAACACACAAGAACATCTGGACAAAAACTGCAGAAAAAATTCAAATTAGAACCATCTTTCTGAAAGTAGTCATCACTGAAAGGGTTACTAAGAGAAGAAACTGAATCTCCACTGGAAATTAAGAAAGTAGCTATCATTTTAAGGATATTTTCAATTCTTAAAGGCAGTCAAGGGTAGGAAGAACTGTAGAATAAACCAATACTTCAGAGTAATCTGATGCTCAGGGAAGGCGTAGAAGCCCTTCTGATTCTAAACAAAAATTTATGATGAATTAATTCAAAAAGATCATTAGTGAACTATCAGCCATTCTCAGGATTCCTGGGGATTGTGTGCCTCTGTATGTGTTTTTGTACAGCGGGGAGGGGTTGCAGTAGGAAGTGACAGTGCGCAGGGTGCCCCAAGAAACTCCTCCGCTCACCAGACTTTCAGCTCCTTGATTCTCTAAACTCTTCTACTACAGATGCTGTGGTAGAGAACTACAGCAAGTGCTCATCACATGGGAATAAGTCATGCAAACATGAGGAAAAATGGTGCTAGCTGTGCTCATCAAAATGTATACTTCTAAAATAATTTGTATAATTTGCACATCTTCAAACATGGAATGTCTTCTTTCAATGGAGGAGGGTGGAATGGGGTTGGAGGGCCCATCGCATAGCCTGAGGGTTAGAGGTGACCTGAGCCCATTCAGAAGCCTGGTCAGAGGCCAGTAACCAACTGAAATGCTCCCTACATTACTATGGCAACTGGCCAATCTCAGCACCATTTTTCTATTTAATCAAGCAAATTCCATGCCCTAAGATGGTCTCATTTGATGATGTCACTACATCCTAAAAGGGAATCATAACATATATACAGGAGGCGTTTCATGATACAGACTAAAAAAATAAAGGTTTTGGTCTCAAATATTGTTTATTTTAATTTAGTGACAGCAATGATGAAGCAGCCTATTTAAGAGATAAGATGGTCATATGGTTTGGATCTGTGTCCCTGCACAAATCTCAAGTCAAATTGTAATCCACAATGTTGGGGGTGGGGCCTGGTGGGAGGTGATTGGATCGTGGGGGTAGATCCTTCATGAATGGTTTAGCACCGTCCCTTCGGCGCTGTTCTCAGGATAGTGAATGAGTTCTCTGGAGATCTGGTTGTTTAAAAGTGTGTGGCACCCTCCCCCGTTCTCTCTTGCCCCTGGACCCTTCATTTAAGATACCTGCTCCTCCTTTGCCTTCTGCCATGATTGGAAGCTTCCTAAGGGCTCCCCAGAAGCAGAAGCCATTATGCTTCCTGTACAGCCTGTAGAACCAGGCGCCAATTAAACCTCTTTTCTTTATAAATTACTGAGTCTCAGGTATTTCTTTATAGCAATGTGAGAATGGCGGAATACAGATGGCGTGTTCACCTTAAAACATTGTGTGTCCTAATGGTGTCTATTTAATTGGTCTTCTTTGCTTTGCATTCAGAATTACCTCTTAAAGTGGTTGTTCTTAAAGTATATAATGCATTTAAAAAAAAAATAGGCAGTGGTTTTGCCATTGCTGAAAACAGTCACAGATTTATTGATAGGGGGTTGGCTTCAACAGATGAAGTAAAACATAAGTCAATAAATAAATAACCACAGTAACTCAACCAGTGGGTTATAATCATAAAAATTCAGTGTGTTCTATCATAAGGTCTTACCTGAAGAGGGGCTTCAGTCTCCATCAAAGCCTGCTCCAGTCTTTTCTTCACATCAGTAAGTGCATTTGTCTCTCCAATCATTTCATCCAACTCATGAATGATTTCAGATTTCCAAAACCCTATGTCATTGACACGTTCTCCCAGATTTTGGGTTGTGTCTGCCTGAGTTTTTCTTGTTTGTTGATATTTGTCTTGAATCAGGCGAGATGTATCCACTCTTAGTTTCTCCGAATTATGTCGGGAAGTGTTGGACTCTTGATAGTTGGTTAAATTGGACCTGTACCAGTCATCCGGTGTGTATCTTGTGAAGAAAGTGGTTCTGTTGGAAACAAAGGGAAGCATGGTATTCTCGGACACCCTCTGTGATCTGGTGCAGTACGGGGCCACGCTTGGGGAATTGGAGGCGACTTTGTAGTATGTGCTGGGTCTCCAAGGAAGGCTCAGGCTATGGGTCAAATTGGAGTGGGGAAAGCGGTCCCTGTAGCTTGAGGCCATGGTACTGATGGCTGGTAGAAAGTTGGTTGGTGTTGGTCTAGGGTGGGCGTAAGTTGTCGTTAAAGTACAACCTACACGTTCCATGATGCCAAAACACTATTTGTAAATCTCTCCTGTTAAAAAATAAAAAGTAAAATAAGACAGTCACATAAAATAATCTCTGGTGAAACATACAGATAAAAGGCCACATCTGACTTAGTATCAGTTGCAGAGGCCCCGAACACATTAGATGCTTGTTCTCATTTGTTATCCACATTCACCATTGATAATATATTCCAACAAAGTTTTTTTTTAATCTCTATGTCTCTAGAATGTATAAAGATCACATTTTTATTGGCCATTTGGACTTTTGAATTTTTGTGAAAATTATGAGAGTAATATTGTCTTGTTGTAACAAATTCAAATTAGGAGCCTAAACTATGCATCTTAACGGATAGGGATTCAAAATAGATTTCTCACTTGAAGTCAGGAGTTCGAGACCAGCCTAGCCAACAAGACGAAATGTCGTCTCTGTTAAAAATACAAAAATTAGCCAGCTGTTGTGGCAGGCACCTGTAATCCCATCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGTGGCGGGGGTGGGGGGCAGATAGATTGCAATGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCTACAGAGAGACTCCGTCTAAAAAATAAATAAATAAATAAATAGATTTCCGTCTCAAACCATGATAGACTAATAAAAACTAGACTTAGCCTCTTATATCTAAAAATCTAGACAAGAAACTACTGATTTCAGACATTGGACAATGGACAGCACAGGACTCTGAGCCATGAGAAAAGAGAAACAAGGTGAGCCCACCTATTTATTAGCTATGTGACACTGGGTAAATTACTTAACCTCTCTGTGCCTCGGTTGCTTCACTTAGAAATAATAGGGAATAATAATAGCACTTCCTTCTTTGGACTGTTGTGAGCAGTGGTAGCAGCAGGGAATTGCTTGGCAACTCCCCGCCCCTGCCCCCACAAGTCATCCTAAATAAACACTCCATCTGGATGACAATGGTGTGGTTGATATGCAAACGCAGCTCGAGGCAAGTACCTGGATCTCCTTTCCTGGCAACCTACAACCTGTAAGCACCTCGAATGTATAACAGAAATCCTAGGGAAGCCATGGGGTTATGAGGGCTAAGACAATGCTATGTATTTAGAAGGATTAGCAGAGTGTCGGACACATAGAAAGTGTGCAATAGATCTTAACTTTTTAAATTGCTACCTCAGAGAAGTAGATAAAGTAAAAGAAAAATATCCTTCCTCCCCGCAAAGGTGAACTCCTCAGAAGTAGCCACTAAATAGTTCATTAATAGTTGTATCTTTCCAGATTTTTCCTATTCATATACCAACATGTGTATTATTTATATTTTATATACCTCTACCTATATACCATCTATACCTATATACAAAGCTTTTTAATACAAAAACTGAATTATCCTAATCATTTGATATATCATTGTAGATCTTTTTTTTTTTTTTAACTTAAGTATATTTTCTGGGCCACTCCCCCTGTTAGAACATACAGATCT 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Task1_train_23841 | This mutation is located in gene FLCN (folliculin) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | GCTGCTCCGATGCCAATGCAGTCACTTGTGAGACAAAAGGTAAACTGCACAAGGGCTTGCAGCCTGGAGAACACTCAGGAGTCTGTCCGTTTTGTCGGACATGATCACAGTATTGTGATTATATTTATGGCTGGAATGATACGACTCAGATTTGCTTTAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACATGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATAAAAAAATTAGCTGGGTGTGGTGACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCACTTGAACCCAGGAAGAAGTGAGTTCCACATCAATATGTTTTCAGCACACTCAGGGGAAGAGGCCTACAGAACAAGGACTCCCAGCCCAGATCTGTGCTCACTGACAAGTGCCCACAGGCCAGTGCTCCTCACAGAGGCAGCAAGCAAACACGGCTAAGGACTGTTCTCCCAAATCCATGGACAAGCCAACCAATGTATCGTGACTGCTCTATCCTAACAGATATGCCAAAAGCAGAGACGCCCGTTACCAGGCAAAGGAGGTGTGCAGGCACGCCCACAGGTTGTCATCACTTGTCAGCGATGTCAGCGAGCGGGCGGCGTTGCCGTTCCTCTGGTGTAGGAATGGCGTGAAGGCTGTGTTCATCCTCTGAGCACGCTGTGGGCATCCAAACTGCTCTGCCTCAAACACCTGAAATGCAAAGGGAAGGGATGGCCTCTTTAAGCCAAAGCTGCCAGCAGCTCGGACCCCTACTCGTTCACAGCCAACTCCAGGACCTGACTCCTGGAGGATCAGTCCCACTATACTCTCTCCATGCAGAGCACACAAAGTGCCACCAGTCCAATCATTCCCAACAGCATAGCTCTGCCCCGGCTACATCAGGAGCTATCCGAGAACAGAAATCGGTTGAGCTTCTCCTGTCCCCTTCCTAATGAGTGACCCAAGGCACCCAGGGGGATTCTCGTGAGTGGCCATCTGCGCTGCTCCCCACCTGTCTCCACCTCCCCTTCTGGGTGCACTACTTGGCTAAGGCACACGTGACTGGCTCTGGTCAATGAGCTGAGACAAACAAGGCCCTCAGCACCATCTGTGCTTCTGGAGGGCAGAAGGAGCAACATTTTTTCCTTTCTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTACAACCTCTGCCTCATGGGTTCAAGCGTTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTGTATTTCTGGAAGAGACGGGGTTTCTCCATGTTGGTCAAGCTGGTCTCAAACTCCCGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCTAGGGGAAGCATTTTCATATGGCTGCCGCTCTGCCTGCCAGGACGACCACAGCAAGCAGAGCCCCACTCTCCTGCAATGCACACACCATGAGTAAGAAACAGGCCCTATGGCTTGAAGGTGCTGAGATCCGAGGCTGTTACCAGAGCACGACCTGGCCTGGCCTGGCCTGAGCTGCATCTCCACAGCTGGAGGCCTACATTCGGTGGTGCAACTCAATGGGATTAACAGACATCCCTGAGATGAAGGCCAGAGGAAACAAAGACACCAGGGGTCTGACTGCAGCAAAGAAACCAGAGCTGAGCGAGAACCAGGACAACGGGCACAAGAGAGACCAGCAAAGCAGGCGGGATGGCCTGGGAGGCTCCTCACGACCTCCAGCTCTGAAGCCAAGAGACTACAATTCACACAGTGCACTGGCTGTAAGCAGAGGGGAAGACGCCACGCGGTCTCCAGGCCTCAACCTCAGCACAGAGCGGCTCATGCAGTGCAGGGCCCCCTGCCGCCCCGGCACCTCATCTCTGAATTCACCTTGAGCGCCTTGCCCTGGAGCTCATCGATGATTCCCCGGACCTTCCCCAGCAGGAAGGGCCAGGAGTTGATGAGGTAGATCCGGTCCATCATGATGGTGATGATGCTGTACCAGCGCTGGAAGCCCCTGGCCAGGCTGTCCTTGATGAAGAAGGTGTGGCTGAACACAAAGCCGTGCTGCTCATCTCCGAAGAAGATGGGGCCTTCACGGCCAGGGCAGACCTGGAGGGACACCGGCGACTCAGACAGCCCTTTCCTCGCTTAGTGACACCAAATCAAAGCCTCTTCTTCAGACTTTTCAGAGTCAGCTGGCACAAATCAGCCAGCGTTAATAACGGGGAGAGTGGCACAGTGGGGGCCATGAGAGCCGAAGACTGTACTCTTCTGCTCCTGTGATCAAGCTTCCAACAACACTTGTCATTGTGGACTGCAAGGGCCGGTAACAAGGCTTATTGCTTTTCTTCCACCTTGAGCCATAAATAACTCCCATGCATATGTCACACCTCTCCCAGACTCAAATGTACCAGCTTACTCACCTGGAGCATGCAGAAGAACCAGCAGGTCAGAGCAGCCACTGCACTCTCCCTGCACTGAAATCCGCACATTTTATTCTTTCTTTCTTTCTTTATTTGAGATGGAGTCTCGCTCTTGTCACCCAGGCTGGAATGCAGTGGTGTGATCCTGGCCCACTGCAACCTCCGTCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTGTAAGAGTGTGCCACCACGCCTGGCTAATTTTTTTGTATTTTTTTTAGAGAGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCGGCCTTGGCCTCCCAAAGGGCTGGGATTACAGGAGTGGGCCACCATGCCCAGCCCCACGTACTTTATTCTTATAAGAGGATTTCAGTCCCTCCTCATTACATACTTACTCTTCCTTAACACACAATTCTAACAGACATGCCGAGCTGCCTGCTAGCAGACCAGCGGTAGGAAATTAAAAGGAGAGGACAGTTGAGGGCAGGCACACAGCCACACTGAATGAGAACAGTAAGGGAGCTTGGTGTGTCGAACTGGGTGGACACCAATGACAAGGAAGTTTAGTAACTGAACGACGAATTCTTTGTAACAAAGACCTGAGCTCAGAGTCAAGAGCAACAGCAGCAGCGACGTAGTTTAGGAAGAAATCATCCACACCTCAGCAGGCTGAGAGCAGCACGGGATCATCACTGAGACTTGGAATGAGGACTGAGATAATAAAAAAAGGTGATGTTGATGCAATGAACCACCTAACCTAGAAATGCTTCCTATCTTAGGAATACATCCATCAAGAATAGACACACATGGCTGGGCATGGCGGCTCACACCTGTAATCCTAGTGCTTTGGGAGGATGAGCCAGAGGATTGCTTGAGTTCGAGACCAACCTGGGCAACATACTGAGACCTCATCTCTACAAAAAAATTTTAAAAAGGTGGGGCACAGTGGCTCCCACCTGTAATCCCAGCACTTCGGGAGGCCGAGGCGGGCAAATCACAAGGTCAGGAGTTCAAGACCAGCTCGGCCAACATGGTGAAATCTCTTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCACACGCCTGTTGTCCCAGCTACTCAGGATAGCTGAGACAGAAGAATCACTTAAACCCAGGGTGGAGGTTGCAGTAAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCAACCGAGTGAGACTCTGTCTTAACAACAACAAAAAACAAACCCCAGTTGAGCATGGTGGCACACACCAGTGGTCCCAGCCACCTGGGAGGCTAAGGCGGGAGGATCGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAACCATGACGGCACCACTGCACTCCAGTCTGGACGACAGAGCGAGACCCTGACACAAAAGAAGGAAAAAAGAAAACAATAATAATAAAGAAAGGACAAATAATAAAAGTTCGGTGCTTAAAGTGCAAAAGCTAGCACTCAATCAGAAAATGC 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GCTGCTCCGATGCCAATGCAGTCACTTGTGAGACAAAAGGTAAACTGCACAAGGGCTTGCAGCCTGGAGAACACTCAGGAGTCTGTCCGTTTTGTCGGACATGATCACAGTATTGTGATTATATTTATGGCTGGAATGATACGACTCAGATTTGCTTTAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACATGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATAAAAAAATTAGCTGGGTGTGGTGACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCACTTGAACCCAGGAAGAAGTGAGTTCCACATCAATATGTTTTCAGCACACTCAGGGGAAGAGGCCTACAGAACAAGGACTCCCAGCCCAGATCTGTGCTCACTGACAAGTGCCCACAGGCCAGTGCTCCTCACAGAGGCAGCAAGCAAACACGGCTAAGGACTGTTCTCCCAAATCCATGGACAAGCCAACCAATGTATCGTGACTGCTCTATCCTAACAGATATGCCAAAAGCAGAGACGCCCGTTACCAGGCAAAGGAGGTGTGCAGGCACGCCCACAGGTTGTCATCACTTGTCAGCGATGTCAGCGAGCGGGCGGCGTTGCCGTTCCTCTGGTGTAGGAATGGCGTGAAGGCTGTGTTCATCCTCTGAGCACGCTGTGGGCATCCAAACTGCTCTGCCTCAAACACCTGAAATGCAAAGGGAAGGGATGGCCTCTTTAAGCCAAAGCTGCCAGCAGCTCGGACCCCTACTCGTTCACAGCCAACTCCAGGACCTGACTCCTGGAGGATCAGTCCCACTATACTCTCTCCATGCAGAGCACACAAAGTGCCACCAGTCCAATCATTCCCAACAGCATAGCTCTGCCCCGGCTACATCAGGAGCTATCCGAGAACAGAAATCGGTTGAGCTTCTCCTGTCCCCTTCCTAATGAGTGACCCAAGGCACCCAGGGGGATTCTCGTGAGTGGCCATCTGCGCTGCTCCCCACCTGTCTCCACCTCCCCTTCTGGGTGCACTACTTGGCTAAGGCACACGTGACTGGCTCTGGTCAATGAGCTGAGACAAACAAGGCCCTCAGCACCATCTGTGCTTCTGGAGGGCAGAAGGAGCAACATTTTTTCCTTTCTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTACAACCTCTGCCTCATGGGTTCAAGCGTTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTGTATTTCTGGAAGAGACGGGGTTTCTCCATGTTGGTCAAGCTGGTCTCAAACTCCCGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCTAGGGGAAGCATTTTCATATGGCTGCCGCTCTGCCTGCCAGGACGACCACAGCAAGCAGAGCCCCACTCTCCTGCAATGCACACACCATGAGTAAGAAACAGGCCCTATGGCTTGAAGGTGCTGAGATCCGAGGCTGTTACCAGAGCACGACCTGGCCTGGCCTGGCCTGAGCTGCATCTCCACAGCTGGAGGCCTACATTCGGTGGTGCAACTCAATGGGATTAACAGACATCCCTGAGATGAAGGCCAGAGGAAACAAAGACACCAGGGGTCTGACTGCAGCAAAGAAACCAGAGCTGAGCGAGAACCAGGACAACGGGCACAAGAGAGACCAGCAAAGCAGGCGGGATGGCCTGGGAGGCTCCTCACGACCTCCAGCTCTGAAGCCAAGAGACTACAATTCACACAGTGCACTGGCTGTAAGCAGAGGGGAAGACGCCACGCGGTCTCCAGGCCTCAACCTCAGCACAGAGCGGCTCATGCAGTGCAGGGCCCCCTGCCGCCCCGGCACCTCATCTCTGAATTCACCTTGAGCGACTTGCCCTGGAGCTCATCGATGATTCCCCGGACCTTCCCCAGCAGGAAGGGCCAGGAGTTGATGAGGTAGATCCGGTCCATCATGATGGTGATGATGCTGTACCAGCGCTGGAAGCCCCTGGCCAGGCTGTCCTTGATGAAGAAGGTGTGGCTGAACACAAAGCCGTGCTGCTCATCTCCGAAGAAGATGGGGCCTTCACGGCCAGGGCAGACCTGGAGGGACACCGGCGACTCAGACAGCCCTTTCCTCGCTTAGTGACACCAAATCAAAGCCTCTTCTTCAGACTTTTCAGAGTCAGCTGGCACAAATCAGCCAGCGTTAATAACGGGGAGAGTGGCACAGTGGGGGCCATGAGAGCCGAAGACTGTACTCTTCTGCTCCTGTGATCAAGCTTCCAACAACACTTGTCATTGTGGACTGCAAGGGCCGGTAACAAGGCTTATTGCTTTTCTTCCACCTTGAGCCATAAATAACTCCCATGCATATGTCACACCTCTCCCAGACTCAAATGTACCAGCTTACTCACCTGGAGCATGCAGAAGAACCAGCAGGTCAGAGCAGCCACTGCACTCTCCCTGCACTGAAATCCGCACATTTTATTCTTTCTTTCTTTCTTTATTTGAGATGGAGTCTCGCTCTTGTCACCCAGGCTGGAATGCAGTGGTGTGATCCTGGCCCACTGCAACCTCCGTCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTGTAAGAGTGTGCCACCACGCCTGGCTAATTTTTTTGTATTTTTTTTAGAGAGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCGGCCTTGGCCTCCCAAAGGGCTGGGATTACAGGAGTGGGCCACCATGCCCAGCCCCACGTACTTTATTCTTATAAGAGGATTTCAGTCCCTCCTCATTACATACTTACTCTTCCTTAACACACAATTCTAACAGACATGCCGAGCTGCCTGCTAGCAGACCAGCGGTAGGAAATTAAAAGGAGAGGACAGTTGAGGGCAGGCACACAGCCACACTGAATGAGAACAGTAAGGGAGCTTGGTGTGTCGAACTGGGTGGACACCAATGACAAGGAAGTTTAGTAACTGAACGACGAATTCTTTGTAACAAAGACCTGAGCTCAGAGTCAAGAGCAACAGCAGCAGCGACGTAGTTTAGGAAGAAATCATCCACACCTCAGCAGGCTGAGAGCAGCACGGGATCATCACTGAGACTTGGAATGAGGACTGAGATAATAAAAAAAGGTGATGTTGATGCAATGAACCACCTAACCTAGAAATGCTTCCTATCTTAGGAATACATCCATCAAGAATAGACACACATGGCTGGGCATGGCGGCTCACACCTGTAATCCTAGTGCTTTGGGAGGATGAGCCAGAGGATTGCTTGAGTTCGAGACCAACCTGGGCAACATACTGAGACCTCATCTCTACAAAAAAATTTTAAAAAGGTGGGGCACAGTGGCTCCCACCTGTAATCCCAGCACTTCGGGAGGCCGAGGCGGGCAAATCACAAGGTCAGGAGTTCAAGACCAGCTCGGCCAACATGGTGAAATCTCTTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCACACGCCTGTTGTCCCAGCTACTCAGGATAGCTGAGACAGAAGAATCACTTAAACCCAGGGTGGAGGTTGCAGTAAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCAACCGAGTGAGACTCTGTCTTAACAACAACAAAAAACAAACCCCAGTTGAGCATGGTGGCACACACCAGTGGTCCCAGCCACCTGGGAGGCTAAGGCGGGAGGATCGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAACCATGACGGCACCACTGCACTCCAGTCTGGACGACAGAGCGAGACCCTGACACAAAAGAAGGAAAAAAGAAAACAATAATAATAAAGAAAGGACAAATAATAAAAGTTCGGTGCTTAAAGTGCAAAAGCTAGCACTCAATCAGAAAATGC 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Task1_train_23842 | This genomic variant is located on Chromosome 17, within the RAI1 (retinoic acid induced 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Smith-Magenis syndrome | CAGCCCCGAGCAGAGGCCTGGCATGCAGGACCCGCTGTCACCCAAGGCCCCACTCATCTGCACCAAGGAGGAGGTGGAGGAGGTGCTGGACTCCAAGGCCGGCTGGGGCTCTCCGTGCCACCTCTCAGGGGAGTCCGTCATCCTGCTGGGCCCTACAGTGGGCACCGAGTCAAAGGTCCAGAGCTGGTTTGAGTCCTCTCTGTCACACATGAAGCCAGGTGAAGAGGGGCCTGATGGGGAGCGAGCTCCAGGGGATTCCACCACCTCGGACGCCTCTCTGGCCCAGAAGCCCAACAAGCCTGCTGTGCCCGAGGCGCCCATCGCAAAGAAAGAGCCTGTGCCACGGGGCAAAAGCTTACGGAGCCGTCGGGTGCACCGGGGGCTGCCCGAGGCCGAGGACTCCCCATGCAGGGCACCAGTGCTGCCCAAAGACCTCTTGCTCCCTGAATCCTGCACAGGGCCCCCCCAGGGACAGATGGAAGGGGCTGGAGCCCCAGGCCGGGGGGCCTCGGAAGGGCTCCCCAGGATGTGTACTCGTTCTCTCACGGCCCTGAGTGAGCCCCGCACGCCCGGACCCCCAGGCCTGACCACCACCCCTGCACCCCCAGACAAACTGGGGGGCAAGCAGCGAGCCGCCTTCAAGTCGGGCAAGCGGGTGGGGAAGCCCTCACCCAAGGCTGCCTCCAGCCCCAGCAACCCGGCCGCCCTGCCTGTGGCCTCCGACAGCAGCCCGATGGGCTCCAAGACCAAGGAGACAGACTCACCCAGCACGCCTGGCAAGGACCAGCGCTCCATGATCCTTCGGTCACGCACCAAAACCCAGGAGATCTTCCACTCCAAGCGGCGGAGGCCCTCTGAGGGCCGGCTCCCCAACTGCCGTGCCACCAAGAAGCTCCTCGACAACAGCCACTTGCCCGCCACATTCAAGGTCTCCAGCAGCCCCCAGAAGGAGGGCAGGGTGAGCCAGCGGGCAAGGGTCCCCAAACCTGGTGCAGGCAGCAAGCTCTCTGACCGGCCCCTCCATGCGCTCAAAAGGAAGTCGGCCTTCATGGCGCCGGTCCCCACCAAGAAGCGGAACCTGGTCTTGCGGAGCCGCAGCAGCAGCAGCAGCAACGCCAGTGGCAATGGGGGAGATGGGAAGGAGGAGAGGCCTGAGGGTTCCCCCACCCTCTTCAAGAGGATGTCTTCTCCCAAGAAAGCCAAGCCCACCAAGGGCAATGGCGAGCCTGCCACAAAGCTCCCACCCCCGGAGACCCCCGATGCCTGCCTCAAGCTCGCCTCTCGGGCAGCCTTCCAGGGGGCCATGAAGACCAAGGTGCTGCCACCCCGGAAGGGCCGGGGCCTGAAGCTGGAAGCCATCGTGCAGAAGATCACCTCGCCCAGCCTCAAGAAGTTCGCATGTAAAGCGCCAGGGGCCTCTCCTGGTAATCCTCTGAGCCCATCCCTTTCCGACAAAGACCGTGGGCTCAAGGGTGCTGGGGGCAGCCCAGTGGGGGTGGAAGAAGGCCTGGTAAATGTGGGCACCGGGCAGAAGCTCCCAACTTCTGGGGCTGATCCGTTATGCAGAAATCCAACCAACAGATCCTTAAAAGGCAAACTCATGAACAGTAAGAAACTGTCTTCTACTGACTGTTTCAAAACCGAGGCCTTCACATCCCCGGAGGCCCTGCAGCCTGGGGGGACTGCCCTGGCGCCTAAGAAGAGGAGCCGGAAAGGCCGGGCAGGGGCCCATGGACTCTCCAAAGGCCCGCTGGAGAAGCGGCCCTATCTTGGCCCGGCTCTGCTCCTGACTCCCCGAGACAGGGCCAGTGGCACACAAGGGGCCAGTGAGGACAACTCTGGTGGAGGAGGCAAGAAGCCAAAGATGGAGGAGCTGGGCCTGGCCTCCCAGCCCCCGGAGGGCAGGCCCTGCCAGCCCCAGACAAGGGCACAGAAACAGCCAGGCCACACCAACTACAGCAGCTATTCCAAGCGGAAGCGCCTCACTCGGGGCCGGGCCAAGAACACCACCTCTTCACCCTGTAAGGGGCGTGCCAAGCGACGACGACAGCAGCAGGTGCTGCCCCTGGATCCCGCAGAGCCTGAAATCCGCCTCAAGTACATTTCCTCTTGCAAGCGGCTGAGGTCAGACAGCCGGACCCCCGCCTTCTCACCCTTCGTGCGGGTGGAGAAGCGAGACGCGTTCACCACCATATGCACTGTTGTCAACTCCCCTGGAGATGCGCCCAAGCCCCACAGGAAGCCTTCCTCCTCTGCCTCCTCTTCCTCATCCTCGTCCTCGTTCTCCTTGGATGCAGCCGGGGCCTCCCTGGCCACACTCCCTGGAGGCTCCATCCTGCAGCCGCGGCCCTCCTTGCCCCTCTCCTCCACGATGCACTTGGGGCCTGTGGTTTCCAAGGCCCTGAGTACCTCTTGCCTTGTTTGCTGCCTCTGCCAAAACCCGGCCAACTTCAAGGACCTTGGGGACCTCTGTGGGCCCTACTACCCTGAACACTGCCTCCCCAAAAAGAAGCCAAAACTCAAGGAGAAGGTGCGGCCAGAAGGCACCTGTGAGGAGGCCTCGCTGCCGCTTGAGAGAACACTCAAAGGTCCCGAGTGTGCAGCTGCCGCCACTGCCGGGAAGCCCCCCAGGCCTGACGGCCCAGCTGACCCGGCCAAGCAGGGCCCACTGCGCACCAGTGCCCGGGGCCTGTCCCGGAGGCTGCAGAGCTGCTACTGCTGTGATGGCCGGGAGGATGGGGGCGAGGAGGCAGCCCCAGCCGACAAGGGTCGCAAACATGAGTGCAGCAAGGAGGCTCCGGCAGAGCCCGGCGGGGAGGCCCAGGAGCACTGGGTGCATGAGGCCTGTGCCGTGTGGACCGGCGGCGTCTACCTGGTGGCCGGGAAGCTCTTTGGGCTGCAGGAGGCCATGAAGGTGGCCGTGGACATGGTAAGAGGCCAGCCCAGCCAGGGTGGGGAGTGTGGGGTTCCAAAGGACAGGCAGGCAGGCAGTCGGGGAGCCCCTTGTTTCTAGTGCTACAGTGTGGGCCAAATGTGTCTGCAGTCTCGGGACAATCTGCAGAGTCCTGAGCCTCTCTGGGGTGTGTGGGGGAAGTGGAGGCACCCATCTGGCTAAGGCAGGTCACACTCACCTACCCTGTCCCAGGAGACTTCCCGCCGGGGCCCGTATGCCCAGCCACCGCCACTCTCCCACTCACCTGGCATCTTCAGGCTCCAGCCCCACCCAGAATCCACTGGGCCCCTCCCCATGCTGTCACCGGAGATGCCAAGGCCCAGAGAACACGAGGACTCCCAAGATTGAACATCAGGGCTGCCCCGGGCGGTGCAAGAGCAAGTTGCCCACCCTCTGTTCCTGTCTCCATTGCCTCTGGGATGAAGCTAAGGGCTCAGGAAGACCCTCTCTGGCGACACAGGCTTGGTGCATGGACCCAGTCACAGGGTTCCTCCCTCTGCAGGACAGTCCATGGGGTCACACAGTCACAACAGGCAGGGCGGGGCAGATCCAGACCCTCTCACCATTGGCTCTGAGACCAGCTTTGGAAGCCATAGTCACTGAGCACCAACATGAGAGAGGGAACTCTGGGGCTGTGCCGCCATGCACCTTTGGGGCTGTGACCTGCCCTCTCTGTGCCTCCGTCCCCTCGCCCCTAACGTGGGTATGAGGGTGCCCATGGAGGAGGGGTCGGGAGGGTTAAAAGGTGGGCACCTCTGAGCCCACCGAGCACAGCAGCCCTGTGATAGTCAGTGCAGAGGGGCCTGGTGGCTCTGGTGACAGCAGGGTGACGTTCTTCGTGGTGTCACCACTTCCCCAGTACCATAGAGTACCTCTGTGCCCTTCTGAGGGAGGGGTCAGTGGGGGCGGTGGGGTGCACCTCTCCCCCGGGGCCATGCTTCTGCCCCCACATTCAACCCCGACTCCACTGCCTCATCCAGACTTCCGTGGAGTGACGCTCCCGGCTCTCAGCGCTGTGTGGTGGCTCTCAGTGGGGACGCCTGCAGCCTTCTCTGGCCCCTGCCCTGAGTCCCATCCCCTCCACTCCTTCCTTCAACCCACTATGTGCGGCTGAGGTCACAGGGGAGCCAGAGGGGCTTGGCA 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CAGCCCCGAGCAGAGGCCTGGCATGCAGGACCCGCTGTCACCCAAGGCCCCACTCATCTGCACCAAGGAGGAGGTGGAGGAGGTGCTGGACTCCAAGGCCGGCTGGGGCTCTCCGTGCCACCTCTCAGGGGAGTCCGTCATCCTGCTGGGCCCTACAGTGGGCACCGAGTCAAAGGTCCAGAGCTGGTTTGAGTCCTCTCTGTCACACATGAAGCCAGGTGAAGAGGGGCCTGATGGGGAGCGAGCTCCAGGGGATTCCACCACCTCGGACGCCTCTCTGGCCCAGAAGCCCAACAAGCCTGCTGTGCCCGAGGCGCCCATCGCAAAGAAAGAGCCTGTGCCACGGGGCAAAAGCTTACGGAGCCGTCGGGTGCACCGGGGGCTGCCCGAGGCCGAGGACTCCCCATGCAGGGCACCAGTGCTGCCCAAAGACCTCTTGCTCCCTGAATCCTGCACAGGGCCCCCCCAGGGACAGATGGAAGGGGCTGGAGCCCCAGGCCGGGGGGCCTCGGAAGGGCTCCCCAGGATGTGTACTCGTTCTCTCACGGCCCTGAGTGAGCCCCGCACGCCCGGACCCCCAGGCCTGACCACCACCCCTGCACCCCCAGACAAACTGGGGGGCAAGCAGCGAGCCGCCTTCAAGTCGGGCAAGCGGGTGGGGAAGCCCTCACCCAAGGCTGCCTCCAGCCCCAGCAACCCGGCCGCCCTGCCTGTGGCCTCCGACAGCAGCCCGATGGGCTCCAAGACCAAGGAGACAGACTCACCCAGCACGCCTGGCAAGGACCAGCGCTCCATGATCCTTCGGTCACGCACCAAAACCCAGGAGATCTTCCACTCCAAGCGGCGGAGGCCCTCTGAGGGCCGGCTCCCCAACTGCCGTGCCACCAAGAAGCTCCTCGACAACAGCCACTTGCCCGCCACATTCAAGGTCTCCAGCAGCCCCCAGAAGGAGGGCAGGGTGAGCCAGCGGGCAAGGGTCCCCAAACCTGGTGCAGGCAGCAAGCTCTCTGACCGGCCCCTCCATGCGCTCAAAAGGAAGTCGGCCTTCATGGCGCCGGTCCCCACCAAGAAGCGGAACCTGGTCTTGCGGAGCCGCAGCAGCAGCAGCAGCAACGCCAGTGGCAATGGGGGAGATGGGAAGGAGGAGAGGCCTGAGGGTTCCCCCACCCTCTTCAAGAGGATGTCTTCTCCCAAGAAAGCCAAGCCCACCAAGGGCAATGGCGAGCCTGCCACAAAGCTCCCACCCCCGGAGACCCCCGATGCCTGCCTCAAGCTCGCCTCTCGGGCAGCCTTCCAGGGGGCCATGAAGACCAAGGTGCTGCCACCCCGGAAGGGCCGGGGCCTGAAGCTGGAAGCCATCGTGCAGAAGATCACCTCGCCCAGCCTCAAGAAGTTCGCATGTAAAGCGCCAGGGGCCTCTCCTGGTAATCCTCTGAGCCCATCCCTTTCCGACAAAGACCGTGGGCTCAAGGGTGCTGGGGGCAGCCCAGTGGGGGTGGAAGAAGGCCTGGTAAATGTGGGCACCGGGCAGAAGCTCCCAACTTCTGGGGCTGATCCGTTATGCAGAAATCCAACCAACAGATCCTTAAAAGGCAAACTCATGAACAGTAAGAAACTGTCTTCTACTGACTGTTTCAAAACCGAGGCCTTCACATCCCCGGAGGCCCTGCAGCCTGGGGGGACTGCCCTGGCGCCTAAGAAGAGGAGCCGGAAAGGCCGGGCAGGGGCCCATGGACTCTCCAAAGGCCCGCTGGAGAAGCGGCCCTATCTTGGCCCGGCTCTGCTCCTGACTCCCCGAGACAGGGCCAGTGGCACACAAGGGGCCAGTGAGGACAACTCTGGTGGAGGAGGCAAGAAGCCAAAGATGGAGGAGCTGGGCCTGGCCTCCCAGCCCCCGGAGGGCAGGCCCTGCCAGCCCCAGACAAGGGCACAGAAACAGCCAGGCCACACCAACTACAGCAGCTATTCCAAGCGGAAGCGCCTCACTCGGGGCCGGGCCAAGAACACCACCTCTTCACCCTGTAAGGGGCGTGCCAAGCGACGACGACGGCAGCAGGTGCTGCCCCTGGATCCCGCAGAGCCTGAAATCCGCCTCAAGTACATTTCCTCTTGCAAGCGGCTGAGGTCAGACAGCCGGACCCCCGCCTTCTCACCCTTCGTGCGGGTGGAGAAGCGAGACGCGTTCACCACCATATGCACTGTTGTCAACTCCCCTGGAGATGCGCCCAAGCCCCACAGGAAGCCTTCCTCCTCTGCCTCCTCTTCCTCATCCTCGTCCTCGTTCTCCTTGGATGCAGCCGGGGCCTCCCTGGCCACACTCCCTGGAGGCTCCATCCTGCAGCCGCGGCCCTCCTTGCCCCTCTCCTCCACGATGCACTTGGGGCCTGTGGTTTCCAAGGCCCTGAGTACCTCTTGCCTTGTTTGCTGCCTCTGCCAAAACCCGGCCAACTTCAAGGACCTTGGGGACCTCTGTGGGCCCTACTACCCTGAACACTGCCTCCCCAAAAAGAAGCCAAAACTCAAGGAGAAGGTGCGGCCAGAAGGCACCTGTGAGGAGGCCTCGCTGCCGCTTGAGAGAACACTCAAAGGTCCCGAGTGTGCAGCTGCCGCCACTGCCGGGAAGCCCCCCAGGCCTGACGGCCCAGCTGACCCGGCCAAGCAGGGCCCACTGCGCACCAGTGCCCGGGGCCTGTCCCGGAGGCTGCAGAGCTGCTACTGCTGTGATGGCCGGGAGGATGGGGGCGAGGAGGCAGCCCCAGCCGACAAGGGTCGCAAACATGAGTGCAGCAAGGAGGCTCCGGCAGAGCCCGGCGGGGAGGCCCAGGAGCACTGGGTGCATGAGGCCTGTGCCGTGTGGACCGGCGGCGTCTACCTGGTGGCCGGGAAGCTCTTTGGGCTGCAGGAGGCCATGAAGGTGGCCGTGGACATGGTAAGAGGCCAGCCCAGCCAGGGTGGGGAGTGTGGGGTTCCAAAGGACAGGCAGGCAGGCAGTCGGGGAGCCCCTTGTTTCTAGTGCTACAGTGTGGGCCAAATGTGTCTGCAGTCTCGGGACAATCTGCAGAGTCCTGAGCCTCTCTGGGGTGTGTGGGGGAAGTGGAGGCACCCATCTGGCTAAGGCAGGTCACACTCACCTACCCTGTCCCAGGAGACTTCCCGCCGGGGCCCGTATGCCCAGCCACCGCCACTCTCCCACTCACCTGGCATCTTCAGGCTCCAGCCCCACCCAGAATCCACTGGGCCCCTCCCCATGCTGTCACCGGAGATGCCAAGGCCCAGAGAACACGAGGACTCCCAAGATTGAACATCAGGGCTGCCCCGGGCGGTGCAAGAGCAAGTTGCCCACCCTCTGTTCCTGTCTCCATTGCCTCTGGGATGAAGCTAAGGGCTCAGGAAGACCCTCTCTGGCGACACAGGCTTGGTGCATGGACCCAGTCACAGGGTTCCTCCCTCTGCAGGACAGTCCATGGGGTCACACAGTCACAACAGGCAGGGCGGGGCAGATCCAGACCCTCTCACCATTGGCTCTGAGACCAGCTTTGGAAGCCATAGTCACTGAGCACCAACATGAGAGAGGGAACTCTGGGGCTGTGCCGCCATGCACCTTTGGGGCTGTGACCTGCCCTCTCTGTGCCTCCGTCCCCTCGCCCCTAACGTGGGTATGAGGGTGCCCATGGAGGAGGGGTCGGGAGGGTTAAAAGGTGGGCACCTCTGAGCCCACCGAGCACAGCAGCCCTGTGATAGTCAGTGCAGAGGGGCCTGGTGGCTCTGGTGACAGCAGGGTGACGTTCTTCGTGGTGTCACCACTTCCCCAGTACCATAGAGTACCTCTGTGCCCTTCTGAGGGAGGGGTCAGTGGGGGCGGTGGGGTGCACCTCTCCCCCGGGGCCATGCTTCTGCCCCCACATTCAACCCCGACTCCACTGCCTCATCCAGACTTCCGTGGAGTGACGCTCCCGGCTCTCAGCGCTGTGTGGTGGCTCTCAGTGGGGACGCCTGCAGCCTTCTCTGGCCCCTGCCCTGAGTCCCATCCCCTCCACTCCTTCCTTCAACCCACTATGTGCGGCTGAGGTCACAGGGGAGCCAGAGGGGCTTGGCA 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Task1_train_23843 | This variant lies on Chromosome 17 and affects the gene SREBF1 (sterol regulatory element binding transcription factor 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; IFAP syndrome 1, with or without BRESHECK syndrome | CCCCATCAGCTGACCCAGGGCTGGGGTTGGGCTGGGTCACACAGTTCAGTGCTCGCTCTAAGAGATGTTCCCGGAATAGCTGAGTCACCTGGGCCAGGGGGTCCACTGTGGAGAGGAGGAGGTGAGTGGGGTGGGGAGCAGGGCCCCACCCTCCTCTCCAAGCTAAGGGCTTTTTCCTGGGTGGGCTGGGGCCACACCTAGGGCCACTGGGAAGTGCCGGCATGCCCCTGGGTGCAGCCCCTGCCAAGGACAGGGGAAAGCGGGTGGACATAACTATCACCAGCACCAGCCTTGGCCAGGAGACAACACTGAGGCCTGCCCTACACTGCTTCCAAAGGAAAACCGACTTGAGAAGATGCCATTGTTGGCTCCGCTTCCTTACTCCACAGCGGCACTGCCTGGGGTCACTTCTCCAATTAGCCATCTGCCCATCAATCCCTGCATGTGCTTCTGAAAGCCCCAATGGGAACGAGAGGCACCCAGGCCTTTCCCTTCCTGCAACCCCCACAGCAACAACCCATGGCAGGGAGAAGGACTGGGGTGGCCAGAGACAGCCAGAGATTCAGGCGACAAGGGACAGGACAGGAATGAGGATGAGGGACAGGAGAGGGGACAGGGAAGGGGTAAGAGAGCACCTGGGTTCCCGGCCAAGCTGTACAGGCTCTCCCATGGGGTACTGAGCACGGACCAGTCCCCATCCACGAAGAAACGGTGGCCCACGGGGTGGCAGAGCCACTGCATGGCAGGAGGCACTGAGCCACTCTGTGCCAGGCAGGCCTGGCGGGCACTGCTCAGGAAGAAGCGCTGTAGGGGAGGGTACTGGGCTGTCACAGTGGACACAGCCTGGGGCCAGACCCCGGGCCGAGTCCCAGCTTGGCCTGGAGTCCCCCTGGTAACCACTGCCACATCCCGTGTAGCTCTTACCCAGGGAGCCTCTGGAGAGAGCTGCAGGGATAAGCCCCCAGCCCCCCAACCCACTCACTGTCAGAAAATGCAAGGCCCGTGGGAGACTGGTCTTCACTCTCAATGCAGCCGCCACATAGATCTCGGCCAGCGTCGCCACAGACACGGCATCCCCTGCACACTCTGCCAGGTTCAGGGCACTCAGCGCCAGGTTGGTGGCAGTGAGGTGCCCGCCTGTGTGCTTCCCTGGAAGGCAAGCAGGCATGAGGCTGTGGGTGGAGCACAGGCAGCAGGGAGCACCTCGGAGCCCGCCCCACGCTCAGTCCTACCCATGGTGTGCAGCTGGTGCAGCTTATGGTAGACCAGGGCTGCGTCTCGGGCGCTGGCGCTAGCATCCACTCGCAGAGCACAGTCCTGCTGCAGGCCCCCTGCCCGGCCTGCCAGCCAGCGGCCCACCCAGAGACGCTGCAGCAGGTGACGGATGAGGTTCCAGAGGAGGCTACAAGCCAGGTCCAGGTGGGAGGTGGGCAGGGGCCGGCCCAGTGCCCGCAGGGCCAGCCACAGCTGCTGGGCAGCCTGGGCAAAGTCTCCCTGTGGATGAGGGTTTTCCAGGTGAGAAAAGTGAGGTCAGAGCAGCTGCCCCAAAGCTCAGAAGAGCCGTCCACAGCAGGCTCTGGAGGGGTGGTGGGGGTCTGCGGATGCGTGGCTAGGCACAGGGAGGACGGGACAGATTCATGGTGTGCACAGGGAGCAGGAACAAGGGTTGACACCCAGCACCTTCACAGCCTGGGGTCCCTGCCCTGCCCACTCTGCCGGGGCCAGCCCCTTACCCGGGCCAGGTCCAGGTCAGCCTGCTTGCGATGCCTCCAGAAGTACACGGCGGGGCCTGAGTGGGGCCGTGTGACTGGCTCACCGTAGACAAAGAGAAGCACCAAGGAGACGAGCACCAACAGCCCATTGAGCAGCCAGACCACTGGGGGCAGCAGCCACTGGGCCCAGCCAGGGCCATCTATGGACAGAGGGAAAGCTGGGGACACAGCTCCCAGGAAATCCAGAGCCCCAAGTTCACAAGCCTGGGGGCTCACCCCGAGTGTCCCTCCCAAAGATGCCCAGGCTGGCCGGTCCCACCTCTGCTCTCGGTGCCCAGCACGTTGCGCCCAGGGCTATGGTAGACGCTGGTGGTATCTGAGGGGCTGGGAAGCCCCCGGGCCCCCAGCAAGGAGGCCAAGGGGTTGCAGGACAGGCAGAGGAAGACGAGCGTGCACAGGGCCAGGCGGGAGCGGTCCAGCATGCCCCGGCTGTGCAGAGACGGCCGCTGCTCTGGCTTTGCCTGGTGGGGTTGGGCAGGGTGGTGAGGGCAGAATCGGAGGGACCCCAGAGAGCATGGGGCTGGGAAGGGGGGGGTCAGGATTCTGCCCACCTTACTGTGGGACCCCACGTGGCTCCAGGCCTCAGTTATTCTGTCTATGAAATGGGAGGTAGGATCTGTTAGGGTCTTCCCGGCCCTGTCATGAGGCTCAGAGGATATGGCTGGGAGTGGGGAAGGGGGCACCGTGGCAGGGCCCAACCTTGCTGTCCTCAAAGACTGGGCTGTCAGGCTCCGAGTCACTGCCACTGCCACCGCTGCCACTGCCCCTGCTGCCAAGGGACAAGGGGCTGCTCTGGAAAGGTGAGCCAGCATCCGAGGGGGGTGGGGTCAGTGTGTCCTCCACCTCAGTCTTCACGCCCTCCATGAGCACGTCTGTGTTCCCTCCACTGCCACAGGCCGACACCAGATCCTTCAGAGATTCTGTGGGCCGAAAGGAACAGAGCCAGGAGTAAAGGCTGGATATGTGACCCCAAATCAGAGCCTAGGCCCTTGGAGGCCTAGGGACTACTGTAGCTCCTAAAGCTAGCCCAGGACGCTTTGATGGGGCTGGGTTAGGGCCAAAGGGAGGCACCAGGTCTCTTTCAGGACCAGAGGTAACCAAGGGACTAGAGCTGAATGCAGGGCTACAGCCAAGGGTGAGGTGGGCAGGGCAGAGGGTGGGCCAGAACCAAGGGTGGGGTGGGGCTAGGGATGGGGTGGGGCCGGGAGGTGGAGCAAGGCTAGAGAAGAGGCCAGACTGGAGCTCAATAAAGCCAGGACTCACTGCTTTTGTGGACAGCAGTGCGCAGACTTAGGTTCTCCTGCTTGAGTTTCTGGTTGCTGTGTTGCAGAAAGCGAATGTAGTCGATGGCCTTGCGCAAGACAGCAGATTTATTCAGCTGCACGGTGTGGGAGGGAGGGGGAGCGCACAGGTGGCCTGTCAGGTCGGGGGTTGTGGGGTTGGAGAGCCCTAGCAAGGGGGTGCGGAGCTGCTTTGCAACATTACTGCCTCAGGACCTTTGCACTTGTTCCTTCTACCTGAACCGTTCCTCGCCTAGTAGCACCCACCTCCCAGGCCGGGCATAGGGTTAGAATGTAAGATGCAGACAGCAGGGTCTGGCTAGCTGCTGCTGTGCCTGCCGCCATCTCAGGGAGGCCTTCCCTGGCTACCACCAGGGGACCCTCACCATCCTCTTCCTGCTTTCTCTGCAACGAGCCAAACGTGGTGGTCTCGAGCACTTATTCATCCTGCCTACTGTCCATCTCCCCCACCAGAAGGTCGGCTCTTCTTTGAGGGACAATTTTTGTCTGTCTTGTTCATTGCTGCATCCCCAATGCCTAGCACAGCCCCACCTTTATTGAAGAGGCCTGCAAACCAGTTTAACTAAATAAACGAGGCTGGCCAGGCCTGGGGAGGCTGAATTCCAATTCCCTGCTTGTCCAGGCTCAGTCTCACTCCCTCTCTTCCTTCCAGTTGCCCCTGATCTGTTCCTTCCTAGGGACACCCCGGTCTGTGCCCCTGCAGGCCTCTCCACACCTTTGCCTCAGTGCCCACCACCAGATCCTTGAGCTCAATGATTTTGTCATTGATGGAGGAGCGGTAGCGCTTCTCAATGGCGTTGTGGGCTGTGCGCTTCTCTCCACGGCTCTGGGCAGAGGCCGGGGCCTTGCTGCCAGCTGCGAGCCGGTTGATAGGCAGCTTCTCCGCATCTACGACCAGTGGGACTGTTGCCAAGATGGTTCCGCCACTCACCAGGGTCTGCAGGGCCAGGCACATGTTACCAGGTGGGCATGTGTGTGTGTGTGTAGACCCCACTCCCTTATGCCCTGCCCACGTCACCCACC 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CCCCATCAGCTGACCCAGGGCTGGGGTTGGGCTGGGTCACACAGTTCAGTGCTCGCTCTAAGAGATGTTCCCGGAATAGCTGAGTCACCTGGGCCAGGGGGTCCACTGTGGAGAGGAGGAGGTGAGTGGGGTGGGGAGCAGGGCCCCACCCTCCTCTCCAAGCTAAGGGCTTTTTCCTGGGTGGGCTGGGGCCACACCTAGGGCCACTGGGAAGTGCCGGCATGCCCCTGGGTGCAGCCCCTGCCAAGGACAGGGGAAAGCGGGTGGACATAACTATCACCAGCACCAGCCTTGGCCAGGAGACAACACTGAGGCCTGCCCTACACTGCTTCCAAAGGAAAACCGACTTGAGAAGATGCCATTGTTGGCTCCGCTTCCTTACTCCACAGCGGCACTGCCTGGGGTCACTTCTCCAATTAGCCATCTGCCCATCAATCCCTGCATGTGCTTCTGAAAGCCCCAATGGGAACGAGAGGCACCCAGGCCTTTCCCTTCCTGCAACCCCCACAGCAACAACCCATGGCAGGGAGAAGGACTGGGGTGGCCAGAGACAGCCAGAGATTCAGGCGACAAGGGACAGGACAGGAATGAGGATGAGGGACAGGAGAGGGGACAGGGAAGGGGTAAGAGAGCACCTGGGTTCCCGGCCAAGCTGTACAGGCTCTCCCATGGGGTACTGAGCACGGACCAGTCCCCATCCACGAAGAAACGGTGGCCCACGGGGTGGCAGAGCCACTGCATGGCAGGAGGCACTGAGCCACTCTGTGCCAGGCAGGCCTGGCGGGCACTGCTCAGGAAGAAGCGCTGTAGGGGAGGGTACTGGGCTGTCACAGTGGACACAGCCTGGGGCCAGACCCCGGGCCGAGTCCCAGCTTGGCCTGGAGTCCCCCTGGTAACCACTGCCACATCCCGTGTAGCTCTTACCCAGGGAGCCTCTGGAGAGAGCTGCAGGGATAAGCCCCCAGCCCCCCAACCCACTCACTGTCAGAAAATGCAAGGCCCGTGGGAGACTGGTCTTCACTCTCAATGCAGCCGCCACATAGATCTCGGCCAGCGTCGCCACAGACACGGCATCCCCTGCACACTCTGCCAGGTTCAGGGCACTCAGCGCCAGGTTGGTGGCAGTGAGGTGCCCGCCTGTGTGCTTCCCTGGAAGGCAAGCAGGCATGAGGCTGTGGGTGGAGCACAGGCAGCAGGGAGCACCTCGGAGCCCGCCCCACGCTCAGTCCTACCCATGGTGTGCAGCTGGTGCAGCTTATGGTAGACCAGGGCTGCGTCTCGGGCGCTGGCGCTAGCATCCACTCGCAGAGCACAGTCCTGCTGCAGGCCCCCTGCCCGGCCTGCCAGCCAGCGGCCCACCCAGAGACGCTGCAGCAGGTGACGGATGAGGTTCCAGAGGAGGCTACAAGCCAGGTCCAGGTGGGAGGTGGGCAGGGGCCGGCCCAGTGCCCGCAGGGCCAGCCACAGCTGCTGGGCAGCCTGGGCAAAGTCTCCCTGTGGATGAGGGTTTTCCAGGTGAGAAAAGTGAGGTCAGAGCAGCTGCCCCAAAGCTCAGAAGAGCCGTCCACAGCAGGCTCTGGAGGGGTGGTGGGGGTCTGCGGATGCGTGGCTAGGCACAGGGAGGACGGGACAGATTCATGGTGTGCACAGGGAGCAGGAACAAGGGTTGACACCCAGCACCTTCACAGCCTGGGGTCCCTGCCCTGCCCACTCTGCCGGGGCCAGCCCCTTACCCGGGCCAGGTCCAGGTCAGCCTGCTTGCGATGCCTCCAGAAGTACACGGCGGGGCCTGAGTGGGGCCGTGTGACTGGCTCACCGTAGACAAAGAGAAGCACCAAGGAGACGAGCACCAACAGCCCATTGAGCAGCCAGACCACTGGGGGCAGCAGCCACTGGGCCCAGCCAGGGCCATCTATGGACAGAGGGAAAGCTGGGGACACAGCTCCCAGGAAATCCAGAGCCCCAAGTTCACAAGCCTGGGGGCTCACCCCGAGTGTCCCTCCCAAAGATGCCCAGGCTGGCCGGTCCCACCTCTGCTCTCGGTGCCCGGCACGTTGCGCCCAGGGCTATGGTAGACGCTGGTGGTATCTGAGGGGCTGGGAAGCCCCCGGGCCCCCAGCAAGGAGGCCAAGGGGTTGCAGGACAGGCAGAGGAAGACGAGCGTGCACAGGGCCAGGCGGGAGCGGTCCAGCATGCCCCGGCTGTGCAGAGACGGCCGCTGCTCTGGCTTTGCCTGGTGGGGTTGGGCAGGGTGGTGAGGGCAGAATCGGAGGGACCCCAGAGAGCATGGGGCTGGGAAGGGGGGGGTCAGGATTCTGCCCACCTTACTGTGGGACCCCACGTGGCTCCAGGCCTCAGTTATTCTGTCTATGAAATGGGAGGTAGGATCTGTTAGGGTCTTCCCGGCCCTGTCATGAGGCTCAGAGGATATGGCTGGGAGTGGGGAAGGGGGCACCGTGGCAGGGCCCAACCTTGCTGTCCTCAAAGACTGGGCTGTCAGGCTCCGAGTCACTGCCACTGCCACCGCTGCCACTGCCCCTGCTGCCAAGGGACAAGGGGCTGCTCTGGAAAGGTGAGCCAGCATCCGAGGGGGGTGGGGTCAGTGTGTCCTCCACCTCAGTCTTCACGCCCTCCATGAGCACGTCTGTGTTCCCTCCACTGCCACAGGCCGACACCAGATCCTTCAGAGATTCTGTGGGCCGAAAGGAACAGAGCCAGGAGTAAAGGCTGGATATGTGACCCCAAATCAGAGCCTAGGCCCTTGGAGGCCTAGGGACTACTGTAGCTCCTAAAGCTAGCCCAGGACGCTTTGATGGGGCTGGGTTAGGGCCAAAGGGAGGCACCAGGTCTCTTTCAGGACCAGAGGTAACCAAGGGACTAGAGCTGAATGCAGGGCTACAGCCAAGGGTGAGGTGGGCAGGGCAGAGGGTGGGCCAGAACCAAGGGTGGGGTGGGGCTAGGGATGGGGTGGGGCCGGGAGGTGGAGCAAGGCTAGAGAAGAGGCCAGACTGGAGCTCAATAAAGCCAGGACTCACTGCTTTTGTGGACAGCAGTGCGCAGACTTAGGTTCTCCTGCTTGAGTTTCTGGTTGCTGTGTTGCAGAAAGCGAATGTAGTCGATGGCCTTGCGCAAGACAGCAGATTTATTCAGCTGCACGGTGTGGGAGGGAGGGGGAGCGCACAGGTGGCCTGTCAGGTCGGGGGTTGTGGGGTTGGAGAGCCCTAGCAAGGGGGTGCGGAGCTGCTTTGCAACATTACTGCCTCAGGACCTTTGCACTTGTTCCTTCTACCTGAACCGTTCCTCGCCTAGTAGCACCCACCTCCCAGGCCGGGCATAGGGTTAGAATGTAAGATGCAGACAGCAGGGTCTGGCTAGCTGCTGCTGTGCCTGCCGCCATCTCAGGGAGGCCTTCCCTGGCTACCACCAGGGGACCCTCACCATCCTCTTCCTGCTTTCTCTGCAACGAGCCAAACGTGGTGGTCTCGAGCACTTATTCATCCTGCCTACTGTCCATCTCCCCCACCAGAAGGTCGGCTCTTCTTTGAGGGACAATTTTTGTCTGTCTTGTTCATTGCTGCATCCCCAATGCCTAGCACAGCCCCACCTTTATTGAAGAGGCCTGCAAACCAGTTTAACTAAATAAACGAGGCTGGCCAGGCCTGGGGAGGCTGAATTCCAATTCCCTGCTTGTCCAGGCTCAGTCTCACTCCCTCTCTTCCTTCCAGTTGCCCCTGATCTGTTCCTTCCTAGGGACACCCCGGTCTGTGCCCCTGCAGGCCTCTCCACACCTTTGCCTCAGTGCCCACCACCAGATCCTTGAGCTCAATGATTTTGTCATTGATGGAGGAGCGGTAGCGCTTCTCAATGGCGTTGTGGGCTGTGCGCTTCTCTCCACGGCTCTGGGCAGAGGCCGGGGCCTTGCTGCCAGCTGCGAGCCGGTTGATAGGCAGCTTCTCCGCATCTACGACCAGTGGGACTGTTGCCAAGATGGTTCCGCCACTCACCAGGGTCTGCAGGGCCAGGCACATGTTACCAGGTGGGCATGTGTGTGTGTGTGTAGACCCCACTCCCTTATGCCCTGCCCACGTCACCCACC 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Task1_train_23844 | Given this context: Chromosome 17, gene SREBF1 (sterol regulatory element binding transcription factor 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; IFAP syndrome 2 | CCCCATCAGCTGACCCAGGGCTGGGGTTGGGCTGGGTCACACAGTTCAGTGCTCGCTCTAAGAGATGTTCCCGGAATAGCTGAGTCACCTGGGCCAGGGGGTCCACTGTGGAGAGGAGGAGGTGAGTGGGGTGGGGAGCAGGGCCCCACCCTCCTCTCCAAGCTAAGGGCTTTTTCCTGGGTGGGCTGGGGCCACACCTAGGGCCACTGGGAAGTGCCGGCATGCCCCTGGGTGCAGCCCCTGCCAAGGACAGGGGAAAGCGGGTGGACATAACTATCACCAGCACCAGCCTTGGCCAGGAGACAACACTGAGGCCTGCCCTACACTGCTTCCAAAGGAAAACCGACTTGAGAAGATGCCATTGTTGGCTCCGCTTCCTTACTCCACAGCGGCACTGCCTGGGGTCACTTCTCCAATTAGCCATCTGCCCATCAATCCCTGCATGTGCTTCTGAAAGCCCCAATGGGAACGAGAGGCACCCAGGCCTTTCCCTTCCTGCAACCCCCACAGCAACAACCCATGGCAGGGAGAAGGACTGGGGTGGCCAGAGACAGCCAGAGATTCAGGCGACAAGGGACAGGACAGGAATGAGGATGAGGGACAGGAGAGGGGACAGGGAAGGGGTAAGAGAGCACCTGGGTTCCCGGCCAAGCTGTACAGGCTCTCCCATGGGGTACTGAGCACGGACCAGTCCCCATCCACGAAGAAACGGTGGCCCACGGGGTGGCAGAGCCACTGCATGGCAGGAGGCACTGAGCCACTCTGTGCCAGGCAGGCCTGGCGGGCACTGCTCAGGAAGAAGCGCTGTAGGGGAGGGTACTGGGCTGTCACAGTGGACACAGCCTGGGGCCAGACCCCGGGCCGAGTCCCAGCTTGGCCTGGAGTCCCCCTGGTAACCACTGCCACATCCCGTGTAGCTCTTACCCAGGGAGCCTCTGGAGAGAGCTGCAGGGATAAGCCCCCAGCCCCCCAACCCACTCACTGTCAGAAAATGCAAGGCCCGTGGGAGACTGGTCTTCACTCTCAATGCAGCCGCCACATAGATCTCGGCCAGCGTCGCCACAGACACGGCATCCCCTGCACACTCTGCCAGGTTCAGGGCACTCAGCGCCAGGTTGGTGGCAGTGAGGTGCCCGCCTGTGTGCTTCCCTGGAAGGCAAGCAGGCATGAGGCTGTGGGTGGAGCACAGGCAGCAGGGAGCACCTCGGAGCCCGCCCCACGCTCAGTCCTACCCATGGTGTGCAGCTGGTGCAGCTTATGGTAGACCAGGGCTGCGTCTCGGGCGCTGGCGCTAGCATCCACTCGCAGAGCACAGTCCTGCTGCAGGCCCCCTGCCCGGCCTGCCAGCCAGCGGCCCACCCAGAGACGCTGCAGCAGGTGACGGATGAGGTTCCAGAGGAGGCTACAAGCCAGGTCCAGGTGGGAGGTGGGCAGGGGCCGGCCCAGTGCCCGCAGGGCCAGCCACAGCTGCTGGGCAGCCTGGGCAAAGTCTCCCTGTGGATGAGGGTTTTCCAGGTGAGAAAAGTGAGGTCAGAGCAGCTGCCCCAAAGCTCAGAAGAGCCGTCCACAGCAGGCTCTGGAGGGGTGGTGGGGGTCTGCGGATGCGTGGCTAGGCACAGGGAGGACGGGACAGATTCATGGTGTGCACAGGGAGCAGGAACAAGGGTTGACACCCAGCACCTTCACAGCCTGGGGTCCCTGCCCTGCCCACTCTGCCGGGGCCAGCCCCTTACCCGGGCCAGGTCCAGGTCAGCCTGCTTGCGATGCCTCCAGAAGTACACGGCGGGGCCTGAGTGGGGCCGTGTGACTGGCTCACCGTAGACAAAGAGAAGCACCAAGGAGACGAGCACCAACAGCCCATTGAGCAGCCAGACCACTGGGGGCAGCAGCCACTGGGCCCAGCCAGGGCCATCTATGGACAGAGGGAAAGCTGGGGACACAGCTCCCAGGAAATCCAGAGCCCCAAGTTCACAAGCCTGGGGGCTCACCCCGAGTGTCCCTCCCAAAGATGCCCAGGCTGGCCGGTCCCACCTCTGCTCTCGGTGCCCAGCACGTTGCGCCCAGGGCTATGGTAGACGCTGGTGGTATCTGAGGGGCTGGGAAGCCCCCGGGCCCCCAGCAAGGAGGCCAAGGGGTTGCAGGACAGGCAGAGGAAGACGAGCGTGCACAGGGCCAGGCGGGAGCGGTCCAGCATGCCCCGGCTGTGCAGAGACGGCCGCTGCTCTGGCTTTGCCTGGTGGGGTTGGGCAGGGTGGTGAGGGCAGAATCGGAGGGACCCCAGAGAGCATGGGGCTGGGAAGGGGGGGGTCAGGATTCTGCCCACCTTACTGTGGGACCCCACGTGGCTCCAGGCCTCAGTTATTCTGTCTATGAAATGGGAGGTAGGATCTGTTAGGGTCTTCCCGGCCCTGTCATGAGGCTCAGAGGATATGGCTGGGAGTGGGGAAGGGGGCACCGTGGCAGGGCCCAACCTTGCTGTCCTCAAAGACTGGGCTGTCAGGCTCCGAGTCACTGCCACTGCCACCGCTGCCACTGCCCCTGCTGCCAAGGGACAAGGGGCTGCTCTGGAAAGGTGAGCCAGCATCCGAGGGGGGTGGGGTCAGTGTGTCCTCCACCTCAGTCTTCACGCCCTCCATGAGCACGTCTGTGTTCCCTCCACTGCCACAGGCCGACACCAGATCCTTCAGAGATTCTGTGGGCCGAAAGGAACAGAGCCAGGAGTAAAGGCTGGATATGTGACCCCAAATCAGAGCCTAGGCCCTTGGAGGCCTAGGGACTACTGTAGCTCCTAAAGCTAGCCCAGGACGCTTTGATGGGGCTGGGTTAGGGCCAAAGGGAGGCACCAGGTCTCTTTCAGGACCAGAGGTAACCAAGGGACTAGAGCTGAATGCAGGGCTACAGCCAAGGGTGAGGTGGGCAGGGCAGAGGGTGGGCCAGAACCAAGGGTGGGGTGGGGCTAGGGATGGGGTGGGGCCGGGAGGTGGAGCAAGGCTAGAGAAGAGGCCAGACTGGAGCTCAATAAAGCCAGGACTCACTGCTTTTGTGGACAGCAGTGCGCAGACTTAGGTTCTCCTGCTTGAGTTTCTGGTTGCTGTGTTGCAGAAAGCGAATGTAGTCGATGGCCTTGCGCAAGACAGCAGATTTATTCAGCTGCACGGTGTGGGAGGGAGGGGGAGCGCACAGGTGGCCTGTCAGGTCGGGGGTTGTGGGGTTGGAGAGCCCTAGCAAGGGGGTGCGGAGCTGCTTTGCAACATTACTGCCTCAGGACCTTTGCACTTGTTCCTTCTACCTGAACCGTTCCTCGCCTAGTAGCACCCACCTCCCAGGCCGGGCATAGGGTTAGAATGTAAGATGCAGACAGCAGGGTCTGGCTAGCTGCTGCTGTGCCTGCCGCCATCTCAGGGAGGCCTTCCCTGGCTACCACCAGGGGACCCTCACCATCCTCTTCCTGCTTTCTCTGCAACGAGCCAAACGTGGTGGTCTCGAGCACTTATTCATCCTGCCTACTGTCCATCTCCCCCACCAGAAGGTCGGCTCTTCTTTGAGGGACAATTTTTGTCTGTCTTGTTCATTGCTGCATCCCCAATGCCTAGCACAGCCCCACCTTTATTGAAGAGGCCTGCAAACCAGTTTAACTAAATAAACGAGGCTGGCCAGGCCTGGGGAGGCTGAATTCCAATTCCCTGCTTGTCCAGGCTCAGTCTCACTCCCTCTCTTCCTTCCAGTTGCCCCTGATCTGTTCCTTCCTAGGGACACCCCGGTCTGTGCCCCTGCAGGCCTCTCCACACCTTTGCCTCAGTGCCCACCACCAGATCCTTGAGCTCAATGATTTTGTCATTGATGGAGGAGCGGTAGCGCTTCTCAATGGCGTTGTGGGCTGTGCGCTTCTCTCCACGGCTCTGGGCAGAGGCCGGGGCCTTGCTGCCAGCTGCGAGCCGGTTGATAGGCAGCTTCTCCGCATCTACGACCAGTGGGACTGTTGCCAAGATGGTTCCGCCACTCACCAGGGTCTGCAGGGCCAGGCACATGTTACCAGGTGGGCATGTGTGTGTGTGTGTAGACCCCACTCCCTTATGCCCTGCCCACGTCACCCACC 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CCCCATCAGCTGACCCAGGGCTGGGGTTGGGCTGGGTCACACAGTTCAGTGCTCGCTCTAAGAGATGTTCCCGGAATAGCTGAGTCACCTGGGCCAGGGGGTCCACTGTGGAGAGGAGGAGGTGAGTGGGGTGGGGAGCAGGGCCCCACCCTCCTCTCCAAGCTAAGGGCTTTTTCCTGGGTGGGCTGGGGCCACACCTAGGGCCACTGGGAAGTGCCGGCATGCCCCTGGGTGCAGCCCCTGCCAAGGACAGGGGAAAGCGGGTGGACATAACTATCACCAGCACCAGCCTTGGCCAGGAGACAACACTGAGGCCTGCCCTACACTGCTTCCAAAGGAAAACCGACTTGAGAAGATGCCATTGTTGGCTCCGCTTCCTTACTCCACAGCGGCACTGCCTGGGGTCACTTCTCCAATTAGCCATCTGCCCATCAATCCCTGCATGTGCTTCTGAAAGCCCCAATGGGAACGAGAGGCACCCAGGCCTTTCCCTTCCTGCAACCCCCACAGCAACAACCCATGGCAGGGAGAAGGACTGGGGTGGCCAGAGACAGCCAGAGATTCAGGCGACAAGGGACAGGACAGGAATGAGGATGAGGGACAGGAGAGGGGACAGGGAAGGGGTAAGAGAGCACCTGGGTTCCCGGCCAAGCTGTACAGGCTCTCCCATGGGGTACTGAGCACGGACCAGTCCCCATCCACGAAGAAACGGTGGCCCACGGGGTGGCAGAGCCACTGCATGGCAGGAGGCACTGAGCCACTCTGTGCCAGGCAGGCCTGGCGGGCACTGCTCAGGAAGAAGCGCTGTAGGGGAGGGTACTGGGCTGTCACAGTGGACACAGCCTGGGGCCAGACCCCGGGCCGAGTCCCAGCTTGGCCTGGAGTCCCCCTGGTAACCACTGCCACATCCCGTGTAGCTCTTACCCAGGGAGCCTCTGGAGAGAGCTGCAGGGATAAGCCCCCAGCCCCCCAACCCACTCACTGTCAGAAAATGCAAGGCCCGTGGGAGACTGGTCTTCACTCTCAATGCAGCCGCCACATAGATCTCGGCCAGCGTCGCCACAGACACGGCATCCCCTGCACACTCTGCCAGGTTCAGGGCACTCAGCGCCAGGTTGGTGGCAGTGAGGTGCCCGCCTGTGTGCTTCCCTGGAAGGCAAGCAGGCATGAGGCTGTGGGTGGAGCACAGGCAGCAGGGAGCACCTCGGAGCCCGCCCCACGCTCAGTCCTACCCATGGTGTGCAGCTGGTGCAGCTTATGGTAGACCAGGGCTGCGTCTCGGGCGCTGGCGCTAGCATCCACTCGCAGAGCACAGTCCTGCTGCAGGCCCCCTGCCCGGCCTGCCAGCCAGCGGCCCACCCAGAGACGCTGCAGCAGGTGACGGATGAGGTTCCAGAGGAGGCTACAAGCCAGGTCCAGGTGGGAGGTGGGCAGGGGCCGGCCCAGTGCCCGCAGGGCCAGCCACAGCTGCTGGGCAGCCTGGGCAAAGTCTCCCTGTGGATGAGGGTTTTCCAGGTGAGAAAAGTGAGGTCAGAGCAGCTGCCCCAAAGCTCAGAAGAGCCGTCCACAGCAGGCTCTGGAGGGGTGGTGGGGGTCTGCGGATGCGTGGCTAGGCACAGGGAGGACGGGACAGATTCATGGTGTGCACAGGGAGCAGGAACAAGGGTTGACACCCAGCACCTTCACAGCCTGGGGTCCCTGCCCTGCCCACTCTGCCGGGGCCAGCCCCTTACCCGGGCCAGGTCCAGGTCAGCCTGCTTGCGATGCCTCCAGAAGTACACGGCGGGGCCTGAGTGGGGCCGTGTGACTGGCTCACCGTAGACAAAGAGAAGCACCAAGGAGACGAGCACCAACAGCCCATTGAGCAGCCAGACCACTGGGGGCAGCAGCCACTGGGCCCAGCCAGGGCCATCTATGGACAGAGGGAAAGCTGGGGACACAGCTCCCAGGAAATCCAGAGCCCCAAGTTCACAAGCCTGGGGGCTCACCCCGAGTGTCCCTCCCAAAGATGCCCAGGCTGGCCGGTCCCACCTCTGCTCTCGGTGCCCGGCACGTTGCGCCCAGGGCTATGGTAGACGCTGGTGGTATCTGAGGGGCTGGGAAGCCCCCGGGCCCCCAGCAAGGAGGCCAAGGGGTTGCAGGACAGGCAGAGGAAGACGAGCGTGCACAGGGCCAGGCGGGAGCGGTCCAGCATGCCCCGGCTGTGCAGAGACGGCCGCTGCTCTGGCTTTGCCTGGTGGGGTTGGGCAGGGTGGTGAGGGCAGAATCGGAGGGACCCCAGAGAGCATGGGGCTGGGAAGGGGGGGGTCAGGATTCTGCCCACCTTACTGTGGGACCCCACGTGGCTCCAGGCCTCAGTTATTCTGTCTATGAAATGGGAGGTAGGATCTGTTAGGGTCTTCCCGGCCCTGTCATGAGGCTCAGAGGATATGGCTGGGAGTGGGGAAGGGGGCACCGTGGCAGGGCCCAACCTTGCTGTCCTCAAAGACTGGGCTGTCAGGCTCCGAGTCACTGCCACTGCCACCGCTGCCACTGCCCCTGCTGCCAAGGGACAAGGGGCTGCTCTGGAAAGGTGAGCCAGCATCCGAGGGGGGTGGGGTCAGTGTGTCCTCCACCTCAGTCTTCACGCCCTCCATGAGCACGTCTGTGTTCCCTCCACTGCCACAGGCCGACACCAGATCCTTCAGAGATTCTGTGGGCCGAAAGGAACAGAGCCAGGAGTAAAGGCTGGATATGTGACCCCAAATCAGAGCCTAGGCCCTTGGAGGCCTAGGGACTACTGTAGCTCCTAAAGCTAGCCCAGGACGCTTTGATGGGGCTGGGTTAGGGCCAAAGGGAGGCACCAGGTCTCTTTCAGGACCAGAGGTAACCAAGGGACTAGAGCTGAATGCAGGGCTACAGCCAAGGGTGAGGTGGGCAGGGCAGAGGGTGGGCCAGAACCAAGGGTGGGGTGGGGCTAGGGATGGGGTGGGGCCGGGAGGTGGAGCAAGGCTAGAGAAGAGGCCAGACTGGAGCTCAATAAAGCCAGGACTCACTGCTTTTGTGGACAGCAGTGCGCAGACTTAGGTTCTCCTGCTTGAGTTTCTGGTTGCTGTGTTGCAGAAAGCGAATGTAGTCGATGGCCTTGCGCAAGACAGCAGATTTATTCAGCTGCACGGTGTGGGAGGGAGGGGGAGCGCACAGGTGGCCTGTCAGGTCGGGGGTTGTGGGGTTGGAGAGCCCTAGCAAGGGGGTGCGGAGCTGCTTTGCAACATTACTGCCTCAGGACCTTTGCACTTGTTCCTTCTACCTGAACCGTTCCTCGCCTAGTAGCACCCACCTCCCAGGCCGGGCATAGGGTTAGAATGTAAGATGCAGACAGCAGGGTCTGGCTAGCTGCTGCTGTGCCTGCCGCCATCTCAGGGAGGCCTTCCCTGGCTACCACCAGGGGACCCTCACCATCCTCTTCCTGCTTTCTCTGCAACGAGCCAAACGTGGTGGTCTCGAGCACTTATTCATCCTGCCTACTGTCCATCTCCCCCACCAGAAGGTCGGCTCTTCTTTGAGGGACAATTTTTGTCTGTCTTGTTCATTGCTGCATCCCCAATGCCTAGCACAGCCCCACCTTTATTGAAGAGGCCTGCAAACCAGTTTAACTAAATAAACGAGGCTGGCCAGGCCTGGGGAGGCTGAATTCCAATTCCCTGCTTGTCCAGGCTCAGTCTCACTCCCTCTCTTCCTTCCAGTTGCCCCTGATCTGTTCCTTCCTAGGGACACCCCGGTCTGTGCCCCTGCAGGCCTCTCCACACCTTTGCCTCAGTGCCCACCACCAGATCCTTGAGCTCAATGATTTTGTCATTGATGGAGGAGCGGTAGCGCTTCTCAATGGCGTTGTGGGCTGTGCGCTTCTCTCCACGGCTCTGGGCAGAGGCCGGGGCCTTGCTGCCAGCTGCGAGCCGGTTGATAGGCAGCTTCTCCGCATCTACGACCAGTGGGACTGTTGCCAAGATGGTTCCGCCACTCACCAGGGTCTGCAGGGCCAGGCACATGTTACCAGGTGGGCATGTGTGTGTGTGTGTAGACCCCACTCCCTTATGCCCTGCCCACGTCACCCACC 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Task1_train_23845 | This is a variant in SREBF1 (sterol regulatory element binding transcription factor 1), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Hereditary mucoepithelial dysplasia | TGACCCAGGGCTGGGGTTGGGCTGGGTCACACAGTTCAGTGCTCGCTCTAAGAGATGTTCCCGGAATAGCTGAGTCACCTGGGCCAGGGGGTCCACTGTGGAGAGGAGGAGGTGAGTGGGGTGGGGAGCAGGGCCCCACCCTCCTCTCCAAGCTAAGGGCTTTTTCCTGGGTGGGCTGGGGCCACACCTAGGGCCACTGGGAAGTGCCGGCATGCCCCTGGGTGCAGCCCCTGCCAAGGACAGGGGAAAGCGGGTGGACATAACTATCACCAGCACCAGCCTTGGCCAGGAGACAACACTGAGGCCTGCCCTACACTGCTTCCAAAGGAAAACCGACTTGAGAAGATGCCATTGTTGGCTCCGCTTCCTTACTCCACAGCGGCACTGCCTGGGGTCACTTCTCCAATTAGCCATCTGCCCATCAATCCCTGCATGTGCTTCTGAAAGCCCCAATGGGAACGAGAGGCACCCAGGCCTTTCCCTTCCTGCAACCCCCACAGCAACAACCCATGGCAGGGAGAAGGACTGGGGTGGCCAGAGACAGCCAGAGATTCAGGCGACAAGGGACAGGACAGGAATGAGGATGAGGGACAGGAGAGGGGACAGGGAAGGGGTAAGAGAGCACCTGGGTTCCCGGCCAAGCTGTACAGGCTCTCCCATGGGGTACTGAGCACGGACCAGTCCCCATCCACGAAGAAACGGTGGCCCACGGGGTGGCAGAGCCACTGCATGGCAGGAGGCACTGAGCCACTCTGTGCCAGGCAGGCCTGGCGGGCACTGCTCAGGAAGAAGCGCTGTAGGGGAGGGTACTGGGCTGTCACAGTGGACACAGCCTGGGGCCAGACCCCGGGCCGAGTCCCAGCTTGGCCTGGAGTCCCCCTGGTAACCACTGCCACATCCCGTGTAGCTCTTACCCAGGGAGCCTCTGGAGAGAGCTGCAGGGATAAGCCCCCAGCCCCCCAACCCACTCACTGTCAGAAAATGCAAGGCCCGTGGGAGACTGGTCTTCACTCTCAATGCAGCCGCCACATAGATCTCGGCCAGCGTCGCCACAGACACGGCATCCCCTGCACACTCTGCCAGGTTCAGGGCACTCAGCGCCAGGTTGGTGGCAGTGAGGTGCCCGCCTGTGTGCTTCCCTGGAAGGCAAGCAGGCATGAGGCTGTGGGTGGAGCACAGGCAGCAGGGAGCACCTCGGAGCCCGCCCCACGCTCAGTCCTACCCATGGTGTGCAGCTGGTGCAGCTTATGGTAGACCAGGGCTGCGTCTCGGGCGCTGGCGCTAGCATCCACTCGCAGAGCACAGTCCTGCTGCAGGCCCCCTGCCCGGCCTGCCAGCCAGCGGCCCACCCAGAGACGCTGCAGCAGGTGACGGATGAGGTTCCAGAGGAGGCTACAAGCCAGGTCCAGGTGGGAGGTGGGCAGGGGCCGGCCCAGTGCCCGCAGGGCCAGCCACAGCTGCTGGGCAGCCTGGGCAAAGTCTCCCTGTGGATGAGGGTTTTCCAGGTGAGAAAAGTGAGGTCAGAGCAGCTGCCCCAAAGCTCAGAAGAGCCGTCCACAGCAGGCTCTGGAGGGGTGGTGGGGGTCTGCGGATGCGTGGCTAGGCACAGGGAGGACGGGACAGATTCATGGTGTGCACAGGGAGCAGGAACAAGGGTTGACACCCAGCACCTTCACAGCCTGGGGTCCCTGCCCTGCCCACTCTGCCGGGGCCAGCCCCTTACCCGGGCCAGGTCCAGGTCAGCCTGCTTGCGATGCCTCCAGAAGTACACGGCGGGGCCTGAGTGGGGCCGTGTGACTGGCTCACCGTAGACAAAGAGAAGCACCAAGGAGACGAGCACCAACAGCCCATTGAGCAGCCAGACCACTGGGGGCAGCAGCCACTGGGCCCAGCCAGGGCCATCTATGGACAGAGGGAAAGCTGGGGACACAGCTCCCAGGAAATCCAGAGCCCCAAGTTCACAAGCCTGGGGGCTCACCCCGAGTGTCCCTCCCAAAGATGCCCAGGCTGGCCGGTCCCACCTCTGCTCTCGGTGCCCAGCACGTTGCGCCCAGGGCTATGGTAGACGCTGGTGGTATCTGAGGGGCTGGGAAGCCCCCGGGCCCCCAGCAAGGAGGCCAAGGGGTTGCAGGACAGGCAGAGGAAGACGAGCGTGCACAGGGCCAGGCGGGAGCGGTCCAGCATGCCCCGGCTGTGCAGAGACGGCCGCTGCTCTGGCTTTGCCTGGTGGGGTTGGGCAGGGTGGTGAGGGCAGAATCGGAGGGACCCCAGAGAGCATGGGGCTGGGAAGGGGGGGGTCAGGATTCTGCCCACCTTACTGTGGGACCCCACGTGGCTCCAGGCCTCAGTTATTCTGTCTATGAAATGGGAGGTAGGATCTGTTAGGGTCTTCCCGGCCCTGTCATGAGGCTCAGAGGATATGGCTGGGAGTGGGGAAGGGGGCACCGTGGCAGGGCCCAACCTTGCTGTCCTCAAAGACTGGGCTGTCAGGCTCCGAGTCACTGCCACTGCCACCGCTGCCACTGCCCCTGCTGCCAAGGGACAAGGGGCTGCTCTGGAAAGGTGAGCCAGCATCCGAGGGGGGTGGGGTCAGTGTGTCCTCCACCTCAGTCTTCACGCCCTCCATGAGCACGTCTGTGTTCCCTCCACTGCCACAGGCCGACACCAGATCCTTCAGAGATTCTGTGGGCCGAAAGGAACAGAGCCAGGAGTAAAGGCTGGATATGTGACCCCAAATCAGAGCCTAGGCCCTTGGAGGCCTAGGGACTACTGTAGCTCCTAAAGCTAGCCCAGGACGCTTTGATGGGGCTGGGTTAGGGCCAAAGGGAGGCACCAGGTCTCTTTCAGGACCAGAGGTAACCAAGGGACTAGAGCTGAATGCAGGGCTACAGCCAAGGGTGAGGTGGGCAGGGCAGAGGGTGGGCCAGAACCAAGGGTGGGGTGGGGCTAGGGATGGGGTGGGGCCGGGAGGTGGAGCAAGGCTAGAGAAGAGGCCAGACTGGAGCTCAATAAAGCCAGGACTCACTGCTTTTGTGGACAGCAGTGCGCAGACTTAGGTTCTCCTGCTTGAGTTTCTGGTTGCTGTGTTGCAGAAAGCGAATGTAGTCGATGGCCTTGCGCAAGACAGCAGATTTATTCAGCTGCACGGTGTGGGAGGGAGGGGGAGCGCACAGGTGGCCTGTCAGGTCGGGGGTTGTGGGGTTGGAGAGCCCTAGCAAGGGGGTGCGGAGCTGCTTTGCAACATTACTGCCTCAGGACCTTTGCACTTGTTCCTTCTACCTGAACCGTTCCTCGCCTAGTAGCACCCACCTCCCAGGCCGGGCATAGGGTTAGAATGTAAGATGCAGACAGCAGGGTCTGGCTAGCTGCTGCTGTGCCTGCCGCCATCTCAGGGAGGCCTTCCCTGGCTACCACCAGGGGACCCTCACCATCCTCTTCCTGCTTTCTCTGCAACGAGCCAAACGTGGTGGTCTCGAGCACTTATTCATCCTGCCTACTGTCCATCTCCCCCACCAGAAGGTCGGCTCTTCTTTGAGGGACAATTTTTGTCTGTCTTGTTCATTGCTGCATCCCCAATGCCTAGCACAGCCCCACCTTTATTGAAGAGGCCTGCAAACCAGTTTAACTAAATAAACGAGGCTGGCCAGGCCTGGGGAGGCTGAATTCCAATTCCCTGCTTGTCCAGGCTCAGTCTCACTCCCTCTCTTCCTTCCAGTTGCCCCTGATCTGTTCCTTCCTAGGGACACCCCGGTCTGTGCCCCTGCAGGCCTCTCCACACCTTTGCCTCAGTGCCCACCACCAGATCCTTGAGCTCAATGATTTTGTCATTGATGGAGGAGCGGTAGCGCTTCTCAATGGCGTTGTGGGCTGTGCGCTTCTCTCCACGGCTCTGGGCAGAGGCCGGGGCCTTGCTGCCAGCTGCGAGCCGGTTGATAGGCAGCTTCTCCGCATCTACGACCAGTGGGACTGTTGCCAAGATGGTTCCGCCACTCACCAGGGTCTGCAGGGCCAGGCACATGTTACCAGGTGGGCATGTGTGTGTGTGTGTAGACCCCACTCCCTTATGCCCTGCCCACGTCACCCACCGGCAAAGGCC 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TGACCCAGGGCTGGGGTTGGGCTGGGTCACACAGTTCAGTGCTCGCTCTAAGAGATGTTCCCGGAATAGCTGAGTCACCTGGGCCAGGGGGTCCACTGTGGAGAGGAGGAGGTGAGTGGGGTGGGGAGCAGGGCCCCACCCTCCTCTCCAAGCTAAGGGCTTTTTCCTGGGTGGGCTGGGGCCACACCTAGGGCCACTGGGAAGTGCCGGCATGCCCCTGGGTGCAGCCCCTGCCAAGGACAGGGGAAAGCGGGTGGACATAACTATCACCAGCACCAGCCTTGGCCAGGAGACAACACTGAGGCCTGCCCTACACTGCTTCCAAAGGAAAACCGACTTGAGAAGATGCCATTGTTGGCTCCGCTTCCTTACTCCACAGCGGCACTGCCTGGGGTCACTTCTCCAATTAGCCATCTGCCCATCAATCCCTGCATGTGCTTCTGAAAGCCCCAATGGGAACGAGAGGCACCCAGGCCTTTCCCTTCCTGCAACCCCCACAGCAACAACCCATGGCAGGGAGAAGGACTGGGGTGGCCAGAGACAGCCAGAGATTCAGGCGACAAGGGACAGGACAGGAATGAGGATGAGGGACAGGAGAGGGGACAGGGAAGGGGTAAGAGAGCACCTGGGTTCCCGGCCAAGCTGTACAGGCTCTCCCATGGGGTACTGAGCACGGACCAGTCCCCATCCACGAAGAAACGGTGGCCCACGGGGTGGCAGAGCCACTGCATGGCAGGAGGCACTGAGCCACTCTGTGCCAGGCAGGCCTGGCGGGCACTGCTCAGGAAGAAGCGCTGTAGGGGAGGGTACTGGGCTGTCACAGTGGACACAGCCTGGGGCCAGACCCCGGGCCGAGTCCCAGCTTGGCCTGGAGTCCCCCTGGTAACCACTGCCACATCCCGTGTAGCTCTTACCCAGGGAGCCTCTGGAGAGAGCTGCAGGGATAAGCCCCCAGCCCCCCAACCCACTCACTGTCAGAAAATGCAAGGCCCGTGGGAGACTGGTCTTCACTCTCAATGCAGCCGCCACATAGATCTCGGCCAGCGTCGCCACAGACACGGCATCCCCTGCACACTCTGCCAGGTTCAGGGCACTCAGCGCCAGGTTGGTGGCAGTGAGGTGCCCGCCTGTGTGCTTCCCTGGAAGGCAAGCAGGCATGAGGCTGTGGGTGGAGCACAGGCAGCAGGGAGCACCTCGGAGCCCGCCCCACGCTCAGTCCTACCCATGGTGTGCAGCTGGTGCAGCTTATGGTAGACCAGGGCTGCGTCTCGGGCGCTGGCGCTAGCATCCACTCGCAGAGCACAGTCCTGCTGCAGGCCCCCTGCCCGGCCTGCCAGCCAGCGGCCCACCCAGAGACGCTGCAGCAGGTGACGGATGAGGTTCCAGAGGAGGCTACAAGCCAGGTCCAGGTGGGAGGTGGGCAGGGGCCGGCCCAGTGCCCGCAGGGCCAGCCACAGCTGCTGGGCAGCCTGGGCAAAGTCTCCCTGTGGATGAGGGTTTTCCAGGTGAGAAAAGTGAGGTCAGAGCAGCTGCCCCAAAGCTCAGAAGAGCCGTCCACAGCAGGCTCTGGAGGGGTGGTGGGGGTCTGCGGATGCGTGGCTAGGCACAGGGAGGACGGGACAGATTCATGGTGTGCACAGGGAGCAGGAACAAGGGTTGACACCCAGCACCTTCACAGCCTGGGGTCCCTGCCCTGCCCACTCTGCCGGGGCCAGCCCCTTACCCGGGCCAGGTCCAGGTCAGCCTGCTTGCGATGCCTCCAGAAGTACACGGCGGGGCCTGAGTGGGGCCGTGTGACTGGCTCACCGTAGACAAAGAGAAGCACCAAGGAGACGAGCACCAACAGCCCATTGAGCAGCCAGACCACTGGGGGCAGCAGCCACTGGGCCCAGCCAGGGCCATCTATGGACAGAGGGAAAGCTGGGGACACAGCTCCCAGGAAATCCAGAGCCCCAAGTTCACAAGCCTGGGGGCTCACCCCGAGTGTCCCTCCCAAAGATGCCCAGGCTGGCCGGTCCCACCTCTGCTCTCGGTGCCCAGCACGTTGCACCCAGGGCTATGGTAGACGCTGGTGGTATCTGAGGGGCTGGGAAGCCCCCGGGCCCCCAGCAAGGAGGCCAAGGGGTTGCAGGACAGGCAGAGGAAGACGAGCGTGCACAGGGCCAGGCGGGAGCGGTCCAGCATGCCCCGGCTGTGCAGAGACGGCCGCTGCTCTGGCTTTGCCTGGTGGGGTTGGGCAGGGTGGTGAGGGCAGAATCGGAGGGACCCCAGAGAGCATGGGGCTGGGAAGGGGGGGGTCAGGATTCTGCCCACCTTACTGTGGGACCCCACGTGGCTCCAGGCCTCAGTTATTCTGTCTATGAAATGGGAGGTAGGATCTGTTAGGGTCTTCCCGGCCCTGTCATGAGGCTCAGAGGATATGGCTGGGAGTGGGGAAGGGGGCACCGTGGCAGGGCCCAACCTTGCTGTCCTCAAAGACTGGGCTGTCAGGCTCCGAGTCACTGCCACTGCCACCGCTGCCACTGCCCCTGCTGCCAAGGGACAAGGGGCTGCTCTGGAAAGGTGAGCCAGCATCCGAGGGGGGTGGGGTCAGTGTGTCCTCCACCTCAGTCTTCACGCCCTCCATGAGCACGTCTGTGTTCCCTCCACTGCCACAGGCCGACACCAGATCCTTCAGAGATTCTGTGGGCCGAAAGGAACAGAGCCAGGAGTAAAGGCTGGATATGTGACCCCAAATCAGAGCCTAGGCCCTTGGAGGCCTAGGGACTACTGTAGCTCCTAAAGCTAGCCCAGGACGCTTTGATGGGGCTGGGTTAGGGCCAAAGGGAGGCACCAGGTCTCTTTCAGGACCAGAGGTAACCAAGGGACTAGAGCTGAATGCAGGGCTACAGCCAAGGGTGAGGTGGGCAGGGCAGAGGGTGGGCCAGAACCAAGGGTGGGGTGGGGCTAGGGATGGGGTGGGGCCGGGAGGTGGAGCAAGGCTAGAGAAGAGGCCAGACTGGAGCTCAATAAAGCCAGGACTCACTGCTTTTGTGGACAGCAGTGCGCAGACTTAGGTTCTCCTGCTTGAGTTTCTGGTTGCTGTGTTGCAGAAAGCGAATGTAGTCGATGGCCTTGCGCAAGACAGCAGATTTATTCAGCTGCACGGTGTGGGAGGGAGGGGGAGCGCACAGGTGGCCTGTCAGGTCGGGGGTTGTGGGGTTGGAGAGCCCTAGCAAGGGGGTGCGGAGCTGCTTTGCAACATTACTGCCTCAGGACCTTTGCACTTGTTCCTTCTACCTGAACCGTTCCTCGCCTAGTAGCACCCACCTCCCAGGCCGGGCATAGGGTTAGAATGTAAGATGCAGACAGCAGGGTCTGGCTAGCTGCTGCTGTGCCTGCCGCCATCTCAGGGAGGCCTTCCCTGGCTACCACCAGGGGACCCTCACCATCCTCTTCCTGCTTTCTCTGCAACGAGCCAAACGTGGTGGTCTCGAGCACTTATTCATCCTGCCTACTGTCCATCTCCCCCACCAGAAGGTCGGCTCTTCTTTGAGGGACAATTTTTGTCTGTCTTGTTCATTGCTGCATCCCCAATGCCTAGCACAGCCCCACCTTTATTGAAGAGGCCTGCAAACCAGTTTAACTAAATAAACGAGGCTGGCCAGGCCTGGGGAGGCTGAATTCCAATTCCCTGCTTGTCCAGGCTCAGTCTCACTCCCTCTCTTCCTTCCAGTTGCCCCTGATCTGTTCCTTCCTAGGGACACCCCGGTCTGTGCCCCTGCAGGCCTCTCCACACCTTTGCCTCAGTGCCCACCACCAGATCCTTGAGCTCAATGATTTTGTCATTGATGGAGGAGCGGTAGCGCTTCTCAATGGCGTTGTGGGCTGTGCGCTTCTCTCCACGGCTCTGGGCAGAGGCCGGGGCCTTGCTGCCAGCTGCGAGCCGGTTGATAGGCAGCTTCTCCGCATCTACGACCAGTGGGACTGTTGCCAAGATGGTTCCGCCACTCACCAGGGTCTGCAGGGCCAGGCACATGTTACCAGGTGGGCATGTGTGTGTGTGTGTAGACCCCACTCCCTTATGCCCTGCCCACGTCACCCACCGGCAAAGGCC 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Task1_train_23846 | Here is a mutation in SREBF1 (sterol regulatory element binding transcription factor 1) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; IFAP syndrome 2 | TGACCCAGGGCTGGGGTTGGGCTGGGTCACACAGTTCAGTGCTCGCTCTAAGAGATGTTCCCGGAATAGCTGAGTCACCTGGGCCAGGGGGTCCACTGTGGAGAGGAGGAGGTGAGTGGGGTGGGGAGCAGGGCCCCACCCTCCTCTCCAAGCTAAGGGCTTTTTCCTGGGTGGGCTGGGGCCACACCTAGGGCCACTGGGAAGTGCCGGCATGCCCCTGGGTGCAGCCCCTGCCAAGGACAGGGGAAAGCGGGTGGACATAACTATCACCAGCACCAGCCTTGGCCAGGAGACAACACTGAGGCCTGCCCTACACTGCTTCCAAAGGAAAACCGACTTGAGAAGATGCCATTGTTGGCTCCGCTTCCTTACTCCACAGCGGCACTGCCTGGGGTCACTTCTCCAATTAGCCATCTGCCCATCAATCCCTGCATGTGCTTCTGAAAGCCCCAATGGGAACGAGAGGCACCCAGGCCTTTCCCTTCCTGCAACCCCCACAGCAACAACCCATGGCAGGGAGAAGGACTGGGGTGGCCAGAGACAGCCAGAGATTCAGGCGACAAGGGACAGGACAGGAATGAGGATGAGGGACAGGAGAGGGGACAGGGAAGGGGTAAGAGAGCACCTGGGTTCCCGGCCAAGCTGTACAGGCTCTCCCATGGGGTACTGAGCACGGACCAGTCCCCATCCACGAAGAAACGGTGGCCCACGGGGTGGCAGAGCCACTGCATGGCAGGAGGCACTGAGCCACTCTGTGCCAGGCAGGCCTGGCGGGCACTGCTCAGGAAGAAGCGCTGTAGGGGAGGGTACTGGGCTGTCACAGTGGACACAGCCTGGGGCCAGACCCCGGGCCGAGTCCCAGCTTGGCCTGGAGTCCCCCTGGTAACCACTGCCACATCCCGTGTAGCTCTTACCCAGGGAGCCTCTGGAGAGAGCTGCAGGGATAAGCCCCCAGCCCCCCAACCCACTCACTGTCAGAAAATGCAAGGCCCGTGGGAGACTGGTCTTCACTCTCAATGCAGCCGCCACATAGATCTCGGCCAGCGTCGCCACAGACACGGCATCCCCTGCACACTCTGCCAGGTTCAGGGCACTCAGCGCCAGGTTGGTGGCAGTGAGGTGCCCGCCTGTGTGCTTCCCTGGAAGGCAAGCAGGCATGAGGCTGTGGGTGGAGCACAGGCAGCAGGGAGCACCTCGGAGCCCGCCCCACGCTCAGTCCTACCCATGGTGTGCAGCTGGTGCAGCTTATGGTAGACCAGGGCTGCGTCTCGGGCGCTGGCGCTAGCATCCACTCGCAGAGCACAGTCCTGCTGCAGGCCCCCTGCCCGGCCTGCCAGCCAGCGGCCCACCCAGAGACGCTGCAGCAGGTGACGGATGAGGTTCCAGAGGAGGCTACAAGCCAGGTCCAGGTGGGAGGTGGGCAGGGGCCGGCCCAGTGCCCGCAGGGCCAGCCACAGCTGCTGGGCAGCCTGGGCAAAGTCTCCCTGTGGATGAGGGTTTTCCAGGTGAGAAAAGTGAGGTCAGAGCAGCTGCCCCAAAGCTCAGAAGAGCCGTCCACAGCAGGCTCTGGAGGGGTGGTGGGGGTCTGCGGATGCGTGGCTAGGCACAGGGAGGACGGGACAGATTCATGGTGTGCACAGGGAGCAGGAACAAGGGTTGACACCCAGCACCTTCACAGCCTGGGGTCCCTGCCCTGCCCACTCTGCCGGGGCCAGCCCCTTACCCGGGCCAGGTCCAGGTCAGCCTGCTTGCGATGCCTCCAGAAGTACACGGCGGGGCCTGAGTGGGGCCGTGTGACTGGCTCACCGTAGACAAAGAGAAGCACCAAGGAGACGAGCACCAACAGCCCATTGAGCAGCCAGACCACTGGGGGCAGCAGCCACTGGGCCCAGCCAGGGCCATCTATGGACAGAGGGAAAGCTGGGGACACAGCTCCCAGGAAATCCAGAGCCCCAAGTTCACAAGCCTGGGGGCTCACCCCGAGTGTCCCTCCCAAAGATGCCCAGGCTGGCCGGTCCCACCTCTGCTCTCGGTGCCCAGCACGTTGCGCCCAGGGCTATGGTAGACGCTGGTGGTATCTGAGGGGCTGGGAAGCCCCCGGGCCCCCAGCAAGGAGGCCAAGGGGTTGCAGGACAGGCAGAGGAAGACGAGCGTGCACAGGGCCAGGCGGGAGCGGTCCAGCATGCCCCGGCTGTGCAGAGACGGCCGCTGCTCTGGCTTTGCCTGGTGGGGTTGGGCAGGGTGGTGAGGGCAGAATCGGAGGGACCCCAGAGAGCATGGGGCTGGGAAGGGGGGGGTCAGGATTCTGCCCACCTTACTGTGGGACCCCACGTGGCTCCAGGCCTCAGTTATTCTGTCTATGAAATGGGAGGTAGGATCTGTTAGGGTCTTCCCGGCCCTGTCATGAGGCTCAGAGGATATGGCTGGGAGTGGGGAAGGGGGCACCGTGGCAGGGCCCAACCTTGCTGTCCTCAAAGACTGGGCTGTCAGGCTCCGAGTCACTGCCACTGCCACCGCTGCCACTGCCCCTGCTGCCAAGGGACAAGGGGCTGCTCTGGAAAGGTGAGCCAGCATCCGAGGGGGGTGGGGTCAGTGTGTCCTCCACCTCAGTCTTCACGCCCTCCATGAGCACGTCTGTGTTCCCTCCACTGCCACAGGCCGACACCAGATCCTTCAGAGATTCTGTGGGCCGAAAGGAACAGAGCCAGGAGTAAAGGCTGGATATGTGACCCCAAATCAGAGCCTAGGCCCTTGGAGGCCTAGGGACTACTGTAGCTCCTAAAGCTAGCCCAGGACGCTTTGATGGGGCTGGGTTAGGGCCAAAGGGAGGCACCAGGTCTCTTTCAGGACCAGAGGTAACCAAGGGACTAGAGCTGAATGCAGGGCTACAGCCAAGGGTGAGGTGGGCAGGGCAGAGGGTGGGCCAGAACCAAGGGTGGGGTGGGGCTAGGGATGGGGTGGGGCCGGGAGGTGGAGCAAGGCTAGAGAAGAGGCCAGACTGGAGCTCAATAAAGCCAGGACTCACTGCTTTTGTGGACAGCAGTGCGCAGACTTAGGTTCTCCTGCTTGAGTTTCTGGTTGCTGTGTTGCAGAAAGCGAATGTAGTCGATGGCCTTGCGCAAGACAGCAGATTTATTCAGCTGCACGGTGTGGGAGGGAGGGGGAGCGCACAGGTGGCCTGTCAGGTCGGGGGTTGTGGGGTTGGAGAGCCCTAGCAAGGGGGTGCGGAGCTGCTTTGCAACATTACTGCCTCAGGACCTTTGCACTTGTTCCTTCTACCTGAACCGTTCCTCGCCTAGTAGCACCCACCTCCCAGGCCGGGCATAGGGTTAGAATGTAAGATGCAGACAGCAGGGTCTGGCTAGCTGCTGCTGTGCCTGCCGCCATCTCAGGGAGGCCTTCCCTGGCTACCACCAGGGGACCCTCACCATCCTCTTCCTGCTTTCTCTGCAACGAGCCAAACGTGGTGGTCTCGAGCACTTATTCATCCTGCCTACTGTCCATCTCCCCCACCAGAAGGTCGGCTCTTCTTTGAGGGACAATTTTTGTCTGTCTTGTTCATTGCTGCATCCCCAATGCCTAGCACAGCCCCACCTTTATTGAAGAGGCCTGCAAACCAGTTTAACTAAATAAACGAGGCTGGCCAGGCCTGGGGAGGCTGAATTCCAATTCCCTGCTTGTCCAGGCTCAGTCTCACTCCCTCTCTTCCTTCCAGTTGCCCCTGATCTGTTCCTTCCTAGGGACACCCCGGTCTGTGCCCCTGCAGGCCTCTCCACACCTTTGCCTCAGTGCCCACCACCAGATCCTTGAGCTCAATGATTTTGTCATTGATGGAGGAGCGGTAGCGCTTCTCAATGGCGTTGTGGGCTGTGCGCTTCTCTCCACGGCTCTGGGCAGAGGCCGGGGCCTTGCTGCCAGCTGCGAGCCGGTTGATAGGCAGCTTCTCCGCATCTACGACCAGTGGGACTGTTGCCAAGATGGTTCCGCCACTCACCAGGGTCTGCAGGGCCAGGCACATGTTACCAGGTGGGCATGTGTGTGTGTGTGTAGACCCCACTCCCTTATGCCCTGCCCACGTCACCCACCGGCAAAGGCC 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TGACCCAGGGCTGGGGTTGGGCTGGGTCACACAGTTCAGTGCTCGCTCTAAGAGATGTTCCCGGAATAGCTGAGTCACCTGGGCCAGGGGGTCCACTGTGGAGAGGAGGAGGTGAGTGGGGTGGGGAGCAGGGCCCCACCCTCCTCTCCAAGCTAAGGGCTTTTTCCTGGGTGGGCTGGGGCCACACCTAGGGCCACTGGGAAGTGCCGGCATGCCCCTGGGTGCAGCCCCTGCCAAGGACAGGGGAAAGCGGGTGGACATAACTATCACCAGCACCAGCCTTGGCCAGGAGACAACACTGAGGCCTGCCCTACACTGCTTCCAAAGGAAAACCGACTTGAGAAGATGCCATTGTTGGCTCCGCTTCCTTACTCCACAGCGGCACTGCCTGGGGTCACTTCTCCAATTAGCCATCTGCCCATCAATCCCTGCATGTGCTTCTGAAAGCCCCAATGGGAACGAGAGGCACCCAGGCCTTTCCCTTCCTGCAACCCCCACAGCAACAACCCATGGCAGGGAGAAGGACTGGGGTGGCCAGAGACAGCCAGAGATTCAGGCGACAAGGGACAGGACAGGAATGAGGATGAGGGACAGGAGAGGGGACAGGGAAGGGGTAAGAGAGCACCTGGGTTCCCGGCCAAGCTGTACAGGCTCTCCCATGGGGTACTGAGCACGGACCAGTCCCCATCCACGAAGAAACGGTGGCCCACGGGGTGGCAGAGCCACTGCATGGCAGGAGGCACTGAGCCACTCTGTGCCAGGCAGGCCTGGCGGGCACTGCTCAGGAAGAAGCGCTGTAGGGGAGGGTACTGGGCTGTCACAGTGGACACAGCCTGGGGCCAGACCCCGGGCCGAGTCCCAGCTTGGCCTGGAGTCCCCCTGGTAACCACTGCCACATCCCGTGTAGCTCTTACCCAGGGAGCCTCTGGAGAGAGCTGCAGGGATAAGCCCCCAGCCCCCCAACCCACTCACTGTCAGAAAATGCAAGGCCCGTGGGAGACTGGTCTTCACTCTCAATGCAGCCGCCACATAGATCTCGGCCAGCGTCGCCACAGACACGGCATCCCCTGCACACTCTGCCAGGTTCAGGGCACTCAGCGCCAGGTTGGTGGCAGTGAGGTGCCCGCCTGTGTGCTTCCCTGGAAGGCAAGCAGGCATGAGGCTGTGGGTGGAGCACAGGCAGCAGGGAGCACCTCGGAGCCCGCCCCACGCTCAGTCCTACCCATGGTGTGCAGCTGGTGCAGCTTATGGTAGACCAGGGCTGCGTCTCGGGCGCTGGCGCTAGCATCCACTCGCAGAGCACAGTCCTGCTGCAGGCCCCCTGCCCGGCCTGCCAGCCAGCGGCCCACCCAGAGACGCTGCAGCAGGTGACGGATGAGGTTCCAGAGGAGGCTACAAGCCAGGTCCAGGTGGGAGGTGGGCAGGGGCCGGCCCAGTGCCCGCAGGGCCAGCCACAGCTGCTGGGCAGCCTGGGCAAAGTCTCCCTGTGGATGAGGGTTTTCCAGGTGAGAAAAGTGAGGTCAGAGCAGCTGCCCCAAAGCTCAGAAGAGCCGTCCACAGCAGGCTCTGGAGGGGTGGTGGGGGTCTGCGGATGCGTGGCTAGGCACAGGGAGGACGGGACAGATTCATGGTGTGCACAGGGAGCAGGAACAAGGGTTGACACCCAGCACCTTCACAGCCTGGGGTCCCTGCCCTGCCCACTCTGCCGGGGCCAGCCCCTTACCCGGGCCAGGTCCAGGTCAGCCTGCTTGCGATGCCTCCAGAAGTACACGGCGGGGCCTGAGTGGGGCCGTGTGACTGGCTCACCGTAGACAAAGAGAAGCACCAAGGAGACGAGCACCAACAGCCCATTGAGCAGCCAGACCACTGGGGGCAGCAGCCACTGGGCCCAGCCAGGGCCATCTATGGACAGAGGGAAAGCTGGGGACACAGCTCCCAGGAAATCCAGAGCCCCAAGTTCACAAGCCTGGGGGCTCACCCCGAGTGTCCCTCCCAAAGATGCCCAGGCTGGCCGGTCCCACCTCTGCTCTCGGTGCCCAGCACGTTGCACCCAGGGCTATGGTAGACGCTGGTGGTATCTGAGGGGCTGGGAAGCCCCCGGGCCCCCAGCAAGGAGGCCAAGGGGTTGCAGGACAGGCAGAGGAAGACGAGCGTGCACAGGGCCAGGCGGGAGCGGTCCAGCATGCCCCGGCTGTGCAGAGACGGCCGCTGCTCTGGCTTTGCCTGGTGGGGTTGGGCAGGGTGGTGAGGGCAGAATCGGAGGGACCCCAGAGAGCATGGGGCTGGGAAGGGGGGGGTCAGGATTCTGCCCACCTTACTGTGGGACCCCACGTGGCTCCAGGCCTCAGTTATTCTGTCTATGAAATGGGAGGTAGGATCTGTTAGGGTCTTCCCGGCCCTGTCATGAGGCTCAGAGGATATGGCTGGGAGTGGGGAAGGGGGCACCGTGGCAGGGCCCAACCTTGCTGTCCTCAAAGACTGGGCTGTCAGGCTCCGAGTCACTGCCACTGCCACCGCTGCCACTGCCCCTGCTGCCAAGGGACAAGGGGCTGCTCTGGAAAGGTGAGCCAGCATCCGAGGGGGGTGGGGTCAGTGTGTCCTCCACCTCAGTCTTCACGCCCTCCATGAGCACGTCTGTGTTCCCTCCACTGCCACAGGCCGACACCAGATCCTTCAGAGATTCTGTGGGCCGAAAGGAACAGAGCCAGGAGTAAAGGCTGGATATGTGACCCCAAATCAGAGCCTAGGCCCTTGGAGGCCTAGGGACTACTGTAGCTCCTAAAGCTAGCCCAGGACGCTTTGATGGGGCTGGGTTAGGGCCAAAGGGAGGCACCAGGTCTCTTTCAGGACCAGAGGTAACCAAGGGACTAGAGCTGAATGCAGGGCTACAGCCAAGGGTGAGGTGGGCAGGGCAGAGGGTGGGCCAGAACCAAGGGTGGGGTGGGGCTAGGGATGGGGTGGGGCCGGGAGGTGGAGCAAGGCTAGAGAAGAGGCCAGACTGGAGCTCAATAAAGCCAGGACTCACTGCTTTTGTGGACAGCAGTGCGCAGACTTAGGTTCTCCTGCTTGAGTTTCTGGTTGCTGTGTTGCAGAAAGCGAATGTAGTCGATGGCCTTGCGCAAGACAGCAGATTTATTCAGCTGCACGGTGTGGGAGGGAGGGGGAGCGCACAGGTGGCCTGTCAGGTCGGGGGTTGTGGGGTTGGAGAGCCCTAGCAAGGGGGTGCGGAGCTGCTTTGCAACATTACTGCCTCAGGACCTTTGCACTTGTTCCTTCTACCTGAACCGTTCCTCGCCTAGTAGCACCCACCTCCCAGGCCGGGCATAGGGTTAGAATGTAAGATGCAGACAGCAGGGTCTGGCTAGCTGCTGCTGTGCCTGCCGCCATCTCAGGGAGGCCTTCCCTGGCTACCACCAGGGGACCCTCACCATCCTCTTCCTGCTTTCTCTGCAACGAGCCAAACGTGGTGGTCTCGAGCACTTATTCATCCTGCCTACTGTCCATCTCCCCCACCAGAAGGTCGGCTCTTCTTTGAGGGACAATTTTTGTCTGTCTTGTTCATTGCTGCATCCCCAATGCCTAGCACAGCCCCACCTTTATTGAAGAGGCCTGCAAACCAGTTTAACTAAATAAACGAGGCTGGCCAGGCCTGGGGAGGCTGAATTCCAATTCCCTGCTTGTCCAGGCTCAGTCTCACTCCCTCTCTTCCTTCCAGTTGCCCCTGATCTGTTCCTTCCTAGGGACACCCCGGTCTGTGCCCCTGCAGGCCTCTCCACACCTTTGCCTCAGTGCCCACCACCAGATCCTTGAGCTCAATGATTTTGTCATTGATGGAGGAGCGGTAGCGCTTCTCAATGGCGTTGTGGGCTGTGCGCTTCTCTCCACGGCTCTGGGCAGAGGCCGGGGCCTTGCTGCCAGCTGCGAGCCGGTTGATAGGCAGCTTCTCCGCATCTACGACCAGTGGGACTGTTGCCAAGATGGTTCCGCCACTCACCAGGGTCTGCAGGGCCAGGCACATGTTACCAGGTGGGCATGTGTGTGTGTGTGTAGACCCCACTCCCTTATGCCCTGCCCACGTCACCCACCGGCAAAGGCC 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Task1_train_23847 | A change on Chromosome 17 affects gene ATPAF2 (ATP synthase mitochondrial F1 complex assembly factor 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | GAGAGGGTTTCTTCTTCCACTGATAACCATCTGGGCAAATCAGGAAAAATAGCCTCAATCCAAGGGGAATGCCCATCTAAATGTCCATTACCAGATGGTGTCGGTGTCCAGAAACTTCACGGCTGCCCGGATCAGCTGATCCTTGTTTCTCTGGGTTGGGTTGTCCAATGATGTGTTGCACAATGTGGTCTGAATCAAAGGCAAAAACCACCCTGTCACTGCCTGCGGGGCTCAGGCAAAAGCCCTGCTTTCCTGAGGACACCACATCTGACACATAGCAGACAGCACCACAGCACAGCCCTCCACCAGAGGCGTCTGCATTACCGGAGCAGCAGCACAGCTACTGAGAGTGTGCCACAACCAGGCTCCATGCCAAATGCTTTGTGTTGACGCTCACAGGACTCGAGGGAAGCTTGCAGCAGCCCCAGGATTAGTGAACCTCCCCCATGGTCACATGCCTTTTATTACCAGGCTCTAGTGTATTTAATTTAATCCTCACAACAACCTTTTGGAGTAGGTACTATTATTATGTCCATCTGGGATGTGAAAACTGAGGCCCAGACAGGTTAAGTACATTGTCAAATACAGTTAATAAGACATGTATTAGTGATGGAGCTCAAATCTGACTGGAAACCTTTACCAGCTGCCTCCCTTACACCTTAGAAAGTAGGGAAATAGCCCATGCAAATCGGGATCAAGATTATTTTTTTCGGCCAAGTGTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCTGGCATGGTGGTGGACGTCTGTAATCCCAGCTGCTTGGGAGGCTGAGACGGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTATGCCATTGCACTGCAGCCTGGGCAACAGAGTTAGACTGTTTAAAAAAAAAAAAAAGATCTTTTTTTTTCCAGACTTACCTTGTCAATAATAGGCTGCTTAGGTTACCCTATTCGTTTGTAGCCCTAATCACCCTAATTTCACTAGGTTGTCAAGGACCAGGCCAACCACCTCAGCAGGCTGTGATGTTGGGAGGAGGCCCACCTGGGTTTGCAAAGGTTGAGCACAGCAGCGGCTGGGATGATAGCAGCTGACTCCTGTATTGACTGAGTGCCCAGTCAGTGCTGGGGACCATGCCAAGGGCTTTCTTGCATCATCTCATCTCATCCTGACCACAGCTCCGTGAGGTGGGTACTATTATCACTCATCTTTAATCGGTGGGGAATATGGGGCTGCGAAAGGGGTAGCAACCTGCCCAAGGTTACAGTTTAGAAGCTGCAGAGGCTGGACCTAAGAGTGTAGCTGGGCCCTTCCTTCCCCAGGCAGCCTTGGTGCCTAGGCGAGCCACTTTGGTGTGGACGAGGGGGCTGGTTCTATAGGGAGTCTTCCTCACCTCACCCATCTGCCTCCAGTGGATCTTATATTCAACTAATATTTACTGAGTACCAACTAAATTACCTGCTAGTGGCTGTCCAGACACTGATGAGTAAAACAGACATGGCTCCTGCCCTTCTGTTGCTTACCAGGCAGTGGAAGAGACAGACAATAAATGTGCAAACATAAAACAATTATAAATTGCCTAAGTGCTGACAAAACAAATGGCCAGCTGCTGTCATAGAAAATAAGAGAGCTGGGCAGTCAATGAAGGTGACATCTGTCCTGAAACCAAAGGAGAAACCAGCCATCCAGCACAGTGTTCCTAGGAGAGAGAGCTGCAAGTAGCCGGGCCAGACAAGGAAAGAGTTTAGCACGTTAGTGACTTGAGAGGAGGTGAATCCCTGGGGGCCAGACAGGCAAAGGACCAGCCCCCAGGGCCTTGTCGGAATTTGGTAAAGGGTCTACCCTACGAAGCCCTGGGTGGGTCTCAGGGTCCAGGTTCACACTGTGAACTTGTTACCAGGTGCATGGTGTAGTACTTGATGGTATCCTGCTGGGAATCCCACTCAGTAGCCACTGCAATGGCCAGGGCCTCGCTGGGGACGGTAAAGAGCTTGGCTTGGGGAGTTTTCAGCTTCCTGTGGTCCAGGTTTATCTCAAAGCCACCTTGAAAGATCAAATGAAAAACTCTCAGGGATTTGTTAAGTGGAATCAAGTGACCATTCCTATATTTAGCCACTTGAATTGGTGCAGACAAAGCCAACTCTGAGTCCCTTACAGAAATATATCTCACAAAAAGCAGGAAGGATAATCGCACCATGAAACCAGCTGAAGATGAAAAATGTTCCCAACCATTCACAAAAAAAAAAAAAAAAAGAGGCAGTCAAAATTTCAGACACTCACCTTCACCCTGTGTGATGCTGACATTCTGATAAAACCTCTTCCTTTCTGTAAGAAAGATTTTTCAAAGAGGCAGTTTAAAATAACGTTGAGACAACTCAGGAAGCGACAGGACCAGCTTGTATCATTACTGCTAATGTTGATTGATTGGCTTGATTTTCATATCCCCATTCAAGGTCTGCCCTACTCAACACGGTATAATCAACCGCTTCTGATTAAAGCTGGGGGAAGGGAACATCTGATCTCCAGGGAGAAGGGAGGAACAGAACATGCTGGTCATACCTCTGCCAGCCCCGCAGCCTGGGGACAAGTCTGATCAGGAGCATCTCGGCATGCTCTCCCACCCTCCCCACCACCAGTGCCACCTCATGCCAGCACAACGAGTTCAAACCTAAAGTCGGTGTCTGAGTGGGACAAAGCTAGAGACCCATTTCAGGCAAGACTCTGATGCCTCTAAGGAGTGAGTGGAAAGCCAGTGTGCGTGCGCAGGGTGTGCGTGTGTGATACATCGGCAGGATACAGAGCTCCCAAGGGCATTTCCCATCCCCTCTCTCCAATTAATTAACCTAATTAACCAGCTTGCTTGTGTATCCAACAGGAACTCCAAACATTTCCTTCAAGAATGGGAAAATCTATGTCCTTTGTTTTCTTTTGAAAATAACTTGAATAAAATCTTACATGAAACAGTCTCCTTCTTTTACCCTGGAGGGATTAACAACCAAGAGCACTTCTAAGGAATTATGCAGATTCCCTCAACTGATAACAAAGAAGTCACATTTTGGAAGCTATAAGCTATAACTCAGTCTCTCACATCTGTGACAAACACAAAACTTTCATTCATTCATTCGTTTGTTCACTCGTTCATGTGTTCACTGAGTTCTCAAAGTCTTTGGAGACCCTAACTGAAGTTATTTATTGGAAATAATGATGCAGCATGTGGAAGAAAAAAGAGTAAATCATTTGCTTTATTTATTTATTTTATTATTATTTTTTTTTTGAAATGGCGTCTCACTCTCTTGCCCAGGCTGGAGTGTAGTGGTGCAATCTCAGCTCACTGAAACCTCCACCTCCTGGGTTCAAGCGACTCTCCTGCCTCAGTCCCCTGAGTAGCTGGGATTACAGGCATGCGCCAACACACCAGGCTAATTTTTGAATTTTTAGTAGAGGCAGAGTTTTGCCATGCCAGCCAGGTTGGTCTCGAACTCCTGACCTCAAGTGATCCAACCCGTGAGCCACCATGCCCGGCCAAATAGTTTGCCTTTAACGCTAAAAAAAAAAAAAAAAAAAAAAAAAGGCTGGTCGCAGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGTGGGAAGACTGCTTGAGGCCAGGAGTTCAAGACCCAAGCTGGGCAACATGAGACCCCATCTCTACAAAAAATACAAAAATGAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGTCAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCACATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGGCAGAGCAAGACTCCATCTCAAA 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GAGAGGGTTTCTTCTTCCACTGATAACCATCTGGGCAAATCAGGAAAAATAGCCTCAATCCAAGGGGAATGCCCATCTAAATGTCCATTACCAGATGGTGTCGGTGTCCAGAAACTTCACGGCTGCCCGGATCAGCTGATCCTTGTTTCTCTGGGTTGGGTTGTCCAATGATGTGTTGCACAATGTGGTCTGAATCAAAGGCAAAAACCACCCTGTCACTGCCTGCGGGGCTCAGGCAAAAGCCCTGCTTTCCTGAGGACACCACATCTGACACATAGCAGACAGCACCACAGCACAGCCCTCCACCAGAGGCGTCTGCATTACCGGAGCAGCAGCACAGCTACTGAGAGTGTGCCACAACCAGGCTCCATGCCAAATGCTTTGTGTTGACGCTCACAGGACTCGAGGGAAGCTTGCAGCAGCCCCAGGATTAGTGAACCTCCCCCATGGTCACATGCCTTTTATTACCAGGCTCTAGTGTATTTAATTTAATCCTCACAACAACCTTTTGGAGTAGGTACTATTATTATGTCCATCTGGGATGTGAAAACTGAGGCCCAGACAGGTTAAGTACATTGTCAAATACAGTTAATAAGACATGTATTAGTGATGGAGCTCAAATCTGACTGGAAACCTTTACCAGCTGCCTCCCTTACACCTTAGAAAGTAGGGAAATAGCCCATGCAAATCGGGATCAAGATTATTTTTTTCGGCCAAGTGTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCTGGCATGGTGGTGGACGTCTGTAATCCCAGCTGCTTGGGAGGCTGAGACGGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTATGCCATTGCACTGCAGCCTGGGCAACAGAGTTAGACTGTTTAAAAAAAAAAAAAAGATCTTTTTTTTTCCAGACTTACCTTGTCAATAATAGGCTGCTTAGGTTACCCTATTCGTTTGTAGCCCTAATCACCCTAATTTCACTAGGTTGTCAAGGACCAGGCCAACCACCTCAGCAGGCTGTGATGTTGGGAGGAGGCCCACCTGGGTTTGCAAAGGTTGAGCACAGCAGCGGCTGGGATGATAGCAGCTGACTCCTGTATTGACTGAGTGCCCAGTCAGTGCTGGGGACCATGCCAAGGGCTTTCTTGCATCATCTCATCTCATCCTGACCACAGCTCCGTGAGGTGGGTACTATTATCACTCATCTTTAATCGGTGGGGAATATGGGGCTGCGAAAGGGGTAGCAACCTGCCCAAGGTTACAGTTTAGAAGCTGCAGAGGCTGGACCTAAGAGTGTAGCTGGGCCCTTCCTTCCCCAGGCAGCCTTGGTGCCTAGGCGAGCCACTTTGGTGTGGACGAGGGGGCTGGTTCTATAGGGAGTCTTCCTCACCTCACCCATCTGCCTCCAGTGGATCTTATATTCAACTAATATTTACTGAGTACCAACTAAATTACCTGCTAGTGGCTGTCCAGACACTGATGAGTAAAACAGACATGGCTCCTGCCCTTCTGTTGCTTACCAGGCAGTGGAAGAGACAGACAATAAATGTGCAAACATAAAACAATTATAAATTGCCTAAGTGCTGACAAAACAAATGGCCAGCTGCTGTCATAGAAAATAAGAGAGCTGGGCAGTCAATGAAGGTGACATCTGTCCTGAAACCAAAGGAGAAACCAGCCATCCAGCACAGTGTTCCTAGGAGAGAGAGCTGCAAGTAGCCGGGCCAGACAAGGAAAGAGTTTAGCACGTTAGTGACTTGAGAGGAGGTGAATCCCTGGGGGCCAGACAGGCAAAGGACCAGCCCCCAGGGCCTTGTCGGAATTTGGTAAAGGGTCTACCCTACGAAGCCCTGGGTGGGTCTCAGGGTCCAGGTTCACACTGTGAACTTGTTACCAGGTGCATGGTGTAGTACTTGATGGTATCCTGCTGGGAATCCCTCTCAGTAGCCACTGCAATGGCCAGGGCCTCGCTGGGGACGGTAAAGAGCTTGGCTTGGGGAGTTTTCAGCTTCCTGTGGTCCAGGTTTATCTCAAAGCCACCTTGAAAGATCAAATGAAAAACTCTCAGGGATTTGTTAAGTGGAATCAAGTGACCATTCCTATATTTAGCCACTTGAATTGGTGCAGACAAAGCCAACTCTGAGTCCCTTACAGAAATATATCTCACAAAAAGCAGGAAGGATAATCGCACCATGAAACCAGCTGAAGATGAAAAATGTTCCCAACCATTCACAAAAAAAAAAAAAAAAAGAGGCAGTCAAAATTTCAGACACTCACCTTCACCCTGTGTGATGCTGACATTCTGATAAAACCTCTTCCTTTCTGTAAGAAAGATTTTTCAAAGAGGCAGTTTAAAATAACGTTGAGACAACTCAGGAAGCGACAGGACCAGCTTGTATCATTACTGCTAATGTTGATTGATTGGCTTGATTTTCATATCCCCATTCAAGGTCTGCCCTACTCAACACGGTATAATCAACCGCTTCTGATTAAAGCTGGGGGAAGGGAACATCTGATCTCCAGGGAGAAGGGAGGAACAGAACATGCTGGTCATACCTCTGCCAGCCCCGCAGCCTGGGGACAAGTCTGATCAGGAGCATCTCGGCATGCTCTCCCACCCTCCCCACCACCAGTGCCACCTCATGCCAGCACAACGAGTTCAAACCTAAAGTCGGTGTCTGAGTGGGACAAAGCTAGAGACCCATTTCAGGCAAGACTCTGATGCCTCTAAGGAGTGAGTGGAAAGCCAGTGTGCGTGCGCAGGGTGTGCGTGTGTGATACATCGGCAGGATACAGAGCTCCCAAGGGCATTTCCCATCCCCTCTCTCCAATTAATTAACCTAATTAACCAGCTTGCTTGTGTATCCAACAGGAACTCCAAACATTTCCTTCAAGAATGGGAAAATCTATGTCCTTTGTTTTCTTTTGAAAATAACTTGAATAAAATCTTACATGAAACAGTCTCCTTCTTTTACCCTGGAGGGATTAACAACCAAGAGCACTTCTAAGGAATTATGCAGATTCCCTCAACTGATAACAAAGAAGTCACATTTTGGAAGCTATAAGCTATAACTCAGTCTCTCACATCTGTGACAAACACAAAACTTTCATTCATTCATTCGTTTGTTCACTCGTTCATGTGTTCACTGAGTTCTCAAAGTCTTTGGAGACCCTAACTGAAGTTATTTATTGGAAATAATGATGCAGCATGTGGAAGAAAAAAGAGTAAATCATTTGCTTTATTTATTTATTTTATTATTATTTTTTTTTTGAAATGGCGTCTCACTCTCTTGCCCAGGCTGGAGTGTAGTGGTGCAATCTCAGCTCACTGAAACCTCCACCTCCTGGGTTCAAGCGACTCTCCTGCCTCAGTCCCCTGAGTAGCTGGGATTACAGGCATGCGCCAACACACCAGGCTAATTTTTGAATTTTTAGTAGAGGCAGAGTTTTGCCATGCCAGCCAGGTTGGTCTCGAACTCCTGACCTCAAGTGATCCAACCCGTGAGCCACCATGCCCGGCCAAATAGTTTGCCTTTAACGCTAAAAAAAAAAAAAAAAAAAAAAAAAGGCTGGTCGCAGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGTGGGAAGACTGCTTGAGGCCAGGAGTTCAAGACCCAAGCTGGGCAACATGAGACCCCATCTCTACAAAAAATACAAAAATGAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGTCAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCACATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGGCAGAGCAAGACTCCATCTCAAA 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Task1_train_23848 | This alteration in MYO15A (myosin XVA) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 3 | CCTGTCCCTGTTTCACAGCTGAGCACGTTGAGGCTCTGAAGCCACTGATCTGAGGGCGTGGAGCTGGCAAGTGGCAGAACCAGGGCCAGAACCTTGCTGCTTTGGGGTCTCCTATGCTAAACCTTAAACAACCAAAGAATTAGCTCTGGGACCAAAAGAGTGAACCAGAGTTCAGTGAGTTGAGGTCCATCTTGAGGAGGAAGAGGAGGAGGAGAGCTGGTTCTGAGGCTTCAGGTCTCAGAGCTGCCACTCCCCACCTCCGCTGGCCTGCCCAGTTTTTCCCACCCCCTACCTCTTTTAGTGCAGGTTCTCAAAAGTGAGTTAGACTGGCCACCAACCAGACTTTGGACATGCAGCCTTAGGTCAGGCCATATGAAGCAATCAGCTATGCCCAGAGAAGGCAGTAACCACATGGCCACAGCCTACTCAGCCAGGGCAGAAAGTAAGAGGAGAGGACAGGGCTAGGCAGGGACCCCAGAAAGGAGCCAGCAGGAGGCATCTCCAGTTACCCAGCAGCTCCATCAGGTCTTGCTTCCTTTTGGTGAAGGAGATGGGGCATAGCTTATCACTCCCATTCTTCAGAGGAAACTGAGGCCCAGAGAGGACAAGGACTTTCCTGGACCCACACAGCCAGTCAGTGACAGAGCCTAGGGTCTGAGCCAGGCCTGACCCAACCTCCATTTCTGCCTCTCTACCCCTGCCCCCGCCCCAACACACACACACACACAAGTGGAGTTCCACTGAAACGCCCCTCCTTGCCCTGCCTTCTGAGCCGGCAGCCTGGCTCCCCACCCCATGTATTATTCAGCTCCTGAGAGCCAGCCAGCTCCTGTTACACTGACCGCAGCCCAGCACCTGCTCTGCCCATTCCCCTCCTCCCTTGCCTAGGACCTAGAGGGTTCAAAGTTCTCCTCCAAGATGACTTGGTGGGCTTTGGCCATCCCACCCTAGGCCCCACTTCTGGCCCAGTGCAGGTGTGCTGGTGATTTAGGGCAGGTGGCATTCCATCTCTGTGGCTCAATGTCTTCCTCTGTGAAGCCGAAGTGACCCAAGGGCTCCCTTCATGGGGTTGAGCCAGCTGTGGCCCAGGGAGGGCCTAACCAGGATGAGCACTGATGTTGCCATGACGACTCCGAGGCCAGAATGTCTCCCCCAGCACAGGCCTCATAGGCAGGCTTCCCCATCCTGGTAAACAACACCCACACACTTTCTACTACTGCTCTAGGGTGAAACCCAAGGCGCTCTAGAGGAGATGAATTATGGATCCGCCCTCCCGGAATCCTGGCTCGGCCCTCCCCACGCCACCCAGGGCCAGTCGGGTCTGCTCACAGCCCGAGGAGGCCGCGTGTCCAGCCGCGGGCAAGAGACAGAGCAGGTCCCTGTGTCTCCAAGTCCCTGAGCCCGTGACACCGGCCCCAGGCCCTGTAGAGAGCAGGCAGCCACCATGGCGAAGGAGGAAGATGAGGAGAAGAAAGCCAAGAAAGGGAAGAAGGGGAAGAAGGCACCGGAGCCGGAGAAGCCCAAACGGAGCCTGAAGGGGACGTCGCGGCTGTTCATGGGCTTCCGCGACCGTACACCCAAGATCTCCAAGAAGGGCCAGTTCCGCAGCGCCTCGGCCTTCTTCTGGGGCCTCCACACCGGCCCCCAGAAGACCAAGCGCAAGAGGAAGGCCCGCACCGTGCTCAAGTCCACGTCAAAGCTCATGACGCAGATGCGCATGGGCAAGAAGAAGCGGGCGATGAAGGGCAAGAAGCCGTCCTTCATGGTGATCCGCTTCCCAGGCCGCCGTGGCTACGGCCGCCTGCGGCCGCGCGCCCGGTCACTCAGCAAAGCGTCCACGGCCATCAACTGGCTCACAAAAAAGTTCCTCCTCAAGAAGGCCGAGGAGTCGGGCAGCGAACAGGCCACAGTGGACGCCTGGCTGCAGCGCTCGAGCTCCCGCATGGGCTCCCGCAAACTCCCCTTCCCGTCGGGTGCCGAGATCCTGCGGCCTGGGGGCCGGCTCCGGAGGTTCCCCCGCAGCCGCAGCATCTACGCGTCAGGCGAGCCCCTGGGCTTCCTGCCCTTCGAGGACGAGGCCCCATTCCATCACTCGGGCTCCCGCAAGTCGCTGTACGGGCTTGAGGGCTTCCAGGACCTGGGCGAGTATTATGACTATCACCGCGACGGCGACGACTACTACGACCGGCAGTCACTCCACCGCTACGAGGAGCAGGAACCCTACCTGGCGGGCCTCGGCCCCTACAGCCCGGCCTGGCCACCCTACGGCGACCACTACTACGGGTACCCGCCCGAGGATCCCTACGACTACTACCACCCCGACTATTACGGTGGCCCCTTTGATCCGGGGTACACCTACGGCTACGGCTACGACGATTACGAACCCCCATATGCGCCCCCGTCGGGGTACTCGTCTCCTTACAGCTACCACGATGGGTACGAGGGCGAGGCGCACCCTTATGGCTACTACCTGGATCCCTATGCGCCGTACGACGCGCCATACCCACCCTATGACCTCCCATACCACACTCCCTACGATGTACCCTACTTTGATCCCTACGGAGTCCACTACACCGTCCCCTATGCCGAAGGCGTCTATGGCGGTGGGGACGAGGCCATCTACCCCCCCGAGGTGCCCTATTTTTACCCGGAGGAGTCGGCTTCGGCCTTTGTGTACCCCTGGGTACCACCGCCCATCCCGTCGCCCCACAACCCGTATGCCCACGCCATGGATGACATCGCCGAGCTGGAGGAACCAGAGGACGCGGGCGTAGAGCGTCAGGGGACCTCCTTCCGCCTGCCCAGCGCCGCCTTCTTCGAGCAGCAAGGCATGGATAAGCCCGCCAGGTCCAAGCTGTCCCTCATCCGCAAGTTCCGCCTCTTCCCGCGACCCCAGGTGAAGCTGTTTGGGAAGGAGAAGCTGGAGGTGCCCCTGCCACCCTCTCTGGACATTCCTCTCCCCTTGGGGGATGCGGACGAAGAAGAGGACGAGGAGGAGCTGCCCCCGGTTTCCGCTGTGCCCTACGGCCACCCTTTCTGGGGCTTCCTCACGCCGCGCCAGCGCAACCTCCAGCGCGCGCTGTCGGCCTTCGGCGCCCACCGGGGCCTGGGCTTCGGCCCTGAGTTTGGCCGCCCCGTGCCTCGCCCTGCCACCTCGCTTGCGCGGTTCCTCAAGAAGACGCTGTCGGAGAAGAAGCCCATCGCGCGGCTCAGGGGCAGCCAGAAGGCCCGGGCGGGCGGCCCTGCTGTCAGGGAGGCGGCCTACAAACGCTTCGGCTACAAGCTGGCTGGCATGGACCCCGAGAAGCCCGGCACGCCCATCGTGCTGAGGAGGGCCCAGCCACGCGCTCGCAGCAGCAACGACGCGCGCCGCCCGCCCGCGCCACAGCCCGCGCCCAGGACCCTCTCCCACTGGAGCGCGCTCCTGTCTCCGCCCGTGCCCCCGCGGCCCCCAAGCTCCGGGCCCCCGCCCGCGCCGCCGCTCTCCCCGGCGCTCTCGGGCCTGCCCCGGCCGGCCTCGCCCTACGGCTCCCTCCGCCGCCACCCGCCGCCCTGGGCCGCCCCAGCGCACGTGCCACCGGCGCCGCAGGCCAGCTGGTGGGCCTTCGTGGAGCCCCCTGCCGTGAGCCCGGAGGTGCCCCCCGACCTACTAGCCTTCCCAGGGCCCCGACCCTCGTTCAGGGGCTCCCGCCGGAGAGGGGCGGCTTTCGGCTTCCCCGGGGCCTCTCCACGGGCGTCGCGGAGGCGAGCTTGGTCACCGCTGGCCTCGCCCCAGCCCTCGCTGAGGAGCTCGCCGGGCCTCGGCTACTGCTCACCCTTGGCGCCCCCGTCGCCTCAGCTGTCCTTGCGCACGGGCCCCTTCCAGCCGCCCTTCCTGCCCCCGGCCCGCCGGCCCCGCTCGCTGCAGGAGTCCCCAGCCCCACGCCGAGCCGCTGGGCGCCTGGGCCCACCCGGCTCGCCGCTGCCGGGCTCACCCAGGCCGCCCTCGCCGCCCCTGGGGCTCTGCCACAGCCCGCGGCGCAGCTCCCTGAATCTGCCCTCGCGCCTCCCGCACACGTGGCGGCGCCTCAGCGAGCCACCCACTCGGGCTGTGAAG 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CCTGTCCCTGTTTCACAGCTGAGCACGTTGAGGCTCTGAAGCCACTGATCTGAGGGCGTGGAGCTGGCAAGTGGCAGAACCAGGGCCAGAACCTTGCTGCTTTGGGGTCTCCTATGCTAAACCTTAAACAACCAAAGAATTAGCTCTGGGACCAAAAGAGTGAACCAGAGTTCAGTGAGTTGAGGTCCATCTTGAGGAGGAAGAGGAGGAGGAGAGCTGGTTCTGAGGCTTCAGGTCTCAGAGCTGCCACTCCCCACCTCCGCTGGCCTGCCCAGTTTTTCCCACCCCCTACCTCTTTTAGTGCAGGTTCTCAAAAGTGAGTTAGACTGGCCACCAACCAGACTTTGGACATGCAGCCTTAGGTCAGGCCATATGAAGCAATCAGCTATGCCCAGAGAAGGCAGTAACCACATGGCCACAGCCTACTCAGCCAGGGCAGAAAGTAAGAGGAGAGGACAGGGCTAGGCAGGGACCCCAGAAAGGAGCCAGCAGGAGGCATCTCCAGTTACCCAGCAGCTCCATCAGGTCTTGCTTCCTTTTGGTGAAGGAGATGGGGCATAGCTTATCACTCCCATTCTTCAGAGGAAACTGAGGCCCAGAGAGGACAAGGACTTTCCTGGACCCACACAGCCAGTCAGTGACAGAGCCTAGGGTCTGAGCCAGGCCTGACCCAACCTCCATTTCTGCCTCTCTACCCCTGCCCCCGCCCCAACACACACACACACACAAGTGGAGTTCCACTGAAACGCCCCTCCTTGCCCTGCCTTCTGAGCCGGCAGCCTGGCTCCCCACCCCATGTATTATTCAGCTCCTGAGAGCCAGCCAGCTCCTGTTACACTGACCGCAGCCCAGCACCTGCTCTGCCCATTCCCCTCCTCCCTTGCCTAGGACCTAGAGGGTTCAAAGTTCTCCTCCAAGATGACTTGGTGGGCTTTGGCCATCCCACCCTAGGCCCCACTTCTGGCCCAGTGCAGGTGTGCTGGTGATTTAGGGCAGGTGGCATTCCATCTCTGTGGCTCAATGTCTTCCTCTGTGAAGCCGAAGTGACCCAAGGGCTCCCTTCATGGGGTTGAGCCAGCTGTGGCCCAGGGAGGGCCTAACCAGGATGAGCACTGATGTTGCCATGACGACTCCGAGGCCAGAATGTCTCCCCCAGCACAGGCCTCATAGGCAGGCTTCCCCATCCTGGTAAACAACACCCACACACTTTCTACTACTGCTCTAGGGTGAAACCCAAGGCGCTCTAGAGGAGATGAATTATGGATCCGCCCTCCCGGAATCCTGGCTCGGCCCTCCCCACGCCACCCAGGGCCAGTCGGGTCTGCTCACAGCCCGAGGAGGCCGCGTGTCCAGCCGCGGGCAAGAGACAGAGCAGGTCCCTGTGTCTCCAAGTCCCTGAGCCCGTGACACCGGCCCCAGGCCCTGTAGAGAGCAGGCAGCCACCATGGCGAAGGAGGAAGATGAGGAGAAGAAAGCCAAGAAAGGGAAGAAGGGGAAGAAGGCACCGGAGCCGGAGAAGCCCAAACGGAGCCTGAAGGGGACGTCGCGGCTGTTCATGGGCTTCCGCGACCGTACACCCAAGATCTCCAAGAAGGGCCAGTTCCGCAGCGCCTCGGCCTTCTTCTGGGGCCTCCACACCGGCCCCCAGAAGACCAAGCGCAAGAGGAAGGCCCGCACCGTGCTCAAGTCCACGTCAAAGCTCATGACGCAGATGCGCATGGGCAAGAAGAAGCGGGCGATGAAGGGCAAGAAGCCGTCCTTCATGGTGATCCGCTTCCCAGGCCGCCGTGGCTACGGCCGCCTGCGGCCGCGCGCCCGGTCACTCAGCAAAGCGTCCACGGCCATCAACTGGCTCACAAAAAAGTTCCTCCTCAAGAAGGCCGAGGAGTCGGGCAGCGAACAGGCCACAGTGGACGCCTGGCTGCAGCGCTCGAGCTCCCGCATGGGCTCCCGCAAACTCCCCTTCCCGTCGGGTGCCGAGATCCTGCGGCCTGGGGGCCGGCTCCGGAGGTTCCCCCGCAGCCGCAGCATCTACGCGTCAGGCGAGCACCTGGGCTTCCTGCCCTTCGAGGACGAGGCCCCATTCCATCACTCGGGCTCCCGCAAGTCGCTGTACGGGCTTGAGGGCTTCCAGGACCTGGGCGAGTATTATGACTATCACCGCGACGGCGACGACTACTACGACCGGCAGTCACTCCACCGCTACGAGGAGCAGGAACCCTACCTGGCGGGCCTCGGCCCCTACAGCCCGGCCTGGCCACCCTACGGCGACCACTACTACGGGTACCCGCCCGAGGATCCCTACGACTACTACCACCCCGACTATTACGGTGGCCCCTTTGATCCGGGGTACACCTACGGCTACGGCTACGACGATTACGAACCCCCATATGCGCCCCCGTCGGGGTACTCGTCTCCTTACAGCTACCACGATGGGTACGAGGGCGAGGCGCACCCTTATGGCTACTACCTGGATCCCTATGCGCCGTACGACGCGCCATACCCACCCTATGACCTCCCATACCACACTCCCTACGATGTACCCTACTTTGATCCCTACGGAGTCCACTACACCGTCCCCTATGCCGAAGGCGTCTATGGCGGTGGGGACGAGGCCATCTACCCCCCCGAGGTGCCCTATTTTTACCCGGAGGAGTCGGCTTCGGCCTTTGTGTACCCCTGGGTACCACCGCCCATCCCGTCGCCCCACAACCCGTATGCCCACGCCATGGATGACATCGCCGAGCTGGAGGAACCAGAGGACGCGGGCGTAGAGCGTCAGGGGACCTCCTTCCGCCTGCCCAGCGCCGCCTTCTTCGAGCAGCAAGGCATGGATAAGCCCGCCAGGTCCAAGCTGTCCCTCATCCGCAAGTTCCGCCTCTTCCCGCGACCCCAGGTGAAGCTGTTTGGGAAGGAGAAGCTGGAGGTGCCCCTGCCACCCTCTCTGGACATTCCTCTCCCCTTGGGGGATGCGGACGAAGAAGAGGACGAGGAGGAGCTGCCCCCGGTTTCCGCTGTGCCCTACGGCCACCCTTTCTGGGGCTTCCTCACGCCGCGCCAGCGCAACCTCCAGCGCGCGCTGTCGGCCTTCGGCGCCCACCGGGGCCTGGGCTTCGGCCCTGAGTTTGGCCGCCCCGTGCCTCGCCCTGCCACCTCGCTTGCGCGGTTCCTCAAGAAGACGCTGTCGGAGAAGAAGCCCATCGCGCGGCTCAGGGGCAGCCAGAAGGCCCGGGCGGGCGGCCCTGCTGTCAGGGAGGCGGCCTACAAACGCTTCGGCTACAAGCTGGCTGGCATGGACCCCGAGAAGCCCGGCACGCCCATCGTGCTGAGGAGGGCCCAGCCACGCGCTCGCAGCAGCAACGACGCGCGCCGCCCGCCCGCGCCACAGCCCGCGCCCAGGACCCTCTCCCACTGGAGCGCGCTCCTGTCTCCGCCCGTGCCCCCGCGGCCCCCAAGCTCCGGGCCCCCGCCCGCGCCGCCGCTCTCCCCGGCGCTCTCGGGCCTGCCCCGGCCGGCCTCGCCCTACGGCTCCCTCCGCCGCCACCCGCCGCCCTGGGCCGCCCCAGCGCACGTGCCACCGGCGCCGCAGGCCAGCTGGTGGGCCTTCGTGGAGCCCCCTGCCGTGAGCCCGGAGGTGCCCCCCGACCTACTAGCCTTCCCAGGGCCCCGACCCTCGTTCAGGGGCTCCCGCCGGAGAGGGGCGGCTTTCGGCTTCCCCGGGGCCTCTCCACGGGCGTCGCGGAGGCGAGCTTGGTCACCGCTGGCCTCGCCCCAGCCCTCGCTGAGGAGCTCGCCGGGCCTCGGCTACTGCTCACCCTTGGCGCCCCCGTCGCCTCAGCTGTCCTTGCGCACGGGCCCCTTCCAGCCGCCCTTCCTGCCCCCGGCCCGCCGGCCCCGCTCGCTGCAGGAGTCCCCAGCCCCACGCCGAGCCGCTGGGCGCCTGGGCCCACCCGGCTCGCCGCTGCCGGGCTCACCCAGGCCGCCCTCGCCGCCCCTGGGGCTCTGCCACAGCCCGCGGCGCAGCTCCCTGAATCTGCCCTCGCGCCTCCCGCACACGTGGCGGCGCCTCAGCGAGCCACCCACTCGGGCTGTGAAG 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Task1_train_23849 | An alteration has been detected in MYO15A (myosin XVA) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 3 | AATTAGCTCTGGGACCAAAAGAGTGAACCAGAGTTCAGTGAGTTGAGGTCCATCTTGAGGAGGAAGAGGAGGAGGAGAGCTGGTTCTGAGGCTTCAGGTCTCAGAGCTGCCACTCCCCACCTCCGCTGGCCTGCCCAGTTTTTCCCACCCCCTACCTCTTTTAGTGCAGGTTCTCAAAAGTGAGTTAGACTGGCCACCAACCAGACTTTGGACATGCAGCCTTAGGTCAGGCCATATGAAGCAATCAGCTATGCCCAGAGAAGGCAGTAACCACATGGCCACAGCCTACTCAGCCAGGGCAGAAAGTAAGAGGAGAGGACAGGGCTAGGCAGGGACCCCAGAAAGGAGCCAGCAGGAGGCATCTCCAGTTACCCAGCAGCTCCATCAGGTCTTGCTTCCTTTTGGTGAAGGAGATGGGGCATAGCTTATCACTCCCATTCTTCAGAGGAAACTGAGGCCCAGAGAGGACAAGGACTTTCCTGGACCCACACAGCCAGTCAGTGACAGAGCCTAGGGTCTGAGCCAGGCCTGACCCAACCTCCATTTCTGCCTCTCTACCCCTGCCCCCGCCCCAACACACACACACACACAAGTGGAGTTCCACTGAAACGCCCCTCCTTGCCCTGCCTTCTGAGCCGGCAGCCTGGCTCCCCACCCCATGTATTATTCAGCTCCTGAGAGCCAGCCAGCTCCTGTTACACTGACCGCAGCCCAGCACCTGCTCTGCCCATTCCCCTCCTCCCTTGCCTAGGACCTAGAGGGTTCAAAGTTCTCCTCCAAGATGACTTGGTGGGCTTTGGCCATCCCACCCTAGGCCCCACTTCTGGCCCAGTGCAGGTGTGCTGGTGATTTAGGGCAGGTGGCATTCCATCTCTGTGGCTCAATGTCTTCCTCTGTGAAGCCGAAGTGACCCAAGGGCTCCCTTCATGGGGTTGAGCCAGCTGTGGCCCAGGGAGGGCCTAACCAGGATGAGCACTGATGTTGCCATGACGACTCCGAGGCCAGAATGTCTCCCCCAGCACAGGCCTCATAGGCAGGCTTCCCCATCCTGGTAAACAACACCCACACACTTTCTACTACTGCTCTAGGGTGAAACCCAAGGCGCTCTAGAGGAGATGAATTATGGATCCGCCCTCCCGGAATCCTGGCTCGGCCCTCCCCACGCCACCCAGGGCCAGTCGGGTCTGCTCACAGCCCGAGGAGGCCGCGTGTCCAGCCGCGGGCAAGAGACAGAGCAGGTCCCTGTGTCTCCAAGTCCCTGAGCCCGTGACACCGGCCCCAGGCCCTGTAGAGAGCAGGCAGCCACCATGGCGAAGGAGGAAGATGAGGAGAAGAAAGCCAAGAAAGGGAAGAAGGGGAAGAAGGCACCGGAGCCGGAGAAGCCCAAACGGAGCCTGAAGGGGACGTCGCGGCTGTTCATGGGCTTCCGCGACCGTACACCCAAGATCTCCAAGAAGGGCCAGTTCCGCAGCGCCTCGGCCTTCTTCTGGGGCCTCCACACCGGCCCCCAGAAGACCAAGCGCAAGAGGAAGGCCCGCACCGTGCTCAAGTCCACGTCAAAGCTCATGACGCAGATGCGCATGGGCAAGAAGAAGCGGGCGATGAAGGGCAAGAAGCCGTCCTTCATGGTGATCCGCTTCCCAGGCCGCCGTGGCTACGGCCGCCTGCGGCCGCGCGCCCGGTCACTCAGCAAAGCGTCCACGGCCATCAACTGGCTCACAAAAAAGTTCCTCCTCAAGAAGGCCGAGGAGTCGGGCAGCGAACAGGCCACAGTGGACGCCTGGCTGCAGCGCTCGAGCTCCCGCATGGGCTCCCGCAAACTCCCCTTCCCGTCGGGTGCCGAGATCCTGCGGCCTGGGGGCCGGCTCCGGAGGTTCCCCCGCAGCCGCAGCATCTACGCGTCAGGCGAGCCCCTGGGCTTCCTGCCCTTCGAGGACGAGGCCCCATTCCATCACTCGGGCTCCCGCAAGTCGCTGTACGGGCTTGAGGGCTTCCAGGACCTGGGCGAGTATTATGACTATCACCGCGACGGCGACGACTACTACGACCGGCAGTCACTCCACCGCTACGAGGAGCAGGAACCCTACCTGGCGGGCCTCGGCCCCTACAGCCCGGCCTGGCCACCCTACGGCGACCACTACTACGGGTACCCGCCCGAGGATCCCTACGACTACTACCACCCCGACTATTACGGTGGCCCCTTTGATCCGGGGTACACCTACGGCTACGGCTACGACGATTACGAACCCCCATATGCGCCCCCGTCGGGGTACTCGTCTCCTTACAGCTACCACGATGGGTACGAGGGCGAGGCGCACCCTTATGGCTACTACCTGGATCCCTATGCGCCGTACGACGCGCCATACCCACCCTATGACCTCCCATACCACACTCCCTACGATGTACCCTACTTTGATCCCTACGGAGTCCACTACACCGTCCCCTATGCCGAAGGCGTCTATGGCGGTGGGGACGAGGCCATCTACCCCCCCGAGGTGCCCTATTTTTACCCGGAGGAGTCGGCTTCGGCCTTTGTGTACCCCTGGGTACCACCGCCCATCCCGTCGCCCCACAACCCGTATGCCCACGCCATGGATGACATCGCCGAGCTGGAGGAACCAGAGGACGCGGGCGTAGAGCGTCAGGGGACCTCCTTCCGCCTGCCCAGCGCCGCCTTCTTCGAGCAGCAAGGCATGGATAAGCCCGCCAGGTCCAAGCTGTCCCTCATCCGCAAGTTCCGCCTCTTCCCGCGACCCCAGGTGAAGCTGTTTGGGAAGGAGAAGCTGGAGGTGCCCCTGCCACCCTCTCTGGACATTCCTCTCCCCTTGGGGGATGCGGACGAAGAAGAGGACGAGGAGGAGCTGCCCCCGGTTTCCGCTGTGCCCTACGGCCACCCTTTCTGGGGCTTCCTCACGCCGCGCCAGCGCAACCTCCAGCGCGCGCTGTCGGCCTTCGGCGCCCACCGGGGCCTGGGCTTCGGCCCTGAGTTTGGCCGCCCCGTGCCTCGCCCTGCCACCTCGCTTGCGCGGTTCCTCAAGAAGACGCTGTCGGAGAAGAAGCCCATCGCGCGGCTCAGGGGCAGCCAGAAGGCCCGGGCGGGCGGCCCTGCTGTCAGGGAGGCGGCCTACAAACGCTTCGGCTACAAGCTGGCTGGCATGGACCCCGAGAAGCCCGGCACGCCCATCGTGCTGAGGAGGGCCCAGCCACGCGCTCGCAGCAGCAACGACGCGCGCCGCCCGCCCGCGCCACAGCCCGCGCCCAGGACCCTCTCCCACTGGAGCGCGCTCCTGTCTCCGCCCGTGCCCCCGCGGCCCCCAAGCTCCGGGCCCCCGCCCGCGCCGCCGCTCTCCCCGGCGCTCTCGGGCCTGCCCCGGCCGGCCTCGCCCTACGGCTCCCTCCGCCGCCACCCGCCGCCCTGGGCCGCCCCAGCGCACGTGCCACCGGCGCCGCAGGCCAGCTGGTGGGCCTTCGTGGAGCCCCCTGCCGTGAGCCCGGAGGTGCCCCCCGACCTACTAGCCTTCCCAGGGCCCCGACCCTCGTTCAGGGGCTCCCGCCGGAGAGGGGCGGCTTTCGGCTTCCCCGGGGCCTCTCCACGGGCGTCGCGGAGGCGAGCTTGGTCACCGCTGGCCTCGCCCCAGCCCTCGCTGAGGAGCTCGCCGGGCCTCGGCTACTGCTCACCCTTGGCGCCCCCGTCGCCTCAGCTGTCCTTGCGCACGGGCCCCTTCCAGCCGCCCTTCCTGCCCCCGGCCCGCCGGCCCCGCTCGCTGCAGGAGTCCCCAGCCCCACGCCGAGCCGCTGGGCGCCTGGGCCCACCCGGCTCGCCGCTGCCGGGCTCACCCAGGCCGCCCTCGCCGCCCCTGGGGCTCTGCCACAGCCCGCGGCGCAGCTCCCTGAATCTGCCCTCGCGCCTCCCGCACACGTGGCGGCGCCTCAGCGAGCCACCCACTCGGGCTGTGAAGCCGCAAGTGCGCCTGCCCTTCCACCGACCGCCCAGGGCCGGGGCCTGGCGGGCGCCCCTGGAACACCGGGAGAGCCCGCGAGAACCCGAGGACTCAGAGACGCCCTGGACTGTGCCCCCACTGGCCCCCAGCTGGGA 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AATTAGCTCTGGGACCAAAAGAGTGAACCAGAGTTCAGTGAGTTGAGGTCCATCTTGAGGAGGAAGAGGAGGAGGAGAGCTGGTTCTGAGGCTTCAGGTCTCAGAGCTGCCACTCCCCACCTCCGCTGGCCTGCCCAGTTTTTCCCACCCCCTACCTCTTTTAGTGCAGGTTCTCAAAAGTGAGTTAGACTGGCCACCAACCAGACTTTGGACATGCAGCCTTAGGTCAGGCCATATGAAGCAATCAGCTATGCCCAGAGAAGGCAGTAACCACATGGCCACAGCCTACTCAGCCAGGGCAGAAAGTAAGAGGAGAGGACAGGGCTAGGCAGGGACCCCAGAAAGGAGCCAGCAGGAGGCATCTCCAGTTACCCAGCAGCTCCATCAGGTCTTGCTTCCTTTTGGTGAAGGAGATGGGGCATAGCTTATCACTCCCATTCTTCAGAGGAAACTGAGGCCCAGAGAGGACAAGGACTTTCCTGGACCCACACAGCCAGTCAGTGACAGAGCCTAGGGTCTGAGCCAGGCCTGACCCAACCTCCATTTCTGCCTCTCTACCCCTGCCCCCGCCCCAACACACACACACACACAAGTGGAGTTCCACTGAAACGCCCCTCCTTGCCCTGCCTTCTGAGCCGGCAGCCTGGCTCCCCACCCCATGTATTATTCAGCTCCTGAGAGCCAGCCAGCTCCTGTTACACTGACCGCAGCCCAGCACCTGCTCTGCCCATTCCCCTCCTCCCTTGCCTAGGACCTAGAGGGTTCAAAGTTCTCCTCCAAGATGACTTGGTGGGCTTTGGCCATCCCACCCTAGGCCCCACTTCTGGCCCAGTGCAGGTGTGCTGGTGATTTAGGGCAGGTGGCATTCCATCTCTGTGGCTCAATGTCTTCCTCTGTGAAGCCGAAGTGACCCAAGGGCTCCCTTCATGGGGTTGAGCCAGCTGTGGCCCAGGGAGGGCCTAACCAGGATGAGCACTGATGTTGCCATGACGACTCCGAGGCCAGAATGTCTCCCCCAGCACAGGCCTCATAGGCAGGCTTCCCCATCCTGGTAAACAACACCCACACACTTTCTACTACTGCTCTAGGGTGAAACCCAAGGCGCTCTAGAGGAGATGAATTATGGATCCGCCCTCCCGGAATCCTGGCTCGGCCCTCCCCACGCCACCCAGGGCCAGTCGGGTCTGCTCACAGCCCGAGGAGGCCGCGTGTCCAGCCGCGGGCAAGAGACAGAGCAGGTCCCTGTGTCTCCAAGTCCCTGAGCCCGTGACACCGGCCCCAGGCCCTGTAGAGAGCAGGCAGCCACCATGGCGAAGGAGGAAGATGAGGAGAAGAAAGCCAAGAAAGGGAAGAAGGGGAAGAAGGCACCGGAGCCGGAGAAGCCCAAACGGAGCCTGAAGGGGACGTCGCGGCTGTTCATGGGCTTCCGCGACCGTACACCCAAGATCTCCAAGAAGGGCCAGTTCCGCAGCGCCTCGGCCTTCTTCTGGGGCCTCCACACCGGCCCCCAGAAGACCAAGCGCAAGAGGAAGGCCCGCACCGTGCTCAAGTCCACGTCAAAGCTCATGACGCAGATGCGCATGGGCAAGAAGAAGCGGGCGATGAAGGGCAAGAAGCCGTCCTTCATGGTGATCCGCTTCCCAGGCCGCCGTGGCTACGGCCGCCTGCGGCCGCGCGCCCGGTCACTCAGCAAAGCGTCCACGGCCATCAACTGGCTCACAAAAAAGTTCCTCCTCAAGAAGGCCGAGGAGTCGGGCAGCGAACAGGCCACAGTGGACGCCTGGCTGCAGCGCTCGAGCTCCCGCATGGGCTCCCGCAAACTCCCCTTCCCGTCGGGTGCCGAGATCCTGCGGCCTGGGGGCCGGCTCCGGAGGTTCCCCCGCAGCCGCAGCATCTACGCGTCAGGCGAGCCCCTGGGCTTCCTGCCCTTCGAGGACGAGGCCCCATTCCATCACTCGGGCTCCCGCAAGTCGCTGTACGGGCTTGAGGGCTTCCAGGACCTGGGCGAGTATTATGACTATCACCGCGACGGCGACGACTACTACGACGGGCAGTCACTCCACCGCTACGAGGAGCAGGAACCCTACCTGGCGGGCCTCGGCCCCTACAGCCCGGCCTGGCCACCCTACGGCGACCACTACTACGGGTACCCGCCCGAGGATCCCTACGACTACTACCACCCCGACTATTACGGTGGCCCCTTTGATCCGGGGTACACCTACGGCTACGGCTACGACGATTACGAACCCCCATATGCGCCCCCGTCGGGGTACTCGTCTCCTTACAGCTACCACGATGGGTACGAGGGCGAGGCGCACCCTTATGGCTACTACCTGGATCCCTATGCGCCGTACGACGCGCCATACCCACCCTATGACCTCCCATACCACACTCCCTACGATGTACCCTACTTTGATCCCTACGGAGTCCACTACACCGTCCCCTATGCCGAAGGCGTCTATGGCGGTGGGGACGAGGCCATCTACCCCCCCGAGGTGCCCTATTTTTACCCGGAGGAGTCGGCTTCGGCCTTTGTGTACCCCTGGGTACCACCGCCCATCCCGTCGCCCCACAACCCGTATGCCCACGCCATGGATGACATCGCCGAGCTGGAGGAACCAGAGGACGCGGGCGTAGAGCGTCAGGGGACCTCCTTCCGCCTGCCCAGCGCCGCCTTCTTCGAGCAGCAAGGCATGGATAAGCCCGCCAGGTCCAAGCTGTCCCTCATCCGCAAGTTCCGCCTCTTCCCGCGACCCCAGGTGAAGCTGTTTGGGAAGGAGAAGCTGGAGGTGCCCCTGCCACCCTCTCTGGACATTCCTCTCCCCTTGGGGGATGCGGACGAAGAAGAGGACGAGGAGGAGCTGCCCCCGGTTTCCGCTGTGCCCTACGGCCACCCTTTCTGGGGCTTCCTCACGCCGCGCCAGCGCAACCTCCAGCGCGCGCTGTCGGCCTTCGGCGCCCACCGGGGCCTGGGCTTCGGCCCTGAGTTTGGCCGCCCCGTGCCTCGCCCTGCCACCTCGCTTGCGCGGTTCCTCAAGAAGACGCTGTCGGAGAAGAAGCCCATCGCGCGGCTCAGGGGCAGCCAGAAGGCCCGGGCGGGCGGCCCTGCTGTCAGGGAGGCGGCCTACAAACGCTTCGGCTACAAGCTGGCTGGCATGGACCCCGAGAAGCCCGGCACGCCCATCGTGCTGAGGAGGGCCCAGCCACGCGCTCGCAGCAGCAACGACGCGCGCCGCCCGCCCGCGCCACAGCCCGCGCCCAGGACCCTCTCCCACTGGAGCGCGCTCCTGTCTCCGCCCGTGCCCCCGCGGCCCCCAAGCTCCGGGCCCCCGCCCGCGCCGCCGCTCTCCCCGGCGCTCTCGGGCCTGCCCCGGCCGGCCTCGCCCTACGGCTCCCTCCGCCGCCACCCGCCGCCCTGGGCCGCCCCAGCGCACGTGCCACCGGCGCCGCAGGCCAGCTGGTGGGCCTTCGTGGAGCCCCCTGCCGTGAGCCCGGAGGTGCCCCCCGACCTACTAGCCTTCCCAGGGCCCCGACCCTCGTTCAGGGGCTCCCGCCGGAGAGGGGCGGCTTTCGGCTTCCCCGGGGCCTCTCCACGGGCGTCGCGGAGGCGAGCTTGGTCACCGCTGGCCTCGCCCCAGCCCTCGCTGAGGAGCTCGCCGGGCCTCGGCTACTGCTCACCCTTGGCGCCCCCGTCGCCTCAGCTGTCCTTGCGCACGGGCCCCTTCCAGCCGCCCTTCCTGCCCCCGGCCCGCCGGCCCCGCTCGCTGCAGGAGTCCCCAGCCCCACGCCGAGCCGCTGGGCGCCTGGGCCCACCCGGCTCGCCGCTGCCGGGCTCACCCAGGCCGCCCTCGCCGCCCCTGGGGCTCTGCCACAGCCCGCGGCGCAGCTCCCTGAATCTGCCCTCGCGCCTCCCGCACACGTGGCGGCGCCTCAGCGAGCCACCCACTCGGGCTGTGAAGCCGCAAGTGCGCCTGCCCTTCCACCGACCGCCCAGGGCCGGGGCCTGGCGGGCGCCCCTGGAACACCGGGAGAGCCCGCGAGAACCCGAGGACTCAGAGACGCCCTGGACTGTGCCCCCACTGGCCCCCAGCTGGGA 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Task1_train_23850 | This sequence variant lies in MYO15A (myosin XVA) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 3 | GGACCCACACAGCCAGTCAGTGACAGAGCCTAGGGTCTGAGCCAGGCCTGACCCAACCTCCATTTCTGCCTCTCTACCCCTGCCCCCGCCCCAACACACACACACACACAAGTGGAGTTCCACTGAAACGCCCCTCCTTGCCCTGCCTTCTGAGCCGGCAGCCTGGCTCCCCACCCCATGTATTATTCAGCTCCTGAGAGCCAGCCAGCTCCTGTTACACTGACCGCAGCCCAGCACCTGCTCTGCCCATTCCCCTCCTCCCTTGCCTAGGACCTAGAGGGTTCAAAGTTCTCCTCCAAGATGACTTGGTGGGCTTTGGCCATCCCACCCTAGGCCCCACTTCTGGCCCAGTGCAGGTGTGCTGGTGATTTAGGGCAGGTGGCATTCCATCTCTGTGGCTCAATGTCTTCCTCTGTGAAGCCGAAGTGACCCAAGGGCTCCCTTCATGGGGTTGAGCCAGCTGTGGCCCAGGGAGGGCCTAACCAGGATGAGCACTGATGTTGCCATGACGACTCCGAGGCCAGAATGTCTCCCCCAGCACAGGCCTCATAGGCAGGCTTCCCCATCCTGGTAAACAACACCCACACACTTTCTACTACTGCTCTAGGGTGAAACCCAAGGCGCTCTAGAGGAGATGAATTATGGATCCGCCCTCCCGGAATCCTGGCTCGGCCCTCCCCACGCCACCCAGGGCCAGTCGGGTCTGCTCACAGCCCGAGGAGGCCGCGTGTCCAGCCGCGGGCAAGAGACAGAGCAGGTCCCTGTGTCTCCAAGTCCCTGAGCCCGTGACACCGGCCCCAGGCCCTGTAGAGAGCAGGCAGCCACCATGGCGAAGGAGGAAGATGAGGAGAAGAAAGCCAAGAAAGGGAAGAAGGGGAAGAAGGCACCGGAGCCGGAGAAGCCCAAACGGAGCCTGAAGGGGACGTCGCGGCTGTTCATGGGCTTCCGCGACCGTACACCCAAGATCTCCAAGAAGGGCCAGTTCCGCAGCGCCTCGGCCTTCTTCTGGGGCCTCCACACCGGCCCCCAGAAGACCAAGCGCAAGAGGAAGGCCCGCACCGTGCTCAAGTCCACGTCAAAGCTCATGACGCAGATGCGCATGGGCAAGAAGAAGCGGGCGATGAAGGGCAAGAAGCCGTCCTTCATGGTGATCCGCTTCCCAGGCCGCCGTGGCTACGGCCGCCTGCGGCCGCGCGCCCGGTCACTCAGCAAAGCGTCCACGGCCATCAACTGGCTCACAAAAAAGTTCCTCCTCAAGAAGGCCGAGGAGTCGGGCAGCGAACAGGCCACAGTGGACGCCTGGCTGCAGCGCTCGAGCTCCCGCATGGGCTCCCGCAAACTCCCCTTCCCGTCGGGTGCCGAGATCCTGCGGCCTGGGGGCCGGCTCCGGAGGTTCCCCCGCAGCCGCAGCATCTACGCGTCAGGCGAGCCCCTGGGCTTCCTGCCCTTCGAGGACGAGGCCCCATTCCATCACTCGGGCTCCCGCAAGTCGCTGTACGGGCTTGAGGGCTTCCAGGACCTGGGCGAGTATTATGACTATCACCGCGACGGCGACGACTACTACGACCGGCAGTCACTCCACCGCTACGAGGAGCAGGAACCCTACCTGGCGGGCCTCGGCCCCTACAGCCCGGCCTGGCCACCCTACGGCGACCACTACTACGGGTACCCGCCCGAGGATCCCTACGACTACTACCACCCCGACTATTACGGTGGCCCCTTTGATCCGGGGTACACCTACGGCTACGGCTACGACGATTACGAACCCCCATATGCGCCCCCGTCGGGGTACTCGTCTCCTTACAGCTACCACGATGGGTACGAGGGCGAGGCGCACCCTTATGGCTACTACCTGGATCCCTATGCGCCGTACGACGCGCCATACCCACCCTATGACCTCCCATACCACACTCCCTACGATGTACCCTACTTTGATCCCTACGGAGTCCACTACACCGTCCCCTATGCCGAAGGCGTCTATGGCGGTGGGGACGAGGCCATCTACCCCCCCGAGGTGCCCTATTTTTACCCGGAGGAGTCGGCTTCGGCCTTTGTGTACCCCTGGGTACCACCGCCCATCCCGTCGCCCCACAACCCGTATGCCCACGCCATGGATGACATCGCCGAGCTGGAGGAACCAGAGGACGCGGGCGTAGAGCGTCAGGGGACCTCCTTCCGCCTGCCCAGCGCCGCCTTCTTCGAGCAGCAAGGCATGGATAAGCCCGCCAGGTCCAAGCTGTCCCTCATCCGCAAGTTCCGCCTCTTCCCGCGACCCCAGGTGAAGCTGTTTGGGAAGGAGAAGCTGGAGGTGCCCCTGCCACCCTCTCTGGACATTCCTCTCCCCTTGGGGGATGCGGACGAAGAAGAGGACGAGGAGGAGCTGCCCCCGGTTTCCGCTGTGCCCTACGGCCACCCTTTCTGGGGCTTCCTCACGCCGCGCCAGCGCAACCTCCAGCGCGCGCTGTCGGCCTTCGGCGCCCACCGGGGCCTGGGCTTCGGCCCTGAGTTTGGCCGCCCCGTGCCTCGCCCTGCCACCTCGCTTGCGCGGTTCCTCAAGAAGACGCTGTCGGAGAAGAAGCCCATCGCGCGGCTCAGGGGCAGCCAGAAGGCCCGGGCGGGCGGCCCTGCTGTCAGGGAGGCGGCCTACAAACGCTTCGGCTACAAGCTGGCTGGCATGGACCCCGAGAAGCCCGGCACGCCCATCGTGCTGAGGAGGGCCCAGCCACGCGCTCGCAGCAGCAACGACGCGCGCCGCCCGCCCGCGCCACAGCCCGCGCCCAGGACCCTCTCCCACTGGAGCGCGCTCCTGTCTCCGCCCGTGCCCCCGCGGCCCCCAAGCTCCGGGCCCCCGCCCGCGCCGCCGCTCTCCCCGGCGCTCTCGGGCCTGCCCCGGCCGGCCTCGCCCTACGGCTCCCTCCGCCGCCACCCGCCGCCCTGGGCCGCCCCAGCGCACGTGCCACCGGCGCCGCAGGCCAGCTGGTGGGCCTTCGTGGAGCCCCCTGCCGTGAGCCCGGAGGTGCCCCCCGACCTACTAGCCTTCCCAGGGCCCCGACCCTCGTTCAGGGGCTCCCGCCGGAGAGGGGCGGCTTTCGGCTTCCCCGGGGCCTCTCCACGGGCGTCGCGGAGGCGAGCTTGGTCACCGCTGGCCTCGCCCCAGCCCTCGCTGAGGAGCTCGCCGGGCCTCGGCTACTGCTCACCCTTGGCGCCCCCGTCGCCTCAGCTGTCCTTGCGCACGGGCCCCTTCCAGCCGCCCTTCCTGCCCCCGGCCCGCCGGCCCCGCTCGCTGCAGGAGTCCCCAGCCCCACGCCGAGCCGCTGGGCGCCTGGGCCCACCCGGCTCGCCGCTGCCGGGCTCACCCAGGCCGCCCTCGCCGCCCCTGGGGCTCTGCCACAGCCCGCGGCGCAGCTCCCTGAATCTGCCCTCGCGCCTCCCGCACACGTGGCGGCGCCTCAGCGAGCCACCCACTCGGGCTGTGAAGCCGCAAGTGCGCCTGCCCTTCCACCGACCGCCCAGGGCCGGGGCCTGGCGGGCGCCCCTGGAACACCGGGAGAGCCCGCGAGAACCCGAGGACTCAGAGACGCCCTGGACTGTGCCCCCACTGGCCCCCAGCTGGGACGTGGACATGCCTCCCACCCAACGCCCACCCTCCCCCTGGCCAGGAGGTGCAGGCAGCCGCCGAGGCTTTTCCAGGCCACCCCCTGTGCCGGAAAACCCCTTTCTCCAGCTCCTGGGCCCTGTGCCATCCCCCACCCTCCAGCCTGAGGATCCAGCTGCTGATATGACCAGGGTCTTCCTGGGCAGACACCATGAGCCGGGGCCTGGACAGCTCACCAAATCAGCTGGCCCAACCCCTGAGAAGCCTGAAGAAGAGGCCACCCTGGGGGACCCCCAGCTGCCAGCAGAGACCAAGCCTCCAACCCCAGCACCTCCCAAGGATGTCACTCCCCCCAAGGATATCACTCCCCCCAAGGATGTCCTCCCAGAGCAAAAGACATTAAGGCCCAGCCTCTCATACCCACTGGCTGCGTGTGACCAGACCAGGGCCACATGGCCACCATGGCACCGCTGGGGAACACTGCCCCAAGCCGCAGCCCCC 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GGACCCACACAGCCAGTCAGTGACAGAGCCTAGGGTCTGAGCCAGGCCTGACCCAACCTCCATTTCTGCCTCTCTACCCCTGCCCCCGCCCCAACACACACACACACACAAGTGGAGTTCCACTGAAACGCCCCTCCTTGCCCTGCCTTCTGAGCCGGCAGCCTGGCTCCCCACCCCATGTATTATTCAGCTCCTGAGAGCCAGCCAGCTCCTGTTACACTGACCGCAGCCCAGCACCTGCTCTGCCCATTCCCCTCCTCCCTTGCCTAGGACCTAGAGGGTTCAAAGTTCTCCTCCAAGATGACTTGGTGGGCTTTGGCCATCCCACCCTAGGCCCCACTTCTGGCCCAGTGCAGGTGTGCTGGTGATTTAGGGCAGGTGGCATTCCATCTCTGTGGCTCAATGTCTTCCTCTGTGAAGCCGAAGTGACCCAAGGGCTCCCTTCATGGGGTTGAGCCAGCTGTGGCCCAGGGAGGGCCTAACCAGGATGAGCACTGATGTTGCCATGACGACTCCGAGGCCAGAATGTCTCCCCCAGCACAGGCCTCATAGGCAGGCTTCCCCATCCTGGTAAACAACACCCACACACTTTCTACTACTGCTCTAGGGTGAAACCCAAGGCGCTCTAGAGGAGATGAATTATGGATCCGCCCTCCCGGAATCCTGGCTCGGCCCTCCCCACGCCACCCAGGGCCAGTCGGGTCTGCTCACAGCCCGAGGAGGCCGCGTGTCCAGCCGCGGGCAAGAGACAGAGCAGGTCCCTGTGTCTCCAAGTCCCTGAGCCCGTGACACCGGCCCCAGGCCCTGTAGAGAGCAGGCAGCCACCATGGCGAAGGAGGAAGATGAGGAGAAGAAAGCCAAGAAAGGGAAGAAGGGGAAGAAGGCACCGGAGCCGGAGAAGCCCAAACGGAGCCTGAAGGGGACGTCGCGGCTGTTCATGGGCTTCCGCGACCGTACACCCAAGATCTCCAAGAAGGGCCAGTTCCGCAGCGCCTCGGCCTTCTTCTGGGGCCTCCACACCGGCCCCCAGAAGACCAAGCGCAAGAGGAAGGCCCGCACCGTGCTCAAGTCCACGTCAAAGCTCATGACGCAGATGCGCATGGGCAAGAAGAAGCGGGCGATGAAGGGCAAGAAGCCGTCCTTCATGGTGATCCGCTTCCCAGGCCGCCGTGGCTACGGCCGCCTGCGGCCGCGCGCCCGGTCACTCAGCAAAGCGTCCACGGCCATCAACTGGCTCACAAAAAAGTTCCTCCTCAAGAAGGCCGAGGAGTCGGGCAGCGAACAGGCCACAGTGGACGCCTGGCTGCAGCGCTCGAGCTCCCGCATGGGCTCCCGCAAACTCCCCTTCCCGTCGGGTGCCGAGATCCTGCGGCCTGGGGGCCGGCTCCGGAGGTTCCCCCGCAGCCGCAGCATCTACGCGTCAGGCGAGCCCCTGGGCTTCCTGCCCTTCGAGGACGAGGCCCCATTCCATCACTCGGGCTCCCGCAAGTCGCTGTACGGGCTTGAGGGCTTCCAGGACCTGGGCGAGTATTATGACTATCACCGCGACGGCGACGACTACTACGACCGGCAGTCACTCCACCGCTACGAGGAGCAGGAACCCTACCTGGCGGGCCTCGGCCCCTACAGCCCGGCCTGGCCACCCTACGGCGACCACTACTACGGGTACCCGCCCGAGGATCCCTACGACTACTACCACCCCGACTATTACGGTGGCCCCTTTGATCCGGGGTACACCTACGGCTACGGCTACGACGATTACGAACCCCCATATGCGCCCCCGTCGGGGTACTCGTCTCCTTACAGCTACCACGATGGGTACGAGGGCGAGGCGCACCCTTATGGCTACTACCTGGATCCCTATGCGCCGTACGACGCGCCATACCCACCCTATGACCTCCCATACCACACTCCCTACGATGTACCCTACTTTGATCCCTACGGAGTCCACTACACCGTCCCCTATGCCGAAGGCGTCTATGGCGGTGGGGACGAGGCCATCTACCCCCCCGAGGTGCCCTATTTTTACCCGGAGGAGTCGGCTTCGGTCTTTGTGTACCCCTGGGTACCACCGCCCATCCCGTCGCCCCACAACCCGTATGCCCACGCCATGGATGACATCGCCGAGCTGGAGGAACCAGAGGACGCGGGCGTAGAGCGTCAGGGGACCTCCTTCCGCCTGCCCAGCGCCGCCTTCTTCGAGCAGCAAGGCATGGATAAGCCCGCCAGGTCCAAGCTGTCCCTCATCCGCAAGTTCCGCCTCTTCCCGCGACCCCAGGTGAAGCTGTTTGGGAAGGAGAAGCTGGAGGTGCCCCTGCCACCCTCTCTGGACATTCCTCTCCCCTTGGGGGATGCGGACGAAGAAGAGGACGAGGAGGAGCTGCCCCCGGTTTCCGCTGTGCCCTACGGCCACCCTTTCTGGGGCTTCCTCACGCCGCGCCAGCGCAACCTCCAGCGCGCGCTGTCGGCCTTCGGCGCCCACCGGGGCCTGGGCTTCGGCCCTGAGTTTGGCCGCCCCGTGCCTCGCCCTGCCACCTCGCTTGCGCGGTTCCTCAAGAAGACGCTGTCGGAGAAGAAGCCCATCGCGCGGCTCAGGGGCAGCCAGAAGGCCCGGGCGGGCGGCCCTGCTGTCAGGGAGGCGGCCTACAAACGCTTCGGCTACAAGCTGGCTGGCATGGACCCCGAGAAGCCCGGCACGCCCATCGTGCTGAGGAGGGCCCAGCCACGCGCTCGCAGCAGCAACGACGCGCGCCGCCCGCCCGCGCCACAGCCCGCGCCCAGGACCCTCTCCCACTGGAGCGCGCTCCTGTCTCCGCCCGTGCCCCCGCGGCCCCCAAGCTCCGGGCCCCCGCCCGCGCCGCCGCTCTCCCCGGCGCTCTCGGGCCTGCCCCGGCCGGCCTCGCCCTACGGCTCCCTCCGCCGCCACCCGCCGCCCTGGGCCGCCCCAGCGCACGTGCCACCGGCGCCGCAGGCCAGCTGGTGGGCCTTCGTGGAGCCCCCTGCCGTGAGCCCGGAGGTGCCCCCCGACCTACTAGCCTTCCCAGGGCCCCGACCCTCGTTCAGGGGCTCCCGCCGGAGAGGGGCGGCTTTCGGCTTCCCCGGGGCCTCTCCACGGGCGTCGCGGAGGCGAGCTTGGTCACCGCTGGCCTCGCCCCAGCCCTCGCTGAGGAGCTCGCCGGGCCTCGGCTACTGCTCACCCTTGGCGCCCCCGTCGCCTCAGCTGTCCTTGCGCACGGGCCCCTTCCAGCCGCCCTTCCTGCCCCCGGCCCGCCGGCCCCGCTCGCTGCAGGAGTCCCCAGCCCCACGCCGAGCCGCTGGGCGCCTGGGCCCACCCGGCTCGCCGCTGCCGGGCTCACCCAGGCCGCCCTCGCCGCCCCTGGGGCTCTGCCACAGCCCGCGGCGCAGCTCCCTGAATCTGCCCTCGCGCCTCCCGCACACGTGGCGGCGCCTCAGCGAGCCACCCACTCGGGCTGTGAAGCCGCAAGTGCGCCTGCCCTTCCACCGACCGCCCAGGGCCGGGGCCTGGCGGGCGCCCCTGGAACACCGGGAGAGCCCGCGAGAACCCGAGGACTCAGAGACGCCCTGGACTGTGCCCCCACTGGCCCCCAGCTGGGACGTGGACATGCCTCCCACCCAACGCCCACCCTCCCCCTGGCCAGGAGGTGCAGGCAGCCGCCGAGGCTTTTCCAGGCCACCCCCTGTGCCGGAAAACCCCTTTCTCCAGCTCCTGGGCCCTGTGCCATCCCCCACCCTCCAGCCTGAGGATCCAGCTGCTGATATGACCAGGGTCTTCCTGGGCAGACACCATGAGCCGGGGCCTGGACAGCTCACCAAATCAGCTGGCCCAACCCCTGAGAAGCCTGAAGAAGAGGCCACCCTGGGGGACCCCCAGCTGCCAGCAGAGACCAAGCCTCCAACCCCAGCACCTCCCAAGGATGTCACTCCCCCCAAGGATATCACTCCCCCCAAGGATGTCCTCCCAGAGCAAAAGACATTAAGGCCCAGCCTCTCATACCCACTGGCTGCGTGTGACCAGACCAGGGCCACATGGCCACCATGGCACCGCTGGGGAACACTGCCCCAAGCCGCAGCCCCC 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Task1_train_23851 | A genetic alteration is present in MYO15A (myosin XVA) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 3 | GGTCTCCTAGCTGGTTGGTGTCAGAAACAGGACTTGAATTCAGGCCTATCTGATCAAGGCACTGCACTGAGTTGGGGAGGGAGACCCATGCCAGAACCAGCCCTGGGGGCACTGACGGCTTCTCTCTGTGTCCTTCTAGAGACCTCCAGGAAACCACTGTGCTGTCCAACCTCAAGATTAGATTTGAACGGAACCTCATCTACGTAAGGCCTGGGGCTGGCCCTGCCCTGGGCCTAGGTCAGGAAGGCAGCTGCCTCCTGGGGCCGGGTGGGACGCACAGATTTCTCTTGTGGGCCCTAGCCCCTGTGGCCTCTGCCTAGAATGCCAGAGCCTAGAACTAAAATCTGAAGTCTTAAAACACAGTCTTAGAATGGTGGATGCCAGAGGCCGGGCACAGTGGCTCACCCTGTAATCCCAGCACTTTGGGAGACCGAGGCAGGTGGATCACGAGGTCAAGAGATCGAGACCATCCTGGTTAACACGGTGAAACCCCCTCTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCAGGTGTAGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGAGGCAGAGCTTGCAGTGAGCGGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATGGTGGATGCCAGAGGCAGAAAGCTGGAGACAGAGAATCCAGAAATATGTGACACCCCCACCATCTGGGACCTGACAGATAGAACTTCCAGAGTCCTAGAATCCATAGACCTGGACCCCAGAGTGGGGATGGCCAGAGGGGTCAGAGGGGAGCCTCTGACCTGAGAATGACAGAACAGAGGGCCAGGGGCTCAGTGCCAGTGTGGAAGACAAGGACACCCAGAAGGGCTCTGGCCACATCAGGATCCCCTGAGTTCCCCAACTCCTCACTCTAGGCAGTGGAGGTTTGCCCTCAACAGGAGCCAGAAGTTCCTGGAGCCTGGGCCCAACCTTGAACAAATGAAGTAGGCAGGAGCCCACCCAGGATCGTGGCTGTGGGGTTTGCTCACTCCAGACTCCTCTCAGCTCAGCCTGGTGCAGTGCCTGAGATTCCACTGTTAGAGCACGTAGCCCAGCTAGCTGGTAGAGGGCTCTAGATGGGAATCCCGAGTCCAGGCAGCCAGATATCTGTCCGGATGGAAACAGGGAGCCAGGCTCCCAGCATAGGGGAGGGAGGGACATAGAGGTCTGCAAGGAGCCACGACGCTGAGGCCACCGTCTGCCCAGCAGACATACATTGGGAGCATCCTGGTGTCGGTGAACCCATACCAAATGTTTGGAATCTATGGGCCGGAGCAGGTGCAGCAGTACAACGGACGGGCCCTGGGAGAGAATCCCCCGTGAGTGTCTCGGGGGCGCTGCCCTGGGGTCTCTTGGGCCCCTCTTTCCCCTGCTCTGGGAGCCTGGATCCCGGCTGCACCTGAGCCATGAGTCAGAGGTAATGGGGAAAGGCAGCCCACCTACTCAATCTGACAGTCTCTCCCCAGGCAGGGCCGAAGCTACAGGTTGGAGGCCACTGTCGTTCAGACCAGGATGGGGGTGGGAGCATTCCCCCAACAGGGTGAGGGGTGGGCAGGATTGGCTGTTTGGCTGGATACGGATGCTCCCTGCCCAATCCCTGGGAGGTGTGGGAGCTTAGAGGCAGGGGCCAGCTCTAATGACCTGTCTCCCCAGGCACCTCTTTGCTGTTGCAAATCTCGCCTTCGCCAAAATGCTCGATGCCAAACAGAACCAGTGCATAATCATTAGGTGAGTGGGCTGCCTTTATGTGGGGGATAAATGGGGGACCTTAGGTAGCAGGCCTGCATCTGGCCAGAACTGCTGTGGGACCTTGGAAGATTGCCTGGTACCTCTGGGTTGGCCCACCGTACATATCCTCTTGCTTCATGATGGGAGTCAGGGTGCCCCAGAAGAGGCAGCGAAAGGTTGGAGCTCACTCTGCCCCTTTGCTCGGTCAGTGGAGAGAGCGGCTCTGGCAAAACTGAGGCCACCAAGCTGATTCTGCGCTACCTGGCCGCCATGAACCAGAAACGGGAGGTCATGCAGCAGGTGAGTCTACCTGTCTCCCCAGGACCCTAGGCTGAACACCCTTTGATAAGCACACCTCATGTACTCCCGAAGAGGCAAGGCTCCTTGGCCCACCAGGAAGATGAGGAGGCTGAGTTCCAGAAGGGGGCCTTGCCCAGGGCTGCTTTTTCTGCCACCCTTCCCAGGGGTGTGCCTGAGGGGTGAGAGTTCCTGCCTGTCTGTGTTTCTGTGGCAGCTCCTGCTTCCAGCCCTCCGGGTCCAGTTCAGAGTGGAGACCACATAGGGAAGGGGAGTCCACATAGGGAAGGGGAGTCATCCCATCTCTCCCACCTGGCCTCACCTTCCTGGTCATGGCCCTGGGGCCACCATATTCTCACACCCAGAAGCTATGCAGCCCCCAGCGGTCAAGAGGCAGGGCAGGCCTGAGTGTGGGTTAGGGGTGGGGTGGGGGAGGCAGTAGATGCCAGGCCAGAGTCTGAAGGATTGGAGCTTTGCTGACAAAGACAGTGCTAAGCCCTCTGAGCCTGAGAATGGTAGAACTGCATCCGTTCCCTCAGTAAAGATCTACTGAAGACCTACTGTGTGCCAGTCCCAGGCTAGGCACTGGGGAGGGGTAGCGGCAACTCAGGCAAATGTTCACACCCTTATGGGAACTTCATTCTAGTGGTGGAGGTGGGAAGAAAAAAAAAGATATATATATATATATATATATATATACACTTATATAAGTAAATTATGTGTATGTGAAAGGGTAGGTGGTGAGTTGTGGAGGAAAAAAGTGAAGAGAAGGGTGGCGAGTGTTGGGGGTTGCAATCGTAAGTGTGGTGGTCAGGGTAGGCTGTACTGAGAAGACAAGAGAGTGGGCTCTAGGAAAGTCTAGGGGAACAGTGAAGAGGCAGAGGGAGGAGCGCCTGCACTTTGAGGTGCAAGCAGATTGGGTCCAGGTGCAGGTCAAAGCCAGCCAGCAACCTACAGAGAAGACAGACTGGGGTGTGAGAGGGAGAACTGTCGGAGGGTGACCCCAGACATTCGGTCTGAGCCACAGGCAGCATGGAGGCAGGCTGGGCAGTGGAGGAGGAGCAGGTTTGTTGAGAAGAGGTGTCTGCTAGGCATCTACACAGAGATGGCAGGGAGGTGATGGATGCACCACCAGCCTGGAGCTCAGGAGAAGGTGGGACTGGCCTGCCAGCTCAGACTCCAGAACCACAGACCCAGACTTCCCCAACCCTGGGGCCCACAAAGGTTTGCACATGGCACAATGTCCTAGCCAGGGGCGAGCCCAGCAAGGTGATCCTGGGGGCGTAGGTGGAGGCTGCTCAGGCTTTGCAGTCAGGTTCCAGCCTGGCCTGGCCCCCTCTGATGCCTGCCTTGGCCTGCCAGGGTCTCCCATCCCAGCCCAGGCCTCCTGATGACCAAACAGATCATCCCTTGCTCCAGAGTTTTCAAAACCTTTCAGGTCAGACTTGTGGAATGACTAGGTAGGTAGGCAGGGAAAGAAGTAAGTGTACCTCGTGCACCTCCTGTGGCCAGGCACAGTGCTGGGTTCCTTCAGTTATCGTCACACCGGAGCTTTACGGCAACCCTGGGAGGTAGGTACACTTGTATCCATTTATAGATGGGAACACTGAGGCCTAAGAAGGGAGGAGTGAGGTGGTGCAGGAGCTGAGATTTGCAGTCCATGGCAGAGAGCTGTCAGGGAGGACGGATGGAGCTGTGGATGTGGCTGAGTCTGGGAGTTTGTGTGTGCCAGGCACACAGAATGTGTGAGGATGTGCCTGCCAGCTGTGATGACCATGGGGCTCCTTTCCTAGACATGGCTCTTCCCTCCTCAGATAATCAAACAGTCCAGTTCAGTTTTAGGCATGGCTGGATCCAGAATCTTAAACAATGTTTCTTGTCTTGGCTCCACCCTCCCCCATGTATAGGCATCATCCTCAATCTGTCTCCTATTGGTCAGCAAGCTGGCACCATAATGATCAA 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GGTCTCCTAGCTGGTTGGTGTCAGAAACAGGACTTGAATTCAGGCCTATCTGATCAAGGCACTGCACTGAGTTGGGGAGGGAGACCCATGCCAGAACCAGCCCTGGGGGCACTGACGGCTTCTCTCTGTGTCCTTCTAGAGACCTCCAGGAAACCACTGTGCTGTCCAACCTCAAGATTAGATTTGAACGGAACCTCATCTACGTAAGGCCTGGGGCTGGCCCTGCCCTGGGCCTAGGTCAGGAAGGCAGCTGCCTCCTGGGGCCGGGTGGGACGCACAGATTTCTCTTGTGGGCCCTAGCCCCTGTGGCCTCTGCCTAGAATGCCAGAGCCTAGAACTAAAATCTGAAGTCTTAAAACACAGTCTTAGAATGGTGGATGCCAGAGGCCGGGCACAGTGGCTCACCCTGTAATCCCAGCACTTTGGGAGACCGAGGCAGGTGGATCACGAGGTCAAGAGATCGAGACCATCCTGGTTAACACGGTGAAACCCCCTCTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCAGGTGTAGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGAGGCAGAGCTTGCAGTGAGCGGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATGGTGGATGCCAGAGGCAGAAAGCTGGAGACAGAGAATCCAGAAATATGTGACACCCCCACCATCTGGGACCTGACAGATAGAACTTCCAGAGTCCTAGAATCCATAGACCTGGACCCCAGAGTGGGGATGGCCAGAGGGGTCAGAGGGGAGCCTCTGACCTGAGAATGACAGAACAGAGGGCCAGGGGCTCAGTGCCAGTGTGGAAGACAAGGACACCCAGAAGGGCTCTGGCCACATCAGGATCCCCTGAGTTCCCCAACTCCTCACTCTAGGCAGTGGAGGTTTGCCCTCAACAGGAGCCAGAAGTTCCTGGAGCCTGGGCCCAACCTTGAACAAATGAAGTAGGCAGGAGCCCACCCAGGATCGTGGCTGTGGGGTTTGCTCACTCCAGACTCCTCTCAGCTCAGCCTGGTGCAGTGCCTGAGATTCCACTGTTAGAGCACGTAGCCCAGCTAGCTGGTAGAGGGCTCTAGATGGGAATCCCGAGTCCAGGCAGCCAGATATCTGTCCGGATGGAAACAGGGAGCCAGGCTCCCAGCATAGGGGAGGGAGGGACATAGAGGTCTGCAAGGAGCCACGACGCTGAGGCCACCGTCTGCCCAGCAGACATACATTGGGAGCATCCTGGTGTCGGTGAACCCATACCAAATGTTTGGAATCTATGGGCCGGAGCAGGTGCAGCAGTACAACGGACGGGCCCTGGGAGAGAATCCCCCGTGAGTGTCTCGGGGGCGCTGCCCTGGGGTCTCTTGGGCCCCTCTTTCCCCTGCTCTGGGAGCCTGGATCCCGGCTGCACCTGAGCCATGAGTCAGAGGTAATGGGGAAAGGCAGCCCACCTACTCAATCTGACAGTCTCTCCCCAGGCAGGGCCGAAGCTACAGGTTGGAGGCCACTGTCGTTCAGACCAGGATGGGGGTGGGAGCATTCCCCCAACAGGGTGAGGGGTGGGCAGGATTGGCTGTTTGGCTGGATACGGATGCTCCCTGCCCAATCCCTGGGAGGTGTGGGAGCTTAGAGGCAGGGGCCAGCTCTAATGACCTGTCTCCCCAGGCACCTCTTTGCTGTTGCAAATCTCGCCTTCGCCAAAATGCTCGATGCCAAACAGAACCAGTGCATAATCATTAGGTGAGTGGGCTGCCTTTATGTGGGGGATAAATGGGGGACCTTAGGTAGCAGGCCTGCATCTGGCCAGAACTGCTGTGGGACCTTGGAAGATTGCCTGGTACCTCTGGGTTGGCCCACCGTACATATCCTCTTGCTTCATGATGGGAGTCAGGGTGCCCCAGAAGAGGCAGCGAAAGGTTGGAGCTCACTCTGCCCCTTTGCTCGGTCAGTGAAGAGAGCGGCTCTGGCAAAACTGAGGCCACCAAGCTGATTCTGCGCTACCTGGCCGCCATGAACCAGAAACGGGAGGTCATGCAGCAGGTGAGTCTACCTGTCTCCCCAGGACCCTAGGCTGAACACCCTTTGATAAGCACACCTCATGTACTCCCGAAGAGGCAAGGCTCCTTGGCCCACCAGGAAGATGAGGAGGCTGAGTTCCAGAAGGGGGCCTTGCCCAGGGCTGCTTTTTCTGCCACCCTTCCCAGGGGTGTGCCTGAGGGGTGAGAGTTCCTGCCTGTCTGTGTTTCTGTGGCAGCTCCTGCTTCCAGCCCTCCGGGTCCAGTTCAGAGTGGAGACCACATAGGGAAGGGGAGTCCACATAGGGAAGGGGAGTCATCCCATCTCTCCCACCTGGCCTCACCTTCCTGGTCATGGCCCTGGGGCCACCATATTCTCACACCCAGAAGCTATGCAGCCCCCAGCGGTCAAGAGGCAGGGCAGGCCTGAGTGTGGGTTAGGGGTGGGGTGGGGGAGGCAGTAGATGCCAGGCCAGAGTCTGAAGGATTGGAGCTTTGCTGACAAAGACAGTGCTAAGCCCTCTGAGCCTGAGAATGGTAGAACTGCATCCGTTCCCTCAGTAAAGATCTACTGAAGACCTACTGTGTGCCAGTCCCAGGCTAGGCACTGGGGAGGGGTAGCGGCAACTCAGGCAAATGTTCACACCCTTATGGGAACTTCATTCTAGTGGTGGAGGTGGGAAGAAAAAAAAAGATATATATATATATATATATATATATACACTTATATAAGTAAATTATGTGTATGTGAAAGGGTAGGTGGTGAGTTGTGGAGGAAAAAAGTGAAGAGAAGGGTGGCGAGTGTTGGGGGTTGCAATCGTAAGTGTGGTGGTCAGGGTAGGCTGTACTGAGAAGACAAGAGAGTGGGCTCTAGGAAAGTCTAGGGGAACAGTGAAGAGGCAGAGGGAGGAGCGCCTGCACTTTGAGGTGCAAGCAGATTGGGTCCAGGTGCAGGTCAAAGCCAGCCAGCAACCTACAGAGAAGACAGACTGGGGTGTGAGAGGGAGAACTGTCGGAGGGTGACCCCAGACATTCGGTCTGAGCCACAGGCAGCATGGAGGCAGGCTGGGCAGTGGAGGAGGAGCAGGTTTGTTGAGAAGAGGTGTCTGCTAGGCATCTACACAGAGATGGCAGGGAGGTGATGGATGCACCACCAGCCTGGAGCTCAGGAGAAGGTGGGACTGGCCTGCCAGCTCAGACTCCAGAACCACAGACCCAGACTTCCCCAACCCTGGGGCCCACAAAGGTTTGCACATGGCACAATGTCCTAGCCAGGGGCGAGCCCAGCAAGGTGATCCTGGGGGCGTAGGTGGAGGCTGCTCAGGCTTTGCAGTCAGGTTCCAGCCTGGCCTGGCCCCCTCTGATGCCTGCCTTGGCCTGCCAGGGTCTCCCATCCCAGCCCAGGCCTCCTGATGACCAAACAGATCATCCCTTGCTCCAGAGTTTTCAAAACCTTTCAGGTCAGACTTGTGGAATGACTAGGTAGGTAGGCAGGGAAAGAAGTAAGTGTACCTCGTGCACCTCCTGTGGCCAGGCACAGTGCTGGGTTCCTTCAGTTATCGTCACACCGGAGCTTTACGGCAACCCTGGGAGGTAGGTACACTTGTATCCATTTATAGATGGGAACACTGAGGCCTAAGAAGGGAGGAGTGAGGTGGTGCAGGAGCTGAGATTTGCAGTCCATGGCAGAGAGCTGTCAGGGAGGACGGATGGAGCTGTGGATGTGGCTGAGTCTGGGAGTTTGTGTGTGCCAGGCACACAGAATGTGTGAGGATGTGCCTGCCAGCTGTGATGACCATGGGGCTCCTTTCCTAGACATGGCTCTTCCCTCCTCAGATAATCAAACAGTCCAGTTCAGTTTTAGGCATGGCTGGATCCAGAATCTTAAACAATGTTTCTTGTCTTGGCTCCACCCTCCCCCATGTATAGGCATCATCCTCAATCTGTCTCCTATTGGTCAGCAAGCTGGCACCATAATGATCAA 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Task1_train_23852 | Chromosome 17 houses a mutation in gene MYO15A (myosin XVA). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Nonsyndromic genetic hearing loss | GCAGTATTTCCTGGACTAAATGGGACAGATGGAGGGAACTGGCCCCATCCCCAAAATTACAGGTATTGTTTCTGTGGTGACTGGACCTCCTTTGCTTCTTCCCTAAAAGATTATCCTGAGGAAGTGCCTCAGCTGAAGAAAGTGCCACGTACACACTAGGCCCATGCTCATCACTCGAGTGGACTCTGGAGTCCCTGGGCATGTCATTTCACCTCTCTAAGCTTCAGTTTCCTAATCTGCAAAACAGGGGTGATATTAGTACCTACCTCATGGGATTGTTAACAACGGCATTATCAGGGCAATGTGTCTGGCACACAGTAGGTGCTTAAATAGGTGGGAGCTTGTGATCAGCCATGGTCACCCCTGGGCAGCTCTGCCCGTGAGATGGTATTCCTTTTGTTTTTTGTTTTTGTTTTTGTTTTTTTTTAGACAGTCTCACTCTGTCACCAGGCTGGAGTGCAGTGGTGCCATCTTGGCTCACTGCAATGTCTGCCTCCCAGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACGACCACGCCCGGCTAATTTTTTGTATTTTTAGTACAGACAGTGTTTCACCATGTTGGTCAGGATAGTCTGGATCTCCGGGCCTCGTGATCTGCCCACCTCGGCCTCCCAAACTCCTGAAATTACAGGCGTGAGCCACCATGCCCAGCCGATGCTATTCCTTTTTCCATCCCTTTAGCAGATATTTTTGAGAGCCTATTAAGCACCAGGTCTGTGTAGACGCTGGGGACTCAGAGATGTGCAAACAGTAGATCCGTGCCTGTAGGATTTGACATTCTAGTGGGGAGACAGACAATAATACCCAAGAAAATAGAGAGTTTGCCAATGGGGCTGAGGGCTACTGGAGAGAGAATTCTGGTGGCCTTCCTGTGAGAGGTAAGGGGTTGGGGGGTGGGGCATGCAGGTGCGTGGGAGCAGTGACTTCCAAGCAGAGGGAACAGGAGATGCCAATGGTCAGAGGCAGGAGTGGGCCTGGGTGTCAGGGAACAGTGAGGAAGGCCAGGGAGGATCCTTGGCTGGTGGTAGCCATGGGGGTGGGGAGAAGAGGACATCCCCAGAGCTGTTTGGAAGGCAAACTCAGCATATTTTCATACCTTGGAGACCCCATGGCAGTCCCCAAGCCTGGACCCCTGGGGTCTCTGAGCCTCACAGGTTTTTACTAGTCCCTCCCTGGTCTGAGGCTCCTAGTCTCCTGGAGAGAGTGGTGGTCGGTCCTGCTAGTGACTCCATTCTGTTCTTGTCTGTCTCTTTGTCCTCCCTCCTGGACGCTCTTGAAGATAAAGGTACTCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCCAGGAAAATGCGTGTGGATGTGCCTGCTCCTGTGTGGGTGGAGGGACAGGCAGGAAAGGACATCCAAAGGCCTGTCCTAGGCAGGGCTGGGGCTTGTGGTCAGGGGCTGCTGTGGGGGGCCATGGAGGCTGGAATGGGGAAGCATGGGGCTTGCTGTGTGGGAGTTGGGCAGCATGGGGTGGGAAACACTGGGGGGCACTGGAGAGACCTCAGGATTCTCTAGGGAGCCCACCTCTGGTCATCTCTCATAAAGGGAGGTCCTTGGGAAGGCTCATGTCTGGGTGTCCCCAGCTATGCCCCCCACCCAGGCCCCCAGAACAGTGCCTAGCCCCTCAATTCCCACATCTCCTTCTGGAGTCCAGATCCTGGAGGCAACACCCCTCTTGGAGTCCTTCGGTAATGCCAAAACCGTCAGGAACGACAACTCCAGCCGCTTTGGGAAGTTTGTGGAAATCTTTCTGGAAGGGTGAGTTGGGACAGTGGAGGGCCTCCCAAAAGCCTTGCAGTGTCTTCCATGTCCTGCCACAGCCCCTCGGAGCCAACACCAGCCCTCCTACCCTCACTGAGAGCTGACTGTGCTCCCCACCCCAGGGGCGTGATCTCTGGTGCCATAACCTCCCAGTACCTGCTTGAGAAATCCAGGATCGTGTTTCAGGTGGGCCACCCCCTCCCAGGCCTCTGTGTTGGGCAGGGTCGGGGTGGGAGGTACAGATACTCAGAGCCTGGCCCCTGGTAGGGCTAGGTAGACGTCAAATTAATGAACGAATACATGCGTACATGTGTACATGTGAGCCCAGGACCTCCCCTCCCCGACCCTCCTCCAGCCACGGTGGCTCCTCCCTGCCCCGCAGCACACAGGCACGCTCCTGCCAGGGCCTTTGCACCTTCTGTTCCTTCCCTCAGGAGCACTTATCCTTCAGGCACCTGCTTGGCCAAACCCCTCACCTCCTCCAAGTCTCCCCTACAATTTCACCCACTCAGGAAGCTCCCCATTTAAAAACGCAGCCCCTCTCCATCCCATCAGAGCCCCTACCCCGTCCACTGCTTTATTTCTCTCCAGTGTACTTTTCCCTGTCTCATATATTTTATGTTTTAAGCAGTTATTTGCTGAGTGTCTGTCTCCCTAGCTAGCAGGTGGGCTCCATCAGGTCAGGGGCTTCTCTCTACGTTGTTCCCCACTATGTCCCAAGGGCCTAGGACAGGGCTTGGTGCACAGGAAGTGCTCAGCCATCAAGAAGCTCTGTGTGTGCACATGTGGGCTATGGACACACATGTATGCAGGTGTGTGTGGCCGGTACACATAAGAGAAGACGGGTCCCTTTTCTCTTATTTCTCCTAACCAAATAAAATCCCACCAGAACCCTCTCAAACTTCAATCATACCAGGGCACCTCTGCTTCTGCCCTCACCCGCAGCTGGCACCAGGCTGGGAGCCTCACCCATCACAGAGGCGCGTGTTCTCATCTGCAGCCCACTGTGTGCATGTGCACTTGTGGGCAGGCTTGGGCTTGTATGTGTGCCTGGGGGTCACCTAGGTAGGTGGCTCCCTTCTCTGTGCCCACCTACCCACTCTACAGGCCAAAAACGAGAGGAATTACCACATCTTCTACGAGTTGCTGGCCGGGTTGCCTGCCCAGCTCAGGCAGGCCTTTAGCCTGCAAGAGGCTGAGACCTACTACTATCTGAACCAGGTGAGTGCCAGCAGGCATCTGAAGGCCCCTGGCCCTGGTCCTCCCACCCCGACGCCCCTGGCTGGGCCTTGGGAGCCGAGTTGTGAGTGATGGAGTGTGAAGGTGAAGGAGATTTGGGGAGGGTGAGTTTGGATTTAAGACATCTCATGGCAGTGAGGGGGACCAGGAGTCTTCTGGGTCCAAAGCGGAAGCAGGAAAGGCCTACCTGACTTCATTTCTCTGGAACCTGGAACAGAACCAACCAGTCTAGAGTTTCTACACTTCCCCTCTCTGTGCCTCAGTTTCCTCACCTGTAAAATGGGGACAACATAGTACCACTTTGCAGGGATGTAGTGAGGCTTAGATGAGGAAACGCATGTAAAGAGCTTAGCACAGGGCCTGGCATGCAGTACATGCTCAGTAAACACTTGCTACTCTTTTCATTACTATCACTGGGCAGCTGCAAAGGTCAACAGGTGACAACCCCTGCCACACATTGCACTTAGAATCTATGAACTCCGTCCTCAGCCGTGCTCAGAGCCTCCGTGCCCATGAGAGTGAAATGACAGCTTGAGTGACCAACTCAGGCCACCACACTACTGGTCAGGGCAGAGCAGGACCTGGAGGGCTCCCCAGCCCCACCCAAGCTCCCTGACCCTCAGCCTCTGCCCTCATGCAGGGTGGGAACTGTGAGATAGCAGGAAAGAGCGATGCAGATGACTTTCGCCGGCTCCTGGCTGCCATGGAGGTGTTGGGCTTCAGCAGTGAGGACCAGGACAGCATCTTCCGCATCCTGGCCTCCATCCTGCACCTGGGCAACGTCTACTTTGAGAAGTATGAGGTGAGGGGACGCCACAGCCTGCCATGGGGCCCGCACCCTCTGGACTTGGCCGTCTTTTCCAAGGCCTTCTCTGTTTCCCTTTCAGATTACACTATGCACATATCACTTGTTCCTGTTTTTTTCTTTTTTCCTTTGGGGTTGTTCATCTTTTTCCTCCTTATATATATTAAGGAAATCAGCCCTT 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GCAGTATTTCCTGGACTAAATGGGACAGATGGAGGGAACTGGCCCCATCCCCAAAATTACAGGTATTGTTTCTGTGGTGACTGGACCTCCTTTGCTTCTTCCCTAAAAGATTATCCTGAGGAAGTGCCTCAGCTGAAGAAAGTGCCACGTACACACTAGGCCCATGCTCATCACTCGAGTGGACTCTGGAGTCCCTGGGCATGTCATTTCACCTCTCTAAGCTTCAGTTTCCTAATCTGCAAAACAGGGGTGATATTAGTACCTACCTCATGGGATTGTTAACAACGGCATTATCAGGGCAATGTGTCTGGCACACAGTAGGTGCTTAAATAGGTGGGAGCTTGTGATCAGCCATGGTCACCCCTGGGCAGCTCTGCCCGTGAGATGGTATTCCTTTTGTTTTTTGTTTTTGTTTTTGTTTTTTTTTAGACAGTCTCACTCTGTCACCAGGCTGGAGTGCAGTGGTGCCATCTTGGCTCACTGCAATGTCTGCCTCCCAGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACGACCACGCCCGGCTAATTTTTTGTATTTTTAGTACAGACAGTGTTTCACCATGTTGGTCAGGATAGTCTGGATCTCCGGGCCTCGTGATCTGCCCACCTCGGCCTCCCAAACTCCTGAAATTACAGGCGTGAGCCACCATGCCCAGCCGATGCTATTCCTTTTTCCATCCCTTTAGCAGATATTTTTGAGAGCCTATTAAGCACCAGGTCTGTGTAGACGCTGGGGACTCAGAGATGTGCAAACAGTAGATCCGTGCCTGTAGGATTTGACATTCTAGTGGGGAGACAGACAATAATACCCAAGAAAATAGAGAGTTTGCCAATGGGGCTGAGGGCTACTGGAGAGAGAATTCTGGTGGCCTTCCTGTGAGAGGTAAGGGGTTGGGGGGTGGGGCATGCAGGTGCGTGGGAGCAGTGACTTCCAAGCAGAGGGAACAGGAGATGCCAATGGTCAGAGGCAGGAGTGGGCCTGGGTGTCAGGGAACAGTGAGGAAGGCCAGGGAGGATCCTTGGCTGGTGGTAGCCATGGGGGTGGGGAGAAGAGGACATCCCCAGAGCTGTTTGGAAGGCAAACTCAGCATATTTTCATACCTTGGAGACCCCATGGCAGTCCCCAAGCCTGGACCCCTGGGGTCTCTGAGCCTCACAGGTTTTTACTAGTCCCTCCCTGGTCTGAGGCTCCTAGTCTCCTGGAGAGAGTGGTGGTCGGTCCTGCTAGTGACTCCATTCTGTTCTTGTCTGTCTCTTTGTCCTCCCTCCTGGACGCTCTTGAAGATAAAGGTACTCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCCAGGAAAATGCGTGTGGATGTGCCTGCTCCTGTGTGGGTGGAGGGACAGGCAGGAAAGGACATCCAAAGGCCTGTCCTAGGCAGGGCTGGGGCTTGTGGTCAGGGGCTGCTGTGGGGGGCCATGGAGGCTGGAATGGGGAAGCATGGGGCTTGCTGTGTGGGAGTTGGGCAGCATGGGGTGGGAAACACTGGGGGGCACTGGAGAGACCTCAGGATTCTCTAGGGAGCCCACCTCTGGTCATCTCTCATAAAGGGAGGTCCTTGGGAAGGCTCATGTCTGGGTGTCCCCAGCTATGCCCCCCACCCAGGCCCCCAGAACAGTGCCTAGCCCCTCAATTCCCACATCTCCTTCTGGAGTCCAGATCCTGGAGGCAACACCCCTCTTGGAGTCCTTCGGTAATGCCAAAACCGTCAGGAACGACAACTCCAGCCGCTTTGGGAAGTTTGTGGAAATCTTTCTGGAAGGGTGAGTTGGGACAGTGGAGGGCCTCCCAAAAGCCTTGCAGTGTCTTCCATGTCCTGCCACAGCCCCTCGGAGCCAACACCAGCCCTCCTACCCTCACTGAGAGCTGACTGTGCTCCCCACCCCAGGGGCGTGATCTCTGGTGCCATAACCTCCCAGTACCTGCTTGAGAAATCCAGGATCATGTTTCAGGTGGGCCACCCCCTCCCAGGCCTCTGTGTTGGGCAGGGTCGGGGTGGGAGGTACAGATACTCAGAGCCTGGCCCCTGGTAGGGCTAGGTAGACGTCAAATTAATGAACGAATACATGCGTACATGTGTACATGTGAGCCCAGGACCTCCCCTCCCCGACCCTCCTCCAGCCACGGTGGCTCCTCCCTGCCCCGCAGCACACAGGCACGCTCCTGCCAGGGCCTTTGCACCTTCTGTTCCTTCCCTCAGGAGCACTTATCCTTCAGGCACCTGCTTGGCCAAACCCCTCACCTCCTCCAAGTCTCCCCTACAATTTCACCCACTCAGGAAGCTCCCCATTTAAAAACGCAGCCCCTCTCCATCCCATCAGAGCCCCTACCCCGTCCACTGCTTTATTTCTCTCCAGTGTACTTTTCCCTGTCTCATATATTTTATGTTTTAAGCAGTTATTTGCTGAGTGTCTGTCTCCCTAGCTAGCAGGTGGGCTCCATCAGGTCAGGGGCTTCTCTCTACGTTGTTCCCCACTATGTCCCAAGGGCCTAGGACAGGGCTTGGTGCACAGGAAGTGCTCAGCCATCAAGAAGCTCTGTGTGTGCACATGTGGGCTATGGACACACATGTATGCAGGTGTGTGTGGCCGGTACACATAAGAGAAGACGGGTCCCTTTTCTCTTATTTCTCCTAACCAAATAAAATCCCACCAGAACCCTCTCAAACTTCAATCATACCAGGGCACCTCTGCTTCTGCCCTCACCCGCAGCTGGCACCAGGCTGGGAGCCTCACCCATCACAGAGGCGCGTGTTCTCATCTGCAGCCCACTGTGTGCATGTGCACTTGTGGGCAGGCTTGGGCTTGTATGTGTGCCTGGGGGTCACCTAGGTAGGTGGCTCCCTTCTCTGTGCCCACCTACCCACTCTACAGGCCAAAAACGAGAGGAATTACCACATCTTCTACGAGTTGCTGGCCGGGTTGCCTGCCCAGCTCAGGCAGGCCTTTAGCCTGCAAGAGGCTGAGACCTACTACTATCTGAACCAGGTGAGTGCCAGCAGGCATCTGAAGGCCCCTGGCCCTGGTCCTCCCACCCCGACGCCCCTGGCTGGGCCTTGGGAGCCGAGTTGTGAGTGATGGAGTGTGAAGGTGAAGGAGATTTGGGGAGGGTGAGTTTGGATTTAAGACATCTCATGGCAGTGAGGGGGACCAGGAGTCTTCTGGGTCCAAAGCGGAAGCAGGAAAGGCCTACCTGACTTCATTTCTCTGGAACCTGGAACAGAACCAACCAGTCTAGAGTTTCTACACTTCCCCTCTCTGTGCCTCAGTTTCCTCACCTGTAAAATGGGGACAACATAGTACCACTTTGCAGGGATGTAGTGAGGCTTAGATGAGGAAACGCATGTAAAGAGCTTAGCACAGGGCCTGGCATGCAGTACATGCTCAGTAAACACTTGCTACTCTTTTCATTACTATCACTGGGCAGCTGCAAAGGTCAACAGGTGACAACCCCTGCCACACATTGCACTTAGAATCTATGAACTCCGTCCTCAGCCGTGCTCAGAGCCTCCGTGCCCATGAGAGTGAAATGACAGCTTGAGTGACCAACTCAGGCCACCACACTACTGGTCAGGGCAGAGCAGGACCTGGAGGGCTCCCCAGCCCCACCCAAGCTCCCTGACCCTCAGCCTCTGCCCTCATGCAGGGTGGGAACTGTGAGATAGCAGGAAAGAGCGATGCAGATGACTTTCGCCGGCTCCTGGCTGCCATGGAGGTGTTGGGCTTCAGCAGTGAGGACCAGGACAGCATCTTCCGCATCCTGGCCTCCATCCTGCACCTGGGCAACGTCTACTTTGAGAAGTATGAGGTGAGGGGACGCCACAGCCTGCCATGGGGCCCGCACCCTCTGGACTTGGCCGTCTTTTCCAAGGCCTTCTCTGTTTCCCTTTCAGATTACACTATGCACATATCACTTGTTCCTGTTTTTTTCTTTTTTCCTTTGGGGTTGTTCATCTTTTTCCTCCTTATATATATTAAGGAAATCAGCCCTT 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Task1_train_23853 | The gene MYO15A (myosin XVA) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 3 | CACCCAGGCCCCCAGAACAGTGCCTAGCCCCTCAATTCCCACATCTCCTTCTGGAGTCCAGATCCTGGAGGCAACACCCCTCTTGGAGTCCTTCGGTAATGCCAAAACCGTCAGGAACGACAACTCCAGCCGCTTTGGGAAGTTTGTGGAAATCTTTCTGGAAGGGTGAGTTGGGACAGTGGAGGGCCTCCCAAAAGCCTTGCAGTGTCTTCCATGTCCTGCCACAGCCCCTCGGAGCCAACACCAGCCCTCCTACCCTCACTGAGAGCTGACTGTGCTCCCCACCCCAGGGGCGTGATCTCTGGTGCCATAACCTCCCAGTACCTGCTTGAGAAATCCAGGATCGTGTTTCAGGTGGGCCACCCCCTCCCAGGCCTCTGTGTTGGGCAGGGTCGGGGTGGGAGGTACAGATACTCAGAGCCTGGCCCCTGGTAGGGCTAGGTAGACGTCAAATTAATGAACGAATACATGCGTACATGTGTACATGTGAGCCCAGGACCTCCCCTCCCCGACCCTCCTCCAGCCACGGTGGCTCCTCCCTGCCCCGCAGCACACAGGCACGCTCCTGCCAGGGCCTTTGCACCTTCTGTTCCTTCCCTCAGGAGCACTTATCCTTCAGGCACCTGCTTGGCCAAACCCCTCACCTCCTCCAAGTCTCCCCTACAATTTCACCCACTCAGGAAGCTCCCCATTTAAAAACGCAGCCCCTCTCCATCCCATCAGAGCCCCTACCCCGTCCACTGCTTTATTTCTCTCCAGTGTACTTTTCCCTGTCTCATATATTTTATGTTTTAAGCAGTTATTTGCTGAGTGTCTGTCTCCCTAGCTAGCAGGTGGGCTCCATCAGGTCAGGGGCTTCTCTCTACGTTGTTCCCCACTATGTCCCAAGGGCCTAGGACAGGGCTTGGTGCACAGGAAGTGCTCAGCCATCAAGAAGCTCTGTGTGTGCACATGTGGGCTATGGACACACATGTATGCAGGTGTGTGTGGCCGGTACACATAAGAGAAGACGGGTCCCTTTTCTCTTATTTCTCCTAACCAAATAAAATCCCACCAGAACCCTCTCAAACTTCAATCATACCAGGGCACCTCTGCTTCTGCCCTCACCCGCAGCTGGCACCAGGCTGGGAGCCTCACCCATCACAGAGGCGCGTGTTCTCATCTGCAGCCCACTGTGTGCATGTGCACTTGTGGGCAGGCTTGGGCTTGTATGTGTGCCTGGGGGTCACCTAGGTAGGTGGCTCCCTTCTCTGTGCCCACCTACCCACTCTACAGGCCAAAAACGAGAGGAATTACCACATCTTCTACGAGTTGCTGGCCGGGTTGCCTGCCCAGCTCAGGCAGGCCTTTAGCCTGCAAGAGGCTGAGACCTACTACTATCTGAACCAGGTGAGTGCCAGCAGGCATCTGAAGGCCCCTGGCCCTGGTCCTCCCACCCCGACGCCCCTGGCTGGGCCTTGGGAGCCGAGTTGTGAGTGATGGAGTGTGAAGGTGAAGGAGATTTGGGGAGGGTGAGTTTGGATTTAAGACATCTCATGGCAGTGAGGGGGACCAGGAGTCTTCTGGGTCCAAAGCGGAAGCAGGAAAGGCCTACCTGACTTCATTTCTCTGGAACCTGGAACAGAACCAACCAGTCTAGAGTTTCTACACTTCCCCTCTCTGTGCCTCAGTTTCCTCACCTGTAAAATGGGGACAACATAGTACCACTTTGCAGGGATGTAGTGAGGCTTAGATGAGGAAACGCATGTAAAGAGCTTAGCACAGGGCCTGGCATGCAGTACATGCTCAGTAAACACTTGCTACTCTTTTCATTACTATCACTGGGCAGCTGCAAAGGTCAACAGGTGACAACCCCTGCCACACATTGCACTTAGAATCTATGAACTCCGTCCTCAGCCGTGCTCAGAGCCTCCGTGCCCATGAGAGTGAAATGACAGCTTGAGTGACCAACTCAGGCCACCACACTACTGGTCAGGGCAGAGCAGGACCTGGAGGGCTCCCCAGCCCCACCCAAGCTCCCTGACCCTCAGCCTCTGCCCTCATGCAGGGTGGGAACTGTGAGATAGCAGGAAAGAGCGATGCAGATGACTTTCGCCGGCTCCTGGCTGCCATGGAGGTGTTGGGCTTCAGCAGTGAGGACCAGGACAGCATCTTCCGCATCCTGGCCTCCATCCTGCACCTGGGCAACGTCTACTTTGAGAAGTATGAGGTGAGGGGACGCCACAGCCTGCCATGGGGCCCGCACCCTCTGGACTTGGCCGTCTTTTCCAAGGCCTTCTCTGTTTCCCTTTCAGATTACACTATGCACATATCACTTGTTCCTGTTTTTTTCTTTTTTCCTTTGGGGTTGTTCATCTTTTTCCTCCTTATATATATTAAGGAAATCAGCCCTTTGTGTCTGATATGAATTGCAAATATATATTCCAGTTTGTCATTTATGTTTTAACTTTGTTTACAATGTTTTTTGGTGGGTTTTTATTGGCGGGGAGGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCGCAGTCTTGGCTCACTCCTGTTGGCTCACTGCAACCACCGCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCGACTGCCTGGGATTACAGGCACACACCACTACCGCCCCACTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCACCGGCCTCGGCCTCCCAAAATGCTGGGATTATAGGCATGAGCCACCGCGCCCAGCCCTTTGGTGTTTATTTTATTTTATTTTATTTTTATTTATTTATTTTTTCTTTGAGATGGAGTCTCGCCCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCCCCTGCCTCAACCTCCTGAGTAGCTGGGACTACAGGTGTGTGCCACCACATCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTGGCCAGGATGGTCTCGCTCTCTTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGCCGTGAGCCACCGTGCCCCGGCCTGTTGGGTTTTTTATGCAAATTGTTTTAAAATTATTTTTAGATAGTTCATTTATCAATATTTTCTAGTACATTTAAATTTTATATTTGAAATTTTAAACTTTTTCATTTTTGGAGAAACTTCCTAAAATTGTAACAGCCTTCTTCCATAACTTTTTCTAAGACCTTTTATGGATTTTGTGAGTTTTAAAAAACACTTAAATCTTTGATCCATCCAAATTTATCCCAGTAAGGTGTGACGTAGGAATCCAACTTTTTTCCCAGGTGGTTACTCAATTGTCCTAATCTCTTGATTTGAAAAATACATCTTTATTAGCTGGGTATGGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGGCAGGTGGATTGCTCGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGCAAGACCTCATCTCTACAAAAAAAAATTATTTTTAAAAAAGAAAGAAAAATACATCTTTGTCATGTGCTAAGTTTATATATACATTTATGTCTAATTCCAGACGTTCTATTGTGCTTTGTTAATCTATTTATGTACTGTGTCTATGACTACACTGGTTTTTTTCTTTTAATCGGCTTTTTTTTCTTTTTATTTTTTGAGACAGGGTCTCACTTTATGGCTCAGGCTGGAGTACAGTGGCACTTTCATAGCTCACTGCAGCCTCAACCTCCTAGGCCCAAGCAATCCTCCTGCCTCAGCTCCTGAGTAGCTGGGACTACAGGTCTAGGTCCCATGCCCAGCACATTTTTTAGACAGGGTCTCACTATGTTGCCAGGCTGGTCTTGAACTCCCTGCCTCATTCGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCGTGCCCAGCCTGTTTCTGTTTTTTATTTTTTCGAGACGGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGTAATGGTGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAAC 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CACCCAGGCCCCCAGAACAGTGCCTAGCCCCTCAATTCCCACATCTCCTTCTGGAGTCCAGATCCTGGAGGCAACACCCCTCTTGGAGTCCTTCGGTAATGCCAAAACCGTCAGGAACGACAACTCCAGCCGCTTTGGGAAGTTTGTGGAAATCTTTCTGGAAGGGTGAGTTGGGACAGTGGAGGGCCTCCCAAAAGCCTTGCAGTGTCTTCCATGTCCTGCCACAGCCCCTCGGAGCCAACACCAGCCCTCCTACCCTCACTGAGAGCTGACTGTGCTCCCCACCCCAGGGGCGTGATCTCTGGTGCCATAACCTCCCAGTACCTGCTTGAGAAATCCAGGATCGTGTTTCAGGTGGGCCACCCCCTCCCAGGCCTCTGTGTTGGGCAGGGTCGGGGTGGGAGGTACAGATACTCAGAGCCTGGCCCCTGGTAGGGCTAGGTAGACGTCAAATTAATGAACGAATACATGCGTACATGTGTACATGTGAGCCCAGGACCTCCCCTCCCCGACCCTCCTCCAGCCACGGTGGCTCCTCCCTGCCCCGCAGCACACAGGCACGCTCCTGCCAGGGCCTTTGCACCTTCTGTTCCTTCCCTCAGGAGCACTTATCCTTCAGGCACCTGCTTGGCCAAACCCCTCACCTCCTCCAAGTCTCCCCTACAATTTCACCCACTCAGGAAGCTCCCCATTTAAAAACGCAGCCCCTCTCCATCCCATCAGAGCCCCTACCCCGTCCACTGCTTTATTTCTCTCCAGTGTACTTTTCCCTGTCTCATATATTTTATGTTTTAAGCAGTTATTTGCTGAGTGTCTGTCTCCCTAGCTAGCAGGTGGGCTCCATCAGGTCAGGGGCTTCTCTCTACGTTGTTCCCCACTATGTCCCAAGGGCCTAGGACAGGGCTTGGTGCACAGGAAGTGCTCAGCCATCAAGAAGCTCTGTGTGTGCACATGTGGGCTATGGACACACATGTATGCAGGTGTGTGTGGCCGGTACACATAAGAGAAGACGGGTCCCTTTTCTCTTATTTCTCCTAACCAAATAAAATCCCACCAGAACCCTCTCAAACTTCAATCATACCAGGGCACCTCTGCTTCTGCCCTCACCCGCAGCTGGCACCAGGCTGGGAGCCTCACCCATCACAGAGGCGCGTGTTCTCATCTGCAGCCCACTGTGTGCATGTGCACTTGTGGGCAGGCTTGGGCTTGTATGTGTGCCTGGGGGTCACCTAGGTAGGTGGCTCCCTTCTCTGTGCCCACCTACCCACTCTACAGGCCAAAAACGAGAGGAATTACCACATCTTCTACGAGTTGCTGGCCGGGTTGCCTGCCCAGCTCAGGCAGGCCTTTAGCCTGCAAGAGGCTGAGACCTACTACTATCTGAACCAGGTGAGTGCCAGCAGGCATCTGAAGGCCCCTGGCCCTGGTCCTCCCACCCCGACGCCCCTGGCTGGGCCTTGGGAGCCGAGTTGTGAGTGATGGAGTGTGAAGGTGAAGGAGATTTGGGGAGGGTGAGTTTGGATTTAAGACATCTCATGGCAGTGAGGGGGACCAGGAGTCTTCTGGGTCCAAAGCGGAAGCAGGAAAGGCCTACCTGACTTCATTTCTCTGGAACCTGGAACAGAACCAACCAGTCTAGAGTTTCTACACTTCCCCTCTCTGTGCCTCAGTTTCCTCACCTGTAAAATGGGGACAACATAGTACCACTTTGCAGGGATGTAGTGAGGCTTAGATGAGGAAACGCATGTAAAGAGCTTAGCACAGGGCCTGGCATGCAGTACATGCTCAGTAAACACTTGCTACTCTTTTCATTACTATCACTGGGCAGCTGCAAAGGTCAACAGGTGACAACCCCTGCCACACATTGCACTTAGAATCTATGAACTCCGTCCTCAGCCGTGCTCAGAGCCTCCGTGCCCATGAGAGTGAAATGACAGCTTGAGTGACCAACTCAGGCCACCACACTACTGGTCAGGGCAGAGCAGGACCTGGAGGGCTCCCCAGCCCCACCCAAGCTCCCTGACCCTCAGCCTCTGCCCTCATGCAGGTTGGGAACTGTGAGATAGCAGGAAAGAGCGATGCAGATGACTTTCGCCGGCTCCTGGCTGCCATGGAGGTGTTGGGCTTCAGCAGTGAGGACCAGGACAGCATCTTCCGCATCCTGGCCTCCATCCTGCACCTGGGCAACGTCTACTTTGAGAAGTATGAGGTGAGGGGACGCCACAGCCTGCCATGGGGCCCGCACCCTCTGGACTTGGCCGTCTTTTCCAAGGCCTTCTCTGTTTCCCTTTCAGATTACACTATGCACATATCACTTGTTCCTGTTTTTTTCTTTTTTCCTTTGGGGTTGTTCATCTTTTTCCTCCTTATATATATTAAGGAAATCAGCCCTTTGTGTCTGATATGAATTGCAAATATATATTCCAGTTTGTCATTTATGTTTTAACTTTGTTTACAATGTTTTTTGGTGGGTTTTTATTGGCGGGGAGGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCGCAGTCTTGGCTCACTCCTGTTGGCTCACTGCAACCACCGCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCGACTGCCTGGGATTACAGGCACACACCACTACCGCCCCACTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCACCGGCCTCGGCCTCCCAAAATGCTGGGATTATAGGCATGAGCCACCGCGCCCAGCCCTTTGGTGTTTATTTTATTTTATTTTATTTTTATTTATTTATTTTTTCTTTGAGATGGAGTCTCGCCCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCCCCTGCCTCAACCTCCTGAGTAGCTGGGACTACAGGTGTGTGCCACCACATCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTGGCCAGGATGGTCTCGCTCTCTTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGCCGTGAGCCACCGTGCCCCGGCCTGTTGGGTTTTTTATGCAAATTGTTTTAAAATTATTTTTAGATAGTTCATTTATCAATATTTTCTAGTACATTTAAATTTTATATTTGAAATTTTAAACTTTTTCATTTTTGGAGAAACTTCCTAAAATTGTAACAGCCTTCTTCCATAACTTTTTCTAAGACCTTTTATGGATTTTGTGAGTTTTAAAAAACACTTAAATCTTTGATCCATCCAAATTTATCCCAGTAAGGTGTGACGTAGGAATCCAACTTTTTTCCCAGGTGGTTACTCAATTGTCCTAATCTCTTGATTTGAAAAATACATCTTTATTAGCTGGGTATGGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGGCAGGTGGATTGCTCGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGCAAGACCTCATCTCTACAAAAAAAAATTATTTTTAAAAAAGAAAGAAAAATACATCTTTGTCATGTGCTAAGTTTATATATACATTTATGTCTAATTCCAGACGTTCTATTGTGCTTTGTTAATCTATTTATGTACTGTGTCTATGACTACACTGGTTTTTTTCTTTTAATCGGCTTTTTTTTCTTTTTATTTTTTGAGACAGGGTCTCACTTTATGGCTCAGGCTGGAGTACAGTGGCACTTTCATAGCTCACTGCAGCCTCAACCTCCTAGGCCCAAGCAATCCTCCTGCCTCAGCTCCTGAGTAGCTGGGACTACAGGTCTAGGTCCCATGCCCAGCACATTTTTTAGACAGGGTCTCACTATGTTGCCAGGCTGGTCTTGAACTCCCTGCCTCATTCGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCGTGCCCAGCCTGTTTCTGTTTTTTATTTTTTCGAGACGGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGTAATGGTGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAAC 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Task1_train_23854 | This genomic variant is located on Chromosome 17, within the MYO15A (myosin XVA) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 3 | ACAACTCCAGCCGCTTTGGGAAGTTTGTGGAAATCTTTCTGGAAGGGTGAGTTGGGACAGTGGAGGGCCTCCCAAAAGCCTTGCAGTGTCTTCCATGTCCTGCCACAGCCCCTCGGAGCCAACACCAGCCCTCCTACCCTCACTGAGAGCTGACTGTGCTCCCCACCCCAGGGGCGTGATCTCTGGTGCCATAACCTCCCAGTACCTGCTTGAGAAATCCAGGATCGTGTTTCAGGTGGGCCACCCCCTCCCAGGCCTCTGTGTTGGGCAGGGTCGGGGTGGGAGGTACAGATACTCAGAGCCTGGCCCCTGGTAGGGCTAGGTAGACGTCAAATTAATGAACGAATACATGCGTACATGTGTACATGTGAGCCCAGGACCTCCCCTCCCCGACCCTCCTCCAGCCACGGTGGCTCCTCCCTGCCCCGCAGCACACAGGCACGCTCCTGCCAGGGCCTTTGCACCTTCTGTTCCTTCCCTCAGGAGCACTTATCCTTCAGGCACCTGCTTGGCCAAACCCCTCACCTCCTCCAAGTCTCCCCTACAATTTCACCCACTCAGGAAGCTCCCCATTTAAAAACGCAGCCCCTCTCCATCCCATCAGAGCCCCTACCCCGTCCACTGCTTTATTTCTCTCCAGTGTACTTTTCCCTGTCTCATATATTTTATGTTTTAAGCAGTTATTTGCTGAGTGTCTGTCTCCCTAGCTAGCAGGTGGGCTCCATCAGGTCAGGGGCTTCTCTCTACGTTGTTCCCCACTATGTCCCAAGGGCCTAGGACAGGGCTTGGTGCACAGGAAGTGCTCAGCCATCAAGAAGCTCTGTGTGTGCACATGTGGGCTATGGACACACATGTATGCAGGTGTGTGTGGCCGGTACACATAAGAGAAGACGGGTCCCTTTTCTCTTATTTCTCCTAACCAAATAAAATCCCACCAGAACCCTCTCAAACTTCAATCATACCAGGGCACCTCTGCTTCTGCCCTCACCCGCAGCTGGCACCAGGCTGGGAGCCTCACCCATCACAGAGGCGCGTGTTCTCATCTGCAGCCCACTGTGTGCATGTGCACTTGTGGGCAGGCTTGGGCTTGTATGTGTGCCTGGGGGTCACCTAGGTAGGTGGCTCCCTTCTCTGTGCCCACCTACCCACTCTACAGGCCAAAAACGAGAGGAATTACCACATCTTCTACGAGTTGCTGGCCGGGTTGCCTGCCCAGCTCAGGCAGGCCTTTAGCCTGCAAGAGGCTGAGACCTACTACTATCTGAACCAGGTGAGTGCCAGCAGGCATCTGAAGGCCCCTGGCCCTGGTCCTCCCACCCCGACGCCCCTGGCTGGGCCTTGGGAGCCGAGTTGTGAGTGATGGAGTGTGAAGGTGAAGGAGATTTGGGGAGGGTGAGTTTGGATTTAAGACATCTCATGGCAGTGAGGGGGACCAGGAGTCTTCTGGGTCCAAAGCGGAAGCAGGAAAGGCCTACCTGACTTCATTTCTCTGGAACCTGGAACAGAACCAACCAGTCTAGAGTTTCTACACTTCCCCTCTCTGTGCCTCAGTTTCCTCACCTGTAAAATGGGGACAACATAGTACCACTTTGCAGGGATGTAGTGAGGCTTAGATGAGGAAACGCATGTAAAGAGCTTAGCACAGGGCCTGGCATGCAGTACATGCTCAGTAAACACTTGCTACTCTTTTCATTACTATCACTGGGCAGCTGCAAAGGTCAACAGGTGACAACCCCTGCCACACATTGCACTTAGAATCTATGAACTCCGTCCTCAGCCGTGCTCAGAGCCTCCGTGCCCATGAGAGTGAAATGACAGCTTGAGTGACCAACTCAGGCCACCACACTACTGGTCAGGGCAGAGCAGGACCTGGAGGGCTCCCCAGCCCCACCCAAGCTCCCTGACCCTCAGCCTCTGCCCTCATGCAGGGTGGGAACTGTGAGATAGCAGGAAAGAGCGATGCAGATGACTTTCGCCGGCTCCTGGCTGCCATGGAGGTGTTGGGCTTCAGCAGTGAGGACCAGGACAGCATCTTCCGCATCCTGGCCTCCATCCTGCACCTGGGCAACGTCTACTTTGAGAAGTATGAGGTGAGGGGACGCCACAGCCTGCCATGGGGCCCGCACCCTCTGGACTTGGCCGTCTTTTCCAAGGCCTTCTCTGTTTCCCTTTCAGATTACACTATGCACATATCACTTGTTCCTGTTTTTTTCTTTTTTCCTTTGGGGTTGTTCATCTTTTTCCTCCTTATATATATTAAGGAAATCAGCCCTTTGTGTCTGATATGAATTGCAAATATATATTCCAGTTTGTCATTTATGTTTTAACTTTGTTTACAATGTTTTTTGGTGGGTTTTTATTGGCGGGGAGGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCGCAGTCTTGGCTCACTCCTGTTGGCTCACTGCAACCACCGCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCGACTGCCTGGGATTACAGGCACACACCACTACCGCCCCACTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCACCGGCCTCGGCCTCCCAAAATGCTGGGATTATAGGCATGAGCCACCGCGCCCAGCCCTTTGGTGTTTATTTTATTTTATTTTATTTTTATTTATTTATTTTTTCTTTGAGATGGAGTCTCGCCCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCCCCTGCCTCAACCTCCTGAGTAGCTGGGACTACAGGTGTGTGCCACCACATCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTGGCCAGGATGGTCTCGCTCTCTTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGCCGTGAGCCACCGTGCCCCGGCCTGTTGGGTTTTTTATGCAAATTGTTTTAAAATTATTTTTAGATAGTTCATTTATCAATATTTTCTAGTACATTTAAATTTTATATTTGAAATTTTAAACTTTTTCATTTTTGGAGAAACTTCCTAAAATTGTAACAGCCTTCTTCCATAACTTTTTCTAAGACCTTTTATGGATTTTGTGAGTTTTAAAAAACACTTAAATCTTTGATCCATCCAAATTTATCCCAGTAAGGTGTGACGTAGGAATCCAACTTTTTTCCCAGGTGGTTACTCAATTGTCCTAATCTCTTGATTTGAAAAATACATCTTTATTAGCTGGGTATGGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGGCAGGTGGATTGCTCGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGCAAGACCTCATCTCTACAAAAAAAAATTATTTTTAAAAAAGAAAGAAAAATACATCTTTGTCATGTGCTAAGTTTATATATACATTTATGTCTAATTCCAGACGTTCTATTGTGCTTTGTTAATCTATTTATGTACTGTGTCTATGACTACACTGGTTTTTTTCTTTTAATCGGCTTTTTTTTCTTTTTATTTTTTGAGACAGGGTCTCACTTTATGGCTCAGGCTGGAGTACAGTGGCACTTTCATAGCTCACTGCAGCCTCAACCTCCTAGGCCCAAGCAATCCTCCTGCCTCAGCTCCTGAGTAGCTGGGACTACAGGTCTAGGTCCCATGCCCAGCACATTTTTTAGACAGGGTCTCACTATGTTGCCAGGCTGGTCTTGAACTCCCTGCCTCATTCGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCGTGCCCAGCCTGTTTCTGTTTTTTATTTTTTCGAGACGGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGTAATGGTGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCACGCGTGGCTATTTTTGTTTTTTTAAGTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGA 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ACAACTCCAGCCGCTTTGGGAAGTTTGTGGAAATCTTTCTGGAAGGGTGAGTTGGGACAGTGGAGGGCCTCCCAAAAGCCTTGCAGTGTCTTCCATGTCCTGCCACAGCCCCTCGGAGCCAACACCAGCCCTCCTACCCTCACTGAGAGCTGACTGTGCTCCCCACCCCAGGGGCGTGATCTCTGGTGCCATAACCTCCCAGTACCTGCTTGAGAAATCCAGGATCGTGTTTCAGGTGGGCCACCCCCTCCCAGGCCTCTGTGTTGGGCAGGGTCGGGGTGGGAGGTACAGATACTCAGAGCCTGGCCCCTGGTAGGGCTAGGTAGACGTCAAATTAATGAACGAATACATGCGTACATGTGTACATGTGAGCCCAGGACCTCCCCTCCCCGACCCTCCTCCAGCCACGGTGGCTCCTCCCTGCCCCGCAGCACACAGGCACGCTCCTGCCAGGGCCTTTGCACCTTCTGTTCCTTCCCTCAGGAGCACTTATCCTTCAGGCACCTGCTTGGCCAAACCCCTCACCTCCTCCAAGTCTCCCCTACAATTTCACCCACTCAGGAAGCTCCCCATTTAAAAACGCAGCCCCTCTCCATCCCATCAGAGCCCCTACCCCGTCCACTGCTTTATTTCTCTCCAGTGTACTTTTCCCTGTCTCATATATTTTATGTTTTAAGCAGTTATTTGCTGAGTGTCTGTCTCCCTAGCTAGCAGGTGGGCTCCATCAGGTCAGGGGCTTCTCTCTACGTTGTTCCCCACTATGTCCCAAGGGCCTAGGACAGGGCTTGGTGCACAGGAAGTGCTCAGCCATCAAGAAGCTCTGTGTGTGCACATGTGGGCTATGGACACACATGTATGCAGGTGTGTGTGGCCGGTACACATAAGAGAAGACGGGTCCCTTTTCTCTTATTTCTCCTAACCAAATAAAATCCCACCAGAACCCTCTCAAACTTCAATCATACCAGGGCACCTCTGCTTCTGCCCTCACCCGCAGCTGGCACCAGGCTGGGAGCCTCACCCATCACAGAGGCGCGTGTTCTCATCTGCAGCCCACTGTGTGCATGTGCACTTGTGGGCAGGCTTGGGCTTGTATGTGTGCCTGGGGGTCACCTAGGTAGGTGGCTCCCTTCTCTGTGCCCACCTACCCACTCTACAGGCCAAAAACGAGAGGAATTACCACATCTTCTACGAGTTGCTGGCCGGGTTGCCTGCCCAGCTCAGGCAGGCCTTTAGCCTGCAAGAGGCTGAGACCTACTACTATCTGAACCAGGTGAGTGCCAGCAGGCATCTGAAGGCCCCTGGCCCTGGTCCTCCCACCCCGACGCCCCTGGCTGGGCCTTGGGAGCCGAGTTGTGAGTGATGGAGTGTGAAGGTGAAGGAGATTTGGGGAGGGTGAGTTTGGATTTAAGACATCTCATGGCAGTGAGGGGGACCAGGAGTCTTCTGGGTCCAAAGCGGAAGCAGGAAAGGCCTACCTGACTTCATTTCTCTGGAACCTGGAACAGAACCAACCAGTCTAGAGTTTCTACACTTCCCCTCTCTGTGCCTCAGTTTCCTCACCTGTAAAATGGGGACAACATAGTACCACTTTGCAGGGATGTAGTGAGGCTTAGATGAGGAAACGCATGTAAAGAGCTTAGCACAGGGCCTGGCATGCAGTACATGCTCAGTAAACACTTGCTACTCTTTTCATTACTATCACTGGGCAGCTGCAAAGGTCAACAGGTGACAACCCCTGCCACACATTGCACTTAGAATCTATGAACTCCGTCCTCAGCCGTGCTCAGAGCCTCCGTGCCCATGAGAGTGAAATGACAGCTTGAGTGACCAACTCAGGCCACCACACTACTGGTCAGGGCAGAGCAGGACCTGGAGGGCTCCCCAGCCCCACCCAAGCTCCCTGACCCTCAGCCTCTGCCCTCATGCAGGGTGGGAACTGTGAGATAGCAGGAAAGAGCGATGCAGATGACTTTCGCCGGCTCCTGGCTGCCATGGAGGTGTTGGGCTTCAGCAGTGAGGACCAGGACAGCATCTTCCGCATCCTGGCCCCCATCCTGCACCTGGGCAACGTCTACTTTGAGAAGTATGAGGTGAGGGGACGCCACAGCCTGCCATGGGGCCCGCACCCTCTGGACTTGGCCGTCTTTTCCAAGGCCTTCTCTGTTTCCCTTTCAGATTACACTATGCACATATCACTTGTTCCTGTTTTTTTCTTTTTTCCTTTGGGGTTGTTCATCTTTTTCCTCCTTATATATATTAAGGAAATCAGCCCTTTGTGTCTGATATGAATTGCAAATATATATTCCAGTTTGTCATTTATGTTTTAACTTTGTTTACAATGTTTTTTGGTGGGTTTTTATTGGCGGGGAGGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCGCAGTCTTGGCTCACTCCTGTTGGCTCACTGCAACCACCGCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCGACTGCCTGGGATTACAGGCACACACCACTACCGCCCCACTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCACCGGCCTCGGCCTCCCAAAATGCTGGGATTATAGGCATGAGCCACCGCGCCCAGCCCTTTGGTGTTTATTTTATTTTATTTTATTTTTATTTATTTATTTTTTCTTTGAGATGGAGTCTCGCCCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCCCCTGCCTCAACCTCCTGAGTAGCTGGGACTACAGGTGTGTGCCACCACATCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTGGCCAGGATGGTCTCGCTCTCTTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGCCGTGAGCCACCGTGCCCCGGCCTGTTGGGTTTTTTATGCAAATTGTTTTAAAATTATTTTTAGATAGTTCATTTATCAATATTTTCTAGTACATTTAAATTTTATATTTGAAATTTTAAACTTTTTCATTTTTGGAGAAACTTCCTAAAATTGTAACAGCCTTCTTCCATAACTTTTTCTAAGACCTTTTATGGATTTTGTGAGTTTTAAAAAACACTTAAATCTTTGATCCATCCAAATTTATCCCAGTAAGGTGTGACGTAGGAATCCAACTTTTTTCCCAGGTGGTTACTCAATTGTCCTAATCTCTTGATTTGAAAAATACATCTTTATTAGCTGGGTATGGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGGCAGGTGGATTGCTCGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGCAAGACCTCATCTCTACAAAAAAAAATTATTTTTAAAAAAGAAAGAAAAATACATCTTTGTCATGTGCTAAGTTTATATATACATTTATGTCTAATTCCAGACGTTCTATTGTGCTTTGTTAATCTATTTATGTACTGTGTCTATGACTACACTGGTTTTTTTCTTTTAATCGGCTTTTTTTTCTTTTTATTTTTTGAGACAGGGTCTCACTTTATGGCTCAGGCTGGAGTACAGTGGCACTTTCATAGCTCACTGCAGCCTCAACCTCCTAGGCCCAAGCAATCCTCCTGCCTCAGCTCCTGAGTAGCTGGGACTACAGGTCTAGGTCCCATGCCCAGCACATTTTTTAGACAGGGTCTCACTATGTTGCCAGGCTGGTCTTGAACTCCCTGCCTCATTCGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCGTGCCCAGCCTGTTTCTGTTTTTTATTTTTTCGAGACGGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGTAATGGTGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCACGCGTGGCTATTTTTGTTTTTTTAAGTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGA 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Task1_train_23855 | This gene mutation involves MYO15A (myosin XVA) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 3 | TCTCCATGTTGGTCAGGTTGGTCTCGAACTCCTGGCCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGACTACTGGCATGAGCCACAGTGCCCGGCCCTGTTTTTCATATGAACTTTAAATTTAGCCTATCTAGTTCAAAGCACATTCCTGTTGGTATTTTGCATAGACGGATGCACAGGAGGTGGCCTCAGTGGTGAGTGCCCGAGAGATCCAGGCCGTGGCAGAGCTGCTGCAGATCTCCCCTGAGGGCCTGCAGAAGGCCATCACCTTCAAAGTGACCGTGAGTCTGTGGGCATCTGGCCTTCGAACAAAGCTTTCTACCAGGGCCTGGACAGAGCTGCTTGTGCCGATCCTTTGTGGGCAGCCTCTCCCTCTCTCCTGCTCTCTCTGTCCCTGGGTCAGGCATGGAGGGGAGTAATTTCAGACCCCAGAGACATTTCAGATTCCAGTCTCAGACTGTTGCATAGGCTGTTTCCTCTACCCGGAATGCTCTTCCTCTTTTCACACCTACTCATCCTTTAAGACCCTATCCAGGTATCCCCTCCTCTAAGAAGCCTTCCCTAATCTTTGGACGGGTCAGTGCCTCCTCTGGTCTTTCACAGTCCTAGGCCCATTCTCCCTTCCCAGGGTTGATCTCATTGTATCTGCTGATGCCTCTGTCTCCCCCATTAGACCTGCAGTCCCCACTACTACCAGCATTTCCAGGCAGAGTCAGAGTGGGGGCAGGGGTGGTCCTGCCTAGTCTCTGTGTGCACAGTCACAACATCCCTCCAGCCTCCCTTCTCCATGATCCCACTCCCTTAGTCCCCTGGGGGCTTTCCGGAGGCAGAGTGGCCAGCCTGATGTCACTCAAGGGCTGTGCCCGTCCCTAGGAGACAATGCGAGAGAAGATCTTCACGCCCCTAACTGTGGAGAGCGCTGTGGATGCCAGGTGAGGCCACGCCCTCCCCTGCCTGAGCCCCGAGGCCCAGCACCCCACCACGGTGTCCTGCTCACACCAGCACCACCTCTGCTCCAGGGACGCCATCGCCAAGGTCTTGTATGCACTGCTGTTCAGCTGGCTCATCACCAGGGTCAACGCGCTGGTGTCCCCAAGGCAGGACACACTGTCCATCGCCATCCTGGACATCTATGGTTTCGAGGTGGGGCCGTGTAGGAGGCTGAGGGGCGGGGGACATAGGCAAGGTCTCGCCTCCCTCAGGCGTCTCGGGCTGCCCTTCCCATCCCTTTCTGTGCCTGCAGCAGGTGCCATCCTCCCTTCATGGACCCCTCCCTGTCACCATCTCCCTTGTCTCCTTCCATTTTCTTTACTCACCACAAGTACTCCCAAGGCCTCTGGGCCAGGCCCTGTGCTGGGCAATACCAGCTGCCCAGAAAGGACCAGCCAGGGCCCTGCCCTTGGGGAGCTTCCAGGTGAGGCTGGGTGGGGAAGGCTTCCTGGATGAGGATGAGACACTCCTGAGACCCAGCAAAGGCACTGTAGGTGCAGGGAACAGAATATGCAAGGGCTGGGAGGGGTGGCGGGTCATGAGGTCTGGGACTGGACTTCGTGTGTTGGGGGGTGACTGTTTTGTGAGTGCACAGCAAAGGAAGTGGTGAGGGACAGGGCAAGATCACCATGCAGCCATCACAGGCACTCACGTGGCACCTGTTATGTGCCAGGTGCTGTTTAAAGCACTTTGTTAATTCACTTCATCCTTACAGCAACCCTATGAGGCAGGTACTGTCAGTATCCTCATTTTACAGATGGGGAAACTGAGGCATGGGGCTGTTATTCAAGGTTATGTAGCTAGAAAATGGCAGAGCCAGCATTTGAACCCAGGCAGAAGGCCCCAGAGCCTTGGCCTTCAGGCACTGCCTGTGCTGTCAGGACAGAGCCTGTCAGATTCTGTCCTGGGTGCAGCAGGAGCTGTGGAGGGTTGTGAGCTGAGGGCCTGTGGCTGAGCTCCAGCTTTTTGAAGTTGCCACCAGGGAAGGTAGGGGCAAACAGGCTGGTGGCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGAGAACCTTCAGTACCTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTGTCTTGACTGGCCAGTGGACCTCCTTGGAGACAGATGAGGATATACTGGTTGTTTAAGGGCAATTCTGACATCAGTAGACAGTAGAGGGAAAGGCATTCTAAGCTGGGGACCAGCCCATGGGAAGGCCTCTGTTCTGGAGGGAAAGGTGCTGAGGTGCTGTGCTCAGAGAGGAGTCCCCTTGGTGGGGGTCCTTCTTCTCCTCTACTGGGCTGTCCCAGGCAGAGGGAGCAGCAGGACCCTGAGTTGGCTCATGCTGCCTTATTAGGGGGTGAGCTCCCTGTTCTGGGAGGTATGCAAGCAGAGGTGCTGCTGGCCAGGCTCCTTCAGATTCAACATGGGAGGGAGGGTGGGTGGGCCCTGGACAGGGATGGGAGGTTGAGCTCCTGCTGCCCACTGCCTGCAGGAGGAGTACATCCGTGAGCAGATAGACTGGCAGGAGATCACCTTTGCTGACAACCAGCCCTGCATCAACCTCATCTCACTGAAGCCTTATGGCATCCTGCGGATCCTTGACGACCAGTGTTGCTTTCCCCAGGTGAGCCGCAGGCACTGTGTGAGCCTAGTCAGGTCACAGATCTCTCAGCCTCATGTCCTCATCCCACCCTGACTCCTTCATTCCTCTCTGCTCTGGCCTGAGTCAGGCAGTGGGGGGTTGGGACACCCGACCTACTATTCACAACCTGGGGTGATTGAGGCCAGATGGGCCGCTGTGGGTGTTCAGAAGAGAGGCTACACCAGTCTGGAAAGCCACAGAAGGTTTCCTGGAGTAGGTAACCTTGGAATTGGGCCTCAAATCCTGATTGCAAAACACAAGGGTGGAATGGCAGTGAGATCAATAGAGTGCAAAGGCAGTTGGCCTGGAGGGGAGGCAGTTAGGAGCTCACCCAGCTACACCTATCTTCAAGGGACCACTCAGGCCTCCAGTGCCTAGCTAAGGCACTCGCCTTCTGACCCAGGGAGATGGGCAGCCATGGGAAGCTGTGAGTTGTTCCTCTCTGGTGCTCAGTTGGGAGCAGTCGGGGATAGTGAGGTTGCCACCAGGCCAGGAACAGGGTGTCCAGGCCTCCTGCCCACCCACTGATCCCTAAATTGCCCCCAGGCTACAGACCACACCTTCCTACAGAAGTGCCACTACCATCATGGCGCCAACCCGCTCTATTCCAAACCCAAGATGCCGCTGCCTGAGTTCACCATCAAGCACTATGCAGGCAAGGTCACCTACCAGGTGAGCCCTAAGACAGTCGGCCTGGACGCTGGTGCTGCAGTGCTGCTAGCTGTTGGAGACACAGAAGCACAACACTGGCCCCAGACATTCACAGCCAGGTCCAATTCTGGCTCTGCTGTGCCCCAGCTCTGTGACCTTGAGCAAATTGCTTAGCCAGTCTGAGCCTCAGTTCTCTCACTTGGAAAATGGGGTAATAATAGTGCCCAACTCATGGGGCAGGTGTGAAAAATGTAGGGTGGGTTTGATAAAGAGTAGCTCATCAATAGTGACATCACTATGGTCACCCTCATCACTATTATCTGAGGCACATTCCTGCCCTGGAGGTGTCTCAGGCTAGGATTCCATGCCTCTGTCCCCATCCGGGCCTTACTTTTCTCATCTGTAGAATGGGCACAGGACAATGTCCTTCACTGAGGGTGAGGCCAAGACCCAGGTTGGTCATGAGAAGCCATGGCGAATGCTCCCCTCCCCCAGGAGTAGGGAGAATGGTGGGGGCTGGAGGGGTGGGGACCATAGAAGTGAGGAGGATCCAGTCCCTCCTAGGATAGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCG 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TCTCCATGTTGGTCAGGTTGGTCTCGAACTCCTGGCCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGACTACTGGCATGAGCCACAGTGCCCGGCCCTGTTTTTCATATGAACTTTAAATTTAGCCTATCTAGTTCAAAGCACATTCCTGTTGGTATTTTGCATAGACGGATGCACAGGAGGTGGCCTCAGTGGTGAGTGCCCGAGAGATCCAGGCCGTGGCAGAGCTGCTGCAGATCTCCCCTGAGGGCCTGCAGAAGGCCATCACCTTCAAAGTGACCGTGAGTCTGTGGGCATCTGGCCTTCGAACAAAGCTTTCTACCAGGGCCTGGACAGAGCTGCTTGTGCCGATCCTTTGTGGGCAGCCTCTCCCTCTCTCCTGCTCTCTCTGTCCCTGGGTCAGGCATGGAGGGGAGTAATTTCAGACCCCAGAGACATTTCAGATTCCAGTCTCAGACTGTTGCATAGGCTGTTTCCTCTACCCGGAATGCTCTTCCTCTTTTCACACCTACTCATCCTTTAAGACCCTATCCAGGTATCCCCTCCTCTAAGAAGCCTTCCCTAATCTTTGGACGGGTCAGTGCCTCCTCTGGTCTTTCACAGTCCTAGGCCCATTCTCCCTTCCCAGGGTTGATCTCATTGTATCTGCTGATGCCTCTGTCTCCCCCATTAGACCTGCAGTCCCCACTACTACCAGCATTTCCAGGCAGAGTCAGAGTGGGGGCAGGGGTGGTCCTGCCTAGTCTCTGTGTGCACAGTCACAACATCCCTCCAGCCTCCCTTCTCCATGATCCCACTCCCTTAGTCCCCTGGGGGCTTTCCGGAGGCAGAGTGGCCAGCCTGATGTCACTCAAGGGCTGTGCCCGTCCCTAGGAGACAATGCGAGAGAAGATCTTCACGCCCCTAACTGTGGAGAGCGCTGTGGATGCCAGGTGAGGCCACGCCCTCCCCTGCCTGAGCCCCGAGGCCCAGCACCCCACCACGGTGTCCTGCTCACACCAGCACCACCTCTGCTCCAGGGACGCCATCGCCAAGGTCTTGTATGCACTGCTGTTCAGCTGGCTCATCACCAGGGTCAACGCGCTGGTGTCCCCAAGGCAGGACACACTGTCCATCGCCATCCTGGACATCTATGGTTTCGAGGTGGGGCCGTGTAGGAGGCTGAGGGGCGGGGGACATAGGCAAGGTCTCGCCTCCCTCAGGCGTCTCGGGCTGCCCTTCCCATCCCTTTCTGTGCCTGCAGCAGGTGCCATCCTCCCTTCATGGACCCCTCCCTGTCACCATCTCCCTTGTCTCCTTCCATTTTCTTTACTCACCACAAGTACTCCCAAGGCCTCTGGGCCAGGCCCTGTGCTGGGCAATACCAGCTGCCCAGAAAGGACCAGCCAGGGCCCTGCCCTTGGGGAGCTTCCAGGTGAGGCTGGGTGGGGAAGGCTTCCTGGATGAGGATGAGACACTCCTGAGACCCAGCAAAGGCACTGTAGGTGCAGGGAACAGAATATGCAAGGGCTGGGAGGGGTGGCGGGTCATGAGGTCTGGGACTGGACTTCGTGTGTTGGGGGGTGACTGTTTTGTGAGTGCACAGCAAAGGAAGTGGTGAGGGACAGGGCAAGATCACCATGCAGCCATCACAGGCACTCACGTGGCACCTGTTATGTGCCAGGTGCTGTTTAAAGCACTTTGTTAATTCACTTCATCCTTACAGCAACCCTATGAGGCAGGTACTGTCAGTATCCTCATTTTACAGATGGGGAAACTGAGGCATGGGGCTGTTATTCAAGGTTATGTAGCTAGAAAATGGCAGAGCCAGCATTTGAACCCAGGCAGAAGGCCCCAGAGCCTTGGCCTTCAGGCACTGCCTGTGCTGTCAGGACAGAGCCTGTCAGATTCTGTCCTGGGTGCAGCAGGAGCTGTGGAGGGTTGTGAGCTGAGGGCCTGTGGCTGAGCTCCAGCTTTTTGAAGTTGCCACCAGGGAAGGTAGGGGCAAACAGGCTGGTGGCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGCACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGAGAACCTTCAGTACCTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTGTCTTGACTGGCCAGTGGACCTCCTTGGAGACAGATGAGGATATACTGGTTGTTTAAGGGCAATTCTGACATCAGTAGACAGTAGAGGGAAAGGCATTCTAAGCTGGGGACCAGCCCATGGGAAGGCCTCTGTTCTGGAGGGAAAGGTGCTGAGGTGCTGTGCTCAGAGAGGAGTCCCCTTGGTGGGGGTCCTTCTTCTCCTCTACTGGGCTGTCCCAGGCAGAGGGAGCAGCAGGACCCTGAGTTGGCTCATGCTGCCTTATTAGGGGGTGAGCTCCCTGTTCTGGGAGGTATGCAAGCAGAGGTGCTGCTGGCCAGGCTCCTTCAGATTCAACATGGGAGGGAGGGTGGGTGGGCCCTGGACAGGGATGGGAGGTTGAGCTCCTGCTGCCCACTGCCTGCAGGAGGAGTACATCCGTGAGCAGATAGACTGGCAGGAGATCACCTTTGCTGACAACCAGCCCTGCATCAACCTCATCTCACTGAAGCCTTATGGCATCCTGCGGATCCTTGACGACCAGTGTTGCTTTCCCCAGGTGAGCCGCAGGCACTGTGTGAGCCTAGTCAGGTCACAGATCTCTCAGCCTCATGTCCTCATCCCACCCTGACTCCTTCATTCCTCTCTGCTCTGGCCTGAGTCAGGCAGTGGGGGGTTGGGACACCCGACCTACTATTCACAACCTGGGGTGATTGAGGCCAGATGGGCCGCTGTGGGTGTTCAGAAGAGAGGCTACACCAGTCTGGAAAGCCACAGAAGGTTTCCTGGAGTAGGTAACCTTGGAATTGGGCCTCAAATCCTGATTGCAAAACACAAGGGTGGAATGGCAGTGAGATCAATAGAGTGCAAAGGCAGTTGGCCTGGAGGGGAGGCAGTTAGGAGCTCACCCAGCTACACCTATCTTCAAGGGACCACTCAGGCCTCCAGTGCCTAGCTAAGGCACTCGCCTTCTGACCCAGGGAGATGGGCAGCCATGGGAAGCTGTGAGTTGTTCCTCTCTGGTGCTCAGTTGGGAGCAGTCGGGGATAGTGAGGTTGCCACCAGGCCAGGAACAGGGTGTCCAGGCCTCCTGCCCACCCACTGATCCCTAAATTGCCCCCAGGCTACAGACCACACCTTCCTACAGAAGTGCCACTACCATCATGGCGCCAACCCGCTCTATTCCAAACCCAAGATGCCGCTGCCTGAGTTCACCATCAAGCACTATGCAGGCAAGGTCACCTACCAGGTGAGCCCTAAGACAGTCGGCCTGGACGCTGGTGCTGCAGTGCTGCTAGCTGTTGGAGACACAGAAGCACAACACTGGCCCCAGACATTCACAGCCAGGTCCAATTCTGGCTCTGCTGTGCCCCAGCTCTGTGACCTTGAGCAAATTGCTTAGCCAGTCTGAGCCTCAGTTCTCTCACTTGGAAAATGGGGTAATAATAGTGCCCAACTCATGGGGCAGGTGTGAAAAATGTAGGGTGGGTTTGATAAAGAGTAGCTCATCAATAGTGACATCACTATGGTCACCCTCATCACTATTATCTGAGGCACATTCCTGCCCTGGAGGTGTCTCAGGCTAGGATTCCATGCCTCTGTCCCCATCCGGGCCTTACTTTTCTCATCTGTAGAATGGGCACAGGACAATGTCCTTCACTGAGGGTGAGGCCAAGACCCAGGTTGGTCATGAGAAGCCATGGCGAATGCTCCCCTCCCCCAGGAGTAGGGAGAATGGTGGGGGCTGGAGGGGTGGGGACCATAGAAGTGAGGAGGATCCAGTCCCTCCTAGGATAGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCG 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Task1_train_23856 | This genomic variant is located on Chromosome 17, within the MYO15A (myosin XVA) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 3 | GCCCCAGCTCTGTGACCTTGAGCAAATTGCTTAGCCAGTCTGAGCCTCAGTTCTCTCACTTGGAAAATGGGGTAATAATAGTGCCCAACTCATGGGGCAGGTGTGAAAAATGTAGGGTGGGTTTGATAAAGAGTAGCTCATCAATAGTGACATCACTATGGTCACCCTCATCACTATTATCTGAGGCACATTCCTGCCCTGGAGGTGTCTCAGGCTAGGATTCCATGCCTCTGTCCCCATCCGGGCCTTACTTTTCTCATCTGTAGAATGGGCACAGGACAATGTCCTTCACTGAGGGTGAGGCCAAGACCCAGGTTGGTCATGAGAAGCCATGGCGAATGCTCCCCTCCCCCAGGAGTAGGGAGAATGGTGGGGGCTGGAGGGGTGGGGACCATAGAAGTGAGGAGGATCCAGTCCCTCCTAGGATAGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCATGTCCCCACCCCCACACCCAGCCTGCCTTCAGGCCTGGGACCGTGTTGCCACGTCCTGGCTCCGCTTAGCTTTGGCCAGACAAAGACAAGGGTGGCCTGGACACCCTGTTCCTGGCCTGTTCCCACCTAGCTTGGCTCCGCCCTAAACCTAGCGCCTCATCCTGATCCTGTCCTCTGGCTCCCCACAGCCCCAGTGGCTAGACTCTGGCCCCGCTCCCAGTTCTAACCCTGTACCCCACCAGCTGTGGCCTTGCCCTGTACTTACCCCACTCTGGGCCCCACCCCATTCCCTGGCCCATTCTTTCCTGGCTTCTTGCCAGACCTGTTCCCCCAGTCCCACCTCCTGGTGTTCTCAGTTTCTCCCACCCCACCCATAAGGCCCCGGGGAAGAGCTTGGGGGACCAACTTTGGGTTCCTTGAAGGCTTGGGGAGGCCCTGCATCCCAGCTACACTACGGCCAGCAGATGGCCCTATGACAGAGCACAGGCCTGGTAACATCACCTCCCCTATCTGGCCCTCCGCTTCCTCCTGTCAACTGGGCAACCTCCTCATGAGGTCATAGCCAGAGTTCACAACCATGTATCTAACAGGCCACCCTGGGGCCAGGCACACAGTCAGTAACTGTGTGTTCCTTAGACTGAAGGGGAAAAAGCCAGTTATGGGATGGATCCCTTGGAAGATGCTGAGCCCCACCTGTTTTGAGAAGCATGCAAGCCAGGATGACAGAGGCCTTGCAGAGAGAACAGGGGTCCAGTTAGTCTTCAGATCCCCCTGGTCCGGAGATTTACTCCTGCTCTCTCTTCCTCCTCATTTCGGTCTCCCGGACCCTGCCTGTCTGTTTTCCCTGCCCCGACCCCTGCCCAGGTGGTGGCACACCTCTTCTCCAGCCATGCCCCACAGGCTGCCCCTCAGCGCCTGGGCAAGAGCAGCTCCGTCACTCGGCTCTACAAGGCGCACACTGTGGCCGCCAAGTTCCAGCAGTCACTCCTGGATCTGGTGGAAAAGATGGAGAGGTGGGGTGGGGGGCAGGTGGGCGGAGCACCCAGCCTCATCCTTAACCCACCTCATGACCCTCAGAGGTTGAGCGCCTTCTTTTTCTGAGGCCTCATGCTGTCCTCTTCCTGCCACTGCCAGGTGCAACCCCTTGTTCATGCGTTGCCTGAAGCCCAACCACAAGAAGGTGAGTGAGAGCTGAGGCCTCTGAGAGAGCCAAATCCTCCTGCCCATGCTGTGTGACCTTGGGCAAGTGGCTTGGCCTCTCAGGACCTGCATCTGCCCAGCCTAGCACTGGGAATATTCACCATGATAATGCCTTTTGCACATGGCTGAGCCAATGTGCAGACTCCCTCTCTGGGCATCCCTACAGGAGCCAGGTCTCTTTGAGCCAGATGTGGTAATGGCACAATTACGCTATTCAGGGGTGCTGGAGACCGTGAGGATCCGCAAGGAGGGATTTCCAGTGCGCCTGCCTTTCCAGGGGTTCATCGACAGGTATCTTGGTTACGGTAGTTCCTGAGCTCTACAAATCCCTGCCCAACTCCCCATGGCCCCAGGAATACACAACCCAGGCAGTACAGGGCTTGCCATGCACAGTTGCTCAGGTTGTACACTTCACAAGGCTACCACATGCTAACTGTTAATGTGGTAGATACATTTATTGTTTTGCCTTTTTTTGTAGTTATATGTTGTATAACGTATAATATGTCTAATCAACGCTCCGCGTTATTAGAATGGTTTTAGTAGTTATAATGACAAGTTTCCAGCAGGTGGCAGTCAAGTGTCCTGTTGTACTGAAATCATCTATTATAACAATTGTCTGACACCCAGAAGTAAAGAGTCTTGAGGATGGAGTGCCTTTTTTCAGATTAGAATAAACTATTTGTGGAGCCACCACTGGGACCAGGCTTTTTGGACACCTGGCTGGGGGCAGTAACCCCATGGTCTAGCAGACACCTCGGGTAGGTCTCATAGCCCCAGACTAACTTTGGGCCCCCTACCAGGTACTGCTGTCTAGTGGCCCTCAAGCATGACCTGCCGGCTAATGGGGACATGTGTGTGTCAGTGCTGAGTCGCCTGTGCAAAGTCATGCCAAACATGTACCGTGTTGGGGTCAGCAAGGTGAGTCCTGCCCGACAGTCAGCCCTTGGAGACCCCAAGTTTGGGGGGGTCCACAACTACTGAGTCAGAAATGTCCAAGCTAGAGACTGCCATCCCAGGAGCAACCCAGATGAGCTTGGGATATGGAATGCTAACTACCTGATTCACCAGCATCCTCTCTTCAACCTCTCCAAGTCCACCCCATCCCTCCAGCCCCGCTCCAGGAGGCTGCCCTGCCTATTCTGTCTCCACGGACTTCTAGAGAGGGAGGGGCCCTTAGTCCAGCCTCCTGGCTCCTATCTGCCTCAGTGCCTTCCTCCTGTCCTTAGCTGTTCCTTAAGGAACACCTATACCAGCTGCTGGAGAGTATGCGAGAGCATGTCCTGAATCTGGCAGCCCTCACTCTGCAGCGCTGCCTCCGTGGCTTCTTCATTAAGCGGCGATTCCGCTCTCTGCGCCACAAGATCATCCTGCTGCAAAGCCGGGCCCGTGGCTACCTTGCCAGGTGAGGCACAGAAAAGGCAGGATTCCTAGGAGACCTATGGTCAGGCTCGGGAGAGGTCACGCCTGAACTTAGGTGGTGAGCTCCCTATCCCTGGAGGCATGCAAGCTGAGGGTGGAGGCCTCTGCAGGAGAATGATCAGATTCTCTGTGTCTCTGCTTTTGAATGCCCTTCCCAGCCAACCCCAGGCCCTTGTGACTGGTGGGTGGGAATCCATTCAGCCAAGAGGGGCCTTACCCTGCATTTCAGGGACCTGAGATTATAAGCTGTTGGGAAATAAATTATTCAGGCAGGTTTAATCCAGGCCTTGCTACTTAATATGCTGTGTGACCTTGGCAAAGTCACTGCCCCTCTCTGAGCTCCAGTTTCCCTTTGAGCCAAAGGACCCCAAAAGTGAGATGTGGGCACTGGCTCCCAGGCCAGGCTGGCAAGGGCCTCTCTACCTTTTGGTCACCCTGTCACCCTGTGGCCCCAATCCCTGACCTCCCCACTACCCCAACCCAGGCAACGCTATCAGCAGATGAGGAGGAGTCTGGTGAAGTTCCGGTCCCTGGTACACGCATACGTGAGCCGCCGACGCTATCTCAAGGTATAGGCCCTACCCTATCTGGGTCCAAGGGGACAGCAGAGAAGGGGAAAGGGCACTTAGCACCCAAGAGGAGACTACTGGCCTCAGGCAGTCTTGGGTTCAAATTCTGCCTCTGCCACCCACTAGCTCTTTAACTTTGGCCATTGTCTATCCTCGATTTTCCCATCTACCCCTTGGGATTGTGGAGAGGGTTAAATGAGATGTTGCATTGAAGGATTTGGCCTGGTGCTGGGTTCACAGTGGGGTCTTCGGGAATTGAGGGCCATTAGAATTTGGTGACCTGAATGTCACTGGGTATGGTTTTGCTCTTA 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GCCCCAGCTCTGTGACCTTGAGCAAATTGCTTAGCCAGTCTGAGCCTCAGTTCTCTCACTTGGAAAATGGGGTAATAATAGTGCCCAACTCATGGGGCAGGTGTGAAAAATGTAGGGTGGGTTTGATAAAGAGTAGCTCATCAATAGTGACATCACTATGGTCACCCTCATCACTATTATCTGAGGCACATTCCTGCCCTGGAGGTGTCTCAGGCTAGGATTCCATGCCTCTGTCCCCATCCGGGCCTTACTTTTCTCATCTGTAGAATGGGCACAGGACAATGTCCTTCACTGAGGGTGAGGCCAAGACCCAGGTTGGTCATGAGAAGCCATGGCGAATGCTCCCCTCCCCCAGGAGTAGGGAGAATGGTGGGGGCTGGAGGGGTGGGGACCATAGAAGTGAGGAGGATCCAGTCCCTCCTAGGATAGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCATGTCCCCACCCCCACACCCAGCCTGCCTTCAGGCCTGGGACCGTGTTGCCACGTCCTGGCTCCGCTTAGCTTTGGCCAGACAAAGACAAGGGTGGCCTGGACACCCTGTTCCTGGCCTGTTCCCACCTAGCTTGGCTCCGCCCTAAACCTAGCGCCTCATCCTGATCCTGTCCTCTGGCTCCCCACAGCCCCAGTGGCTAGACTCTGGCCCCGCTCCCAGTTCTAACCCTGTACCCCACCAGCTGTGGCCTTGCCCTGTACTTACCCCACTCTGGGCCCCACCCCATTCCCTGGCCCATTCTTTCCTGGCTTCTTGCCAGACCTGTTCCCCCAGTCCCACCTCCTGGTGTTCTCAGTTTCTCCCACCCCACCCATAAGGCCCCGGGGAAGAGCTTGGGGGACCAACTTTGGGTTCCTTGAAGGCTTGGGGAGGCCCTGCATCCCAGCTACACTACGGCCAGCAGATGGCCCTATGACAGAGCACAGGCCTGGTAACATCACCTCCCCTATCTGGCCCTCCGCTTCCTCCTGTCAACTGGGCAACCTCCTCATGAGGTCATAGCCAGAGTTCACAACCATGTATCTAACAGGCCACCCTGGGGCCAGGCACACAGTCAGTAACTGTGTGTTCCTTAGACTGAAGGGGAAAAAGCCAGTTATGGGATGGATCCCTTGGAAGATGCTGAGCCCCACCTGTTTTGAGAAGCATGCAAGCCAGGATGACAGAGGCCTTGCAGAGAGAACAGGGGTCCAGTTAGTCTTCAGATCCCCCTGGTCCGGAGATTTACTCCTGCTCTCTCTTCCTCCTCATTTCGGTCTCCCGGACCCTGCCTGTCTGTTTTCCCTGCCCCGACCCCTGCCCAGGTGGTGGCACACCTCTTCTCCAGCCATGCCCCACAGGCTGCCCCTCAGCGCCTGGGCAAGAGCAGCTCCGTCACTCGGCTCTACAAGGCGCACACTGTGGCCGCCAAGTTCCAGCAGTCACTCCTGGATCTGGTGGAAAAGATGGAGAGGTGGGGTGGGGGGCAGGTGGGCGGAGCACCCAGCCTCATCCTTAACCCACCTCATGACCCTCAGAGGTTGAGCGCCTTCTTTTTCTGAGGCCTCATGCTGTCCTCTTCCTGCCACTGCCAGGTGCAACCCCTTGTTCATGCGTTGCCTGAAGCCCAACCACAAGAAGGTGAGTGAGAGCTGAGGCCTCTGAGAGAGCCAAATCCTCCTGCCCATGCTGTGTGACCTTGGGCAAGTGGCTTGGCCTCTCAGGACCTGCATCTGCCCAGCCTAGCACTGGGAATATTCACCATGATAATGCCTTTTGCACATGGCTGAGCCAATGTGCAGACTCCCTCTCTGGGCATCCCTACAGGAGCCAGGTCTCTTTGAGCCAGATGTGGTAATGGCACAATTACGCTATTCAGGGGTGCTGGAGACCGTGAGGATCCGCAAGGAGGTATTTCCAGTGCGCCTGCCTTTCCAGGGGTTCATCGACAGGTATCTTGGTTACGGTAGTTCCTGAGCTCTACAAATCCCTGCCCAACTCCCCATGGCCCCAGGAATACACAACCCAGGCAGTACAGGGCTTGCCATGCACAGTTGCTCAGGTTGTACACTTCACAAGGCTACCACATGCTAACTGTTAATGTGGTAGATACATTTATTGTTTTGCCTTTTTTTGTAGTTATATGTTGTATAACGTATAATATGTCTAATCAACGCTCCGCGTTATTAGAATGGTTTTAGTAGTTATAATGACAAGTTTCCAGCAGGTGGCAGTCAAGTGTCCTGTTGTACTGAAATCATCTATTATAACAATTGTCTGACACCCAGAAGTAAAGAGTCTTGAGGATGGAGTGCCTTTTTTCAGATTAGAATAAACTATTTGTGGAGCCACCACTGGGACCAGGCTTTTTGGACACCTGGCTGGGGGCAGTAACCCCATGGTCTAGCAGACACCTCGGGTAGGTCTCATAGCCCCAGACTAACTTTGGGCCCCCTACCAGGTACTGCTGTCTAGTGGCCCTCAAGCATGACCTGCCGGCTAATGGGGACATGTGTGTGTCAGTGCTGAGTCGCCTGTGCAAAGTCATGCCAAACATGTACCGTGTTGGGGTCAGCAAGGTGAGTCCTGCCCGACAGTCAGCCCTTGGAGACCCCAAGTTTGGGGGGGTCCACAACTACTGAGTCAGAAATGTCCAAGCTAGAGACTGCCATCCCAGGAGCAACCCAGATGAGCTTGGGATATGGAATGCTAACTACCTGATTCACCAGCATCCTCTCTTCAACCTCTCCAAGTCCACCCCATCCCTCCAGCCCCGCTCCAGGAGGCTGCCCTGCCTATTCTGTCTCCACGGACTTCTAGAGAGGGAGGGGCCCTTAGTCCAGCCTCCTGGCTCCTATCTGCCTCAGTGCCTTCCTCCTGTCCTTAGCTGTTCCTTAAGGAACACCTATACCAGCTGCTGGAGAGTATGCGAGAGCATGTCCTGAATCTGGCAGCCCTCACTCTGCAGCGCTGCCTCCGTGGCTTCTTCATTAAGCGGCGATTCCGCTCTCTGCGCCACAAGATCATCCTGCTGCAAAGCCGGGCCCGTGGCTACCTTGCCAGGTGAGGCACAGAAAAGGCAGGATTCCTAGGAGACCTATGGTCAGGCTCGGGAGAGGTCACGCCTGAACTTAGGTGGTGAGCTCCCTATCCCTGGAGGCATGCAAGCTGAGGGTGGAGGCCTCTGCAGGAGAATGATCAGATTCTCTGTGTCTCTGCTTTTGAATGCCCTTCCCAGCCAACCCCAGGCCCTTGTGACTGGTGGGTGGGAATCCATTCAGCCAAGAGGGGCCTTACCCTGCATTTCAGGGACCTGAGATTATAAGCTGTTGGGAAATAAATTATTCAGGCAGGTTTAATCCAGGCCTTGCTACTTAATATGCTGTGTGACCTTGGCAAAGTCACTGCCCCTCTCTGAGCTCCAGTTTCCCTTTGAGCCAAAGGACCCCAAAAGTGAGATGTGGGCACTGGCTCCCAGGCCAGGCTGGCAAGGGCCTCTCTACCTTTTGGTCACCCTGTCACCCTGTGGCCCCAATCCCTGACCTCCCCACTACCCCAACCCAGGCAACGCTATCAGCAGATGAGGAGGAGTCTGGTGAAGTTCCGGTCCCTGGTACACGCATACGTGAGCCGCCGACGCTATCTCAAGGTATAGGCCCTACCCTATCTGGGTCCAAGGGGACAGCAGAGAAGGGGAAAGGGCACTTAGCACCCAAGAGGAGACTACTGGCCTCAGGCAGTCTTGGGTTCAAATTCTGCCTCTGCCACCCACTAGCTCTTTAACTTTGGCCATTGTCTATCCTCGATTTTCCCATCTACCCCTTGGGATTGTGGAGAGGGTTAAATGAGATGTTGCATTGAAGGATTTGGCCTGGTGCTGGGTTCACAGTGGGGTCTTCGGGAATTGAGGGCCATTAGAATTTGGTGACCTGAATGTCACTGGGTATGGTTTTGCTCTTA 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Task1_train_23857 | This sequence variant lies in MYO15A (myosin XVA) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 3 | GGGCAACCTCCTCATGAGGTCATAGCCAGAGTTCACAACCATGTATCTAACAGGCCACCCTGGGGCCAGGCACACAGTCAGTAACTGTGTGTTCCTTAGACTGAAGGGGAAAAAGCCAGTTATGGGATGGATCCCTTGGAAGATGCTGAGCCCCACCTGTTTTGAGAAGCATGCAAGCCAGGATGACAGAGGCCTTGCAGAGAGAACAGGGGTCCAGTTAGTCTTCAGATCCCCCTGGTCCGGAGATTTACTCCTGCTCTCTCTTCCTCCTCATTTCGGTCTCCCGGACCCTGCCTGTCTGTTTTCCCTGCCCCGACCCCTGCCCAGGTGGTGGCACACCTCTTCTCCAGCCATGCCCCACAGGCTGCCCCTCAGCGCCTGGGCAAGAGCAGCTCCGTCACTCGGCTCTACAAGGCGCACACTGTGGCCGCCAAGTTCCAGCAGTCACTCCTGGATCTGGTGGAAAAGATGGAGAGGTGGGGTGGGGGGCAGGTGGGCGGAGCACCCAGCCTCATCCTTAACCCACCTCATGACCCTCAGAGGTTGAGCGCCTTCTTTTTCTGAGGCCTCATGCTGTCCTCTTCCTGCCACTGCCAGGTGCAACCCCTTGTTCATGCGTTGCCTGAAGCCCAACCACAAGAAGGTGAGTGAGAGCTGAGGCCTCTGAGAGAGCCAAATCCTCCTGCCCATGCTGTGTGACCTTGGGCAAGTGGCTTGGCCTCTCAGGACCTGCATCTGCCCAGCCTAGCACTGGGAATATTCACCATGATAATGCCTTTTGCACATGGCTGAGCCAATGTGCAGACTCCCTCTCTGGGCATCCCTACAGGAGCCAGGTCTCTTTGAGCCAGATGTGGTAATGGCACAATTACGCTATTCAGGGGTGCTGGAGACCGTGAGGATCCGCAAGGAGGGATTTCCAGTGCGCCTGCCTTTCCAGGGGTTCATCGACAGGTATCTTGGTTACGGTAGTTCCTGAGCTCTACAAATCCCTGCCCAACTCCCCATGGCCCCAGGAATACACAACCCAGGCAGTACAGGGCTTGCCATGCACAGTTGCTCAGGTTGTACACTTCACAAGGCTACCACATGCTAACTGTTAATGTGGTAGATACATTTATTGTTTTGCCTTTTTTTGTAGTTATATGTTGTATAACGTATAATATGTCTAATCAACGCTCCGCGTTATTAGAATGGTTTTAGTAGTTATAATGACAAGTTTCCAGCAGGTGGCAGTCAAGTGTCCTGTTGTACTGAAATCATCTATTATAACAATTGTCTGACACCCAGAAGTAAAGAGTCTTGAGGATGGAGTGCCTTTTTTCAGATTAGAATAAACTATTTGTGGAGCCACCACTGGGACCAGGCTTTTTGGACACCTGGCTGGGGGCAGTAACCCCATGGTCTAGCAGACACCTCGGGTAGGTCTCATAGCCCCAGACTAACTTTGGGCCCCCTACCAGGTACTGCTGTCTAGTGGCCCTCAAGCATGACCTGCCGGCTAATGGGGACATGTGTGTGTCAGTGCTGAGTCGCCTGTGCAAAGTCATGCCAAACATGTACCGTGTTGGGGTCAGCAAGGTGAGTCCTGCCCGACAGTCAGCCCTTGGAGACCCCAAGTTTGGGGGGGTCCACAACTACTGAGTCAGAAATGTCCAAGCTAGAGACTGCCATCCCAGGAGCAACCCAGATGAGCTTGGGATATGGAATGCTAACTACCTGATTCACCAGCATCCTCTCTTCAACCTCTCCAAGTCCACCCCATCCCTCCAGCCCCGCTCCAGGAGGCTGCCCTGCCTATTCTGTCTCCACGGACTTCTAGAGAGGGAGGGGCCCTTAGTCCAGCCTCCTGGCTCCTATCTGCCTCAGTGCCTTCCTCCTGTCCTTAGCTGTTCCTTAAGGAACACCTATACCAGCTGCTGGAGAGTATGCGAGAGCATGTCCTGAATCTGGCAGCCCTCACTCTGCAGCGCTGCCTCCGTGGCTTCTTCATTAAGCGGCGATTCCGCTCTCTGCGCCACAAGATCATCCTGCTGCAAAGCCGGGCCCGTGGCTACCTTGCCAGGTGAGGCACAGAAAAGGCAGGATTCCTAGGAGACCTATGGTCAGGCTCGGGAGAGGTCACGCCTGAACTTAGGTGGTGAGCTCCCTATCCCTGGAGGCATGCAAGCTGAGGGTGGAGGCCTCTGCAGGAGAATGATCAGATTCTCTGTGTCTCTGCTTTTGAATGCCCTTCCCAGCCAACCCCAGGCCCTTGTGACTGGTGGGTGGGAATCCATTCAGCCAAGAGGGGCCTTACCCTGCATTTCAGGGACCTGAGATTATAAGCTGTTGGGAAATAAATTATTCAGGCAGGTTTAATCCAGGCCTTGCTACTTAATATGCTGTGTGACCTTGGCAAAGTCACTGCCCCTCTCTGAGCTCCAGTTTCCCTTTGAGCCAAAGGACCCCAAAAGTGAGATGTGGGCACTGGCTCCCAGGCCAGGCTGGCAAGGGCCTCTCTACCTTTTGGTCACCCTGTCACCCTGTGGCCCCAATCCCTGACCTCCCCACTACCCCAACCCAGGCAACGCTATCAGCAGATGAGGAGGAGTCTGGTGAAGTTCCGGTCCCTGGTACACGCATACGTGAGCCGCCGACGCTATCTCAAGGTATAGGCCCTACCCTATCTGGGTCCAAGGGGACAGCAGAGAAGGGGAAAGGGCACTTAGCACCCAAGAGGAGACTACTGGCCTCAGGCAGTCTTGGGTTCAAATTCTGCCTCTGCCACCCACTAGCTCTTTAACTTTGGCCATTGTCTATCCTCGATTTTCCCATCTACCCCTTGGGATTGTGGAGAGGGTTAAATGAGATGTTGCATTGAAGGATTTGGCCTGGTGCTGGGTTCACAGTGGGGTCTTCGGGAATTGAGGGCCATTAGAATTTGGTGACCTGAATGTCACTGGGTATGGTTTTGCTCTTACCTTCATGTCTTGACCCACTGTCATGCAAACTAGCCACCAGAAAGACAAATGCAGTTCCCAAAGCAATGAAGCAGTAGGTAGCCTTTACTGAAGGTGGCGCTACAGAGGAGGGCTTCCCATGACACAGTGCTCAGCCACCTCCCAGAAATCCTCCTTGTGTGTCTCTTTCCCCAGCGTTTTTCTCCCTCCGCTTGCCTCTGTTTCTCTCTTGCTCTCTCCTTTTCCCTCCCCTTTTCTCTGGCCAACCTCAGCCTCCCGCCCCACCTGTGGAGTGGGGCAGTCACCTCCACACAACAGGCAAGCTGCCCCCCTTGCTTGAGTGTGGCCGCCTTGCGTAAGCTGGCCTGGCCTGCCTGGGTGCCGGTCGTCACCTCTGCCTGCCACTCCCCAACCTGACATCTTCTCTTCTGAAGCTGAGGGCAGAGTGGAGGTGCCAGGTGGAGGGGGCGCTGCTGTGGGAGCAGGAGGTGGGTGTGGGTCTGGGTGGCAGCAGGGCCAAGGAGGGAGGCTGGCAGGTGGGGATGTGGCAGGCCTGTCCCTGTCCCATGCACTGTCCCTCTAGGAGCTGAGCAAGCGGGAGGTAGTCGCTGTGGGGCACCTGGAGGTACCGGCTGAGCTGGCTGGGCTCTTGCAAGCAGTGGCAGGTGGGTCAGCACCAGGCGGGGGGAGGGCCCAGGCAGATCAGAGCAGGCACCGCATTCCCTCCTCTTTCCACAGGCCTCGGGCTGGCCCAGGTGCCTCAGGTGGCCCCTGTGAGGACTCCTCGACTCCAGGCTGAGCCCCGTGTCACACTGCCCCTGGACATCAACAACTATCCTATGGCCAAGTTTGTCCAGTGCCACTTCAAGGTAAGGGCTAGCTGAAGTCCAAGGCTCCCTGGCTGATAGGCGCTGACCAATTAGAATGGACATTGTCCTTGCCCTGGGGCAGGCTCCTGGCTGTGCCCTGTGGTGTTGGGTATGAGCCTTTTAGTTGCTGGATCATAGGGAATCTGGGAGATCCCTGAGGTCTGGATAGCAGTGGAGAGCCCTCAGGGGCTCGGGCAGGGCTGTTTACCACCAACCAGTCTGGAAATATTTCAGAAATTGAACAACTGGTGGAGCCATAGCATGTCAGCCCAGCTCTGATTTCCT 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GGGCAACCTCCTCATGAGGTCATAGCCAGAGTTCACAACCATGTATCTAACAGGCCACCCTGGGGCCAGGCACACAGTCAGTAACTGTGTGTTCCTTAGACTGAAGGGGAAAAAGCCAGTTATGGGATGGATCCCTTGGAAGATGCTGAGCCCCACCTGTTTTGAGAAGCATGCAAGCCAGGATGACAGAGGCCTTGCAGAGAGAACAGGGGTCCAGTTAGTCTTCAGATCCCCCTGGTCCGGAGATTTACTCCTGCTCTCTCTTCCTCCTCATTTCGGTCTCCCGGACCCTGCCTGTCTGTTTTCCCTGCCCCGACCCCTGCCCAGGTGGTGGCACACCTCTTCTCCAGCCATGCCCCACAGGCTGCCCCTCAGCGCCTGGGCAAGAGCAGCTCCGTCACTCGGCTCTACAAGGCGCACACTGTGGCCGCCAAGTTCCAGCAGTCACTCCTGGATCTGGTGGAAAAGATGGAGAGGTGGGGTGGGGGGCAGGTGGGCGGAGCACCCAGCCTCATCCTTAACCCACCTCATGACCCTCAGAGGTTGAGCGCCTTCTTTTTCTGAGGCCTCATGCTGTCCTCTTCCTGCCACTGCCAGGTGCAACCCCTTGTTCATGCGTTGCCTGAAGCCCAACCACAAGAAGGTGAGTGAGAGCTGAGGCCTCTGAGAGAGCCAAATCCTCCTGCCCATGCTGTGTGACCTTGGGCAAGTGGCTTGGCCTCTCAGGACCTGCATCTGCCCAGCCTAGCACTGGGAATATTCACCATGATAATGCCTTTTGCACATGGCTGAGCCAATGTGCAGACTCCCTCTCTGGGCATCCCTACAGGAGCCAGGTCTCTTTGAGCCAGATGTGGTAATGGCACAATTACGCTATTCAGGGGTGCTGGAGACCGTGAGGATCCGCAAGGAGGGATTTCCAGTGCGCCTGCCTTTCCAGGGGTTCATCGACAGGTATCTTGGTTACGGTAGTTCCTGAGCTCTACAAATCCCTGCCCAACTCCCCATGGCCCCAGGAATACACAACCCAGGCAGTACAGGGCTTGCCATGCACAGTTGCTCAGGTTGTACACTTCACAAGGCTACCACATGCTAACTGTTAATGTGGTAGATACATTTATTGTTTTGCCTTTTTTTGTAGTTATATGTTGTATAACGTATAATATGTCTAATCAACGCTCCGCGTTATTAGAATGGTTTTAGTAGTTATAATGACAAGTTTCCAGCAGGTGGCAGTCAAGTGTCCTGTTGTACTGAAATCATCTATTATAACAATTGTCTGACACCCAGAAGTAAAGAGTCTTGAGGATGGAGTGCCTTTTTTCAGATTAGAATAAACTATTTGTGGAGCCACCACTGGGACCAGGCTTTTTGGACACCTGGCTGGGGGCAGTAACCCCATGGTCTAGCAGACACCTCGGGTAGGTCTCATAGCCCCAGACTAACTTTGGGCCCCCTACCAGGTACTGCTGTCTAGTGGCCCTCAAGCATGACCTGCCGGCTAATGGGGACATGTGTGTGTCAGTGCTGAGTCGCCTGTGCAAAGTCATGCCAAACATGTACCGTGTTGGGGTCAGCAAGGTGAGTCCTGCCCGACAGTCAGCCCTTGGAGACCCCAAGTTTGGGGGGGTCCACAACTACTGAGTCAGAAATGTCCAAGCTAGAGACTGCCATCCCAGGAGCAACCCAGATGAGCTTGGGATATGGAATGCTAACTACCTGATTCACCAGCATCCTCTCTTCAACCTCTCCAAGTCCACCCCATCCCTCCAGCCCCGCTCCAGGAGGCTGCCCTGCCTATTCTGTCTCCACGGACTTCTAGAGAGGGAGGGGCCCTTAGTCCAGCCTCCTGGCTCCTATCTGCCTCAGTGCCTTCCTCCTGTCCTTAGCTGTTCCTTAAGGAACACCTATACCAGCTGCTGGAGAGTATGCGAGAGCATGTCCTGAATCTGGCAGCCCTCACTCTGCAGCGCTGCCTCCGTGGCTTCTTCATTAAGCGGCGATTCCGCTCTCTGCGCCACAAGATCATCCTGCTGCAAAGCCGGGCCGGTGGCTACCTTGCCAGGTGAGGCACAGAAAAGGCAGGATTCCTAGGAGACCTATGGTCAGGCTCGGGAGAGGTCACGCCTGAACTTAGGTGGTGAGCTCCCTATCCCTGGAGGCATGCAAGCTGAGGGTGGAGGCCTCTGCAGGAGAATGATCAGATTCTCTGTGTCTCTGCTTTTGAATGCCCTTCCCAGCCAACCCCAGGCCCTTGTGACTGGTGGGTGGGAATCCATTCAGCCAAGAGGGGCCTTACCCTGCATTTCAGGGACCTGAGATTATAAGCTGTTGGGAAATAAATTATTCAGGCAGGTTTAATCCAGGCCTTGCTACTTAATATGCTGTGTGACCTTGGCAAAGTCACTGCCCCTCTCTGAGCTCCAGTTTCCCTTTGAGCCAAAGGACCCCAAAAGTGAGATGTGGGCACTGGCTCCCAGGCCAGGCTGGCAAGGGCCTCTCTACCTTTTGGTCACCCTGTCACCCTGTGGCCCCAATCCCTGACCTCCCCACTACCCCAACCCAGGCAACGCTATCAGCAGATGAGGAGGAGTCTGGTGAAGTTCCGGTCCCTGGTACACGCATACGTGAGCCGCCGACGCTATCTCAAGGTATAGGCCCTACCCTATCTGGGTCCAAGGGGACAGCAGAGAAGGGGAAAGGGCACTTAGCACCCAAGAGGAGACTACTGGCCTCAGGCAGTCTTGGGTTCAAATTCTGCCTCTGCCACCCACTAGCTCTTTAACTTTGGCCATTGTCTATCCTCGATTTTCCCATCTACCCCTTGGGATTGTGGAGAGGGTTAAATGAGATGTTGCATTGAAGGATTTGGCCTGGTGCTGGGTTCACAGTGGGGTCTTCGGGAATTGAGGGCCATTAGAATTTGGTGACCTGAATGTCACTGGGTATGGTTTTGCTCTTACCTTCATGTCTTGACCCACTGTCATGCAAACTAGCCACCAGAAAGACAAATGCAGTTCCCAAAGCAATGAAGCAGTAGGTAGCCTTTACTGAAGGTGGCGCTACAGAGGAGGGCTTCCCATGACACAGTGCTCAGCCACCTCCCAGAAATCCTCCTTGTGTGTCTCTTTCCCCAGCGTTTTTCTCCCTCCGCTTGCCTCTGTTTCTCTCTTGCTCTCTCCTTTTCCCTCCCCTTTTCTCTGGCCAACCTCAGCCTCCCGCCCCACCTGTGGAGTGGGGCAGTCACCTCCACACAACAGGCAAGCTGCCCCCCTTGCTTGAGTGTGGCCGCCTTGCGTAAGCTGGCCTGGCCTGCCTGGGTGCCGGTCGTCACCTCTGCCTGCCACTCCCCAACCTGACATCTTCTCTTCTGAAGCTGAGGGCAGAGTGGAGGTGCCAGGTGGAGGGGGCGCTGCTGTGGGAGCAGGAGGTGGGTGTGGGTCTGGGTGGCAGCAGGGCCAAGGAGGGAGGCTGGCAGGTGGGGATGTGGCAGGCCTGTCCCTGTCCCATGCACTGTCCCTCTAGGAGCTGAGCAAGCGGGAGGTAGTCGCTGTGGGGCACCTGGAGGTACCGGCTGAGCTGGCTGGGCTCTTGCAAGCAGTGGCAGGTGGGTCAGCACCAGGCGGGGGGAGGGCCCAGGCAGATCAGAGCAGGCACCGCATTCCCTCCTCTTTCCACAGGCCTCGGGCTGGCCCAGGTGCCTCAGGTGGCCCCTGTGAGGACTCCTCGACTCCAGGCTGAGCCCCGTGTCACACTGCCCCTGGACATCAACAACTATCCTATGGCCAAGTTTGTCCAGTGCCACTTCAAGGTAAGGGCTAGCTGAAGTCCAAGGCTCCCTGGCTGATAGGCGCTGACCAATTAGAATGGACATTGTCCTTGCCCTGGGGCAGGCTCCTGGCTGTGCCCTGTGGTGTTGGGTATGAGCCTTTTAGTTGCTGGATCATAGGGAATCTGGGAGATCCCTGAGGTCTGGATAGCAGTGGAGAGCCCTCAGGGGCTCGGGCAGGGCTGTTTACCACCAACCAGTCTGGAAATATTTCAGAAATTGAACAACTGGTGGAGCCATAGCATGTCAGCCCAGCTCTGATTTCCT 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Task1_train_23858 | Here is a mutation in MYO15A (myosin XVA) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 3 | ATGACCTGCCGGCTAATGGGGACATGTGTGTGTCAGTGCTGAGTCGCCTGTGCAAAGTCATGCCAAACATGTACCGTGTTGGGGTCAGCAAGGTGAGTCCTGCCCGACAGTCAGCCCTTGGAGACCCCAAGTTTGGGGGGGTCCACAACTACTGAGTCAGAAATGTCCAAGCTAGAGACTGCCATCCCAGGAGCAACCCAGATGAGCTTGGGATATGGAATGCTAACTACCTGATTCACCAGCATCCTCTCTTCAACCTCTCCAAGTCCACCCCATCCCTCCAGCCCCGCTCCAGGAGGCTGCCCTGCCTATTCTGTCTCCACGGACTTCTAGAGAGGGAGGGGCCCTTAGTCCAGCCTCCTGGCTCCTATCTGCCTCAGTGCCTTCCTCCTGTCCTTAGCTGTTCCTTAAGGAACACCTATACCAGCTGCTGGAGAGTATGCGAGAGCATGTCCTGAATCTGGCAGCCCTCACTCTGCAGCGCTGCCTCCGTGGCTTCTTCATTAAGCGGCGATTCCGCTCTCTGCGCCACAAGATCATCCTGCTGCAAAGCCGGGCCCGTGGCTACCTTGCCAGGTGAGGCACAGAAAAGGCAGGATTCCTAGGAGACCTATGGTCAGGCTCGGGAGAGGTCACGCCTGAACTTAGGTGGTGAGCTCCCTATCCCTGGAGGCATGCAAGCTGAGGGTGGAGGCCTCTGCAGGAGAATGATCAGATTCTCTGTGTCTCTGCTTTTGAATGCCCTTCCCAGCCAACCCCAGGCCCTTGTGACTGGTGGGTGGGAATCCATTCAGCCAAGAGGGGCCTTACCCTGCATTTCAGGGACCTGAGATTATAAGCTGTTGGGAAATAAATTATTCAGGCAGGTTTAATCCAGGCCTTGCTACTTAATATGCTGTGTGACCTTGGCAAAGTCACTGCCCCTCTCTGAGCTCCAGTTTCCCTTTGAGCCAAAGGACCCCAAAAGTGAGATGTGGGCACTGGCTCCCAGGCCAGGCTGGCAAGGGCCTCTCTACCTTTTGGTCACCCTGTCACCCTGTGGCCCCAATCCCTGACCTCCCCACTACCCCAACCCAGGCAACGCTATCAGCAGATGAGGAGGAGTCTGGTGAAGTTCCGGTCCCTGGTACACGCATACGTGAGCCGCCGACGCTATCTCAAGGTATAGGCCCTACCCTATCTGGGTCCAAGGGGACAGCAGAGAAGGGGAAAGGGCACTTAGCACCCAAGAGGAGACTACTGGCCTCAGGCAGTCTTGGGTTCAAATTCTGCCTCTGCCACCCACTAGCTCTTTAACTTTGGCCATTGTCTATCCTCGATTTTCCCATCTACCCCTTGGGATTGTGGAGAGGGTTAAATGAGATGTTGCATTGAAGGATTTGGCCTGGTGCTGGGTTCACAGTGGGGTCTTCGGGAATTGAGGGCCATTAGAATTTGGTGACCTGAATGTCACTGGGTATGGTTTTGCTCTTACCTTCATGTCTTGACCCACTGTCATGCAAACTAGCCACCAGAAAGACAAATGCAGTTCCCAAAGCAATGAAGCAGTAGGTAGCCTTTACTGAAGGTGGCGCTACAGAGGAGGGCTTCCCATGACACAGTGCTCAGCCACCTCCCAGAAATCCTCCTTGTGTGTCTCTTTCCCCAGCGTTTTTCTCCCTCCGCTTGCCTCTGTTTCTCTCTTGCTCTCTCCTTTTCCCTCCCCTTTTCTCTGGCCAACCTCAGCCTCCCGCCCCACCTGTGGAGTGGGGCAGTCACCTCCACACAACAGGCAAGCTGCCCCCCTTGCTTGAGTGTGGCCGCCTTGCGTAAGCTGGCCTGGCCTGCCTGGGTGCCGGTCGTCACCTCTGCCTGCCACTCCCCAACCTGACATCTTCTCTTCTGAAGCTGAGGGCAGAGTGGAGGTGCCAGGTGGAGGGGGCGCTGCTGTGGGAGCAGGAGGTGGGTGTGGGTCTGGGTGGCAGCAGGGCCAAGGAGGGAGGCTGGCAGGTGGGGATGTGGCAGGCCTGTCCCTGTCCCATGCACTGTCCCTCTAGGAGCTGAGCAAGCGGGAGGTAGTCGCTGTGGGGCACCTGGAGGTACCGGCTGAGCTGGCTGGGCTCTTGCAAGCAGTGGCAGGTGGGTCAGCACCAGGCGGGGGGAGGGCCCAGGCAGATCAGAGCAGGCACCGCATTCCCTCCTCTTTCCACAGGCCTCGGGCTGGCCCAGGTGCCTCAGGTGGCCCCTGTGAGGACTCCTCGACTCCAGGCTGAGCCCCGTGTCACACTGCCCCTGGACATCAACAACTATCCTATGGCCAAGTTTGTCCAGTGCCACTTCAAGGTAAGGGCTAGCTGAAGTCCAAGGCTCCCTGGCTGATAGGCGCTGACCAATTAGAATGGACATTGTCCTTGCCCTGGGGCAGGCTCCTGGCTGTGCCCTGTGGTGTTGGGTATGAGCCTTTTAGTTGCTGGATCATAGGGAATCTGGGAGATCCCTGAGGTCTGGATAGCAGTGGAGAGCCCTCAGGGGCTCGGGCAGGGCTGTTTACCACCAACCAGTCTGGAAATATTTCAGAAATTGAACAACTGGTGGAGCCATAGCATGTCAGCCCAGCTCTGATTTCCTCCCCTTGAGATGAAGGTTTATCCTGTCCCTACCACCGACTTGCTGAGGGCCACTGTGGTGGCCCCTCACCAGCCTCAGTTTCCCCATCCATACACTGAGGACCAAAGCCCCTGCCTCATAGGCCTTGGAGCCCCATGTGGCACAGAGCAGTGGGTCCAGATGTGCCTGTCAGTCCAGCTCTGTCTGCTCATGTGCCTGCCCTGTGTCTTAGGAACCTGCCTTTGGGATGCTGACAGTGCCCCTGAGGACACCCCTCACGCAGCTGCCAGCCGAGCACCATGCAGAAGCCGTGAGCATCTTCAAGCTGGTATGGGGTCTGCCCCAGCCCACCTTCTAATTCTTAGCCCCTGGCCCTGAAACTGGGCCATGAGGCTCCCAGTCTTCCCAGCCCTCCCCAAGCCCAACCCATGAGCCCCACACCTCTTCCCCAAAGGACAGACTTTTATGTCAGAGGGGGAAATCTGGCTTCCTCTCTGAGGACTGGTGGCTTTTCTTCTCCCAGCCATCTTCCTGGCAAAAAAAAAAAAAAAAAAATTCTGCCTTGGAGCCTCTCAAGGACACCAAGAAGAGACCCAGATCTCCTTAAGGACTTCTCAGTCTGAAGGGGGAGGCAGAGTTGACCCAGCCAGTGACCACCAGTATGGACAGAGGGAAGCACCAAGTCTGGGGAGTCTGATGGGGCCACTAATTCAGCCCTGGGCAGGGCCAGAGAGGGCTTCCTGGAGGAGAAGGCATTTGAGCTGGAGGGGAATTTGCCAGGCAGGGAGAGTGGAGAAAGTACACAGAGAAGAGGAAATTGGTGTGGTCAGAACAGAGTCAAGAGGGCAAGGGTGAGACTGGCCAGTGAGGCCTTGATTACAGTACCCAGAGCTTAGATTTCATCCCAAGGCACCTAGGGAGCCAAGGCAGGTGCTTCCATGGGAGGGTTGTGGTCATATCTGAATGTTAAAAAGAACCCTCTGCGGCCTAGATAGAGCAGGAGGTGGGGGCTGGCTGGAGGGCCAGGGGTGCAGGGAGGGGGCTAGGGCTGCATGGGGAGCTCTAGAAGGTTCATGAACAGGAAAGATGACACATACTTTGGATCTTTAGTTTTCCCATAGTTGAGGTAAACTGCCTGGTCATTCGGCATAGAATATGGCAGTTGTAGGCCAAGCACGGTGGCGCACACTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCCCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACGCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGCTGCATGTGCCTGTAATCCTAGCTACCTGAGGGGCTGAGGTGGGAGGATCACTTAGGCCCGGGGAAGTTGAGGCTGCAGTGAGCTGAGATCCCACCACTGCACTCCAGTCTGGGTGACAGAGACTCCATCTCAAAAAAATATTCTATATATATAGCAGTTATATTGTAATATAAGGGACATTTATATGGGCAGGGG 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ATGACCTGCCGGCTAATGGGGACATGTGTGTGTCAGTGCTGAGTCGCCTGTGCAAAGTCATGCCAAACATGTACCGTGTTGGGGTCAGCAAGGTGAGTCCTGCCCGACAGTCAGCCCTTGGAGACCCCAAGTTTGGGGGGGTCCACAACTACTGAGTCAGAAATGTCCAAGCTAGAGACTGCCATCCCAGGAGCAACCCAGATGAGCTTGGGATATGGAATGCTAACTACCTGATTCACCAGCATCCTCTCTTCAACCTCTCCAAGTCCACCCCATCCCTCCAGCCCCGCTCCAGGAGGCTGCCCTGCCTATTCTGTCTCCACGGACTTCTAGAGAGGGAGGGGCCCTTAGTCCAGCCTCCTGGCTCCTATCTGCCTCAGTGCCTTCCTCCTGTCCTTAGCTGTTCCTTAAGGAACACCTATACCAGCTGCTGGAGAGTATGCGAGAGCATGTCCTGAATCTGGCAGCCCTCACTCTGCAGCGCTGCCTCCGTGGCTTCTTCATTAAGCGGCGATTCCGCTCTCTGCGCCACAAGATCATCCTGCTGCAAAGCCGGGCCCGTGGCTACCTTGCCAGGTGAGGCACAGAAAAGGCAGGATTCCTAGGAGACCTATGGTCAGGCTCGGGAGAGGTCACGCCTGAACTTAGGTGGTGAGCTCCCTATCCCTGGAGGCATGCAAGCTGAGGGTGGAGGCCTCTGCAGGAGAATGATCAGATTCTCTGTGTCTCTGCTTTTGAATGCCCTTCCCAGCCAACCCCAGGCCCTTGTGACTGGTGGGTGGGAATCCATTCAGCCAAGAGGGGCCTTACCCTGCATTTCAGGGACCTGAGATTATAAGCTGTTGGGAAATAAATTATTCAGGCAGGTTTAATCCAGGCCTTGCTACTTAATATGCTGTGTGACCTTGGCAAAGTCACTGCCCCTCTCTGAGCTCCAGTTTCCCTTTGAGCCAAAGGACCCCAAAAGTGAGATGTGGGCACTGGCTCCCAGGCCAGGCTGGCAAGGGCCTCTCTACCTTTTGGTCACCCTGTCACCCTGTGGCCCCAATCCCTGACCTCCCCACTACCCCAACCCAGGCAACGCTATCAGCAGATGAGGAGGAGTCTGGTGAAGTTCCGGTCCCTGGTACACGCATACGTGAGCCGCCGACGCTATCTCAAGGTATAGGCCCTACCCTATCTGGGTCCAAGGGGACAGCAGAGAAGGGGAAAGGGCACTTAGCACCCAAGAGGAGACTACTGGCCTCAGGCAGTCTTGGGTTCAAATTCTGCCTCTGCCACCCACTAGCTCTTTAACTTTGGCCATTGTCTATCCTCGATTTTCCCATCTACCCCTTGGGATTGTGGAGAGGGTTAAATGAGATGTTGCATTGAAGGATTTGGCCTGGTGCTGGGTTCACAGTGGGGTCTTCGGGAATTGAGGGCCATTAGAATTTGGTGACCTGAATGTCACTGGGTATGGTTTTGCTCTTACCTTCATGTCTTGACCCACTGTCATGCAAACTAGCCACCAGAAAGACAAATGCAGTTCCCAAAGCAATGAAGCAGTAGGTAGCCTTTACTGAAGGTGGCGCTACAGAGGAGGGCTTCCCATGACACAGTGCTCAGCCACCTCCCAGAAATCCTCCTTGTGTGTCTCTTTCCCCAGCGTTTTTCTCCCTCCGCTTGCCTCTGTTTCTCTCTTGCTCTCTCCTTTTCCCTCCCCTTTTCTCTGGCCAACCTCAGCCTCCCGCCCCACCTGTGGAGTGGGGCAGTCACCTCCACACAACAGGCAAGCTGCCCCCCTTGCTTGAGTGTGGCCGCCTTGCGTAAGCTGGCCTGGCCTGCCTGGGTGCCGGTCGTCACCTCTGCCTGCCACTCCCCAACCTGACATCTTCTCTTCTGAAGCTGAGGGCAGAGTGGAGGTGCCAGGTGGAGGGGGCGCTGCTGTGGGAGCAGGAGGTGGGTGTGGGTCTGGGTGGCAGCAGGGCCAAGGAGGGAGGCTGGCAGGTGGGGATGTGGCAGGCCTGTCCCTGTCCCATGCACTGTCCCTCTAGGAGCTGAGCAAGTGGGAGGTAGTCGCTGTGGGGCACCTGGAGGTACCGGCTGAGCTGGCTGGGCTCTTGCAAGCAGTGGCAGGTGGGTCAGCACCAGGCGGGGGGAGGGCCCAGGCAGATCAGAGCAGGCACCGCATTCCCTCCTCTTTCCACAGGCCTCGGGCTGGCCCAGGTGCCTCAGGTGGCCCCTGTGAGGACTCCTCGACTCCAGGCTGAGCCCCGTGTCACACTGCCCCTGGACATCAACAACTATCCTATGGCCAAGTTTGTCCAGTGCCACTTCAAGGTAAGGGCTAGCTGAAGTCCAAGGCTCCCTGGCTGATAGGCGCTGACCAATTAGAATGGACATTGTCCTTGCCCTGGGGCAGGCTCCTGGCTGTGCCCTGTGGTGTTGGGTATGAGCCTTTTAGTTGCTGGATCATAGGGAATCTGGGAGATCCCTGAGGTCTGGATAGCAGTGGAGAGCCCTCAGGGGCTCGGGCAGGGCTGTTTACCACCAACCAGTCTGGAAATATTTCAGAAATTGAACAACTGGTGGAGCCATAGCATGTCAGCCCAGCTCTGATTTCCTCCCCTTGAGATGAAGGTTTATCCTGTCCCTACCACCGACTTGCTGAGGGCCACTGTGGTGGCCCCTCACCAGCCTCAGTTTCCCCATCCATACACTGAGGACCAAAGCCCCTGCCTCATAGGCCTTGGAGCCCCATGTGGCACAGAGCAGTGGGTCCAGATGTGCCTGTCAGTCCAGCTCTGTCTGCTCATGTGCCTGCCCTGTGTCTTAGGAACCTGCCTTTGGGATGCTGACAGTGCCCCTGAGGACACCCCTCACGCAGCTGCCAGCCGAGCACCATGCAGAAGCCGTGAGCATCTTCAAGCTGGTATGGGGTCTGCCCCAGCCCACCTTCTAATTCTTAGCCCCTGGCCCTGAAACTGGGCCATGAGGCTCCCAGTCTTCCCAGCCCTCCCCAAGCCCAACCCATGAGCCCCACACCTCTTCCCCAAAGGACAGACTTTTATGTCAGAGGGGGAAATCTGGCTTCCTCTCTGAGGACTGGTGGCTTTTCTTCTCCCAGCCATCTTCCTGGCAAAAAAAAAAAAAAAAAAATTCTGCCTTGGAGCCTCTCAAGGACACCAAGAAGAGACCCAGATCTCCTTAAGGACTTCTCAGTCTGAAGGGGGAGGCAGAGTTGACCCAGCCAGTGACCACCAGTATGGACAGAGGGAAGCACCAAGTCTGGGGAGTCTGATGGGGCCACTAATTCAGCCCTGGGCAGGGCCAGAGAGGGCTTCCTGGAGGAGAAGGCATTTGAGCTGGAGGGGAATTTGCCAGGCAGGGAGAGTGGAGAAAGTACACAGAGAAGAGGAAATTGGTGTGGTCAGAACAGAGTCAAGAGGGCAAGGGTGAGACTGGCCAGTGAGGCCTTGATTACAGTACCCAGAGCTTAGATTTCATCCCAAGGCACCTAGGGAGCCAAGGCAGGTGCTTCCATGGGAGGGTTGTGGTCATATCTGAATGTTAAAAAGAACCCTCTGCGGCCTAGATAGAGCAGGAGGTGGGGGCTGGCTGGAGGGCCAGGGGTGCAGGGAGGGGGCTAGGGCTGCATGGGGAGCTCTAGAAGGTTCATGAACAGGAAAGATGACACATACTTTGGATCTTTAGTTTTCCCATAGTTGAGGTAAACTGCCTGGTCATTCGGCATAGAATATGGCAGTTGTAGGCCAAGCACGGTGGCGCACACTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCCCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACGCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGCTGCATGTGCCTGTAATCCTAGCTACCTGAGGGGCTGAGGTGGGAGGATCACTTAGGCCCGGGGAAGTTGAGGCTGCAGTGAGCTGAGATCCCACCACTGCACTCCAGTCTGGGTGACAGAGACTCCATCTCAAAAAAATATTCTATATATATAGCAGTTATATTGTAATATAAGGGACATTTATATGGGCAGGGG 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Task1_train_23859 | The gene MYO15A (myosin XVA) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 3 | CATCCTCTCTTCAACCTCTCCAAGTCCACCCCATCCCTCCAGCCCCGCTCCAGGAGGCTGCCCTGCCTATTCTGTCTCCACGGACTTCTAGAGAGGGAGGGGCCCTTAGTCCAGCCTCCTGGCTCCTATCTGCCTCAGTGCCTTCCTCCTGTCCTTAGCTGTTCCTTAAGGAACACCTATACCAGCTGCTGGAGAGTATGCGAGAGCATGTCCTGAATCTGGCAGCCCTCACTCTGCAGCGCTGCCTCCGTGGCTTCTTCATTAAGCGGCGATTCCGCTCTCTGCGCCACAAGATCATCCTGCTGCAAAGCCGGGCCCGTGGCTACCTTGCCAGGTGAGGCACAGAAAAGGCAGGATTCCTAGGAGACCTATGGTCAGGCTCGGGAGAGGTCACGCCTGAACTTAGGTGGTGAGCTCCCTATCCCTGGAGGCATGCAAGCTGAGGGTGGAGGCCTCTGCAGGAGAATGATCAGATTCTCTGTGTCTCTGCTTTTGAATGCCCTTCCCAGCCAACCCCAGGCCCTTGTGACTGGTGGGTGGGAATCCATTCAGCCAAGAGGGGCCTTACCCTGCATTTCAGGGACCTGAGATTATAAGCTGTTGGGAAATAAATTATTCAGGCAGGTTTAATCCAGGCCTTGCTACTTAATATGCTGTGTGACCTTGGCAAAGTCACTGCCCCTCTCTGAGCTCCAGTTTCCCTTTGAGCCAAAGGACCCCAAAAGTGAGATGTGGGCACTGGCTCCCAGGCCAGGCTGGCAAGGGCCTCTCTACCTTTTGGTCACCCTGTCACCCTGTGGCCCCAATCCCTGACCTCCCCACTACCCCAACCCAGGCAACGCTATCAGCAGATGAGGAGGAGTCTGGTGAAGTTCCGGTCCCTGGTACACGCATACGTGAGCCGCCGACGCTATCTCAAGGTATAGGCCCTACCCTATCTGGGTCCAAGGGGACAGCAGAGAAGGGGAAAGGGCACTTAGCACCCAAGAGGAGACTACTGGCCTCAGGCAGTCTTGGGTTCAAATTCTGCCTCTGCCACCCACTAGCTCTTTAACTTTGGCCATTGTCTATCCTCGATTTTCCCATCTACCCCTTGGGATTGTGGAGAGGGTTAAATGAGATGTTGCATTGAAGGATTTGGCCTGGTGCTGGGTTCACAGTGGGGTCTTCGGGAATTGAGGGCCATTAGAATTTGGTGACCTGAATGTCACTGGGTATGGTTTTGCTCTTACCTTCATGTCTTGACCCACTGTCATGCAAACTAGCCACCAGAAAGACAAATGCAGTTCCCAAAGCAATGAAGCAGTAGGTAGCCTTTACTGAAGGTGGCGCTACAGAGGAGGGCTTCCCATGACACAGTGCTCAGCCACCTCCCAGAAATCCTCCTTGTGTGTCTCTTTCCCCAGCGTTTTTCTCCCTCCGCTTGCCTCTGTTTCTCTCTTGCTCTCTCCTTTTCCCTCCCCTTTTCTCTGGCCAACCTCAGCCTCCCGCCCCACCTGTGGAGTGGGGCAGTCACCTCCACACAACAGGCAAGCTGCCCCCCTTGCTTGAGTGTGGCCGCCTTGCGTAAGCTGGCCTGGCCTGCCTGGGTGCCGGTCGTCACCTCTGCCTGCCACTCCCCAACCTGACATCTTCTCTTCTGAAGCTGAGGGCAGAGTGGAGGTGCCAGGTGGAGGGGGCGCTGCTGTGGGAGCAGGAGGTGGGTGTGGGTCTGGGTGGCAGCAGGGCCAAGGAGGGAGGCTGGCAGGTGGGGATGTGGCAGGCCTGTCCCTGTCCCATGCACTGTCCCTCTAGGAGCTGAGCAAGCGGGAGGTAGTCGCTGTGGGGCACCTGGAGGTACCGGCTGAGCTGGCTGGGCTCTTGCAAGCAGTGGCAGGTGGGTCAGCACCAGGCGGGGGGAGGGCCCAGGCAGATCAGAGCAGGCACCGCATTCCCTCCTCTTTCCACAGGCCTCGGGCTGGCCCAGGTGCCTCAGGTGGCCCCTGTGAGGACTCCTCGACTCCAGGCTGAGCCCCGTGTCACACTGCCCCTGGACATCAACAACTATCCTATGGCCAAGTTTGTCCAGTGCCACTTCAAGGTAAGGGCTAGCTGAAGTCCAAGGCTCCCTGGCTGATAGGCGCTGACCAATTAGAATGGACATTGTCCTTGCCCTGGGGCAGGCTCCTGGCTGTGCCCTGTGGTGTTGGGTATGAGCCTTTTAGTTGCTGGATCATAGGGAATCTGGGAGATCCCTGAGGTCTGGATAGCAGTGGAGAGCCCTCAGGGGCTCGGGCAGGGCTGTTTACCACCAACCAGTCTGGAAATATTTCAGAAATTGAACAACTGGTGGAGCCATAGCATGTCAGCCCAGCTCTGATTTCCTCCCCTTGAGATGAAGGTTTATCCTGTCCCTACCACCGACTTGCTGAGGGCCACTGTGGTGGCCCCTCACCAGCCTCAGTTTCCCCATCCATACACTGAGGACCAAAGCCCCTGCCTCATAGGCCTTGGAGCCCCATGTGGCACAGAGCAGTGGGTCCAGATGTGCCTGTCAGTCCAGCTCTGTCTGCTCATGTGCCTGCCCTGTGTCTTAGGAACCTGCCTTTGGGATGCTGACAGTGCCCCTGAGGACACCCCTCACGCAGCTGCCAGCCGAGCACCATGCAGAAGCCGTGAGCATCTTCAAGCTGGTATGGGGTCTGCCCCAGCCCACCTTCTAATTCTTAGCCCCTGGCCCTGAAACTGGGCCATGAGGCTCCCAGTCTTCCCAGCCCTCCCCAAGCCCAACCCATGAGCCCCACACCTCTTCCCCAAAGGACAGACTTTTATGTCAGAGGGGGAAATCTGGCTTCCTCTCTGAGGACTGGTGGCTTTTCTTCTCCCAGCCATCTTCCTGGCAAAAAAAAAAAAAAAAAAATTCTGCCTTGGAGCCTCTCAAGGACACCAAGAAGAGACCCAGATCTCCTTAAGGACTTCTCAGTCTGAAGGGGGAGGCAGAGTTGACCCAGCCAGTGACCACCAGTATGGACAGAGGGAAGCACCAAGTCTGGGGAGTCTGATGGGGCCACTAATTCAGCCCTGGGCAGGGCCAGAGAGGGCTTCCTGGAGGAGAAGGCATTTGAGCTGGAGGGGAATTTGCCAGGCAGGGAGAGTGGAGAAAGTACACAGAGAAGAGGAAATTGGTGTGGTCAGAACAGAGTCAAGAGGGCAAGGGTGAGACTGGCCAGTGAGGCCTTGATTACAGTACCCAGAGCTTAGATTTCATCCCAAGGCACCTAGGGAGCCAAGGCAGGTGCTTCCATGGGAGGGTTGTGGTCATATCTGAATGTTAAAAAGAACCCTCTGCGGCCTAGATAGAGCAGGAGGTGGGGGCTGGCTGGAGGGCCAGGGGTGCAGGGAGGGGGCTAGGGCTGCATGGGGAGCTCTAGAAGGTTCATGAACAGGAAAGATGACACATACTTTGGATCTTTAGTTTTCCCATAGTTGAGGTAAACTGCCTGGTCATTCGGCATAGAATATGGCAGTTGTAGGCCAAGCACGGTGGCGCACACTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCCCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACGCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGCTGCATGTGCCTGTAATCCTAGCTACCTGAGGGGCTGAGGTGGGAGGATCACTTAGGCCCGGGGAAGTTGAGGCTGCAGTGAGCTGAGATCCCACCACTGCACTCCAGTCTGGGTGACAGAGACTCCATCTCAAAAAAATATTCTATATATATAGCAGTTATATTGTAATATAAGGGACATTTATATGGGCAGGGGCACACATGGGAGGGACATGAGAGGGATGCATGTTGTGGGGTGGGGACTGGAAGGAACAACTTTCTGAGATGCCCAGGAGACTCTGTTCGTGGCCCAGATCCTGCGCTTCATGGGCGACCCCCACCTGCATGGTGCCCGGGAGAACATCTTCGGGAACTACATCGTGCAGAAGGGGCTGGCGGTGCCTGAGCTGCGGGATGAGATCCTGGCACAGCTGGCCAATCAGGTGTGGCACAATCACA 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CATCCTCTCTTCAACCTCTCCAAGTCCACCCCATCCCTCCAGCCCCGCTCCAGGAGGCTGCCCTGCCTATTCTGTCTCCACGGACTTCTAGAGAGGGAGGGGCCCTTAGTCCAGCCTCCTGGCTCCTATCTGCCTCAGTGCCTTCCTCCTGTCCTTAGCTGTTCCTTAAGGAACACCTATACCAGCTGCTGGAGAGTATGCGAGAGCATGTCCTGAATCTGGCAGCCCTCACTCTGCAGCGCTGCCTCCGTGGCTTCTTCATTAAGCGGCGATTCCGCTCTCTGCGCCACAAGATCATCCTGCTGCAAAGCCGGGCCCGTGGCTACCTTGCCAGGTGAGGCACAGAAAAGGCAGGATTCCTAGGAGACCTATGGTCAGGCTCGGGAGAGGTCACGCCTGAACTTAGGTGGTGAGCTCCCTATCCCTGGAGGCATGCAAGCTGAGGGTGGAGGCCTCTGCAGGAGAATGATCAGATTCTCTGTGTCTCTGCTTTTGAATGCCCTTCCCAGCCAACCCCAGGCCCTTGTGACTGGTGGGTGGGAATCCATTCAGCCAAGAGGGGCCTTACCCTGCATTTCAGGGACCTGAGATTATAAGCTGTTGGGAAATAAATTATTCAGGCAGGTTTAATCCAGGCCTTGCTACTTAATATGCTGTGTGACCTTGGCAAAGTCACTGCCCCTCTCTGAGCTCCAGTTTCCCTTTGAGCCAAAGGACCCCAAAAGTGAGATGTGGGCACTGGCTCCCAGGCCAGGCTGGCAAGGGCCTCTCTACCTTTTGGTCACCCTGTCACCCTGTGGCCCCAATCCCTGACCTCCCCACTACCCCAACCCAGGCAACGCTATCAGCAGATGAGGAGGAGTCTGGTGAAGTTCCGGTCCCTGGTACACGCATACGTGAGCCGCCGACGCTATCTCAAGGTATAGGCCCTACCCTATCTGGGTCCAAGGGGACAGCAGAGAAGGGGAAAGGGCACTTAGCACCCAAGAGGAGACTACTGGCCTCAGGCAGTCTTGGGTTCAAATTCTGCCTCTGCCACCCACTAGCTCTTTAACTTTGGCCATTGTCTATCCTCGATTTTCCCATCTACCCCTTGGGATTGTGGAGAGGGTTAAATGAGATGTTGCATTGAAGGATTTGGCCTGGTGCTGGGTTCACAGTGGGGTCTTCGGGAATTGAGGGCCATTAGAATTTGGTGACCTGAATGTCACTGGGTATGGTTTTGCTCTTACCTTCATGTCTTGACCCACTGTCATGCAAACTAGCCACCAGAAAGACAAATGCAGTTCCCAAAGCAATGAAGCAGTAGGTAGCCTTTACTGAAGGTGGCGCTACAGAGGAGGGCTTCCCATGACACAGTGCTCAGCCACCTCCCAGAAATCCTCCTTGTGTGTCTCTTTCCCCAGCGTTTTTCTCCCTCCGCTTGCCTCTGTTTCTCTCTTGCTCTCTCCTTTTCCCTCCCCTTTTCTCTGGCCAACCTCAGCCTCCCGCCCCACCTGTGGAGTGGGGCAGTCACCTCCACACAACAGGCAAGCTGCCCCCCTTGCTTGAGTGTGGCCGCCTTGCGTAAGCTGGCCTGGCCTGCCTGGGTGCCGGTCGTCACCTCTGCCTGCCACTCCCCAACCTGACATCTTCTCTTCTGAAGCTGAGGGCAGAGTGGAGGTGCCAGGTGGAGGGGGCGCTGCTGTGGGAGCAGGAGGTGGGTGTGGGTCTGGGTGGCAGCAGGGCCAAGGAGGGAGGCTGGCAGGTGGGGATGTGGCAGGCCTGTCCCTGTCCCATGCACTGTCCCTCTAGGAGCTGAGCAAGCGGGAGGTAGTCGCTGTGGGGCACCTGGAGGTACCGGCTGAGCTGGCTGGGCTCTTGCAAGCAGTGGCAGGTGGGTCAGCACCAGGCGGGGGGAGGGCCCAGGCAGATCAGAGCAGGCACCGCATTCCCTCCTCTTTCCACAGGCCTCGGGCTGGCCCAGGTGCCTCAGGTGGCCCCTGTGAGGACTCCTCGACTCCAGGCTGAGCCCCGTGTCACACTGCCCCTGGACATCAACAACTATCATATGGCCAAGTTTGTCCAGTGCCACTTCAAGGTAAGGGCTAGCTGAAGTCCAAGGCTCCCTGGCTGATAGGCGCTGACCAATTAGAATGGACATTGTCCTTGCCCTGGGGCAGGCTCCTGGCTGTGCCCTGTGGTGTTGGGTATGAGCCTTTTAGTTGCTGGATCATAGGGAATCTGGGAGATCCCTGAGGTCTGGATAGCAGTGGAGAGCCCTCAGGGGCTCGGGCAGGGCTGTTTACCACCAACCAGTCTGGAAATATTTCAGAAATTGAACAACTGGTGGAGCCATAGCATGTCAGCCCAGCTCTGATTTCCTCCCCTTGAGATGAAGGTTTATCCTGTCCCTACCACCGACTTGCTGAGGGCCACTGTGGTGGCCCCTCACCAGCCTCAGTTTCCCCATCCATACACTGAGGACCAAAGCCCCTGCCTCATAGGCCTTGGAGCCCCATGTGGCACAGAGCAGTGGGTCCAGATGTGCCTGTCAGTCCAGCTCTGTCTGCTCATGTGCCTGCCCTGTGTCTTAGGAACCTGCCTTTGGGATGCTGACAGTGCCCCTGAGGACACCCCTCACGCAGCTGCCAGCCGAGCACCATGCAGAAGCCGTGAGCATCTTCAAGCTGGTATGGGGTCTGCCCCAGCCCACCTTCTAATTCTTAGCCCCTGGCCCTGAAACTGGGCCATGAGGCTCCCAGTCTTCCCAGCCCTCCCCAAGCCCAACCCATGAGCCCCACACCTCTTCCCCAAAGGACAGACTTTTATGTCAGAGGGGGAAATCTGGCTTCCTCTCTGAGGACTGGTGGCTTTTCTTCTCCCAGCCATCTTCCTGGCAAAAAAAAAAAAAAAAAAATTCTGCCTTGGAGCCTCTCAAGGACACCAAGAAGAGACCCAGATCTCCTTAAGGACTTCTCAGTCTGAAGGGGGAGGCAGAGTTGACCCAGCCAGTGACCACCAGTATGGACAGAGGGAAGCACCAAGTCTGGGGAGTCTGATGGGGCCACTAATTCAGCCCTGGGCAGGGCCAGAGAGGGCTTCCTGGAGGAGAAGGCATTTGAGCTGGAGGGGAATTTGCCAGGCAGGGAGAGTGGAGAAAGTACACAGAGAAGAGGAAATTGGTGTGGTCAGAACAGAGTCAAGAGGGCAAGGGTGAGACTGGCCAGTGAGGCCTTGATTACAGTACCCAGAGCTTAGATTTCATCCCAAGGCACCTAGGGAGCCAAGGCAGGTGCTTCCATGGGAGGGTTGTGGTCATATCTGAATGTTAAAAAGAACCCTCTGCGGCCTAGATAGAGCAGGAGGTGGGGGCTGGCTGGAGGGCCAGGGGTGCAGGGAGGGGGCTAGGGCTGCATGGGGAGCTCTAGAAGGTTCATGAACAGGAAAGATGACACATACTTTGGATCTTTAGTTTTCCCATAGTTGAGGTAAACTGCCTGGTCATTCGGCATAGAATATGGCAGTTGTAGGCCAAGCACGGTGGCGCACACTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCCCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACGCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGCTGCATGTGCCTGTAATCCTAGCTACCTGAGGGGCTGAGGTGGGAGGATCACTTAGGCCCGGGGAAGTTGAGGCTGCAGTGAGCTGAGATCCCACCACTGCACTCCAGTCTGGGTGACAGAGACTCCATCTCAAAAAAATATTCTATATATATAGCAGTTATATTGTAATATAAGGGACATTTATATGGGCAGGGGCACACATGGGAGGGACATGAGAGGGATGCATGTTGTGGGGTGGGGACTGGAAGGAACAACTTTCTGAGATGCCCAGGAGACTCTGTTCGTGGCCCAGATCCTGCGCTTCATGGGCGACCCCCACCTGCATGGTGCCCGGGAGAACATCTTCGGGAACTACATCGTGCAGAAGGGGCTGGCGGTGCCTGAGCTGCGGGATGAGATCCTGGCACAGCTGGCCAATCAGGTGTGGCACAATCACA 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Task1_train_23860 | Consider this mutation in MYO15A (myosin XVA) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 3 | GCCCAGGTGCCTCAGGTGGCCCCTGTGAGGACTCCTCGACTCCAGGCTGAGCCCCGTGTCACACTGCCCCTGGACATCAACAACTATCCTATGGCCAAGTTTGTCCAGTGCCACTTCAAGGTAAGGGCTAGCTGAAGTCCAAGGCTCCCTGGCTGATAGGCGCTGACCAATTAGAATGGACATTGTCCTTGCCCTGGGGCAGGCTCCTGGCTGTGCCCTGTGGTGTTGGGTATGAGCCTTTTAGTTGCTGGATCATAGGGAATCTGGGAGATCCCTGAGGTCTGGATAGCAGTGGAGAGCCCTCAGGGGCTCGGGCAGGGCTGTTTACCACCAACCAGTCTGGAAATATTTCAGAAATTGAACAACTGGTGGAGCCATAGCATGTCAGCCCAGCTCTGATTTCCTCCCCTTGAGATGAAGGTTTATCCTGTCCCTACCACCGACTTGCTGAGGGCCACTGTGGTGGCCCCTCACCAGCCTCAGTTTCCCCATCCATACACTGAGGACCAAAGCCCCTGCCTCATAGGCCTTGGAGCCCCATGTGGCACAGAGCAGTGGGTCCAGATGTGCCTGTCAGTCCAGCTCTGTCTGCTCATGTGCCTGCCCTGTGTCTTAGGAACCTGCCTTTGGGATGCTGACAGTGCCCCTGAGGACACCCCTCACGCAGCTGCCAGCCGAGCACCATGCAGAAGCCGTGAGCATCTTCAAGCTGGTATGGGGTCTGCCCCAGCCCACCTTCTAATTCTTAGCCCCTGGCCCTGAAACTGGGCCATGAGGCTCCCAGTCTTCCCAGCCCTCCCCAAGCCCAACCCATGAGCCCCACACCTCTTCCCCAAAGGACAGACTTTTATGTCAGAGGGGGAAATCTGGCTTCCTCTCTGAGGACTGGTGGCTTTTCTTCTCCCAGCCATCTTCCTGGCAAAAAAAAAAAAAAAAAAATTCTGCCTTGGAGCCTCTCAAGGACACCAAGAAGAGACCCAGATCTCCTTAAGGACTTCTCAGTCTGAAGGGGGAGGCAGAGTTGACCCAGCCAGTGACCACCAGTATGGACAGAGGGAAGCACCAAGTCTGGGGAGTCTGATGGGGCCACTAATTCAGCCCTGGGCAGGGCCAGAGAGGGCTTCCTGGAGGAGAAGGCATTTGAGCTGGAGGGGAATTTGCCAGGCAGGGAGAGTGGAGAAAGTACACAGAGAAGAGGAAATTGGTGTGGTCAGAACAGAGTCAAGAGGGCAAGGGTGAGACTGGCCAGTGAGGCCTTGATTACAGTACCCAGAGCTTAGATTTCATCCCAAGGCACCTAGGGAGCCAAGGCAGGTGCTTCCATGGGAGGGTTGTGGTCATATCTGAATGTTAAAAAGAACCCTCTGCGGCCTAGATAGAGCAGGAGGTGGGGGCTGGCTGGAGGGCCAGGGGTGCAGGGAGGGGGCTAGGGCTGCATGGGGAGCTCTAGAAGGTTCATGAACAGGAAAGATGACACATACTTTGGATCTTTAGTTTTCCCATAGTTGAGGTAAACTGCCTGGTCATTCGGCATAGAATATGGCAGTTGTAGGCCAAGCACGGTGGCGCACACTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCCCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACGCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGCTGCATGTGCCTGTAATCCTAGCTACCTGAGGGGCTGAGGTGGGAGGATCACTTAGGCCCGGGGAAGTTGAGGCTGCAGTGAGCTGAGATCCCACCACTGCACTCCAGTCTGGGTGACAGAGACTCCATCTCAAAAAAATATTCTATATATATAGCAGTTATATTGTAATATAAGGGACATTTATATGGGCAGGGGCACACATGGGAGGGACATGAGAGGGATGCATGTTGTGGGGTGGGGACTGGAAGGAACAACTTTCTGAGATGCCCAGGAGACTCTGTTCGTGGCCCAGATCCTGCGCTTCATGGGCGACCCCCACCTGCATGGTGCCCGGGAGAACATCTTCGGGAACTACATCGTGCAGAAGGGGCTGGCGGTGCCTGAGCTGCGGGATGAGATCCTGGCACAGCTGGCCAATCAGGTGTGGCACAATCACAATGCCCACAATGCTGAGCGGGGCTGGCTGCTGCTGGCCGCCTGCCTCAGTGGCTTTGCACCTTCCCCGTGCTTCAACAAGTACCTTCTCAAGTGAGTGGGACTGGATAGGGGCTGGGACACGAGGGACGGTGGCACCAGCAGTGGAGCCCAAGGCAGGGTCTTAAAGGTCAGGCCAGGAGTCAGATCTCTATGCTGGGAAGCTCAGGCATGGAGGCTGGCCAGGGCTGCTCTGCATTTCTACTGGGCTCAGAGCAAGAAAGGAGGGCAGGCCTTCACTGCAGGGGCTAGGAGTTAGGTCAGACTGGATGAGGGACTTCCAGAACTCAGAGTGGGACAAGACCAGCATGTGGAGAATTTGGAAAAGAGCATTGACCTCTCACAGCATGAGAGTTTAATGGGGTGGTTAGGAGCATGGATACGGGACTCAGACAATCAGGGTTCAAATCCCAGCTCAGCCATATATGAGCTGTGTGACCTTGGGTAAGTTACTTAACCTCTCTGGGCTTTAGTTTCCTTACATATCAAATGGGGGTTATTCTTTTATAGTTTATAAGTGTGATGATTGAGTTTTCATGCTCAGGCATGAGATGTGTCACCCTCAAACCTTGCTAAAACATCAGCACAAGACCAGACGCAGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCGCTTGAGCCCAGGAGTTGAAGACCAGCCTGGACAATGTATTGAGACCTTGTCTCTGCAAAAAATTTAAAAATTAGCTAGGCATAGTGGCACACGCATGTAGTCCCAGCTACTCAAGAGGTTGAGGCAAGAGCATTGCTTGAACCCAGGAGGTTGAGGATGCAGTGAGCCAAGATCATGCCACTTACACTTCAGCCTGGGCAACAGAGCAAGACCCTGTCTGATGTTAAAAAAAAATGGCATAATGATAATACCTACTTCATAGGCTCTTGTGTGGATAAAATATATAAACACACGTAAAGTGCTTAGAACAGAGAGGGGCACATGGTAGGTGCTATGTGGGTATAACCATCACAATGATGTCACCCTGCTGGGTGAGAAGGATGATTTGCAAGGAAATCGCTCAGGCAGGCCCTGGGTGTGAATCTCAGCTCTGATACTTACCTGCTGTGTGGCCTGAGACAAGTCACTGTCCCTCTCTGAACCTGTTTCTTCCCTATAATTTGGGGATGGCAACAGAACCCACCTAACAGGGTGGCTGTGAGTTAGAGTATACAGAATCTTGCTTAGGCCAGCATGCAGCAAATGGACATCACCTGGCCAGTCTTGTGACTCTGTGGCAGCTGACAGCAGGGTAAGGCCGTTGCTGGTCTGCCTGCCTGGGGCTTTCCTGAGGGCATGGTGCTAGGTTCCCTCTCTAGCTACTGTGGGCCTGCACCAGTGCTGCTCTTGGCCAGGCTTAGCTGCAGGAGATGTAGGATGTGGGGGTGAGGGAAGCATGAGGAATGGCTGGTAGGGATTGGGCTCATTGGGCCTGGGTTGAGTTGAACCCTCAGCTGTCCCTTTTATAGGTGAAAACTTGGAGGAGAGGCTCAGAGAGGGCAGATAATCATCCAAGGTTGCCCTGTGAGAGAATGGAGACAGAGTTCTGGTTGTTGCCCACACCCAGCTGCAGACCCCAGCCTGTCAATGACATTTTGTTCCAACAAGCTGGTACCTCTTTGGCCTATCCTTGGACCTCTGGGCTGGCCTGAGATACTTCTGGACTAGCCTGGGACCCTTTCAGTTTAGCCGTGGGACTCTAAACTACCCTGAGATCTTTTGTAGGCTAGCCTGGGACCCCTTAAGTGCAGTCCCAGAGCACTGGACTCTAGCCTGGGACCCTTGTGAACCAGCCTGGAGCCTTTTTAGCCTCACCTTGGAGCTCTGGAGTAGCCTGGGCCTTTCTCAGACTAGCCTCAGAATTTCCTACCCCCACCCCGCAGCCCTCAGCC 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GCCCAGGTGCCTCAGGTGGCCCCTGTGAGGACTCCTCGACTCCAGGCTGAGCCCCGTGTCACACTGCCCCTGGACATCAACAACTATCCTATGGCCAAGTTTGTCCAGTGCCACTTCAAGGTAAGGGCTAGCTGAAGTCCAAGGCTCCCTGGCTGATAGGCGCTGACCAATTAGAATGGACATTGTCCTTGCCCTGGGGCAGGCTCCTGGCTGTGCCCTGTGGTGTTGGGTATGAGCCTTTTAGTTGCTGGATCATAGGGAATCTGGGAGATCCCTGAGGTCTGGATAGCAGTGGAGAGCCCTCAGGGGCTCGGGCAGGGCTGTTTACCACCAACCAGTCTGGAAATATTTCAGAAATTGAACAACTGGTGGAGCCATAGCATGTCAGCCCAGCTCTGATTTCCTCCCCTTGAGATGAAGGTTTATCCTGTCCCTACCACCGACTTGCTGAGGGCCACTGTGGTGGCCCCTCACCAGCCTCAGTTTCCCCATCCATACACTGAGGACCAAAGCCCCTGCCTCATAGGCCTTGGAGCCCCATGTGGCACAGAGCAGTGGGTCCAGATGTGCCTGTCAGTCCAGCTCTGTCTGCTCATGTGCCTGCCCTGTGTCTTAGGAACCTGCCTTTGGGATGCTGACAGTGCCCCTGAGGACACCCCTCACGCAGCTGCCAGCCGAGCACCATGCAGAAGCCGTGAGCATCTTCAAGCTGGTATGGGGTCTGCCCCAGCCCACCTTCTAATTCTTAGCCCCTGGCCCTGAAACTGGGCCATGAGGCTCCCAGTCTTCCCAGCCCTCCCCAAGCCCAACCCATGAGCCCCACACCTCTTCCCCAAAGGACAGACTTTTATGTCAGAGGGGGAAATCTGGCTTCCTCTCTGAGGACTGGTGGCTTTTCTTCTCCCAGCCATCTTCCTGGCAAAAAAAAAAAAAAAAAAATTCTGCCTTGGAGCCTCTCAAGGACACCAAGAAGAGACCCAGATCTCCTTAAGGACTTCTCAGTCTGAAGGGGGAGGCAGAGTTGACCCAGCCAGTGACCACCAGTATGGACAGAGGGAAGCACCAAGTCTGGGGAGTCTGATGGGGCCACTAATTCAGCCCTGGGCAGGGCCAGAGAGGGCTTCCTGGAGGAGAAGGCATTTGAGCTGGAGGGGAATTTGCCAGGCAGGGAGAGTGGAGAAAGTACACAGAGAAGAGGAAATTGGTGTGGTCAGAACAGAGTCAAGAGGGCAAGGGTGAGACTGGCCAGTGAGGCCTTGATTACAGTACCCAGAGCTTAGATTTCATCCCAAGGCACCTAGGGAGCCAAGGCAGGTGCTTCCATGGGAGGGTTGTGGTCATATCTGAATGTTAAAAAGAACCCTCTGCGGCCTAGATAGAGCAGGAGGTGGGGGCTGGCTGGAGGGCCAGGGGTGCAGGGAGGGGGCTAGGGCTGCATGGGGAGCTCTAGAAGGTTCATGAACAGGAAAGATGACACATACTTTGGATCTTTAGTTTTCCCATAGTTGAGGTAAACTGCCTGGTCATTCGGCATAGAATATGGCAGTTGTAGGCCAAGCACGGTGGCGCACACTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCCCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACGCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGCTGCATGTGCCTGTAATCCTAGCTACCTGAGGGGCTGAGGTGGGAGGATCACTTAGGCCCGGGGAAGTTGAGGCTGCAGTGAGCTGAGATCCCACCACTGCACTCCAGTCTGGGTGACAGAGACTCCATCTCAAAAAAATATTCTATATATATAGCAGTTATATTGTAATATAAGGGACATTTATATGGGCAGGGGCACACATGGGAGGGACATGAGAGGGATGCATGTTGTGGGGTGGGGACTGGAAGGAACAACTTTCTGAGATGCCCAGGAGACTCTGTTCGTGGCCCAGATCCTGCGCTTCATGGGCGACCCCCACCTGCATGGTGCCCGGGAGAACATCTTCGGGTACTACATCGTGCAGAAGGGGCTGGCGGTGCCTGAGCTGCGGGATGAGATCCTGGCACAGCTGGCCAATCAGGTGTGGCACAATCACAATGCCCACAATGCTGAGCGGGGCTGGCTGCTGCTGGCCGCCTGCCTCAGTGGCTTTGCACCTTCCCCGTGCTTCAACAAGTACCTTCTCAAGTGAGTGGGACTGGATAGGGGCTGGGACACGAGGGACGGTGGCACCAGCAGTGGAGCCCAAGGCAGGGTCTTAAAGGTCAGGCCAGGAGTCAGATCTCTATGCTGGGAAGCTCAGGCATGGAGGCTGGCCAGGGCTGCTCTGCATTTCTACTGGGCTCAGAGCAAGAAAGGAGGGCAGGCCTTCACTGCAGGGGCTAGGAGTTAGGTCAGACTGGATGAGGGACTTCCAGAACTCAGAGTGGGACAAGACCAGCATGTGGAGAATTTGGAAAAGAGCATTGACCTCTCACAGCATGAGAGTTTAATGGGGTGGTTAGGAGCATGGATACGGGACTCAGACAATCAGGGTTCAAATCCCAGCTCAGCCATATATGAGCTGTGTGACCTTGGGTAAGTTACTTAACCTCTCTGGGCTTTAGTTTCCTTACATATCAAATGGGGGTTATTCTTTTATAGTTTATAAGTGTGATGATTGAGTTTTCATGCTCAGGCATGAGATGTGTCACCCTCAAACCTTGCTAAAACATCAGCACAAGACCAGACGCAGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCGCTTGAGCCCAGGAGTTGAAGACCAGCCTGGACAATGTATTGAGACCTTGTCTCTGCAAAAAATTTAAAAATTAGCTAGGCATAGTGGCACACGCATGTAGTCCCAGCTACTCAAGAGGTTGAGGCAAGAGCATTGCTTGAACCCAGGAGGTTGAGGATGCAGTGAGCCAAGATCATGCCACTTACACTTCAGCCTGGGCAACAGAGCAAGACCCTGTCTGATGTTAAAAAAAAATGGCATAATGATAATACCTACTTCATAGGCTCTTGTGTGGATAAAATATATAAACACACGTAAAGTGCTTAGAACAGAGAGGGGCACATGGTAGGTGCTATGTGGGTATAACCATCACAATGATGTCACCCTGCTGGGTGAGAAGGATGATTTGCAAGGAAATCGCTCAGGCAGGCCCTGGGTGTGAATCTCAGCTCTGATACTTACCTGCTGTGTGGCCTGAGACAAGTCACTGTCCCTCTCTGAACCTGTTTCTTCCCTATAATTTGGGGATGGCAACAGAACCCACCTAACAGGGTGGCTGTGAGTTAGAGTATACAGAATCTTGCTTAGGCCAGCATGCAGCAAATGGACATCACCTGGCCAGTCTTGTGACTCTGTGGCAGCTGACAGCAGGGTAAGGCCGTTGCTGGTCTGCCTGCCTGGGGCTTTCCTGAGGGCATGGTGCTAGGTTCCCTCTCTAGCTACTGTGGGCCTGCACCAGTGCTGCTCTTGGCCAGGCTTAGCTGCAGGAGATGTAGGATGTGGGGGTGAGGGAAGCATGAGGAATGGCTGGTAGGGATTGGGCTCATTGGGCCTGGGTTGAGTTGAACCCTCAGCTGTCCCTTTTATAGGTGAAAACTTGGAGGAGAGGCTCAGAGAGGGCAGATAATCATCCAAGGTTGCCCTGTGAGAGAATGGAGACAGAGTTCTGGTTGTTGCCCACACCCAGCTGCAGACCCCAGCCTGTCAATGACATTTTGTTCCAACAAGCTGGTACCTCTTTGGCCTATCCTTGGACCTCTGGGCTGGCCTGAGATACTTCTGGACTAGCCTGGGACCCTTTCAGTTTAGCCGTGGGACTCTAAACTACCCTGAGATCTTTTGTAGGCTAGCCTGGGACCCCTTAAGTGCAGTCCCAGAGCACTGGACTCTAGCCTGGGACCCTTGTGAACCAGCCTGGAGCCTTTTTAGCCTCACCTTGGAGCTCTGGAGTAGCCTGGGCCTTTCTCAGACTAGCCTCAGAATTTCCTACCCCCACCCCGCAGCCCTCAGCC 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Task1_train_23861 | An alteration has been detected in MYO15A (myosin XVA) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 3 | CCTCAGGTGGCCCCTGTGAGGACTCCTCGACTCCAGGCTGAGCCCCGTGTCACACTGCCCCTGGACATCAACAACTATCCTATGGCCAAGTTTGTCCAGTGCCACTTCAAGGTAAGGGCTAGCTGAAGTCCAAGGCTCCCTGGCTGATAGGCGCTGACCAATTAGAATGGACATTGTCCTTGCCCTGGGGCAGGCTCCTGGCTGTGCCCTGTGGTGTTGGGTATGAGCCTTTTAGTTGCTGGATCATAGGGAATCTGGGAGATCCCTGAGGTCTGGATAGCAGTGGAGAGCCCTCAGGGGCTCGGGCAGGGCTGTTTACCACCAACCAGTCTGGAAATATTTCAGAAATTGAACAACTGGTGGAGCCATAGCATGTCAGCCCAGCTCTGATTTCCTCCCCTTGAGATGAAGGTTTATCCTGTCCCTACCACCGACTTGCTGAGGGCCACTGTGGTGGCCCCTCACCAGCCTCAGTTTCCCCATCCATACACTGAGGACCAAAGCCCCTGCCTCATAGGCCTTGGAGCCCCATGTGGCACAGAGCAGTGGGTCCAGATGTGCCTGTCAGTCCAGCTCTGTCTGCTCATGTGCCTGCCCTGTGTCTTAGGAACCTGCCTTTGGGATGCTGACAGTGCCCCTGAGGACACCCCTCACGCAGCTGCCAGCCGAGCACCATGCAGAAGCCGTGAGCATCTTCAAGCTGGTATGGGGTCTGCCCCAGCCCACCTTCTAATTCTTAGCCCCTGGCCCTGAAACTGGGCCATGAGGCTCCCAGTCTTCCCAGCCCTCCCCAAGCCCAACCCATGAGCCCCACACCTCTTCCCCAAAGGACAGACTTTTATGTCAGAGGGGGAAATCTGGCTTCCTCTCTGAGGACTGGTGGCTTTTCTTCTCCCAGCCATCTTCCTGGCAAAAAAAAAAAAAAAAAAATTCTGCCTTGGAGCCTCTCAAGGACACCAAGAAGAGACCCAGATCTCCTTAAGGACTTCTCAGTCTGAAGGGGGAGGCAGAGTTGACCCAGCCAGTGACCACCAGTATGGACAGAGGGAAGCACCAAGTCTGGGGAGTCTGATGGGGCCACTAATTCAGCCCTGGGCAGGGCCAGAGAGGGCTTCCTGGAGGAGAAGGCATTTGAGCTGGAGGGGAATTTGCCAGGCAGGGAGAGTGGAGAAAGTACACAGAGAAGAGGAAATTGGTGTGGTCAGAACAGAGTCAAGAGGGCAAGGGTGAGACTGGCCAGTGAGGCCTTGATTACAGTACCCAGAGCTTAGATTTCATCCCAAGGCACCTAGGGAGCCAAGGCAGGTGCTTCCATGGGAGGGTTGTGGTCATATCTGAATGTTAAAAAGAACCCTCTGCGGCCTAGATAGAGCAGGAGGTGGGGGCTGGCTGGAGGGCCAGGGGTGCAGGGAGGGGGCTAGGGCTGCATGGGGAGCTCTAGAAGGTTCATGAACAGGAAAGATGACACATACTTTGGATCTTTAGTTTTCCCATAGTTGAGGTAAACTGCCTGGTCATTCGGCATAGAATATGGCAGTTGTAGGCCAAGCACGGTGGCGCACACTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCCCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACGCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGCTGCATGTGCCTGTAATCCTAGCTACCTGAGGGGCTGAGGTGGGAGGATCACTTAGGCCCGGGGAAGTTGAGGCTGCAGTGAGCTGAGATCCCACCACTGCACTCCAGTCTGGGTGACAGAGACTCCATCTCAAAAAAATATTCTATATATATAGCAGTTATATTGTAATATAAGGGACATTTATATGGGCAGGGGCACACATGGGAGGGACATGAGAGGGATGCATGTTGTGGGGTGGGGACTGGAAGGAACAACTTTCTGAGATGCCCAGGAGACTCTGTTCGTGGCCCAGATCCTGCGCTTCATGGGCGACCCCCACCTGCATGGTGCCCGGGAGAACATCTTCGGGAACTACATCGTGCAGAAGGGGCTGGCGGTGCCTGAGCTGCGGGATGAGATCCTGGCACAGCTGGCCAATCAGGTGTGGCACAATCACAATGCCCACAATGCTGAGCGGGGCTGGCTGCTGCTGGCCGCCTGCCTCAGTGGCTTTGCACCTTCCCCGTGCTTCAACAAGTACCTTCTCAAGTGAGTGGGACTGGATAGGGGCTGGGACACGAGGGACGGTGGCACCAGCAGTGGAGCCCAAGGCAGGGTCTTAAAGGTCAGGCCAGGAGTCAGATCTCTATGCTGGGAAGCTCAGGCATGGAGGCTGGCCAGGGCTGCTCTGCATTTCTACTGGGCTCAGAGCAAGAAAGGAGGGCAGGCCTTCACTGCAGGGGCTAGGAGTTAGGTCAGACTGGATGAGGGACTTCCAGAACTCAGAGTGGGACAAGACCAGCATGTGGAGAATTTGGAAAAGAGCATTGACCTCTCACAGCATGAGAGTTTAATGGGGTGGTTAGGAGCATGGATACGGGACTCAGACAATCAGGGTTCAAATCCCAGCTCAGCCATATATGAGCTGTGTGACCTTGGGTAAGTTACTTAACCTCTCTGGGCTTTAGTTTCCTTACATATCAAATGGGGGTTATTCTTTTATAGTTTATAAGTGTGATGATTGAGTTTTCATGCTCAGGCATGAGATGTGTCACCCTCAAACCTTGCTAAAACATCAGCACAAGACCAGACGCAGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCGCTTGAGCCCAGGAGTTGAAGACCAGCCTGGACAATGTATTGAGACCTTGTCTCTGCAAAAAATTTAAAAATTAGCTAGGCATAGTGGCACACGCATGTAGTCCCAGCTACTCAAGAGGTTGAGGCAAGAGCATTGCTTGAACCCAGGAGGTTGAGGATGCAGTGAGCCAAGATCATGCCACTTACACTTCAGCCTGGGCAACAGAGCAAGACCCTGTCTGATGTTAAAAAAAAATGGCATAATGATAATACCTACTTCATAGGCTCTTGTGTGGATAAAATATATAAACACACGTAAAGTGCTTAGAACAGAGAGGGGCACATGGTAGGTGCTATGTGGGTATAACCATCACAATGATGTCACCCTGCTGGGTGAGAAGGATGATTTGCAAGGAAATCGCTCAGGCAGGCCCTGGGTGTGAATCTCAGCTCTGATACTTACCTGCTGTGTGGCCTGAGACAAGTCACTGTCCCTCTCTGAACCTGTTTCTTCCCTATAATTTGGGGATGGCAACAGAACCCACCTAACAGGGTGGCTGTGAGTTAGAGTATACAGAATCTTGCTTAGGCCAGCATGCAGCAAATGGACATCACCTGGCCAGTCTTGTGACTCTGTGGCAGCTGACAGCAGGGTAAGGCCGTTGCTGGTCTGCCTGCCTGGGGCTTTCCTGAGGGCATGGTGCTAGGTTCCCTCTCTAGCTACTGTGGGCCTGCACCAGTGCTGCTCTTGGCCAGGCTTAGCTGCAGGAGATGTAGGATGTGGGGGTGAGGGAAGCATGAGGAATGGCTGGTAGGGATTGGGCTCATTGGGCCTGGGTTGAGTTGAACCCTCAGCTGTCCCTTTTATAGGTGAAAACTTGGAGGAGAGGCTCAGAGAGGGCAGATAATCATCCAAGGTTGCCCTGTGAGAGAATGGAGACAGAGTTCTGGTTGTTGCCCACACCCAGCTGCAGACCCCAGCCTGTCAATGACATTTTGTTCCAACAAGCTGGTACCTCTTTGGCCTATCCTTGGACCTCTGGGCTGGCCTGAGATACTTCTGGACTAGCCTGGGACCCTTTCAGTTTAGCCGTGGGACTCTAAACTACCCTGAGATCTTTTGTAGGCTAGCCTGGGACCCCTTAAGTGCAGTCCCAGAGCACTGGACTCTAGCCTGGGACCCTTGTGAACCAGCCTGGAGCCTTTTTAGCCTCACCTTGGAGCTCTGGAGTAGCCTGGGCCTTTCTCAGACTAGCCTCAGAATTTCCTACCCCCACCCCGCAGCCCTCAGCCCCAAGCTAG 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CCTCAGGTGGCCCCTGTGAGGACTCCTCGACTCCAGGCTGAGCCCCGTGTCACACTGCCCCTGGACATCAACAACTATCCTATGGCCAAGTTTGTCCAGTGCCACTTCAAGGTAAGGGCTAGCTGAAGTCCAAGGCTCCCTGGCTGATAGGCGCTGACCAATTAGAATGGACATTGTCCTTGCCCTGGGGCAGGCTCCTGGCTGTGCCCTGTGGTGTTGGGTATGAGCCTTTTAGTTGCTGGATCATAGGGAATCTGGGAGATCCCTGAGGTCTGGATAGCAGTGGAGAGCCCTCAGGGGCTCGGGCAGGGCTGTTTACCACCAACCAGTCTGGAAATATTTCAGAAATTGAACAACTGGTGGAGCCATAGCATGTCAGCCCAGCTCTGATTTCCTCCCCTTGAGATGAAGGTTTATCCTGTCCCTACCACCGACTTGCTGAGGGCCACTGTGGTGGCCCCTCACCAGCCTCAGTTTCCCCATCCATACACTGAGGACCAAAGCCCCTGCCTCATAGGCCTTGGAGCCCCATGTGGCACAGAGCAGTGGGTCCAGATGTGCCTGTCAGTCCAGCTCTGTCTGCTCATGTGCCTGCCCTGTGTCTTAGGAACCTGCCTTTGGGATGCTGACAGTGCCCCTGAGGACACCCCTCACGCAGCTGCCAGCCGAGCACCATGCAGAAGCCGTGAGCATCTTCAAGCTGGTATGGGGTCTGCCCCAGCCCACCTTCTAATTCTTAGCCCCTGGCCCTGAAACTGGGCCATGAGGCTCCCAGTCTTCCCAGCCCTCCCCAAGCCCAACCCATGAGCCCCACACCTCTTCCCCAAAGGACAGACTTTTATGTCAGAGGGGGAAATCTGGCTTCCTCTCTGAGGACTGGTGGCTTTTCTTCTCCCAGCCATCTTCCTGGCAAAAAAAAAAAAAAAAAAATTCTGCCTTGGAGCCTCTCAAGGACACCAAGAAGAGACCCAGATCTCCTTAAGGACTTCTCAGTCTGAAGGGGGAGGCAGAGTTGACCCAGCCAGTGACCACCAGTATGGACAGAGGGAAGCACCAAGTCTGGGGAGTCTGATGGGGCCACTAATTCAGCCCTGGGCAGGGCCAGAGAGGGCTTCCTGGAGGAGAAGGCATTTGAGCTGGAGGGGAATTTGCCAGGCAGGGAGAGTGGAGAAAGTACACAGAGAAGAGGAAATTGGTGTGGTCAGAACAGAGTCAAGAGGGCAAGGGTGAGACTGGCCAGTGAGGCCTTGATTACAGTACCCAGAGCTTAGATTTCATCCCAAGGCACCTAGGGAGCCAAGGCAGGTGCTTCCATGGGAGGGTTGTGGTCATATCTGAATGTTAAAAAGAACCCTCTGCGGCCTAGATAGAGCAGGAGGTGGGGGCTGGCTGGAGGGCCAGGGGTGCAGGGAGGGGGCTAGGGCTGCATGGGGAGCTCTAGAAGGTTCATGAACAGGAAAGATGACACATACTTTGGATCTTTAGTTTTCCCATAGTTGAGGTAAACTGCCTGGTCATTCGGCATAGAATATGGCAGTTGTAGGCCAAGCACGGTGGCGCACACTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCCCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACGCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGCTGCATGTGCCTGTAATCCTAGCTACCTGAGGGGCTGAGGTGGGAGGATCACTTAGGCCCGGGGAAGTTGAGGCTGCAGTGAGCTGAGATCCCACCACTGCACTCCAGTCTGGGTGACAGAGACTCCATCTCAAAAAAATATTCTATATATATAGCAGTTATATTGTAATATAAGGGACATTTATATGGGCAGGGGCACACATGGGAGGGACATGAGAGGGATGCATGTTGTGGGGTGGGGACTGGAAGGAACAACTTTCTGAGATGCCCAGGAGACTCTGTTCGTGGCCCAGATCCTGCGCTTCATGGGCGACCCCCACCTGCATGGTGCCCGGGAGAACATCTTCGGGAACTACATCATGCAGAAGGGGCTGGCGGTGCCTGAGCTGCGGGATGAGATCCTGGCACAGCTGGCCAATCAGGTGTGGCACAATCACAATGCCCACAATGCTGAGCGGGGCTGGCTGCTGCTGGCCGCCTGCCTCAGTGGCTTTGCACCTTCCCCGTGCTTCAACAAGTACCTTCTCAAGTGAGTGGGACTGGATAGGGGCTGGGACACGAGGGACGGTGGCACCAGCAGTGGAGCCCAAGGCAGGGTCTTAAAGGTCAGGCCAGGAGTCAGATCTCTATGCTGGGAAGCTCAGGCATGGAGGCTGGCCAGGGCTGCTCTGCATTTCTACTGGGCTCAGAGCAAGAAAGGAGGGCAGGCCTTCACTGCAGGGGCTAGGAGTTAGGTCAGACTGGATGAGGGACTTCCAGAACTCAGAGTGGGACAAGACCAGCATGTGGAGAATTTGGAAAAGAGCATTGACCTCTCACAGCATGAGAGTTTAATGGGGTGGTTAGGAGCATGGATACGGGACTCAGACAATCAGGGTTCAAATCCCAGCTCAGCCATATATGAGCTGTGTGACCTTGGGTAAGTTACTTAACCTCTCTGGGCTTTAGTTTCCTTACATATCAAATGGGGGTTATTCTTTTATAGTTTATAAGTGTGATGATTGAGTTTTCATGCTCAGGCATGAGATGTGTCACCCTCAAACCTTGCTAAAACATCAGCACAAGACCAGACGCAGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCGCTTGAGCCCAGGAGTTGAAGACCAGCCTGGACAATGTATTGAGACCTTGTCTCTGCAAAAAATTTAAAAATTAGCTAGGCATAGTGGCACACGCATGTAGTCCCAGCTACTCAAGAGGTTGAGGCAAGAGCATTGCTTGAACCCAGGAGGTTGAGGATGCAGTGAGCCAAGATCATGCCACTTACACTTCAGCCTGGGCAACAGAGCAAGACCCTGTCTGATGTTAAAAAAAAATGGCATAATGATAATACCTACTTCATAGGCTCTTGTGTGGATAAAATATATAAACACACGTAAAGTGCTTAGAACAGAGAGGGGCACATGGTAGGTGCTATGTGGGTATAACCATCACAATGATGTCACCCTGCTGGGTGAGAAGGATGATTTGCAAGGAAATCGCTCAGGCAGGCCCTGGGTGTGAATCTCAGCTCTGATACTTACCTGCTGTGTGGCCTGAGACAAGTCACTGTCCCTCTCTGAACCTGTTTCTTCCCTATAATTTGGGGATGGCAACAGAACCCACCTAACAGGGTGGCTGTGAGTTAGAGTATACAGAATCTTGCTTAGGCCAGCATGCAGCAAATGGACATCACCTGGCCAGTCTTGTGACTCTGTGGCAGCTGACAGCAGGGTAAGGCCGTTGCTGGTCTGCCTGCCTGGGGCTTTCCTGAGGGCATGGTGCTAGGTTCCCTCTCTAGCTACTGTGGGCCTGCACCAGTGCTGCTCTTGGCCAGGCTTAGCTGCAGGAGATGTAGGATGTGGGGGTGAGGGAAGCATGAGGAATGGCTGGTAGGGATTGGGCTCATTGGGCCTGGGTTGAGTTGAACCCTCAGCTGTCCCTTTTATAGGTGAAAACTTGGAGGAGAGGCTCAGAGAGGGCAGATAATCATCCAAGGTTGCCCTGTGAGAGAATGGAGACAGAGTTCTGGTTGTTGCCCACACCCAGCTGCAGACCCCAGCCTGTCAATGACATTTTGTTCCAACAAGCTGGTACCTCTTTGGCCTATCCTTGGACCTCTGGGCTGGCCTGAGATACTTCTGGACTAGCCTGGGACCCTTTCAGTTTAGCCGTGGGACTCTAAACTACCCTGAGATCTTTTGTAGGCTAGCCTGGGACCCCTTAAGTGCAGTCCCAGAGCACTGGACTCTAGCCTGGGACCCTTGTGAACCAGCCTGGAGCCTTTTTAGCCTCACCTTGGAGCTCTGGAGTAGCCTGGGCCTTTCTCAGACTAGCCTCAGAATTTCCTACCCCCACCCCGCAGCCCTCAGCCCCAAGCTAG 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Task1_train_23862 | This sequence change occurs on Chromosome 17, altering MYO15A (myosin XVA). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 3 | CCGGTGACCAGTGCACCAAGGCCATCCATGGCACCCACTTCAGGTGAGAGGGCCAGGAGGGAGGGAGGGGAGGGTGTCCAAGTATATGAGGAAGTCTGTGGGCACAGGTGAGTGTGTCGGTGGAGTGTGTGTGTCTATGTCCCTGAGCCCCTGTGTACATCTTGTGAGCACATTGGTGTAATTATAATGTCAATACTTAAGTAGCACAGATCTCAGGCCAGGCCCATCCTGGCCTCATGTAATCCTACCAGAACCCTTCAAGGTAGCACTGTTGTTCCTACATGTTGCAGATGGGGAAATGGAGGCACAGATAGGTTAACTGGCTTGCCTAAGGTCACACAGCTCAAAAGTGTCAGACCAGGGATATCAGCTCAGGCCTCCTGGCATCACAGTTGAAGCCCTAACCTCTACACCCTTTGTCTCTCAGCAGCTGCAGTGATCTTAACAGCTATAAAGCAGTTCCCATCCTGCCCCTGATAAAAAACCCTCTGATGGCTCCTACAATAAGCTCCAAACTCCTCACCGTGGCCTATGAGACGCGACATGATGTGCCCACCTCCCCAGCCTCATCTCCTCTCTTCCTCCCCTTGGCACATTCTGTTCCTCTCTGTTCTCGGAACACTCCAAGCCCACTCCTGCCTTGCATGTTCCCTGTGCCTAGAATGCTCTTCCCCAAGACCTTTGCATGCCTGGCTCCTTCTCACCATTCATGTCACAGCTCAAATGTCACCTCTGTCACCTCGGCAAGGTCTGCCTAGATTGCTAGGAGTGAAGGACCTCACAGACCAGCTCTCCAGGATCCATCCTAAACCACCCTGCTTTACTGCCACCCCAGCCTCGGGCAGTGAGAGCTTTGTTTCTGAATGATCTGTGCCACCCACACCTGCCATGGGCACTAAACTCCAGGGCAGGGGCATTGTTTACCTTATTTGCGGGGCCATCTCAGCCTTTAGCCCAGGCCTGTATACAATAGGTGTTTTGGCTGGGTGTAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGCGGGCGGATCACAAGGTCAAGAGATCAAGACCATCCTGGCCAATATGGTGAAACCCCTTCTCTGCTAAAAACACAAAAATTAGCTGGGCGTGGTGGTGGGCACATCCAATAGGTGTTTTTATGTGTTGAATGAAAGGCTGGGTCATATGTGACCCTTGTGAGCAGCTGTTTCCGTGGACTGCTCCTGGGTCCCCTCCTCCACCCGCCCTGCCTCTCCCATTTCATCCTAGGAGGTGCCTGTGGCCGGGCGCAGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGACCACCTGAGGTCAGGAATTTGAGACTAGCCGGCCCAACATGGCGAAACCCCATCTCTACTAAACATACAAAAAATTAGCCAGGCGTCGTGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGCTTGCAGTGGGCCGAGATTGCGCCACTGCACTCTAGCCTGGGGGACAACAGCGAAACTCCGTCTCAAAAATATATATATATATTAATTAAATAAAAAAACGAGGTGCCTTCTCCTGACTCCCTGATCCCCGCGCTCTCCAGCTCTGCCCTCGCGATCGCTGGAGCCCCCTGAGGAACTCACGCAGACGCGGCTGCACCGCCTCATCAATCCCAACTTCTACGGCTATCAGGACGCCCCCTGGAAGATCTTCCTGCGCAAAGAGGTGCCGAGCACAGCCGTAGCCAGGGGAGGGGCTGAAGCGGGGCAGGGGAGGGGCTGAAGCGAGCAGAGGAGGGTCTAGGACTTGGGGAGGGAGCCCAGGAGGACAGAAAAAGGCCGGGCTGAAACCAGGGGTGGGGTTACAGCCGGGGCGGAACTGCATTTAGGGGGCGGGGCCGGGTGTGAAGCAAGGCCAGGGGGCAGTCGGACAGTACCCACTGAAGCCCCGCCCCTGCAGGTGTTTTACCCCAAGGACAGCTACAGCCATCCTGTGCAGCTTGACCTCCTGTTCCGGCAGGTGAGGTCCTGTCTCCCCTTTCTGCCTCAGTGAACTCAGCAGGGCTGTGTGGACGCAAAGATGAGCTAGCTGCAAAGCCTGCCTCTGCATGTTGGGATTTGGGGTCCTTGACAGGGGTGAGGATGGGCAGCTGTTTTATTGAATCTCCCCCTCCCATGGGCAGGGTCAGTGAGCCCACAGTTCAACCCAATCAGAGCCATAGTCTGTCTGAGCTAGACATGGCCCAGAGATCAAATGTAAACCCTGTAAACCCCCCTATATAGAGTAGGAAACGGTGGCCTAGGAAGGGTGGCCTGGATTGTGGGGCTGAGGAGAAAGGAGAGGGCCCTGTAAGTGGGATCTGATTTACACAGATGACCCAGCTTACAGATGACCCCACTGCTGCAAAATGGGACCCCTCCCACATTGCCACTCACCCTAGTATAGTCCAGCCTGGGTCCCAGCTGGGGGAGTCCCATGTGCTGCCTGCATCACAGCCTGTTCCCACAGATCCTGCACGACACGCTCTCCGAGGCCTGCCTTCGCATCTCTGAGGATGAGAGGCTCAGGATGAAGGCCTTGTTTGGTATCTCGGGGGAGAGGAGGGGTACTGATGGGGCAACCAGTCAGAGGCACAGCCAGCCCTGTCCCAGAGGGAGACTGAGGCTGACAAGCCCAGGCCCACCATCTCCCAGACATGTGCCTCCTTGCTCTGCTTCTCTGGCCTCTCGCATGGCCGGGCTGCATGTTTGGGGTTGGCAATGCCTGACACACTGTGTGTCCTGGCCATCTCATCCATTTCTGGGTTTCAGTTTTCTAGTATAGACACTGGTCAGATACCTTCTTGCTGGGTATCAGCCACCTCCCTCCCTGACATCCCCGAGATGGGGGTTGCCAGGGGAGTGGGGAGAGGGTCCTGACCAGACCTGGCCTCCCATAGCCCAGAACCAGCTGGACACACAGAAGCCTCTGGTAACGGAAAGCGTGAAGCGGGCCGTGGTCAGCACTGCACGAGACACCTGGGAGGTCTACTTCTCCCGCATCTTCCCCGCCACGGTGCGAGCCCCTCACTTGCCCCCTACCTGTCCAGAGGATTCAGGGATGAGACAAGAGGATCCTCACACGCCCTTCATCTCTGCCCCAGGGCAGCGTGGGCACTGGTGTGCAGCTCCTAGCTGTGTCCCACGTGGGCATCAAACTCCTGAGGATGGTCAAGGGTGGCCAGGAGGCCGGCGGGCAGCTGCGGGTCCTGCGTGCATACAGGTGACCAGCAGGGGTGAAGTGGGGCTGGCTGGAGACTGGGATACAGACTGGCATCGGCATTTCCTTCCCCTCCACAGCCACTTACCAAGTACCCATGATGCGCCAGGCTCTGTGCCAAGCCATTGAAGCAAACCCATTTTAGAGCTGGGGAAACTGAGGCTCAGAGAGAGAAGTTGTTTGTCTCAGGTCACACAGCCAGGAAGGGATTGAGCTAGGCACCCACTCCCCTGCCCTCCCCCCAACCTGCACAGCAGCAGCACTGTGCAGAGGGGCAGCTGTGCTGGAAATGACCAAATCCTGATGCAGCTGGGGAGGGAACCACTGCCAGCAGTGACACCTTACTGAGTACTCAGACTCCCTCCCCTGCTAGAAGTCCCTTTTGTCCTTTTTAACACGAGGATGGGAATGGAACCTTGCTAACTGGTTAGGTAAAACCTGCATGCTTTGAAAGATGGAGAGAATTTGGTCAATGGGTGAAAGAGAGATTTGGGTAGGTGCAAATCTAGATTTAGAGCTTGGACCAAGGGACAAAGGGTGGAGAGGGGCCGGAGTGTCAGCCCAAAGGGTGGTAGGAACTGAGCTGAAGCCACAGCCTGGGTCAGAGAGGGGAAGCAGGAAGCTTAGGGTTCTGTGGGAGCTGGCACAATGGGGCCAAGGTGGGGCTGGGCTTCAAATGGGGCAGGACAGGATCAGAAGCAGCACAATAGGTGGAAGGAGGGCATCCCTCTGGCAGGGGAGTCATGCCACCGGCCCATCCTCCAGCTTTGCAGATATCCTGTTTGTGACCATGCCCTCCCAGAACATG 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CCGGTGACCAGTGCACCAAGGCCATCCATGGCACCCACTTCAGGTGAGAGGGCCAGGAGGGAGGGAGGGGAGGGTGTCCAAGTATATGAGGAAGTCTGTGGGCACAGGTGAGTGTGTCGGTGGAGTGTGTGTGTCTATGTCCCTGAGCCCCTGTGTACATCTTGTGAGCACATTGGTGTAATTATAATGTCAATACTTAAGTAGCACAGATCTCAGGCCAGGCCCATCCTGGCCTCATGTAATCCTACCAGAACCCTTCAAGGTAGCACTGTTGTTCCTACATGTTGCAGATGGGGAAATGGAGGCACAGATAGGTTAACTGGCTTGCCTAAGGTCACACAGCTCAAAAGTGTCAGACCAGGGATATCAGCTCAGGCCTCCTGGCATCACAGTTGAAGCCCTAACCTCTACACCCTTTGTCTCTCAGCAGCTGCAGTGATCTTAACAGCTATAAAGCAGTTCCCATCCTGCCCCTGATAAAAAACCCTCTGATGGCTCCTACAATAAGCTCCAAACTCCTCACCGTGGCCTATGAGACGCGACATGATGTGCCCACCTCCCCAGCCTCATCTCCTCTCTTCCTCCCCTTGGCACATTCTGTTCCTCTCTGTTCTCGGAACACTCCAAGCCCACTCCTGCCTTGCATGTTCCCTGTGCCTAGAATGCTCTTCCCCAAGACCTTTGCATGCCTGGCTCCTTCTCACCATTCATGTCACAGCTCAAATGTCACCTCTGTCACCTCGGCAAGGTCTGCCTAGATTGCTAGGAGTGAAGGACCTCACAGACCAGCTCTCCAGGATCCATCCTAAACCACCCTGCTTTACTGCCACCCCAGCCTCGGGCAGTGAGAGCTTTGTTTCTGAATGATCTGTGCCACCCACACCTGCCATGGGCACTAAACTCCAGGGCAGGGGCATTGTTTACCTTATTTGCGGGGCCATCTCAGCCTTTAGCCCAGGCCTGTATACAATAGGTGTTTTGGCTGGGTGTAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGCGGGCGGATCACAAGGTCAAGAGATCAAGACCATCCTGGCCAATATGGTGAAACCCCTTCTCTGCTAAAAACACAAAAATTAGCTGGGCGTGGTGGTGGGCACATCCAATAGGTGTTTTTATGTGTTGAATGAAAGGCTGGGTCATATGTGACCCTTGTGAGCAGCTGTTTCCGTGGACTGCTCCTGGGTCCCCTCCTCCACCCGCCCTGCCTCTCCCATTTCATCCTAGGAGGTGCCTGTGGCCGGGCGCAGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGACCACCTGAGGTCAGGAATTTGAGACTAGCCGGCCCAACATGGCGAAACCCCATCTCTACTAAACATACAAAAAATTAGCCAGGCGTCGTGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGCTTGCAGTGGGCCGAGATTGCGCCACTGCACTCTAGCCTGGGGGACAACAGCGAAACTCCGTCTCAAAAATATATATATATATTAATTAAATAAAAAAACGAGGTGCCTTCTCCTGACTCCCTGATCCCCGCGCTCTCCAGCTCTGCCCTCGCGATCGCTGGAGCCCCCTGAGGAACTCACGCAGACGCGGCTGCACCGCCTCATCAATCCCAACTTCTACGGCTATCAGGACGCCCCCTGGAAGATCTTCCTGCGCAAAGAGGTGCCGAGCACAGCCGTAGCCAGGGGAGGGGCTGAAGCGGGGCAGGGGAGGGGCTGAAGCGAGCAGAGGAGGGTCTAGGACTTGGGGAGGGAGCCCAGGAGGACAGAAAAAGGCCGGGCTGAAACCAGGGGTGGGGTTACAGCCGGGGCGGAACTGCATTTAGGGGGCGGGGCCGGGTGTGAAGCAAGGCCAGGGGGCAGTCGGACAGTACCCACTGAAGCCCCGCCCCTGCAGGTGTTTTACCCCAAGGACAGCTACAGCCATCCTGTGCAGCTTGACCTCCTGTTCCGGCATGTGAGGTCCTGTCTCCCCTTTCTGCCTCAGTGAACTCAGCAGGGCTGTGTGGACGCAAAGATGAGCTAGCTGCAAAGCCTGCCTCTGCATGTTGGGATTTGGGGTCCTTGACAGGGGTGAGGATGGGCAGCTGTTTTATTGAATCTCCCCCTCCCATGGGCAGGGTCAGTGAGCCCACAGTTCAACCCAATCAGAGCCATAGTCTGTCTGAGCTAGACATGGCCCAGAGATCAAATGTAAACCCTGTAAACCCCCCTATATAGAGTAGGAAACGGTGGCCTAGGAAGGGTGGCCTGGATTGTGGGGCTGAGGAGAAAGGAGAGGGCCCTGTAAGTGGGATCTGATTTACACAGATGACCCAGCTTACAGATGACCCCACTGCTGCAAAATGGGACCCCTCCCACATTGCCACTCACCCTAGTATAGTCCAGCCTGGGTCCCAGCTGGGGGAGTCCCATGTGCTGCCTGCATCACAGCCTGTTCCCACAGATCCTGCACGACACGCTCTCCGAGGCCTGCCTTCGCATCTCTGAGGATGAGAGGCTCAGGATGAAGGCCTTGTTTGGTATCTCGGGGGAGAGGAGGGGTACTGATGGGGCAACCAGTCAGAGGCACAGCCAGCCCTGTCCCAGAGGGAGACTGAGGCTGACAAGCCCAGGCCCACCATCTCCCAGACATGTGCCTCCTTGCTCTGCTTCTCTGGCCTCTCGCATGGCCGGGCTGCATGTTTGGGGTTGGCAATGCCTGACACACTGTGTGTCCTGGCCATCTCATCCATTTCTGGGTTTCAGTTTTCTAGTATAGACACTGGTCAGATACCTTCTTGCTGGGTATCAGCCACCTCCCTCCCTGACATCCCCGAGATGGGGGTTGCCAGGGGAGTGGGGAGAGGGTCCTGACCAGACCTGGCCTCCCATAGCCCAGAACCAGCTGGACACACAGAAGCCTCTGGTAACGGAAAGCGTGAAGCGGGCCGTGGTCAGCACTGCACGAGACACCTGGGAGGTCTACTTCTCCCGCATCTTCCCCGCCACGGTGCGAGCCCCTCACTTGCCCCCTACCTGTCCAGAGGATTCAGGGATGAGACAAGAGGATCCTCACACGCCCTTCATCTCTGCCCCAGGGCAGCGTGGGCACTGGTGTGCAGCTCCTAGCTGTGTCCCACGTGGGCATCAAACTCCTGAGGATGGTCAAGGGTGGCCAGGAGGCCGGCGGGCAGCTGCGGGTCCTGCGTGCATACAGGTGACCAGCAGGGGTGAAGTGGGGCTGGCTGGAGACTGGGATACAGACTGGCATCGGCATTTCCTTCCCCTCCACAGCCACTTACCAAGTACCCATGATGCGCCAGGCTCTGTGCCAAGCCATTGAAGCAAACCCATTTTAGAGCTGGGGAAACTGAGGCTCAGAGAGAGAAGTTGTTTGTCTCAGGTCACACAGCCAGGAAGGGATTGAGCTAGGCACCCACTCCCCTGCCCTCCCCCCAACCTGCACAGCAGCAGCACTGTGCAGAGGGGCAGCTGTGCTGGAAATGACCAAATCCTGATGCAGCTGGGGAGGGAACCACTGCCAGCAGTGACACCTTACTGAGTACTCAGACTCCCTCCCCTGCTAGAAGTCCCTTTTGTCCTTTTTAACACGAGGATGGGAATGGAACCTTGCTAACTGGTTAGGTAAAACCTGCATGCTTTGAAAGATGGAGAGAATTTGGTCAATGGGTGAAAGAGAGATTTGGGTAGGTGCAAATCTAGATTTAGAGCTTGGACCAAGGGACAAAGGGTGGAGAGGGGCCGGAGTGTCAGCCCAAAGGGTGGTAGGAACTGAGCTGAAGCCACAGCCTGGGTCAGAGAGGGGAAGCAGGAAGCTTAGGGTTCTGTGGGAGCTGGCACAATGGGGCCAAGGTGGGGCTGGGCTTCAAATGGGGCAGGACAGGATCAGAAGCAGCACAATAGGTGGAAGGAGGGCATCCCTCTGGCAGGGGAGTCATGCCACCGGCCCATCCTCCAGCTTTGCAGATATCCTGTTTGTGACCATGCCCTCCCAGAACATG 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Task1_train_23863 | A variant affecting Chromosome 17, within the gene MYO15A (myosin XVA), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 3 | TGGGAGTCCGAGGCGGGCGGATCACAAGGTCAAGAGATCAAGACCATCCTGGCCAATATGGTGAAACCCCTTCTCTGCTAAAAACACAAAAATTAGCTGGGCGTGGTGGTGGGCACATCCAATAGGTGTTTTTATGTGTTGAATGAAAGGCTGGGTCATATGTGACCCTTGTGAGCAGCTGTTTCCGTGGACTGCTCCTGGGTCCCCTCCTCCACCCGCCCTGCCTCTCCCATTTCATCCTAGGAGGTGCCTGTGGCCGGGCGCAGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGACCACCTGAGGTCAGGAATTTGAGACTAGCCGGCCCAACATGGCGAAACCCCATCTCTACTAAACATACAAAAAATTAGCCAGGCGTCGTGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGCTTGCAGTGGGCCGAGATTGCGCCACTGCACTCTAGCCTGGGGGACAACAGCGAAACTCCGTCTCAAAAATATATATATATATTAATTAAATAAAAAAACGAGGTGCCTTCTCCTGACTCCCTGATCCCCGCGCTCTCCAGCTCTGCCCTCGCGATCGCTGGAGCCCCCTGAGGAACTCACGCAGACGCGGCTGCACCGCCTCATCAATCCCAACTTCTACGGCTATCAGGACGCCCCCTGGAAGATCTTCCTGCGCAAAGAGGTGCCGAGCACAGCCGTAGCCAGGGGAGGGGCTGAAGCGGGGCAGGGGAGGGGCTGAAGCGAGCAGAGGAGGGTCTAGGACTTGGGGAGGGAGCCCAGGAGGACAGAAAAAGGCCGGGCTGAAACCAGGGGTGGGGTTACAGCCGGGGCGGAACTGCATTTAGGGGGCGGGGCCGGGTGTGAAGCAAGGCCAGGGGGCAGTCGGACAGTACCCACTGAAGCCCCGCCCCTGCAGGTGTTTTACCCCAAGGACAGCTACAGCCATCCTGTGCAGCTTGACCTCCTGTTCCGGCAGGTGAGGTCCTGTCTCCCCTTTCTGCCTCAGTGAACTCAGCAGGGCTGTGTGGACGCAAAGATGAGCTAGCTGCAAAGCCTGCCTCTGCATGTTGGGATTTGGGGTCCTTGACAGGGGTGAGGATGGGCAGCTGTTTTATTGAATCTCCCCCTCCCATGGGCAGGGTCAGTGAGCCCACAGTTCAACCCAATCAGAGCCATAGTCTGTCTGAGCTAGACATGGCCCAGAGATCAAATGTAAACCCTGTAAACCCCCCTATATAGAGTAGGAAACGGTGGCCTAGGAAGGGTGGCCTGGATTGTGGGGCTGAGGAGAAAGGAGAGGGCCCTGTAAGTGGGATCTGATTTACACAGATGACCCAGCTTACAGATGACCCCACTGCTGCAAAATGGGACCCCTCCCACATTGCCACTCACCCTAGTATAGTCCAGCCTGGGTCCCAGCTGGGGGAGTCCCATGTGCTGCCTGCATCACAGCCTGTTCCCACAGATCCTGCACGACACGCTCTCCGAGGCCTGCCTTCGCATCTCTGAGGATGAGAGGCTCAGGATGAAGGCCTTGTTTGGTATCTCGGGGGAGAGGAGGGGTACTGATGGGGCAACCAGTCAGAGGCACAGCCAGCCCTGTCCCAGAGGGAGACTGAGGCTGACAAGCCCAGGCCCACCATCTCCCAGACATGTGCCTCCTTGCTCTGCTTCTCTGGCCTCTCGCATGGCCGGGCTGCATGTTTGGGGTTGGCAATGCCTGACACACTGTGTGTCCTGGCCATCTCATCCATTTCTGGGTTTCAGTTTTCTAGTATAGACACTGGTCAGATACCTTCTTGCTGGGTATCAGCCACCTCCCTCCCTGACATCCCCGAGATGGGGGTTGCCAGGGGAGTGGGGAGAGGGTCCTGACCAGACCTGGCCTCCCATAGCCCAGAACCAGCTGGACACACAGAAGCCTCTGGTAACGGAAAGCGTGAAGCGGGCCGTGGTCAGCACTGCACGAGACACCTGGGAGGTCTACTTCTCCCGCATCTTCCCCGCCACGGTGCGAGCCCCTCACTTGCCCCCTACCTGTCCAGAGGATTCAGGGATGAGACAAGAGGATCCTCACACGCCCTTCATCTCTGCCCCAGGGCAGCGTGGGCACTGGTGTGCAGCTCCTAGCTGTGTCCCACGTGGGCATCAAACTCCTGAGGATGGTCAAGGGTGGCCAGGAGGCCGGCGGGCAGCTGCGGGTCCTGCGTGCATACAGGTGACCAGCAGGGGTGAAGTGGGGCTGGCTGGAGACTGGGATACAGACTGGCATCGGCATTTCCTTCCCCTCCACAGCCACTTACCAAGTACCCATGATGCGCCAGGCTCTGTGCCAAGCCATTGAAGCAAACCCATTTTAGAGCTGGGGAAACTGAGGCTCAGAGAGAGAAGTTGTTTGTCTCAGGTCACACAGCCAGGAAGGGATTGAGCTAGGCACCCACTCCCCTGCCCTCCCCCCAACCTGCACAGCAGCAGCACTGTGCAGAGGGGCAGCTGTGCTGGAAATGACCAAATCCTGATGCAGCTGGGGAGGGAACCACTGCCAGCAGTGACACCTTACTGAGTACTCAGACTCCCTCCCCTGCTAGAAGTCCCTTTTGTCCTTTTTAACACGAGGATGGGAATGGAACCTTGCTAACTGGTTAGGTAAAACCTGCATGCTTTGAAAGATGGAGAGAATTTGGTCAATGGGTGAAAGAGAGATTTGGGTAGGTGCAAATCTAGATTTAGAGCTTGGACCAAGGGACAAAGGGTGGAGAGGGGCCGGAGTGTCAGCCCAAAGGGTGGTAGGAACTGAGCTGAAGCCACAGCCTGGGTCAGAGAGGGGAAGCAGGAAGCTTAGGGTTCTGTGGGAGCTGGCACAATGGGGCCAAGGTGGGGCTGGGCTTCAAATGGGGCAGGACAGGATCAGAAGCAGCACAATAGGTGGAAGGAGGGCATCCCTCTGGCAGGGGAGTCATGCCACCGGCCCATCCTCCAGCTTTGCAGATATCCTGTTTGTGACCATGCCCTCCCAGAACATGCTGGAGTTCAACCTGGCCAGTGAGAAGGTCATCCTCTTCTCAGCCCGAGCGCACCAGGTCAAGACCCTGGTAGATGACTTCATCTTGGAGCTGAAGAAGGTCAGGATCTTCTCACAGATCTTCCCTCCACCCAGGCTGAGGGCCAGCAACAGGGATCTCCCTGTTCCAGGGAAATATGACTGTGTCCATAGATTTCTGTCTACCTTAAGGCCTTTGCACTGGCTGTGCCTTCCACTTGGAATACCCTTTCTCCCTTTTGCCTGCTCCTTCAGAAAACCTTTGCCAGTGCCCCCTGCCGGGTGGCACAGCACCTCCTCTGAGGTCTGCAGCAATTGTACTCCTTACCCTCCTGCCTTGGCTGCATGGCCCGCCCACTGCATCACAATCTCTTTCCATCCCCTCTGCCCACTCCTGACTGGCAGCCCCCAGGCCTAGGGCAGGTCATCTCTGTGCCCCAGGCCCGAGGAAGACTTCAGCAGGAAAGTCTGTGAGGGATTGAGTGGGGAAGGCCTATGTGTGTGCCCTAAAGTCCATCTGTGTCCCTCAGACTCACCCTCCAGCCCTTTCTTCCACCCAGAATGCCCTTCCCTCTTCTCACCTAATGAAGGCTCCCTTCCCTGATGAGTCAGGAAGGATGTGAGGAGCAGGGGTGGCCCTAGGCCTCTGGGAGTGGGGTGATAGGGCTGTTGCCCTCACCCTGCCTCTGGCTGACCCAGGACTCTGACTACGTGGTCGCTGTGAGGAACTTCCTGCCTGAGGACCCTGCGCTGCTGGCTTTCCACAAGGGTGACATCATACACCTGCAGCCCCTAGAGCCACCTCGAGTGGGTCAGTGCCACTGGGGTGGGCTGGGGGCAGGAGGGGGAGGCTGGCCAAGGGGGCCTCCCTGGCAGATGCTGACCCGAGCCTGGCCCATAGGCTACAGTGCTGGCTGCGTGGTTCGCAGGAAGGTGGTGTACCTGGAGGAGCTGCGACGTAGAGGCCCCGACTTTGGTGTGTGCCCCAGAACCTGGAACCCC 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TGGGAGTCCGAGGCGGGCGGATCACAAGGTCAAGAGATCAAGACCATCCTGGCCAATATGGTGAAACCCCTTCTCTGCTAAAAACACAAAAATTAGCTGGGCGTGGTGGTGGGCACATCCAATAGGTGTTTTTATGTGTTGAATGAAAGGCTGGGTCATATGTGACCCTTGTGAGCAGCTGTTTCCGTGGACTGCTCCTGGGTCCCCTCCTCCACCCGCCCTGCCTCTCCCATTTCATCCTAGGAGGTGCCTGTGGCCGGGCGCAGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGACCACCTGAGGTCAGGAATTTGAGACTAGCCGGCCCAACATGGCGAAACCCCATCTCTACTAAACATACAAAAAATTAGCCAGGCGTCGTGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGCTTGCAGTGGGCCGAGATTGCGCCACTGCACTCTAGCCTGGGGGACAACAGCGAAACTCCGTCTCAAAAATATATATATATATTAATTAAATAAAAAAACGAGGTGCCTTCTCCTGACTCCCTGATCCCCGCGCTCTCCAGCTCTGCCCTCGCGATCGCTGGAGCCCCCTGAGGAACTCACGCAGACGCGGCTGCACCGCCTCATCAATCCCAACTTCTACGGCTATCAGGACGCCCCCTGGAAGATCTTCCTGCGCAAAGAGGTGCCGAGCACAGCCGTAGCCAGGGGAGGGGCTGAAGCGGGGCAGGGGAGGGGCTGAAGCGAGCAGAGGAGGGTCTAGGACTTGGGGAGGGAGCCCAGGAGGACAGAAAAAGGCCGGGCTGAAACCAGGGGTGGGGTTACAGCCGGGGCGGAACTGCATTTAGGGGGCGGGGCCGGGTGTGAAGCAAGGCCAGGGGGCAGTCGGACAGTACCCACTGAAGCCCCGCCCCTGCAGGTGTTTTACCCCAAGGACAGCTACAGCCATCCTGTGCAGCTTGACCTCCTGTTCCGGCAGGTGAGGTCCTGTCTCCCCTTTCTGCCTCAGTGAACTCAGCAGGGCTGTGTGGACGCAAAGATGAGCTAGCTGCAAAGCCTGCCTCTGCATGTTGGGATTTGGGGTCCTTGACAGGGGTGAGGATGGGCAGCTGTTTTATTGAATCTCCCCCTCCCATGGGCAGGGTCAGTGAGCCCACAGTTCAACCCAATCAGAGCCATAGTCTGTCTGAGCTAGACATGGCCCAGAGATCAAATGTAAACCCTGTAAACCCCCCTATATAGAGTAGGAAACGGTGGCCTAGGAAGGGTGGCCTGGATTGTGGGGCTGAGGAGAAAGGAGAGGGCCCTGTAAGTGGGATCTGATTTACACAGATGACCCAGCTTACAGATGACCCCACTGCTGCAAAATGGGACCCCTCCCACATTGCCACTCACCCTAGTATAGTCCAGCCTGGGTCCCAGCTGGGGGAGTCCCATGTGCTGCCTGCATCACAGCCTGTTCCCACAGATCCTGCACGACACGCTCTCCGAGGCCTGCCTTCGCATCTCTGAGGATGAGAGGCTCAGGATGAAGGCCTTGTTTGGTATCTCGGGGGAGAGGAGGGGTACTGATGGGGCAACCAGTCAGAGGCACAGCCAGCCCTGTCCCAGAGGGAGACTGAGGCTGACAAGCCCAGGCCCACCATCTCCCAGACATGTGCCTCCTTGCTCTGCTTCTCTGGCCTCTCGCATGGCCGGGCTGCATGTTTGGGGTTGGCAATGCCTGACACACTGTGTGTCCTGGCCATCTCATCCATTTCTGGGTTTCAGTTTTCTAGTATAGACACTGGTCAGATACCTTCTTGCTGGGTATCAGCCACCTCCCTCCCTGACATCCCCGAGATGGGGGTTGCCAGGGGAGTGGGGAGAGGGTCCTGACCAGACCTGGCCTCCCATAGCCCAGAACCAGCTGGACACACAGAAGCCTCTGGTAACGGAAAGCGTGAAGCGGGCCGTGGTCAGCACTGCACGAGACACCTGGGAGGTCTACTTCTCCCTCATCTTCCCCGCCACGGTGCGAGCCCCTCACTTGCCCCCTACCTGTCCAGAGGATTCAGGGATGAGACAAGAGGATCCTCACACGCCCTTCATCTCTGCCCCAGGGCAGCGTGGGCACTGGTGTGCAGCTCCTAGCTGTGTCCCACGTGGGCATCAAACTCCTGAGGATGGTCAAGGGTGGCCAGGAGGCCGGCGGGCAGCTGCGGGTCCTGCGTGCATACAGGTGACCAGCAGGGGTGAAGTGGGGCTGGCTGGAGACTGGGATACAGACTGGCATCGGCATTTCCTTCCCCTCCACAGCCACTTACCAAGTACCCATGATGCGCCAGGCTCTGTGCCAAGCCATTGAAGCAAACCCATTTTAGAGCTGGGGAAACTGAGGCTCAGAGAGAGAAGTTGTTTGTCTCAGGTCACACAGCCAGGAAGGGATTGAGCTAGGCACCCACTCCCCTGCCCTCCCCCCAACCTGCACAGCAGCAGCACTGTGCAGAGGGGCAGCTGTGCTGGAAATGACCAAATCCTGATGCAGCTGGGGAGGGAACCACTGCCAGCAGTGACACCTTACTGAGTACTCAGACTCCCTCCCCTGCTAGAAGTCCCTTTTGTCCTTTTTAACACGAGGATGGGAATGGAACCTTGCTAACTGGTTAGGTAAAACCTGCATGCTTTGAAAGATGGAGAGAATTTGGTCAATGGGTGAAAGAGAGATTTGGGTAGGTGCAAATCTAGATTTAGAGCTTGGACCAAGGGACAAAGGGTGGAGAGGGGCCGGAGTGTCAGCCCAAAGGGTGGTAGGAACTGAGCTGAAGCCACAGCCTGGGTCAGAGAGGGGAAGCAGGAAGCTTAGGGTTCTGTGGGAGCTGGCACAATGGGGCCAAGGTGGGGCTGGGCTTCAAATGGGGCAGGACAGGATCAGAAGCAGCACAATAGGTGGAAGGAGGGCATCCCTCTGGCAGGGGAGTCATGCCACCGGCCCATCCTCCAGCTTTGCAGATATCCTGTTTGTGACCATGCCCTCCCAGAACATGCTGGAGTTCAACCTGGCCAGTGAGAAGGTCATCCTCTTCTCAGCCCGAGCGCACCAGGTCAAGACCCTGGTAGATGACTTCATCTTGGAGCTGAAGAAGGTCAGGATCTTCTCACAGATCTTCCCTCCACCCAGGCTGAGGGCCAGCAACAGGGATCTCCCTGTTCCAGGGAAATATGACTGTGTCCATAGATTTCTGTCTACCTTAAGGCCTTTGCACTGGCTGTGCCTTCCACTTGGAATACCCTTTCTCCCTTTTGCCTGCTCCTTCAGAAAACCTTTGCCAGTGCCCCCTGCCGGGTGGCACAGCACCTCCTCTGAGGTCTGCAGCAATTGTACTCCTTACCCTCCTGCCTTGGCTGCATGGCCCGCCCACTGCATCACAATCTCTTTCCATCCCCTCTGCCCACTCCTGACTGGCAGCCCCCAGGCCTAGGGCAGGTCATCTCTGTGCCCCAGGCCCGAGGAAGACTTCAGCAGGAAAGTCTGTGAGGGATTGAGTGGGGAAGGCCTATGTGTGTGCCCTAAAGTCCATCTGTGTCCCTCAGACTCACCCTCCAGCCCTTTCTTCCACCCAGAATGCCCTTCCCTCTTCTCACCTAATGAAGGCTCCCTTCCCTGATGAGTCAGGAAGGATGTGAGGAGCAGGGGTGGCCCTAGGCCTCTGGGAGTGGGGTGATAGGGCTGTTGCCCTCACCCTGCCTCTGGCTGACCCAGGACTCTGACTACGTGGTCGCTGTGAGGAACTTCCTGCCTGAGGACCCTGCGCTGCTGGCTTTCCACAAGGGTGACATCATACACCTGCAGCCCCTAGAGCCACCTCGAGTGGGTCAGTGCCACTGGGGTGGGCTGGGGGCAGGAGGGGGAGGCTGGCCAAGGGGGCCTCCCTGGCAGATGCTGACCCGAGCCTGGCCCATAGGCTACAGTGCTGGCTGCGTGGTTCGCAGGAAGGTGGTGTACCTGGAGGAGCTGCGACGTAGAGGCCCCGACTTTGGTGTGTGCCCCAGAACCTGGAACCCC 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Task1_train_23864 | Located on Chromosome 17, this mutation impacts MYO15A (myosin XVA). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not specified | TGAATGAAAGGCTGGGTCATATGTGACCCTTGTGAGCAGCTGTTTCCGTGGACTGCTCCTGGGTCCCCTCCTCCACCCGCCCTGCCTCTCCCATTTCATCCTAGGAGGTGCCTGTGGCCGGGCGCAGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGACCACCTGAGGTCAGGAATTTGAGACTAGCCGGCCCAACATGGCGAAACCCCATCTCTACTAAACATACAAAAAATTAGCCAGGCGTCGTGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGCTTGCAGTGGGCCGAGATTGCGCCACTGCACTCTAGCCTGGGGGACAACAGCGAAACTCCGTCTCAAAAATATATATATATATTAATTAAATAAAAAAACGAGGTGCCTTCTCCTGACTCCCTGATCCCCGCGCTCTCCAGCTCTGCCCTCGCGATCGCTGGAGCCCCCTGAGGAACTCACGCAGACGCGGCTGCACCGCCTCATCAATCCCAACTTCTACGGCTATCAGGACGCCCCCTGGAAGATCTTCCTGCGCAAAGAGGTGCCGAGCACAGCCGTAGCCAGGGGAGGGGCTGAAGCGGGGCAGGGGAGGGGCTGAAGCGAGCAGAGGAGGGTCTAGGACTTGGGGAGGGAGCCCAGGAGGACAGAAAAAGGCCGGGCTGAAACCAGGGGTGGGGTTACAGCCGGGGCGGAACTGCATTTAGGGGGCGGGGCCGGGTGTGAAGCAAGGCCAGGGGGCAGTCGGACAGTACCCACTGAAGCCCCGCCCCTGCAGGTGTTTTACCCCAAGGACAGCTACAGCCATCCTGTGCAGCTTGACCTCCTGTTCCGGCAGGTGAGGTCCTGTCTCCCCTTTCTGCCTCAGTGAACTCAGCAGGGCTGTGTGGACGCAAAGATGAGCTAGCTGCAAAGCCTGCCTCTGCATGTTGGGATTTGGGGTCCTTGACAGGGGTGAGGATGGGCAGCTGTTTTATTGAATCTCCCCCTCCCATGGGCAGGGTCAGTGAGCCCACAGTTCAACCCAATCAGAGCCATAGTCTGTCTGAGCTAGACATGGCCCAGAGATCAAATGTAAACCCTGTAAACCCCCCTATATAGAGTAGGAAACGGTGGCCTAGGAAGGGTGGCCTGGATTGTGGGGCTGAGGAGAAAGGAGAGGGCCCTGTAAGTGGGATCTGATTTACACAGATGACCCAGCTTACAGATGACCCCACTGCTGCAAAATGGGACCCCTCCCACATTGCCACTCACCCTAGTATAGTCCAGCCTGGGTCCCAGCTGGGGGAGTCCCATGTGCTGCCTGCATCACAGCCTGTTCCCACAGATCCTGCACGACACGCTCTCCGAGGCCTGCCTTCGCATCTCTGAGGATGAGAGGCTCAGGATGAAGGCCTTGTTTGGTATCTCGGGGGAGAGGAGGGGTACTGATGGGGCAACCAGTCAGAGGCACAGCCAGCCCTGTCCCAGAGGGAGACTGAGGCTGACAAGCCCAGGCCCACCATCTCCCAGACATGTGCCTCCTTGCTCTGCTTCTCTGGCCTCTCGCATGGCCGGGCTGCATGTTTGGGGTTGGCAATGCCTGACACACTGTGTGTCCTGGCCATCTCATCCATTTCTGGGTTTCAGTTTTCTAGTATAGACACTGGTCAGATACCTTCTTGCTGGGTATCAGCCACCTCCCTCCCTGACATCCCCGAGATGGGGGTTGCCAGGGGAGTGGGGAGAGGGTCCTGACCAGACCTGGCCTCCCATAGCCCAGAACCAGCTGGACACACAGAAGCCTCTGGTAACGGAAAGCGTGAAGCGGGCCGTGGTCAGCACTGCACGAGACACCTGGGAGGTCTACTTCTCCCGCATCTTCCCCGCCACGGTGCGAGCCCCTCACTTGCCCCCTACCTGTCCAGAGGATTCAGGGATGAGACAAGAGGATCCTCACACGCCCTTCATCTCTGCCCCAGGGCAGCGTGGGCACTGGTGTGCAGCTCCTAGCTGTGTCCCACGTGGGCATCAAACTCCTGAGGATGGTCAAGGGTGGCCAGGAGGCCGGCGGGCAGCTGCGGGTCCTGCGTGCATACAGGTGACCAGCAGGGGTGAAGTGGGGCTGGCTGGAGACTGGGATACAGACTGGCATCGGCATTTCCTTCCCCTCCACAGCCACTTACCAAGTACCCATGATGCGCCAGGCTCTGTGCCAAGCCATTGAAGCAAACCCATTTTAGAGCTGGGGAAACTGAGGCTCAGAGAGAGAAGTTGTTTGTCTCAGGTCACACAGCCAGGAAGGGATTGAGCTAGGCACCCACTCCCCTGCCCTCCCCCCAACCTGCACAGCAGCAGCACTGTGCAGAGGGGCAGCTGTGCTGGAAATGACCAAATCCTGATGCAGCTGGGGAGGGAACCACTGCCAGCAGTGACACCTTACTGAGTACTCAGACTCCCTCCCCTGCTAGAAGTCCCTTTTGTCCTTTTTAACACGAGGATGGGAATGGAACCTTGCTAACTGGTTAGGTAAAACCTGCATGCTTTGAAAGATGGAGAGAATTTGGTCAATGGGTGAAAGAGAGATTTGGGTAGGTGCAAATCTAGATTTAGAGCTTGGACCAAGGGACAAAGGGTGGAGAGGGGCCGGAGTGTCAGCCCAAAGGGTGGTAGGAACTGAGCTGAAGCCACAGCCTGGGTCAGAGAGGGGAAGCAGGAAGCTTAGGGTTCTGTGGGAGCTGGCACAATGGGGCCAAGGTGGGGCTGGGCTTCAAATGGGGCAGGACAGGATCAGAAGCAGCACAATAGGTGGAAGGAGGGCATCCCTCTGGCAGGGGAGTCATGCCACCGGCCCATCCTCCAGCTTTGCAGATATCCTGTTTGTGACCATGCCCTCCCAGAACATGCTGGAGTTCAACCTGGCCAGTGAGAAGGTCATCCTCTTCTCAGCCCGAGCGCACCAGGTCAAGACCCTGGTAGATGACTTCATCTTGGAGCTGAAGAAGGTCAGGATCTTCTCACAGATCTTCCCTCCACCCAGGCTGAGGGCCAGCAACAGGGATCTCCCTGTTCCAGGGAAATATGACTGTGTCCATAGATTTCTGTCTACCTTAAGGCCTTTGCACTGGCTGTGCCTTCCACTTGGAATACCCTTTCTCCCTTTTGCCTGCTCCTTCAGAAAACCTTTGCCAGTGCCCCCTGCCGGGTGGCACAGCACCTCCTCTGAGGTCTGCAGCAATTGTACTCCTTACCCTCCTGCCTTGGCTGCATGGCCCGCCCACTGCATCACAATCTCTTTCCATCCCCTCTGCCCACTCCTGACTGGCAGCCCCCAGGCCTAGGGCAGGTCATCTCTGTGCCCCAGGCCCGAGGAAGACTTCAGCAGGAAAGTCTGTGAGGGATTGAGTGGGGAAGGCCTATGTGTGTGCCCTAAAGTCCATCTGTGTCCCTCAGACTCACCCTCCAGCCCTTTCTTCCACCCAGAATGCCCTTCCCTCTTCTCACCTAATGAAGGCTCCCTTCCCTGATGAGTCAGGAAGGATGTGAGGAGCAGGGGTGGCCCTAGGCCTCTGGGAGTGGGGTGATAGGGCTGTTGCCCTCACCCTGCCTCTGGCTGACCCAGGACTCTGACTACGTGGTCGCTGTGAGGAACTTCCTGCCTGAGGACCCTGCGCTGCTGGCTTTCCACAAGGGTGACATCATACACCTGCAGCCCCTAGAGCCACCTCGAGTGGGTCAGTGCCACTGGGGTGGGCTGGGGGCAGGAGGGGGAGGCTGGCCAAGGGGGCCTCCCTGGCAGATGCTGACCCGAGCCTGGCCCATAGGCTACAGTGCTGGCTGCGTGGTTCGCAGGAAGGTGGTGTACCTGGAGGAGCTGCGACGTAGAGGCCCCGACTTTGGTGTGTGCCCCAGAACCTGGAACCCCATACGGGGCGCATCCTAGTTTCACCCACTCGTGGTGCAGATGCACAGTGAGGGTTTCTTGGTGCCCGAAAGTGGCCTGGGCTGGTCAGGTCTCCTAAGGTCCAGCCGTGGCCTGTCAGTATCTGTTGGTGGCCAGACAG 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TGAATGAAAGGCTGGGTCATATGTGACCCTTGTGAGCAGCTGTTTCCGTGGACTGCTCCTGGGTCCCCTCCTCCACCCGCCCTGCCTCTCCCATTTCATCCTAGGAGGTGCCTGTGGCCGGGCGCAGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGACCACCTGAGGTCAGGAATTTGAGACTAGCCGGCCCAACATGGCGAAACCCCATCTCTACTAAACATACAAAAAATTAGCCAGGCGTCGTGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGCTTGCAGTGGGCCGAGATTGCGCCACTGCACTCTAGCCTGGGGGACAACAGCGAAACTCCGTCTCAAAAATATATATATATATTAATTAAATAAAAAAACGAGGTGCCTTCTCCTGACTCCCTGATCCCCGCGCTCTCCAGCTCTGCCCTCGCGATCGCTGGAGCCCCCTGAGGAACTCACGCAGACGCGGCTGCACCGCCTCATCAATCCCAACTTCTACGGCTATCAGGACGCCCCCTGGAAGATCTTCCTGCGCAAAGAGGTGCCGAGCACAGCCGTAGCCAGGGGAGGGGCTGAAGCGGGGCAGGGGAGGGGCTGAAGCGAGCAGAGGAGGGTCTAGGACTTGGGGAGGGAGCCCAGGAGGACAGAAAAAGGCCGGGCTGAAACCAGGGGTGGGGTTACAGCCGGGGCGGAACTGCATTTAGGGGGCGGGGCCGGGTGTGAAGCAAGGCCAGGGGGCAGTCGGACAGTACCCACTGAAGCCCCGCCCCTGCAGGTGTTTTACCCCAAGGACAGCTACAGCCATCCTGTGCAGCTTGACCTCCTGTTCCGGCAGGTGAGGTCCTGTCTCCCCTTTCTGCCTCAGTGAACTCAGCAGGGCTGTGTGGACGCAAAGATGAGCTAGCTGCAAAGCCTGCCTCTGCATGTTGGGATTTGGGGTCCTTGACAGGGGTGAGGATGGGCAGCTGTTTTATTGAATCTCCCCCTCCCATGGGCAGGGTCAGTGAGCCCACAGTTCAACCCAATCAGAGCCATAGTCTGTCTGAGCTAGACATGGCCCAGAGATCAAATGTAAACCCTGTAAACCCCCCTATATAGAGTAGGAAACGGTGGCCTAGGAAGGGTGGCCTGGATTGTGGGGCTGAGGAGAAAGGAGAGGGCCCTGTAAGTGGGATCTGATTTACACAGATGACCCAGCTTACAGATGACCCCACTGCTGCAAAATGGGACCCCTCCCACATTGCCACTCACCCTAGTATAGTCCAGCCTGGGTCCCAGCTGGGGGAGTCCCATGTGCTGCCTGCATCACAGCCTGTTCCCACAGATCCTGCACGACACGCTCTCCGAGGCCTGCCTTCGCATCTCTGAGGATGAGAGGCTCAGGATGAAGGCCTTGTTTGGTATCTCGGGGGAGAGGAGGGGTACTGATGGGGCAACCAGTCAGAGGCACAGCCAGCCCTGTCCCAGAGGGAGACTGAGGCTGACAAGCCCAGGCCCACCATCTCCCAGACATGTGCCTCCTTGCTCTGCTTCTCTGGCCTCTCGCATGGCCGGGCTGCATGTTTGGGGTTGGCAATGCCTGACACACTGTGTGTCCTGGCCATCTCATCCATTTCTGGGTTTCAGTTTTCTAGTATAGACACTGGTCAGATACCTTCTTGCTGGGTATCAGCCACCTCCCTCCCTGACATCCCCGAGATGGGGGTTGCCAGGGGAGTGGGGAGAGGGTCCTGACCAGACCTGGCCTCCCATAGCCCAGAACCAGCTGGACACACAGAAGCCTCTGGTAACGGAAAGCGTGAAGCGGGCCGTGGTCAGCACTGCACGAGACACCTGGGAGGTCTACTTCTCCCGCATCTTCCCCGCCACGGTGCGAGCCCCTCACTTGCCCCCTACCTGTCCAGAGGATTCAGGGATGAGACAAGAGGATCCTCACACGCCCTTCATCTCTGCCCCAGGGCAGCGTGGGCACTGGTGTGCAGCTCCTAGCTGCGTCCCACGTGGGCATCAAACTCCTGAGGATGGTCAAGGGTGGCCAGGAGGCCGGCGGGCAGCTGCGGGTCCTGCGTGCATACAGGTGACCAGCAGGGGTGAAGTGGGGCTGGCTGGAGACTGGGATACAGACTGGCATCGGCATTTCCTTCCCCTCCACAGCCACTTACCAAGTACCCATGATGCGCCAGGCTCTGTGCCAAGCCATTGAAGCAAACCCATTTTAGAGCTGGGGAAACTGAGGCTCAGAGAGAGAAGTTGTTTGTCTCAGGTCACACAGCCAGGAAGGGATTGAGCTAGGCACCCACTCCCCTGCCCTCCCCCCAACCTGCACAGCAGCAGCACTGTGCAGAGGGGCAGCTGTGCTGGAAATGACCAAATCCTGATGCAGCTGGGGAGGGAACCACTGCCAGCAGTGACACCTTACTGAGTACTCAGACTCCCTCCCCTGCTAGAAGTCCCTTTTGTCCTTTTTAACACGAGGATGGGAATGGAACCTTGCTAACTGGTTAGGTAAAACCTGCATGCTTTGAAAGATGGAGAGAATTTGGTCAATGGGTGAAAGAGAGATTTGGGTAGGTGCAAATCTAGATTTAGAGCTTGGACCAAGGGACAAAGGGTGGAGAGGGGCCGGAGTGTCAGCCCAAAGGGTGGTAGGAACTGAGCTGAAGCCACAGCCTGGGTCAGAGAGGGGAAGCAGGAAGCTTAGGGTTCTGTGGGAGCTGGCACAATGGGGCCAAGGTGGGGCTGGGCTTCAAATGGGGCAGGACAGGATCAGAAGCAGCACAATAGGTGGAAGGAGGGCATCCCTCTGGCAGGGGAGTCATGCCACCGGCCCATCCTCCAGCTTTGCAGATATCCTGTTTGTGACCATGCCCTCCCAGAACATGCTGGAGTTCAACCTGGCCAGTGAGAAGGTCATCCTCTTCTCAGCCCGAGCGCACCAGGTCAAGACCCTGGTAGATGACTTCATCTTGGAGCTGAAGAAGGTCAGGATCTTCTCACAGATCTTCCCTCCACCCAGGCTGAGGGCCAGCAACAGGGATCTCCCTGTTCCAGGGAAATATGACTGTGTCCATAGATTTCTGTCTACCTTAAGGCCTTTGCACTGGCTGTGCCTTCCACTTGGAATACCCTTTCTCCCTTTTGCCTGCTCCTTCAGAAAACCTTTGCCAGTGCCCCCTGCCGGGTGGCACAGCACCTCCTCTGAGGTCTGCAGCAATTGTACTCCTTACCCTCCTGCCTTGGCTGCATGGCCCGCCCACTGCATCACAATCTCTTTCCATCCCCTCTGCCCACTCCTGACTGGCAGCCCCCAGGCCTAGGGCAGGTCATCTCTGTGCCCCAGGCCCGAGGAAGACTTCAGCAGGAAAGTCTGTGAGGGATTGAGTGGGGAAGGCCTATGTGTGTGCCCTAAAGTCCATCTGTGTCCCTCAGACTCACCCTCCAGCCCTTTCTTCCACCCAGAATGCCCTTCCCTCTTCTCACCTAATGAAGGCTCCCTTCCCTGATGAGTCAGGAAGGATGTGAGGAGCAGGGGTGGCCCTAGGCCTCTGGGAGTGGGGTGATAGGGCTGTTGCCCTCACCCTGCCTCTGGCTGACCCAGGACTCTGACTACGTGGTCGCTGTGAGGAACTTCCTGCCTGAGGACCCTGCGCTGCTGGCTTTCCACAAGGGTGACATCATACACCTGCAGCCCCTAGAGCCACCTCGAGTGGGTCAGTGCCACTGGGGTGGGCTGGGGGCAGGAGGGGGAGGCTGGCCAAGGGGGCCTCCCTGGCAGATGCTGACCCGAGCCTGGCCCATAGGCTACAGTGCTGGCTGCGTGGTTCGCAGGAAGGTGGTGTACCTGGAGGAGCTGCGACGTAGAGGCCCCGACTTTGGTGTGTGCCCCAGAACCTGGAACCCCATACGGGGCGCATCCTAGTTTCACCCACTCGTGGTGCAGATGCACAGTGAGGGTTTCTTGGTGCCCGAAAGTGGCCTGGGCTGGTCAGGTCTCCTAAGGTCCAGCCGTGGCCTGTCAGTATCTGTTGGTGGCCAGACAG 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Task1_train_23865 | An alteration has been detected in MYO15A (myosin XVA) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 3 | TGAATGAAAGGCTGGGTCATATGTGACCCTTGTGAGCAGCTGTTTCCGTGGACTGCTCCTGGGTCCCCTCCTCCACCCGCCCTGCCTCTCCCATTTCATCCTAGGAGGTGCCTGTGGCCGGGCGCAGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGACCACCTGAGGTCAGGAATTTGAGACTAGCCGGCCCAACATGGCGAAACCCCATCTCTACTAAACATACAAAAAATTAGCCAGGCGTCGTGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGCTTGCAGTGGGCCGAGATTGCGCCACTGCACTCTAGCCTGGGGGACAACAGCGAAACTCCGTCTCAAAAATATATATATATATTAATTAAATAAAAAAACGAGGTGCCTTCTCCTGACTCCCTGATCCCCGCGCTCTCCAGCTCTGCCCTCGCGATCGCTGGAGCCCCCTGAGGAACTCACGCAGACGCGGCTGCACCGCCTCATCAATCCCAACTTCTACGGCTATCAGGACGCCCCCTGGAAGATCTTCCTGCGCAAAGAGGTGCCGAGCACAGCCGTAGCCAGGGGAGGGGCTGAAGCGGGGCAGGGGAGGGGCTGAAGCGAGCAGAGGAGGGTCTAGGACTTGGGGAGGGAGCCCAGGAGGACAGAAAAAGGCCGGGCTGAAACCAGGGGTGGGGTTACAGCCGGGGCGGAACTGCATTTAGGGGGCGGGGCCGGGTGTGAAGCAAGGCCAGGGGGCAGTCGGACAGTACCCACTGAAGCCCCGCCCCTGCAGGTGTTTTACCCCAAGGACAGCTACAGCCATCCTGTGCAGCTTGACCTCCTGTTCCGGCAGGTGAGGTCCTGTCTCCCCTTTCTGCCTCAGTGAACTCAGCAGGGCTGTGTGGACGCAAAGATGAGCTAGCTGCAAAGCCTGCCTCTGCATGTTGGGATTTGGGGTCCTTGACAGGGGTGAGGATGGGCAGCTGTTTTATTGAATCTCCCCCTCCCATGGGCAGGGTCAGTGAGCCCACAGTTCAACCCAATCAGAGCCATAGTCTGTCTGAGCTAGACATGGCCCAGAGATCAAATGTAAACCCTGTAAACCCCCCTATATAGAGTAGGAAACGGTGGCCTAGGAAGGGTGGCCTGGATTGTGGGGCTGAGGAGAAAGGAGAGGGCCCTGTAAGTGGGATCTGATTTACACAGATGACCCAGCTTACAGATGACCCCACTGCTGCAAAATGGGACCCCTCCCACATTGCCACTCACCCTAGTATAGTCCAGCCTGGGTCCCAGCTGGGGGAGTCCCATGTGCTGCCTGCATCACAGCCTGTTCCCACAGATCCTGCACGACACGCTCTCCGAGGCCTGCCTTCGCATCTCTGAGGATGAGAGGCTCAGGATGAAGGCCTTGTTTGGTATCTCGGGGGAGAGGAGGGGTACTGATGGGGCAACCAGTCAGAGGCACAGCCAGCCCTGTCCCAGAGGGAGACTGAGGCTGACAAGCCCAGGCCCACCATCTCCCAGACATGTGCCTCCTTGCTCTGCTTCTCTGGCCTCTCGCATGGCCGGGCTGCATGTTTGGGGTTGGCAATGCCTGACACACTGTGTGTCCTGGCCATCTCATCCATTTCTGGGTTTCAGTTTTCTAGTATAGACACTGGTCAGATACCTTCTTGCTGGGTATCAGCCACCTCCCTCCCTGACATCCCCGAGATGGGGGTTGCCAGGGGAGTGGGGAGAGGGTCCTGACCAGACCTGGCCTCCCATAGCCCAGAACCAGCTGGACACACAGAAGCCTCTGGTAACGGAAAGCGTGAAGCGGGCCGTGGTCAGCACTGCACGAGACACCTGGGAGGTCTACTTCTCCCGCATCTTCCCCGCCACGGTGCGAGCCCCTCACTTGCCCCCTACCTGTCCAGAGGATTCAGGGATGAGACAAGAGGATCCTCACACGCCCTTCATCTCTGCCCCAGGGCAGCGTGGGCACTGGTGTGCAGCTCCTAGCTGTGTCCCACGTGGGCATCAAACTCCTGAGGATGGTCAAGGGTGGCCAGGAGGCCGGCGGGCAGCTGCGGGTCCTGCGTGCATACAGGTGACCAGCAGGGGTGAAGTGGGGCTGGCTGGAGACTGGGATACAGACTGGCATCGGCATTTCCTTCCCCTCCACAGCCACTTACCAAGTACCCATGATGCGCCAGGCTCTGTGCCAAGCCATTGAAGCAAACCCATTTTAGAGCTGGGGAAACTGAGGCTCAGAGAGAGAAGTTGTTTGTCTCAGGTCACACAGCCAGGAAGGGATTGAGCTAGGCACCCACTCCCCTGCCCTCCCCCCAACCTGCACAGCAGCAGCACTGTGCAGAGGGGCAGCTGTGCTGGAAATGACCAAATCCTGATGCAGCTGGGGAGGGAACCACTGCCAGCAGTGACACCTTACTGAGTACTCAGACTCCCTCCCCTGCTAGAAGTCCCTTTTGTCCTTTTTAACACGAGGATGGGAATGGAACCTTGCTAACTGGTTAGGTAAAACCTGCATGCTTTGAAAGATGGAGAGAATTTGGTCAATGGGTGAAAGAGAGATTTGGGTAGGTGCAAATCTAGATTTAGAGCTTGGACCAAGGGACAAAGGGTGGAGAGGGGCCGGAGTGTCAGCCCAAAGGGTGGTAGGAACTGAGCTGAAGCCACAGCCTGGGTCAGAGAGGGGAAGCAGGAAGCTTAGGGTTCTGTGGGAGCTGGCACAATGGGGCCAAGGTGGGGCTGGGCTTCAAATGGGGCAGGACAGGATCAGAAGCAGCACAATAGGTGGAAGGAGGGCATCCCTCTGGCAGGGGAGTCATGCCACCGGCCCATCCTCCAGCTTTGCAGATATCCTGTTTGTGACCATGCCCTCCCAGAACATGCTGGAGTTCAACCTGGCCAGTGAGAAGGTCATCCTCTTCTCAGCCCGAGCGCACCAGGTCAAGACCCTGGTAGATGACTTCATCTTGGAGCTGAAGAAGGTCAGGATCTTCTCACAGATCTTCCCTCCACCCAGGCTGAGGGCCAGCAACAGGGATCTCCCTGTTCCAGGGAAATATGACTGTGTCCATAGATTTCTGTCTACCTTAAGGCCTTTGCACTGGCTGTGCCTTCCACTTGGAATACCCTTTCTCCCTTTTGCCTGCTCCTTCAGAAAACCTTTGCCAGTGCCCCCTGCCGGGTGGCACAGCACCTCCTCTGAGGTCTGCAGCAATTGTACTCCTTACCCTCCTGCCTTGGCTGCATGGCCCGCCCACTGCATCACAATCTCTTTCCATCCCCTCTGCCCACTCCTGACTGGCAGCCCCCAGGCCTAGGGCAGGTCATCTCTGTGCCCCAGGCCCGAGGAAGACTTCAGCAGGAAAGTCTGTGAGGGATTGAGTGGGGAAGGCCTATGTGTGTGCCCTAAAGTCCATCTGTGTCCCTCAGACTCACCCTCCAGCCCTTTCTTCCACCCAGAATGCCCTTCCCTCTTCTCACCTAATGAAGGCTCCCTTCCCTGATGAGTCAGGAAGGATGTGAGGAGCAGGGGTGGCCCTAGGCCTCTGGGAGTGGGGTGATAGGGCTGTTGCCCTCACCCTGCCTCTGGCTGACCCAGGACTCTGACTACGTGGTCGCTGTGAGGAACTTCCTGCCTGAGGACCCTGCGCTGCTGGCTTTCCACAAGGGTGACATCATACACCTGCAGCCCCTAGAGCCACCTCGAGTGGGTCAGTGCCACTGGGGTGGGCTGGGGGCAGGAGGGGGAGGCTGGCCAAGGGGGCCTCCCTGGCAGATGCTGACCCGAGCCTGGCCCATAGGCTACAGTGCTGGCTGCGTGGTTCGCAGGAAGGTGGTGTACCTGGAGGAGCTGCGACGTAGAGGCCCCGACTTTGGTGTGTGCCCCAGAACCTGGAACCCCATACGGGGCGCATCCTAGTTTCACCCACTCGTGGTGCAGATGCACAGTGAGGGTTTCTTGGTGCCCGAAAGTGGCCTGGGCTGGTCAGGTCTCCTAAGGTCCAGCCGTGGCCTGTCAGTATCTGTTGGTGGCCAGACAG 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TGAATGAAAGGCTGGGTCATATGTGACCCTTGTGAGCAGCTGTTTCCGTGGACTGCTCCTGGGTCCCCTCCTCCACCCGCCCTGCCTCTCCCATTTCATCCTAGGAGGTGCCTGTGGCCGGGCGCAGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGACCACCTGAGGTCAGGAATTTGAGACTAGCCGGCCCAACATGGCGAAACCCCATCTCTACTAAACATACAAAAAATTAGCCAGGCGTCGTGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGCTTGCAGTGGGCCGAGATTGCGCCACTGCACTCTAGCCTGGGGGACAACAGCGAAACTCCGTCTCAAAAATATATATATATATTAATTAAATAAAAAAACGAGGTGCCTTCTCCTGACTCCCTGATCCCCGCGCTCTCCAGCTCTGCCCTCGCGATCGCTGGAGCCCCCTGAGGAACTCACGCAGACGCGGCTGCACCGCCTCATCAATCCCAACTTCTACGGCTATCAGGACGCCCCCTGGAAGATCTTCCTGCGCAAAGAGGTGCCGAGCACAGCCGTAGCCAGGGGAGGGGCTGAAGCGGGGCAGGGGAGGGGCTGAAGCGAGCAGAGGAGGGTCTAGGACTTGGGGAGGGAGCCCAGGAGGACAGAAAAAGGCCGGGCTGAAACCAGGGGTGGGGTTACAGCCGGGGCGGAACTGCATTTAGGGGGCGGGGCCGGGTGTGAAGCAAGGCCAGGGGGCAGTCGGACAGTACCCACTGAAGCCCCGCCCCTGCAGGTGTTTTACCCCAAGGACAGCTACAGCCATCCTGTGCAGCTTGACCTCCTGTTCCGGCAGGTGAGGTCCTGTCTCCCCTTTCTGCCTCAGTGAACTCAGCAGGGCTGTGTGGACGCAAAGATGAGCTAGCTGCAAAGCCTGCCTCTGCATGTTGGGATTTGGGGTCCTTGACAGGGGTGAGGATGGGCAGCTGTTTTATTGAATCTCCCCCTCCCATGGGCAGGGTCAGTGAGCCCACAGTTCAACCCAATCAGAGCCATAGTCTGTCTGAGCTAGACATGGCCCAGAGATCAAATGTAAACCCTGTAAACCCCCCTATATAGAGTAGGAAACGGTGGCCTAGGAAGGGTGGCCTGGATTGTGGGGCTGAGGAGAAAGGAGAGGGCCCTGTAAGTGGGATCTGATTTACACAGATGACCCAGCTTACAGATGACCCCACTGCTGCAAAATGGGACCCCTCCCACATTGCCACTCACCCTAGTATAGTCCAGCCTGGGTCCCAGCTGGGGGAGTCCCATGTGCTGCCTGCATCACAGCCTGTTCCCACAGATCCTGCACGACACGCTCTCCGAGGCCTGCCTTCGCATCTCTGAGGATGAGAGGCTCAGGATGAAGGCCTTGTTTGGTATCTCGGGGGAGAGGAGGGGTACTGATGGGGCAACCAGTCAGAGGCACAGCCAGCCCTGTCCCAGAGGGAGACTGAGGCTGACAAGCCCAGGCCCACCATCTCCCAGACATGTGCCTCCTTGCTCTGCTTCTCTGGCCTCTCGCATGGCCGGGCTGCATGTTTGGGGTTGGCAATGCCTGACACACTGTGTGTCCTGGCCATCTCATCCATTTCTGGGTTTCAGTTTTCTAGTATAGACACTGGTCAGATACCTTCTTGCTGGGTATCAGCCACCTCCCTCCCTGACATCCCCGAGATGGGGGTTGCCAGGGGAGTGGGGAGAGGGTCCTGACCAGACCTGGCCTCCCATAGCCCAGAACCAGCTGGACACACAGAAGCCTCTGGTAACGGAAAGCGTGAAGCGGGCCGTGGTCAGCACTGCACGAGACACCTGGGAGGTCTACTTCTCCCGCATCTTCCCCGCCACGGTGCGAGCCCCTCACTTGCCCCCTACCTGTCCAGAGGATTCAGGGATGAGACAAGAGGATCCTCACACGCCCTTCATCTCTGCCCCAGGGCAGCGTGGGCACTGGTGTGCAGCTCCTAGCTGCGTCCCACGTGGGCATCAAACTCCTGAGGATGGTCAAGGGTGGCCAGGAGGCCGGCGGGCAGCTGCGGGTCCTGCGTGCATACAGGTGACCAGCAGGGGTGAAGTGGGGCTGGCTGGAGACTGGGATACAGACTGGCATCGGCATTTCCTTCCCCTCCACAGCCACTTACCAAGTACCCATGATGCGCCAGGCTCTGTGCCAAGCCATTGAAGCAAACCCATTTTAGAGCTGGGGAAACTGAGGCTCAGAGAGAGAAGTTGTTTGTCTCAGGTCACACAGCCAGGAAGGGATTGAGCTAGGCACCCACTCCCCTGCCCTCCCCCCAACCTGCACAGCAGCAGCACTGTGCAGAGGGGCAGCTGTGCTGGAAATGACCAAATCCTGATGCAGCTGGGGAGGGAACCACTGCCAGCAGTGACACCTTACTGAGTACTCAGACTCCCTCCCCTGCTAGAAGTCCCTTTTGTCCTTTTTAACACGAGGATGGGAATGGAACCTTGCTAACTGGTTAGGTAAAACCTGCATGCTTTGAAAGATGGAGAGAATTTGGTCAATGGGTGAAAGAGAGATTTGGGTAGGTGCAAATCTAGATTTAGAGCTTGGACCAAGGGACAAAGGGTGGAGAGGGGCCGGAGTGTCAGCCCAAAGGGTGGTAGGAACTGAGCTGAAGCCACAGCCTGGGTCAGAGAGGGGAAGCAGGAAGCTTAGGGTTCTGTGGGAGCTGGCACAATGGGGCCAAGGTGGGGCTGGGCTTCAAATGGGGCAGGACAGGATCAGAAGCAGCACAATAGGTGGAAGGAGGGCATCCCTCTGGCAGGGGAGTCATGCCACCGGCCCATCCTCCAGCTTTGCAGATATCCTGTTTGTGACCATGCCCTCCCAGAACATGCTGGAGTTCAACCTGGCCAGTGAGAAGGTCATCCTCTTCTCAGCCCGAGCGCACCAGGTCAAGACCCTGGTAGATGACTTCATCTTGGAGCTGAAGAAGGTCAGGATCTTCTCACAGATCTTCCCTCCACCCAGGCTGAGGGCCAGCAACAGGGATCTCCCTGTTCCAGGGAAATATGACTGTGTCCATAGATTTCTGTCTACCTTAAGGCCTTTGCACTGGCTGTGCCTTCCACTTGGAATACCCTTTCTCCCTTTTGCCTGCTCCTTCAGAAAACCTTTGCCAGTGCCCCCTGCCGGGTGGCACAGCACCTCCTCTGAGGTCTGCAGCAATTGTACTCCTTACCCTCCTGCCTTGGCTGCATGGCCCGCCCACTGCATCACAATCTCTTTCCATCCCCTCTGCCCACTCCTGACTGGCAGCCCCCAGGCCTAGGGCAGGTCATCTCTGTGCCCCAGGCCCGAGGAAGACTTCAGCAGGAAAGTCTGTGAGGGATTGAGTGGGGAAGGCCTATGTGTGTGCCCTAAAGTCCATCTGTGTCCCTCAGACTCACCCTCCAGCCCTTTCTTCCACCCAGAATGCCCTTCCCTCTTCTCACCTAATGAAGGCTCCCTTCCCTGATGAGTCAGGAAGGATGTGAGGAGCAGGGGTGGCCCTAGGCCTCTGGGAGTGGGGTGATAGGGCTGTTGCCCTCACCCTGCCTCTGGCTGACCCAGGACTCTGACTACGTGGTCGCTGTGAGGAACTTCCTGCCTGAGGACCCTGCGCTGCTGGCTTTCCACAAGGGTGACATCATACACCTGCAGCCCCTAGAGCCACCTCGAGTGGGTCAGTGCCACTGGGGTGGGCTGGGGGCAGGAGGGGGAGGCTGGCCAAGGGGGCCTCCCTGGCAGATGCTGACCCGAGCCTGGCCCATAGGCTACAGTGCTGGCTGCGTGGTTCGCAGGAAGGTGGTGTACCTGGAGGAGCTGCGACGTAGAGGCCCCGACTTTGGTGTGTGCCCCAGAACCTGGAACCCCATACGGGGCGCATCCTAGTTTCACCCACTCGTGGTGCAGATGCACAGTGAGGGTTTCTTGGTGCCCGAAAGTGGCCTGGGCTGGTCAGGTCTCCTAAGGTCCAGCCGTGGCCTGTCAGTATCTGTTGGTGGCCAGACAG 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Task1_train_23866 | A variant affecting Chromosome 17, within the gene MYO15A (myosin XVA), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 3 | CAGCCATCCTGTGCAGCTTGACCTCCTGTTCCGGCAGGTGAGGTCCTGTCTCCCCTTTCTGCCTCAGTGAACTCAGCAGGGCTGTGTGGACGCAAAGATGAGCTAGCTGCAAAGCCTGCCTCTGCATGTTGGGATTTGGGGTCCTTGACAGGGGTGAGGATGGGCAGCTGTTTTATTGAATCTCCCCCTCCCATGGGCAGGGTCAGTGAGCCCACAGTTCAACCCAATCAGAGCCATAGTCTGTCTGAGCTAGACATGGCCCAGAGATCAAATGTAAACCCTGTAAACCCCCCTATATAGAGTAGGAAACGGTGGCCTAGGAAGGGTGGCCTGGATTGTGGGGCTGAGGAGAAAGGAGAGGGCCCTGTAAGTGGGATCTGATTTACACAGATGACCCAGCTTACAGATGACCCCACTGCTGCAAAATGGGACCCCTCCCACATTGCCACTCACCCTAGTATAGTCCAGCCTGGGTCCCAGCTGGGGGAGTCCCATGTGCTGCCTGCATCACAGCCTGTTCCCACAGATCCTGCACGACACGCTCTCCGAGGCCTGCCTTCGCATCTCTGAGGATGAGAGGCTCAGGATGAAGGCCTTGTTTGGTATCTCGGGGGAGAGGAGGGGTACTGATGGGGCAACCAGTCAGAGGCACAGCCAGCCCTGTCCCAGAGGGAGACTGAGGCTGACAAGCCCAGGCCCACCATCTCCCAGACATGTGCCTCCTTGCTCTGCTTCTCTGGCCTCTCGCATGGCCGGGCTGCATGTTTGGGGTTGGCAATGCCTGACACACTGTGTGTCCTGGCCATCTCATCCATTTCTGGGTTTCAGTTTTCTAGTATAGACACTGGTCAGATACCTTCTTGCTGGGTATCAGCCACCTCCCTCCCTGACATCCCCGAGATGGGGGTTGCCAGGGGAGTGGGGAGAGGGTCCTGACCAGACCTGGCCTCCCATAGCCCAGAACCAGCTGGACACACAGAAGCCTCTGGTAACGGAAAGCGTGAAGCGGGCCGTGGTCAGCACTGCACGAGACACCTGGGAGGTCTACTTCTCCCGCATCTTCCCCGCCACGGTGCGAGCCCCTCACTTGCCCCCTACCTGTCCAGAGGATTCAGGGATGAGACAAGAGGATCCTCACACGCCCTTCATCTCTGCCCCAGGGCAGCGTGGGCACTGGTGTGCAGCTCCTAGCTGTGTCCCACGTGGGCATCAAACTCCTGAGGATGGTCAAGGGTGGCCAGGAGGCCGGCGGGCAGCTGCGGGTCCTGCGTGCATACAGGTGACCAGCAGGGGTGAAGTGGGGCTGGCTGGAGACTGGGATACAGACTGGCATCGGCATTTCCTTCCCCTCCACAGCCACTTACCAAGTACCCATGATGCGCCAGGCTCTGTGCCAAGCCATTGAAGCAAACCCATTTTAGAGCTGGGGAAACTGAGGCTCAGAGAGAGAAGTTGTTTGTCTCAGGTCACACAGCCAGGAAGGGATTGAGCTAGGCACCCACTCCCCTGCCCTCCCCCCAACCTGCACAGCAGCAGCACTGTGCAGAGGGGCAGCTGTGCTGGAAATGACCAAATCCTGATGCAGCTGGGGAGGGAACCACTGCCAGCAGTGACACCTTACTGAGTACTCAGACTCCCTCCCCTGCTAGAAGTCCCTTTTGTCCTTTTTAACACGAGGATGGGAATGGAACCTTGCTAACTGGTTAGGTAAAACCTGCATGCTTTGAAAGATGGAGAGAATTTGGTCAATGGGTGAAAGAGAGATTTGGGTAGGTGCAAATCTAGATTTAGAGCTTGGACCAAGGGACAAAGGGTGGAGAGGGGCCGGAGTGTCAGCCCAAAGGGTGGTAGGAACTGAGCTGAAGCCACAGCCTGGGTCAGAGAGGGGAAGCAGGAAGCTTAGGGTTCTGTGGGAGCTGGCACAATGGGGCCAAGGTGGGGCTGGGCTTCAAATGGGGCAGGACAGGATCAGAAGCAGCACAATAGGTGGAAGGAGGGCATCCCTCTGGCAGGGGAGTCATGCCACCGGCCCATCCTCCAGCTTTGCAGATATCCTGTTTGTGACCATGCCCTCCCAGAACATGCTGGAGTTCAACCTGGCCAGTGAGAAGGTCATCCTCTTCTCAGCCCGAGCGCACCAGGTCAAGACCCTGGTAGATGACTTCATCTTGGAGCTGAAGAAGGTCAGGATCTTCTCACAGATCTTCCCTCCACCCAGGCTGAGGGCCAGCAACAGGGATCTCCCTGTTCCAGGGAAATATGACTGTGTCCATAGATTTCTGTCTACCTTAAGGCCTTTGCACTGGCTGTGCCTTCCACTTGGAATACCCTTTCTCCCTTTTGCCTGCTCCTTCAGAAAACCTTTGCCAGTGCCCCCTGCCGGGTGGCACAGCACCTCCTCTGAGGTCTGCAGCAATTGTACTCCTTACCCTCCTGCCTTGGCTGCATGGCCCGCCCACTGCATCACAATCTCTTTCCATCCCCTCTGCCCACTCCTGACTGGCAGCCCCCAGGCCTAGGGCAGGTCATCTCTGTGCCCCAGGCCCGAGGAAGACTTCAGCAGGAAAGTCTGTGAGGGATTGAGTGGGGAAGGCCTATGTGTGTGCCCTAAAGTCCATCTGTGTCCCTCAGACTCACCCTCCAGCCCTTTCTTCCACCCAGAATGCCCTTCCCTCTTCTCACCTAATGAAGGCTCCCTTCCCTGATGAGTCAGGAAGGATGTGAGGAGCAGGGGTGGCCCTAGGCCTCTGGGAGTGGGGTGATAGGGCTGTTGCCCTCACCCTGCCTCTGGCTGACCCAGGACTCTGACTACGTGGTCGCTGTGAGGAACTTCCTGCCTGAGGACCCTGCGCTGCTGGCTTTCCACAAGGGTGACATCATACACCTGCAGCCCCTAGAGCCACCTCGAGTGGGTCAGTGCCACTGGGGTGGGCTGGGGGCAGGAGGGGGAGGCTGGCCAAGGGGGCCTCCCTGGCAGATGCTGACCCGAGCCTGGCCCATAGGCTACAGTGCTGGCTGCGTGGTTCGCAGGAAGGTGGTGTACCTGGAGGAGCTGCGACGTAGAGGCCCCGACTTTGGTGTGTGCCCCAGAACCTGGAACCCCATACGGGGCGCATCCTAGTTTCACCCACTCGTGGTGCAGATGCACAGTGAGGGTTTCTTGGTGCCCGAAAGTGGCCTGGGCTGGTCAGGTCTCCTAAGGTCCAGCCGTGGCCTGTCAGTATCTGTTGGTGGCCAGACAGCCCAGCCCTCTGCTTTGCCTGAGGGGTCTCCGTGGGCATTTCCATGTTTGTGGCCTGAATCTCTCTTTATGTCTCCACATGACCTGAGAGTCCACAAACCCTGCTTTGCCTTTTTGCTTCACTTCCCCTTTATGGTCCTGTGGCCCTGAGAAAATCCCTTTCTTTCCCTGAGCCTGTTTCCTCATCTGTAAAATGGGTTTGATGGCCTGGCCTGCCTCATAGAGTTCCAGAGAAGGGTTAAGAATGTTCCCAAATCTCCCTAAAGGACCCCCTTAGTCACAAGACAAGACCCTCCTGTTTGCCTCAGACCTTTTACCCACCCCTAGGCTGGAGGTTCGGGACCATCCACGGGCGCGTGGGCCGCTTCCCTTCGGAGCTGGTGCAGCCCGCTGCTGCCCCCGACTTCCTGCAGCTGCCAACGGAGCCAGGCCGCGGCCGAGCAGCCGCCGTGGCCGCTGCTGTGGCCTCTGCAGCCGCTGCACAGGAGGTGGGCCGCAGGAGAGAGGTGAGACCAGTGTGGGTGGGGTGGGGCGGGGTAGACCAGGGGGAAGGGGCCGCTGCAGAAGGGGTGAGGCGAGTGGGGATAAGGTGGGCCAAGGGCCTGGCCAGGCTCTTGGGGCGTGGCTGATCTTGGACTAGTGTGAGGGTGAACCAGGTAGAGTGAGCCGCAGGTGAGACCCGGGAGATGGGACCAGAGATGGTTGGAGGTGTGGCCAAATGGGGTAGGGAAGGATGAAGATCAGCTGGTTGTAATCAGGACAATGGGGTCAGACCAGCCGGGGCCCGCCAGTTGGTGAAGTCTACTGGGTTTGGGGCGGTGCCAGGTGAGTGGGCGGCTTGTGGAGCTAGCGAGG 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CAGCCATCCTGTGCAGCTTGACCTCCTGTTCCGGCAGGTGAGGTCCTGTCTCCCCTTTCTGCCTCAGTGAACTCAGCAGGGCTGTGTGGACGCAAAGATGAGCTAGCTGCAAAGCCTGCCTCTGCATGTTGGGATTTGGGGTCCTTGACAGGGGTGAGGATGGGCAGCTGTTTTATTGAATCTCCCCCTCCCATGGGCAGGGTCAGTGAGCCCACAGTTCAACCCAATCAGAGCCATAGTCTGTCTGAGCTAGACATGGCCCAGAGATCAAATGTAAACCCTGTAAACCCCCCTATATAGAGTAGGAAACGGTGGCCTAGGAAGGGTGGCCTGGATTGTGGGGCTGAGGAGAAAGGAGAGGGCCCTGTAAGTGGGATCTGATTTACACAGATGACCCAGCTTACAGATGACCCCACTGCTGCAAAATGGGACCCCTCCCACATTGCCACTCACCCTAGTATAGTCCAGCCTGGGTCCCAGCTGGGGGAGTCCCATGTGCTGCCTGCATCACAGCCTGTTCCCACAGATCCTGCACGACACGCTCTCCGAGGCCTGCCTTCGCATCTCTGAGGATGAGAGGCTCAGGATGAAGGCCTTGTTTGGTATCTCGGGGGAGAGGAGGGGTACTGATGGGGCAACCAGTCAGAGGCACAGCCAGCCCTGTCCCAGAGGGAGACTGAGGCTGACAAGCCCAGGCCCACCATCTCCCAGACATGTGCCTCCTTGCTCTGCTTCTCTGGCCTCTCGCATGGCCGGGCTGCATGTTTGGGGTTGGCAATGCCTGACACACTGTGTGTCCTGGCCATCTCATCCATTTCTGGGTTTCAGTTTTCTAGTATAGACACTGGTCAGATACCTTCTTGCTGGGTATCAGCCACCTCCCTCCCTGACATCCCCGAGATGGGGGTTGCCAGGGGAGTGGGGAGAGGGTCCTGACCAGACCTGGCCTCCCATAGCCCAGAACCAGCTGGACACACAGAAGCCTCTGGTAACGGAAAGCGTGAAGCGGGCCGTGGTCAGCACTGCACGAGACACCTGGGAGGTCTACTTCTCCCGCATCTTCCCCGCCACGGTGCGAGCCCCTCACTTGCCCCCTACCTGTCCAGAGGATTCAGGGATGAGACAAGAGGATCCTCACACGCCCTTCATCTCTGCCCCAGGGCAGCGTGGGCACTGGTGTGCAGCTCCTAGCTGTGTCCCACGTGGGCATCAAACTCCTGAGGATGGTCAAGGGTGGCCAGGAGGCCGGCGGGCAGCTGCGGGTCCTGCGTGCATACAGGTGACCAGCAGGGGTGAAGTGGGGCTGGCTGGAGACTGGGATACAGACTGGCATCGGCATTTCCTTCCCCTCCACAGCCACTTACCAAGTACCCATGATGCGCCAGGCTCTGTGCCAAGCCATTGAAGCAAACCCATTTTAGAGCTGGGGAAACTGAGGCTCAGAGAGAGAAGTTGTTTGTCTCAGGTCACACAGCCAGGAAGGGATTGAGCTAGGCACCCACTCCCCTGCCCTCCCCCCAACCTGCACAGCAGCAGCACTGTGCAGAGGGGCAGCTGTGCTGGAAATGACCAAATCCTGATGCAGCTGGGGAGGGAACCACTGCCAGCAGTGACACCTTACTGAGTACTCAGACTCCCTCCCCTGCTAGAAGTCCCTTTTGTCCTTTTTAACACGAGGATGGGAATGGAACCTTGCTAACTGGTTAGGTAAAACCTGCATGCTTTGAAAGATGGAGAGAATTTGGTCAATGGGTGAAAGAGAGATTTGGGTAGGTGCAAATCTAGATTTAGAGCTTGGACCAAGGGACAAAGGGTGGAGAGGGGCCGGAGTGTCAGCCCAAAGGGTGGTAGGAACTGAGCTGAAGCCACAGCCTGGGTCAGAGAGGGGAAGCAGGAAGCTTAGGGTTCTGTGGGAGCTGGCACAATGGGGCCAAGGTGGGGCTGGGCTTCAAATGGGGCAGGACAGGATCAGAAGCAGCACAATAGGTGGAAGGAGGGCATCCCTCTGGCAGGGGAGTCATGCCACCGGCCCATCCTCCAGCTTTGCAAATATCCTGTTTGTGACCATGCCCTCCCAGAACATGCTGGAGTTCAACCTGGCCAGTGAGAAGGTCATCCTCTTCTCAGCCCGAGCGCACCAGGTCAAGACCCTGGTAGATGACTTCATCTTGGAGCTGAAGAAGGTCAGGATCTTCTCACAGATCTTCCCTCCACCCAGGCTGAGGGCCAGCAACAGGGATCTCCCTGTTCCAGGGAAATATGACTGTGTCCATAGATTTCTGTCTACCTTAAGGCCTTTGCACTGGCTGTGCCTTCCACTTGGAATACCCTTTCTCCCTTTTGCCTGCTCCTTCAGAAAACCTTTGCCAGTGCCCCCTGCCGGGTGGCACAGCACCTCCTCTGAGGTCTGCAGCAATTGTACTCCTTACCCTCCTGCCTTGGCTGCATGGCCCGCCCACTGCATCACAATCTCTTTCCATCCCCTCTGCCCACTCCTGACTGGCAGCCCCCAGGCCTAGGGCAGGTCATCTCTGTGCCCCAGGCCCGAGGAAGACTTCAGCAGGAAAGTCTGTGAGGGATTGAGTGGGGAAGGCCTATGTGTGTGCCCTAAAGTCCATCTGTGTCCCTCAGACTCACCCTCCAGCCCTTTCTTCCACCCAGAATGCCCTTCCCTCTTCTCACCTAATGAAGGCTCCCTTCCCTGATGAGTCAGGAAGGATGTGAGGAGCAGGGGTGGCCCTAGGCCTCTGGGAGTGGGGTGATAGGGCTGTTGCCCTCACCCTGCCTCTGGCTGACCCAGGACTCTGACTACGTGGTCGCTGTGAGGAACTTCCTGCCTGAGGACCCTGCGCTGCTGGCTTTCCACAAGGGTGACATCATACACCTGCAGCCCCTAGAGCCACCTCGAGTGGGTCAGTGCCACTGGGGTGGGCTGGGGGCAGGAGGGGGAGGCTGGCCAAGGGGGCCTCCCTGGCAGATGCTGACCCGAGCCTGGCCCATAGGCTACAGTGCTGGCTGCGTGGTTCGCAGGAAGGTGGTGTACCTGGAGGAGCTGCGACGTAGAGGCCCCGACTTTGGTGTGTGCCCCAGAACCTGGAACCCCATACGGGGCGCATCCTAGTTTCACCCACTCGTGGTGCAGATGCACAGTGAGGGTTTCTTGGTGCCCGAAAGTGGCCTGGGCTGGTCAGGTCTCCTAAGGTCCAGCCGTGGCCTGTCAGTATCTGTTGGTGGCCAGACAGCCCAGCCCTCTGCTTTGCCTGAGGGGTCTCCGTGGGCATTTCCATGTTTGTGGCCTGAATCTCTCTTTATGTCTCCACATGACCTGAGAGTCCACAAACCCTGCTTTGCCTTTTTGCTTCACTTCCCCTTTATGGTCCTGTGGCCCTGAGAAAATCCCTTTCTTTCCCTGAGCCTGTTTCCTCATCTGTAAAATGGGTTTGATGGCCTGGCCTGCCTCATAGAGTTCCAGAGAAGGGTTAAGAATGTTCCCAAATCTCCCTAAAGGACCCCCTTAGTCACAAGACAAGACCCTCCTGTTTGCCTCAGACCTTTTACCCACCCCTAGGCTGGAGGTTCGGGACCATCCACGGGCGCGTGGGCCGCTTCCCTTCGGAGCTGGTGCAGCCCGCTGCTGCCCCCGACTTCCTGCAGCTGCCAACGGAGCCAGGCCGCGGCCGAGCAGCCGCCGTGGCCGCTGCTGTGGCCTCTGCAGCCGCTGCACAGGAGGTGGGCCGCAGGAGAGAGGTGAGACCAGTGTGGGTGGGGTGGGGCGGGGTAGACCAGGGGGAAGGGGCCGCTGCAGAAGGGGTGAGGCGAGTGGGGATAAGGTGGGCCAAGGGCCTGGCCAGGCTCTTGGGGCGTGGCTGATCTTGGACTAGTGTGAGGGTGAACCAGGTAGAGTGAGCCGCAGGTGAGACCCGGGAGATGGGACCAGAGATGGTTGGAGGTGTGGCCAAATGGGGTAGGGAAGGATGAAGATCAGCTGGTTGTAATCAGGACAATGGGGTCAGACCAGCCGGGGCCCGCCAGTTGGTGAAGTCTACTGGGTTTGGGGCGGTGCCAGGTGAGTGGGCGGCTTGTGGAGCTAGCGAGG 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Task1_train_23867 | A variant on Chromosome 17 in gene LOC130060418, MYO15A (ATAC-STARR-seq lymphoblastoid active region 11828| myosin XVA) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 3 | TCCCTCATCGAACTCAGCGACAGCAGCCTCAGCAAGATGGCCACCGACATGTTCCTAGGTGTGGGAGTGGGACTGCAGCCAGGGCTCTGGGCTAGGTGGGATCCAGCACTGTGTGATCTCTACTGGTTGCCACTCCTCCCTGATCTTCAGATTCTTTCCCTCCCGCCAGCTCAGACATGGAACACATTTAAGAGAATAGAAGCTCCCAGCTGCCTGTGGCCAAGGCTCCCAGGGAGGGGCTCAGCCCTGGGGCTTCCTGGGGTGGGTGGGCAACTGGGGGTTTGGTGGGTCTGAGTGGGATAGGTCTTTCCTACAGCTGTAATGAGGTTCATGGGGGATGCCCCACTGAAGGGCCAGAGTGACCTGGACGTGCTTTGTAACCTCCTGAAGGTCAGTCCAGCCAACTTTGCCAGATGCCCCCTTTCCTGCTCTGTGGTTCAGTTTCCCCATCTATCAATGAGTCACAGGACATTAGGGTGGGAAACCTCTCCCATGGTCCAAAGAGGAATGCATCATGCTGGTGGGGAGGGGGCTGGGAAAGGGACACCAGGCCTGTCTTCAGGTGCCCACCCTGTTCTTATGTACCTGGTATATGACATAGCCCCTCACATGTCTTTGGTGTGTAACCTCCCTGCCCCCCTTCAGCTGTGCGGGGACCATGAGGTCATGCGGGATGAATGTTACTGCCAAGTTGTGAAGCAGATCACAGACAATACCAGCTCCAAGCAGTGAGTGAACTGGACTTTACCCCACCATCCCCTCACTGTGTCCATGCTCCAGGAGGGACCAGTTCAGCCTCCCACCTCCTCAGGCCTGACCCCTCCTGGATTATCTTCCTCTCACCCTCATCCTCACTCAATAGAGCACGTTTTTTGGAATTACTTGGTCTGGAACACACCATTTCTGCTCTCTGAACTTTAGTGCCCTCATCTGTAAAATGACAGTGATAATGTGTAAGTCCAGATTCTTAGTTGCAAGTGACAGAAACCCAACTCAATCTGGTTTAGCCAAAAGGGAACTTGTTGATTCAGAGAAGTGAAAAGTCAGTGAGTATGTGGCCTCAGGCATAGCTGGATCCAGGTGTCATCAGGAAGCAGGCTTTCTCCATCTTCTGGCTCTGCTTTCCTCTGTGTTGATCATTCCCAAACAGCCTCTCGCACAGAGTAGCAAGGTGGCAGGTCTGGGGCAACAGCTCAGCAATCCCAGAGAAAGCAAGACTGACCCAATATTTGCTGTAGAAATTCTTAAATCCAGCCTTACAGGCCTGAGTTGGTCACATGCTCAACCCTGAACCAACTATGCCTATCCCTGGGCCAATCACTGTGGCCAGGGGCTGCGGTGTTCACATTGACCAAACCTGACTTCCATGCCCATCTCCAAACCACAGGGATCCAGAGCGGGGTGGGTGGTTTCCCAAAGGAAGCCCAAGTGTTGTTCCCAGACACCAGATATCCCTACAAATGAAACCCTCACACCCAGGACCATGTGAAGATGAATTACTGTGTTCCACTCATGCAGGGCCAGCACACAGTACGTGCCCAATGTGTGCATGCTCTTGTTACCATCAGGTCCACCCTCCTGTCTCCATCTGTACTACCTCCTCACTTGCTCTCCATCTCCTCAGGATTTTTAGAACCACTCAGCTTGTCCTCCTGCTCCTCCCAGCCCTGGGCCTTACCTGGCATGACCTCTACACAGTCTCAGCAGCTTCCCCTTTTCCCAGAAGCCTCCCTAGAGAGATCCCCTACCTGTTGTGAGGCAGAGAAGAGAAGAATAGGAGAGGAAAGAGTCGCAGTGCTTCCCCTACCTGGGGAAGATGTCTGGGGCCCCATCCCCTTCTGTCCCTATCCCCAATCCTGACTTCCCAAGCAGAATATGCCTTTTGCATATCACTGCGCAGGGAGGGGCATCCTCAGGGGACAGGAGCTGCCTGAGAGTTGGAATCTGTCTCAGCTCAATCCCAGGAGGCTCTTGGCACACTCTAGTGCTGTGGCCACCTCTGCTGTAGCCCCCATGTGTCCTTGCAGGGACAGCTGCCAGCGAGGCTGGAGGCTGCTGTATATCGTGACCGCCTACCACAGCTGCTCTGAGGTCCTCCACCCACACCTCACTCGCTTCCTCCAAGACGTGAGCCGGACCCCAGGCCTGCCCTTTCAGGGTGAGAGGTCAATGAGTGGGAACCCAGGGCTGCATGCTTCTCCCTTGGGGACTGGGTGGACAGCTGGTGGGAGGGGAAACCCAGAGGGCCTCGCTCTTCACAGGTGCTGAGCAATGTTTACCAATATTAATATACTCCCCAAACATTTGTTAAGGTTTCACAGGGGCTGGCGTGGTGGTTTGTCTGATCTAATGGAGGGGGTGGTCAGGGATGACTCCTTGGAGGAAGTATTGCCCTGGGTAGGAGGGATTTCCAGGTGGAGTGAGTGACAGGAGCAAAGACAGGAGTGGGAATATGTGGTACGTGGGAGAAGAGAAGGAGGTGGGCAAGAATCCAGAGTACTGGGGTGCGGCCCTGCCTCTCTGACTGTTGGGACTCAGCAAGGGTCTTGAGGGATCTGGGCAGAGGTGGGCCCAAGCTGGTATCATCCCCCTTAGAATATGGAGAAAGGGGGGGCCACTCTTCAGCGTTGTTTCCATAGCAACCCCTGGGGCTCCCTAAGAAGGAGGCTGGGGCCCCTGTAGTCACCATGGCAGCCGTGGAGGAGATAGGAGACCTTACCCTTCCTGCCTCTGAATGCTTCTCTCTGATTCAATTAACAAACATTCAACCCACAGATGAATAGACCCAGCTCCCTATGGAAGAGCTCCCAGATGCATAAAAGCAGCAGAATGTGCCCTAGAACTCTTGACTCAAGAGAAATGGAGCACTGATGCTGGGGTCTCCTGCACTGGGAGGCCTGGGTGAGGGAGGGCAGCTGGCAGGGTATCCCAGCTGGCATGAGCAGAGCTGCATCACCCTAGCCACAGAGCCTGTGAGATACAAGCTCCCCAGTCAGCAGCTCAGGGTGACAGCGGTTTCCAGGCGTATAGGTTGCCAAGGGGACTATGGGCTAGATAAAAGGTCCTTAGCCACATGGGATGTGGGTTCAAATCCAGCTCTTAACCTCTAGCTCTTGACCTTGGGCAAGTCACTGTCCCTGTCTGAACTGTTTCCTCAACTGTCAAATGGGGGAGTAAATGCCTTCCCCACAGCTTGTGGAGAGAATGCAGTGGGCTCATGGTTGGTGGCAAGAGGAGCGAGCCCCTTTCTCCCACAGTCCACCTTGGGCGAGGCCTGAACTCCCTGCTTCTGCAGGGATCGCCAAGGCCTGCGAGCAGAACCTGCAGAAAACCTTGCGCTTCGGAGGTCGTCTGGAGCTCCCCAGCAGCATAGAGCTTCGGGCCATGTTGGTGAGCATAGGGTGGGAGTGGGTTCAAAATGAATGGGAGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATTACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCATTCCAGCCTGGGTGACAGAGCGAGACTCCATGTCAAAAAACAAAAACAAACACACACAAAAAAATGAATGGGAGACACAAGCCCTGCCCAGAGACCTCTCTGTCAGGTGCATTGCACTCAGGGGCTTGCAGACAGGCCCTGCGCGGTCCAGGTGCTCAAGTGTTCCTACACGTGCCAGCCCAGGATCCTTTGGCTTGGGAACTCCCAGGGCAGGAGACAAGGGCTGTCCCAGATCCTAGGACCCAACCTGTCATCCCTCTCCCACCTATCTACCCCAGGCAGGCCGCAGTTCCAAGAGGCAACTCTTTCTTCTTCCTGGAGGCCTTGAACGCCATCTCAAAATCAAAACATGCACTGTAAGTGAAGAAATGTCTCCTGCAGCCAGGTACTGGAGGGGCAGGGACAAGGACAGCCCAGGCT 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TCCCTCATCGAACTCAGCGACAGCAGCCTCAGCAAGATGGCCACCGACATGTTCCTAGGTGTGGGAGTGGGACTGCAGCCAGGGCTCTGGGCTAGGTGGGATCCAGCACTGTGTGATCTCTACTGGTTGCCACTCCTCCCTGATCTTCAGATTCTTTCCCTCCCGCCAGCTCAGACATGGAACACATTTAAGAGAATAGAAGCTCCCAGCTGCCTGTGGCCAAGGCTCCCAGGGAGGGGCTCAGCCCTGGGGCTTCCTGGGGTGGGTGGGCAACTGGGGGTTTGGTGGGTCTGAGTGGGATAGGTCTTTCCTACAGCTGTAATGAGGTTCATGGGGGATGCCCCACTGAAGGGCCAGAGTGACCTGGACGTGCTTTGTAACCTCCTGAAGGTCAGTCCAGCCAACTTTGCCAGATGCCCCCTTTCCTGCTCTGTGGTTCAGTTTCCCCATCTATCAATGAGTCACAGGACATTAGGGTGGGAAACCTCTCCCATGGTCCAAAGAGGAATGCATCATGCTGGTGGGGAGGGGGCTGGGAAAGGGACACCAGGCCTGTCTTCAGGTGCCCACCCTGTTCTTATGTACCTGGTATATGACATAGCCCCTCACATGTCTTTGGTGTGTAACCTCCCTGCCCCCCTTCAGCTGTGCGGGGACCATGAGGTCATGCGGGATGAATGTTACTGCCAAGTTGTGAAGCAGATCACAGACAATACCAGCTCCAAGCAGTGAGTGAACTGGACTTTACCCCACCATCCCCTCACTGTGTCCATGCTCCAGGAGGGACCAGTTCAGCCTCCCACCTCCTCAGGCCTGACCCCTCCTGGATTATCTTCCTCTCACCCTCATCCTCACTCAATAGAGCACGTTTTTTGGAATTACTTGGTCTGGAACACACCATTTCTGCTCTCTGAACTTTAGTGCCCTCATCTGTAAAATGACAGTGATAATGTGTAAGTCCAGATTCTTAGTTGCAAGTGACAGAAACCCAACTCAATCTGGTTTAGCCAAAAGGGAACTTGTTGATTCAGAGAAGTGAAAAGTCAGTGAGTATGTGGCCTCAGGCATAGCTGGATCCAGGTGTCATCAGGAAGCAGGCTTTCTCCATCTTCTGGCTCTGCTTTCCTCTGTGTTGATCATTCCCAAACAGCCTCTCGCACAGAGTAGCAAGGTGGCAGGTCTGGGGCAACAGCTCAGCAATCCCAGAGAAAGCAAGACTGACCCAATATTTGCTGTAGAAATTCTTAAATCCAGCCTTACAGGCCTGAGTTGGTCACATGCTCAACCCTGAACCAACTATGCCTATCCCTGGGCCAATCACTGTGGCCAGGGGCTGCGGTGTTCACATTGACCAAACCTGACTTCCATGCCCATCTCCAAACCACAGGGATCCAGAGCGGGGTGGGTGGTTTCCCAAAGGAAGCCCAAGTGTTGTTCCCAGACACCAGATATCCCTACAAATGAAACCCTCACACCCAGGACCATGTGAAGATGAATTACTGTGTTCCACTCATGCAGGGCCAGCACACAGTACGTGCCCAATGTGTGCATGCTCTTGTTACCATCAGGTCCACCCTCCTGTCTCCATCTGTACTACCTCCTCACTTGCTCTCCATCTCCTCAGGATTTTTAGAACCACTCAGCTTGTCCTCCTGCTCCTCCCAGCCCTGGGCCTTACCTGGCATGACCTCTACACAGTCTCAGCAGCTTCCCCTTTTCCCAGAAGCCTCCCTAGAGAGATCCCCTACCTGTTGTGAGGCAGAGAAGAGAAGAATAGGAGAGGAAAGAGTCGCAGTGCTTCCCCTACCTGGGGAAGATGTCTGGGGCCCCATCCCCTTCTGTCCCTATCCCCAATCCTGACTTCCCAAGCAGAATATGCCTTTTGCATATCACTGCGCAGGGAGGGGCATCCTCAGGGGACAGGAGCTGCCTGAGAGTTGGAATCTGTCTCAGCTCAATCCCAGGAGGCTCTTGGCACACTCTAGTGCTGTGGCCACCTCTGCTGTAGCCCCCATGTGTCCTTGCAGGGACAGCTGCCAGCGAGGCTGCAGGCTGCTGTATATCGTGACCGCCTACCACAGCTGCTCTGAGGTCCTCCACCCACACCTCACTCGCTTCCTCCAAGACGTGAGCCGGACCCCAGGCCTGCCCTTTCAGGGTGAGAGGTCAATGAGTGGGAACCCAGGGCTGCATGCTTCTCCCTTGGGGACTGGGTGGACAGCTGGTGGGAGGGGAAACCCAGAGGGCCTCGCTCTTCACAGGTGCTGAGCAATGTTTACCAATATTAATATACTCCCCAAACATTTGTTAAGGTTTCACAGGGGCTGGCGTGGTGGTTTGTCTGATCTAATGGAGGGGGTGGTCAGGGATGACTCCTTGGAGGAAGTATTGCCCTGGGTAGGAGGGATTTCCAGGTGGAGTGAGTGACAGGAGCAAAGACAGGAGTGGGAATATGTGGTACGTGGGAGAAGAGAAGGAGGTGGGCAAGAATCCAGAGTACTGGGGTGCGGCCCTGCCTCTCTGACTGTTGGGACTCAGCAAGGGTCTTGAGGGATCTGGGCAGAGGTGGGCCCAAGCTGGTATCATCCCCCTTAGAATATGGAGAAAGGGGGGGCCACTCTTCAGCGTTGTTTCCATAGCAACCCCTGGGGCTCCCTAAGAAGGAGGCTGGGGCCCCTGTAGTCACCATGGCAGCCGTGGAGGAGATAGGAGACCTTACCCTTCCTGCCTCTGAATGCTTCTCTCTGATTCAATTAACAAACATTCAACCCACAGATGAATAGACCCAGCTCCCTATGGAAGAGCTCCCAGATGCATAAAAGCAGCAGAATGTGCCCTAGAACTCTTGACTCAAGAGAAATGGAGCACTGATGCTGGGGTCTCCTGCACTGGGAGGCCTGGGTGAGGGAGGGCAGCTGGCAGGGTATCCCAGCTGGCATGAGCAGAGCTGCATCACCCTAGCCACAGAGCCTGTGAGATACAAGCTCCCCAGTCAGCAGCTCAGGGTGACAGCGGTTTCCAGGCGTATAGGTTGCCAAGGGGACTATGGGCTAGATAAAAGGTCCTTAGCCACATGGGATGTGGGTTCAAATCCAGCTCTTAACCTCTAGCTCTTGACCTTGGGCAAGTCACTGTCCCTGTCTGAACTGTTTCCTCAACTGTCAAATGGGGGAGTAAATGCCTTCCCCACAGCTTGTGGAGAGAATGCAGTGGGCTCATGGTTGGTGGCAAGAGGAGCGAGCCCCTTTCTCCCACAGTCCACCTTGGGCGAGGCCTGAACTCCCTGCTTCTGCAGGGATCGCCAAGGCCTGCGAGCAGAACCTGCAGAAAACCTTGCGCTTCGGAGGTCGTCTGGAGCTCCCCAGCAGCATAGAGCTTCGGGCCATGTTGGTGAGCATAGGGTGGGAGTGGGTTCAAAATGAATGGGAGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATTACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCATTCCAGCCTGGGTGACAGAGCGAGACTCCATGTCAAAAAACAAAAACAAACACACACAAAAAAATGAATGGGAGACACAAGCCCTGCCCAGAGACCTCTCTGTCAGGTGCATTGCACTCAGGGGCTTGCAGACAGGCCCTGCGCGGTCCAGGTGCTCAAGTGTTCCTACACGTGCCAGCCCAGGATCCTTTGGCTTGGGAACTCCCAGGGCAGGAGACAAGGGCTGTCCCAGATCCTAGGACCCAACCTGTCATCCCTCTCCCACCTATCTACCCCAGGCAGGCCGCAGTTCCAAGAGGCAACTCTTTCTTCTTCCTGGAGGCCTTGAACGCCATCTCAAAATCAAAACATGCACTGTAAGTGAAGAAATGTCTCCTGCAGCCAGGTACTGGAGGGGCAGGGACAAGGACAGCCCAGGCT 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Task1_train_23868 | A sequence alteration has been identified in MYO15A (myosin XVA) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 3 | CCTATCCCTGGGCCAATCACTGTGGCCAGGGGCTGCGGTGTTCACATTGACCAAACCTGACTTCCATGCCCATCTCCAAACCACAGGGATCCAGAGCGGGGTGGGTGGTTTCCCAAAGGAAGCCCAAGTGTTGTTCCCAGACACCAGATATCCCTACAAATGAAACCCTCACACCCAGGACCATGTGAAGATGAATTACTGTGTTCCACTCATGCAGGGCCAGCACACAGTACGTGCCCAATGTGTGCATGCTCTTGTTACCATCAGGTCCACCCTCCTGTCTCCATCTGTACTACCTCCTCACTTGCTCTCCATCTCCTCAGGATTTTTAGAACCACTCAGCTTGTCCTCCTGCTCCTCCCAGCCCTGGGCCTTACCTGGCATGACCTCTACACAGTCTCAGCAGCTTCCCCTTTTCCCAGAAGCCTCCCTAGAGAGATCCCCTACCTGTTGTGAGGCAGAGAAGAGAAGAATAGGAGAGGAAAGAGTCGCAGTGCTTCCCCTACCTGGGGAAGATGTCTGGGGCCCCATCCCCTTCTGTCCCTATCCCCAATCCTGACTTCCCAAGCAGAATATGCCTTTTGCATATCACTGCGCAGGGAGGGGCATCCTCAGGGGACAGGAGCTGCCTGAGAGTTGGAATCTGTCTCAGCTCAATCCCAGGAGGCTCTTGGCACACTCTAGTGCTGTGGCCACCTCTGCTGTAGCCCCCATGTGTCCTTGCAGGGACAGCTGCCAGCGAGGCTGGAGGCTGCTGTATATCGTGACCGCCTACCACAGCTGCTCTGAGGTCCTCCACCCACACCTCACTCGCTTCCTCCAAGACGTGAGCCGGACCCCAGGCCTGCCCTTTCAGGGTGAGAGGTCAATGAGTGGGAACCCAGGGCTGCATGCTTCTCCCTTGGGGACTGGGTGGACAGCTGGTGGGAGGGGAAACCCAGAGGGCCTCGCTCTTCACAGGTGCTGAGCAATGTTTACCAATATTAATATACTCCCCAAACATTTGTTAAGGTTTCACAGGGGCTGGCGTGGTGGTTTGTCTGATCTAATGGAGGGGGTGGTCAGGGATGACTCCTTGGAGGAAGTATTGCCCTGGGTAGGAGGGATTTCCAGGTGGAGTGAGTGACAGGAGCAAAGACAGGAGTGGGAATATGTGGTACGTGGGAGAAGAGAAGGAGGTGGGCAAGAATCCAGAGTACTGGGGTGCGGCCCTGCCTCTCTGACTGTTGGGACTCAGCAAGGGTCTTGAGGGATCTGGGCAGAGGTGGGCCCAAGCTGGTATCATCCCCCTTAGAATATGGAGAAAGGGGGGGCCACTCTTCAGCGTTGTTTCCATAGCAACCCCTGGGGCTCCCTAAGAAGGAGGCTGGGGCCCCTGTAGTCACCATGGCAGCCGTGGAGGAGATAGGAGACCTTACCCTTCCTGCCTCTGAATGCTTCTCTCTGATTCAATTAACAAACATTCAACCCACAGATGAATAGACCCAGCTCCCTATGGAAGAGCTCCCAGATGCATAAAAGCAGCAGAATGTGCCCTAGAACTCTTGACTCAAGAGAAATGGAGCACTGATGCTGGGGTCTCCTGCACTGGGAGGCCTGGGTGAGGGAGGGCAGCTGGCAGGGTATCCCAGCTGGCATGAGCAGAGCTGCATCACCCTAGCCACAGAGCCTGTGAGATACAAGCTCCCCAGTCAGCAGCTCAGGGTGACAGCGGTTTCCAGGCGTATAGGTTGCCAAGGGGACTATGGGCTAGATAAAAGGTCCTTAGCCACATGGGATGTGGGTTCAAATCCAGCTCTTAACCTCTAGCTCTTGACCTTGGGCAAGTCACTGTCCCTGTCTGAACTGTTTCCTCAACTGTCAAATGGGGGAGTAAATGCCTTCCCCACAGCTTGTGGAGAGAATGCAGTGGGCTCATGGTTGGTGGCAAGAGGAGCGAGCCCCTTTCTCCCACAGTCCACCTTGGGCGAGGCCTGAACTCCCTGCTTCTGCAGGGATCGCCAAGGCCTGCGAGCAGAACCTGCAGAAAACCTTGCGCTTCGGAGGTCGTCTGGAGCTCCCCAGCAGCATAGAGCTTCGGGCCATGTTGGTGAGCATAGGGTGGGAGTGGGTTCAAAATGAATGGGAGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATTACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCATTCCAGCCTGGGTGACAGAGCGAGACTCCATGTCAAAAAACAAAAACAAACACACACAAAAAAATGAATGGGAGACACAAGCCCTGCCCAGAGACCTCTCTGTCAGGTGCATTGCACTCAGGGGCTTGCAGACAGGCCCTGCGCGGTCCAGGTGCTCAAGTGTTCCTACACGTGCCAGCCCAGGATCCTTTGGCTTGGGAACTCCCAGGGCAGGAGACAAGGGCTGTCCCAGATCCTAGGACCCAACCTGTCATCCCTCTCCCACCTATCTACCCCAGGCAGGCCGCAGTTCCAAGAGGCAACTCTTTCTTCTTCCTGGAGGCCTTGAACGCCATCTCAAAATCAAAACATGCACTGTAAGTGAAGAAATGTCTCCTGCAGCCAGGTACTGGAGGGGCAGGGACAAGGACAGCCCAGGCTCCAGGATGGGGGTGGAGTAAGCCCCCAATGATGCTGAGCCCTCCCAGGCTCTCCCACAGCCCCACAAGGCAGGACTTATTTCTCAGAAGAGCAAACTGCACCTCAGAGAGGTTAAGCCTCTGGCTCAGGGTCATCCTGCAAAAAAGGGACAGAAGCAGATTTTAAACCTAAGTCTCAGACCACAAGCTGTGTTCTTTCCCTGCCTGAGGCTGATTCTCAGAGACCTCAGAGGATTGTGCGCCTTTGTGAAGAGGGCTGAGGAACTCCACACATGGCCTCTGGGGGCCTGAGTGGGGCCAGAAGGACAGAGGTCAAGCCCAACTGGCATGGCCTCATCTCTTCCGCCCCACCCCCAGGTGGCCCTGGACGTGGTGGAAGAGATATGTGCTGAGATGGCTCTGACACGCCCTGAGGCCTTCAATGAATATGTTATCTTCGTTGTCACCAACCGTGGTGAGTGCCAGGAAGACTGAGCATGCTGGGCCCATTCCCATCCCCGGGCCTTGTGCCATGTGGGGCCCTCCACCCAGATTTTAGGGCCCAAGTCAGGTGCCACTTCCTCCAGGAAGCCCCTTGACCCCCATGTGGAAGGATCTCTGTGTGTACCAAGCACGCCCAGCCCTTTATCTGTCCCTTTCTGCTTTGCTTAGTTTGCCTCACCTTATGATGAGAGCCCTCTCTCATCCCTCCCTTTGTCCCTCAGGACATGCTCAATGTGAGGACACAGGCCGTGCCCTCAAGGAGATTACATCCTGGAAAGGTTTCCATTAATAGCGCCGCATATTATGGAACCTATAGGAACCTATAGGTGCAAGCCTTCTTTCCTGCCTTTCATGCCTTAATAATGGCCAGAGAAGCCCCTCCCGAGGTGTCACTAGCCCCTCTCGAGGGCTCCTGGGACCCTAGGTGACCGTCATGCATCCCAAAGCCCCTTCCATCTGCTGACTGCCCACTCTAGATCATGGTCTTCCCTCCTGTCACCAGCTGGTCAGCTCCAGCAACCCCCAGCCAGCTCTCCCTACTGCTGCCTCAGTCCTCAGCCATGTGCCATCAGCCCTGCCTGCCCAAGTCCAGCTAAGACATTAGGGGAGAATGGCAGGTAACAAAACGGTCCTAATAACTGATATTTATTGAACGGATGCTGTGCCCCAGGTATAATTCAAAGCATTTCAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCTCTTGAGGCCAGGAGTTTCAGGGCAGCCTGGCCAACATGGCGAAGCCCCATCTCTACTAAAAATTAG 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CCTATCCCTGGGCCAATCACTGTGGCCAGGGGCTGCGGTGTTCACATTGACCAAACCTGACTTCCATGCCCATCTCCAAACCACAGGGATCCAGAGCGGGGTGGGTGGTTTCCCAAAGGAAGCCCAAGTGTTGTTCCCAGACACCAGATATCCCTACAAATGAAACCCTCACACCCAGGACCATGTGAAGATGAATTACTGTGTTCCACTCATGCAGGGCCAGCACACAGTACGTGCCCAATGTGTGCATGCTCTTGTTACCATCAGGTCCACCCTCCTGTCTCCATCTGTACTACCTCCTCACTTGCTCTCCATCTCCTCAGGATTTTTAGAACCACTCAGCTTGTCCTCCTGCTCCTCCCAGCCCTGGGCCTTACCTGGCATGACCTCTACACAGTCTCAGCAGCTTCCCCTTTTCCCAGAAGCCTCCCTAGAGAGATCCCCTACCTGTTGTGAGGCAGAGAAGAGAAGAATAGGAGAGGAAAGAGTCGCAGTGCTTCCCCTACCTGGGGAAGATGTCTGGGGCCCCATCCCCTTCTGTCCCTATCCCCAATCCTGACTTCCCAAGCAGAATATGCCTTTTGCATATCACTGCGCAGGGAGGGGCATCCTCAGGGGACAGGAGCTGCCTGAGAGTTGGAATCTGTCTCAGCTCAATCCCAGGAGGCTCTTGGCACACTCTAGTGCTGTGGCCACCTCTGCTGTAGCCCCCATGTGTCCTTGCAGGGACAGCTGCCAGCGAGGCTGGAGGCTGCTGTATATCGTGACCGCCTACCACAGCTGCTCTGAGGTCCTCCACCCACACCTCACTCGCTTCCTCCAAGACGTGAGCCGGACCCCAGGCCTGCCCTTTCAGGGTGAGAGGTCAATGAGTGGGAACCCAGGGCTGCATGCTTCTCCCTTGGGGACTGGGTGGACAGCTGGTGGGAGGGGAAACCCAGAGGGCCTCGCTCTTCACAGGTGCTGAGCAATGTTTACCAATATTAATATACTCCCCAAACATTTGTTAAGGTTTCACAGGGGCTGGCGTGGTGGTTTGTCTGATCTAATGGAGGGGGTGGTCAGGGATGACTCCTTGGAGGAAGTATTGCCCTGGGTAGGAGGGATTTCCAGGTGGAGTGAGTGACAGGAGCAAAGACAGGAGTGGGAATATGTGGTACGTGGGAGAAGAGAAGGAGGTGGGCAAGAATCCAGAGTACTGGGGTGCGGCCCTGCCTCTCTGACTGTTGGGACTCAGCAAGGGTCTTGAGGGATCTGGGCAGAGGTGGGCCCAAGCTGGTATCATCCCCCTTAGAATATGGAGAAAGGGGGGGCCACTCTTCAGCGTTGTTTCCATAGCAACCCCTGGGGCTCCCTAAGAAGGAGGCTGGGGCCCCTGTAGTCACCATGGCAGCCGTGGAGGAGATAGGAGACCTTACCCTTCCTGCCTCTGAATGCTTCTCTCTGATTCAATTAACAAACATTCAACCCACAGATGAATAGACCCAGCTCCCTATGGAAGAGCTCCCAGATGCATAAAAGCAGCAGAATGTGCCCTAGAACTCTTGACTCAAGAGAAATGGAGCACTGATGCTGGGGTCTCCTGCACTGGGAGGCCTGGGTGAGGGAGGGCAGCTGGCAGGGTATCCCAGCTGGCATGAGCAGAGCTGCATCACCCTAGCCACAGAGCCTGTGAGATACAAGCTCCCCAGTCAGCAGCTCAGGGTGACAGCGGTTTCCAGGCGTATAGGTTGCCAAGGGGACTATGGGCTAGATAAAAGGTCCTTAGCCACATGGGATGTGGGTTCAAATCCAGCTCTTAACCTCTAGCTCTTGACCTTGGGCAAGTCACTGTCCCTGTCTGAACTGTTTCCTCAACTGTCAAATGGGGGAGTAAATGCCTTCCCCACAGCTTGTGGAGAGAATGCAGTGGGCTCATGGTTGGTGGCAAGAGGAGCGAGCCCCTTTCTCCCACAGTCCACCTTGGGCGAGGCCTGAACTCCCTGCTTCTGCAGGGATCGCCAAGGCCTGCGAGCAGAACCTGCAGAAAACCTTGCGCTTCGGAGGTCATCTGGAGCTCCCCAGCAGCATAGAGCTTCGGGCCATGTTGGTGAGCATAGGGTGGGAGTGGGTTCAAAATGAATGGGAGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATTACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCATTCCAGCCTGGGTGACAGAGCGAGACTCCATGTCAAAAAACAAAAACAAACACACACAAAAAAATGAATGGGAGACACAAGCCCTGCCCAGAGACCTCTCTGTCAGGTGCATTGCACTCAGGGGCTTGCAGACAGGCCCTGCGCGGTCCAGGTGCTCAAGTGTTCCTACACGTGCCAGCCCAGGATCCTTTGGCTTGGGAACTCCCAGGGCAGGAGACAAGGGCTGTCCCAGATCCTAGGACCCAACCTGTCATCCCTCTCCCACCTATCTACCCCAGGCAGGCCGCAGTTCCAAGAGGCAACTCTTTCTTCTTCCTGGAGGCCTTGAACGCCATCTCAAAATCAAAACATGCACTGTAAGTGAAGAAATGTCTCCTGCAGCCAGGTACTGGAGGGGCAGGGACAAGGACAGCCCAGGCTCCAGGATGGGGGTGGAGTAAGCCCCCAATGATGCTGAGCCCTCCCAGGCTCTCCCACAGCCCCACAAGGCAGGACTTATTTCTCAGAAGAGCAAACTGCACCTCAGAGAGGTTAAGCCTCTGGCTCAGGGTCATCCTGCAAAAAAGGGACAGAAGCAGATTTTAAACCTAAGTCTCAGACCACAAGCTGTGTTCTTTCCCTGCCTGAGGCTGATTCTCAGAGACCTCAGAGGATTGTGCGCCTTTGTGAAGAGGGCTGAGGAACTCCACACATGGCCTCTGGGGGCCTGAGTGGGGCCAGAAGGACAGAGGTCAAGCCCAACTGGCATGGCCTCATCTCTTCCGCCCCACCCCCAGGTGGCCCTGGACGTGGTGGAAGAGATATGTGCTGAGATGGCTCTGACACGCCCTGAGGCCTTCAATGAATATGTTATCTTCGTTGTCACCAACCGTGGTGAGTGCCAGGAAGACTGAGCATGCTGGGCCCATTCCCATCCCCGGGCCTTGTGCCATGTGGGGCCCTCCACCCAGATTTTAGGGCCCAAGTCAGGTGCCACTTCCTCCAGGAAGCCCCTTGACCCCCATGTGGAAGGATCTCTGTGTGTACCAAGCACGCCCAGCCCTTTATCTGTCCCTTTCTGCTTTGCTTAGTTTGCCTCACCTTATGATGAGAGCCCTCTCTCATCCCTCCCTTTGTCCCTCAGGACATGCTCAATGTGAGGACACAGGCCGTGCCCTCAAGGAGATTACATCCTGGAAAGGTTTCCATTAATAGCGCCGCATATTATGGAACCTATAGGAACCTATAGGTGCAAGCCTTCTTTCCTGCCTTTCATGCCTTAATAATGGCCAGAGAAGCCCCTCCCGAGGTGTCACTAGCCCCTCTCGAGGGCTCCTGGGACCCTAGGTGACCGTCATGCATCCCAAAGCCCCTTCCATCTGCTGACTGCCCACTCTAGATCATGGTCTTCCCTCCTGTCACCAGCTGGTCAGCTCCAGCAACCCCCAGCCAGCTCTCCCTACTGCTGCCTCAGTCCTCAGCCATGTGCCATCAGCCCTGCCTGCCCAAGTCCAGCTAAGACATTAGGGGAGAATGGCAGGTAACAAAACGGTCCTAATAACTGATATTTATTGAACGGATGCTGTGCCCCAGGTATAATTCAAAGCATTTCAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCTCTTGAGGCCAGGAGTTTCAGGGCAGCCTGGCCAACATGGCGAAGCCCCATCTCTACTAAAAATTAG 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Task1_train_23869 | This sequence variant lies in TOP3A (DNA topoisomerase III alpha) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | TCTAACAAGGGGTGAGATGGGGGCTACGCGCTAATAATTTACAATACTTAGGATTATTTTTTGATAGGGTCTCACTTTCTCACCAGGCTGGAGTGTGGTGGTGTGATTACGGCTCACTGCAGCCTCAACCTCCTGCCTCCTGGGATCAAGTAATCCTCCTTCCTCAGCCTTACTAGTAGCTGGGACTATAGGCATACATCACCATGCCTGGTTAAATTTTTTTTTTTTTTTGAGAGATAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAATTCCTGGAGTTCATGTGATCCTGCCTTGGCCCCACAAATTGCTGGGATTACAGGCATAAACCACCATGTCCAGCCTTTATTCCTAGGATTTAAACAACTACCATTCATAAAAAAAGTTTACTTCAGTCCCTTGGCCACTTAGCCACATTTATACAATGGGTGGGAACCAGCTTTTTAAATCATGGTAGTGACTTTGGTGGAAAACCTTATCTCCAAATGCCAATGCATTAAAAACAAAGAAATCACTCTGTTTGACTCTGTGGTTTGACTCAGTGCCATATGTCTTCCAAAAGACCCTACCTTGATGTCTACAAAATTCTCTGGGCAGTACTTTTCAATTTCTGCTTCAAAGAGGACAAGAGGGTTGCAGCTCTGCCTAGAAAAGAAATGAAAACAGAGTCCCAACTCAGTACATGACAGAGAGCCCTCCAATCTAATGACAGCAAACTGTTCCAATGGGTTCATGGTGTATCCCCAAAAGAAAAGGTCCCGGTGAATTGAAAGTAAGGCTATGACCCTCTGCATGACACACTGTCCACTTCTCCAAGAGTGTGAACAGGACTGATAAGATGGCATTCTGGAGCCCTTTCACAGGTAAATGCAATCCAATGGCTGCATGAAAAAGGTCTGGCAATTTTGAGGAACACCAAAAGTGACTGTTTAAAGATTTAATAAAAATTCACAATGGATCAGATAATCCTAGGTCATCTTAGTATTATAAATTACTGCTGGGCGTGGTAGCTCACGCCTGTAATCCCAGCACGTTGGGAGGCCAAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACTAGCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACGAAAAATTAGCCAAGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGTCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTACAATGAGTCAAGATTGTGCCACTGCACTCCAGCCTAGGCGACAGAATAAAACTCCGTCTCAAAAAATAAATAAAATAAATAAATAAATAAATAAATTACCAAGGCACAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCAAAAGAAGGCAAACCCTGCTTTGTTTAAGACCAGCCTGGGCAACAGGGTGAAACTCCATCTCTACTAAAATAGAAAAAATTAGCTGGGTGTAGTGGCACATGGCTGTAAGGCCAGTTACTTGGGAAACTGAGGCATGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGACGAGATTGCGCCACTGCACTCCAGCCTGGGTAACGCAGCGAGACCCTGACTCAAAAAAAAAAAAAAAAAAAAACCGGGCATGGTGGCTCACGGTCTGTAATCCCAGCACTTCAGGAGGCTGAGGTGGGCAGACCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGTGTGGTGGCACGTGCCTATAGTCCCAGCTACTCGGGAGGGTGAGGCAGGAGAATCACTCGAACCCAGGAGGCAGAGGTTGCTGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGAGACAGAGTCTCACTCTGAAACTTTGTCTCCAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTACCCAGTAAGATCAACATGCCTCAAAATTCCTGTGAAATTTCACAACTTACTATAATCTGAAAGTCCTTCCCTTGAGAATTGTACTGACCATTTTCGAAACTGCATCTGGAAATCATGAGCCAGTAAATGTCCAGAAACTGAAGTCATTACCATGGTAACATTCTGAATGATGACAAAATTCAAAATTCAGTTAGTCTTTTTGCAGTTATTATTCTGCCAAATCATTAAAATGAGAGGGAGGAGCTTCTATTAAAGACATTTTTAAAAACCTGATTGGGAAGAAATAAACATAAATATAAGCTCTTCAAAGCCAAAAGTCACAGGAATACAATCACCATTCTAATGATATGGTGTATAACTGACGCCTCTTGCATCAGTTAAATTTTCCTCAAACTATTGTATATTAGCTTTTTTTTTTTGTAATGAAGAGCTGAGATGGGACCATATTTTATTAAAAAGAGAACTCCTCATAAATTATAAAGTGATCACCCCATATCCAGGAACCTTTAGGTTGTTAACAGTTGTTATTCTTAAGACAGCGACATATTCTACATATGACGAGGCTGACTACTTTCTCTTGCTTATGATTGAAATATTTTAGAAATATTTTAGCACCTACCTGGCCATACAGATGATAATCAAATTCATAGATCTTGTTGAATTTTGAAAGTCCTTCTCTCTATAAAACAAAAATAAGTAAAAAATATAAATTACGTTTAAAACAATGGATTCCTTTGTATAATTCTTTCTGATCCTGAATTTGGCAATGATTTCTTGGTTATGATACCAAAAATATAACCAACATTGCTCCAAAGAAGATAAGAAATGGCCAACAAGCATATGAAAAGATGCTCAATGTTATTAATCATTAGGAAAACACAAATCAAAACCATGATGAGGTACCACTCCATACCCATTAGGATAATAATTAAATAGAATAATAAAAAAAACAAGTAAAATAACAAGTGTTGTTGAGGATGTGGAGAAATTGGACATTGTCAGTGGAAATGTAAAATGCTTTGGCCACTCTGGAAAATGTTGGTGTTTCCTCAAAAAGTTACAGAGTTATCACATGTCACAGCAATTCCACTCCTACAAATTTACCCAAAAGAATTAAAAACGCATTCAAATACACTTTGGGAGGCTGAGACAGTTGGATCACTTTAGGTCAGGAGTCCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAACAATTGGCCAGGTGTGGTGGTGTGTGCCTGTAATCCCAGTTACTTGGGGAGGCTGAGGCAGGAGAATCACTTGAGCCCAGGAGGTGGACGTTGCAGTGAGTGGAGATGGCGCCACTGCACTCTAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAACAAAAAACAAACAAAAAAACACATTCAAACAAAAACTTGTACATGAAAGTCTATAGAAGTTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTGGCTCTGTCGCCCAGGCTGGAGTCCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGAATGTTCTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCGAATGTCTATAGAAGTTCTATTCACAATAGTCAAAAGATGAAAACAACCCAAATGTCCATCAACTGATGTATGGTAAAATGAAATATGATCTATCCATATGATAGAATATTATTCAGCCATAAAAAGGAATGAAGAGGCCAGGTGCAATGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGTGGTTACAATGAGCCGAGATCTCATCACTGCACTCCAGCCTGAGCGACAGTGAGA 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TCTAACAAGGGGTGAGATGGGGGCTACGCGCTAATAATTTACAATACTTAGGATTATTTTTTGATAGGGTCTCACTTTCTCACCAGGCTGGAGTGTGGTGGTGTGATTACGGCTCACTGCAGCCTCAACCTCCTGCCTCCTGGGATCAAGTAATCCTCCTTCCTCAGCCTTACTAGTAGCTGGGACTATAGGCATACATCACCATGCCTGGTTAAATTTTTTTTTTTTTTTGAGAGATAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAATTCCTGGAGTTCATGTGATCCTGCCTTGGCCCCACAAATTGCTGGGATTACAGGCATAAACCACCATGTCCAGCCTTTATTCCTAGGATTTAAACAACTACCATTCATAAAAAAAGTTTACTTCAGTCCCTTGGCCACTTAGCCACATTTATACAATGGGTGGGAACCAGCTTTTTAAATCATGGTAGTGACTTTGGTGGAAAACCTTATCTCCAAATGCCAATGCATTAAAAACAAAGAAATCACTCTGTTTGACTCTGTGGTTTGACTCAGTGCCATATGTCTTCCAAAAGACCCTACCTTGATGTCTACAAAATTCTCTGGGCAGTACTTTTCAATTTCTGCTTCAAAGAGGACAAGAGGGTTGCAGCTCTGCCTAGAAAAGAAATGAAAACAGAGTCCCAACTCAGTACATGACAGAGAGCCCTCCAATCTAATGACAGCAAACTGTTCCAATGGGTTCATGGTGTATCCCCAAAAGAAAAGGTCCCGGTGAATTGAAAGTAAGGCTATGACCCTCTGCATGACACACTGTCCACTTCTCCAAGAGTGTGAACAGGACTGATAAGATGGCATTCTGGAGCCCTTTCACAGGTAAATGCAATCCAATGGCTGCATGAAAAAGGTCTGGCAATTTTGAGGAACACCAAAAGTGACTGTTTAAAGATTTAATAAAAATTCACAATGGATCAGATAATCCTAGGTCATCTTAGTATTATAAATTACTGCTGGGCGTGGTAGCTCACGCCTGTAATCCCAGCACGTTGGGAGGCCAAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACTAGCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACGAAAAATTAGCCAAGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGTCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTACAATGAGTCAAGATTGTGCCACTGCACTCCAGCCTAGGCGACAGAATAAAACTCCGTCTCAAAAAATAAATAAAATAAATAAATAAATAAATAAATTACCAAGGCACAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCAAAAGAAGGCAAACCCTGCTTTGTTTAAGACCAGCCTGGGCAACAGGGTGAAACTCCATCTCTACTAAAATAGAAAAAATTAGCTGGGTGTAGTGGCACATGGCTGTAAGGCCAGTTACTTGGGAAACTGAGGCATGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGACGAGATTGCGCCACTGCACTCCAGCCTGGGTAACGCAGCGAGACCCTGACTCAAAAAAAAAAAAAAAAAAAAACCGGGCATGGTGGCTCACGGTCTGTAATCCCAGCACTTCAGGAGGCTGAGGTGGGCAGACCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGTGTGGTGGCACGTGCCTATAGTCCCAGCTACTCGGGAGGGTGAGGCAGGAGAATCACTCGAACCCAGGAGGCAGAGGTTGCTGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGAGACAGAGTCTCACTCTGAAACTTTGTCTCCAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTACCCAGTAAGATCAACATGCCTCAAAATTCCTGTGAAATTTCACAACTTACTATAATCTGAAAGTCCTTCCCTTGAGAATTGTACTGACCATTTTCGAAACTGCACCTGGAAATCATGAGCCAGTAAATGTCCAGAAACTGAAGTCATTACCATGGTAACATTCTGAATGATGACAAAATTCAAAATTCAGTTAGTCTTTTTGCAGTTATTATTCTGCCAAATCATTAAAATGAGAGGGAGGAGCTTCTATTAAAGACATTTTTAAAAACCTGATTGGGAAGAAATAAACATAAATATAAGCTCTTCAAAGCCAAAAGTCACAGGAATACAATCACCATTCTAATGATATGGTGTATAACTGACGCCTCTTGCATCAGTTAAATTTTCCTCAAACTATTGTATATTAGCTTTTTTTTTTTGTAATGAAGAGCTGAGATGGGACCATATTTTATTAAAAAGAGAACTCCTCATAAATTATAAAGTGATCACCCCATATCCAGGAACCTTTAGGTTGTTAACAGTTGTTATTCTTAAGACAGCGACATATTCTACATATGACGAGGCTGACTACTTTCTCTTGCTTATGATTGAAATATTTTAGAAATATTTTAGCACCTACCTGGCCATACAGATGATAATCAAATTCATAGATCTTGTTGAATTTTGAAAGTCCTTCTCTCTATAAAACAAAAATAAGTAAAAAATATAAATTACGTTTAAAACAATGGATTCCTTTGTATAATTCTTTCTGATCCTGAATTTGGCAATGATTTCTTGGTTATGATACCAAAAATATAACCAACATTGCTCCAAAGAAGATAAGAAATGGCCAACAAGCATATGAAAAGATGCTCAATGTTATTAATCATTAGGAAAACACAAATCAAAACCATGATGAGGTACCACTCCATACCCATTAGGATAATAATTAAATAGAATAATAAAAAAAACAAGTAAAATAACAAGTGTTGTTGAGGATGTGGAGAAATTGGACATTGTCAGTGGAAATGTAAAATGCTTTGGCCACTCTGGAAAATGTTGGTGTTTCCTCAAAAAGTTACAGAGTTATCACATGTCACAGCAATTCCACTCCTACAAATTTACCCAAAAGAATTAAAAACGCATTCAAATACACTTTGGGAGGCTGAGACAGTTGGATCACTTTAGGTCAGGAGTCCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAACAATTGGCCAGGTGTGGTGGTGTGTGCCTGTAATCCCAGTTACTTGGGGAGGCTGAGGCAGGAGAATCACTTGAGCCCAGGAGGTGGACGTTGCAGTGAGTGGAGATGGCGCCACTGCACTCTAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAACAAAAAACAAACAAAAAAACACATTCAAACAAAAACTTGTACATGAAAGTCTATAGAAGTTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTGGCTCTGTCGCCCAGGCTGGAGTCCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGAATGTTCTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCGAATGTCTATAGAAGTTCTATTCACAATAGTCAAAAGATGAAAACAACCCAAATGTCCATCAACTGATGTATGGTAAAATGAAATATGATCTATCCATATGATAGAATATTATTCAGCCATAAAAAGGAATGAAGAGGCCAGGTGCAATGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGTGGTTACAATGAGCCGAGATCTCATCACTGCACTCCAGCCTGAGCGACAGTGAGA 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Task1_train_23870 | This variant impacts the gene B9D1 (B9 domain containing 1) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Familial aplasia of the vermis | ACAGCTGGCTGTCACCAGGGTGGAGACCTTGCCAGGTGAGCATAAACGAAGGATGGAGGGCACTATGGGAAGTGCATGCAGATGACCAAGAGTTCTAAACTGGGCTGGGAGGAAAGCAAGGAAAGAGGGGCTGATGGTTGGCGAAAAGGGGCTGGGCCAGGAGCTTGGAGGGCCTGGTGGTTTGAAGAGCACAGGGAAGCGCCACATGAGGGAGGGCCTGGCCTGAGGGAGGGATGCCTCAATCCAGACTTTGGAGGCAGTGCCTTCACCAGTAACAAGAGATATGCCTGCCTGGCTGTGAGGGGTAGAGGTGAAGACAGACTGTTCCAAGTGAGGAGGTTGAGGAAGAGGCAAGGACACACCCCTGCTCTAGGCTCACCGCACATGGGGAGTGGGAGGAAAAAGATTCCACTTAAGAGGGCTGCAGGGTACTGAGTGGGCTTCAGTAAGGCCAGAAGGCAGAGGGAACTTCCTATTCCGAGAAGATGGAATCACAGGAATTTTGCTGACAACAGACGATGAGTTTCAGAACGCACAGTGAGTTGGGGGGAGGGCACGGGAGTGCTCGTGAGATAAAAGGCAGAAGAGGGTCGGCCCAGATGGTCTCAGGGCAAGTGCCATGACGACAGTCCAGGGCAACATGGGCGAGGCTGGGAGGTGGGGGTTTGCCAGGAGCCTGTGGTTTCTCTTGGATCCCGCTGAGGGCAGTATCTAGGCTGGGGCACCATGTCTGCCGAAAGCTCAGTGGCAGGGCAGAGAGGGCCTGGGGCTGCCTCGTGAGGTGCGAGGGGTTCTTGTGAAGGTGGGGAGGCCCAGGGTCAGGGCCTCCCAAAGTAATGCTGAAGGGGCTCTGCTTCCAGAAGGGCCTGGACAACCTCAGAGGTCAGGGTGTTGAGCCAGGGGGCTCACCTTCCTCTCCTGCCAAGGGGCTGCCAGAAAGCTGGACCCCAGCCAGCGGCCTCCCACCTCTGAGAGGTTTCCAGCCCCCATCCTTGGACTGTGGGTAGGGGGGCAGAGAGGGGAGTGGGCAGGCTGAGGGTCTGCCATCCCCCGGGGTACCTCACCATTCCAGCTCCCAATAACAGGGTTCTGTCCTTGCCAAGGGAGGCTGGTGGCCAGAAGCATGGCTGAACGGGTGATTCTACTTAACCCCAAGCCTCTAAGGAGGGTGCCATGCCCAGTTAGTTCAAGGAACAATGTGTTGCGGTATAGAAAAGGCCACACAGCTTTGAGTGGCAGAACCTGGTTATGTCAAAGCTCCCATCCCACATGCCATCCTGCTGCACGGTCTGGTCTCCTGGCAGCTTCCACGGCACAAGGGGTAGGGACAGGGAGAGCCCTGGAGGTGGGGCCAGGAAAGGCCCAAGAGCCCCCAGCTCCTGTGGGGGAGGGGCTAAACAGGAGAGAAGGCAGCCCCAGGCCTAGGCTCTCTGAAAATGAGACTTTATTATACAAAACTATTCTGTGTGCCCCCAGCTCTGGCCACCAGGCTGCCCCTCAGGCCGATGGGCAGCGGCTGACTTCGGGAAGGCAGCCCTTCATTATCAGAGACTGTGCAGCCTGTGGAGCCTTCACTGGGGGAAGCTCTGGGGTGGGCTGGGCCCCAACACACCCTGTGTATCAGAAGGCCCAGTGTCATAGCCCAGTTTCCTCATGTCCTTGGTCACCACGTTGAAGAGGAGGGTGACAAAGCCCTGAGAACGGACACGGGTCACTGGGGACAGAAGGGCAGCATCAGCCAGGCTGGGCTGGGGCAGAGAGAGACCCAGGTTGATCTGGGAATCTCAGCCTCAGCGTTCTCATCTGTAAAATGGGGACAACAGTGCCTGACCCAAGCCCCTCACTGGGAGGTAAAGGGGCTGCCGGGACAGGCAGACATGACAAACCCTCTGTGCTCCAACCAGGCCCTCATCTGGGAACATTTGTGGGCTAGCTCCTATGTGCCTGGCAGGTCCCCGGCATTCACCCCAACCCTGGGCCCACCCACTCCCAGGCTGTAACCTGTATGGGGGATGGGGGTAAGAGAGGGGAGGGAGCTTTACCTTCCCGGCCTTCACCCTGAGCCACCACCTTGGGGTCTGTGTACTCGGGCCGCCGCCCCATGAACCAGCTGGGAACACAGAAGAACACAGGTGAGCAGGGCCCCACCTGGGCATTCCTGGTCTTGGACGACACTGGATGTGGGCTCTCCTCGGTTCAGAAACCAGCACTCTTGTTCCAACCGCACCCCACCCCCACCAGGAGTCAGGCCCTAAGCAGAGCCTTCCCAGTGGCTGGGCTCCAGCGTGGGGTGTCCCTTGCCGAGGTCACACAGCCTAGCCAGGCCTCATGTGCTCTGCAGCCACGCTGCCTCCGCTGGCCGGTTAGGCTTTTCCATCTCTGGCTTCCATGGGTTTGGTTCACTGGGAATGAGAGCTCAGGAAGATTCTGGGGTGGGGGTGCTACCTGAACCCCCAGAAATCCCAGAAAAGTGACAGCAGCTGAGGTGGGGGAGGGGAGGGGACAGTGTGACCCTCCAGCCTCCCTGGAAGGGGGTCCCACCCCAGAGAGTCTGTGGGGTGGGCAGAAGGGCCAGAACGGCTCCTCAGCCTTACCTCCCACTAGTGTGGGGTCCAGGACATGTCACTTCCCATCTTGGCACCCACCGCAGGCCCTGCCAGGGGCGGCACACAGCCACCAGGCTGAGCATGCGCCCTCCCCAGCCCCAGACCCCAGTTGGGCCAGGCGGGAGGCCAGGAGGCCGGGGGTGTCAGGCCCCGCCGCCGACACACCCACGCGAGCCGGAAACAACCAGGAGCACTATTCCCGGCCGGGTGGGTCCAGCAGCCGCGGGCTTCGCCCCGCCGGGACTCGCGGCCGCGCCTCCTCTGTACCACAGCTCCCAAGGTCCCCCCACGGACACACCCGGCCCCGAGGGTCGCTGGCAACCATGCCGACCCAAAAGCCCACGCACCGCCCTCCCCGCGGCCTCTCCGTCTCTGAGGTGGGCACCAGCGCTCACCTGGGGCGGCTGCAGAGGGGCCCAGGCCAGGGAGGGGCTCTCAGCTGCCGCAGAGTTGGCCTGTGGAGACCACAGCCAGGGAGCACTGCCCACCAGCCCCCAACCCCAAGGAGGGAGCCAGAGAGTGAAAGCCAGCAGGCGCTCCCCAAGGGGAAGGGATGGGCAGCCACAACCCCTGCGCCTCAGTTTCTCCTTTGGGAGAGCAAGACTCTCACAGCACCCACCTCACAAGAGGCTATGTATGAGGACTGGGGCCTGGGAGCATCCCCACTGTGCCCAGCAGATCCCATCCCGGAGCTCACATGGAGCTCCCGTTCCCACTGAATTTCTTTCCTGGGGTCCACCCGGGTGGTCTGCTTAGCTGGCTGGGGTTGGGGAGACAAGACAGGCTGTTCTGGGAGAGCATTCCAGGCAAGGACCTGAGGCAAGGAAGGACCCCTCAGACTGCAGGAACTGAGGTAGATGGGAAGCAAGTGGGCAGAGGCCATGAGGTAGGCAGGGCCCGACCACCGGCCTGGCAGCATTCTGGTTGAAGTTCATTCTGACAGAGACAGGTTCTAGCAGGGGAGGGGTGCAGCCCCAGTTGTGTTTTAGGAACACCGTTTTTCTTGCTATGTGAAGACTAGACTGGAGGGGTGGCAGCAGGCTGAATGACGGCCCCTCAAAGATAGCAGATCCTAGTCCTGGGAAACCGTGCACGTGACCTTATTGAGAAACAGGGTCACGTGCACTTTGCACAGATATGATTAGGCTAAGGATCTTGAGGCGACTATCCAGGTGGACCCTAAAGGCCAGGACTCGAGTGATGAGGCCACAAGCCAAGGAAGGCTGGGGCCACCAGAAACTGAAAGGGCAATAAACAGAGTCTCCCCTAGAGCCTTGGGAGGGAGCACAGCCCTGTGGTGCCTTTTCTGGGCCCAGTGACCTGGATTTTGAACTCTGGCCTTCAGCATACATTTCTGCTGTTTTCAGCTATCACATTTGTGTGTTTTGTTGCAGCAGCCACCGTGGGAAACGAATACAGTGGCCAAGAGTGTTTGGGGCAGGCCCTAGGCCAGCGCTGGAGGATGTGGGGAGAGGCTGGGAGAGGGGTGG 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ACAGCTGGCTGTCACCAGGGTGGAGACCTTGCCAGGTGAGCATAAACGAAGGATGGAGGGCACTATGGGAAGTGCATGCAGATGACCAAGAGTTCTAAACTGGGCTGGGAGGAAAGCAAGGAAAGAGGGGCTGATGGTTGGCGAAAAGGGGCTGGGCCAGGAGCTTGGAGGGCCTGGTGGTTTGAAGAGCACAGGGAAGCGCCACATGAGGGAGGGCCTGGCCTGAGGGAGGGATGCCTCAATCCAGACTTTGGAGGCAGTGCCTTCACCAGTAACAAGAGATATGCCTGCCTGGCTGTGAGGGGTAGAGGTGAAGACAGACTGTTCCAAGTGAGGAGGTTGAGGAAGAGGCAAGGACACACCCCTGCTCTAGGCTCACCGCACATGGGGAGTGGGAGGAAAAAGATTCCACTTAAGAGGGCTGCAGGGTACTGAGTGGGCTTCAGTAAGGCCAGAAGGCAGAGGGAACTTCCTATTCCGAGAAGATGGAATCACAGGAATTTTGCTGACAACAGACGATGAGTTTCAGAACGCACAGTGAGTTGGGGGGAGGGCACGGGAGTGCTCGTGAGATAAAAGGCAGAAGAGGGTCGGCCCAGATGGTCTCAGGGCAAGTGCCATGACGACAGTCCAGGGCAACATGGGCGAGGCTGGGAGGTGGGGGTTTGCCAGGAGCCTGTGGTTTCTCTTGGATCCCGCTGAGGGCAGTATCTAGGCTGGGGCACCATGTCTGCCGAAAGCTCAGTGGCAGGGCAGAGAGGGCCTGGGGCTGCCTCGTGAGGTGCGAGGGGTTCTTGTGAAGGTGGGGAGGCCCAGGGTCAGGGCCTCCCAAAGTAATGCTGAAGGGGCTCTGCTTCCAGAAGGGCCTGGACAACCTCAGAGGTCAGGGTGTTGAGCCAGGGGGCTCACCTTCCTCTCCTGCCAAGGGGCTGCCAGAAAGCTGGACCCCAGCCAGCGGCCTCCCACCTCTGAGAGGTTTCCAGCCCCCATCCTTGGACTGTGGGTAGGGGGGCAGAGAGGGGAGTGGGCAGGCTGAGGGTCTGCCATCCCCCGGGGTACCTCACCATTCCAGCTCCCAATAACAGGGTTCTGTCCTTGCCAAGGGAGGCTGGTGGCCAGAAGCATGGCTGAACGGGTGATTCTACTTAACCCCAAGCCTCTAAGGAGGGTGCCATGCCCAGTTAGTTCAAGGAACAATGTGTTGCGGTATAGAAAAGGCCACACAGCTTTGAGTGGCAGAACCTGGTTATGTCAAAGCTCCCATCCCACATGCCATCCTGCTGCACGGTCTGGTCTCCTGGCAGCTTCCACGGCACAAGGGGTAGGGACAGGGAGAGCCCTGGAGGTGGGGCCAGGAAAGGCCCAAGAGCCCCCAGCTCCTGTGGGGGAGGGGCTAAACAGGAGAGAAGGCAGCCCCAGGCCTAGGCTCTCTGAAAATGAGACTTTATTATACAAAACTATTCTGTGTGCCCCCAGCTCTGGCCACCAGGCTGCCCCTCAGGCCGATGGGCAGCGGCTGACTTCGGGAAGGCAGCCCTTCATTATCAGAGACTGTGCAGCCTGTGGAGCCTTCACTGGGGGAAGCTCTGGGGTGGGCTGGGCCCCAACACACCCTGTGTATCAGAAGGCCCAGTGTCATAGCCCAGTTTCCTCATGTCCTTGGTCACCACGTTGAAGAGGAGGGTGACAAAGCCCTGAGAACGGACACGGGTCACTGGGGACAGAAGGGCAGCATCAGCCAGGCTGGGCTGGGGCAGAGAGAGACCCAGGTTGATCTGGGAATCTCAGCCTCAGCGTTCTCATCTGTAAAATGGGGACAACAGTGCCTGACCCAAGCCCCTCACTGGGAGGTAAAGGGGCTGCCGGGACAGGCAGACATGACAAACCCTCTGTGCTCCAACCAGGCCCTCATCTGGGAACATTTGTGGGCTAGCTCCTATGTGCCTGGCAGGTCCCCGGCATTCACCCCAACCCTGGGCCCACCCACTCCCAGGCTGTAACCTGTATGGGGGATGGGGGTAAGAGAGGGGAGGGAGCTTTACCTTCCCAGCCTTCACCCTGAGCCACCACCTTGGGGTCTGTGTACTCGGGCCGCCGCCCCATGAACCAGCTGGGAACACAGAAGAACACAGGTGAGCAGGGCCCCACCTGGGCATTCCTGGTCTTGGACGACACTGGATGTGGGCTCTCCTCGGTTCAGAAACCAGCACTCTTGTTCCAACCGCACCCCACCCCCACCAGGAGTCAGGCCCTAAGCAGAGCCTTCCCAGTGGCTGGGCTCCAGCGTGGGGTGTCCCTTGCCGAGGTCACACAGCCTAGCCAGGCCTCATGTGCTCTGCAGCCACGCTGCCTCCGCTGGCCGGTTAGGCTTTTCCATCTCTGGCTTCCATGGGTTTGGTTCACTGGGAATGAGAGCTCAGGAAGATTCTGGGGTGGGGGTGCTACCTGAACCCCCAGAAATCCCAGAAAAGTGACAGCAGCTGAGGTGGGGGAGGGGAGGGGACAGTGTGACCCTCCAGCCTCCCTGGAAGGGGGTCCCACCCCAGAGAGTCTGTGGGGTGGGCAGAAGGGCCAGAACGGCTCCTCAGCCTTACCTCCCACTAGTGTGGGGTCCAGGACATGTCACTTCCCATCTTGGCACCCACCGCAGGCCCTGCCAGGGGCGGCACACAGCCACCAGGCTGAGCATGCGCCCTCCCCAGCCCCAGACCCCAGTTGGGCCAGGCGGGAGGCCAGGAGGCCGGGGGTGTCAGGCCCCGCCGCCGACACACCCACGCGAGCCGGAAACAACCAGGAGCACTATTCCCGGCCGGGTGGGTCCAGCAGCCGCGGGCTTCGCCCCGCCGGGACTCGCGGCCGCGCCTCCTCTGTACCACAGCTCCCAAGGTCCCCCCACGGACACACCCGGCCCCGAGGGTCGCTGGCAACCATGCCGACCCAAAAGCCCACGCACCGCCCTCCCCGCGGCCTCTCCGTCTCTGAGGTGGGCACCAGCGCTCACCTGGGGCGGCTGCAGAGGGGCCCAGGCCAGGGAGGGGCTCTCAGCTGCCGCAGAGTTGGCCTGTGGAGACCACAGCCAGGGAGCACTGCCCACCAGCCCCCAACCCCAAGGAGGGAGCCAGAGAGTGAAAGCCAGCAGGCGCTCCCCAAGGGGAAGGGATGGGCAGCCACAACCCCTGCGCCTCAGTTTCTCCTTTGGGAGAGCAAGACTCTCACAGCACCCACCTCACAAGAGGCTATGTATGAGGACTGGGGCCTGGGAGCATCCCCACTGTGCCCAGCAGATCCCATCCCGGAGCTCACATGGAGCTCCCGTTCCCACTGAATTTCTTTCCTGGGGTCCACCCGGGTGGTCTGCTTAGCTGGCTGGGGTTGGGGAGACAAGACAGGCTGTTCTGGGAGAGCATTCCAGGCAAGGACCTGAGGCAAGGAAGGACCCCTCAGACTGCAGGAACTGAGGTAGATGGGAAGCAAGTGGGCAGAGGCCATGAGGTAGGCAGGGCCCGACCACCGGCCTGGCAGCATTCTGGTTGAAGTTCATTCTGACAGAGACAGGTTCTAGCAGGGGAGGGGTGCAGCCCCAGTTGTGTTTTAGGAACACCGTTTTTCTTGCTATGTGAAGACTAGACTGGAGGGGTGGCAGCAGGCTGAATGACGGCCCCTCAAAGATAGCAGATCCTAGTCCTGGGAAACCGTGCACGTGACCTTATTGAGAAACAGGGTCACGTGCACTTTGCACAGATATGATTAGGCTAAGGATCTTGAGGCGACTATCCAGGTGGACCCTAAAGGCCAGGACTCGAGTGATGAGGCCACAAGCCAAGGAAGGCTGGGGCCACCAGAAACTGAAAGGGCAATAAACAGAGTCTCCCCTAGAGCCTTGGGAGGGAGCACAGCCCTGTGGTGCCTTTTCTGGGCCCAGTGACCTGGATTTTGAACTCTGGCCTTCAGCATACATTTCTGCTGTTTTCAGCTATCACATTTGTGTGTTTTGTTGCAGCAGCCACCGTGGGAAACGAATACAGTGGCCAAGAGTGTTTGGGGCAGGCCCTAGGCCAGCGCTGGAGGATGTGGGGAGAGGCTGGGAGAGGGGTGG 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Task1_train_23871 | A genetic alteration is present in B9D1 (B9 domain containing 1) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Joubert syndrome 27 | ACAGCTGGCTGTCACCAGGGTGGAGACCTTGCCAGGTGAGCATAAACGAAGGATGGAGGGCACTATGGGAAGTGCATGCAGATGACCAAGAGTTCTAAACTGGGCTGGGAGGAAAGCAAGGAAAGAGGGGCTGATGGTTGGCGAAAAGGGGCTGGGCCAGGAGCTTGGAGGGCCTGGTGGTTTGAAGAGCACAGGGAAGCGCCACATGAGGGAGGGCCTGGCCTGAGGGAGGGATGCCTCAATCCAGACTTTGGAGGCAGTGCCTTCACCAGTAACAAGAGATATGCCTGCCTGGCTGTGAGGGGTAGAGGTGAAGACAGACTGTTCCAAGTGAGGAGGTTGAGGAAGAGGCAAGGACACACCCCTGCTCTAGGCTCACCGCACATGGGGAGTGGGAGGAAAAAGATTCCACTTAAGAGGGCTGCAGGGTACTGAGTGGGCTTCAGTAAGGCCAGAAGGCAGAGGGAACTTCCTATTCCGAGAAGATGGAATCACAGGAATTTTGCTGACAACAGACGATGAGTTTCAGAACGCACAGTGAGTTGGGGGGAGGGCACGGGAGTGCTCGTGAGATAAAAGGCAGAAGAGGGTCGGCCCAGATGGTCTCAGGGCAAGTGCCATGACGACAGTCCAGGGCAACATGGGCGAGGCTGGGAGGTGGGGGTTTGCCAGGAGCCTGTGGTTTCTCTTGGATCCCGCTGAGGGCAGTATCTAGGCTGGGGCACCATGTCTGCCGAAAGCTCAGTGGCAGGGCAGAGAGGGCCTGGGGCTGCCTCGTGAGGTGCGAGGGGTTCTTGTGAAGGTGGGGAGGCCCAGGGTCAGGGCCTCCCAAAGTAATGCTGAAGGGGCTCTGCTTCCAGAAGGGCCTGGACAACCTCAGAGGTCAGGGTGTTGAGCCAGGGGGCTCACCTTCCTCTCCTGCCAAGGGGCTGCCAGAAAGCTGGACCCCAGCCAGCGGCCTCCCACCTCTGAGAGGTTTCCAGCCCCCATCCTTGGACTGTGGGTAGGGGGGCAGAGAGGGGAGTGGGCAGGCTGAGGGTCTGCCATCCCCCGGGGTACCTCACCATTCCAGCTCCCAATAACAGGGTTCTGTCCTTGCCAAGGGAGGCTGGTGGCCAGAAGCATGGCTGAACGGGTGATTCTACTTAACCCCAAGCCTCTAAGGAGGGTGCCATGCCCAGTTAGTTCAAGGAACAATGTGTTGCGGTATAGAAAAGGCCACACAGCTTTGAGTGGCAGAACCTGGTTATGTCAAAGCTCCCATCCCACATGCCATCCTGCTGCACGGTCTGGTCTCCTGGCAGCTTCCACGGCACAAGGGGTAGGGACAGGGAGAGCCCTGGAGGTGGGGCCAGGAAAGGCCCAAGAGCCCCCAGCTCCTGTGGGGGAGGGGCTAAACAGGAGAGAAGGCAGCCCCAGGCCTAGGCTCTCTGAAAATGAGACTTTATTATACAAAACTATTCTGTGTGCCCCCAGCTCTGGCCACCAGGCTGCCCCTCAGGCCGATGGGCAGCGGCTGACTTCGGGAAGGCAGCCCTTCATTATCAGAGACTGTGCAGCCTGTGGAGCCTTCACTGGGGGAAGCTCTGGGGTGGGCTGGGCCCCAACACACCCTGTGTATCAGAAGGCCCAGTGTCATAGCCCAGTTTCCTCATGTCCTTGGTCACCACGTTGAAGAGGAGGGTGACAAAGCCCTGAGAACGGACACGGGTCACTGGGGACAGAAGGGCAGCATCAGCCAGGCTGGGCTGGGGCAGAGAGAGACCCAGGTTGATCTGGGAATCTCAGCCTCAGCGTTCTCATCTGTAAAATGGGGACAACAGTGCCTGACCCAAGCCCCTCACTGGGAGGTAAAGGGGCTGCCGGGACAGGCAGACATGACAAACCCTCTGTGCTCCAACCAGGCCCTCATCTGGGAACATTTGTGGGCTAGCTCCTATGTGCCTGGCAGGTCCCCGGCATTCACCCCAACCCTGGGCCCACCCACTCCCAGGCTGTAACCTGTATGGGGGATGGGGGTAAGAGAGGGGAGGGAGCTTTACCTTCCCGGCCTTCACCCTGAGCCACCACCTTGGGGTCTGTGTACTCGGGCCGCCGCCCCATGAACCAGCTGGGAACACAGAAGAACACAGGTGAGCAGGGCCCCACCTGGGCATTCCTGGTCTTGGACGACACTGGATGTGGGCTCTCCTCGGTTCAGAAACCAGCACTCTTGTTCCAACCGCACCCCACCCCCACCAGGAGTCAGGCCCTAAGCAGAGCCTTCCCAGTGGCTGGGCTCCAGCGTGGGGTGTCCCTTGCCGAGGTCACACAGCCTAGCCAGGCCTCATGTGCTCTGCAGCCACGCTGCCTCCGCTGGCCGGTTAGGCTTTTCCATCTCTGGCTTCCATGGGTTTGGTTCACTGGGAATGAGAGCTCAGGAAGATTCTGGGGTGGGGGTGCTACCTGAACCCCCAGAAATCCCAGAAAAGTGACAGCAGCTGAGGTGGGGGAGGGGAGGGGACAGTGTGACCCTCCAGCCTCCCTGGAAGGGGGTCCCACCCCAGAGAGTCTGTGGGGTGGGCAGAAGGGCCAGAACGGCTCCTCAGCCTTACCTCCCACTAGTGTGGGGTCCAGGACATGTCACTTCCCATCTTGGCACCCACCGCAGGCCCTGCCAGGGGCGGCACACAGCCACCAGGCTGAGCATGCGCCCTCCCCAGCCCCAGACCCCAGTTGGGCCAGGCGGGAGGCCAGGAGGCCGGGGGTGTCAGGCCCCGCCGCCGACACACCCACGCGAGCCGGAAACAACCAGGAGCACTATTCCCGGCCGGGTGGGTCCAGCAGCCGCGGGCTTCGCCCCGCCGGGACTCGCGGCCGCGCCTCCTCTGTACCACAGCTCCCAAGGTCCCCCCACGGACACACCCGGCCCCGAGGGTCGCTGGCAACCATGCCGACCCAAAAGCCCACGCACCGCCCTCCCCGCGGCCTCTCCGTCTCTGAGGTGGGCACCAGCGCTCACCTGGGGCGGCTGCAGAGGGGCCCAGGCCAGGGAGGGGCTCTCAGCTGCCGCAGAGTTGGCCTGTGGAGACCACAGCCAGGGAGCACTGCCCACCAGCCCCCAACCCCAAGGAGGGAGCCAGAGAGTGAAAGCCAGCAGGCGCTCCCCAAGGGGAAGGGATGGGCAGCCACAACCCCTGCGCCTCAGTTTCTCCTTTGGGAGAGCAAGACTCTCACAGCACCCACCTCACAAGAGGCTATGTATGAGGACTGGGGCCTGGGAGCATCCCCACTGTGCCCAGCAGATCCCATCCCGGAGCTCACATGGAGCTCCCGTTCCCACTGAATTTCTTTCCTGGGGTCCACCCGGGTGGTCTGCTTAGCTGGCTGGGGTTGGGGAGACAAGACAGGCTGTTCTGGGAGAGCATTCCAGGCAAGGACCTGAGGCAAGGAAGGACCCCTCAGACTGCAGGAACTGAGGTAGATGGGAAGCAAGTGGGCAGAGGCCATGAGGTAGGCAGGGCCCGACCACCGGCCTGGCAGCATTCTGGTTGAAGTTCATTCTGACAGAGACAGGTTCTAGCAGGGGAGGGGTGCAGCCCCAGTTGTGTTTTAGGAACACCGTTTTTCTTGCTATGTGAAGACTAGACTGGAGGGGTGGCAGCAGGCTGAATGACGGCCCCTCAAAGATAGCAGATCCTAGTCCTGGGAAACCGTGCACGTGACCTTATTGAGAAACAGGGTCACGTGCACTTTGCACAGATATGATTAGGCTAAGGATCTTGAGGCGACTATCCAGGTGGACCCTAAAGGCCAGGACTCGAGTGATGAGGCCACAAGCCAAGGAAGGCTGGGGCCACCAGAAACTGAAAGGGCAATAAACAGAGTCTCCCCTAGAGCCTTGGGAGGGAGCACAGCCCTGTGGTGCCTTTTCTGGGCCCAGTGACCTGGATTTTGAACTCTGGCCTTCAGCATACATTTCTGCTGTTTTCAGCTATCACATTTGTGTGTTTTGTTGCAGCAGCCACCGTGGGAAACGAATACAGTGGCCAAGAGTGTTTGGGGCAGGCCCTAGGCCAGCGCTGGAGGATGTGGGGAGAGGCTGGGAGAGGGGTGG 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ACAGCTGGCTGTCACCAGGGTGGAGACCTTGCCAGGTGAGCATAAACGAAGGATGGAGGGCACTATGGGAAGTGCATGCAGATGACCAAGAGTTCTAAACTGGGCTGGGAGGAAAGCAAGGAAAGAGGGGCTGATGGTTGGCGAAAAGGGGCTGGGCCAGGAGCTTGGAGGGCCTGGTGGTTTGAAGAGCACAGGGAAGCGCCACATGAGGGAGGGCCTGGCCTGAGGGAGGGATGCCTCAATCCAGACTTTGGAGGCAGTGCCTTCACCAGTAACAAGAGATATGCCTGCCTGGCTGTGAGGGGTAGAGGTGAAGACAGACTGTTCCAAGTGAGGAGGTTGAGGAAGAGGCAAGGACACACCCCTGCTCTAGGCTCACCGCACATGGGGAGTGGGAGGAAAAAGATTCCACTTAAGAGGGCTGCAGGGTACTGAGTGGGCTTCAGTAAGGCCAGAAGGCAGAGGGAACTTCCTATTCCGAGAAGATGGAATCACAGGAATTTTGCTGACAACAGACGATGAGTTTCAGAACGCACAGTGAGTTGGGGGGAGGGCACGGGAGTGCTCGTGAGATAAAAGGCAGAAGAGGGTCGGCCCAGATGGTCTCAGGGCAAGTGCCATGACGACAGTCCAGGGCAACATGGGCGAGGCTGGGAGGTGGGGGTTTGCCAGGAGCCTGTGGTTTCTCTTGGATCCCGCTGAGGGCAGTATCTAGGCTGGGGCACCATGTCTGCCGAAAGCTCAGTGGCAGGGCAGAGAGGGCCTGGGGCTGCCTCGTGAGGTGCGAGGGGTTCTTGTGAAGGTGGGGAGGCCCAGGGTCAGGGCCTCCCAAAGTAATGCTGAAGGGGCTCTGCTTCCAGAAGGGCCTGGACAACCTCAGAGGTCAGGGTGTTGAGCCAGGGGGCTCACCTTCCTCTCCTGCCAAGGGGCTGCCAGAAAGCTGGACCCCAGCCAGCGGCCTCCCACCTCTGAGAGGTTTCCAGCCCCCATCCTTGGACTGTGGGTAGGGGGGCAGAGAGGGGAGTGGGCAGGCTGAGGGTCTGCCATCCCCCGGGGTACCTCACCATTCCAGCTCCCAATAACAGGGTTCTGTCCTTGCCAAGGGAGGCTGGTGGCCAGAAGCATGGCTGAACGGGTGATTCTACTTAACCCCAAGCCTCTAAGGAGGGTGCCATGCCCAGTTAGTTCAAGGAACAATGTGTTGCGGTATAGAAAAGGCCACACAGCTTTGAGTGGCAGAACCTGGTTATGTCAAAGCTCCCATCCCACATGCCATCCTGCTGCACGGTCTGGTCTCCTGGCAGCTTCCACGGCACAAGGGGTAGGGACAGGGAGAGCCCTGGAGGTGGGGCCAGGAAAGGCCCAAGAGCCCCCAGCTCCTGTGGGGGAGGGGCTAAACAGGAGAGAAGGCAGCCCCAGGCCTAGGCTCTCTGAAAATGAGACTTTATTATACAAAACTATTCTGTGTGCCCCCAGCTCTGGCCACCAGGCTGCCCCTCAGGCCGATGGGCAGCGGCTGACTTCGGGAAGGCAGCCCTTCATTATCAGAGACTGTGCAGCCTGTGGAGCCTTCACTGGGGGAAGCTCTGGGGTGGGCTGGGCCCCAACACACCCTGTGTATCAGAAGGCCCAGTGTCATAGCCCAGTTTCCTCATGTCCTTGGTCACCACGTTGAAGAGGAGGGTGACAAAGCCCTGAGAACGGACACGGGTCACTGGGGACAGAAGGGCAGCATCAGCCAGGCTGGGCTGGGGCAGAGAGAGACCCAGGTTGATCTGGGAATCTCAGCCTCAGCGTTCTCATCTGTAAAATGGGGACAACAGTGCCTGACCCAAGCCCCTCACTGGGAGGTAAAGGGGCTGCCGGGACAGGCAGACATGACAAACCCTCTGTGCTCCAACCAGGCCCTCATCTGGGAACATTTGTGGGCTAGCTCCTATGTGCCTGGCAGGTCCCCGGCATTCACCCCAACCCTGGGCCCACCCACTCCCAGGCTGTAACCTGTATGGGGGATGGGGGTAAGAGAGGGGAGGGAGCTTTACCTTCCCAGCCTTCACCCTGAGCCACCACCTTGGGGTCTGTGTACTCGGGCCGCCGCCCCATGAACCAGCTGGGAACACAGAAGAACACAGGTGAGCAGGGCCCCACCTGGGCATTCCTGGTCTTGGACGACACTGGATGTGGGCTCTCCTCGGTTCAGAAACCAGCACTCTTGTTCCAACCGCACCCCACCCCCACCAGGAGTCAGGCCCTAAGCAGAGCCTTCCCAGTGGCTGGGCTCCAGCGTGGGGTGTCCCTTGCCGAGGTCACACAGCCTAGCCAGGCCTCATGTGCTCTGCAGCCACGCTGCCTCCGCTGGCCGGTTAGGCTTTTCCATCTCTGGCTTCCATGGGTTTGGTTCACTGGGAATGAGAGCTCAGGAAGATTCTGGGGTGGGGGTGCTACCTGAACCCCCAGAAATCCCAGAAAAGTGACAGCAGCTGAGGTGGGGGAGGGGAGGGGACAGTGTGACCCTCCAGCCTCCCTGGAAGGGGGTCCCACCCCAGAGAGTCTGTGGGGTGGGCAGAAGGGCCAGAACGGCTCCTCAGCCTTACCTCCCACTAGTGTGGGGTCCAGGACATGTCACTTCCCATCTTGGCACCCACCGCAGGCCCTGCCAGGGGCGGCACACAGCCACCAGGCTGAGCATGCGCCCTCCCCAGCCCCAGACCCCAGTTGGGCCAGGCGGGAGGCCAGGAGGCCGGGGGTGTCAGGCCCCGCCGCCGACACACCCACGCGAGCCGGAAACAACCAGGAGCACTATTCCCGGCCGGGTGGGTCCAGCAGCCGCGGGCTTCGCCCCGCCGGGACTCGCGGCCGCGCCTCCTCTGTACCACAGCTCCCAAGGTCCCCCCACGGACACACCCGGCCCCGAGGGTCGCTGGCAACCATGCCGACCCAAAAGCCCACGCACCGCCCTCCCCGCGGCCTCTCCGTCTCTGAGGTGGGCACCAGCGCTCACCTGGGGCGGCTGCAGAGGGGCCCAGGCCAGGGAGGGGCTCTCAGCTGCCGCAGAGTTGGCCTGTGGAGACCACAGCCAGGGAGCACTGCCCACCAGCCCCCAACCCCAAGGAGGGAGCCAGAGAGTGAAAGCCAGCAGGCGCTCCCCAAGGGGAAGGGATGGGCAGCCACAACCCCTGCGCCTCAGTTTCTCCTTTGGGAGAGCAAGACTCTCACAGCACCCACCTCACAAGAGGCTATGTATGAGGACTGGGGCCTGGGAGCATCCCCACTGTGCCCAGCAGATCCCATCCCGGAGCTCACATGGAGCTCCCGTTCCCACTGAATTTCTTTCCTGGGGTCCACCCGGGTGGTCTGCTTAGCTGGCTGGGGTTGGGGAGACAAGACAGGCTGTTCTGGGAGAGCATTCCAGGCAAGGACCTGAGGCAAGGAAGGACCCCTCAGACTGCAGGAACTGAGGTAGATGGGAAGCAAGTGGGCAGAGGCCATGAGGTAGGCAGGGCCCGACCACCGGCCTGGCAGCATTCTGGTTGAAGTTCATTCTGACAGAGACAGGTTCTAGCAGGGGAGGGGTGCAGCCCCAGTTGTGTTTTAGGAACACCGTTTTTCTTGCTATGTGAAGACTAGACTGGAGGGGTGGCAGCAGGCTGAATGACGGCCCCTCAAAGATAGCAGATCCTAGTCCTGGGAAACCGTGCACGTGACCTTATTGAGAAACAGGGTCACGTGCACTTTGCACAGATATGATTAGGCTAAGGATCTTGAGGCGACTATCCAGGTGGACCCTAAAGGCCAGGACTCGAGTGATGAGGCCACAAGCCAAGGAAGGCTGGGGCCACCAGAAACTGAAAGGGCAATAAACAGAGTCTCCCCTAGAGCCTTGGGAGGGAGCACAGCCCTGTGGTGCCTTTTCTGGGCCCAGTGACCTGGATTTTGAACTCTGGCCTTCAGCATACATTTCTGCTGTTTTCAGCTATCACATTTGTGTGTTTTGTTGCAGCAGCCACCGTGGGAAACGAATACAGTGGCCAAGAGTGTTTGGGGCAGGCCCTAGGCCAGCGCTGGAGGATGTGGGGAGAGGCTGGGAGAGGGGTGG 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Task1_train_23872 | Here is a variant affecting MAPK7 (mitogen-activated protein kinase 7) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Scoliosis, isolated, susceptibility to, 1 | TGACGTGGGCGACGAGTACGAGATCATCGAGACCATAGGCAACGGGGCCTATGGAGTGGTGTCCTCCGCCCGCCGCCGCCTCACCGGTGAGCTTCCTGAGCCGTCGCCTCCCAGATGTGGCAGCGTCGCAGGGAGTGGGAAACCGGCCTGTCCCAGACAGCCGGGAAGGAAAGCGGGGTGCGAGTTCTGGCTCCAGTCAACACACACTGACCAGGGCCTTCTGCCTGCCAGGCTCCGGGGAGGCTCGGTTCTCTGAAACTCCGGCCTGGTGGTTTTGCCATCCTGCCTGCCTACTTCCTCCTTAGGAAAATGATAGTCCCAGTTAGACCAGAATGGAGAGCCAGTCCTTCGTGTCTAAGAGAGAAATGTGTTCTGGAGCCAGACACTGGCATAAGGAACTGGTGGTGGGATGGGTGAGGTCTGAGATGGAGAGGGTGTAGGCATAAGAGGCTGAGCTACACCACTGGGCATCCGTGCAACCTCCAACAAGTTACTAAGCCATATTTCCTTCTCTTTAACGTTGACCTATTGGGACCTGCCCCGCAGGGGAGTTGTGAAGGTAACATTTAATAATGTAGGTAACATGCTTAGCACAGGGCTTGGCACATAGTAGGTACCCAATACTTGGTAGCTGTTGTCATTTGCATCCTAGAAGGGAGGTGTTGATAGGGGCTGAGTCGACTCTGCAGTTTCTCCAAGGTATCCTCTGGTATGTCCCTTTTCCCTGCTCCTCAGGCCAGCAGGTGGCCATCAAGAAGATCCCTAATGCTTTCGATGTGGTGACCAATGCCAAGCGGACCCTCAGGGAGCTGAAGATCCTCAAGCACTTTAAACACGACAACATCATCGCCATCAAGGACATCCTGAGGCCCACCGTGCCCTATGGCGAATTCAAATCTGTGTAAGAAGCGGGATGGGAGAGGGAGCCAGACTTGGGACTTTTCTGAAGGCTGCAACCATGTTGCCGAAGTTCTGGAAAGGCAGCTGAATCTAATCTGAAGCAGGCTGGGAAAATTCCCGCAGTTCTAGGACCAGTTCTTTAGAGTTTTGCCAGGGACAACTGTTATTCCTCAAGAAGTGTACAGATGATTTTACAGTTTTATAGAATCTTAGTATATAGGATGTCAAATGTAGGACATTCCTACTATGACCACACCCTCCTATTCCCATAGCAGACTTCACTAATCAATCACAGAACACTTTCCTACAGACAGTGGACAAGCCTGGTCAATTTTCATCATAGTTCTTCAAGCTGCCACTACCAAACAATGGAGATAGCCCCAAAAGGAAACCTATTGGCCAGCCCTGGTGTAGTCCAACCCCATCTTTTATCTGATGGGGAAACTAGGTCTGGAGACAAAAGTGATTTAACCAAGTTCATGGAAAAGTCGTAGAGAATCTAAAACGTGATGCTCTTCTTCCATACCATGCCGTCAGCCCCTATGGGGTCCCAGGGTAAGGCTGTTACCTGTCTGGAATCGGAAGGGTGTGGTGAGGATGGGGCTTGTCCCTGGAGTGTGATCAGGCCAACCCATGCTTCTCTCCTTCCTTCCCCTTCCAGCTACGTGGTCCTGGACCTGATGGAAAGCGACCTGCACCAGATCATCCACTCCTCACAGCCCCTCACACTGGAACACGTGCGCTACTTCCTGTACCAACTGCTGCGGGGCCTGAAGTACATGCACTCGGCTCAGGTCATCCACCGTGACCTGAAGCCCTCCAACCTATTGGTGAATGAGAACTGTGAGCTCAAGATTGGTGACTTTGGTATGGCTCGTGGCCTGTGCACCTCGCCCGCTGAACATCAGTACTTCATGACTGAGTATGTGGCCACGCGCTGGTACCGTGCGCCCGAGCTCATGCTCTCTTTGCATGAGTATACACAGGCTATTGACCTCTGGTCTGTGGGCTGCATCTTTGGTGAGATGCTGGCCCGGCGCCAGCTCTTCCCAGGCAAAAACTATGTACACCAGCTACAGCTCATCATGATGGTGCTGGGTACCCCATCACCAGCCGTGATTCAGGCTGTGGGGGCTGAGAGGGTGCGGGCCTATATCCAGAGCTTGCCACCACGCCAGCCTGTGCCCTGGGAGACAGTGTACCCAGGTGCCGACCGCCAGGCCCTATCACTGCTGGGTCGCATGCTGCGTTTTGAGCCCAGCGCTCGCATCTCAGCAGCTGCTGCCCTTCGCCACCCTTTCCTGGCCAAGTACCATGATCCTGATGATGAGCCTGACTGTGCCCCGCCCTTTGACTTTGCCTTTGACCGCGAAGCCCTCACTCGGGAGCGCATTAAGGAGGCCATTGTGGCTGAAATTGAGGACTTCCATGCAAGGCGTGAGGGCATCCGCCAACAGATCCGCTTCCAGCCTTCTCTACAGCCTGTGGCTAGTGAGCCTGGCTGTCCAGATGTTGAAATGCCCAGTCCCTGGGCTCCCAGTGGGGACTGTGCCATGGAGTCTCCACCACCAGCCCCGCCACCATGCCCCGGCCCTGCACCTGACACCATTGATCTGACCCTGCAGCCACCTCCACCAGTCAGTGAGCCTGCCCCACCAAAGAAAGATGGTGCCATCTCAGACAATACTAAGGCTGCCCTTAAAGCTGCCCTGCTCAAGTCTTTGAGGAGCCGGCTCAGAGGTGCCTTGTGGGCAGGTCGGGTGGGCAGAGGGGAGACTTGGACTTGGACAAGGCTTCAGGCTTTTACCTTCTCCCCTGCCCAACTTCCCCGCAGATGGCCCCAGCGCACCCCTGGAGGCTCCTGAGCCTCGGAAGCCGGTGACAGCCCAGGAGCGCCAGCGGGAGCGGGAGGAGAAGCGGCGGAGGCGGCAAGAACGAGCCAAGGAGCGGGAGAAACGGCGGCAGGAGCGGGAGCGAAAGGAACGGGGGGCTGGGGCCTCTGGGGGCCCCTCCACTGACCCCTTGGCTGGACTAGTGCTCAGTGACAATGACAGAAGCCTGTTGGAACGCTGGACTCGAATGGCCCGGCCCGCAGCCCCAGCCCTCACCTCTGTGCCGGCCCCTGCCCCAGCGCCAACGCCAACCCCAACCCCAGTCCAACCTACCAGTCCTCCTCCTGGCCCTGTAGCCCAGCCCACTGGCCCGCAACCACAATCTGCGGGCTCTACCTCTGGCCCTGTACCCCAGCCTGCCTGCCCACCCCCTGGCCCTGCACCCCACCCCACTGGCCCTCCTGGGCCCATCCCTGTCCCCGCGCCACCCCAGATTGCCACCTCCACCAGCCTCCTGGCTGCCCAGTCACTTGTGCCACCCCCTGGGCTGCCTGGCTCCAGCACCCCAGGAGTTTTGCCTTACTTCCCACCTGGCCTGCCGCCCCCAGACGCCGGGGGAGCCCCTCAGTCTTCCATGTCAGAGTCACCTGATGTCAACCTTGTGACCCAGCAGCTATCTAAGTCACAGGTGAGAGGGAGGCCCAGGCCATGGGGACACCTGGGTCTGGGCCAAAGGAAAATGGGTTCAGGAAGCGGTCAGTGTTCCACAAAAACTGAGCAGCAGATGGGGCTTTATCTCTGAACGTGTCCTCTTGCTCACAGAAGGAGCATAATGGCAATGAAGAGGTTGTTAGGAGACAAGTTAAATATGGCCTGCAAAGTGCCTAGCCCAGAGATGGGGCCAGCCAGCACTCACTGACTGCCGAGACTGGTGTTAGCACTCCCAGATATCCAGGCGGAGTAGTCAGCAGCATTGGGACAGGGTGGCCTACAGACCTCAGTCTGTCTGCATTGTAACCTGTCATTCCCTGCAGGTGGAGGACCCCCTGCCCCCTGTGTTCTCAGGCACACCAAAGGGCAGTGGGGCTGGCTACGGTGTTGGCTTTGACCTGGAGGAATTCTTAAACCAGTCTTTCGACATGGGCGTGGCTGATGGGCCACAGGATGGGTAAGGTGGCTGGACTGAGCTCCTAGACTGGGACTGTGGGGAGAGGTTCCTGGTGCAGGAGACATGCACCTGTGGGATGGGTGAGGGTCCAGCCTAGGCTAATAGCACCCCTCCCTTTCCTTCCCCTGCAGCCAGGCAGATTCAGCCTCTCTCTCAGCCTCCCTGCTTGCTGACTGGCTCGAAGGCCATGGCATGA 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TGACGTGGGCGACGAGTACGAGATCATCGAGACCATAGGCAACGGGGCCTATGGAGTGGTGTCCTCCGCCCGCCGCCGCCTCACCGGTGAGCTTCCTGAGCCGTCGCCTCCCAGATGTGGCAGCGTCGCAGGGAGTGGGAAACCGGCCTGTCCCAGACAGCCGGGAAGGAAAGCGGGGTGCGAGTTCTGGCTCCAGTCAACACACACTGACCAGGGCCTTCTGCCTGCCAGGCTCCGGGGAGGCTCGGTTCTCTGAAACTCCGGCCTGGTGGTTTTGCCATCCTGCCTGCCTACTTCCTCCTTAGGAAAATGATAGTCCCAGTTAGACCAGAATGGAGAGCCAGTCCTTCGTGTCTAAGAGAGAAATGTGTTCTGGAGCCAGACACTGGCATAAGGAACTGGTGGTGGGATGGGTGAGGTCTGAGATGGAGAGGGTGTAGGCATAAGAGGCTGAGCTACACCACTGGGCATCCGTGCAACCTCCAACAAGTTACTAAGCCATATTTCCTTCTCTTTAACGTTGACCTATTGGGACCTGCCCCGCAGGGGAGTTGTGAAGGTAACATTTAATAATGTAGGTAACATGCTTAGCACAGGGCTTGGCACATAGTAGGTACCCAATACTTGGTAGCTGTTGTCATTTGCATCCTAGAAGGGAGGTGTTGATAGGGGCTGAGTCGACTCTGCAGTTTCTCCAAGGTATCCTCTGGTATGTCCCTTTTCCCTGCTCCTCAGGCCAGCAGGTGGCCATCAAGAAGATCCCTAATGCTTTCGATGTGGTGACCAATGCCAAGCGGACCCTCAGGGAGCTGAAGATCCTCAAGCACTTTAAACACGACAACATCATCGCCATCAAGGACATCCTGAGGCCCACCGTGCCCTATGGCGAATTCAAATCTGTGTAAGAAGCGGGATGGGAGAGGGAGCCAGACTTGGGACTTTTCTGAAGGCTGCAACCATGTTGCCGAAGTTCTGGAAAGGCAGCTGAATCTAATCTGAAGCAGGCTGGGAAAATTCCCGCAGTTCTAGGACCAGTTCTTTAGAGTTTTGCCAGGGACAACTGTTATTCCTCAAGAAGTGTACAGATGATTTTACAGTTTTATAGAATCTTAGTATATAGGATGTCAAATGTAGGACATTCCTACTATGACCACACCCTCCTATTCCCATAGCAGACTTCACTAATCAATCACAGAACACTTTCCTACAGACAGTGGACAAGCCTGGTCAATTTTCATCATAGTTCTTCAAGCTGCCACTACCAAACAATGGAGATAGCCCCAAAAGGAAACCTATTGGCCAGCCCTGGTGTAGTCCAACCCCATCTTTTATCTGATGGGGAAACTAGGTCTGGAGACAAAAGTGATTTAACCAAGTTCATGGAAAAGTCGTAGAGAATCTAAAACGTGATGCTCTTCTTCCATACCATGCCGTCAGCCCCTATGGGGTCCCAGGGTAAGGCTGTTACCTGTCTGGAATCGGAAGGGTGTGGTGAGGATGGGGCTTGTCCCTGGAGTGTGATCAGGCCAACCCATGCTTCTCTCCTTCCTTCCCCTTCCAGCTACGTGGTCCTGGACCTGATGGAAAGCGACCTGCACCAGATCATCCACTCCTCACAGCCCCTCACACTGGAACACGTGCGCTACTTCCTGTACCAACTGCTGCGGGGCCTGAAGTACATGCACTCGGCTCAGGTCATCCACCGTGACCTGAAGCCCTCCAACCTATTGGTGAATGAGAACTGTGAGCTCAAGATTGGTGACTTTGGTATGGCTCGTGGCCTGTGCACCTCGCCCGCTGAACATCAGTACTTCATGACTGAGTATGTGGCCACGCGCTGGTACCGTGCGCCCGAGCTCATGCTCTCTTTGCATGAGTATACACAGGCTATTGACCTCTGGTCTGTGGGCTGCATCTTTGGTGAGATGCTGGCCCGGCGCCAGCTCTTCCCAGGCAAAAACTATGTACACCAGCTACAGCTCATCATGATGGTGCTGGGTACCCCATCACCAGCCGTGATTCAGGCTGTGGGGGCTGAGAGGGTGCGGACCTATATCCAGAGCTTGCCACCACGCCAGCCTGTGCCCTGGGAGACAGTGTACCCAGGTGCCGACCGCCAGGCCCTATCACTGCTGGGTCGCATGCTGCGTTTTGAGCCCAGCGCTCGCATCTCAGCAGCTGCTGCCCTTCGCCACCCTTTCCTGGCCAAGTACCATGATCCTGATGATGAGCCTGACTGTGCCCCGCCCTTTGACTTTGCCTTTGACCGCGAAGCCCTCACTCGGGAGCGCATTAAGGAGGCCATTGTGGCTGAAATTGAGGACTTCCATGCAAGGCGTGAGGGCATCCGCCAACAGATCCGCTTCCAGCCTTCTCTACAGCCTGTGGCTAGTGAGCCTGGCTGTCCAGATGTTGAAATGCCCAGTCCCTGGGCTCCCAGTGGGGACTGTGCCATGGAGTCTCCACCACCAGCCCCGCCACCATGCCCCGGCCCTGCACCTGACACCATTGATCTGACCCTGCAGCCACCTCCACCAGTCAGTGAGCCTGCCCCACCAAAGAAAGATGGTGCCATCTCAGACAATACTAAGGCTGCCCTTAAAGCTGCCCTGCTCAAGTCTTTGAGGAGCCGGCTCAGAGGTGCCTTGTGGGCAGGTCGGGTGGGCAGAGGGGAGACTTGGACTTGGACAAGGCTTCAGGCTTTTACCTTCTCCCCTGCCCAACTTCCCCGCAGATGGCCCCAGCGCACCCCTGGAGGCTCCTGAGCCTCGGAAGCCGGTGACAGCCCAGGAGCGCCAGCGGGAGCGGGAGGAGAAGCGGCGGAGGCGGCAAGAACGAGCCAAGGAGCGGGAGAAACGGCGGCAGGAGCGGGAGCGAAAGGAACGGGGGGCTGGGGCCTCTGGGGGCCCCTCCACTGACCCCTTGGCTGGACTAGTGCTCAGTGACAATGACAGAAGCCTGTTGGAACGCTGGACTCGAATGGCCCGGCCCGCAGCCCCAGCCCTCACCTCTGTGCCGGCCCCTGCCCCAGCGCCAACGCCAACCCCAACCCCAGTCCAACCTACCAGTCCTCCTCCTGGCCCTGTAGCCCAGCCCACTGGCCCGCAACCACAATCTGCGGGCTCTACCTCTGGCCCTGTACCCCAGCCTGCCTGCCCACCCCCTGGCCCTGCACCCCACCCCACTGGCCCTCCTGGGCCCATCCCTGTCCCCGCGCCACCCCAGATTGCCACCTCCACCAGCCTCCTGGCTGCCCAGTCACTTGTGCCACCCCCTGGGCTGCCTGGCTCCAGCACCCCAGGAGTTTTGCCTTACTTCCCACCTGGCCTGCCGCCCCCAGACGCCGGGGGAGCCCCTCAGTCTTCCATGTCAGAGTCACCTGATGTCAACCTTGTGACCCAGCAGCTATCTAAGTCACAGGTGAGAGGGAGGCCCAGGCCATGGGGACACCTGGGTCTGGGCCAAAGGAAAATGGGTTCAGGAAGCGGTCAGTGTTCCACAAAAACTGAGCAGCAGATGGGGCTTTATCTCTGAACGTGTCCTCTTGCTCACAGAAGGAGCATAATGGCAATGAAGAGGTTGTTAGGAGACAAGTTAAATATGGCCTGCAAAGTGCCTAGCCCAGAGATGGGGCCAGCCAGCACTCACTGACTGCCGAGACTGGTGTTAGCACTCCCAGATATCCAGGCGGAGTAGTCAGCAGCATTGGGACAGGGTGGCCTACAGACCTCAGTCTGTCTGCATTGTAACCTGTCATTCCCTGCAGGTGGAGGACCCCCTGCCCCCTGTGTTCTCAGGCACACCAAAGGGCAGTGGGGCTGGCTACGGTGTTGGCTTTGACCTGGAGGAATTCTTAAACCAGTCTTTCGACATGGGCGTGGCTGATGGGCCACAGGATGGGTAAGGTGGCTGGACTGAGCTCCTAGACTGGGACTGTGGGGAGAGGTTCCTGGTGCAGGAGACATGCACCTGTGGGATGGGTGAGGGTCCAGCCTAGGCTAATAGCACCCCTCCCTTTCCTTCCCCTGCAGCCAGGCAGATTCAGCCTCTCTCTCAGCCTCCCTGCTTGCTGACTGGCTCGAAGGCCATGGCATGA 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Task1_train_23873 | A genetic alteration is present in MAPK7 (mitogen-activated protein kinase 7) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Scoliosis, isolated, susceptibility to, 1 | AGTTCTGGAAAGGCAGCTGAATCTAATCTGAAGCAGGCTGGGAAAATTCCCGCAGTTCTAGGACCAGTTCTTTAGAGTTTTGCCAGGGACAACTGTTATTCCTCAAGAAGTGTACAGATGATTTTACAGTTTTATAGAATCTTAGTATATAGGATGTCAAATGTAGGACATTCCTACTATGACCACACCCTCCTATTCCCATAGCAGACTTCACTAATCAATCACAGAACACTTTCCTACAGACAGTGGACAAGCCTGGTCAATTTTCATCATAGTTCTTCAAGCTGCCACTACCAAACAATGGAGATAGCCCCAAAAGGAAACCTATTGGCCAGCCCTGGTGTAGTCCAACCCCATCTTTTATCTGATGGGGAAACTAGGTCTGGAGACAAAAGTGATTTAACCAAGTTCATGGAAAAGTCGTAGAGAATCTAAAACGTGATGCTCTTCTTCCATACCATGCCGTCAGCCCCTATGGGGTCCCAGGGTAAGGCTGTTACCTGTCTGGAATCGGAAGGGTGTGGTGAGGATGGGGCTTGTCCCTGGAGTGTGATCAGGCCAACCCATGCTTCTCTCCTTCCTTCCCCTTCCAGCTACGTGGTCCTGGACCTGATGGAAAGCGACCTGCACCAGATCATCCACTCCTCACAGCCCCTCACACTGGAACACGTGCGCTACTTCCTGTACCAACTGCTGCGGGGCCTGAAGTACATGCACTCGGCTCAGGTCATCCACCGTGACCTGAAGCCCTCCAACCTATTGGTGAATGAGAACTGTGAGCTCAAGATTGGTGACTTTGGTATGGCTCGTGGCCTGTGCACCTCGCCCGCTGAACATCAGTACTTCATGACTGAGTATGTGGCCACGCGCTGGTACCGTGCGCCCGAGCTCATGCTCTCTTTGCATGAGTATACACAGGCTATTGACCTCTGGTCTGTGGGCTGCATCTTTGGTGAGATGCTGGCCCGGCGCCAGCTCTTCCCAGGCAAAAACTATGTACACCAGCTACAGCTCATCATGATGGTGCTGGGTACCCCATCACCAGCCGTGATTCAGGCTGTGGGGGCTGAGAGGGTGCGGGCCTATATCCAGAGCTTGCCACCACGCCAGCCTGTGCCCTGGGAGACAGTGTACCCAGGTGCCGACCGCCAGGCCCTATCACTGCTGGGTCGCATGCTGCGTTTTGAGCCCAGCGCTCGCATCTCAGCAGCTGCTGCCCTTCGCCACCCTTTCCTGGCCAAGTACCATGATCCTGATGATGAGCCTGACTGTGCCCCGCCCTTTGACTTTGCCTTTGACCGCGAAGCCCTCACTCGGGAGCGCATTAAGGAGGCCATTGTGGCTGAAATTGAGGACTTCCATGCAAGGCGTGAGGGCATCCGCCAACAGATCCGCTTCCAGCCTTCTCTACAGCCTGTGGCTAGTGAGCCTGGCTGTCCAGATGTTGAAATGCCCAGTCCCTGGGCTCCCAGTGGGGACTGTGCCATGGAGTCTCCACCACCAGCCCCGCCACCATGCCCCGGCCCTGCACCTGACACCATTGATCTGACCCTGCAGCCACCTCCACCAGTCAGTGAGCCTGCCCCACCAAAGAAAGATGGTGCCATCTCAGACAATACTAAGGCTGCCCTTAAAGCTGCCCTGCTCAAGTCTTTGAGGAGCCGGCTCAGAGGTGCCTTGTGGGCAGGTCGGGTGGGCAGAGGGGAGACTTGGACTTGGACAAGGCTTCAGGCTTTTACCTTCTCCCCTGCCCAACTTCCCCGCAGATGGCCCCAGCGCACCCCTGGAGGCTCCTGAGCCTCGGAAGCCGGTGACAGCCCAGGAGCGCCAGCGGGAGCGGGAGGAGAAGCGGCGGAGGCGGCAAGAACGAGCCAAGGAGCGGGAGAAACGGCGGCAGGAGCGGGAGCGAAAGGAACGGGGGGCTGGGGCCTCTGGGGGCCCCTCCACTGACCCCTTGGCTGGACTAGTGCTCAGTGACAATGACAGAAGCCTGTTGGAACGCTGGACTCGAATGGCCCGGCCCGCAGCCCCAGCCCTCACCTCTGTGCCGGCCCCTGCCCCAGCGCCAACGCCAACCCCAACCCCAGTCCAACCTACCAGTCCTCCTCCTGGCCCTGTAGCCCAGCCCACTGGCCCGCAACCACAATCTGCGGGCTCTACCTCTGGCCCTGTACCCCAGCCTGCCTGCCCACCCCCTGGCCCTGCACCCCACCCCACTGGCCCTCCTGGGCCCATCCCTGTCCCCGCGCCACCCCAGATTGCCACCTCCACCAGCCTCCTGGCTGCCCAGTCACTTGTGCCACCCCCTGGGCTGCCTGGCTCCAGCACCCCAGGAGTTTTGCCTTACTTCCCACCTGGCCTGCCGCCCCCAGACGCCGGGGGAGCCCCTCAGTCTTCCATGTCAGAGTCACCTGATGTCAACCTTGTGACCCAGCAGCTATCTAAGTCACAGGTGAGAGGGAGGCCCAGGCCATGGGGACACCTGGGTCTGGGCCAAAGGAAAATGGGTTCAGGAAGCGGTCAGTGTTCCACAAAAACTGAGCAGCAGATGGGGCTTTATCTCTGAACGTGTCCTCTTGCTCACAGAAGGAGCATAATGGCAATGAAGAGGTTGTTAGGAGACAAGTTAAATATGGCCTGCAAAGTGCCTAGCCCAGAGATGGGGCCAGCCAGCACTCACTGACTGCCGAGACTGGTGTTAGCACTCCCAGATATCCAGGCGGAGTAGTCAGCAGCATTGGGACAGGGTGGCCTACAGACCTCAGTCTGTCTGCATTGTAACCTGTCATTCCCTGCAGGTGGAGGACCCCCTGCCCCCTGTGTTCTCAGGCACACCAAAGGGCAGTGGGGCTGGCTACGGTGTTGGCTTTGACCTGGAGGAATTCTTAAACCAGTCTTTCGACATGGGCGTGGCTGATGGGCCACAGGATGGGTAAGGTGGCTGGACTGAGCTCCTAGACTGGGACTGTGGGGAGAGGTTCCTGGTGCAGGAGACATGCACCTGTGGGATGGGTGAGGGTCCAGCCTAGGCTAATAGCACCCCTCCCTTTCCTTCCCCTGCAGCCAGGCAGATTCAGCCTCTCTCTCAGCCTCCCTGCTTGCTGACTGGCTCGAAGGCCATGGCATGAACCCTGCCGATATTGAGTCCCTGCAGCGTGAGATCCAGATGGACTCCCCAATGCTGCTGGCTGACCTGCCTGACCTCCAGGACCCCTGAGGCCCCCAGCCTGTGCCTTGCTGCCACAGTAGACCTAGTTCCAGGATCCATGGGAGCATTCTCAAAGGCTTTAGCCCTGGACCCAGCAGGTGAGGCTCGGCTTGGATTATTCTGCAGGTTCATCTCAGACCCACCTTTCAGCCTTAAGCAGCCACCTGAGCCACCACCGAGCCATGGCAGGATCGGGAGACCCCAACTCCCCCTGAACAATCCTTTTCAGTATTATATTTTTATTATTATTATGTTATTATTACACTGTCTTTTTGCCATCAAAATGAGGCCTGTGAAATACAAGGTTCCCTTCTGCACCTGACTCCAGGTGTAATTTTTGGAGTTCGGGGTAGGACACCATCAGCAGGGGAGCAAGGAGGAGCCAGGTGCCTACATTTGGGGGATAAACAAATATGTTTGTGTGTATGAAGCCAGTTCATTCAGGTTCTGAAGGTTTATTGAGACCTTCAGTCCCTACCCACTCCCAGCCCTGCAGAGATTGTCCTCTGCTCCCTCATGTGGCTAAACCTCTCAACACCCAGAGGGTATGGGGAAGACCTCATATGCATGCCTACCTTGGCTGTGGCTGTTTCAGGGTGGTGTGCGGTAGCTGTGTTCTTGGCATAGAGCTTCAGGGGCTGGGATGGGCCATCAGGGGAAGCTGAGTATGATAGTGAGGTGGGCTGGGGTTCCACGGTACTCACCACAGGGGAGTAAGTTGGTGGGAGGGATGCTGAAGATGGGACATGGTTTGAGAGCAGCCCAGAGGAGTGCTGGGCTGTGGCCTAGAATACACCATGGGCCCTGTTCACACTGCACTGCTCAGCTTAGCACACTAGGGTGGCCCAGACAGGGGTCCACAGTGAGGAAGCAGGACAAGATGGACCA 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AGTTCTGGAAAGGCAGCTGAATCTAATCTGAAGCAGGCTGGGAAAATTCCCGCAGTTCTAGGACCAGTTCTTTAGAGTTTTGCCAGGGACAACTGTTATTCCTCAAGAAGTGTACAGATGATTTTACAGTTTTATAGAATCTTAGTATATAGGATGTCAAATGTAGGACATTCCTACTATGACCACACCCTCCTATTCCCATAGCAGACTTCACTAATCAATCACAGAACACTTTCCTACAGACAGTGGACAAGCCTGGTCAATTTTCATCATAGTTCTTCAAGCTGCCACTACCAAACAATGGAGATAGCCCCAAAAGGAAACCTATTGGCCAGCCCTGGTGTAGTCCAACCCCATCTTTTATCTGATGGGGAAACTAGGTCTGGAGACAAAAGTGATTTAACCAAGTTCATGGAAAAGTCGTAGAGAATCTAAAACGTGATGCTCTTCTTCCATACCATGCCGTCAGCCCCTATGGGGTCCCAGGGTAAGGCTGTTACCTGTCTGGAATCGGAAGGGTGTGGTGAGGATGGGGCTTGTCCCTGGAGTGTGATCAGGCCAACCCATGCTTCTCTCCTTCCTTCCCCTTCCAGCTACGTGGTCCTGGACCTGATGGAAAGCGACCTGCACCAGATCATCCACTCCTCACAGCCCCTCACACTGGAACACGTGCGCTACTTCCTGTACCAACTGCTGCGGGGCCTGAAGTACATGCACTCGGCTCAGGTCATCCACCGTGACCTGAAGCCCTCCAACCTATTGGTGAATGAGAACTGTGAGCTCAAGATTGGTGACTTTGGTATGGCTCGTGGCCTGTGCACCTCGCCCGCTGAACATCAGTACTTCATGACTGAGTATGTGGCCACGCGCTGGTACCGTGCGCCCGAGCTCATGCTCTCTTTGCATGAGTATACACAGGCTATTGACCTCTGGTCTGTGGGCTGCATCTTTGGTGAGATGCTGGCCCGGCGCCAGCTCTTCCCAGGCAAAAACTATGTACACCAGCTACAGCTCATCATGATGGTGCTGGGTACCCCATCACCAGCCGTGATTCAGGCTGTGGGGGCTGAGAGGGTGCGGGCCTATATCCAGAGCTTGCCACCACGCCAGCCTGTGCCCTGGGAGACAGTGTACCCAGGTGCCGACCGCCAGGCCCTATCACTGCTGGGTCGCATGCTGCGTTTTGAGCCCAGCGCTCGCATCTCAGCAGCTGCTGCCCTTCGCCACCCTTTCCTGGCCAAGTACCATGATCCTGATGATGAGCCTGACTGTGCCCCGCCCTTTGACTTTGCCTTTGACCGCGAAGCCCTCACTCGGGAGCGCATTAAGGAGGCCATTGTGGCTGAAATTGAGGACTTCCATGCAAGGCGTGAGGGCATCCGCCAACAGATCCGCTTCCAGCCTTCTCTACAGCCTGTGGCTAGTGAGCCTGGCTGTCCAGATGTTGAAATGCCCAGTCCCTGGGCTCCCAGTGGGGACTGTGCCATGGAGTCTCCACCACCAGCCCCGCCACCATGCCCCGGCCCTGCACCTGACACCATTGATCTGACCCTGCAGCCACCTCCACCAGTCAGTGAGCCTGCCCCACCAAAGAAAGATGGTGCCATCTCAGACAATACTAAGGCTGCCCTTAAAGCTGCCCTGCTCAAGTCTTTGAGGAGCCGGCTCAGAGGTGCCTTGTGGGCAGGTCGGGTGGGCAGAGGGGAGACTTGGACTTGGACAAGGCTTCAGGCTTTTACCTTCTCCCCTGCCCAACTTCCCCGCAGATGGCCCCAGCGCACCCCTGGAGGCTCCTGAGCCTCGGAAGCCGGTGACAGCCCAGGAGCGCCAGCGGGAGCGGGAGGAGAAGCGGCGGAGGCGGCAAGAACGAGCCAAGGAGCGGGAGAAACGGCGGCAGGAGCGGGAGCGAAAGGAACGGGGGGCTGGGGCCTCTGGGGGCCCCTCCACTGACCCCTTGGCTGGACTAGTGCTCAGTGACAATGACAGAAGCCTGTTGGAACGCTGGACTCGAATGGCCCGGCCCGCAGCCCCAGCCCTCACCTCTGTGCTGGCCCCTGCCCCAGCGCCAACGCCAACCCCAACCCCAGTCCAACCTACCAGTCCTCCTCCTGGCCCTGTAGCCCAGCCCACTGGCCCGCAACCACAATCTGCGGGCTCTACCTCTGGCCCTGTACCCCAGCCTGCCTGCCCACCCCCTGGCCCTGCACCCCACCCCACTGGCCCTCCTGGGCCCATCCCTGTCCCCGCGCCACCCCAGATTGCCACCTCCACCAGCCTCCTGGCTGCCCAGTCACTTGTGCCACCCCCTGGGCTGCCTGGCTCCAGCACCCCAGGAGTTTTGCCTTACTTCCCACCTGGCCTGCCGCCCCCAGACGCCGGGGGAGCCCCTCAGTCTTCCATGTCAGAGTCACCTGATGTCAACCTTGTGACCCAGCAGCTATCTAAGTCACAGGTGAGAGGGAGGCCCAGGCCATGGGGACACCTGGGTCTGGGCCAAAGGAAAATGGGTTCAGGAAGCGGTCAGTGTTCCACAAAAACTGAGCAGCAGATGGGGCTTTATCTCTGAACGTGTCCTCTTGCTCACAGAAGGAGCATAATGGCAATGAAGAGGTTGTTAGGAGACAAGTTAAATATGGCCTGCAAAGTGCCTAGCCCAGAGATGGGGCCAGCCAGCACTCACTGACTGCCGAGACTGGTGTTAGCACTCCCAGATATCCAGGCGGAGTAGTCAGCAGCATTGGGACAGGGTGGCCTACAGACCTCAGTCTGTCTGCATTGTAACCTGTCATTCCCTGCAGGTGGAGGACCCCCTGCCCCCTGTGTTCTCAGGCACACCAAAGGGCAGTGGGGCTGGCTACGGTGTTGGCTTTGACCTGGAGGAATTCTTAAACCAGTCTTTCGACATGGGCGTGGCTGATGGGCCACAGGATGGGTAAGGTGGCTGGACTGAGCTCCTAGACTGGGACTGTGGGGAGAGGTTCCTGGTGCAGGAGACATGCACCTGTGGGATGGGTGAGGGTCCAGCCTAGGCTAATAGCACCCCTCCCTTTCCTTCCCCTGCAGCCAGGCAGATTCAGCCTCTCTCTCAGCCTCCCTGCTTGCTGACTGGCTCGAAGGCCATGGCATGAACCCTGCCGATATTGAGTCCCTGCAGCGTGAGATCCAGATGGACTCCCCAATGCTGCTGGCTGACCTGCCTGACCTCCAGGACCCCTGAGGCCCCCAGCCTGTGCCTTGCTGCCACAGTAGACCTAGTTCCAGGATCCATGGGAGCATTCTCAAAGGCTTTAGCCCTGGACCCAGCAGGTGAGGCTCGGCTTGGATTATTCTGCAGGTTCATCTCAGACCCACCTTTCAGCCTTAAGCAGCCACCTGAGCCACCACCGAGCCATGGCAGGATCGGGAGACCCCAACTCCCCCTGAACAATCCTTTTCAGTATTATATTTTTATTATTATTATGTTATTATTACACTGTCTTTTTGCCATCAAAATGAGGCCTGTGAAATACAAGGTTCCCTTCTGCACCTGACTCCAGGTGTAATTTTTGGAGTTCGGGGTAGGACACCATCAGCAGGGGAGCAAGGAGGAGCCAGGTGCCTACATTTGGGGGATAAACAAATATGTTTGTGTGTATGAAGCCAGTTCATTCAGGTTCTGAAGGTTTATTGAGACCTTCAGTCCCTACCCACTCCCAGCCCTGCAGAGATTGTCCTCTGCTCCCTCATGTGGCTAAACCTCTCAACACCCAGAGGGTATGGGGAAGACCTCATATGCATGCCTACCTTGGCTGTGGCTGTTTCAGGGTGGTGTGCGGTAGCTGTGTTCTTGGCATAGAGCTTCAGGGGCTGGGATGGGCCATCAGGGGAAGCTGAGTATGATAGTGAGGTGGGCTGGGGTTCCACGGTACTCACCACAGGGGAGTAAGTTGGTGGGAGGGATGCTGAAGATGGGACATGGTTTGAGAGCAGCCCAGAGGAGTGCTGGGCTGTGGCCTAGAATACACCATGGGCCCTGTTCACACTGCACTGCTCAGCTTAGCACACTAGGGTGGCCCAGACAGGGGTCCACAGTGAGGAAGCAGGACAAGATGGACCA 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Task1_train_23874 | A mutation in MAPK7 (mitogen-activated protein kinase 7), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Scoliosis, isolated, susceptibility to, 1 | CACACCCTCCTATTCCCATAGCAGACTTCACTAATCAATCACAGAACACTTTCCTACAGACAGTGGACAAGCCTGGTCAATTTTCATCATAGTTCTTCAAGCTGCCACTACCAAACAATGGAGATAGCCCCAAAAGGAAACCTATTGGCCAGCCCTGGTGTAGTCCAACCCCATCTTTTATCTGATGGGGAAACTAGGTCTGGAGACAAAAGTGATTTAACCAAGTTCATGGAAAAGTCGTAGAGAATCTAAAACGTGATGCTCTTCTTCCATACCATGCCGTCAGCCCCTATGGGGTCCCAGGGTAAGGCTGTTACCTGTCTGGAATCGGAAGGGTGTGGTGAGGATGGGGCTTGTCCCTGGAGTGTGATCAGGCCAACCCATGCTTCTCTCCTTCCTTCCCCTTCCAGCTACGTGGTCCTGGACCTGATGGAAAGCGACCTGCACCAGATCATCCACTCCTCACAGCCCCTCACACTGGAACACGTGCGCTACTTCCTGTACCAACTGCTGCGGGGCCTGAAGTACATGCACTCGGCTCAGGTCATCCACCGTGACCTGAAGCCCTCCAACCTATTGGTGAATGAGAACTGTGAGCTCAAGATTGGTGACTTTGGTATGGCTCGTGGCCTGTGCACCTCGCCCGCTGAACATCAGTACTTCATGACTGAGTATGTGGCCACGCGCTGGTACCGTGCGCCCGAGCTCATGCTCTCTTTGCATGAGTATACACAGGCTATTGACCTCTGGTCTGTGGGCTGCATCTTTGGTGAGATGCTGGCCCGGCGCCAGCTCTTCCCAGGCAAAAACTATGTACACCAGCTACAGCTCATCATGATGGTGCTGGGTACCCCATCACCAGCCGTGATTCAGGCTGTGGGGGCTGAGAGGGTGCGGGCCTATATCCAGAGCTTGCCACCACGCCAGCCTGTGCCCTGGGAGACAGTGTACCCAGGTGCCGACCGCCAGGCCCTATCACTGCTGGGTCGCATGCTGCGTTTTGAGCCCAGCGCTCGCATCTCAGCAGCTGCTGCCCTTCGCCACCCTTTCCTGGCCAAGTACCATGATCCTGATGATGAGCCTGACTGTGCCCCGCCCTTTGACTTTGCCTTTGACCGCGAAGCCCTCACTCGGGAGCGCATTAAGGAGGCCATTGTGGCTGAAATTGAGGACTTCCATGCAAGGCGTGAGGGCATCCGCCAACAGATCCGCTTCCAGCCTTCTCTACAGCCTGTGGCTAGTGAGCCTGGCTGTCCAGATGTTGAAATGCCCAGTCCCTGGGCTCCCAGTGGGGACTGTGCCATGGAGTCTCCACCACCAGCCCCGCCACCATGCCCCGGCCCTGCACCTGACACCATTGATCTGACCCTGCAGCCACCTCCACCAGTCAGTGAGCCTGCCCCACCAAAGAAAGATGGTGCCATCTCAGACAATACTAAGGCTGCCCTTAAAGCTGCCCTGCTCAAGTCTTTGAGGAGCCGGCTCAGAGGTGCCTTGTGGGCAGGTCGGGTGGGCAGAGGGGAGACTTGGACTTGGACAAGGCTTCAGGCTTTTACCTTCTCCCCTGCCCAACTTCCCCGCAGATGGCCCCAGCGCACCCCTGGAGGCTCCTGAGCCTCGGAAGCCGGTGACAGCCCAGGAGCGCCAGCGGGAGCGGGAGGAGAAGCGGCGGAGGCGGCAAGAACGAGCCAAGGAGCGGGAGAAACGGCGGCAGGAGCGGGAGCGAAAGGAACGGGGGGCTGGGGCCTCTGGGGGCCCCTCCACTGACCCCTTGGCTGGACTAGTGCTCAGTGACAATGACAGAAGCCTGTTGGAACGCTGGACTCGAATGGCCCGGCCCGCAGCCCCAGCCCTCACCTCTGTGCCGGCCCCTGCCCCAGCGCCAACGCCAACCCCAACCCCAGTCCAACCTACCAGTCCTCCTCCTGGCCCTGTAGCCCAGCCCACTGGCCCGCAACCACAATCTGCGGGCTCTACCTCTGGCCCTGTACCCCAGCCTGCCTGCCCACCCCCTGGCCCTGCACCCCACCCCACTGGCCCTCCTGGGCCCATCCCTGTCCCCGCGCCACCCCAGATTGCCACCTCCACCAGCCTCCTGGCTGCCCAGTCACTTGTGCCACCCCCTGGGCTGCCTGGCTCCAGCACCCCAGGAGTTTTGCCTTACTTCCCACCTGGCCTGCCGCCCCCAGACGCCGGGGGAGCCCCTCAGTCTTCCATGTCAGAGTCACCTGATGTCAACCTTGTGACCCAGCAGCTATCTAAGTCACAGGTGAGAGGGAGGCCCAGGCCATGGGGACACCTGGGTCTGGGCCAAAGGAAAATGGGTTCAGGAAGCGGTCAGTGTTCCACAAAAACTGAGCAGCAGATGGGGCTTTATCTCTGAACGTGTCCTCTTGCTCACAGAAGGAGCATAATGGCAATGAAGAGGTTGTTAGGAGACAAGTTAAATATGGCCTGCAAAGTGCCTAGCCCAGAGATGGGGCCAGCCAGCACTCACTGACTGCCGAGACTGGTGTTAGCACTCCCAGATATCCAGGCGGAGTAGTCAGCAGCATTGGGACAGGGTGGCCTACAGACCTCAGTCTGTCTGCATTGTAACCTGTCATTCCCTGCAGGTGGAGGACCCCCTGCCCCCTGTGTTCTCAGGCACACCAAAGGGCAGTGGGGCTGGCTACGGTGTTGGCTTTGACCTGGAGGAATTCTTAAACCAGTCTTTCGACATGGGCGTGGCTGATGGGCCACAGGATGGGTAAGGTGGCTGGACTGAGCTCCTAGACTGGGACTGTGGGGAGAGGTTCCTGGTGCAGGAGACATGCACCTGTGGGATGGGTGAGGGTCCAGCCTAGGCTAATAGCACCCCTCCCTTTCCTTCCCCTGCAGCCAGGCAGATTCAGCCTCTCTCTCAGCCTCCCTGCTTGCTGACTGGCTCGAAGGCCATGGCATGAACCCTGCCGATATTGAGTCCCTGCAGCGTGAGATCCAGATGGACTCCCCAATGCTGCTGGCTGACCTGCCTGACCTCCAGGACCCCTGAGGCCCCCAGCCTGTGCCTTGCTGCCACAGTAGACCTAGTTCCAGGATCCATGGGAGCATTCTCAAAGGCTTTAGCCCTGGACCCAGCAGGTGAGGCTCGGCTTGGATTATTCTGCAGGTTCATCTCAGACCCACCTTTCAGCCTTAAGCAGCCACCTGAGCCACCACCGAGCCATGGCAGGATCGGGAGACCCCAACTCCCCCTGAACAATCCTTTTCAGTATTATATTTTTATTATTATTATGTTATTATTACACTGTCTTTTTGCCATCAAAATGAGGCCTGTGAAATACAAGGTTCCCTTCTGCACCTGACTCCAGGTGTAATTTTTGGAGTTCGGGGTAGGACACCATCAGCAGGGGAGCAAGGAGGAGCCAGGTGCCTACATTTGGGGGATAAACAAATATGTTTGTGTGTATGAAGCCAGTTCATTCAGGTTCTGAAGGTTTATTGAGACCTTCAGTCCCTACCCACTCCCAGCCCTGCAGAGATTGTCCTCTGCTCCCTCATGTGGCTAAACCTCTCAACACCCAGAGGGTATGGGGAAGACCTCATATGCATGCCTACCTTGGCTGTGGCTGTTTCAGGGTGGTGTGCGGTAGCTGTGTTCTTGGCATAGAGCTTCAGGGGCTGGGATGGGCCATCAGGGGAAGCTGAGTATGATAGTGAGGTGGGCTGGGGTTCCACGGTACTCACCACAGGGGAGTAAGTTGGTGGGAGGGATGCTGAAGATGGGACATGGTTTGAGAGCAGCCCAGAGGAGTGCTGGGCTGTGGCCTAGAATACACCATGGGCCCTGTTCACACTGCACTGCTCAGCTTAGCACACTAGGGTGGCCCAGACAGGGGTCCACAGTGAGGAAGCAGGACAAGATGGACCACAAAGGCCTGCAGCTGGGAGAGTGGCTCCTGGCTGTCAGCTGTTGGGACAGGTTGGAGGCAACTCATTCTCATGGAGCCCAGCCAGGTCCAGGCTAGAACCATGTGCCTCTCGGAAGAGGCCTGGGGAACTGCTGGCAGTGTAACTTCAGGTGTAGGGGAGCCGGGTCTGGCTTAGGAATGGA 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CACACCCTCCTATTCCCATAGCAGACTTCACTAATCAATCACAGAACACTTTCCTACAGACAGTGGACAAGCCTGGTCAATTTTCATCATAGTTCTTCAAGCTGCCACTACCAAACAATGGAGATAGCCCCAAAAGGAAACCTATTGGCCAGCCCTGGTGTAGTCCAACCCCATCTTTTATCTGATGGGGAAACTAGGTCTGGAGACAAAAGTGATTTAACCAAGTTCATGGAAAAGTCGTAGAGAATCTAAAACGTGATGCTCTTCTTCCATACCATGCCGTCAGCCCCTATGGGGTCCCAGGGTAAGGCTGTTACCTGTCTGGAATCGGAAGGGTGTGGTGAGGATGGGGCTTGTCCCTGGAGTGTGATCAGGCCAACCCATGCTTCTCTCCTTCCTTCCCCTTCCAGCTACGTGGTCCTGGACCTGATGGAAAGCGACCTGCACCAGATCATCCACTCCTCACAGCCCCTCACACTGGAACACGTGCGCTACTTCCTGTACCAACTGCTGCGGGGCCTGAAGTACATGCACTCGGCTCAGGTCATCCACCGTGACCTGAAGCCCTCCAACCTATTGGTGAATGAGAACTGTGAGCTCAAGATTGGTGACTTTGGTATGGCTCGTGGCCTGTGCACCTCGCCCGCTGAACATCAGTACTTCATGACTGAGTATGTGGCCACGCGCTGGTACCGTGCGCCCGAGCTCATGCTCTCTTTGCATGAGTATACACAGGCTATTGACCTCTGGTCTGTGGGCTGCATCTTTGGTGAGATGCTGGCCCGGCGCCAGCTCTTCCCAGGCAAAAACTATGTACACCAGCTACAGCTCATCATGATGGTGCTGGGTACCCCATCACCAGCCGTGATTCAGGCTGTGGGGGCTGAGAGGGTGCGGGCCTATATCCAGAGCTTGCCACCACGCCAGCCTGTGCCCTGGGAGACAGTGTACCCAGGTGCCGACCGCCAGGCCCTATCACTGCTGGGTCGCATGCTGCGTTTTGAGCCCAGCGCTCGCATCTCAGCAGCTGCTGCCCTTCGCCACCCTTTCCTGGCCAAGTACCATGATCCTGATGATGAGCCTGACTGTGCCCCGCCCTTTGACTTTGCCTTTGACCGCGAAGCCCTCACTCGGGAGCGCATTAAGGAGGCCATTGTGGCTGAAATTGAGGACTTCCATGCAAGGCGTGAGGGCATCCGCCAACAGATCCGCTTCCAGCCTTCTCTACAGCCTGTGGCTAGTGAGCCTGGCTGTCCAGATGTTGAAATGCCCAGTCCCTGGGCTCCCAGTGGGGACTGTGCCATGGAGTCTCCACCACCAGCCCCGCCACCATGCCCCGGCCCTGCACCTGACACCATTGATCTGACCCTGCAGCCACCTCCACCAGTCAGTGAGCCTGCCCCACCAAAGAAAGATGGTGCCATCTCAGACAATACTAAGGCTGCCCTTAAAGCTGCCCTGCTCAAGTCTTTGAGGAGCCGGCTCAGAGGTGCCTTGTGGGCAGGTCGGGTGGGCAGAGGGGAGACTTGGACTTGGACAAGGCTTCAGGCTTTTACCTTCTCCCCTGCCCAACTTCCCCGCAGATGGCCCCAGCGCACCCCTGGAGGCTCCTGAGCCTCGGAAGCCGGTGACAGCCCAGGAGCGCCAGCGGGAGCGGGAGGAGAAGCGGCGGAGGCGGCAAGAACGAGCCAAGGAGCGGGAGAAACGGCGGCAGGAGCGGGAGCGAAAGGAACGGGGGGCTGGGGCCTCTGGGGGCCCCTCCACTGACCCCTTGGCTGGACTAGTGCTCAGTGACAATGACAGAAGCCTGTTGGAACGCTGGACTCGAATGGCCCGGCCCGCAGCCCCAGCCCTCACCTCTGTGCCGGCCCCTGCCCCAGCGCCAACGCCAACCCCAACCCCAGTCCAACCTACCAGTCCTCCTCCTGGCCCTGTAGCCCAGCCCACTGGCCCGCAACCACAATCTGCGGGCTCTACCTCTGGCCCTGTACCCCAGCCTGCCTGCCCACCCCCTGGCCCTGCACCCCACCCCACTGGCCCTCCTGGGCTCATCCCTGTCCCCGCGCCACCCCAGATTGCCACCTCCACCAGCCTCCTGGCTGCCCAGTCACTTGTGCCACCCCCTGGGCTGCCTGGCTCCAGCACCCCAGGAGTTTTGCCTTACTTCCCACCTGGCCTGCCGCCCCCAGACGCCGGGGGAGCCCCTCAGTCTTCCATGTCAGAGTCACCTGATGTCAACCTTGTGACCCAGCAGCTATCTAAGTCACAGGTGAGAGGGAGGCCCAGGCCATGGGGACACCTGGGTCTGGGCCAAAGGAAAATGGGTTCAGGAAGCGGTCAGTGTTCCACAAAAACTGAGCAGCAGATGGGGCTTTATCTCTGAACGTGTCCTCTTGCTCACAGAAGGAGCATAATGGCAATGAAGAGGTTGTTAGGAGACAAGTTAAATATGGCCTGCAAAGTGCCTAGCCCAGAGATGGGGCCAGCCAGCACTCACTGACTGCCGAGACTGGTGTTAGCACTCCCAGATATCCAGGCGGAGTAGTCAGCAGCATTGGGACAGGGTGGCCTACAGACCTCAGTCTGTCTGCATTGTAACCTGTCATTCCCTGCAGGTGGAGGACCCCCTGCCCCCTGTGTTCTCAGGCACACCAAAGGGCAGTGGGGCTGGCTACGGTGTTGGCTTTGACCTGGAGGAATTCTTAAACCAGTCTTTCGACATGGGCGTGGCTGATGGGCCACAGGATGGGTAAGGTGGCTGGACTGAGCTCCTAGACTGGGACTGTGGGGAGAGGTTCCTGGTGCAGGAGACATGCACCTGTGGGATGGGTGAGGGTCCAGCCTAGGCTAATAGCACCCCTCCCTTTCCTTCCCCTGCAGCCAGGCAGATTCAGCCTCTCTCTCAGCCTCCCTGCTTGCTGACTGGCTCGAAGGCCATGGCATGAACCCTGCCGATATTGAGTCCCTGCAGCGTGAGATCCAGATGGACTCCCCAATGCTGCTGGCTGACCTGCCTGACCTCCAGGACCCCTGAGGCCCCCAGCCTGTGCCTTGCTGCCACAGTAGACCTAGTTCCAGGATCCATGGGAGCATTCTCAAAGGCTTTAGCCCTGGACCCAGCAGGTGAGGCTCGGCTTGGATTATTCTGCAGGTTCATCTCAGACCCACCTTTCAGCCTTAAGCAGCCACCTGAGCCACCACCGAGCCATGGCAGGATCGGGAGACCCCAACTCCCCCTGAACAATCCTTTTCAGTATTATATTTTTATTATTATTATGTTATTATTACACTGTCTTTTTGCCATCAAAATGAGGCCTGTGAAATACAAGGTTCCCTTCTGCACCTGACTCCAGGTGTAATTTTTGGAGTTCGGGGTAGGACACCATCAGCAGGGGAGCAAGGAGGAGCCAGGTGCCTACATTTGGGGGATAAACAAATATGTTTGTGTGTATGAAGCCAGTTCATTCAGGTTCTGAAGGTTTATTGAGACCTTCAGTCCCTACCCACTCCCAGCCCTGCAGAGATTGTCCTCTGCTCCCTCATGTGGCTAAACCTCTCAACACCCAGAGGGTATGGGGAAGACCTCATATGCATGCCTACCTTGGCTGTGGCTGTTTCAGGGTGGTGTGCGGTAGCTGTGTTCTTGGCATAGAGCTTCAGGGGCTGGGATGGGCCATCAGGGGAAGCTGAGTATGATAGTGAGGTGGGCTGGGGTTCCACGGTACTCACCACAGGGGAGTAAGTTGGTGGGAGGGATGCTGAAGATGGGACATGGTTTGAGAGCAGCCCAGAGGAGTGCTGGGCTGTGGCCTAGAATACACCATGGGCCCTGTTCACACTGCACTGCTCAGCTTAGCACACTAGGGTGGCCCAGACAGGGGTCCACAGTGAGGAAGCAGGACAAGATGGACCACAAAGGCCTGCAGCTGGGAGAGTGGCTCCTGGCTGTCAGCTGTTGGGACAGGTTGGAGGCAACTCATTCTCATGGAGCCCAGCCAGGTCCAGGCTAGAACCATGTGCCTCTCGGAAGAGGCCTGGGGAACTGCTGGCAGTGTAACTTCAGGTGTAGGGGAGCCGGGTCTGGCTTAGGAATGGA 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Task1_train_23875 | Given this variant in gene ALDH3A2 (aldehyde dehydrogenase 3 family member A2) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Sjögren-Larsson syndrome | GGCCCGGCGAGAATTCGAGTGTGGCGCTGGTGGGCTGGCATTGCTGGGGGACCCGGGGCACCCTCCTCAGCAGCTGGCCCAGGTGCTAAGCCCCTCATTGCCCAGGGCTGGCGGCGCCGGCCAGCTGCTCCGAGTGTGGGGCCCATTGAGCCTGCGCCCACCCAGAACTCGCTCTGGCTTGTGAGCGCCACGCGCAGCCCCGGTTCCTGCCTGCGCCTCTCCCTCCACACCTTCCCACAAGCAGAAGGAGCCGGCTCCAGCCTTGGCCAGCCCAGAGAGGGGCTCCCACAGTGCAGCTGTGGGCTGAAGGGCTCCTCAAGCGTGGCGAGAGTGGGTGCCAAGGCCAAGGAGGTGCTGAGAGCGAGCAAGGGTTGCCCGCACGCTCTCACCTCTCACCCAGCCTATAAGAGTACTTCTGCTTTCAAAAAAGACATGTCTGTGGCATGAAAACATGCCACACATACACAAAAAGTGCCCTCCTGAACTAGAGGGCAGATCCTCACACTGACTTAACATGCTGGCATTTAAGAATATCAAGAACTGAATAAAGAAAATGATCTGCCCAACTGCGGGTAGTTCATCTGTCTGAGTCAGAGGTTCTTATGCCTTCCTGGGGAGGAAGTTATGATGCCGCGAAGAAATTGGCACTGCTGAGTTCTACATGCAGTTGCTACAGGGAGGAGTCTTCATTTAGCTTTAAGCGAAATACAGCTTAAAAATATCTTACCTGTATTCTGTACATCAACTTGTGATGGATTGAGGCCAGTTCTGGTTCTTGGAATGATATTTTTCTCTTTGTTAGAGCCATTTTGTTCTAATAGCTGTGATGATCCAATCAAGAAAGATGAAATGGAAGACAGTGAGATGTCAAGGATTGAATAGGACGTAGAACCAGAAGATAGAGGTTGAAGGTACCGCTTTGCCCCTGACCAGGGGTAAATTCTTCAATAACTGACTCTGTCCGGATAAGGAGGATAATAATGCTCTACCAGCTTCAGTTACCGTGTTAGGGGATCAATAATATATGCTATGTAGATTAAGCCATAGAAAAGTTAAAGCTTGAAACATTTGTTGGGCAGCTGAACCATGAAGTGAATGAAATTAATTCGCCTTCAAGTGGAAACATGAGATCCACAAGCCAGCTTTTACTTCACACTTCCACCTTGGAGTCTTGAATACCTCTCTGTCTTCCTTGCTTGCCATCTGTTCTCTTACTTTTGATGCTGTTATTGTCCAAGATGTTCTCTCTTAGAATAGCTGGTAATGATAGCACAATGCATAGATGGGCTCAGTCCACAGAAGCTACGTGAATTCTCCCAGTAACAGATGAGGAAATTGAGGCTCAGAGATGTTCAGTAGCTTGCCTAAGGTTGCATAAGCTAGTGAGTGGCAGAGCCCAGATTCAAACCAGATACACTTCAAAAGCAAGCGCTCTCAGCTACTGTGCCGGATATACCATTCATTCAGAATAGCGTGGGCTAAGCCCACTCTGTGTTGTGAGACAGAGAACATTCAGACTAAGACATGCATGACCTGTCCTGTGGGAGCCACTCTTCACCAGAGGCACTTCTGCACACACCCGCGTCTCATGCATTTTCCCTGGTCAAATTCAACCATTTGTTCTCCTTAGTGTCTTTGTTGCTGAGCTCATGTAAAAAAACACTGGAGTCTCCAGATTAGTTCTATGTGGGTTCATGCTTCCCAGATGCCATCGGACTGTGTGTTCTCCTCTTGTCCTTGGTCAGTTCCCTCTCCCATCCCTCACAGGGACTGGTCTTGACACTCTCTGGGTTTTACTGAATGTTACATGTTTATGTTGAAGAGATTGCTGATGTTAGACGTTAGGATTTATTTGGCAGTGCAAGAGTTTGTGTTTCTCTTTCTTTGAGGATCTCTATATTGTTATTAATGGTGGTGTTGAGGAAACCACGGAGCTCCTGAAGCAGCGATTTGACCACATTTTCTATACGGGAAACACTGCGGTTGGCAAAATTGTCATGGAAGCTGCTGCCAAGCATCTGACCCCTGTGACTCTTGAACTGGGAGGGAAAAGTCCATGTTATATTGATAAAGATTGTGACCTGGACATTGTTTGCAGGTGAGTCTGGCTCTCTGATTTTCTGAGGTTTTCCCAGCACAATGGAGACTTTTCCTGACAATGTTACTCTTTGTACTTGAACCCCATACCTTATGGCTCCAAGATACATTATTAAGCTTTGGTGGTTGATGTCCTCAAGAGTAACAGGAGTCTTTCACTGTCTCTTGGCGCCACTGTCAAAAATGGTGAGCTGTAAGTCCTGACATCATGTGGTTGTCCTTAGGAATTTTAAAAAAGTTATATCTGTTCTCAAGATTACAGCTAGATCTAGCAAGAAATTTTAACGTTCTTCTGGCCAGTGATCTGTGAAGTACATAATCCAAAGTATTGTGTGTGCCTAATAAAATCTTTAAATGCCCATTTGAGAGGGTATTATGCTGATATCTTAACTGAGATCCTTTGTGGGCAAAACAAGTGTTCCTCATTTTTTAACTGTGAATAACATCTTGCATCTGAAAATTAGAAAATAAGAGGTTTCAGGTTCTCTCTGCTAAATCCGGTTTAGCTACTAAGAAGTGCCAAATCATAGAACTGACTCTGTGCTCTGGGTGGTGTGGCTTTCTCTGCCCTTCAGAGATTCCAGGTCAGGGTTCCAGGTTGGCTTCCTAAGTAGAAATCCATTTGTCAAAACCAGACACCCTCAGTTAGTGAATGTTTAGGGCATGGGTTTCTGCCCATGCATAGGAAAGGTCTTCCCAAGTGGGGCAGGGCTCCACAAAGAGGAGGATGGCCTTGGAGGCTGGCTGACATCCTGCTTTATACCTGAACATCTTGCAGGCAGAGCCAAAAGCCACAACCAGGAGAGTCTGTACCGAACTCTGGTCATCCAGGACTTTCCTTTGGCTGGACTGGAAGAGGGGAAAGGACATTGGGAGGCTGTTTCTCCTCTTTTCCTGCAGCAGGCAATGGCTTCACTGTTTACCAAGTACTGTTTGCCGTGAGCTGGCCTGAGAACTTCCCTGCTATGTAAAATATTCCACCTCATTTGGAAAATACTTTCTAAGTTCCAAACAACTGATTTAGAAATGAGTTTTTAACTTTTTTATAAAAATTGCCAGATAAATATATGAATCTATTTTAGTTGCAAGACATTCAAACAACACAATGTAACAAATGAATATTTGACTGAATTACTGAATTATATAGCTGTTCTGGATGTTTTCCCCTCAGACGCATAACCTGGGGAAAATACATGAATTGTGGCCAAACCTGCATTGCACCCGACTATATTCTCTGTGAAGCATCCCTCCAAAATCAAATTGTATGGAAGATTAAGGAAACAGTGAAGGTTTGTATTAAAAACATCTGATTCCACTGATTTTAATAAGATAAGGAGTCAAATTAACTATTCGCAGGCAGCATCCCCATTTGTTTCTCCCTTCAGGAAAATTTCAAAATCATATGTGACTCAGTGAACTTATTGACTAATATGAAAATGCTATGTGTACCATAGAATATATGCTGGGAGCAAGGTTGCATTGGTGTTAAATCTACTTAAACTGTCTAGTTGATTTGTTGATGATTAGTTGTGGCATATACTTTTTTTAAAAAAGTTAAATAATCGTGTGTCCGTGGTTTTGAGGGAATGTTGCCAACCCTTTAGGTATAATCAGAGAGACTCTTTGGCATATTGGCCATTGCTGCTGAAGGTTATCAGTTTTTGTGTATGTAGAGGGCCTAGGGTGGCCAGTAGTTTGGAGGAGTGACTTAATTAAATAACTACTTACAGTATACCCTTTATATAATTAACAATCTTTCAGCGTGTTTAAAGTAAATATTTGCAGTGAGGGAACCAAGGAAGACTGCATGTAGAGTCCTAAGCCAAGACTTGAAGAAATATAGGATTTAAGTTGGTAGAAAGGAATGGGGGCTGGGCACGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGGGGCCTAGGGGGGCAGATCACTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAA 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GGCCCGGCGAGAATTCGAGTGTGGCGCTGGTGGGCTGGCATTGCTGGGGGACCCGGGGCACCCTCCTCAGCAGCTGGCCCAGGTGCTAAGCCCCTCATTGCCCAGGGCTGGCGGCGCCGGCCAGCTGCTCCGAGTGTGGGGCCCATTGAGCCTGCGCCCACCCAGAACTCGCTCTGGCTTGTGAGCGCCACGCGCAGCCCCGGTTCCTGCCTGCGCCTCTCCCTCCACACCTTCCCACAAGCAGAAGGAGCCGGCTCCAGCCTTGGCCAGCCCAGAGAGGGGCTCCCACAGTGCAGCTGTGGGCTGAAGGGCTCCTCAAGCGTGGCGAGAGTGGGTGCCAAGGCCAAGGAGGTGCTGAGAGCGAGCAAGGGTTGCCCGCACGCTCTCACCTCTCACCCAGCCTATAAGAGTACTTCTGCTTTCAAAAAAGACATGTCTGTGGCATGAAAACATGCCACACATACACAAAAAGTGCCCTCCTGAACTAGAGGGCAGATCCTCACACTGACTTAACATGCTGGCATTTAAGAATATCAAGAACTGAATAAAGAAAATGATCTGCCCAACTGCGGGTAGTTCATCTGTCTGAGTCAGAGGTTCTTATGCCTTCCTGGGGAGGAAGTTATGATGCCGCGAAGAAATTGGCACTGCTGAGTTCTACATGCAGTTGCTACAGGGAGGAGTCTTCATTTAGCTTTAAGCGAAATACAGCTTAAAAATATCTTACCTGTATTCTGTACATCAACTTGTGATGGATTGAGGCCAGTTCTGGTTCTTGGAATGATATTTTTCTCTTTGTTAGAGCCATTTTGTTCTAATAGCTGTGATGATCCAATCAAGAAAGATGAAATGGAAGACAGTGAGATGTCAAGGATTGAATAGGACGTAGAACCAGAAGATAGAGGTTGAAGGTACCGCTTTGCCCCTGACCAGGGGTAAATTCTTCAATAACTGACTCTGTCCGGATAAGGAGGATAATAATGCTCTACCAGCTTCAGTTACCGTGTTAGGGGATCAATAATATATGCTATGTAGATTAAGCCATAGAAAAGTTAAAGCTTGAAACATTTGTTGGGCAGCTGAACCATGAAGTGAATGAAATTAATTCGCCTTCAAGTGGAAACATGAGATCCACAAGCCAGCTTTTACTTCACACTTCCACCTTGGAGTCTTGAATACCTCTCTGTCTTCCTTGCTTGCCATCTGTTCTCTTACTTTTGATGCTGTTATTGTCCAAGATGTTCTCTCTTAGAATAGCTGGTAATGATAGCACAATGCATAGATGGGCTCAGTCCACAGAAGCTACGTGAATTCTCCCAGTAACAGATGAGGAAATTGAGGCTCAGAGATGTTCAGTAGCTTGCCTAAGGTTGCATAAGCTAGTGAGTGGCAGAGCCCAGATTCAAACCAGATACACTTCAAAAGCAAGCGCTCTCAGCTACTGTGCCGGATATACCATTCATTCAGAATAGCGTGGGCTAAGCCCACTCTGTGTTGTGAGACAGAGAACATTCAGACTAAGACATGCATGACCTGTCCTGTGGGAGCCACTCTTCACCAGAGGCACTTCTGCACACACCCGCGTCTCATGCATTTTCCCTGGTCAAATTCAACCATTTGTTCTCCTTAGTGTCTTTGTTGCTGAGCTCATGTAAAAAAACACTGGAGTCTCCAGATTAGTTCTATGTGGGTTCATGCTTCCCAGATGCCATCGGACTGTGTGTTCTCCTCTTGTCCTTGGTCAGTTCCCTCTCCCATCCCTCACAGGGACTGGTCTTGACACTCTCTGGGTTTTACTGAATGTTACATGTTTATGTTGAAGAGATTGCTGATGTTAGACGTTAGGATTTATTTGGCAGTGCAAGAGTTTGTGTTTCTCTTTCTTTGAGGATCTCTATATTGTTATTAATGGTGGTGTTGAGGAAACCACGGAGCTCCTGAAGCAGCGATTTGACCACATTTTCTATACGGGAAACACTGCGGTTGGCAAAATTGTCATGGAAGCTGCTGCCAAGCATCTGACCCCTGTGACTCTTGAACTGGGAGGGGAAAGTCCATGTTATATTGATAAAGATTGTGACCTGGACATTGTTTGCAGGTGAGTCTGGCTCTCTGATTTTCTGAGGTTTTCCCAGCACAATGGAGACTTTTCCTGACAATGTTACTCTTTGTACTTGAACCCCATACCTTATGGCTCCAAGATACATTATTAAGCTTTGGTGGTTGATGTCCTCAAGAGTAACAGGAGTCTTTCACTGTCTCTTGGCGCCACTGTCAAAAATGGTGAGCTGTAAGTCCTGACATCATGTGGTTGTCCTTAGGAATTTTAAAAAAGTTATATCTGTTCTCAAGATTACAGCTAGATCTAGCAAGAAATTTTAACGTTCTTCTGGCCAGTGATCTGTGAAGTACATAATCCAAAGTATTGTGTGTGCCTAATAAAATCTTTAAATGCCCATTTGAGAGGGTATTATGCTGATATCTTAACTGAGATCCTTTGTGGGCAAAACAAGTGTTCCTCATTTTTTAACTGTGAATAACATCTTGCATCTGAAAATTAGAAAATAAGAGGTTTCAGGTTCTCTCTGCTAAATCCGGTTTAGCTACTAAGAAGTGCCAAATCATAGAACTGACTCTGTGCTCTGGGTGGTGTGGCTTTCTCTGCCCTTCAGAGATTCCAGGTCAGGGTTCCAGGTTGGCTTCCTAAGTAGAAATCCATTTGTCAAAACCAGACACCCTCAGTTAGTGAATGTTTAGGGCATGGGTTTCTGCCCATGCATAGGAAAGGTCTTCCCAAGTGGGGCAGGGCTCCACAAAGAGGAGGATGGCCTTGGAGGCTGGCTGACATCCTGCTTTATACCTGAACATCTTGCAGGCAGAGCCAAAAGCCACAACCAGGAGAGTCTGTACCGAACTCTGGTCATCCAGGACTTTCCTTTGGCTGGACTGGAAGAGGGGAAAGGACATTGGGAGGCTGTTTCTCCTCTTTTCCTGCAGCAGGCAATGGCTTCACTGTTTACCAAGTACTGTTTGCCGTGAGCTGGCCTGAGAACTTCCCTGCTATGTAAAATATTCCACCTCATTTGGAAAATACTTTCTAAGTTCCAAACAACTGATTTAGAAATGAGTTTTTAACTTTTTTATAAAAATTGCCAGATAAATATATGAATCTATTTTAGTTGCAAGACATTCAAACAACACAATGTAACAAATGAATATTTGACTGAATTACTGAATTATATAGCTGTTCTGGATGTTTTCCCCTCAGACGCATAACCTGGGGAAAATACATGAATTGTGGCCAAACCTGCATTGCACCCGACTATATTCTCTGTGAAGCATCCCTCCAAAATCAAATTGTATGGAAGATTAAGGAAACAGTGAAGGTTTGTATTAAAAACATCTGATTCCACTGATTTTAATAAGATAAGGAGTCAAATTAACTATTCGCAGGCAGCATCCCCATTTGTTTCTCCCTTCAGGAAAATTTCAAAATCATATGTGACTCAGTGAACTTATTGACTAATATGAAAATGCTATGTGTACCATAGAATATATGCTGGGAGCAAGGTTGCATTGGTGTTAAATCTACTTAAACTGTCTAGTTGATTTGTTGATGATTAGTTGTGGCATATACTTTTTTTAAAAAAGTTAAATAATCGTGTGTCCGTGGTTTTGAGGGAATGTTGCCAACCCTTTAGGTATAATCAGAGAGACTCTTTGGCATATTGGCCATTGCTGCTGAAGGTTATCAGTTTTTGTGTATGTAGAGGGCCTAGGGTGGCCAGTAGTTTGGAGGAGTGACTTAATTAAATAACTACTTACAGTATACCCTTTATATAATTAACAATCTTTCAGCGTGTTTAAAGTAAATATTTGCAGTGAGGGAACCAAGGAAGACTGCATGTAGAGTCCTAAGCCAAGACTTGAAGAAATATAGGATTTAAGTTGGTAGAAAGGAATGGGGGCTGGGCACGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGGGGCCTAGGGGGGCAGATCACTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAA 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Task1_train_23876 | The gene ALDH3A2 (aldehyde dehydrogenase 3 family member A2), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Sjögren-Larsson syndrome | GAATTCGAGTGTGGCGCTGGTGGGCTGGCATTGCTGGGGGACCCGGGGCACCCTCCTCAGCAGCTGGCCCAGGTGCTAAGCCCCTCATTGCCCAGGGCTGGCGGCGCCGGCCAGCTGCTCCGAGTGTGGGGCCCATTGAGCCTGCGCCCACCCAGAACTCGCTCTGGCTTGTGAGCGCCACGCGCAGCCCCGGTTCCTGCCTGCGCCTCTCCCTCCACACCTTCCCACAAGCAGAAGGAGCCGGCTCCAGCCTTGGCCAGCCCAGAGAGGGGCTCCCACAGTGCAGCTGTGGGCTGAAGGGCTCCTCAAGCGTGGCGAGAGTGGGTGCCAAGGCCAAGGAGGTGCTGAGAGCGAGCAAGGGTTGCCCGCACGCTCTCACCTCTCACCCAGCCTATAAGAGTACTTCTGCTTTCAAAAAAGACATGTCTGTGGCATGAAAACATGCCACACATACACAAAAAGTGCCCTCCTGAACTAGAGGGCAGATCCTCACACTGACTTAACATGCTGGCATTTAAGAATATCAAGAACTGAATAAAGAAAATGATCTGCCCAACTGCGGGTAGTTCATCTGTCTGAGTCAGAGGTTCTTATGCCTTCCTGGGGAGGAAGTTATGATGCCGCGAAGAAATTGGCACTGCTGAGTTCTACATGCAGTTGCTACAGGGAGGAGTCTTCATTTAGCTTTAAGCGAAATACAGCTTAAAAATATCTTACCTGTATTCTGTACATCAACTTGTGATGGATTGAGGCCAGTTCTGGTTCTTGGAATGATATTTTTCTCTTTGTTAGAGCCATTTTGTTCTAATAGCTGTGATGATCCAATCAAGAAAGATGAAATGGAAGACAGTGAGATGTCAAGGATTGAATAGGACGTAGAACCAGAAGATAGAGGTTGAAGGTACCGCTTTGCCCCTGACCAGGGGTAAATTCTTCAATAACTGACTCTGTCCGGATAAGGAGGATAATAATGCTCTACCAGCTTCAGTTACCGTGTTAGGGGATCAATAATATATGCTATGTAGATTAAGCCATAGAAAAGTTAAAGCTTGAAACATTTGTTGGGCAGCTGAACCATGAAGTGAATGAAATTAATTCGCCTTCAAGTGGAAACATGAGATCCACAAGCCAGCTTTTACTTCACACTTCCACCTTGGAGTCTTGAATACCTCTCTGTCTTCCTTGCTTGCCATCTGTTCTCTTACTTTTGATGCTGTTATTGTCCAAGATGTTCTCTCTTAGAATAGCTGGTAATGATAGCACAATGCATAGATGGGCTCAGTCCACAGAAGCTACGTGAATTCTCCCAGTAACAGATGAGGAAATTGAGGCTCAGAGATGTTCAGTAGCTTGCCTAAGGTTGCATAAGCTAGTGAGTGGCAGAGCCCAGATTCAAACCAGATACACTTCAAAAGCAAGCGCTCTCAGCTACTGTGCCGGATATACCATTCATTCAGAATAGCGTGGGCTAAGCCCACTCTGTGTTGTGAGACAGAGAACATTCAGACTAAGACATGCATGACCTGTCCTGTGGGAGCCACTCTTCACCAGAGGCACTTCTGCACACACCCGCGTCTCATGCATTTTCCCTGGTCAAATTCAACCATTTGTTCTCCTTAGTGTCTTTGTTGCTGAGCTCATGTAAAAAAACACTGGAGTCTCCAGATTAGTTCTATGTGGGTTCATGCTTCCCAGATGCCATCGGACTGTGTGTTCTCCTCTTGTCCTTGGTCAGTTCCCTCTCCCATCCCTCACAGGGACTGGTCTTGACACTCTCTGGGTTTTACTGAATGTTACATGTTTATGTTGAAGAGATTGCTGATGTTAGACGTTAGGATTTATTTGGCAGTGCAAGAGTTTGTGTTTCTCTTTCTTTGAGGATCTCTATATTGTTATTAATGGTGGTGTTGAGGAAACCACGGAGCTCCTGAAGCAGCGATTTGACCACATTTTCTATACGGGAAACACTGCGGTTGGCAAAATTGTCATGGAAGCTGCTGCCAAGCATCTGACCCCTGTGACTCTTGAACTGGGAGGGAAAAGTCCATGTTATATTGATAAAGATTGTGACCTGGACATTGTTTGCAGGTGAGTCTGGCTCTCTGATTTTCTGAGGTTTTCCCAGCACAATGGAGACTTTTCCTGACAATGTTACTCTTTGTACTTGAACCCCATACCTTATGGCTCCAAGATACATTATTAAGCTTTGGTGGTTGATGTCCTCAAGAGTAACAGGAGTCTTTCACTGTCTCTTGGCGCCACTGTCAAAAATGGTGAGCTGTAAGTCCTGACATCATGTGGTTGTCCTTAGGAATTTTAAAAAAGTTATATCTGTTCTCAAGATTACAGCTAGATCTAGCAAGAAATTTTAACGTTCTTCTGGCCAGTGATCTGTGAAGTACATAATCCAAAGTATTGTGTGTGCCTAATAAAATCTTTAAATGCCCATTTGAGAGGGTATTATGCTGATATCTTAACTGAGATCCTTTGTGGGCAAAACAAGTGTTCCTCATTTTTTAACTGTGAATAACATCTTGCATCTGAAAATTAGAAAATAAGAGGTTTCAGGTTCTCTCTGCTAAATCCGGTTTAGCTACTAAGAAGTGCCAAATCATAGAACTGACTCTGTGCTCTGGGTGGTGTGGCTTTCTCTGCCCTTCAGAGATTCCAGGTCAGGGTTCCAGGTTGGCTTCCTAAGTAGAAATCCATTTGTCAAAACCAGACACCCTCAGTTAGTGAATGTTTAGGGCATGGGTTTCTGCCCATGCATAGGAAAGGTCTTCCCAAGTGGGGCAGGGCTCCACAAAGAGGAGGATGGCCTTGGAGGCTGGCTGACATCCTGCTTTATACCTGAACATCTTGCAGGCAGAGCCAAAAGCCACAACCAGGAGAGTCTGTACCGAACTCTGGTCATCCAGGACTTTCCTTTGGCTGGACTGGAAGAGGGGAAAGGACATTGGGAGGCTGTTTCTCCTCTTTTCCTGCAGCAGGCAATGGCTTCACTGTTTACCAAGTACTGTTTGCCGTGAGCTGGCCTGAGAACTTCCCTGCTATGTAAAATATTCCACCTCATTTGGAAAATACTTTCTAAGTTCCAAACAACTGATTTAGAAATGAGTTTTTAACTTTTTTATAAAAATTGCCAGATAAATATATGAATCTATTTTAGTTGCAAGACATTCAAACAACACAATGTAACAAATGAATATTTGACTGAATTACTGAATTATATAGCTGTTCTGGATGTTTTCCCCTCAGACGCATAACCTGGGGAAAATACATGAATTGTGGCCAAACCTGCATTGCACCCGACTATATTCTCTGTGAAGCATCCCTCCAAAATCAAATTGTATGGAAGATTAAGGAAACAGTGAAGGTTTGTATTAAAAACATCTGATTCCACTGATTTTAATAAGATAAGGAGTCAAATTAACTATTCGCAGGCAGCATCCCCATTTGTTTCTCCCTTCAGGAAAATTTCAAAATCATATGTGACTCAGTGAACTTATTGACTAATATGAAAATGCTATGTGTACCATAGAATATATGCTGGGAGCAAGGTTGCATTGGTGTTAAATCTACTTAAACTGTCTAGTTGATTTGTTGATGATTAGTTGTGGCATATACTTTTTTTAAAAAAGTTAAATAATCGTGTGTCCGTGGTTTTGAGGGAATGTTGCCAACCCTTTAGGTATAATCAGAGAGACTCTTTGGCATATTGGCCATTGCTGCTGAAGGTTATCAGTTTTTGTGTATGTAGAGGGCCTAGGGTGGCCAGTAGTTTGGAGGAGTGACTTAATTAAATAACTACTTACAGTATACCCTTTATATAATTAACAATCTTTCAGCGTGTTTAAAGTAAATATTTGCAGTGAGGGAACCAAGGAAGACTGCATGTAGAGTCCTAAGCCAAGACTTGAAGAAATATAGGATTTAAGTTGGTAGAAAGGAATGGGGGCTGGGCACGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGGGGCCTAGGGGGGCAGATCACTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATCAGC 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GAATTCGAGTGTGGCGCTGGTGGGCTGGCATTGCTGGGGGACCCGGGGCACCCTCCTCAGCAGCTGGCCCAGGTGCTAAGCCCCTCATTGCCCAGGGCTGGCGGCGCCGGCCAGCTGCTCCGAGTGTGGGGCCCATTGAGCCTGCGCCCACCCAGAACTCGCTCTGGCTTGTGAGCGCCACGCGCAGCCCCGGTTCCTGCCTGCGCCTCTCCCTCCACACCTTCCCACAAGCAGAAGGAGCCGGCTCCAGCCTTGGCCAGCCCAGAGAGGGGCTCCCACAGTGCAGCTGTGGGCTGAAGGGCTCCTCAAGCGTGGCGAGAGTGGGTGCCAAGGCCAAGGAGGTGCTGAGAGCGAGCAAGGGTTGCCCGCACGCTCTCACCTCTCACCCAGCCTATAAGAGTACTTCTGCTTTCAAAAAAGACATGTCTGTGGCATGAAAACATGCCACACATACACAAAAAGTGCCCTCCTGAACTAGAGGGCAGATCCTCACACTGACTTAACATGCTGGCATTTAAGAATATCAAGAACTGAATAAAGAAAATGATCTGCCCAACTGCGGGTAGTTCATCTGTCTGAGTCAGAGGTTCTTATGCCTTCCTGGGGAGGAAGTTATGATGCCGCGAAGAAATTGGCACTGCTGAGTTCTACATGCAGTTGCTACAGGGAGGAGTCTTCATTTAGCTTTAAGCGAAATACAGCTTAAAAATATCTTACCTGTATTCTGTACATCAACTTGTGATGGATTGAGGCCAGTTCTGGTTCTTGGAATGATATTTTTCTCTTTGTTAGAGCCATTTTGTTCTAATAGCTGTGATGATCCAATCAAGAAAGATGAAATGGAAGACAGTGAGATGTCAAGGATTGAATAGGACGTAGAACCAGAAGATAGAGGTTGAAGGTACCGCTTTGCCCCTGACCAGGGGTAAATTCTTCAATAACTGACTCTGTCCGGATAAGGAGGATAATAATGCTCTACCAGCTTCAGTTACCGTGTTAGGGGATCAATAATATATGCTATGTAGATTAAGCCATAGAAAAGTTAAAGCTTGAAACATTTGTTGGGCAGCTGAACCATGAAGTGAATGAAATTAATTCGCCTTCAAGTGGAAACATGAGATCCACAAGCCAGCTTTTACTTCACACTTCCACCTTGGAGTCTTGAATACCTCTCTGTCTTCCTTGCTTGCCATCTGTTCTCTTACTTTTGATGCTGTTATTGTCCAAGATGTTCTCTCTTAGAATAGCTGGTAATGATAGCACAATGCATAGATGGGCTCAGTCCACAGAAGCTACGTGAATTCTCCCAGTAACAGATGAGGAAATTGAGGCTCAGAGATGTTCAGTAGCTTGCCTAAGGTTGCATAAGCTAGTGAGTGGCAGAGCCCAGATTCAAACCAGATACACTTCAAAAGCAAGCGCTCTCAGCTACTGTGCCGGATATACCATTCATTCAGAATAGCGTGGGCTAAGCCCACTCTGTGTTGTGAGACAGAGAACATTCAGACTAAGACATGCATGACCTGTCCTGTGGGAGCCACTCTTCACCAGAGGCACTTCTGCACACACCCGCGTCTCATGCATTTTCCCTGGTCAAATTCAACCATTTGTTCTCCTTAGTGTCTTTGTTGCTGAGCTCATGTAAAAAAACACTGGAGTCTCCAGATTAGTTCTATGTGGGTTCATGCTTCCCAGATGCCATCGGACTGTGTGTTCTCCTCTTGTCCTTGGTCAGTTCCCTCTCCCATCCCTCACAGGGACTGGTCTTGACACTCTCTGGGTTTTACTGAATGTTACATGTTTATGTTGAAGAGATTGCTGATGTTAGACGTTAGGATTTATTTGGCAGTGCAAGAGTTTGTGTTTCTCTTTCTTTGAGGATCTCTATATTGTTATTAATGGTGGTGTTGAGGAAACCACGGAGCTCCTGAAGCAGCGATTTGACCACATTTTCTATACGGGAAACACTGCGGTTGGCAAAATTGTCATGGAAGCTGCTGCCAAGCATCTGACCCCTGTGACTCTTGAACTGGGAGGGAAAAGTCCATATTATATTGATAAAGATTGTGACCTGGACATTGTTTGCAGGTGAGTCTGGCTCTCTGATTTTCTGAGGTTTTCCCAGCACAATGGAGACTTTTCCTGACAATGTTACTCTTTGTACTTGAACCCCATACCTTATGGCTCCAAGATACATTATTAAGCTTTGGTGGTTGATGTCCTCAAGAGTAACAGGAGTCTTTCACTGTCTCTTGGCGCCACTGTCAAAAATGGTGAGCTGTAAGTCCTGACATCATGTGGTTGTCCTTAGGAATTTTAAAAAAGTTATATCTGTTCTCAAGATTACAGCTAGATCTAGCAAGAAATTTTAACGTTCTTCTGGCCAGTGATCTGTGAAGTACATAATCCAAAGTATTGTGTGTGCCTAATAAAATCTTTAAATGCCCATTTGAGAGGGTATTATGCTGATATCTTAACTGAGATCCTTTGTGGGCAAAACAAGTGTTCCTCATTTTTTAACTGTGAATAACATCTTGCATCTGAAAATTAGAAAATAAGAGGTTTCAGGTTCTCTCTGCTAAATCCGGTTTAGCTACTAAGAAGTGCCAAATCATAGAACTGACTCTGTGCTCTGGGTGGTGTGGCTTTCTCTGCCCTTCAGAGATTCCAGGTCAGGGTTCCAGGTTGGCTTCCTAAGTAGAAATCCATTTGTCAAAACCAGACACCCTCAGTTAGTGAATGTTTAGGGCATGGGTTTCTGCCCATGCATAGGAAAGGTCTTCCCAAGTGGGGCAGGGCTCCACAAAGAGGAGGATGGCCTTGGAGGCTGGCTGACATCCTGCTTTATACCTGAACATCTTGCAGGCAGAGCCAAAAGCCACAACCAGGAGAGTCTGTACCGAACTCTGGTCATCCAGGACTTTCCTTTGGCTGGACTGGAAGAGGGGAAAGGACATTGGGAGGCTGTTTCTCCTCTTTTCCTGCAGCAGGCAATGGCTTCACTGTTTACCAAGTACTGTTTGCCGTGAGCTGGCCTGAGAACTTCCCTGCTATGTAAAATATTCCACCTCATTTGGAAAATACTTTCTAAGTTCCAAACAACTGATTTAGAAATGAGTTTTTAACTTTTTTATAAAAATTGCCAGATAAATATATGAATCTATTTTAGTTGCAAGACATTCAAACAACACAATGTAACAAATGAATATTTGACTGAATTACTGAATTATATAGCTGTTCTGGATGTTTTCCCCTCAGACGCATAACCTGGGGAAAATACATGAATTGTGGCCAAACCTGCATTGCACCCGACTATATTCTCTGTGAAGCATCCCTCCAAAATCAAATTGTATGGAAGATTAAGGAAACAGTGAAGGTTTGTATTAAAAACATCTGATTCCACTGATTTTAATAAGATAAGGAGTCAAATTAACTATTCGCAGGCAGCATCCCCATTTGTTTCTCCCTTCAGGAAAATTTCAAAATCATATGTGACTCAGTGAACTTATTGACTAATATGAAAATGCTATGTGTACCATAGAATATATGCTGGGAGCAAGGTTGCATTGGTGTTAAATCTACTTAAACTGTCTAGTTGATTTGTTGATGATTAGTTGTGGCATATACTTTTTTTAAAAAAGTTAAATAATCGTGTGTCCGTGGTTTTGAGGGAATGTTGCCAACCCTTTAGGTATAATCAGAGAGACTCTTTGGCATATTGGCCATTGCTGCTGAAGGTTATCAGTTTTTGTGTATGTAGAGGGCCTAGGGTGGCCAGTAGTTTGGAGGAGTGACTTAATTAAATAACTACTTACAGTATACCCTTTATATAATTAACAATCTTTCAGCGTGTTTAAAGTAAATATTTGCAGTGAGGGAACCAAGGAAGACTGCATGTAGAGTCCTAAGCCAAGACTTGAAGAAATATAGGATTTAAGTTGGTAGAAAGGAATGGGGGCTGGGCACGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGGGGCCTAGGGGGGCAGATCACTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATCAGC 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Task1_train_23877 | Here is a genetic alteration in ALDH3A2 (aldehyde dehydrogenase 3 family member A2) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Sjögren-Larsson syndrome | GCTGTTATTGTCCAAGATGTTCTCTCTTAGAATAGCTGGTAATGATAGCACAATGCATAGATGGGCTCAGTCCACAGAAGCTACGTGAATTCTCCCAGTAACAGATGAGGAAATTGAGGCTCAGAGATGTTCAGTAGCTTGCCTAAGGTTGCATAAGCTAGTGAGTGGCAGAGCCCAGATTCAAACCAGATACACTTCAAAAGCAAGCGCTCTCAGCTACTGTGCCGGATATACCATTCATTCAGAATAGCGTGGGCTAAGCCCACTCTGTGTTGTGAGACAGAGAACATTCAGACTAAGACATGCATGACCTGTCCTGTGGGAGCCACTCTTCACCAGAGGCACTTCTGCACACACCCGCGTCTCATGCATTTTCCCTGGTCAAATTCAACCATTTGTTCTCCTTAGTGTCTTTGTTGCTGAGCTCATGTAAAAAAACACTGGAGTCTCCAGATTAGTTCTATGTGGGTTCATGCTTCCCAGATGCCATCGGACTGTGTGTTCTCCTCTTGTCCTTGGTCAGTTCCCTCTCCCATCCCTCACAGGGACTGGTCTTGACACTCTCTGGGTTTTACTGAATGTTACATGTTTATGTTGAAGAGATTGCTGATGTTAGACGTTAGGATTTATTTGGCAGTGCAAGAGTTTGTGTTTCTCTTTCTTTGAGGATCTCTATATTGTTATTAATGGTGGTGTTGAGGAAACCACGGAGCTCCTGAAGCAGCGATTTGACCACATTTTCTATACGGGAAACACTGCGGTTGGCAAAATTGTCATGGAAGCTGCTGCCAAGCATCTGACCCCTGTGACTCTTGAACTGGGAGGGAAAAGTCCATGTTATATTGATAAAGATTGTGACCTGGACATTGTTTGCAGGTGAGTCTGGCTCTCTGATTTTCTGAGGTTTTCCCAGCACAATGGAGACTTTTCCTGACAATGTTACTCTTTGTACTTGAACCCCATACCTTATGGCTCCAAGATACATTATTAAGCTTTGGTGGTTGATGTCCTCAAGAGTAACAGGAGTCTTTCACTGTCTCTTGGCGCCACTGTCAAAAATGGTGAGCTGTAAGTCCTGACATCATGTGGTTGTCCTTAGGAATTTTAAAAAAGTTATATCTGTTCTCAAGATTACAGCTAGATCTAGCAAGAAATTTTAACGTTCTTCTGGCCAGTGATCTGTGAAGTACATAATCCAAAGTATTGTGTGTGCCTAATAAAATCTTTAAATGCCCATTTGAGAGGGTATTATGCTGATATCTTAACTGAGATCCTTTGTGGGCAAAACAAGTGTTCCTCATTTTTTAACTGTGAATAACATCTTGCATCTGAAAATTAGAAAATAAGAGGTTTCAGGTTCTCTCTGCTAAATCCGGTTTAGCTACTAAGAAGTGCCAAATCATAGAACTGACTCTGTGCTCTGGGTGGTGTGGCTTTCTCTGCCCTTCAGAGATTCCAGGTCAGGGTTCCAGGTTGGCTTCCTAAGTAGAAATCCATTTGTCAAAACCAGACACCCTCAGTTAGTGAATGTTTAGGGCATGGGTTTCTGCCCATGCATAGGAAAGGTCTTCCCAAGTGGGGCAGGGCTCCACAAAGAGGAGGATGGCCTTGGAGGCTGGCTGACATCCTGCTTTATACCTGAACATCTTGCAGGCAGAGCCAAAAGCCACAACCAGGAGAGTCTGTACCGAACTCTGGTCATCCAGGACTTTCCTTTGGCTGGACTGGAAGAGGGGAAAGGACATTGGGAGGCTGTTTCTCCTCTTTTCCTGCAGCAGGCAATGGCTTCACTGTTTACCAAGTACTGTTTGCCGTGAGCTGGCCTGAGAACTTCCCTGCTATGTAAAATATTCCACCTCATTTGGAAAATACTTTCTAAGTTCCAAACAACTGATTTAGAAATGAGTTTTTAACTTTTTTATAAAAATTGCCAGATAAATATATGAATCTATTTTAGTTGCAAGACATTCAAACAACACAATGTAACAAATGAATATTTGACTGAATTACTGAATTATATAGCTGTTCTGGATGTTTTCCCCTCAGACGCATAACCTGGGGAAAATACATGAATTGTGGCCAAACCTGCATTGCACCCGACTATATTCTCTGTGAAGCATCCCTCCAAAATCAAATTGTATGGAAGATTAAGGAAACAGTGAAGGTTTGTATTAAAAACATCTGATTCCACTGATTTTAATAAGATAAGGAGTCAAATTAACTATTCGCAGGCAGCATCCCCATTTGTTTCTCCCTTCAGGAAAATTTCAAAATCATATGTGACTCAGTGAACTTATTGACTAATATGAAAATGCTATGTGTACCATAGAATATATGCTGGGAGCAAGGTTGCATTGGTGTTAAATCTACTTAAACTGTCTAGTTGATTTGTTGATGATTAGTTGTGGCATATACTTTTTTTAAAAAAGTTAAATAATCGTGTGTCCGTGGTTTTGAGGGAATGTTGCCAACCCTTTAGGTATAATCAGAGAGACTCTTTGGCATATTGGCCATTGCTGCTGAAGGTTATCAGTTTTTGTGTATGTAGAGGGCCTAGGGTGGCCAGTAGTTTGGAGGAGTGACTTAATTAAATAACTACTTACAGTATACCCTTTATATAATTAACAATCTTTCAGCGTGTTTAAAGTAAATATTTGCAGTGAGGGAACCAAGGAAGACTGCATGTAGAGTCCTAAGCCAAGACTTGAAGAAATATAGGATTTAAGTTGGTAGAAAGGAATGGGGGCTGGGCACGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGGGGCCTAGGGGGGCAGATCACTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATCAGCCGGGGATGGTGGTGCATGTCTGTAATTCCAGCTACTCAGGAGGCTAAGGCACGAGATTTGCTTGAACCCTGGCAAGAATCGCTTGAACCCGGGAGGCAAAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTTTAAAAAAAAAAAAAAAAAGAAGAATGGGATGACCAAATGACCAGTGTGACTGAGTTCAGCAGTGGGTGAGGATCATTAACCCCTCAGATGAAAGAAATTATTGGAGCAGTCACTGTTTACTCGACAGATGTTAATTGAGCACTAAAAGGAAGGATCAAAAACACCAAAGAGTAATGCATGTGATCTGAAAATGAAAATTGTTGGCCAGACATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGTTGATCACTTGAGGTGAGGAGTTAGAGACCAGTTTGGCCAACATGGCAAAACCCATCTCTACTAAAATTACAAAAATTAGCCGGGCATGGTGGCACGCACCTATAATTCTAGCTACTTGGGAGGCTGAGGCACAAGAATTGCTTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCAAGATCATGCTACTGCACTCCAGCCTGGGTAACGGAATGAGATTTTATCTCAAAAGAAAAAAAGATATGAAAATTGTCGCCGTTGTGGTGGTTCACTCCTGTAATCCGAGCACTTTGGGAGGCTAAGGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAAACCAGCCTGGTCAACATAATGAGACCCTGTGTCTACAAAAGAAAAAAAGGTTAGCTGGGTATGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGCCAGAAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAATGAGCCATTATTGCATCACTGTGCTCCAGCCTGAGTGACAGCATAAGACTCTGTCTCAAAAAAACAAAAAAAGAGAAAATTGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGACAGATCACTTGAGGCCAGGAATTCAAGACCAGCTGGGCAACGTAGCAAAATCTTGTCGCTACAAGAAATACAAAAATTCAGGTGTACCGGCGTGTACGTGTGGTCCCAGCTACTTGGCAGGCTGAGGTAGGAGGATCGCTTGATCCTCCTGGGAGGCGGAGGCTGCAGTGAGCCAA 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GCTGTTATTGTCCAAGATGTTCTCTCTTAGAATAGCTGGTAATGATAGCACAATGCATAGATGGGCTCAGTCCACAGAAGCTACGTGAATTCTCCCAGTAACAGATGAGGAAATTGAGGCTCAGAGATGTTCAGTAGCTTGCCTAAGGTTGCATAAGCTAGTGAGTGGCAGAGCCCAGATTCAAACCAGATACACTTCAAAAGCAAGCGCTCTCAGCTACTGTGCCGGATATACCATTCATTCAGAATAGCGTGGGCTAAGCCCACTCTGTGTTGTGAGACAGAGAACATTCAGACTAAGACATGCATGACCTGTCCTGTGGGAGCCACTCTTCACCAGAGGCACTTCTGCACACACCCGCGTCTCATGCATTTTCCCTGGTCAAATTCAACCATTTGTTCTCCTTAGTGTCTTTGTTGCTGAGCTCATGTAAAAAAACACTGGAGTCTCCAGATTAGTTCTATGTGGGTTCATGCTTCCCAGATGCCATCGGACTGTGTGTTCTCCTCTTGTCCTTGGTCAGTTCCCTCTCCCATCCCTCACAGGGACTGGTCTTGACACTCTCTGGGTTTTACTGAATGTTACATGTTTATGTTGAAGAGATTGCTGATGTTAGACGTTAGGATTTATTTGGCAGTGCAAGAGTTTGTGTTTCTCTTTCTTTGAGGATCTCTATATTGTTATTAATGGTGGTGTTGAGGAAACCACGGAGCTCCTGAAGCAGCGATTTGACCACATTTTCTATACGGGAAACACTGCGGTTGGCAAAATTGTCATGGAAGCTGCTGCCAAGCATCTGACCCCTGTGACTCTTGAACTGGGAGGGAAAAGTCCATGTTATATTGATAAAGATTGTGACCTGGACATTGTTTGCAGGTGAGTCTGGCTCTCTGATTTTCTGAGGTTTTCCCAGCACAATGGAGACTTTTCCTGACAATGTTACTCTTTGTACTTGAACCCCATACCTTATGGCTCCAAGATACATTATTAAGCTTTGGTGGTTGATGTCCTCAAGAGTAACAGGAGTCTTTCACTGTCTCTTGGCGCCACTGTCAAAAATGGTGAGCTGTAAGTCCTGACATCATGTGGTTGTCCTTAGGAATTTTAAAAAAGTTATATCTGTTCTCAAGATTACAGCTAGATCTAGCAAGAAATTTTAACGTTCTTCTGGCCAGTGATCTGTGAAGTACATAATCCAAAGTATTGTGTGTGCCTAATAAAATCTTTAAATGCCCATTTGAGAGGGTATTATGCTGATATCTTAACTGAGATCCTTTGTGGGCAAAACAAGTGTTCCTCATTTTTTAACTGTGAATAACATCTTGCATCTGAAAATTAGAAAATAAGAGGTTTCAGGTTCTCTCTGCTAAATCCGGTTTAGCTACTAAGAAGTGCCAAATCATAGAACTGACTCTGTGCTCTGGGTGGTGTGGCTTTCTCTGCCCTTCAGAGATTCCAGGTCAGGGTTCCAGGTTGGCTTCCTAAGTAGAAATCCATTTGTCAAAACCAGACACCCTCAGTTAGTGAATGTTTAGGGCATGGGTTTCTGCCCATGCATAGGAAAGGTCTTCCCAAGTGGGGCAGGGCTCCACAAAGAGGAGGATGGCCTTGGAGGCTGGCTGACATCCTGCTTTATACCTGAACATCTTGCAGGCAGAGCCAAAAGCCACAACCAGGAGAGTCTGTACCGAACTCTGGTCATCCAGGACTTTCCTTTGGCTGGACTGGAAGAGGGGAAAGGACATTGGGAGGCTGTTTCTCCTCTTTTCCTGCAGCAGGCAATGGCTTCACTGTTTACCAAGTACTGTTTGCCGTGAGCTGGCCTGAGAACTTCCCTGCTATGTAAAATATTCCACCTCATTTGGAAAATACTTTCTAAGTTCCAAACAACTGATTTAGAAATGAGTTTTTAACTTTTTTATAAAAATTGCCAGATAAATATATGAATCTATTTTAGTTGCAAGACATTCAAACAACACAATGTAACAAATGAATATTTGACTGAATTACTGAATTATATAGCTGTTCTGGATGTTTTCCCCTCAGACACATAACCTGGGGAAAATACATGAATTGTGGCCAAACCTGCATTGCACCCGACTATATTCTCTGTGAAGCATCCCTCCAAAATCAAATTGTATGGAAGATTAAGGAAACAGTGAAGGTTTGTATTAAAAACATCTGATTCCACTGATTTTAATAAGATAAGGAGTCAAATTAACTATTCGCAGGCAGCATCCCCATTTGTTTCTCCCTTCAGGAAAATTTCAAAATCATATGTGACTCAGTGAACTTATTGACTAATATGAAAATGCTATGTGTACCATAGAATATATGCTGGGAGCAAGGTTGCATTGGTGTTAAATCTACTTAAACTGTCTAGTTGATTTGTTGATGATTAGTTGTGGCATATACTTTTTTTAAAAAAGTTAAATAATCGTGTGTCCGTGGTTTTGAGGGAATGTTGCCAACCCTTTAGGTATAATCAGAGAGACTCTTTGGCATATTGGCCATTGCTGCTGAAGGTTATCAGTTTTTGTGTATGTAGAGGGCCTAGGGTGGCCAGTAGTTTGGAGGAGTGACTTAATTAAATAACTACTTACAGTATACCCTTTATATAATTAACAATCTTTCAGCGTGTTTAAAGTAAATATTTGCAGTGAGGGAACCAAGGAAGACTGCATGTAGAGTCCTAAGCCAAGACTTGAAGAAATATAGGATTTAAGTTGGTAGAAAGGAATGGGGGCTGGGCACGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGGGGCCTAGGGGGGCAGATCACTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATCAGCCGGGGATGGTGGTGCATGTCTGTAATTCCAGCTACTCAGGAGGCTAAGGCACGAGATTTGCTTGAACCCTGGCAAGAATCGCTTGAACCCGGGAGGCAAAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTTTAAAAAAAAAAAAAAAAAGAAGAATGGGATGACCAAATGACCAGTGTGACTGAGTTCAGCAGTGGGTGAGGATCATTAACCCCTCAGATGAAAGAAATTATTGGAGCAGTCACTGTTTACTCGACAGATGTTAATTGAGCACTAAAAGGAAGGATCAAAAACACCAAAGAGTAATGCATGTGATCTGAAAATGAAAATTGTTGGCCAGACATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGTTGATCACTTGAGGTGAGGAGTTAGAGACCAGTTTGGCCAACATGGCAAAACCCATCTCTACTAAAATTACAAAAATTAGCCGGGCATGGTGGCACGCACCTATAATTCTAGCTACTTGGGAGGCTGAGGCACAAGAATTGCTTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCAAGATCATGCTACTGCACTCCAGCCTGGGTAACGGAATGAGATTTTATCTCAAAAGAAAAAAAGATATGAAAATTGTCGCCGTTGTGGTGGTTCACTCCTGTAATCCGAGCACTTTGGGAGGCTAAGGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAAACCAGCCTGGTCAACATAATGAGACCCTGTGTCTACAAAAGAAAAAAAGGTTAGCTGGGTATGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGCCAGAAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAATGAGCCATTATTGCATCACTGTGCTCCAGCCTGAGTGACAGCATAAGACTCTGTCTCAAAAAAACAAAAAAAGAGAAAATTGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGACAGATCACTTGAGGCCAGGAATTCAAGACCAGCTGGGCAACGTAGCAAAATCTTGTCGCTACAAGAAATACAAAAATTCAGGTGTACCGGCGTGTACGTGTGGTCCCAGCTACTTGGCAGGCTGAGGTAGGAGGATCGCTTGATCCTCCTGGGAGGCGGAGGCTGCAGTGAGCCAA 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Task1_train_23878 | A mutation in ALDH3A2 (aldehyde dehydrogenase 3 family member A2), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | TAGCTACTTGGGAGGCTGAGGCACAAGAATTGCTTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCAAGATCATGCTACTGCACTCCAGCCTGGGTAACGGAATGAGATTTTATCTCAAAAGAAAAAAAGATATGAAAATTGTCGCCGTTGTGGTGGTTCACTCCTGTAATCCGAGCACTTTGGGAGGCTAAGGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAAACCAGCCTGGTCAACATAATGAGACCCTGTGTCTACAAAAGAAAAAAAGGTTAGCTGGGTATGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGCCAGAAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAATGAGCCATTATTGCATCACTGTGCTCCAGCCTGAGTGACAGCATAAGACTCTGTCTCAAAAAAACAAAAAAAGAGAAAATTGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGACAGATCACTTGAGGCCAGGAATTCAAGACCAGCTGGGCAACGTAGCAAAATCTTGTCGCTACAAGAAATACAAAAATTCAGGTGTACCGGCGTGTACGTGTGGTCCCAGCTACTTGGCAGGCTGAGGTAGGAGGATCGCTTGATCCTCCTGGGAGGCGGAGGCTGCAGTGAGCCAAGAATGTGCCACTGGACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAGAGAAAATTATGTACCAGGAAGTTCAGGACAATAGTTCACTATGTGTTCCAGGCAGAGTAACTTGGGGGATGAGGTGCTAGGGTCTTGACATGGAAATTGGACTATCATTTTTAGTCATAGGACTAAAAATGGATCCAGATGAGCACATGAAGGGAGAGTTGCCCAGATTCAGGGTATGTGGGAAGAGAGAGTGGTTAAAGATACTTGTGAGATTGAAAATATTTGGGAATTGGAGAATGCTTAGTTGAGTGTGGTGATGAATTCAATTTCAAAGGAATAAGGGCCTCTGCCTCCCTTTGAGGCATTTATACTCTTAACACAGTGGTTCTCAAGCTACATGTTACCCTAGTGAGCCATTTAAAAACAAGTTTGCAAGCCTTACCCTCCAAAGATTCAGCTCGTCTGAGGCCTCCAGGTGATTCTATGATGCATTCAGCATTGAAAACTACTGTTGGTGACTCTCGAGTCAGAGCCCAGGCACATGCATTTTAGCAAGCTGCACCAGTGATTCCGACCACCCAGACTTGAGAATTGCTCTTGGTAGAGGTTGGATGAACAATGTTCATTTTGATTTGGGATGAAATTGGGAACTCTCACAAGGCTTTGAAGTGATGCAGCAATTCAGTAATTTTGTTTGTTTTACTAAGTAAATATTGATTGTATGATTATTGACGTTCTTTTACCTTGGTAATTTACCAAAGCTGTATTTTGATCCTTCGGGTGGTTTCACCATCATGTGTAAGTGGTGGAAATACCAGTTCAAAGAAGACCAAAACAACAAAGTGGAGCAAAGATTGGCAAATGGTTTCTGTAAAGGGCTAGATGGTAAATATTTCAGGCTTTGCAGATGTTAGGGTCTCTGCTGTAACTACCGAACTTACTGTAGGGGGAAAGCAGGCACAGCCAATGTGCTAACAAATAGGCAACTCTGATGCAGAGCAAGACTTCTTTCCCCAGCCTGCTCCCACTGTCAGCCCCAGGAGGTGAAGGCCTGTGGGTGGACTCTAAGAGATCCATAAGAACCTTTGGAACTATGGACAATGACAGATCTCTGTGTGTGTGCATGCTTTATTTTCTGGTCCTCGACCTGCCAAAAAGCTGAAACTTGCTACTATCATACTACTGTTAAATTACTTGAGGGGTGGGGTGTTAGATTCTGTGAGGATATAAAACCAGATTGATTTTGGGGCATGGCTGGATTTTGTACTTACTGAAATTGAATTGTGGGTCTTTGTGACATTTATATACTCCTGTTGTTTTAAATAGGAATTTTATGGAGAAAATATAAAAGAGTCTCCTGATTATGAAAGGATCATCAATCTTCGTCATTTTAAGAGGATACTAAGTTTGCTTGAAGGACAAAAGATAGCTTTTGGTGGGGAGACTGATGAGGCCACACGCTACATAGGTAATGGAAATTCTCCTTTTCCTATGGGAAGATGGCAATTTGGCAGTTTTTGCTGACACTACTTATTAACACTAGATAAACTATTAAATATATAGCATTTAATTGTTAAAGTACTAAATCCTGCTTTCTGGTATACTGTACCTGTAGCTTTTGTTATAAACTATTTAAAATGTCTGTGTTTCTGTGTATTGAATGATGCCACCAGCGTTGCTCCAGTTGTTCATATTTACACATAACTCCTTTTTTCCTCCTAACAATCCTGAGAAGCAGAATAGAACTTGATGTAATTATCTGTAGTTTGTGGATGGGAAAACAGCACAAAGAAGGAAATAGCTTGGCCACTATTCCACAATTAACCAGTGACGGTACCATTCCAGAAATAATGTTTTGGTCCATCATGCTTGACCTTATTATTTGTGTACCTTCTTTGTGCTTTTTCTTCTTTGCCTTGAATATGTATTACTTTGAATGTTAAGCACATTTTTCTACAGTAACATATAAGGTGACAGAAAAATTAGACACATTTTGCTGGCAAAGAAGCTGCACCACCTAGCTTTACTTATCCCCTTTATCAGATAAGATGCTATAAGTCACCAAAAAAAAAAAAATCAACTTTAAAAAAAAAAACTTAAAAATGAAATAATAAGCAGAATTGATTCTCTTATAATTAGCAGTCCCGAGGTTCTCCTGAGCTAGATAATTCAGTGGCCCCGTGGTACCATCAAAAAACCCTGATTCTTTGTACTAGGATGCAAAAGAAAACAATCCTTGTGCCTTCTATCTCTCTTGGTGGCAGCCCAGATTGAATTGGGGAATACATCTGTAGAAAAAAGAGAAAACAGACTCTACTTGTTTCACCTCTCTGTTCTCCCATCCTCAGCATGTCCACATTGCCTATTTCTAGGCTAATGAATGGTAAGAGGAAGGGGCTATCCTGATTAGCTTATAGACTAATTAGGACTTTCCCCTGACTTCGAGCTGGGATCATCTTACCTGAGCATGGCTATGCAGAGGAAGTAGACACTCAGCCCAAATTGTTTCTCTGACCTGAGGAAGATGTGGGCAATGGATTTGGAGTGGCAGTTTATATACCCCCTGGAAGTGGTGCTGCAAGAAGCTGTCCCCAGCCACATTGCCAAGATAACCTATTAGAAACTGGGGGTAAAGGAAAAGTGCCAACTTGTTATTGTCAGATGACTTCTCTTTTGGTTGACGAGCCAGTTTCTTACTTACAGCATCTTTTGGAGTACTGCTAGTTGGTGACTTACATTGGCAGCAGATGCTGGGACACTTTGTCTAGCCTCCCCAGCATCTGTTTCACCCTCCTTTCTTGTGCCTCTTCCCCATGGTAGATGGAACAGTGGACTAAGGTTTAGGGAATTTTGACCATTTAAGTCTGTTTTCTTAATCTGTCTAACAGAGTTATAATAAAGGTTAATGAGATCATATATATGAAAGCACTCGAGTTAAGAAAAATAGTATTGATTTGATTCACAGAGGAGCTGTCTTTGCTCCTAGAAAGACCTGTCCATTCGAGACCAGCCTGACCCAACATGGAGAAACCTCATCTCTACTAAAAATACAAAACTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACTCCAGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCATTGCACTCCAGCCTGGGCAACAAGGGCGAAACTCCATCTCAAAAAAAAAACCTGTCCACAGAAAAATGTTAAGTATAATCTACAGTTAAATACATGCATGGCTGTGAACAGGGTTCAATGTGAAAAAGATATATTTGAGTGTGTATCGTTCCCTTGGTTTGCACAAGTATCCGCAGGGTTGTGATTCACAGGCTTTGGAGACATTGAGTATGTGCACAGTTCATCCACGTGCTCAGGATTTTTCA 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TAGCTACTTGGGAGGCTGAGGCACAAGAATTGCTTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCAAGATCATGCTACTGCACTCCAGCCTGGGTAACGGAATGAGATTTTATCTCAAAAGAAAAAAAGATATGAAAATTGTCGCCGTTGTGGTGGTTCACTCCTGTAATCCGAGCACTTTGGGAGGCTAAGGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAAACCAGCCTGGTCAACATAATGAGACCCTGTGTCTACAAAAGAAAAAAAGGTTAGCTGGGTATGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGCCAGAAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAATGAGCCATTATTGCATCACTGTGCTCCAGCCTGAGTGACAGCATAAGACTCTGTCTCAAAAAAACAAAAAAAGAGAAAATTGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGACAGATCACTTGAGGCCAGGAATTCAAGACCAGCTGGGCAACGTAGCAAAATCTTGTCGCTACAAGAAATACAAAAATTCAGGTGTACCGGCGTGTACGTGTGGTCCCAGCTACTTGGCAGGCTGAGGTAGGAGGATCGCTTGATCCTCCTGGGAGGCGGAGGCTGCAGTGAGCCAAGAATGTGCCACTGGACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAGAGAAAATTATGTACCAGGAAGTTCAGGACAATAGTTCACTATGTGTTCCAGGCAGAGTAACTTGGGGGATGAGGTGCTAGGGTCTTGACATGGAAATTGGACTATCATTTTTAGTCATAGGACTAAAAATGGATCCAGATGAGCACATGAAGGGAGAGTTGCCCAGATTCAGGGTATGTGGGAAGAGAGAGTGGTTAAAGATACTTGTGAGATTGAAAATATTTGGGAATTGGAGAATGCTTAGTTGAGTGTGGTGATGAATTCAATTTCAAAGGAATAAGGGCCTCTGCCTCCCTTTGAGGCATTTATACTCTTAACACAGTGGTTCTCAAGCTACATGTTACCCTAGTGAGCCATTTAAAAACAAGTTTGCAAGCCTTACCCTCCAAAGATTCAGCTCGTCTGAGGCCTCCAGGTGATTCTATGATGCATTCAGCATTGAAAACTACTGTTGGTGACTCTCGAGTCAGAGCCCAGGCACATGCATTTTAGCAAGCTGCACCAGTGATTCCGACCACCCAGACTTGAGAATTGCTCTTGGTAGAGGTTGGATGAACAATGTTCATTTTGATTTGGGATGAAATTGGGAACTCTCACAAGGCTTTGAAGTGATGCAGCAATTCAGTAATTTTGTTTGTTTTACTAAGTAAATATTGATTGTATGATTATTGACGTTCTTTTACCTTGGTAATTTACCAAAGCTGTATTTTGATCCTTCGGGTGGTTTCACCATCATGTGTAAGTGGTGGAAATACCAGTTCAAAGAAGACCAAAACAACAAAGTGGAGCAAAGATTGGCAAATGGTTTCTGTAAAGGGCTAGATGGTAAATATTTCAGGCTTTGCAGATGTTAGGGTCTCTGCTGTAACTACCGAACTTACTGTAGGGGGAAAGCAGGCACAGCCAATGTGCTAACAAATAGGCAACTCTGATGCAGAGCAAGACTTCTTTCCCCAGCCTGCTCCCACTGTCAGCCCCAGGAGGTGAAGGCCTGTGGGTGGACTCTAAGAGATCCATAAGAACCTTTGGAACTATGGACAATGACAGATCTCTGTGTGTGTGCATGCTTTATTTTCTGGTCCTCGACCTGCCAAAAAGCTGAAACTTGCTACTATCATACTACTGTTAAATTACTTGAGGGGTGGGGTGTTAGATTCTGTGAGGATATAAAACCAGATTGATTTTGGGGCATGGCTGGATTTTGTACTTACTGAAATTGAATTGTGGGTCTTTGTGACATTTATATACTCCTGTTGTTTTAAATAGGAATTTTATGGAGAAAATATAAAAGAGTCTCCTGATAATGAAAGGATCATCAATCTTCGTCATTTTAAGAGGATACTAAGTTTGCTTGAAGGACAAAAGATAGCTTTTGGTGGGGAGACTGATGAGGCCACACGCTACATAGGTAATGGAAATTCTCCTTTTCCTATGGGAAGATGGCAATTTGGCAGTTTTTGCTGACACTACTTATTAACACTAGATAAACTATTAAATATATAGCATTTAATTGTTAAAGTACTAAATCCTGCTTTCTGGTATACTGTACCTGTAGCTTTTGTTATAAACTATTTAAAATGTCTGTGTTTCTGTGTATTGAATGATGCCACCAGCGTTGCTCCAGTTGTTCATATTTACACATAACTCCTTTTTTCCTCCTAACAATCCTGAGAAGCAGAATAGAACTTGATGTAATTATCTGTAGTTTGTGGATGGGAAAACAGCACAAAGAAGGAAATAGCTTGGCCACTATTCCACAATTAACCAGTGACGGTACCATTCCAGAAATAATGTTTTGGTCCATCATGCTTGACCTTATTATTTGTGTACCTTCTTTGTGCTTTTTCTTCTTTGCCTTGAATATGTATTACTTTGAATGTTAAGCACATTTTTCTACAGTAACATATAAGGTGACAGAAAAATTAGACACATTTTGCTGGCAAAGAAGCTGCACCACCTAGCTTTACTTATCCCCTTTATCAGATAAGATGCTATAAGTCACCAAAAAAAAAAAAATCAACTTTAAAAAAAAAAACTTAAAAATGAAATAATAAGCAGAATTGATTCTCTTATAATTAGCAGTCCCGAGGTTCTCCTGAGCTAGATAATTCAGTGGCCCCGTGGTACCATCAAAAAACCCTGATTCTTTGTACTAGGATGCAAAAGAAAACAATCCTTGTGCCTTCTATCTCTCTTGGTGGCAGCCCAGATTGAATTGGGGAATACATCTGTAGAAAAAAGAGAAAACAGACTCTACTTGTTTCACCTCTCTGTTCTCCCATCCTCAGCATGTCCACATTGCCTATTTCTAGGCTAATGAATGGTAAGAGGAAGGGGCTATCCTGATTAGCTTATAGACTAATTAGGACTTTCCCCTGACTTCGAGCTGGGATCATCTTACCTGAGCATGGCTATGCAGAGGAAGTAGACACTCAGCCCAAATTGTTTCTCTGACCTGAGGAAGATGTGGGCAATGGATTTGGAGTGGCAGTTTATATACCCCCTGGAAGTGGTGCTGCAAGAAGCTGTCCCCAGCCACATTGCCAAGATAACCTATTAGAAACTGGGGGTAAAGGAAAAGTGCCAACTTGTTATTGTCAGATGACTTCTCTTTTGGTTGACGAGCCAGTTTCTTACTTACAGCATCTTTTGGAGTACTGCTAGTTGGTGACTTACATTGGCAGCAGATGCTGGGACACTTTGTCTAGCCTCCCCAGCATCTGTTTCACCCTCCTTTCTTGTGCCTCTTCCCCATGGTAGATGGAACAGTGGACTAAGGTTTAGGGAATTTTGACCATTTAAGTCTGTTTTCTTAATCTGTCTAACAGAGTTATAATAAAGGTTAATGAGATCATATATATGAAAGCACTCGAGTTAAGAAAAATAGTATTGATTTGATTCACAGAGGAGCTGTCTTTGCTCCTAGAAAGACCTGTCCATTCGAGACCAGCCTGACCCAACATGGAGAAACCTCATCTCTACTAAAAATACAAAACTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACTCCAGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCATTGCACTCCAGCCTGGGCAACAAGGGCGAAACTCCATCTCAAAAAAAAAACCTGTCCACAGAAAAATGTTAAGTATAATCTACAGTTAAATACATGCATGGCTGTGAACAGGGTTCAATGTGAAAAAGATATATTTGAGTGTGTATCGTTCCCTTGGTTTGCACAAGTATCCGCAGGGTTGTGATTCACAGGCTTTGGAGACATTGAGTATGTGCACAGTTCATCCACGTGCTCAGGATTTTTCA 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Task1_train_23879 | This variant affects gene ALDH3A2 (aldehyde dehydrogenase 3 family member A2) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Sjögren-Larsson syndrome | AACTATTAAATATATAGCATTTAATTGTTAAAGTACTAAATCCTGCTTTCTGGTATACTGTACCTGTAGCTTTTGTTATAAACTATTTAAAATGTCTGTGTTTCTGTGTATTGAATGATGCCACCAGCGTTGCTCCAGTTGTTCATATTTACACATAACTCCTTTTTTCCTCCTAACAATCCTGAGAAGCAGAATAGAACTTGATGTAATTATCTGTAGTTTGTGGATGGGAAAACAGCACAAAGAAGGAAATAGCTTGGCCACTATTCCACAATTAACCAGTGACGGTACCATTCCAGAAATAATGTTTTGGTCCATCATGCTTGACCTTATTATTTGTGTACCTTCTTTGTGCTTTTTCTTCTTTGCCTTGAATATGTATTACTTTGAATGTTAAGCACATTTTTCTACAGTAACATATAAGGTGACAGAAAAATTAGACACATTTTGCTGGCAAAGAAGCTGCACCACCTAGCTTTACTTATCCCCTTTATCAGATAAGATGCTATAAGTCACCAAAAAAAAAAAAATCAACTTTAAAAAAAAAAACTTAAAAATGAAATAATAAGCAGAATTGATTCTCTTATAATTAGCAGTCCCGAGGTTCTCCTGAGCTAGATAATTCAGTGGCCCCGTGGTACCATCAAAAAACCCTGATTCTTTGTACTAGGATGCAAAAGAAAACAATCCTTGTGCCTTCTATCTCTCTTGGTGGCAGCCCAGATTGAATTGGGGAATACATCTGTAGAAAAAAGAGAAAACAGACTCTACTTGTTTCACCTCTCTGTTCTCCCATCCTCAGCATGTCCACATTGCCTATTTCTAGGCTAATGAATGGTAAGAGGAAGGGGCTATCCTGATTAGCTTATAGACTAATTAGGACTTTCCCCTGACTTCGAGCTGGGATCATCTTACCTGAGCATGGCTATGCAGAGGAAGTAGACACTCAGCCCAAATTGTTTCTCTGACCTGAGGAAGATGTGGGCAATGGATTTGGAGTGGCAGTTTATATACCCCCTGGAAGTGGTGCTGCAAGAAGCTGTCCCCAGCCACATTGCCAAGATAACCTATTAGAAACTGGGGGTAAAGGAAAAGTGCCAACTTGTTATTGTCAGATGACTTCTCTTTTGGTTGACGAGCCAGTTTCTTACTTACAGCATCTTTTGGAGTACTGCTAGTTGGTGACTTACATTGGCAGCAGATGCTGGGACACTTTGTCTAGCCTCCCCAGCATCTGTTTCACCCTCCTTTCTTGTGCCTCTTCCCCATGGTAGATGGAACAGTGGACTAAGGTTTAGGGAATTTTGACCATTTAAGTCTGTTTTCTTAATCTGTCTAACAGAGTTATAATAAAGGTTAATGAGATCATATATATGAAAGCACTCGAGTTAAGAAAAATAGTATTGATTTGATTCACAGAGGAGCTGTCTTTGCTCCTAGAAAGACCTGTCCATTCGAGACCAGCCTGACCCAACATGGAGAAACCTCATCTCTACTAAAAATACAAAACTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACTCCAGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCATTGCACTCCAGCCTGGGCAACAAGGGCGAAACTCCATCTCAAAAAAAAAACCTGTCCACAGAAAAATGTTAAGTATAATCTACAGTTAAATACATGCATGGCTGTGAACAGGGTTCAATGTGAAAAAGATATATTTGAGTGTGTATCGTTCCCTTGGTTTGCACAAGTATCCGCAGGGTTGTGATTCACAGGCTTTGGAGACATTGAGTATGTGCACAGTTCATCCACGTGCTCAGGATTTTTCAATAGATATGACTTGGGTGGGAGAGGGAAAGGCATGGATAAGTGACCCAATGAAAGAGATGTAATATGAGAGTTGTGCATTTTTGTCTAATAAGCATTTTCATTTTGTTTATTTTCTTTTTAGCCCCAACAGTACTTACCGATGTTGATCCTAAAACCAAGGTGATGCAAGAAGAAATTTTTGGACCAATTCTTCCAATAGTGCCTGTGAAAAATGTAGATGAGGCCATAAATTTCATAAATGAACGTGAAAAGCCTCTGGCTCTTTATGTATTTTCGCATAACCATAAGGTAAGCTTTAGAGAGAACAGCTAGTTAGCATAAGCAACTGTCAAGAGTCATGTTCCTTCTTTGCTGTAAAACAATGCAAAAAACAATGTGAAACAATGATGGTTTCTTTTGTGTCATGTCAGAGTCCATCCACTAAGTGAGGTTGTGTTCCGAGGTTGCTGTCTTGGTTAATGAGACTCTGGGGTTATCACAGCATCCATTCCCCTCCTCCCTCGGGTTAGATCTGAGTCTGCAGGGTTGAGTGTCACAAGGTTTTTGATTCACAAACATCTCCTGTATAATTGGAAGACTTATATGTGCCAGCATTAAATGCTTTTCTGATGTTAATCCACAGGGCATTGCTGAATAACAGCCTGCACAAAATGGCATTCACACCCACTGTGTGGGACAAAGACCCCGACACTGTCACATAAATGGTTGTGATATGATGGATTTTAGTTTCTAACATGACGCTAGCTTCTTGTTAGAGTGGTGGAACTGCATCACCTGGTTGAGCAGTTCTGCCACTTTCTGCATGGCTCACTCATTCATGTCACTAGGTGACCAGCCGCTACTAAGAGACCATGGCCCAAATGTTTTCTGGAGAGCTTCTGATGGTAATGTATAGATAGTCATGTGACAGCTTTTGGAGCTTGTGAGACTATTGAGATACAGATAGCTACAGGTATTTGAAGTGAGACCAAATGTGTGGGGCTCAGTAAAGACTGGGTTATTAACAAAACAATGGTTTGACATTTAAAACCATGGATAATGTGGGCAGGAAGGAACCCTGAAGCCGAAAGTAGGCTGGCCAGGGTATAAGTCAGGTGTGGAGCACTTCCCAGCAGTGGGTCACCCGAGGTCACTATAGTCCAGACTTGACGTTTGCCATGAACAATTGTCAAGGGCTTGCTGGCACCCAAGGGTAAATGACGTTTACTAGTCAAGTGTTCTTGTGCTTTTCTGAGCCTTAGGCCAAACAACCATTTATTTCTTAAAAAATAGGATGCTAAATCTAAAGTCTTAAATATTTTTACATTTCATAAAGACTAAATAATACCTATTAATCATGTGTTATAATTTAAAGCAGAGATAAGAAAGAAATAATAACAGTTTTTAAAGCTGGAATATAGTCTAAGCTGTCCCCTTTTAAAGAGTCTTTTGCTGCTGTGTTGGGGAGTACAACTCCAGGTTGTGGCTGAGTAGGCCCAGAGGTTTGGAGCTGCCTCCTTTTGTGCACTAGATGTGTGTCTGAGAAGTTGGGTATCAGTCACTTTGCTAAATTAACCAGTTGAGATTGTTTGTCTATCTGGCATGGTGTCCCCAAACTCGAGAATTTTCACTGACACAAAGCCAGAATGTGCATGCTTTGAGCACATAACTGAGCACACAGCCCTCTGTGTGGTGGGGCCATGAGTGTTCCCTAAGGGGCAACTTCACTGACCTGGACACCTTTGGTCTGTCCTCAGCTCATCAAACGGATGATTGATGAGACATCCAGTGGAGGTGTCACAGGCAATGACGTCATTATGCACTTCACGCTCAACTCTTTCCCATTTGGAGGAGTGGGTGAGTCTTATTTTCTCCTGCTTGTAGTAGATATTTCAAAAGCACCACCATTTCATGAGTGGATTGTATGGGCTGCTGAAATAGCCAGCTGTTGCGTACCCTGATTGTCCTCTCCTGAGGGAGACCTTTTCCTGGTCACCCAGTTGACTGGTTTTCCTGCTTCCCCACCCACCCCTCCAGCATAGGGCAAATGTCTTGTCACTCTCTTTCTGTCAGCAGCACTGACTGACCACAGCTTTGTTCACTTCGTTGATTTTGTTATCCTGCCACATTTAGGAGATTTGGGAACCAAGAATCAGGTCTCAAATTAATTAAGAAGATCTCTCTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGTGTTTAATGAAGTAGCAAATGAAAGG 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AACTATTAAATATATAGCATTTAATTGTTAAAGTACTAAATCCTGCTTTCTGGTATACTGTACCTGTAGCTTTTGTTATAAACTATTTAAAATGTCTGTGTTTCTGTGTATTGAATGATGCCACCAGCGTTGCTCCAGTTGTTCATATTTACACATAACTCCTTTTTTCCTCCTAACAATCCTGAGAAGCAGAATAGAACTTGATGTAATTATCTGTAGTTTGTGGATGGGAAAACAGCACAAAGAAGGAAATAGCTTGGCCACTATTCCACAATTAACCAGTGACGGTACCATTCCAGAAATAATGTTTTGGTCCATCATGCTTGACCTTATTATTTGTGTACCTTCTTTGTGCTTTTTCTTCTTTGCCTTGAATATGTATTACTTTGAATGTTAAGCACATTTTTCTACAGTAACATATAAGGTGACAGAAAAATTAGACACATTTTGCTGGCAAAGAAGCTGCACCACCTAGCTTTACTTATCCCCTTTATCAGATAAGATGCTATAAGTCACCAAAAAAAAAAAAATCAACTTTAAAAAAAAAAACTTAAAAATGAAATAATAAGCAGAATTGATTCTCTTATAATTAGCAGTCCCGAGGTTCTCCTGAGCTAGATAATTCAGTGGCCCCGTGGTACCATCAAAAAACCCTGATTCTTTGTACTAGGATGCAAAAGAAAACAATCCTTGTGCCTTCTATCTCTCTTGGTGGCAGCCCAGATTGAATTGGGGAATACATCTGTAGAAAAAAGAGAAAACAGACTCTACTTGTTTCACCTCTCTGTTCTCCCATCCTCAGCATGTCCACATTGCCTATTTCTAGGCTAATGAATGGTAAGAGGAAGGGGCTATCCTGATTAGCTTATAGACTAATTAGGACTTTCCCCTGACTTCGAGCTGGGATCATCTTACCTGAGCATGGCTATGCAGAGGAAGTAGACACTCAGCCCAAATTGTTTCTCTGACCTGAGGAAGATGTGGGCAATGGATTTGGAGTGGCAGTTTATATACCCCCTGGAAGTGGTGCTGCAAGAAGCTGTCCCCAGCCACATTGCCAAGATAACCTATTAGAAACTGGGGGTAAAGGAAAAGTGCCAACTTGTTATTGTCAGATGACTTCTCTTTTGGTTGACGAGCCAGTTTCTTACTTACAGCATCTTTTGGAGTACTGCTAGTTGGTGACTTACATTGGCAGCAGATGCTGGGACACTTTGTCTAGCCTCCCCAGCATCTGTTTCACCCTCCTTTCTTGTGCCTCTTCCCCATGGTAGATGGAACAGTGGACTAAGGTTTAGGGAATTTTGACCATTTAAGTCTGTTTTCTTAATCTGTCTAACAGAGTTATAATAAAGGTTAATGAGATCATATATATGAAAGCACTCGAGTTAAGAAAAATAGTATTGATTTGATTCACAGAGGAGCTGTCTTTGCTCCTAGAAAGACCTGTCCATTCGAGACCAGCCTGACCCAACATGGAGAAACCTCATCTCTACTAAAAATACAAAACTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACTCCAGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCATTGCACTCCAGCCTGGGCAACAAGGGCGAAACTCCATCTCAAAAAAAAAACCTGTCCACAGAAAAATGTTAAGTATAATCTACAGTTAAATACATGCATGGCTGTGAACAGGGTTCAATGTGAAAAAGATATATTTGAGTGTGTATCGTTCCCTTGGTTTGCACAAGTATCCGCAGGGTTGTGATTCACAGGCTTTGGAGACATTGAGTATGTGCACAGTTCATCCACGTGCTCAGGATTTTTCAATAGATATGACTTGGGTGGGAGAGGGAAAGGCATGGATAAGTGACCCAATGAAAGAGATGTAATATGAGAGTTGTGCATTTTTGTCTAATAAGCATTTTCATTTTGTTTATTTTCTTTTTAGCCCCAACAGTACTTACCGATGTTGATCCTAAAACCAAGGTGATGCAAGAAGAAATTTTTGGATCAATTCTTCCAATAGTGCCTGTGAAAAATGTAGATGAGGCCATAAATTTCATAAATGAACGTGAAAAGCCTCTGGCTCTTTATGTATTTTCGCATAACCATAAGGTAAGCTTTAGAGAGAACAGCTAGTTAGCATAAGCAACTGTCAAGAGTCATGTTCCTTCTTTGCTGTAAAACAATGCAAAAAACAATGTGAAACAATGATGGTTTCTTTTGTGTCATGTCAGAGTCCATCCACTAAGTGAGGTTGTGTTCCGAGGTTGCTGTCTTGGTTAATGAGACTCTGGGGTTATCACAGCATCCATTCCCCTCCTCCCTCGGGTTAGATCTGAGTCTGCAGGGTTGAGTGTCACAAGGTTTTTGATTCACAAACATCTCCTGTATAATTGGAAGACTTATATGTGCCAGCATTAAATGCTTTTCTGATGTTAATCCACAGGGCATTGCTGAATAACAGCCTGCACAAAATGGCATTCACACCCACTGTGTGGGACAAAGACCCCGACACTGTCACATAAATGGTTGTGATATGATGGATTTTAGTTTCTAACATGACGCTAGCTTCTTGTTAGAGTGGTGGAACTGCATCACCTGGTTGAGCAGTTCTGCCACTTTCTGCATGGCTCACTCATTCATGTCACTAGGTGACCAGCCGCTACTAAGAGACCATGGCCCAAATGTTTTCTGGAGAGCTTCTGATGGTAATGTATAGATAGTCATGTGACAGCTTTTGGAGCTTGTGAGACTATTGAGATACAGATAGCTACAGGTATTTGAAGTGAGACCAAATGTGTGGGGCTCAGTAAAGACTGGGTTATTAACAAAACAATGGTTTGACATTTAAAACCATGGATAATGTGGGCAGGAAGGAACCCTGAAGCCGAAAGTAGGCTGGCCAGGGTATAAGTCAGGTGTGGAGCACTTCCCAGCAGTGGGTCACCCGAGGTCACTATAGTCCAGACTTGACGTTTGCCATGAACAATTGTCAAGGGCTTGCTGGCACCCAAGGGTAAATGACGTTTACTAGTCAAGTGTTCTTGTGCTTTTCTGAGCCTTAGGCCAAACAACCATTTATTTCTTAAAAAATAGGATGCTAAATCTAAAGTCTTAAATATTTTTACATTTCATAAAGACTAAATAATACCTATTAATCATGTGTTATAATTTAAAGCAGAGATAAGAAAGAAATAATAACAGTTTTTAAAGCTGGAATATAGTCTAAGCTGTCCCCTTTTAAAGAGTCTTTTGCTGCTGTGTTGGGGAGTACAACTCCAGGTTGTGGCTGAGTAGGCCCAGAGGTTTGGAGCTGCCTCCTTTTGTGCACTAGATGTGTGTCTGAGAAGTTGGGTATCAGTCACTTTGCTAAATTAACCAGTTGAGATTGTTTGTCTATCTGGCATGGTGTCCCCAAACTCGAGAATTTTCACTGACACAAAGCCAGAATGTGCATGCTTTGAGCACATAACTGAGCACACAGCCCTCTGTGTGGTGGGGCCATGAGTGTTCCCTAAGGGGCAACTTCACTGACCTGGACACCTTTGGTCTGTCCTCAGCTCATCAAACGGATGATTGATGAGACATCCAGTGGAGGTGTCACAGGCAATGACGTCATTATGCACTTCACGCTCAACTCTTTCCCATTTGGAGGAGTGGGTGAGTCTTATTTTCTCCTGCTTGTAGTAGATATTTCAAAAGCACCACCATTTCATGAGTGGATTGTATGGGCTGCTGAAATAGCCAGCTGTTGCGTACCCTGATTGTCCTCTCCTGAGGGAGACCTTTTCCTGGTCACCCAGTTGACTGGTTTTCCTGCTTCCCCACCCACCCCTCCAGCATAGGGCAAATGTCTTGTCACTCTCTTTCTGTCAGCAGCACTGACTGACCACAGCTTTGTTCACTTCGTTGATTTTGTTATCCTGCCACATTTAGGAGATTTGGGAACCAAGAATCAGGTCTCAAATTAATTAAGAAGATCTCTCTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGTGTTTAATGAAGTAGCAAATGAAAGG 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Task1_train_23880 | Located on Chromosome 17, this mutation impacts ALDH3A2 (aldehyde dehydrogenase 3 family member A2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not specified | AAACTCCATCTCAAAAAAAAAACCTGTCCACAGAAAAATGTTAAGTATAATCTACAGTTAAATACATGCATGGCTGTGAACAGGGTTCAATGTGAAAAAGATATATTTGAGTGTGTATCGTTCCCTTGGTTTGCACAAGTATCCGCAGGGTTGTGATTCACAGGCTTTGGAGACATTGAGTATGTGCACAGTTCATCCACGTGCTCAGGATTTTTCAATAGATATGACTTGGGTGGGAGAGGGAAAGGCATGGATAAGTGACCCAATGAAAGAGATGTAATATGAGAGTTGTGCATTTTTGTCTAATAAGCATTTTCATTTTGTTTATTTTCTTTTTAGCCCCAACAGTACTTACCGATGTTGATCCTAAAACCAAGGTGATGCAAGAAGAAATTTTTGGACCAATTCTTCCAATAGTGCCTGTGAAAAATGTAGATGAGGCCATAAATTTCATAAATGAACGTGAAAAGCCTCTGGCTCTTTATGTATTTTCGCATAACCATAAGGTAAGCTTTAGAGAGAACAGCTAGTTAGCATAAGCAACTGTCAAGAGTCATGTTCCTTCTTTGCTGTAAAACAATGCAAAAAACAATGTGAAACAATGATGGTTTCTTTTGTGTCATGTCAGAGTCCATCCACTAAGTGAGGTTGTGTTCCGAGGTTGCTGTCTTGGTTAATGAGACTCTGGGGTTATCACAGCATCCATTCCCCTCCTCCCTCGGGTTAGATCTGAGTCTGCAGGGTTGAGTGTCACAAGGTTTTTGATTCACAAACATCTCCTGTATAATTGGAAGACTTATATGTGCCAGCATTAAATGCTTTTCTGATGTTAATCCACAGGGCATTGCTGAATAACAGCCTGCACAAAATGGCATTCACACCCACTGTGTGGGACAAAGACCCCGACACTGTCACATAAATGGTTGTGATATGATGGATTTTAGTTTCTAACATGACGCTAGCTTCTTGTTAGAGTGGTGGAACTGCATCACCTGGTTGAGCAGTTCTGCCACTTTCTGCATGGCTCACTCATTCATGTCACTAGGTGACCAGCCGCTACTAAGAGACCATGGCCCAAATGTTTTCTGGAGAGCTTCTGATGGTAATGTATAGATAGTCATGTGACAGCTTTTGGAGCTTGTGAGACTATTGAGATACAGATAGCTACAGGTATTTGAAGTGAGACCAAATGTGTGGGGCTCAGTAAAGACTGGGTTATTAACAAAACAATGGTTTGACATTTAAAACCATGGATAATGTGGGCAGGAAGGAACCCTGAAGCCGAAAGTAGGCTGGCCAGGGTATAAGTCAGGTGTGGAGCACTTCCCAGCAGTGGGTCACCCGAGGTCACTATAGTCCAGACTTGACGTTTGCCATGAACAATTGTCAAGGGCTTGCTGGCACCCAAGGGTAAATGACGTTTACTAGTCAAGTGTTCTTGTGCTTTTCTGAGCCTTAGGCCAAACAACCATTTATTTCTTAAAAAATAGGATGCTAAATCTAAAGTCTTAAATATTTTTACATTTCATAAAGACTAAATAATACCTATTAATCATGTGTTATAATTTAAAGCAGAGATAAGAAAGAAATAATAACAGTTTTTAAAGCTGGAATATAGTCTAAGCTGTCCCCTTTTAAAGAGTCTTTTGCTGCTGTGTTGGGGAGTACAACTCCAGGTTGTGGCTGAGTAGGCCCAGAGGTTTGGAGCTGCCTCCTTTTGTGCACTAGATGTGTGTCTGAGAAGTTGGGTATCAGTCACTTTGCTAAATTAACCAGTTGAGATTGTTTGTCTATCTGGCATGGTGTCCCCAAACTCGAGAATTTTCACTGACACAAAGCCAGAATGTGCATGCTTTGAGCACATAACTGAGCACACAGCCCTCTGTGTGGTGGGGCCATGAGTGTTCCCTAAGGGGCAACTTCACTGACCTGGACACCTTTGGTCTGTCCTCAGCTCATCAAACGGATGATTGATGAGACATCCAGTGGAGGTGTCACAGGCAATGACGTCATTATGCACTTCACGCTCAACTCTTTCCCATTTGGAGGAGTGGGTGAGTCTTATTTTCTCCTGCTTGTAGTAGATATTTCAAAAGCACCACCATTTCATGAGTGGATTGTATGGGCTGCTGAAATAGCCAGCTGTTGCGTACCCTGATTGTCCTCTCCTGAGGGAGACCTTTTCCTGGTCACCCAGTTGACTGGTTTTCCTGCTTCCCCACCCACCCCTCCAGCATAGGGCAAATGTCTTGTCACTCTCTTTCTGTCAGCAGCACTGACTGACCACAGCTTTGTTCACTTCGTTGATTTTGTTATCCTGCCACATTTAGGAGATTTGGGAACCAAGAATCAGGTCTCAAATTAATTAAGAAGATCTCTCTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGTGTTTAATGAAGTAGCAAATGAAAGGTTCGGAATACCAGGGACAGAAGGTAGAGGGGTTTTCTAATGTGCCTTTGTTTTCTGCTCAGTTCTTACCTGCATTGTTCCCCAGCCCTTTGTTGGGAGGAGCAGCCTCTCCTTGAATTGTTTTGTGATTTGAGTAAAACGGGACTCCCCCTGTTCTAGAGAGGATGGGCAGAAAGAAATTCATTCCAAGTGAAGCTTTGTGGACATAGCCTGATCCTTGCTTTTCCCTTTAGAACATGACCTGCCTGCCTCTCCCACATGTGAGATGACTGACTCAGCTTTTTATTTCTCCTTTGGGACCTAGGCTAGGTGGGCTTTTCTACTCTCTACTAGAGCTATTACAAAATAGCCGATATGTAAACATTCTCATAACAAAAACCCAACCAGAAAAGCCACTGTCTTAAAGCCCTGTTCTATCCTCTCCCTTTGTAATACCGTCCTAAGTCAGTTGCTCCATGGGATGCGATGGCCCAGTTTGGCAGGACCATCTGTTCCTGGTTAAGGAAACCTTGTCCTATGACCAAGGAGCCTTGACCTATATAGCCACAGGTCCTTGTCTAGGAGGTAAACATATTGCCAGCACCCAGCACAGTGACTGACATGAGTGAGGGACAGGCGGGAAGAGGCCAATTGGTAGGTATTGCCAGATCCAAATTGGAAATGGTGGTGGCTTGTAGAGGGTGGTAGCAGGGGAGATAGTGGAAAGGGAAGGGGGTATTTTTGGGATCAAGCAGCAGGATTGGCTGATGGAGTGAATGTTGGAGGAGGGGGTGAATGAGAGAGGATGACTCCTGGGATTTTGGCTGGAGTAAGTAATAGTTTTGTAGCCCAAATGCTTAAAAGATTGGACTCTGTTGTCTCTGTTCCTCAGCTCACCACATAGGATCCTGGCATCCACTGTGCTAGTGCAGTAATCAACTCGGTAATTGTTCCATATGGTGTCTCCACTGCCCTCTAATTGCAAATCTAAGTGACTTGGGTTCAGTCCCTGTCCTACTTGACAAGATAGCCTGTGGCATCATTGACTATACCATCTTATTTAAAACAAAACAAGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAATGTTAGCTGGGTGTGGTGGTGCGTGCCTGTAGTCCCAGCTACCAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCAGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCAAACCTGGCAAACAGAGCGAGACTCCGATCTCAAAATAAATAAATAAATAAATAAATAAATAAATAAATAAAAATAATAAAATAAAACAAGCAACCTATTATATACCCACAAAAATTAAAAATACAAAAAGAAGATGCAAAAGAAAAAAACAGGTTTACTCTCTTAGCAAATTTCAGGCATATAATACATTATTATAGTGGCCATGCTGTAAAAAAATAAAAATAAAAAATAAAAACAAGCCTTGACCCCCAAATGTAAAAAGAATACAGGCTTTTTAAGAAAACTTGGAAAAGATAGAAGAGCCCAAAGAATAAACATTTATATTACCCATAACCCCACTATG 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AAACTCCATCTCAAAAAAAAAACCTGTCCACAGAAAAATGTTAAGTATAATCTACAGTTAAATACATGCATGGCTGTGAACAGGGTTCAATGTGAAAAAGATATATTTGAGTGTGTATCGTTCCCTTGGTTTGCACAAGTATCCGCAGGGTTGTGATTCACAGGCTTTGGAGACATTGAGTATGTGCACAGTTCATCCACGTGCTCAGGATTTTTCAATAGATATGACTTGGGTGGGAGAGGGAAAGGCATGGATAAGTGACCCAATGAAAGAGATGTAATATGAGAGTTGTGCATTTTTGTCTAATAAGCATTTTCATTTTGTTTATTTTCTTTTTAGCCCCAACAGTACTTACCGATGTTGATCCTAAAACCAAGGTGATGCAAGAAGAAATTTTTGGACCAATTCTTCCAATAGTGCCTGTGAAAAATGTAGATGAGGCCATAAATTTCATAAATGAACGTGAAAAGCCTCTGGCTCTTTATGTATTTTCGCATAACCATAAGGTAAGCTTTAGAGAGAACAGCTAGTTAGCATAAGCAACTGTCAAGAGTCATGTTCCTTCTTTGCTGTAAAACAATGCAAAAAACAATGTGAAACAATGATGGTTTCTTTTGTGTCATGTCAGAGTCCATCCACTAAGTGAGGTTGTGTTCCGAGGTTGCTGTCTTGGTTAATGAGACTCTGGGGTTATCACAGCATCCATTCCCCTCCTCCCTCGGGTTAGATCTGAGTCTGCAGGGTTGAGTGTCACAAGGTTTTTGATTCACAAACATCTCCTGTATAATTGGAAGACTTATATGTGCCAGCATTAAATGCTTTTCTGATGTTAATCCACAGGGCATTGCTGAATAACAGCCTGCACAAAATGGCATTCACACCCACTGTGTGGGACAAAGACCCCGACACTGTCACATAAATGGTTGTGATATGATGGATTTTAGTTTCTAACATGACGCTAGCTTCTTGTTAGAGTGGTGGAACTGCATCACCTGGTTGAGCAGTTCTGCCACTTTCTGCATGGCTCACTCATTCATGTCACTAGGTGACCAGCCGCTACTAAGAGACCATGGCCCAAATGTTTTCTGGAGAGCTTCTGATGGTAATGTATAGATAGTCATGTGACAGCTTTTGGAGCTTGTGAGACTATTGAGATACAGATAGCTACAGGTATTTGAAGTGAGACCAAATGTGTGGGGCTCAGTAAAGACTGGGTTATTAACAAAACAATGGTTTGACATTTAAAACCATGGATAATGTGGGCAGGAAGGAACCCTGAAGCCGAAAGTAGGCTGGCCAGGGTATAAGTCAGGTGTGGAGCACTTCCCAGCAGTGGGTCACCCGAGGTCACTATAGTCCAGACTTGACGTTTGCCATGAACAATTGTCAAGGGCTTGCTGGCACCCAAGGGTAAATGACGTTTACTAGTCAAGTGTTCTTGTGCTTTTCTGAGCCTTAGGCCAAACAACCATTTATTTCTTAAAAAATAGGATGCTAAATCTAAAGTCTTAAATATTTTTACATTTCATAAAGACTAAATAATACCTATTAATCATGTGTTATAATTTAAAGCAGAGATAAGAAAGAAATAATAACAGTTTTTAAAGCTGGAATATAGTCTAAGCTGTCCCCTTTTAAAGAGTCTTTTGCTGCTGTGTTGGGGAGTACAACTCCAGGTTGTGGCTGAGTAGGCCCAGAGGTTTGGAGCTGCCTCCTTTTGTGCACTAGATGTGTGTCTGAGAAGTTGGGTATCAGTCACTTTGCTAAATTAACCAGTTGAGATTGTTTGTCTATCTGGCATGGTGTCCCCAAACTCGAGAATTTTCACTGACACAAAGCCAGAATGTGCATGCTTTGAGCACATAACTGAGCACACAGCCCTCTGTGTGGTGGGGCCATGAGTGTTCCCTAAGGGGCAACTTCACTGACCTGGACACCTTTGGTCTGTCCTCAGCTCATCAAACGGATGATTGATGAGACATCCAGTGGAGGTGTCACAGGCAATGACGTCATTATGCACTTCACGCTCAACTCTTTCCCATTTGGAGAAGTGGGTGAGTCTTATTTTCTCCTGCTTGTAGTAGATATTTCAAAAGCACCACCATTTCATGAGTGGATTGTATGGGCTGCTGAAATAGCCAGCTGTTGCGTACCCTGATTGTCCTCTCCTGAGGGAGACCTTTTCCTGGTCACCCAGTTGACTGGTTTTCCTGCTTCCCCACCCACCCCTCCAGCATAGGGCAAATGTCTTGTCACTCTCTTTCTGTCAGCAGCACTGACTGACCACAGCTTTGTTCACTTCGTTGATTTTGTTATCCTGCCACATTTAGGAGATTTGGGAACCAAGAATCAGGTCTCAAATTAATTAAGAAGATCTCTCTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGTGTTTAATGAAGTAGCAAATGAAAGGTTCGGAATACCAGGGACAGAAGGTAGAGGGGTTTTCTAATGTGCCTTTGTTTTCTGCTCAGTTCTTACCTGCATTGTTCCCCAGCCCTTTGTTGGGAGGAGCAGCCTCTCCTTGAATTGTTTTGTGATTTGAGTAAAACGGGACTCCCCCTGTTCTAGAGAGGATGGGCAGAAAGAAATTCATTCCAAGTGAAGCTTTGTGGACATAGCCTGATCCTTGCTTTTCCCTTTAGAACATGACCTGCCTGCCTCTCCCACATGTGAGATGACTGACTCAGCTTTTTATTTCTCCTTTGGGACCTAGGCTAGGTGGGCTTTTCTACTCTCTACTAGAGCTATTACAAAATAGCCGATATGTAAACATTCTCATAACAAAAACCCAACCAGAAAAGCCACTGTCTTAAAGCCCTGTTCTATCCTCTCCCTTTGTAATACCGTCCTAAGTCAGTTGCTCCATGGGATGCGATGGCCCAGTTTGGCAGGACCATCTGTTCCTGGTTAAGGAAACCTTGTCCTATGACCAAGGAGCCTTGACCTATATAGCCACAGGTCCTTGTCTAGGAGGTAAACATATTGCCAGCACCCAGCACAGTGACTGACATGAGTGAGGGACAGGCGGGAAGAGGCCAATTGGTAGGTATTGCCAGATCCAAATTGGAAATGGTGGTGGCTTGTAGAGGGTGGTAGCAGGGGAGATAGTGGAAAGGGAAGGGGGTATTTTTGGGATCAAGCAGCAGGATTGGCTGATGGAGTGAATGTTGGAGGAGGGGGTGAATGAGAGAGGATGACTCCTGGGATTTTGGCTGGAGTAAGTAATAGTTTTGTAGCCCAAATGCTTAAAAGATTGGACTCTGTTGTCTCTGTTCCTCAGCTCACCACATAGGATCCTGGCATCCACTGTGCTAGTGCAGTAATCAACTCGGTAATTGTTCCATATGGTGTCTCCACTGCCCTCTAATTGCAAATCTAAGTGACTTGGGTTCAGTCCCTGTCCTACTTGACAAGATAGCCTGTGGCATCATTGACTATACCATCTTATTTAAAACAAAACAAGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAATGTTAGCTGGGTGTGGTGGTGCGTGCCTGTAGTCCCAGCTACCAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCAGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCAAACCTGGCAAACAGAGCGAGACTCCGATCTCAAAATAAATAAATAAATAAATAAATAAATAAATAAATAAAAATAATAAAATAAAACAAGCAACCTATTATATACCCACAAAAATTAAAAATACAAAAAGAAGATGCAAAAGAAAAAAACAGGTTTACTCTCTTAGCAAATTTCAGGCATATAATACATTATTATAGTGGCCATGCTGTAAAAAAATAAAAATAAAAAATAAAAACAAGCCTTGACCCCCAAATGTAAAAAGAATACAGGCTTTTTAAGAAAACTTGGAAAAGATAGAAGAGCCCAAAGAATAAACATTTATATTACCCATAACCCCACTATG 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Task1_train_23881 | This is a variant in VMA12 (vacuolar ATPase assembly factor VMA12), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; TMEM199-CDG | GATTCTGGAATGGCACCAAACATCAAGGTGGAATGAATGGAACACCATACCATGCAGGCCTGTGACCTAATCTGACTTTTTTCAGAAGCAGAGCACTCTATGAAAATGAAAGATGACCCAGCCCAATACTCACCTGCCCGGTCTCATATTTTCCATTCTGTTTTGGCACCTCAAACACACCAACTGTCTCCAACACTTTGCCCTCTGGTCGGTTTCTGAGTAGGAAGGAAAAGAACAAGCAACAGAAAAGCTGAGAAGGTAATGGTAGTTATCCATAAGAAAAAGCTCCTAGGATACTGAGGGGCCAGGGCGATGACAGCAGAGAAGGGTTTGGGGTAGTGGGACCAGCTGGAGCAGGAAAGGCTTTCCTCCTCCTTGGTGAAAACCTCCACAGTCTCCCAGTGTTAGATGTGACCGCTCCCATACTACTGTCTTCTCTCTTCACTGGGCATTCTTCATATCATGCCCTCACACTCTGCTCAAATGTACCCCTGCCCTTGTTTCTTCCCTAACCCACCCTCCTGACCTCCCACAGCACTTTAACTGTCTTGCTCACTTTTTCAATTTTTTTAGAAGGGGAGTATCTTTTTTTCTTCTTTTCTTACATTTTCTATATCACAAGTCATCAAACAATATCCTGCTCCCTTTACATTTCAGTTGTGTCCATGTCTTATCTTTATTAAATACTGTAAATTCCCTGGGAGCAATGCCTGAGTCTGATTAGCTGGTACTGCCCCCTCAGAGCCTAGTGTACAAGAGGTGCTCAAAAAATATTTGTCCTGTATTATAATTCCATGTCCATCTCCCCCTCTAACCTGTAGCCCTTACATTGCCCTTGAAAAGCTTAAACATCTCTAGATTTCCTACGGCACATCGCTCTCTCAATACCGTTTTTGTTCATATTCTCACAGGGGTCTTAAATTGCAAATAGCTATCATCTCTCCCCAATGTTCAGTGTCTAATATCAGCCACTAAAATGTCAGTCACCACTCTGAACAGGGCTGCTCTTTCTAGGGGCCCTTCAAATAAAGGCTGTTTTTACTGTTTTGAAGATGTGAACTTTATGCTTCCTCCCACTGATCCACCAGCCCATTTGATCCGCCTGTCCCATCCGTGGAAACAGTTTCCACACCATCCCCATGGCCTCAAACCCCCTTCCCCAAGTCACAGATAGAAAATCGATCTCCCCAAAGTCACTTGGAAACCTGGGGCCTACGAGGGTCCACACCCAAGAGTCTCGTTTCCCACCTCTAGCATCTTTCTGAGGCAGACCTTCACCAAATCCAAAGGCTGAGGGTTCAAGCCAATGCCCTAGGGCTGAATTAAAAAGCTTCCCTCTGACATCGGTGCTGGGGACCCCAGCCGGGGAAGTAGGATTCACTTGGGGAGGGTAACCTGTTCCCCCCCAGGGCCAGCCCTGTACAACCAGGGCTCTGGGCCGCGCTGGCTTCCCTGCTCCTGGCACATGTCCCAGACAGCGCAGGTCGGCTCCCTGCTCGGGACCCTCTCCCGGGTCAAACTCCAGTCACCCTCAGCAGGCCCGGGCCCCTGGCCTCCGCACTGGCTAGGAACACGCTCTCTGGGCTCCAGGCCCAGTTCCTCGCGCCCCCTGGCTCCGTCCCTCACCGGGACGAGAGGTGCCTCCGCGTCGTCGTGGTCGACGCTGGCGAGAAGGCTCCAGCTCCGGCCGCCGCACAGAGCGGCCTTGGCCACCGGGCCCCAGTCAGCGACCGGGACCACCAGCGGCTGCCCACGGCCAGGGCCCGCCGGGCTGTACAGGCTGCCATGTCCCGCCCGAGCGCCCGCCCGGCTGCTGACACAGAGCCCGACCCGCGGCCGGGCGGCGTTCCGCCCCAGTCCCACACTGCCCCGCGCGGCGTCCCGGCCCTCTTGGCCCGCCTGGTCCCACCCCGGAGCTCAGAGCAACTTCCGGTGCGCTTAGCGTTACTTCCGGCGCGCGGCGGGCGGAAGTCCGGGTTGGGGTCACCTGACCGGAGAGCCGGCTAGATATGGCGTCCTCTTTGCTTGCGGGCGAGCGATTGGTGCGTGCTTTGGGCCCCGGCGGGGAGCTGGAGCCAGAGCGGCTACCCCGAAAGCTGCGGGCCGAGCTTGAGGCCGCGCTGGGGAAGAAGCACAAGGGCGGTGATAGCTCCAGTGGCCCCCAACGCTTGGTTTCTTTCCGTCTCATCCGGGATCTGCACCAGCATCTGAGAGAAAGGGGTGAGCCCCAGTCTCCAGTCCGGGGTCCCCTCCTTGTGTCCAGATCGATTCCCTCCTGAGGTCTTTTCCCATCATTCCCCTTCTTCTACGGAGCACTCATCTAGACAAGTCAAGAGTCACTCCATAAATCCCAGGGCCACCCACTTTCTTAACTCCCATGGGAATTTCTCGTGGATGACAAATTTGCTTGTGCAGTTTCTGCTCTTTTGAGAGCCCCCTCTTCACTTCCAGGCACACCTAGGCCCAATTCACCCTTGAGAAAGTCTAGGTTTTTACCAAATACAAATATCACAGGTTTTGTCTCTTCTTTTTCTCCACTTTAGGAATCAGCTTAGCATAGTGAGCTTGTAGGAATCCGGATTTCTTTCCACCTCAAAAGCAAGAGTGGTGAAATCTGATACTTTGTTTTGTTTGTTTGTTTTTTTAATATAGGATGGCAAAAGCTGTGTTGAAAGATCTGGCCTGAGAGTAGCATGTGAGTTCCAGTCCTAGCTCTGTCACTAATCCTTTGAAGGAGTCATTTCTCCTCGCTGGGCCTCAGTTCCCTTATGTGTAAAGGGAAGGAACAGGACAAACTAGCACATAAGGTATTTTGCCAGAAGTAACATAGACCAGCCAGAAGTGCAAAGGGTAGACTGCTCAATTATTAGAACTAGAAAGGACCTTAGAAAGAGATTGCCTAGTATTAGTGTCCTCTGAGCATTTAGCATCACTATGACCTAAACTTATTTAGGGAAGAGCTGTTGTGGCCACAGAACTGATCTAACCCAAAGGCACAAGTAAATGGCTTACTTGTTAGTTATAACACTGGCAGGATAATTGAGAGCTGACAGCTAAAGTCACCTGCGCAGCACTGGGAGATACCTACATGGAATTATCCAAAATTCTTTTCAATTGAAAATGATCCTGGAAATGGATTAATGTAGAGATGGCCCTGTTTTATTTTGGTAGAAAGAAGGGCTACACCCCTCTTGATCTTAACCCTTCAACCTCAGCTCGTGGATCATTGTGTTTGTGAAACCTTTTCTTCTCAGATTCCAAACTATACCTCCATGAGCTCCTAGAAGGCAGTGAAATCTATCTCCCAGAGGTTGTGAAGCCTCCACGGGTATGTAAGGGATATGTTTGTGAGAGTGGTTATTGACTGAGTTGGGCTTATCCATGATACACTGAACTTATAAATCAACTTTTAGGCTTGAAAAATTGTTTTTGAAATCTTTGGGATCTGGGGGAGCCAGATATTGTCCTCCCCATCAGCTGTTTGGAAAATTGAGATCAAAAAAAAAAAAAACAGTTTCAAAGCACTGGAGTTACGACTAGTATGTGGGTCTCCTGATACCTTTAGCAGTGCTTTACCCCTGGAACCAATGATTGTGATGTGCTTTCTAACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAGCCCCTCAGAGTAGGGCCCTGCAGTGGAAGAAGATACAGAGTTTAGAAAAAACATGGAAACTTGGTTTCTATACTGTTCAGGGACCATAGGAAGTCTGCATACAAACAACACAGTTCCCATCTCATTCACTGAGACTCTGGGCTGAGATGGTGACCAAGTTTTAAACGTCATAGAAGTGGGAGTTAGCCGGGCACGGCGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTAGGTGGATCACTTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACATGGTGAAACCCCGTCTTTACAAAAAATACAAAACTT 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GATTCTGGAATGGCACCAAACATCAAGGTGGAATGAATGGAACACCATACCATGCAGGCCTGTGACCTAATCTGACTTTTTTCAGAAGCAGAGCACTCTATGAAAATGAAAGATGACCCAGCCCAATACTCACCTGCCCGGTCTCATATTTTCCATTCTGTTTTGGCACCTCAAACACACCAACTGTCTCCAACACTTTGCCCTCTGGTCGGTTTCTGAGTAGGAAGGAAAAGAACAAGCAACAGAAAAGCTGAGAAGGTAATGGTAGTTATCCATAAGAAAAAGCTCCTAGGATACTGAGGGGCCAGGGCGATGACAGCAGAGAAGGGTTTGGGGTAGTGGGACCAGCTGGAGCAGGAAAGGCTTTCCTCCTCCTTGGTGAAAACCTCCACAGTCTCCCAGTGTTAGATGTGACCGCTCCCATACTACTGTCTTCTCTCTTCACTGGGCATTCTTCATATCATGCCCTCACACTCTGCTCAAATGTACCCCTGCCCTTGTTTCTTCCCTAACCCACCCTCCTGACCTCCCACAGCACTTTAACTGTCTTGCTCACTTTTTCAATTTTTTTAGAAGGGGAGTATCTTTTTTTCTTCTTTTCTTACATTTTCTATATCACAAGTCATCAAACAATATCCTGCTCCCTTTACATTTCAGTTGTGTCCATGTCTTATCTTTATTAAATACTGTAAATTCCCTGGGAGCAATGCCTGAGTCTGATTAGCTGGTACTGCCCCCTCAGAGCCTAGTGTACAAGAGGTGCTCAAAAAATATTTGTCCTGTATTATAATTCCATGTCCATCTCCCCCTCTAACCTGTAGCCCTTACATTGCCCTTGAAAAGCTTAAACATCTCTAGATTTCCTACGGCACATCGCTCTCTCAATACCGTTTTTGTTCATATTCTCACAGGGGTCTTAAATTGCAAATAGCTATCATCTCTCCCCAATGTTCAGTGTCTAATATCAGCCACTAAAATGTCAGTCACCACTCTGAACAGGGCTGCTCTTTCTAGGGGCCCTTCAAATAAAGGCTGTTTTTACTGTTTTGAAGATGTGAACTTTATGCTTCCTCCCACTGATCCACCAGCCCATTTGATCCGCCTGTCCCATCCGTGGAAACAGTTTCCACACCATCCCCATGGCCTCAAACCCCCTTCCCCAAGTCACAGATAGAAAATCGATCTCCCCAAAGTCACTTGGAAACCTGGGGCCTACGAGGGTCCACACCCAAGAGTCTCGTTTCCCACCTCTAGCATCTTTCTGAGGCAGACCTTCACCAAATCCAAAGGCTGAGGGTTCAAGCCAATGCCCTAGGGCTGAATTAAAAAGCTTCCCTCTGACATCGGTGCTGGGGACCCCAGCCGGGGAAGTAGGATTCACTTGGGGAGGGTAACCTGTTCCCCCCCAGGGCCAGCCCTGTACAACCAGGGCTCTGGGCCGCGCTGGCTTCCCTGCTCCTGGCACATGTCCCAGACAGCGCAGGTCGGCTCCCTGCTCGGGACCCTCTCCCGGGTCAAACTCCAGTCACCCTCAGCAGGCCCGGGCCCCTGGCCTCCGCACTGGCTAGGAACACGCTCTCTGGGCTCCAGGCCCAGTTCCTCGCGCCCCCTGGCTCCGTCCCTCACCGGGACGAGAGGTGCCTCCGCGTCGTCGTGGTCGACGCTGGCGAGAAGGCTCCAGCTCCGGCCGCCGCACAGAGCGGCCTTGGCCACCGGGCCCCAGTCAGCGACCGGGACCACCAGCGGCTGCCCACGGCCAGGGCCCGCCGGGCTGTACAGGCTGCCATGTCCCGCCCGAGCGCCCGCCCGGCTGCTGACACAGAGCCCGACCCGCGGCCGGGCGGCGTTCCGCCCCAGTCCCACACTGCCCCGCGCGGCGTCCCGGCCCTCTTGGCCCGCCTGGTCCCACCCCGGAGCTCAGAGCAACTTCCGGTGCGCTTAGCGTTACTTCCGGCGCGCGGCGGGCGGAAGTCCGGGTTGGGGTCACCTGACCGGAGAGCCGGCTAGATATGGCGTCCTCTTTGCTTGCGGGCGAGCGATTGGTGCGTCCTTTGGGCCCCGGCGGGGAGCTGGAGCCAGAGCGGCTACCCCGAAAGCTGCGGGCCGAGCTTGAGGCCGCGCTGGGGAAGAAGCACAAGGGCGGTGATAGCTCCAGTGGCCCCCAACGCTTGGTTTCTTTCCGTCTCATCCGGGATCTGCACCAGCATCTGAGAGAAAGGGGTGAGCCCCAGTCTCCAGTCCGGGGTCCCCTCCTTGTGTCCAGATCGATTCCCTCCTGAGGTCTTTTCCCATCATTCCCCTTCTTCTACGGAGCACTCATCTAGACAAGTCAAGAGTCACTCCATAAATCCCAGGGCCACCCACTTTCTTAACTCCCATGGGAATTTCTCGTGGATGACAAATTTGCTTGTGCAGTTTCTGCTCTTTTGAGAGCCCCCTCTTCACTTCCAGGCACACCTAGGCCCAATTCACCCTTGAGAAAGTCTAGGTTTTTACCAAATACAAATATCACAGGTTTTGTCTCTTCTTTTTCTCCACTTTAGGAATCAGCTTAGCATAGTGAGCTTGTAGGAATCCGGATTTCTTTCCACCTCAAAAGCAAGAGTGGTGAAATCTGATACTTTGTTTTGTTTGTTTGTTTTTTTAATATAGGATGGCAAAAGCTGTGTTGAAAGATCTGGCCTGAGAGTAGCATGTGAGTTCCAGTCCTAGCTCTGTCACTAATCCTTTGAAGGAGTCATTTCTCCTCGCTGGGCCTCAGTTCCCTTATGTGTAAAGGGAAGGAACAGGACAAACTAGCACATAAGGTATTTTGCCAGAAGTAACATAGACCAGCCAGAAGTGCAAAGGGTAGACTGCTCAATTATTAGAACTAGAAAGGACCTTAGAAAGAGATTGCCTAGTATTAGTGTCCTCTGAGCATTTAGCATCACTATGACCTAAACTTATTTAGGGAAGAGCTGTTGTGGCCACAGAACTGATCTAACCCAAAGGCACAAGTAAATGGCTTACTTGTTAGTTATAACACTGGCAGGATAATTGAGAGCTGACAGCTAAAGTCACCTGCGCAGCACTGGGAGATACCTACATGGAATTATCCAAAATTCTTTTCAATTGAAAATGATCCTGGAAATGGATTAATGTAGAGATGGCCCTGTTTTATTTTGGTAGAAAGAAGGGCTACACCCCTCTTGATCTTAACCCTTCAACCTCAGCTCGTGGATCATTGTGTTTGTGAAACCTTTTCTTCTCAGATTCCAAACTATACCTCCATGAGCTCCTAGAAGGCAGTGAAATCTATCTCCCAGAGGTTGTGAAGCCTCCACGGGTATGTAAGGGATATGTTTGTGAGAGTGGTTATTGACTGAGTTGGGCTTATCCATGATACACTGAACTTATAAATCAACTTTTAGGCTTGAAAAATTGTTTTTGAAATCTTTGGGATCTGGGGGAGCCAGATATTGTCCTCCCCATCAGCTGTTTGGAAAATTGAGATCAAAAAAAAAAAAAACAGTTTCAAAGCACTGGAGTTACGACTAGTATGTGGGTCTCCTGATACCTTTAGCAGTGCTTTACCCCTGGAACCAATGATTGTGATGTGCTTTCTAACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAGCCCCTCAGAGTAGGGCCCTGCAGTGGAAGAAGATACAGAGTTTAGAAAAAACATGGAAACTTGGTTTCTATACTGTTCAGGGACCATAGGAAGTCTGCATACAAACAACACAGTTCCCATCTCATTCACTGAGACTCTGGGCTGAGATGGTGACCAAGTTTTAAACGTCATAGAAGTGGGAGTTAGCCGGGCACGGCGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTAGGTGGATCACTTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACATGGTGAAACCCCGTCTTTACAAAAAATACAAAACTT 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Task1_train_23882 | A variant affecting Chromosome 17, within the gene VMA12 (vacuolar ATPase assembly factor VMA12), has been observed. Determine if it's benign or associated with disease. | Pathogenic; TMEM199-related disorder | TGCAGGCCTGTGACCTAATCTGACTTTTTTCAGAAGCAGAGCACTCTATGAAAATGAAAGATGACCCAGCCCAATACTCACCTGCCCGGTCTCATATTTTCCATTCTGTTTTGGCACCTCAAACACACCAACTGTCTCCAACACTTTGCCCTCTGGTCGGTTTCTGAGTAGGAAGGAAAAGAACAAGCAACAGAAAAGCTGAGAAGGTAATGGTAGTTATCCATAAGAAAAAGCTCCTAGGATACTGAGGGGCCAGGGCGATGACAGCAGAGAAGGGTTTGGGGTAGTGGGACCAGCTGGAGCAGGAAAGGCTTTCCTCCTCCTTGGTGAAAACCTCCACAGTCTCCCAGTGTTAGATGTGACCGCTCCCATACTACTGTCTTCTCTCTTCACTGGGCATTCTTCATATCATGCCCTCACACTCTGCTCAAATGTACCCCTGCCCTTGTTTCTTCCCTAACCCACCCTCCTGACCTCCCACAGCACTTTAACTGTCTTGCTCACTTTTTCAATTTTTTTAGAAGGGGAGTATCTTTTTTTCTTCTTTTCTTACATTTTCTATATCACAAGTCATCAAACAATATCCTGCTCCCTTTACATTTCAGTTGTGTCCATGTCTTATCTTTATTAAATACTGTAAATTCCCTGGGAGCAATGCCTGAGTCTGATTAGCTGGTACTGCCCCCTCAGAGCCTAGTGTACAAGAGGTGCTCAAAAAATATTTGTCCTGTATTATAATTCCATGTCCATCTCCCCCTCTAACCTGTAGCCCTTACATTGCCCTTGAAAAGCTTAAACATCTCTAGATTTCCTACGGCACATCGCTCTCTCAATACCGTTTTTGTTCATATTCTCACAGGGGTCTTAAATTGCAAATAGCTATCATCTCTCCCCAATGTTCAGTGTCTAATATCAGCCACTAAAATGTCAGTCACCACTCTGAACAGGGCTGCTCTTTCTAGGGGCCCTTCAAATAAAGGCTGTTTTTACTGTTTTGAAGATGTGAACTTTATGCTTCCTCCCACTGATCCACCAGCCCATTTGATCCGCCTGTCCCATCCGTGGAAACAGTTTCCACACCATCCCCATGGCCTCAAACCCCCTTCCCCAAGTCACAGATAGAAAATCGATCTCCCCAAAGTCACTTGGAAACCTGGGGCCTACGAGGGTCCACACCCAAGAGTCTCGTTTCCCACCTCTAGCATCTTTCTGAGGCAGACCTTCACCAAATCCAAAGGCTGAGGGTTCAAGCCAATGCCCTAGGGCTGAATTAAAAAGCTTCCCTCTGACATCGGTGCTGGGGACCCCAGCCGGGGAAGTAGGATTCACTTGGGGAGGGTAACCTGTTCCCCCCCAGGGCCAGCCCTGTACAACCAGGGCTCTGGGCCGCGCTGGCTTCCCTGCTCCTGGCACATGTCCCAGACAGCGCAGGTCGGCTCCCTGCTCGGGACCCTCTCCCGGGTCAAACTCCAGTCACCCTCAGCAGGCCCGGGCCCCTGGCCTCCGCACTGGCTAGGAACACGCTCTCTGGGCTCCAGGCCCAGTTCCTCGCGCCCCCTGGCTCCGTCCCTCACCGGGACGAGAGGTGCCTCCGCGTCGTCGTGGTCGACGCTGGCGAGAAGGCTCCAGCTCCGGCCGCCGCACAGAGCGGCCTTGGCCACCGGGCCCCAGTCAGCGACCGGGACCACCAGCGGCTGCCCACGGCCAGGGCCCGCCGGGCTGTACAGGCTGCCATGTCCCGCCCGAGCGCCCGCCCGGCTGCTGACACAGAGCCCGACCCGCGGCCGGGCGGCGTTCCGCCCCAGTCCCACACTGCCCCGCGCGGCGTCCCGGCCCTCTTGGCCCGCCTGGTCCCACCCCGGAGCTCAGAGCAACTTCCGGTGCGCTTAGCGTTACTTCCGGCGCGCGGCGGGCGGAAGTCCGGGTTGGGGTCACCTGACCGGAGAGCCGGCTAGATATGGCGTCCTCTTTGCTTGCGGGCGAGCGATTGGTGCGTGCTTTGGGCCCCGGCGGGGAGCTGGAGCCAGAGCGGCTACCCCGAAAGCTGCGGGCCGAGCTTGAGGCCGCGCTGGGGAAGAAGCACAAGGGCGGTGATAGCTCCAGTGGCCCCCAACGCTTGGTTTCTTTCCGTCTCATCCGGGATCTGCACCAGCATCTGAGAGAAAGGGGTGAGCCCCAGTCTCCAGTCCGGGGTCCCCTCCTTGTGTCCAGATCGATTCCCTCCTGAGGTCTTTTCCCATCATTCCCCTTCTTCTACGGAGCACTCATCTAGACAAGTCAAGAGTCACTCCATAAATCCCAGGGCCACCCACTTTCTTAACTCCCATGGGAATTTCTCGTGGATGACAAATTTGCTTGTGCAGTTTCTGCTCTTTTGAGAGCCCCCTCTTCACTTCCAGGCACACCTAGGCCCAATTCACCCTTGAGAAAGTCTAGGTTTTTACCAAATACAAATATCACAGGTTTTGTCTCTTCTTTTTCTCCACTTTAGGAATCAGCTTAGCATAGTGAGCTTGTAGGAATCCGGATTTCTTTCCACCTCAAAAGCAAGAGTGGTGAAATCTGATACTTTGTTTTGTTTGTTTGTTTTTTTAATATAGGATGGCAAAAGCTGTGTTGAAAGATCTGGCCTGAGAGTAGCATGTGAGTTCCAGTCCTAGCTCTGTCACTAATCCTTTGAAGGAGTCATTTCTCCTCGCTGGGCCTCAGTTCCCTTATGTGTAAAGGGAAGGAACAGGACAAACTAGCACATAAGGTATTTTGCCAGAAGTAACATAGACCAGCCAGAAGTGCAAAGGGTAGACTGCTCAATTATTAGAACTAGAAAGGACCTTAGAAAGAGATTGCCTAGTATTAGTGTCCTCTGAGCATTTAGCATCACTATGACCTAAACTTATTTAGGGAAGAGCTGTTGTGGCCACAGAACTGATCTAACCCAAAGGCACAAGTAAATGGCTTACTTGTTAGTTATAACACTGGCAGGATAATTGAGAGCTGACAGCTAAAGTCACCTGCGCAGCACTGGGAGATACCTACATGGAATTATCCAAAATTCTTTTCAATTGAAAATGATCCTGGAAATGGATTAATGTAGAGATGGCCCTGTTTTATTTTGGTAGAAAGAAGGGCTACACCCCTCTTGATCTTAACCCTTCAACCTCAGCTCGTGGATCATTGTGTTTGTGAAACCTTTTCTTCTCAGATTCCAAACTATACCTCCATGAGCTCCTAGAAGGCAGTGAAATCTATCTCCCAGAGGTTGTGAAGCCTCCACGGGTATGTAAGGGATATGTTTGTGAGAGTGGTTATTGACTGAGTTGGGCTTATCCATGATACACTGAACTTATAAATCAACTTTTAGGCTTGAAAAATTGTTTTTGAAATCTTTGGGATCTGGGGGAGCCAGATATTGTCCTCCCCATCAGCTGTTTGGAAAATTGAGATCAAAAAAAAAAAAAACAGTTTCAAAGCACTGGAGTTACGACTAGTATGTGGGTCTCCTGATACCTTTAGCAGTGCTTTACCCCTGGAACCAATGATTGTGATGTGCTTTCTAACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAGCCCCTCAGAGTAGGGCCCTGCAGTGGAAGAAGATACAGAGTTTAGAAAAAACATGGAAACTTGGTTTCTATACTGTTCAGGGACCATAGGAAGTCTGCATACAAACAACACAGTTCCCATCTCATTCACTGAGACTCTGGGCTGAGATGGTGACCAAGTTTTAAACGTCATAGAAGTGGGAGTTAGCCGGGCACGGCGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTAGGTGGATCACTTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACATGGTGAAACCCCGTCTTTACAAAAAATACAAAACTTAGCCTGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTCGAGAGGCTGAGG 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TGCAGGCCTGTGACCTAATCTGACTTTTTTCAGAAGCAGAGCACTCTATGAAAATGAAAGATGACCCAGCCCAATACTCACCTGCCCGGTCTCATATTTTCCATTCTGTTTTGGCACCTCAAACACACCAACTGTCTCCAACACTTTGCCCTCTGGTCGGTTTCTGAGTAGGAAGGAAAAGAACAAGCAACAGAAAAGCTGAGAAGGTAATGGTAGTTATCCATAAGAAAAAGCTCCTAGGATACTGAGGGGCCAGGGCGATGACAGCAGAGAAGGGTTTGGGGTAGTGGGACCAGCTGGAGCAGGAAAGGCTTTCCTCCTCCTTGGTGAAAACCTCCACAGTCTCCCAGTGTTAGATGTGACCGCTCCCATACTACTGTCTTCTCTCTTCACTGGGCATTCTTCATATCATGCCCTCACACTCTGCTCAAATGTACCCCTGCCCTTGTTTCTTCCCTAACCCACCCTCCTGACCTCCCACAGCACTTTAACTGTCTTGCTCACTTTTTCAATTTTTTTAGAAGGGGAGTATCTTTTTTTCTTCTTTTCTTACATTTTCTATATCACAAGTCATCAAACAATATCCTGCTCCCTTTACATTTCAGTTGTGTCCATGTCTTATCTTTATTAAATACTGTAAATTCCCTGGGAGCAATGCCTGAGTCTGATTAGCTGGTACTGCCCCCTCAGAGCCTAGTGTACAAGAGGTGCTCAAAAAATATTTGTCCTGTATTATAATTCCATGTCCATCTCCCCCTCTAACCTGTAGCCCTTACATTGCCCTTGAAAAGCTTAAACATCTCTAGATTTCCTACGGCACATCGCTCTCTCAATACCGTTTTTGTTCATATTCTCACAGGGGTCTTAAATTGCAAATAGCTATCATCTCTCCCCAATGTTCAGTGTCTAATATCAGCCACTAAAATGTCAGTCACCACTCTGAACAGGGCTGCTCTTTCTAGGGGCCCTTCAAATAAAGGCTGTTTTTACTGTTTTGAAGATGTGAACTTTATGCTTCCTCCCACTGATCCACCAGCCCATTTGATCCGCCTGTCCCATCCGTGGAAACAGTTTCCACACCATCCCCATGGCCTCAAACCCCCTTCCCCAAGTCACAGATAGAAAATCGATCTCCCCAAAGTCACTTGGAAACCTGGGGCCTACGAGGGTCCACACCCAAGAGTCTCGTTTCCCACCTCTAGCATCTTTCTGAGGCAGACCTTCACCAAATCCAAAGGCTGAGGGTTCAAGCCAATGCCCTAGGGCTGAATTAAAAAGCTTCCCTCTGACATCGGTGCTGGGGACCCCAGCCGGGGAAGTAGGATTCACTTGGGGAGGGTAACCTGTTCCCCCCCAGGGCCAGCCCTGTACAACCAGGGCTCTGGGCCGCGCTGGCTTCCCTGCTCCTGGCACATGTCCCAGACAGCGCAGGTCGGCTCCCTGCTCGGGACCCTCTCCCGGGTCAAACTCCAGTCACCCTCAGCAGGCCCGGGCCCCTGGCCTCCGCACTGGCTAGGAACACGCTCTCTGGGCTCCAGGCCCAGTTCCTCGCGCCCCCTGGCTCCGTCCCTCACCGGGACGAGAGGTGCCTCCGCGTCGTCGTGGTCGACGCTGGCGAGAAGGCTCCAGCTCCGGCCGCCGCACAGAGCGGCCTTGGCCACCGGGCCCCAGTCAGCGACCGGGACCACCAGCGGCTGCCCACGGCCAGGGCCCGCCGGGCTGTACAGGCTGCCATGTCCCGCCCGAGCGCCCGCCCGGCTGCTGACACAGAGCCCGACCCGCGGCCGGGCGGCGTTCCGCCCCAGTCCCACACTGCCCCGCGCGGCGTCCCGGCCCTCTTGGCCCGCCTGGTCCCACCCCGGAGCTCAGAGCAACTTCCGGTGCGCTTAGCGTTACTTCCGGCGCGCGGCGGGCGGAAGTCCGGGTTGGGGTCACCTGACCGGAGAGCCGGCTAGATATGGCGTCCTCTTTGCTTGCGGGCGAGCGATTGGTGCGTGCTTTGGGCCCCGGCGGGGAGCTGGAGCCAGAGCGGCTACCCCGAAAGCTGCCGGCCGAGCTTGAGGCCGCGCTGGGGAAGAAGCACAAGGGCGGTGATAGCTCCAGTGGCCCCCAACGCTTGGTTTCTTTCCGTCTCATCCGGGATCTGCACCAGCATCTGAGAGAAAGGGGTGAGCCCCAGTCTCCAGTCCGGGGTCCCCTCCTTGTGTCCAGATCGATTCCCTCCTGAGGTCTTTTCCCATCATTCCCCTTCTTCTACGGAGCACTCATCTAGACAAGTCAAGAGTCACTCCATAAATCCCAGGGCCACCCACTTTCTTAACTCCCATGGGAATTTCTCGTGGATGACAAATTTGCTTGTGCAGTTTCTGCTCTTTTGAGAGCCCCCTCTTCACTTCCAGGCACACCTAGGCCCAATTCACCCTTGAGAAAGTCTAGGTTTTTACCAAATACAAATATCACAGGTTTTGTCTCTTCTTTTTCTCCACTTTAGGAATCAGCTTAGCATAGTGAGCTTGTAGGAATCCGGATTTCTTTCCACCTCAAAAGCAAGAGTGGTGAAATCTGATACTTTGTTTTGTTTGTTTGTTTTTTTAATATAGGATGGCAAAAGCTGTGTTGAAAGATCTGGCCTGAGAGTAGCATGTGAGTTCCAGTCCTAGCTCTGTCACTAATCCTTTGAAGGAGTCATTTCTCCTCGCTGGGCCTCAGTTCCCTTATGTGTAAAGGGAAGGAACAGGACAAACTAGCACATAAGGTATTTTGCCAGAAGTAACATAGACCAGCCAGAAGTGCAAAGGGTAGACTGCTCAATTATTAGAACTAGAAAGGACCTTAGAAAGAGATTGCCTAGTATTAGTGTCCTCTGAGCATTTAGCATCACTATGACCTAAACTTATTTAGGGAAGAGCTGTTGTGGCCACAGAACTGATCTAACCCAAAGGCACAAGTAAATGGCTTACTTGTTAGTTATAACACTGGCAGGATAATTGAGAGCTGACAGCTAAAGTCACCTGCGCAGCACTGGGAGATACCTACATGGAATTATCCAAAATTCTTTTCAATTGAAAATGATCCTGGAAATGGATTAATGTAGAGATGGCCCTGTTTTATTTTGGTAGAAAGAAGGGCTACACCCCTCTTGATCTTAACCCTTCAACCTCAGCTCGTGGATCATTGTGTTTGTGAAACCTTTTCTTCTCAGATTCCAAACTATACCTCCATGAGCTCCTAGAAGGCAGTGAAATCTATCTCCCAGAGGTTGTGAAGCCTCCACGGGTATGTAAGGGATATGTTTGTGAGAGTGGTTATTGACTGAGTTGGGCTTATCCATGATACACTGAACTTATAAATCAACTTTTAGGCTTGAAAAATTGTTTTTGAAATCTTTGGGATCTGGGGGAGCCAGATATTGTCCTCCCCATCAGCTGTTTGGAAAATTGAGATCAAAAAAAAAAAAAACAGTTTCAAAGCACTGGAGTTACGACTAGTATGTGGGTCTCCTGATACCTTTAGCAGTGCTTTACCCCTGGAACCAATGATTGTGATGTGCTTTCTAACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAGCCCCTCAGAGTAGGGCCCTGCAGTGGAAGAAGATACAGAGTTTAGAAAAAACATGGAAACTTGGTTTCTATACTGTTCAGGGACCATAGGAAGTCTGCATACAAACAACACAGTTCCCATCTCATTCACTGAGACTCTGGGCTGAGATGGTGACCAAGTTTTAAACGTCATAGAAGTGGGAGTTAGCCGGGCACGGCGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTAGGTGGATCACTTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACATGGTGAAACCCCGTCTTTACAAAAAATACAAAACTTAGCCTGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTCGAGAGGCTGAGG 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Task1_train_23883 | This variant lies on Chromosome 17 and affects the gene SLC46A1, SARM1 (solute carrier family 46 member 1| sterile alpha and TIR motif containing 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Congenital defect of folate absorption | GTCAGCGGGTCAAGCTAGCCTGTGGCCCAGCCACAACTAGCTGACAAAGCTTCCTGGCCTTCCCTTTAACACAGTTCTGCTGCCATAGTTCCATCTATAAAATGGGAATGGAGGGAAATAGGGGAACTGGGAGAGAGAACACAGCCTTGCCAAGCAGCAATGTTAGCCTGATCCTTCCTCCACCTAGCTCGCCATCTCGCCCTTGGAAAATGGCTCCTGGAGGATTAGGCAGCCATCTGCAAGGAGAGGGGCAACCTGGGACAAGACACCCAGAGGGTAAGGATTCCAGGAATGAAGCTGCCATTTCTGGTTGGGAGGAGAAGAGGAAACTTTTAAGAGAAAGGGCTCCATTATGAGCATGGGTTCAGGGCCCTGCATTACCCAATCAGAACAGCCGGGATGAGCAGGAGGCCAGCTCCCAGGAGGAAGGGGAACCCCTTCATAAAGTTCAGAGTGGCTGGGTAGAGTGAGTTGAAGATGCCGGAGGCCGTCAGCATGGCCAGGCTATTCACACAGGCCACAGCAGAAAAGAGAGCACCTGTGAAGAAATAAATACCATACTCTGGAGTCCGAAAGGGCCATATTCCAACTCTGGCACCACCACCTCACAGCTGTGTGACCGGGAGTAGTCACTTAACCTATGTCTCCCCTTCCTCACCAGTAAATCCTGCTACATCATGTACTGTGACAAGGATTCAGTAAGGTCATATGTGGACAGTAGCTGGCACAGAGGGGCTACTAAACAAATGGCTGCTATTAAATCCACATTAAAAGTACATGTGATCTGACAGAACCCAGCACATAAAAGAAAAAAAAAGTACATGTGATATTGTCTGATGAAAGCTTGATGGAAATGGCTTTTTTCTGGTTTATCCTCTTTGGAATCATCTCCTGTTTGGGATTAACTGCTGGTCTGATCAGTTCCAATATTCATAGCGGTGTCACCACTGAATAGCTTCTTATCCTTTGGGTTCCTGTTCCTCCTTCTGCTAAATAAGGATAATACCTATTTCCTAGATTGTGAGCAACATTAAGTTCACATGGAAATCACCCATCACTGGGCCTGGTCCCCTGGAAGTAGCTAGTTAGTAAGGGCTGTTCTTTTCTCCTGTTTCTCTTGACATCTCTGGGCACAGAGAAAGTGCTGGGAAAAAAAGTTTAGGTGAATGAATGAAGACACATGGATTCTGGGGACACCAGAACCCACAGTGGGCTCTGTATGGCACCAGAGTCTCTGTCATCATCAGATCCTCATTCCAGGACAGATGGAAAAAGATGAATGTTTCCAGACTGGGGCATAAAGACCCAGAGGCTGGAGAAGCTGTTCTTTATAGATATACCAGGAGAACCCACAGTTTACAAAATGTGCAACAACCCAACAGAAGTTGAGATTAAATTCTGTCACATCTAGAGGGGTCTGTGATGTCATCAAAAGCAAACCACCCACATCACAGATGAAGAAACAGGCCTGTGGCAGGGCTCGGACTAAAACCCAGATCCTGAGACCAGCTGCTTTTAAACACAGACGTAGGTTTGCATCCTAGCTCCACCATTTACTGAGTAACCTTGGGTGAGCCAATGTAACCCCCTGGGTCTCTGTTTCTTTATCTGTCAACTGTGGAAAATGAAACCCATGTCACAAGGTTGTTCACTTCTGGGCTTGTACACGCTGACCCCAGAGAAACAGGGAACTCTGGCATCACCACACCCATCTTACAGACGGAAAAGCTGAGGTCTGCAGAGAGTAAATCCTCTGCTCTGGTTATCTAGAAAGAACATAATTGTGCTCTGCTGACTGCAAATCCCAACTCTGCGGTTTGAAAATCCAAGGTGGCATGATCCTCTGCCCATTGTGGGCAATTTCACAGAAATGTGTTTGTTTTGGCCACTTACTTCTCCAGGGTGAGAGGGGGGAAGGCAAGCTGTTCCCCCAGCCATGGCTGCCCATCAGCCCGTTTCGGGCAGCACTGGACATGAGGAACCAGACACAGGTGGGTTCTGACACTCACCCTGCTCTGTCTCTCTCACCAGCTTGGAGAGTTTAGCCCGGATGACAGGTGTGATGACTAATGACAGGAAAAGCAACCCATATCCTGTGGAGAAACAAACACTCATCAGGAAAATGGGGCTGGGGAGAGGGGCGTCCAAGGGAAAGGCAGCAGAGCTCCTATCCATACCCCACGTGGGGCTTAGGTTAGACCCAGGAAGAACTTCCTTGATGGTGAGGGTGGGAAGACAGTAGTCAAGGAGGAATGGAGACTGCCCTTGTCTGGGCTTGGCCACCTGCTAGCTCTCATGAATGAATGCTAATTCCCATTGATTGCTTTCTTGTCTGAACCTCTTGTGGTCACAGCAGGCATCACCCACCCACTTGGCACTTAGTAGGGATATGGCAGGGCACAGAAAACAAGCATGGGCTTTGGAGTCAGCCCTGAGTTCAAAACCTGATGCCATTACATATTATCTGTGTGGCCTGGGGTACTTACCCTCTCTGATCCTGACTCCCTGTATGAGGAAGATAATAAGGCCTTCATCACAGGATGGTTCTGAGGCATAGGAGGCTGAATAATGGTGCCCAATGGCATCAGATTCATAGCCCTGGAACCTGTAAATACTACCTTATTTGGAAAATGAGTCTATGCAGGTGTGCAGTTAAGCCTCCTGAGAGAGCAGAGTTATCCTGGATTAGGTTGGGCCCTAAATGCCGTCACACATATCTTTATAAGAGGAAAGCAGACGGAGATTTGGCACCGACAGAATTGAGAAGGCACAAAGAGGAGGAGAGTCAATGTGAGCACAGAGGCAGAGACTGGTGATGGCCGCCCCAAGCCAAGGAATGCCAGCAGCCCCAGAAGCTGGAAGAAATGAGAAACACGTTCTCTCCTGGAGGCTTGCAAGGGAGCACTGCCTGCTGACTGCTTCCATTCAGCCCGGTGGTACTGACTTTGGACTTCTGGCCTCCAGAACTGTGAGAGAATATGTTTCTGTTGTGTTAAGCCCCCAAGTTTGTGGTATGTCATTACAGCAATCTCAGGGAACCAATACATGAGGTAAAAAGGTAACATCTATGAAGAGCATGGCATAGGGACACAGCAAATGGGAGTTCCTTTTCCCTTTGCATTCAGTTACTTACAGGCTTCCTGTTTTCTTCATAACCATTTCTCTCCCTGTGCGACTGCTGACTCCTCAGCAAAACTGCAAACTCCTACAGGACAGTGGATCCTCCAAAGAAGGTATACGATGAGGCATCCAGGGACCCTAGCAGTGTCAGGCCCCTCAAATCCCACTCTGTTGAGACCTCCCCCCGACCCAGAGCAATGACAGCATCTTTATCATCTCTGCATCCCCCAGGGCCATCAGCAGGAGGGAAAGGTTCCCTTCTGCTTAATTGTCAGACAAGCAGTTGAGTTAAGAAATCTGTGATTATTGTATTGTTGACTATACACAGCACATTTTAGGGCTCTATCAAAATAAATCTGTCCCTTTAAAAAAAGTTAACTAAAGCCGGGCACGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCGGATCCTTGAGCTCAGGAGTTAGAGACCTGGACTGGGCAAAATGGTGAGGACCCCATCTCTATAAAAAATACAAAAATTAGCAAGGTGTGGTAATGTGCACCAGTGGTCCCAGCTACTAGAGAGGCCAAGGTGGGAGGATCATCTGGGCCCGGGGGATGAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCTAGCCTGGGTAACAAAGCGAGACCCTGTCTCTAAATACATCAATCAAATAAAAATTTTAAAAAGTTAACTTCCTCATTTACTGGCCTGTTGACCCTCTCCCATCAAAAAAAGAAGGGGAGGAAGTGAGGAGGGAAAGGAGAAGGAGAAAGAGGAGAAGAGGAACTGAAGCAGGAATTTCATATCTGTGGTCCGAGAAGACTGGTTTTTAAAAAACCCAAAGAAGCTGACTAAGGGTATTTGAGGTAGGTCCTGTGATTCTTATCAGAGAAGTGAGTACCAGGCATTAATGGCATGGACTTTGTTTAAGAACATATGAATAGGCGGTGGGAGGCCAAGGGGTAA 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GTCAGCGGGTCAAGCTAGCCTGTGGCCCAGCCACAACTAGCTGACAAAGCTTCCTGGCCTTCCCTTTAACACAGTTCTGCTGCCATAGTTCCATCTATAAAATGGGAATGGAGGGAAATAGGGGAACTGGGAGAGAGAACACAGCCTTGCCAAGCAGCAATGTTAGCCTGATCCTTCCTCCACCTAGCTCGCCATCTCGCCCTTGGAAAATGGCTCCTGGAGGATTAGGCAGCCATCTGCAAGGAGAGGGGCAACCTGGGACAAGACACCCAGAGGGTAAGGATTCCAGGAATGAAGCTGCCATTTCTGGTTGGGAGGAGAAGAGGAAACTTTTAAGAGAAAGGGCTCCATTATGAGCATGGGTTCAGGGCCCTGCATTACCCAATCAGAACAGCCGGGATGAGCAGGAGGCCAGCTCCCAGGAGGAAGGGGAACCCCTTCATAAAGTTCAGAGTGGCTGGGTAGAGTGAGTTGAAGATGCCGGAGGCCGTCAGCATGGCCAGGCTATTCACACAGGCCACAGCAGAAAAGAGAGCACCTGTGAAGAAATAAATACCATACTCTGGAGTCCGAAAGGGCCATATTCCAACTCTGGCACCACCACCTCACAGCTGTGTGACCGGGAGTAGTCACTTAACCTATGTCTCCCCTTCCTCACCAGTAAATCCTGCTACATCATGTACTGTGACAAGGATTCAGTAAGGTCATATGTGGACAGTAGCTGGCACAGAGGGGCTACTAAACAAATGGCTGCTATTAAATCCACATTAAAAGTACATGTGATCTGACAGAACCCAGCACATAAAAGAAAAAAAAAGTACATGTGATATTGTCTGATGAAAGCTTGATGGAAATGGCTTTTTTCTGGTTTATCCTCTTTGGAATCATCTCCTGTTTGGGATTAACTGCTGGTCTGATCAGTTCCAATATTCATAGCGGTGTCACCACTGAATAGCTTCTTATCCTTTGGGTTCCTGTTCCTCCTTCTGCTAAATAAGGATAATACCTATTTCCTAGATTGTGAGCAACATTAAGTTCACATGGAAATCACCCATCACTGGGCCTGGTCCCCTGGAAGTAGCTAGTTAGTAAGGGCTGTTCTTTTCTCCTGTTTCTCTTGACATCTCTGGGCACAGAGAAAGTGCTGGGAAAAAAAGTTTAGGTGAATGAATGAAGACACATGGATTCTGGGGACACCAGAACCCACAGTGGGCTCTGTATGGCACCAGAGTCTCTGTCATCATCAGATCCTCATTCCAGGACAGATGGAAAAAGATGAATGTTTCCAGACTGGGGCATAAAGACCCAGAGGCTGGAGAAGCTGTTCTTTATAGATATACCAGGAGAACCCACAGTTTACAAAATGTGCAACAACCCAACAGAAGTTGAGATTAAATTCTGTCACATCTAGAGGGGTCTGTGATGTCATCAAAAGCAAACCACCCACATCACAGATGAAGAAACAGGCCTGTGGCAGGGCTCGGACTAAAACCCAGATCCTGAGACCAGCTGCTTTTAAACACAGACGTAGGTTTGCATCCTAGCTCCACCATTTACTGAGTAACCTTGGGTGAGCCAATGTAACCCCCTGGGTCTCTGTTTCTTTATCTGTCAACTGTGGAAAATGAAACCCATGTCACAAGGTTGTTCACTTCTGGGCTTGTACACGCTGACCCCAGAGAAACAGGGAACTCTGGCATCACCACACCCATCTTACAGACGGAAAAGCTGAGGTCTGCAGAGAGTAAATCCTCTGCTCTGGTTATCTAGAAAGAACATAATTGTGCTCTGCTGACTGCAAATCCCAACTCTGCGGTTTGAAAATCCAAGGTGGCATGATCCTCTGCCCATTGTGGGCAATTTCACAGAAATGTGTTTGTTTTGGCCACTTACTTCTCCAGGGTGAGAGGGGGGAAGGCAAGCTGTTCCCCCAGCCATGGCTGCCCATCAGCCCGTTTCGGGCAGCACTGGACATGAGGAACCAGACACAGGTGGGTTCTGACACTCACCCTGCTCTGTCTCTCTCACCAGCTTGGAGAGTTTAGCCCAGATGACAGGTGTGATGACTAATGACAGGAAAAGCAACCCATATCCTGTGGAGAAACAAACACTCATCAGGAAAATGGGGCTGGGGAGAGGGGCGTCCAAGGGAAAGGCAGCAGAGCTCCTATCCATACCCCACGTGGGGCTTAGGTTAGACCCAGGAAGAACTTCCTTGATGGTGAGGGTGGGAAGACAGTAGTCAAGGAGGAATGGAGACTGCCCTTGTCTGGGCTTGGCCACCTGCTAGCTCTCATGAATGAATGCTAATTCCCATTGATTGCTTTCTTGTCTGAACCTCTTGTGGTCACAGCAGGCATCACCCACCCACTTGGCACTTAGTAGGGATATGGCAGGGCACAGAAAACAAGCATGGGCTTTGGAGTCAGCCCTGAGTTCAAAACCTGATGCCATTACATATTATCTGTGTGGCCTGGGGTACTTACCCTCTCTGATCCTGACTCCCTGTATGAGGAAGATAATAAGGCCTTCATCACAGGATGGTTCTGAGGCATAGGAGGCTGAATAATGGTGCCCAATGGCATCAGATTCATAGCCCTGGAACCTGTAAATACTACCTTATTTGGAAAATGAGTCTATGCAGGTGTGCAGTTAAGCCTCCTGAGAGAGCAGAGTTATCCTGGATTAGGTTGGGCCCTAAATGCCGTCACACATATCTTTATAAGAGGAAAGCAGACGGAGATTTGGCACCGACAGAATTGAGAAGGCACAAAGAGGAGGAGAGTCAATGTGAGCACAGAGGCAGAGACTGGTGATGGCCGCCCCAAGCCAAGGAATGCCAGCAGCCCCAGAAGCTGGAAGAAATGAGAAACACGTTCTCTCCTGGAGGCTTGCAAGGGAGCACTGCCTGCTGACTGCTTCCATTCAGCCCGGTGGTACTGACTTTGGACTTCTGGCCTCCAGAACTGTGAGAGAATATGTTTCTGTTGTGTTAAGCCCCCAAGTTTGTGGTATGTCATTACAGCAATCTCAGGGAACCAATACATGAGGTAAAAAGGTAACATCTATGAAGAGCATGGCATAGGGACACAGCAAATGGGAGTTCCTTTTCCCTTTGCATTCAGTTACTTACAGGCTTCCTGTTTTCTTCATAACCATTTCTCTCCCTGTGCGACTGCTGACTCCTCAGCAAAACTGCAAACTCCTACAGGACAGTGGATCCTCCAAAGAAGGTATACGATGAGGCATCCAGGGACCCTAGCAGTGTCAGGCCCCTCAAATCCCACTCTGTTGAGACCTCCCCCCGACCCAGAGCAATGACAGCATCTTTATCATCTCTGCATCCCCCAGGGCCATCAGCAGGAGGGAAAGGTTCCCTTCTGCTTAATTGTCAGACAAGCAGTTGAGTTAAGAAATCTGTGATTATTGTATTGTTGACTATACACAGCACATTTTAGGGCTCTATCAAAATAAATCTGTCCCTTTAAAAAAAGTTAACTAAAGCCGGGCACGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCGGATCCTTGAGCTCAGGAGTTAGAGACCTGGACTGGGCAAAATGGTGAGGACCCCATCTCTATAAAAAATACAAAAATTAGCAAGGTGTGGTAATGTGCACCAGTGGTCCCAGCTACTAGAGAGGCCAAGGTGGGAGGATCATCTGGGCCCGGGGGATGAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCTAGCCTGGGTAACAAAGCGAGACCCTGTCTCTAAATACATCAATCAAATAAAAATTTTAAAAAGTTAACTTCCTCATTTACTGGCCTGTTGACCCTCTCCCATCAAAAAAAGAAGGGGAGGAAGTGAGGAGGGAAAGGAGAAGGAGAAAGAGGAGAAGAGGAACTGAAGCAGGAATTTCATATCTGTGGTCCGAGAAGACTGGTTTTTAAAAAACCCAAAGAAGCTGACTAAGGGTATTTGAGGTAGGTCCTGTGATTCTTATCAGAGAAGTGAGTACCAGGCATTAATGGCATGGACTTTGTTTAAGAACATATGAATAGGCGGTGGGAGGCCAAGGGGTAA 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Task1_train_23884 | A mutation in SLC46A1 (solute carrier family 46 member 1), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Congenital defect of folate absorption | AAGCATGGGCTTTGGAGTCAGCCCTGAGTTCAAAACCTGATGCCATTACATATTATCTGTGTGGCCTGGGGTACTTACCCTCTCTGATCCTGACTCCCTGTATGAGGAAGATAATAAGGCCTTCATCACAGGATGGTTCTGAGGCATAGGAGGCTGAATAATGGTGCCCAATGGCATCAGATTCATAGCCCTGGAACCTGTAAATACTACCTTATTTGGAAAATGAGTCTATGCAGGTGTGCAGTTAAGCCTCCTGAGAGAGCAGAGTTATCCTGGATTAGGTTGGGCCCTAAATGCCGTCACACATATCTTTATAAGAGGAAAGCAGACGGAGATTTGGCACCGACAGAATTGAGAAGGCACAAAGAGGAGGAGAGTCAATGTGAGCACAGAGGCAGAGACTGGTGATGGCCGCCCCAAGCCAAGGAATGCCAGCAGCCCCAGAAGCTGGAAGAAATGAGAAACACGTTCTCTCCTGGAGGCTTGCAAGGGAGCACTGCCTGCTGACTGCTTCCATTCAGCCCGGTGGTACTGACTTTGGACTTCTGGCCTCCAGAACTGTGAGAGAATATGTTTCTGTTGTGTTAAGCCCCCAAGTTTGTGGTATGTCATTACAGCAATCTCAGGGAACCAATACATGAGGTAAAAAGGTAACATCTATGAAGAGCATGGCATAGGGACACAGCAAATGGGAGTTCCTTTTCCCTTTGCATTCAGTTACTTACAGGCTTCCTGTTTTCTTCATAACCATTTCTCTCCCTGTGCGACTGCTGACTCCTCAGCAAAACTGCAAACTCCTACAGGACAGTGGATCCTCCAAAGAAGGTATACGATGAGGCATCCAGGGACCCTAGCAGTGTCAGGCCCCTCAAATCCCACTCTGTTGAGACCTCCCCCCGACCCAGAGCAATGACAGCATCTTTATCATCTCTGCATCCCCCAGGGCCATCAGCAGGAGGGAAAGGTTCCCTTCTGCTTAATTGTCAGACAAGCAGTTGAGTTAAGAAATCTGTGATTATTGTATTGTTGACTATACACAGCACATTTTAGGGCTCTATCAAAATAAATCTGTCCCTTTAAAAAAAGTTAACTAAAGCCGGGCACGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCGGATCCTTGAGCTCAGGAGTTAGAGACCTGGACTGGGCAAAATGGTGAGGACCCCATCTCTATAAAAAATACAAAAATTAGCAAGGTGTGGTAATGTGCACCAGTGGTCCCAGCTACTAGAGAGGCCAAGGTGGGAGGATCATCTGGGCCCGGGGGATGAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCTAGCCTGGGTAACAAAGCGAGACCCTGTCTCTAAATACATCAATCAAATAAAAATTTTAAAAAGTTAACTTCCTCATTTACTGGCCTGTTGACCCTCTCCCATCAAAAAAAGAAGGGGAGGAAGTGAGGAGGGAAAGGAGAAGGAGAAAGAGGAGAAGAGGAACTGAAGCAGGAATTTCATATCTGTGGTCCGAGAAGACTGGTTTTTAAAAAACCCAAAGAAGCTGACTAAGGGTATTTGAGGTAGGTCCTGTGATTCTTATCAGAGAAGTGAGTACCAGGCATTAATGGCATGGACTTTGTTTAAGAACATATGAATAGGCGGTGGGAGGCCAAGGGGTAAAGCAATTAGTGTATGAGCCACACTTTTGTCTTTTGCTCTATATTACTAACAATATTAATGGTTGATAACAGTGGGTTAATTACTTTAGCTACTGAAGGTCTATATTTTCCATGTATCAAAGATGGCATTTTTGAGGGATTTCTTAGTTGTCTGTTCTCCAGTGCAGGCTGGGGGCATAACTATGTTTCCAAAGACACAGGAATGAACCACATCTGGGGGCAGTGAGTGGCCGGCCCCCAGTTCTTACCCAGTGCCTCTGGGACAAGCTGTCCCTGAGCCCACACACTTTACCTGTGAACATGAGAGGCGTGATAGTGGCAAAGGCAAAGACCACCATCCCCAGGATGTTGAAGGCCAGGCCGATCTCAGCTACCCAGGCATCGGCCAGGCAGTACTGCAGGAGCTTCAGGGCCAGCAGGCTGGTGAGGTAGGGGAGATGCTGAGCTGCAGAACCATAGCCGATTAGTTTGGAGTCCCAGCAGAGGGGTGTGCTTAGTTCATAAAGGGTTAAGATGTCCTGGGCCCCAAAGTGCACAGTGATCACCACGAAGATGGCCAGTGAGTAGAGGGCTAAATGTTTCCTGGACTTCTCTGGGGCGGGAGCCACATAGAGCTGGACAATGGATCGGTGGTGACGGAACGTGAAGAGCCGGGTGGACTTTGGCTCCTTTAAGGTCTCACCAAAGCAGAAAGCTGCATAGAGAGTCATGGCTATCAGCAAGGCCAAGGCCAGCCAGAAGGGGTTGGCATAACCCTGGGCCCGGAGCCAGTGGCCCCCGAGGAGGCTTGCCAGCATCCCAGCCACCCCGATGCTGGCTTCCAGCAGGGCCATCCGGAAGGTGCGGCTGCGACTGGAGCTGACATCTGCCACGGACGCAAAGCTAGCAGCCAGAAGGCCACCGAAGTCGCCGAGGAGGGCACAAAGGATGCGACCCAGCACGAAGTAGCCGACGTGGAGCTGCAGCTGCACCACAAAAACGGACACTAGGGCCTGGAGCAGCAGGCCCAGCGAGGCCAGCACTAGCAGCGGGCGGCGGCCCACACTGTCGCTCCAAGCTCCCAGCAGGGTGGACGAGAAGAGCCCCACCAGGAAGCCGCCCACGTTCATGTAGAGGGTCCAGTGGGAGGTAAGGGTCTCCACTTCCTGTAGGGGCACAATGACCAGGGTGCGGTTCCTCACTCTGGGTTCCACAATCCCCAAATCCTCGCCATCCCGGGAGCTACAGGGATGAGGACTTCCTTTGGAGCCCTAAACCTCAGAGAATCTTAGCACAGCTTTCAAAATCTGCCAGTGGAGAGGGGGAAGGACATGGACCAAGGCCCCATTCCCTTTCCTTTCCCCCCCCTTTTGTTAACCTGCAAGGCCAGACTTTAGCTCAGCTTTTCGCATCCCACCCGCTGAGGTTCTCGGTCAGGCCCCTTTGCTCTGGTCCCGCCCACCATCCAAAATGCACCCTCCCTCCAGTTACCCGCCACTACCATTACGCAGGCCCCGCCCCTCCGCTGCCCCCACGCTCCAGACCAGGGCCCTCCACCTGCCAGGCTCCTCGCCGCCCCGCTACCTGCATGGTGGGGTCCGCGCTGCGGTTGCTGCAGCCCCCCCTTTGGCGGGTGCCATTGTAGCCGAGGTCGGCGCTGAAGCGGTGCCACAGATACTGCGTGGTGAGCGGGCCCTGCAGGACCAAGGCAAAGTTGGCCAGGAAGACCAGCGGCTCTACCGGGCCCCGGCACAGCACGGCAGCCGCAGGGCGGGCGCGGGGCTTTTCCGGGGGGCTCGCGCTCCCCTCCATGTGCGTGCGCGGCGGAGCTGTCGCCAGGCGGGCGGCGGGGCGCGCGAGCGACTCGCTGCCTGGGACCAGCGACGCGTGGCGTGGGGCTTGCGCTGTCTGCGCCTGCGCCCGGCGTCCCTCCTTAAATGTCCGGCGGGGAGGGGCCTGTGACCTGAGGCCACCGGACTCTCGCCGCGGGTGCACCTGGCTGGGCGTGGGCCAGCGAGGGGCCCGGCACCCCCAGCCCGCGGGATGACCTCACCTGTAAAGTGTGCGTAGACACCGCCCTGCAGCCCTCCCTCCCGGCCCAGACACACCACAGATAACAAGAATATCAACAATTAACATGTATTGACCACTTACTATGTGCTGGGCACGGTATTAAACCCTTTTTGTGCGTTGGTCTCCCGATAACTCTACAGGCTAGCCAATATTAACCATCGCTATCTACCGCTGAGGAAACGAGGTCATCGGGTACTCAAGGCAGAGCTGGAAGAGCACATGACTCCTGATGCTGCTGATGTTCTGCGCTGTAACAGAGAGGCAGCTGGAGAGGATCGGAGTGGGCTGAGCCCAGCTGCCTGGGTTGGAGCACCTAGGCTCTGCCACTACCTTCGGCATGCCACTTACCACCCTGAG 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AAGCATGGGCTTTGGAGTCAGCCCTGAGTTCAAAACCTGATGCCATTACATATTATCTGTGTGGCCTGGGGTACTTACCCTCTCTGATCCTGACTCCCTGTATGAGGAAGATAATAAGGCCTTCATCACAGGATGGTTCTGAGGCATAGGAGGCTGAATAATGGTGCCCAATGGCATCAGATTCATAGCCCTGGAACCTGTAAATACTACCTTATTTGGAAAATGAGTCTATGCAGGTGTGCAGTTAAGCCTCCTGAGAGAGCAGAGTTATCCTGGATTAGGTTGGGCCCTAAATGCCGTCACACATATCTTTATAAGAGGAAAGCAGACGGAGATTTGGCACCGACAGAATTGAGAAGGCACAAAGAGGAGGAGAGTCAATGTGAGCACAGAGGCAGAGACTGGTGATGGCCGCCCCAAGCCAAGGAATGCCAGCAGCCCCAGAAGCTGGAAGAAATGAGAAACACGTTCTCTCCTGGAGGCTTGCAAGGGAGCACTGCCTGCTGACTGCTTCCATTCAGCCCGGTGGTACTGACTTTGGACTTCTGGCCTCCAGAACTGTGAGAGAATATGTTTCTGTTGTGTTAAGCCCCCAAGTTTGTGGTATGTCATTACAGCAATCTCAGGGAACCAATACATGAGGTAAAAAGGTAACATCTATGAAGAGCATGGCATAGGGACACAGCAAATGGGAGTTCCTTTTCCCTTTGCATTCAGTTACTTACAGGCTTCCTGTTTTCTTCATAACCATTTCTCTCCCTGTGCGACTGCTGACTCCTCAGCAAAACTGCAAACTCCTACAGGACAGTGGATCCTCCAAAGAAGGTATACGATGAGGCATCCAGGGACCCTAGCAGTGTCAGGCCCCTCAAATCCCACTCTGTTGAGACCTCCCCCCGACCCAGAGCAATGACAGCATCTTTATCATCTCTGCATCCCCCAGGGCCATCAGCAGGAGGGAAAGGTTCCCTTCTGCTTAATTGTCAGACAAGCAGTTGAGTTAAGAAATCTGTGATTATTGTATTGTTGACTATACACAGCACATTTTAGGGCTCTATCAAAATAAATCTGTCCCTTTAAAAAAAGTTAACTAAAGCCGGGCACGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCGGATCCTTGAGCTCAGGAGTTAGAGACCTGGACTGGGCAAAATGGTGAGGACCCCATCTCTATAAAAAATACAAAAATTAGCAAGGTGTGGTAATGTGCACCAGTGGTCCCAGCTACTAGAGAGGCCAAGGTGGGAGGATCATCTGGGCCCGGGGGATGAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCTAGCCTGGGTAACAAAGCGAGACCCTGTCTCTAAATACATCAATCAAATAAAAATTTTAAAAAGTTAACTTCCTCATTTACTGGCCTGTTGACCCTCTCCCATCAAAAAAAGAAGGGGAGGAAGTGAGGAGGGAAAGGAGAAGGAGAAAGAGGAGAAGAGGAACTGAAGCAGGAATTTCATATCTGTGGTCCGAGAAGACTGGTTTTTAAAAAACCCAAAGAAGCTGACTAAGGGTATTTGAGGTAGGTCCTGTGATTCTTATCAGAGAAGTGAGTACCAGGCATTAATGGCATGGACTTTGTTTAAGAACATATGAATAGGCGGTGGGAGGCCAAGGGGTAAAGCAATTAGTGTATGAGCCACACTTTTGTCTTTTGCTCTATATTACTAACAATATTAATGGTTGATAACAGTGGGTTAATTACTTTAGCTACTGAAGGTCTATATTTTCCATGTATCAAAGATGGCATTTTTGAGGGATTTCTTAGTTGTCTGTTCTCCAGTGCAGGCTGGGGGCATAACTATGTTTCCAAAGACACAGGAATGAACCACATCTGGGGGCAGTGAGTGGCCGGCCCCCAGTTCTTACCCAGTGCCTCTGGGACAAGCTGTCCCTGAGCCCACACACTTTACCTGTGAACATGAGAGGCGTGATAGTGGCAAAGGCAAAGACCACCATCCCCAGGATGTTGAAGGCCAGGCGGATCTCAGCTACCCAGGCATCGGCCAGGCAGTACTGCAGGAGCTTCAGGGCCAGCAGGCTGGTGAGGTAGGGGAGATGCTGAGCTGCAGAACCATAGCCGATTAGTTTGGAGTCCCAGCAGAGGGGTGTGCTTAGTTCATAAAGGGTTAAGATGTCCTGGGCCCCAAAGTGCACAGTGATCACCACGAAGATGGCCAGTGAGTAGAGGGCTAAATGTTTCCTGGACTTCTCTGGGGCGGGAGCCACATAGAGCTGGACAATGGATCGGTGGTGACGGAACGTGAAGAGCCGGGTGGACTTTGGCTCCTTTAAGGTCTCACCAAAGCAGAAAGCTGCATAGAGAGTCATGGCTATCAGCAAGGCCAAGGCCAGCCAGAAGGGGTTGGCATAACCCTGGGCCCGGAGCCAGTGGCCCCCGAGGAGGCTTGCCAGCATCCCAGCCACCCCGATGCTGGCTTCCAGCAGGGCCATCCGGAAGGTGCGGCTGCGACTGGAGCTGACATCTGCCACGGACGCAAAGCTAGCAGCCAGAAGGCCACCGAAGTCGCCGAGGAGGGCACAAAGGATGCGACCCAGCACGAAGTAGCCGACGTGGAGCTGCAGCTGCACCACAAAAACGGACACTAGGGCCTGGAGCAGCAGGCCCAGCGAGGCCAGCACTAGCAGCGGGCGGCGGCCCACACTGTCGCTCCAAGCTCCCAGCAGGGTGGACGAGAAGAGCCCCACCAGGAAGCCGCCCACGTTCATGTAGAGGGTCCAGTGGGAGGTAAGGGTCTCCACTTCCTGTAGGGGCACAATGACCAGGGTGCGGTTCCTCACTCTGGGTTCCACAATCCCCAAATCCTCGCCATCCCGGGAGCTACAGGGATGAGGACTTCCTTTGGAGCCCTAAACCTCAGAGAATCTTAGCACAGCTTTCAAAATCTGCCAGTGGAGAGGGGGAAGGACATGGACCAAGGCCCCATTCCCTTTCCTTTCCCCCCCCTTTTGTTAACCTGCAAGGCCAGACTTTAGCTCAGCTTTTCGCATCCCACCCGCTGAGGTTCTCGGTCAGGCCCCTTTGCTCTGGTCCCGCCCACCATCCAAAATGCACCCTCCCTCCAGTTACCCGCCACTACCATTACGCAGGCCCCGCCCCTCCGCTGCCCCCACGCTCCAGACCAGGGCCCTCCACCTGCCAGGCTCCTCGCCGCCCCGCTACCTGCATGGTGGGGTCCGCGCTGCGGTTGCTGCAGCCCCCCCTTTGGCGGGTGCCATTGTAGCCGAGGTCGGCGCTGAAGCGGTGCCACAGATACTGCGTGGTGAGCGGGCCCTGCAGGACCAAGGCAAAGTTGGCCAGGAAGACCAGCGGCTCTACCGGGCCCCGGCACAGCACGGCAGCCGCAGGGCGGGCGCGGGGCTTTTCCGGGGGGCTCGCGCTCCCCTCCATGTGCGTGCGCGGCGGAGCTGTCGCCAGGCGGGCGGCGGGGCGCGCGAGCGACTCGCTGCCTGGGACCAGCGACGCGTGGCGTGGGGCTTGCGCTGTCTGCGCCTGCGCCCGGCGTCCCTCCTTAAATGTCCGGCGGGGAGGGGCCTGTGACCTGAGGCCACCGGACTCTCGCCGCGGGTGCACCTGGCTGGGCGTGGGCCAGCGAGGGGCCCGGCACCCCCAGCCCGCGGGATGACCTCACCTGTAAAGTGTGCGTAGACACCGCCCTGCAGCCCTCCCTCCCGGCCCAGACACACCACAGATAACAAGAATATCAACAATTAACATGTATTGACCACTTACTATGTGCTGGGCACGGTATTAAACCCTTTTTGTGCGTTGGTCTCCCGATAACTCTACAGGCTAGCCAATATTAACCATCGCTATCTACCGCTGAGGAAACGAGGTCATCGGGTACTCAAGGCAGAGCTGGAAGAGCACATGACTCCTGATGCTGCTGATGTTCTGCGCTGTAACAGAGAGGCAGCTGGAGAGGATCGGAGTGGGCTGAGCCCAGCTGCCTGGGTTGGAGCACCTAGGCTCTGCCACTACCTTCGGCATGCCACTTACCACCCTGAG 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Task1_train_23885 | This gene mutation involves SLC46A1 (solute carrier family 46 member 1) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Congenital defect of folate absorption | GTGTGGCCTGGGGTACTTACCCTCTCTGATCCTGACTCCCTGTATGAGGAAGATAATAAGGCCTTCATCACAGGATGGTTCTGAGGCATAGGAGGCTGAATAATGGTGCCCAATGGCATCAGATTCATAGCCCTGGAACCTGTAAATACTACCTTATTTGGAAAATGAGTCTATGCAGGTGTGCAGTTAAGCCTCCTGAGAGAGCAGAGTTATCCTGGATTAGGTTGGGCCCTAAATGCCGTCACACATATCTTTATAAGAGGAAAGCAGACGGAGATTTGGCACCGACAGAATTGAGAAGGCACAAAGAGGAGGAGAGTCAATGTGAGCACAGAGGCAGAGACTGGTGATGGCCGCCCCAAGCCAAGGAATGCCAGCAGCCCCAGAAGCTGGAAGAAATGAGAAACACGTTCTCTCCTGGAGGCTTGCAAGGGAGCACTGCCTGCTGACTGCTTCCATTCAGCCCGGTGGTACTGACTTTGGACTTCTGGCCTCCAGAACTGTGAGAGAATATGTTTCTGTTGTGTTAAGCCCCCAAGTTTGTGGTATGTCATTACAGCAATCTCAGGGAACCAATACATGAGGTAAAAAGGTAACATCTATGAAGAGCATGGCATAGGGACACAGCAAATGGGAGTTCCTTTTCCCTTTGCATTCAGTTACTTACAGGCTTCCTGTTTTCTTCATAACCATTTCTCTCCCTGTGCGACTGCTGACTCCTCAGCAAAACTGCAAACTCCTACAGGACAGTGGATCCTCCAAAGAAGGTATACGATGAGGCATCCAGGGACCCTAGCAGTGTCAGGCCCCTCAAATCCCACTCTGTTGAGACCTCCCCCCGACCCAGAGCAATGACAGCATCTTTATCATCTCTGCATCCCCCAGGGCCATCAGCAGGAGGGAAAGGTTCCCTTCTGCTTAATTGTCAGACAAGCAGTTGAGTTAAGAAATCTGTGATTATTGTATTGTTGACTATACACAGCACATTTTAGGGCTCTATCAAAATAAATCTGTCCCTTTAAAAAAAGTTAACTAAAGCCGGGCACGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCGGATCCTTGAGCTCAGGAGTTAGAGACCTGGACTGGGCAAAATGGTGAGGACCCCATCTCTATAAAAAATACAAAAATTAGCAAGGTGTGGTAATGTGCACCAGTGGTCCCAGCTACTAGAGAGGCCAAGGTGGGAGGATCATCTGGGCCCGGGGGATGAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCTAGCCTGGGTAACAAAGCGAGACCCTGTCTCTAAATACATCAATCAAATAAAAATTTTAAAAAGTTAACTTCCTCATTTACTGGCCTGTTGACCCTCTCCCATCAAAAAAAGAAGGGGAGGAAGTGAGGAGGGAAAGGAGAAGGAGAAAGAGGAGAAGAGGAACTGAAGCAGGAATTTCATATCTGTGGTCCGAGAAGACTGGTTTTTAAAAAACCCAAAGAAGCTGACTAAGGGTATTTGAGGTAGGTCCTGTGATTCTTATCAGAGAAGTGAGTACCAGGCATTAATGGCATGGACTTTGTTTAAGAACATATGAATAGGCGGTGGGAGGCCAAGGGGTAAAGCAATTAGTGTATGAGCCACACTTTTGTCTTTTGCTCTATATTACTAACAATATTAATGGTTGATAACAGTGGGTTAATTACTTTAGCTACTGAAGGTCTATATTTTCCATGTATCAAAGATGGCATTTTTGAGGGATTTCTTAGTTGTCTGTTCTCCAGTGCAGGCTGGGGGCATAACTATGTTTCCAAAGACACAGGAATGAACCACATCTGGGGGCAGTGAGTGGCCGGCCCCCAGTTCTTACCCAGTGCCTCTGGGACAAGCTGTCCCTGAGCCCACACACTTTACCTGTGAACATGAGAGGCGTGATAGTGGCAAAGGCAAAGACCACCATCCCCAGGATGTTGAAGGCCAGGCCGATCTCAGCTACCCAGGCATCGGCCAGGCAGTACTGCAGGAGCTTCAGGGCCAGCAGGCTGGTGAGGTAGGGGAGATGCTGAGCTGCAGAACCATAGCCGATTAGTTTGGAGTCCCAGCAGAGGGGTGTGCTTAGTTCATAAAGGGTTAAGATGTCCTGGGCCCCAAAGTGCACAGTGATCACCACGAAGATGGCCAGTGAGTAGAGGGCTAAATGTTTCCTGGACTTCTCTGGGGCGGGAGCCACATAGAGCTGGACAATGGATCGGTGGTGACGGAACGTGAAGAGCCGGGTGGACTTTGGCTCCTTTAAGGTCTCACCAAAGCAGAAAGCTGCATAGAGAGTCATGGCTATCAGCAAGGCCAAGGCCAGCCAGAAGGGGTTGGCATAACCCTGGGCCCGGAGCCAGTGGCCCCCGAGGAGGCTTGCCAGCATCCCAGCCACCCCGATGCTGGCTTCCAGCAGGGCCATCCGGAAGGTGCGGCTGCGACTGGAGCTGACATCTGCCACGGACGCAAAGCTAGCAGCCAGAAGGCCACCGAAGTCGCCGAGGAGGGCACAAAGGATGCGACCCAGCACGAAGTAGCCGACGTGGAGCTGCAGCTGCACCACAAAAACGGACACTAGGGCCTGGAGCAGCAGGCCCAGCGAGGCCAGCACTAGCAGCGGGCGGCGGCCCACACTGTCGCTCCAAGCTCCCAGCAGGGTGGACGAGAAGAGCCCCACCAGGAAGCCGCCCACGTTCATGTAGAGGGTCCAGTGGGAGGTAAGGGTCTCCACTTCCTGTAGGGGCACAATGACCAGGGTGCGGTTCCTCACTCTGGGTTCCACAATCCCCAAATCCTCGCCATCCCGGGAGCTACAGGGATGAGGACTTCCTTTGGAGCCCTAAACCTCAGAGAATCTTAGCACAGCTTTCAAAATCTGCCAGTGGAGAGGGGGAAGGACATGGACCAAGGCCCCATTCCCTTTCCTTTCCCCCCCCTTTTGTTAACCTGCAAGGCCAGACTTTAGCTCAGCTTTTCGCATCCCACCCGCTGAGGTTCTCGGTCAGGCCCCTTTGCTCTGGTCCCGCCCACCATCCAAAATGCACCCTCCCTCCAGTTACCCGCCACTACCATTACGCAGGCCCCGCCCCTCCGCTGCCCCCACGCTCCAGACCAGGGCCCTCCACCTGCCAGGCTCCTCGCCGCCCCGCTACCTGCATGGTGGGGTCCGCGCTGCGGTTGCTGCAGCCCCCCCTTTGGCGGGTGCCATTGTAGCCGAGGTCGGCGCTGAAGCGGTGCCACAGATACTGCGTGGTGAGCGGGCCCTGCAGGACCAAGGCAAAGTTGGCCAGGAAGACCAGCGGCTCTACCGGGCCCCGGCACAGCACGGCAGCCGCAGGGCGGGCGCGGGGCTTTTCCGGGGGGCTCGCGCTCCCCTCCATGTGCGTGCGCGGCGGAGCTGTCGCCAGGCGGGCGGCGGGGCGCGCGAGCGACTCGCTGCCTGGGACCAGCGACGCGTGGCGTGGGGCTTGCGCTGTCTGCGCCTGCGCCCGGCGTCCCTCCTTAAATGTCCGGCGGGGAGGGGCCTGTGACCTGAGGCCACCGGACTCTCGCCGCGGGTGCACCTGGCTGGGCGTGGGCCAGCGAGGGGCCCGGCACCCCCAGCCCGCGGGATGACCTCACCTGTAAAGTGTGCGTAGACACCGCCCTGCAGCCCTCCCTCCCGGCCCAGACACACCACAGATAACAAGAATATCAACAATTAACATGTATTGACCACTTACTATGTGCTGGGCACGGTATTAAACCCTTTTTGTGCGTTGGTCTCCCGATAACTCTACAGGCTAGCCAATATTAACCATCGCTATCTACCGCTGAGGAAACGAGGTCATCGGGTACTCAAGGCAGAGCTGGAAGAGCACATGACTCCTGATGCTGCTGATGTTCTGCGCTGTAACAGAGAGGCAGCTGGAGAGGATCGGAGTGGGCTGAGCCCAGCTGCCTGGGTTGGAGCACCTAGGCTCTGCCACTACCTTCGGCATGCCACTTACCACCCTGAGCCTCTGTTTTTTCATCTGTAAAATGGAGTTGCTAACAAAACATGTCTCAAAAAGTTGT 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GTGTGGCCTGGGGTACTTACCCTCTCTGATCCTGACTCCCTGTATGAGGAAGATAATAAGGCCTTCATCACAGGATGGTTCTGAGGCATAGGAGGCTGAATAATGGTGCCCAATGGCATCAGATTCATAGCCCTGGAACCTGTAAATACTACCTTATTTGGAAAATGAGTCTATGCAGGTGTGCAGTTAAGCCTCCTGAGAGAGCAGAGTTATCCTGGATTAGGTTGGGCCCTAAATGCCGTCACACATATCTTTATAAGAGGAAAGCAGACGGAGATTTGGCACCGACAGAATTGAGAAGGCACAAAGAGGAGGAGAGTCAATGTGAGCACAGAGGCAGAGACTGGTGATGGCCGCCCCAAGCCAAGGAATGCCAGCAGCCCCAGAAGCTGGAAGAAATGAGAAACACGTTCTCTCCTGGAGGCTTGCAAGGGAGCACTGCCTGCTGACTGCTTCCATTCAGCCCGGTGGTACTGACTTTGGACTTCTGGCCTCCAGAACTGTGAGAGAATATGTTTCTGTTGTGTTAAGCCCCCAAGTTTGTGGTATGTCATTACAGCAATCTCAGGGAACCAATACATGAGGTAAAAAGGTAACATCTATGAAGAGCATGGCATAGGGACACAGCAAATGGGAGTTCCTTTTCCCTTTGCATTCAGTTACTTACAGGCTTCCTGTTTTCTTCATAACCATTTCTCTCCCTGTGCGACTGCTGACTCCTCAGCAAAACTGCAAACTCCTACAGGACAGTGGATCCTCCAAAGAAGGTATACGATGAGGCATCCAGGGACCCTAGCAGTGTCAGGCCCCTCAAATCCCACTCTGTTGAGACCTCCCCCCGACCCAGAGCAATGACAGCATCTTTATCATCTCTGCATCCCCCAGGGCCATCAGCAGGAGGGAAAGGTTCCCTTCTGCTTAATTGTCAGACAAGCAGTTGAGTTAAGAAATCTGTGATTATTGTATTGTTGACTATACACAGCACATTTTAGGGCTCTATCAAAATAAATCTGTCCCTTTAAAAAAAGTTAACTAAAGCCGGGCACGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCGGATCCTTGAGCTCAGGAGTTAGAGACCTGGACTGGGCAAAATGGTGAGGACCCCATCTCTATAAAAAATACAAAAATTAGCAAGGTGTGGTAATGTGCACCAGTGGTCCCAGCTACTAGAGAGGCCAAGGTGGGAGGATCATCTGGGCCCGGGGGATGAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCTAGCCTGGGTAACAAAGCGAGACCCTGTCTCTAAATACATCAATCAAATAAAAATTTTAAAAAGTTAACTTCCTCATTTACTGGCCTGTTGACCCTCTCCCATCAAAAAAAGAAGGGGAGGAAGTGAGGAGGGAAAGGAGAAGGAGAAAGAGGAGAAGAGGAACTGAAGCAGGAATTTCATATCTGTGGTCCGAGAAGACTGGTTTTTAAAAAACCCAAAGAAGCTGACTAAGGGTATTTGAGGTAGGTCCTGTGATTCTTATCAGAGAAGTGAGTACCAGGCATTAATGGCATGGACTTTGTTTAAGAACATATGAATAGGCGGTGGGAGGCCAAGGGGTAAAGCAATTAGTGTATGAGCCACACTTTTGTCTTTTGCTCTATATTACTAACAATATTAATGGTTGATAACAGTGGGTTAATTACTTTAGCTACTGAAGGTCTATATTTTCCATGTATCAAAGATGGCATTTTTGAGGGATTTCTTAGTTGTCTGTTCTCCAGTGCAGGCTGGGGGCATAACTATGTTTCCAAAGACACAGGAATGAACCACATCTGGGGGCAGTGAGTGGCCGGCCCCCAGTTCTTACCCAGTGCCTCTGGGACAAGCTGTCCCTGAGCCCACACACTTTACCTGTGAACATGAGAGGCGTGATAGTGGCAAAGGCAAAGACCACCATCCCCAGGATGTTGAAGGCCAGGCCGATCTCAGCTACCCAGGCATCGGCCAGGCAGTACTGCAGGAGCTTCAGGGCCAGCAGCCTGGTGAGGTAGGGGAGATGCTGAGCTGCAGAACCATAGCCGATTAGTTTGGAGTCCCAGCAGAGGGGTGTGCTTAGTTCATAAAGGGTTAAGATGTCCTGGGCCCCAAAGTGCACAGTGATCACCACGAAGATGGCCAGTGAGTAGAGGGCTAAATGTTTCCTGGACTTCTCTGGGGCGGGAGCCACATAGAGCTGGACAATGGATCGGTGGTGACGGAACGTGAAGAGCCGGGTGGACTTTGGCTCCTTTAAGGTCTCACCAAAGCAGAAAGCTGCATAGAGAGTCATGGCTATCAGCAAGGCCAAGGCCAGCCAGAAGGGGTTGGCATAACCCTGGGCCCGGAGCCAGTGGCCCCCGAGGAGGCTTGCCAGCATCCCAGCCACCCCGATGCTGGCTTCCAGCAGGGCCATCCGGAAGGTGCGGCTGCGACTGGAGCTGACATCTGCCACGGACGCAAAGCTAGCAGCCAGAAGGCCACCGAAGTCGCCGAGGAGGGCACAAAGGATGCGACCCAGCACGAAGTAGCCGACGTGGAGCTGCAGCTGCACCACAAAAACGGACACTAGGGCCTGGAGCAGCAGGCCCAGCGAGGCCAGCACTAGCAGCGGGCGGCGGCCCACACTGTCGCTCCAAGCTCCCAGCAGGGTGGACGAGAAGAGCCCCACCAGGAAGCCGCCCACGTTCATGTAGAGGGTCCAGTGGGAGGTAAGGGTCTCCACTTCCTGTAGGGGCACAATGACCAGGGTGCGGTTCCTCACTCTGGGTTCCACAATCCCCAAATCCTCGCCATCCCGGGAGCTACAGGGATGAGGACTTCCTTTGGAGCCCTAAACCTCAGAGAATCTTAGCACAGCTTTCAAAATCTGCCAGTGGAGAGGGGGAAGGACATGGACCAAGGCCCCATTCCCTTTCCTTTCCCCCCCCTTTTGTTAACCTGCAAGGCCAGACTTTAGCTCAGCTTTTCGCATCCCACCCGCTGAGGTTCTCGGTCAGGCCCCTTTGCTCTGGTCCCGCCCACCATCCAAAATGCACCCTCCCTCCAGTTACCCGCCACTACCATTACGCAGGCCCCGCCCCTCCGCTGCCCCCACGCTCCAGACCAGGGCCCTCCACCTGCCAGGCTCCTCGCCGCCCCGCTACCTGCATGGTGGGGTCCGCGCTGCGGTTGCTGCAGCCCCCCCTTTGGCGGGTGCCATTGTAGCCGAGGTCGGCGCTGAAGCGGTGCCACAGATACTGCGTGGTGAGCGGGCCCTGCAGGACCAAGGCAAAGTTGGCCAGGAAGACCAGCGGCTCTACCGGGCCCCGGCACAGCACGGCAGCCGCAGGGCGGGCGCGGGGCTTTTCCGGGGGGCTCGCGCTCCCCTCCATGTGCGTGCGCGGCGGAGCTGTCGCCAGGCGGGCGGCGGGGCGCGCGAGCGACTCGCTGCCTGGGACCAGCGACGCGTGGCGTGGGGCTTGCGCTGTCTGCGCCTGCGCCCGGCGTCCCTCCTTAAATGTCCGGCGGGGAGGGGCCTGTGACCTGAGGCCACCGGACTCTCGCCGCGGGTGCACCTGGCTGGGCGTGGGCCAGCGAGGGGCCCGGCACCCCCAGCCCGCGGGATGACCTCACCTGTAAAGTGTGCGTAGACACCGCCCTGCAGCCCTCCCTCCCGGCCCAGACACACCACAGATAACAAGAATATCAACAATTAACATGTATTGACCACTTACTATGTGCTGGGCACGGTATTAAACCCTTTTTGTGCGTTGGTCTCCCGATAACTCTACAGGCTAGCCAATATTAACCATCGCTATCTACCGCTGAGGAAACGAGGTCATCGGGTACTCAAGGCAGAGCTGGAAGAGCACATGACTCCTGATGCTGCTGATGTTCTGCGCTGTAACAGAGAGGCAGCTGGAGAGGATCGGAGTGGGCTGAGCCCAGCTGCCTGGGTTGGAGCACCTAGGCTCTGCCACTACCTTCGGCATGCCACTTACCACCCTGAGCCTCTGTTTTTTCATCTGTAAAATGGAGTTGCTAACAAAACATGTCTCAAAAAGTTGT 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Task1_train_23886 | Mutation context: Chromosome 17, Gene SLC46A1 (solute carrier family 46 member 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Congenital defect of folate absorption | AGGGACACAGCAAATGGGAGTTCCTTTTCCCTTTGCATTCAGTTACTTACAGGCTTCCTGTTTTCTTCATAACCATTTCTCTCCCTGTGCGACTGCTGACTCCTCAGCAAAACTGCAAACTCCTACAGGACAGTGGATCCTCCAAAGAAGGTATACGATGAGGCATCCAGGGACCCTAGCAGTGTCAGGCCCCTCAAATCCCACTCTGTTGAGACCTCCCCCCGACCCAGAGCAATGACAGCATCTTTATCATCTCTGCATCCCCCAGGGCCATCAGCAGGAGGGAAAGGTTCCCTTCTGCTTAATTGTCAGACAAGCAGTTGAGTTAAGAAATCTGTGATTATTGTATTGTTGACTATACACAGCACATTTTAGGGCTCTATCAAAATAAATCTGTCCCTTTAAAAAAAGTTAACTAAAGCCGGGCACGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCGGATCCTTGAGCTCAGGAGTTAGAGACCTGGACTGGGCAAAATGGTGAGGACCCCATCTCTATAAAAAATACAAAAATTAGCAAGGTGTGGTAATGTGCACCAGTGGTCCCAGCTACTAGAGAGGCCAAGGTGGGAGGATCATCTGGGCCCGGGGGATGAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCTAGCCTGGGTAACAAAGCGAGACCCTGTCTCTAAATACATCAATCAAATAAAAATTTTAAAAAGTTAACTTCCTCATTTACTGGCCTGTTGACCCTCTCCCATCAAAAAAAGAAGGGGAGGAAGTGAGGAGGGAAAGGAGAAGGAGAAAGAGGAGAAGAGGAACTGAAGCAGGAATTTCATATCTGTGGTCCGAGAAGACTGGTTTTTAAAAAACCCAAAGAAGCTGACTAAGGGTATTTGAGGTAGGTCCTGTGATTCTTATCAGAGAAGTGAGTACCAGGCATTAATGGCATGGACTTTGTTTAAGAACATATGAATAGGCGGTGGGAGGCCAAGGGGTAAAGCAATTAGTGTATGAGCCACACTTTTGTCTTTTGCTCTATATTACTAACAATATTAATGGTTGATAACAGTGGGTTAATTACTTTAGCTACTGAAGGTCTATATTTTCCATGTATCAAAGATGGCATTTTTGAGGGATTTCTTAGTTGTCTGTTCTCCAGTGCAGGCTGGGGGCATAACTATGTTTCCAAAGACACAGGAATGAACCACATCTGGGGGCAGTGAGTGGCCGGCCCCCAGTTCTTACCCAGTGCCTCTGGGACAAGCTGTCCCTGAGCCCACACACTTTACCTGTGAACATGAGAGGCGTGATAGTGGCAAAGGCAAAGACCACCATCCCCAGGATGTTGAAGGCCAGGCCGATCTCAGCTACCCAGGCATCGGCCAGGCAGTACTGCAGGAGCTTCAGGGCCAGCAGGCTGGTGAGGTAGGGGAGATGCTGAGCTGCAGAACCATAGCCGATTAGTTTGGAGTCCCAGCAGAGGGGTGTGCTTAGTTCATAAAGGGTTAAGATGTCCTGGGCCCCAAAGTGCACAGTGATCACCACGAAGATGGCCAGTGAGTAGAGGGCTAAATGTTTCCTGGACTTCTCTGGGGCGGGAGCCACATAGAGCTGGACAATGGATCGGTGGTGACGGAACGTGAAGAGCCGGGTGGACTTTGGCTCCTTTAAGGTCTCACCAAAGCAGAAAGCTGCATAGAGAGTCATGGCTATCAGCAAGGCCAAGGCCAGCCAGAAGGGGTTGGCATAACCCTGGGCCCGGAGCCAGTGGCCCCCGAGGAGGCTTGCCAGCATCCCAGCCACCCCGATGCTGGCTTCCAGCAGGGCCATCCGGAAGGTGCGGCTGCGACTGGAGCTGACATCTGCCACGGACGCAAAGCTAGCAGCCAGAAGGCCACCGAAGTCGCCGAGGAGGGCACAAAGGATGCGACCCAGCACGAAGTAGCCGACGTGGAGCTGCAGCTGCACCACAAAAACGGACACTAGGGCCTGGAGCAGCAGGCCCAGCGAGGCCAGCACTAGCAGCGGGCGGCGGCCCACACTGTCGCTCCAAGCTCCCAGCAGGGTGGACGAGAAGAGCCCCACCAGGAAGCCGCCCACGTTCATGTAGAGGGTCCAGTGGGAGGTAAGGGTCTCCACTTCCTGTAGGGGCACAATGACCAGGGTGCGGTTCCTCACTCTGGGTTCCACAATCCCCAAATCCTCGCCATCCCGGGAGCTACAGGGATGAGGACTTCCTTTGGAGCCCTAAACCTCAGAGAATCTTAGCACAGCTTTCAAAATCTGCCAGTGGAGAGGGGGAAGGACATGGACCAAGGCCCCATTCCCTTTCCTTTCCCCCCCCTTTTGTTAACCTGCAAGGCCAGACTTTAGCTCAGCTTTTCGCATCCCACCCGCTGAGGTTCTCGGTCAGGCCCCTTTGCTCTGGTCCCGCCCACCATCCAAAATGCACCCTCCCTCCAGTTACCCGCCACTACCATTACGCAGGCCCCGCCCCTCCGCTGCCCCCACGCTCCAGACCAGGGCCCTCCACCTGCCAGGCTCCTCGCCGCCCCGCTACCTGCATGGTGGGGTCCGCGCTGCGGTTGCTGCAGCCCCCCCTTTGGCGGGTGCCATTGTAGCCGAGGTCGGCGCTGAAGCGGTGCCACAGATACTGCGTGGTGAGCGGGCCCTGCAGGACCAAGGCAAAGTTGGCCAGGAAGACCAGCGGCTCTACCGGGCCCCGGCACAGCACGGCAGCCGCAGGGCGGGCGCGGGGCTTTTCCGGGGGGCTCGCGCTCCCCTCCATGTGCGTGCGCGGCGGAGCTGTCGCCAGGCGGGCGGCGGGGCGCGCGAGCGACTCGCTGCCTGGGACCAGCGACGCGTGGCGTGGGGCTTGCGCTGTCTGCGCCTGCGCCCGGCGTCCCTCCTTAAATGTCCGGCGGGGAGGGGCCTGTGACCTGAGGCCACCGGACTCTCGCCGCGGGTGCACCTGGCTGGGCGTGGGCCAGCGAGGGGCCCGGCACCCCCAGCCCGCGGGATGACCTCACCTGTAAAGTGTGCGTAGACACCGCCCTGCAGCCCTCCCTCCCGGCCCAGACACACCACAGATAACAAGAATATCAACAATTAACATGTATTGACCACTTACTATGTGCTGGGCACGGTATTAAACCCTTTTTGTGCGTTGGTCTCCCGATAACTCTACAGGCTAGCCAATATTAACCATCGCTATCTACCGCTGAGGAAACGAGGTCATCGGGTACTCAAGGCAGAGCTGGAAGAGCACATGACTCCTGATGCTGCTGATGTTCTGCGCTGTAACAGAGAGGCAGCTGGAGAGGATCGGAGTGGGCTGAGCCCAGCTGCCTGGGTTGGAGCACCTAGGCTCTGCCACTACCTTCGGCATGCCACTTACCACCCTGAGCCTCTGTTTTTTCATCTGTAAAATGGAGTTGCTAACAAAACATGTCTCAAAAAGTTGTGGAAAAGCAGTGTCTGGTATATTCAAAGTGCTATTATTGCTATTAACAGGCTGTCACGTCTGGGAGTGGTGGCTCACACCTGTAATCCCAGCACTTTTGGAGGCTGAGGCGCATGGATCGCTTGAACCCAGGAGTTCGAGACCAATCTGGGCAACATGGTAAAACCCTGTCTCTACAAAAAATACACAAAAATTAGCCAGGCGTAGTAGCAGATACCTGTAGTCCCAGGTACTCGGGTGGCTGAGGTGGGAGGATCAATTGAGCCCAGGAGGCAGAGGTTGCAGTGGGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAAAAAATATAAAATAAAAATAAAATAAAAAACAAGCTGTCACTTGCTCCACTCCTGCCCTAGGATCTTTTCCTGGGAAACTAGTCTTGTTTCTGGGGTCAGGCAGGGCCTGGCTCTGCAGTTCCCTTAGAGAAGATGGGGGAGGGCCTGGGAGGTCCTTGGGTGTGAACCTATGCTCCTGGGTGGCTCCCATTATAGGAATTAGGCCAGAAGGCAGTCACCTGCTCTGCTGCTGAGGAGGTCAGACCCTGTCTGGGCCTCTGTTTTATTGCCTGTA 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AGGGACACAGCAAATGGGAGTTCCTTTTCCCTTTGCATTCAGTTACTTACAGGCTTCCTGTTTTCTTCATAACCATTTCTCTCCCTGTGCGACTGCTGACTCCTCAGCAAAACTGCAAACTCCTACAGGACAGTGGATCCTCCAAAGAAGGTATACGATGAGGCATCCAGGGACCCTAGCAGTGTCAGGCCCCTCAAATCCCACTCTGTTGAGACCTCCCCCCGACCCAGAGCAATGACAGCATCTTTATCATCTCTGCATCCCCCAGGGCCATCAGCAGGAGGGAAAGGTTCCCTTCTGCTTAATTGTCAGACAAGCAGTTGAGTTAAGAAATCTGTGATTATTGTATTGTTGACTATACACAGCACATTTTAGGGCTCTATCAAAATAAATCTGTCCCTTTAAAAAAAGTTAACTAAAGCCGGGCACGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCGGATCCTTGAGCTCAGGAGTTAGAGACCTGGACTGGGCAAAATGGTGAGGACCCCATCTCTATAAAAAATACAAAAATTAGCAAGGTGTGGTAATGTGCACCAGTGGTCCCAGCTACTAGAGAGGCCAAGGTGGGAGGATCATCTGGGCCCGGGGGATGAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCTAGCCTGGGTAACAAAGCGAGACCCTGTCTCTAAATACATCAATCAAATAAAAATTTTAAAAAGTTAACTTCCTCATTTACTGGCCTGTTGACCCTCTCCCATCAAAAAAAGAAGGGGAGGAAGTGAGGAGGGAAAGGAGAAGGAGAAAGAGGAGAAGAGGAACTGAAGCAGGAATTTCATATCTGTGGTCCGAGAAGACTGGTTTTTAAAAAACCCAAAGAAGCTGACTAAGGGTATTTGAGGTAGGTCCTGTGATTCTTATCAGAGAAGTGAGTACCAGGCATTAATGGCATGGACTTTGTTTAAGAACATATGAATAGGCGGTGGGAGGCCAAGGGGTAAAGCAATTAGTGTATGAGCCACACTTTTGTCTTTTGCTCTATATTACTAACAATATTAATGGTTGATAACAGTGGGTTAATTACTTTAGCTACTGAAGGTCTATATTTTCCATGTATCAAAGATGGCATTTTTGAGGGATTTCTTAGTTGTCTGTTCTCCAGTGCAGGCTGGGGGCATAACTATGTTTCCAAAGACACAGGAATGAACCACATCTGGGGGCAGTGAGTGGCCGGCCCCCAGTTCTTACCCAGTGCCTCTGGGACAAGCTGTCCCTGAGCCCACACACTTTACCTGTGAACATGAGAGGCGTGATAGTGGCAAAGGCAAAGACCACCATCCCCAGGATGTTGAAGGCCAGGCCGATCTCAGCTACCCAGGCATCGGCCAGGCAGTACTGCAGGAGCTTCAGGGCCAGCAGGCTGGTGAGGTAGGGGAGATGCTGAGCTGCAGAACCATAGCCGATTAGTTTGGAGTCCCAGCAGAGGGGTGTGCTTAGTTCATAAAGGGTTAAGATGTCCTGGGCCCCAAAGTGCACAGTGATCACCACGAAGATGGCCAGTGAGTAGAGGGCTAAATGTTTCCTGGACTTCTCTGGGGCGGGAGCCACATAGAGCTGGACAATGGATCGGTGGTGACGGAACGTGAAGAGCCGGGTGGACTTTGGCTCCTTTAAGGTCTCACCAAAGCAGAAAGCTGCATAGAGAGTCATGGCTATCAGCAAGGCCAAGGCCAGCCAGAAGGGGTTGGCATAACCCTGGGCCCGGAGCCAGTGGCCCCCGAGGAGGCTTGCCAGCATCCCAGCCACCCCGATGCTGGCTTCCAGCAGGGCCATCCGGAAGGTGCGGCTGCGACTGGAGCTGACATCTGCCACGGACGCAAAGCTAGCAGCCAGAAGGCCACCGAAGTCGCCGAGGAGGGCACAAAGGATGCGACCCAGCACGAAGTAGCCGACGTGGAGCTGCAGCTGCACCACAAAAACGGACACTAGGGCCTGGAGCAGCAGGCCCAGCGAGGCCAGCACTAGCAGCGGGCGGCAGCCCACACTGTCGCTCCAAGCTCCCAGCAGGGTGGACGAGAAGAGCCCCACCAGGAAGCCGCCCACGTTCATGTAGAGGGTCCAGTGGGAGGTAAGGGTCTCCACTTCCTGTAGGGGCACAATGACCAGGGTGCGGTTCCTCACTCTGGGTTCCACAATCCCCAAATCCTCGCCATCCCGGGAGCTACAGGGATGAGGACTTCCTTTGGAGCCCTAAACCTCAGAGAATCTTAGCACAGCTTTCAAAATCTGCCAGTGGAGAGGGGGAAGGACATGGACCAAGGCCCCATTCCCTTTCCTTTCCCCCCCCTTTTGTTAACCTGCAAGGCCAGACTTTAGCTCAGCTTTTCGCATCCCACCCGCTGAGGTTCTCGGTCAGGCCCCTTTGCTCTGGTCCCGCCCACCATCCAAAATGCACCCTCCCTCCAGTTACCCGCCACTACCATTACGCAGGCCCCGCCCCTCCGCTGCCCCCACGCTCCAGACCAGGGCCCTCCACCTGCCAGGCTCCTCGCCGCCCCGCTACCTGCATGGTGGGGTCCGCGCTGCGGTTGCTGCAGCCCCCCCTTTGGCGGGTGCCATTGTAGCCGAGGTCGGCGCTGAAGCGGTGCCACAGATACTGCGTGGTGAGCGGGCCCTGCAGGACCAAGGCAAAGTTGGCCAGGAAGACCAGCGGCTCTACCGGGCCCCGGCACAGCACGGCAGCCGCAGGGCGGGCGCGGGGCTTTTCCGGGGGGCTCGCGCTCCCCTCCATGTGCGTGCGCGGCGGAGCTGTCGCCAGGCGGGCGGCGGGGCGCGCGAGCGACTCGCTGCCTGGGACCAGCGACGCGTGGCGTGGGGCTTGCGCTGTCTGCGCCTGCGCCCGGCGTCCCTCCTTAAATGTCCGGCGGGGAGGGGCCTGTGACCTGAGGCCACCGGACTCTCGCCGCGGGTGCACCTGGCTGGGCGTGGGCCAGCGAGGGGCCCGGCACCCCCAGCCCGCGGGATGACCTCACCTGTAAAGTGTGCGTAGACACCGCCCTGCAGCCCTCCCTCCCGGCCCAGACACACCACAGATAACAAGAATATCAACAATTAACATGTATTGACCACTTACTATGTGCTGGGCACGGTATTAAACCCTTTTTGTGCGTTGGTCTCCCGATAACTCTACAGGCTAGCCAATATTAACCATCGCTATCTACCGCTGAGGAAACGAGGTCATCGGGTACTCAAGGCAGAGCTGGAAGAGCACATGACTCCTGATGCTGCTGATGTTCTGCGCTGTAACAGAGAGGCAGCTGGAGAGGATCGGAGTGGGCTGAGCCCAGCTGCCTGGGTTGGAGCACCTAGGCTCTGCCACTACCTTCGGCATGCCACTTACCACCCTGAGCCTCTGTTTTTTCATCTGTAAAATGGAGTTGCTAACAAAACATGTCTCAAAAAGTTGTGGAAAAGCAGTGTCTGGTATATTCAAAGTGCTATTATTGCTATTAACAGGCTGTCACGTCTGGGAGTGGTGGCTCACACCTGTAATCCCAGCACTTTTGGAGGCTGAGGCGCATGGATCGCTTGAACCCAGGAGTTCGAGACCAATCTGGGCAACATGGTAAAACCCTGTCTCTACAAAAAATACACAAAAATTAGCCAGGCGTAGTAGCAGATACCTGTAGTCCCAGGTACTCGGGTGGCTGAGGTGGGAGGATCAATTGAGCCCAGGAGGCAGAGGTTGCAGTGGGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAAAAAATATAAAATAAAAATAAAATAAAAAACAAGCTGTCACTTGCTCCACTCCTGCCCTAGGATCTTTTCCTGGGAAACTAGTCTTGTTTCTGGGGTCAGGCAGGGCCTGGCTCTGCAGTTCCCTTAGAGAAGATGGGGGAGGGCCTGGGAGGTCCTTGGGTGTGAACCTATGCTCCTGGGTGGCTCCCATTATAGGAATTAGGCCAGAAGGCAGTCACCTGCTCTGCTGCTGAGGAGGTCAGACCCTGTCTGGGCCTCTGTTTTATTGCCTGTA 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Task1_train_23887 | A variant on Chromosome 17 in gene SLC46A1 (solute carrier family 46 member 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Congenital defect of folate absorption | AGGGACACAGCAAATGGGAGTTCCTTTTCCCTTTGCATTCAGTTACTTACAGGCTTCCTGTTTTCTTCATAACCATTTCTCTCCCTGTGCGACTGCTGACTCCTCAGCAAAACTGCAAACTCCTACAGGACAGTGGATCCTCCAAAGAAGGTATACGATGAGGCATCCAGGGACCCTAGCAGTGTCAGGCCCCTCAAATCCCACTCTGTTGAGACCTCCCCCCGACCCAGAGCAATGACAGCATCTTTATCATCTCTGCATCCCCCAGGGCCATCAGCAGGAGGGAAAGGTTCCCTTCTGCTTAATTGTCAGACAAGCAGTTGAGTTAAGAAATCTGTGATTATTGTATTGTTGACTATACACAGCACATTTTAGGGCTCTATCAAAATAAATCTGTCCCTTTAAAAAAAGTTAACTAAAGCCGGGCACGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCGGATCCTTGAGCTCAGGAGTTAGAGACCTGGACTGGGCAAAATGGTGAGGACCCCATCTCTATAAAAAATACAAAAATTAGCAAGGTGTGGTAATGTGCACCAGTGGTCCCAGCTACTAGAGAGGCCAAGGTGGGAGGATCATCTGGGCCCGGGGGATGAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCTAGCCTGGGTAACAAAGCGAGACCCTGTCTCTAAATACATCAATCAAATAAAAATTTTAAAAAGTTAACTTCCTCATTTACTGGCCTGTTGACCCTCTCCCATCAAAAAAAGAAGGGGAGGAAGTGAGGAGGGAAAGGAGAAGGAGAAAGAGGAGAAGAGGAACTGAAGCAGGAATTTCATATCTGTGGTCCGAGAAGACTGGTTTTTAAAAAACCCAAAGAAGCTGACTAAGGGTATTTGAGGTAGGTCCTGTGATTCTTATCAGAGAAGTGAGTACCAGGCATTAATGGCATGGACTTTGTTTAAGAACATATGAATAGGCGGTGGGAGGCCAAGGGGTAAAGCAATTAGTGTATGAGCCACACTTTTGTCTTTTGCTCTATATTACTAACAATATTAATGGTTGATAACAGTGGGTTAATTACTTTAGCTACTGAAGGTCTATATTTTCCATGTATCAAAGATGGCATTTTTGAGGGATTTCTTAGTTGTCTGTTCTCCAGTGCAGGCTGGGGGCATAACTATGTTTCCAAAGACACAGGAATGAACCACATCTGGGGGCAGTGAGTGGCCGGCCCCCAGTTCTTACCCAGTGCCTCTGGGACAAGCTGTCCCTGAGCCCACACACTTTACCTGTGAACATGAGAGGCGTGATAGTGGCAAAGGCAAAGACCACCATCCCCAGGATGTTGAAGGCCAGGCCGATCTCAGCTACCCAGGCATCGGCCAGGCAGTACTGCAGGAGCTTCAGGGCCAGCAGGCTGGTGAGGTAGGGGAGATGCTGAGCTGCAGAACCATAGCCGATTAGTTTGGAGTCCCAGCAGAGGGGTGTGCTTAGTTCATAAAGGGTTAAGATGTCCTGGGCCCCAAAGTGCACAGTGATCACCACGAAGATGGCCAGTGAGTAGAGGGCTAAATGTTTCCTGGACTTCTCTGGGGCGGGAGCCACATAGAGCTGGACAATGGATCGGTGGTGACGGAACGTGAAGAGCCGGGTGGACTTTGGCTCCTTTAAGGTCTCACCAAAGCAGAAAGCTGCATAGAGAGTCATGGCTATCAGCAAGGCCAAGGCCAGCCAGAAGGGGTTGGCATAACCCTGGGCCCGGAGCCAGTGGCCCCCGAGGAGGCTTGCCAGCATCCCAGCCACCCCGATGCTGGCTTCCAGCAGGGCCATCCGGAAGGTGCGGCTGCGACTGGAGCTGACATCTGCCACGGACGCAAAGCTAGCAGCCAGAAGGCCACCGAAGTCGCCGAGGAGGGCACAAAGGATGCGACCCAGCACGAAGTAGCCGACGTGGAGCTGCAGCTGCACCACAAAAACGGACACTAGGGCCTGGAGCAGCAGGCCCAGCGAGGCCAGCACTAGCAGCGGGCGGCGGCCCACACTGTCGCTCCAAGCTCCCAGCAGGGTGGACGAGAAGAGCCCCACCAGGAAGCCGCCCACGTTCATGTAGAGGGTCCAGTGGGAGGTAAGGGTCTCCACTTCCTGTAGGGGCACAATGACCAGGGTGCGGTTCCTCACTCTGGGTTCCACAATCCCCAAATCCTCGCCATCCCGGGAGCTACAGGGATGAGGACTTCCTTTGGAGCCCTAAACCTCAGAGAATCTTAGCACAGCTTTCAAAATCTGCCAGTGGAGAGGGGGAAGGACATGGACCAAGGCCCCATTCCCTTTCCTTTCCCCCCCCTTTTGTTAACCTGCAAGGCCAGACTTTAGCTCAGCTTTTCGCATCCCACCCGCTGAGGTTCTCGGTCAGGCCCCTTTGCTCTGGTCCCGCCCACCATCCAAAATGCACCCTCCCTCCAGTTACCCGCCACTACCATTACGCAGGCCCCGCCCCTCCGCTGCCCCCACGCTCCAGACCAGGGCCCTCCACCTGCCAGGCTCCTCGCCGCCCCGCTACCTGCATGGTGGGGTCCGCGCTGCGGTTGCTGCAGCCCCCCCTTTGGCGGGTGCCATTGTAGCCGAGGTCGGCGCTGAAGCGGTGCCACAGATACTGCGTGGTGAGCGGGCCCTGCAGGACCAAGGCAAAGTTGGCCAGGAAGACCAGCGGCTCTACCGGGCCCCGGCACAGCACGGCAGCCGCAGGGCGGGCGCGGGGCTTTTCCGGGGGGCTCGCGCTCCCCTCCATGTGCGTGCGCGGCGGAGCTGTCGCCAGGCGGGCGGCGGGGCGCGCGAGCGACTCGCTGCCTGGGACCAGCGACGCGTGGCGTGGGGCTTGCGCTGTCTGCGCCTGCGCCCGGCGTCCCTCCTTAAATGTCCGGCGGGGAGGGGCCTGTGACCTGAGGCCACCGGACTCTCGCCGCGGGTGCACCTGGCTGGGCGTGGGCCAGCGAGGGGCCCGGCACCCCCAGCCCGCGGGATGACCTCACCTGTAAAGTGTGCGTAGACACCGCCCTGCAGCCCTCCCTCCCGGCCCAGACACACCACAGATAACAAGAATATCAACAATTAACATGTATTGACCACTTACTATGTGCTGGGCACGGTATTAAACCCTTTTTGTGCGTTGGTCTCCCGATAACTCTACAGGCTAGCCAATATTAACCATCGCTATCTACCGCTGAGGAAACGAGGTCATCGGGTACTCAAGGCAGAGCTGGAAGAGCACATGACTCCTGATGCTGCTGATGTTCTGCGCTGTAACAGAGAGGCAGCTGGAGAGGATCGGAGTGGGCTGAGCCCAGCTGCCTGGGTTGGAGCACCTAGGCTCTGCCACTACCTTCGGCATGCCACTTACCACCCTGAGCCTCTGTTTTTTCATCTGTAAAATGGAGTTGCTAACAAAACATGTCTCAAAAAGTTGTGGAAAAGCAGTGTCTGGTATATTCAAAGTGCTATTATTGCTATTAACAGGCTGTCACGTCTGGGAGTGGTGGCTCACACCTGTAATCCCAGCACTTTTGGAGGCTGAGGCGCATGGATCGCTTGAACCCAGGAGTTCGAGACCAATCTGGGCAACATGGTAAAACCCTGTCTCTACAAAAAATACACAAAAATTAGCCAGGCGTAGTAGCAGATACCTGTAGTCCCAGGTACTCGGGTGGCTGAGGTGGGAGGATCAATTGAGCCCAGGAGGCAGAGGTTGCAGTGGGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAAAAAATATAAAATAAAAATAAAATAAAAAACAAGCTGTCACTTGCTCCACTCCTGCCCTAGGATCTTTTCCTGGGAAACTAGTCTTGTTTCTGGGGTCAGGCAGGGCCTGGCTCTGCAGTTCCCTTAGAGAAGATGGGGGAGGGCCTGGGAGGTCCTTGGGTGTGAACCTATGCTCCTGGGTGGCTCCCATTATAGGAATTAGGCCAGAAGGCAGTCACCTGCTCTGCTGCTGAGGAGGTCAGACCCTGTCTGGGCCTCTGTTTTATTGCCTGTA 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AGGGACACAGCAAATGGGAGTTCCTTTTCCCTTTGCATTCAGTTACTTACAGGCTTCCTGTTTTCTTCATAACCATTTCTCTCCCTGTGCGACTGCTGACTCCTCAGCAAAACTGCAAACTCCTACAGGACAGTGGATCCTCCAAAGAAGGTATACGATGAGGCATCCAGGGACCCTAGCAGTGTCAGGCCCCTCAAATCCCACTCTGTTGAGACCTCCCCCCGACCCAGAGCAATGACAGCATCTTTATCATCTCTGCATCCCCCAGGGCCATCAGCAGGAGGGAAAGGTTCCCTTCTGCTTAATTGTCAGACAAGCAGTTGAGTTAAGAAATCTGTGATTATTGTATTGTTGACTATACACAGCACATTTTAGGGCTCTATCAAAATAAATCTGTCCCTTTAAAAAAAGTTAACTAAAGCCGGGCACGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCGGATCCTTGAGCTCAGGAGTTAGAGACCTGGACTGGGCAAAATGGTGAGGACCCCATCTCTATAAAAAATACAAAAATTAGCAAGGTGTGGTAATGTGCACCAGTGGTCCCAGCTACTAGAGAGGCCAAGGTGGGAGGATCATCTGGGCCCGGGGGATGAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCTAGCCTGGGTAACAAAGCGAGACCCTGTCTCTAAATACATCAATCAAATAAAAATTTTAAAAAGTTAACTTCCTCATTTACTGGCCTGTTGACCCTCTCCCATCAAAAAAAGAAGGGGAGGAAGTGAGGAGGGAAAGGAGAAGGAGAAAGAGGAGAAGAGGAACTGAAGCAGGAATTTCATATCTGTGGTCCGAGAAGACTGGTTTTTAAAAAACCCAAAGAAGCTGACTAAGGGTATTTGAGGTAGGTCCTGTGATTCTTATCAGAGAAGTGAGTACCAGGCATTAATGGCATGGACTTTGTTTAAGAACATATGAATAGGCGGTGGGAGGCCAAGGGGTAAAGCAATTAGTGTATGAGCCACACTTTTGTCTTTTGCTCTATATTACTAACAATATTAATGGTTGATAACAGTGGGTTAATTACTTTAGCTACTGAAGGTCTATATTTTCCATGTATCAAAGATGGCATTTTTGAGGGATTTCTTAGTTGTCTGTTCTCCAGTGCAGGCTGGGGGCATAACTATGTTTCCAAAGACACAGGAATGAACCACATCTGGGGGCAGTGAGTGGCCGGCCCCCAGTTCTTACCCAGTGCCTCTGGGACAAGCTGTCCCTGAGCCCACACACTTTACCTGTGAACATGAGAGGCGTGATAGTGGCAAAGGCAAAGACCACCATCCCCAGGATGTTGAAGGCCAGGCCGATCTCAGCTACCCAGGCATCGGCCAGGCAGTACTGCAGGAGCTTCAGGGCCAGCAGGCTGGTGAGGTAGGGGAGATGCTGAGCTGCAGAACCATAGCCGATTAGTTTGGAGTCCCAGCAGAGGGGTGTGCTTAGTTCATAAAGGGTTAAGATGTCCTGGGCCCCAAAGTGCACAGTGATCACCACGAAGATGGCCAGTGAGTAGAGGGCTAAATGTTTCCTGGACTTCTCTGGGGCGGGAGCCACATAGAGCTGGACAATGGATCGGTGGTGACGGAACGTGAAGAGCCGGGTGGACTTTGGCTCCTTTAAGGTCTCACCAAAGCAGAAAGCTGCATAGAGAGTCATGGCTATCAGCAAGGCCAAGGCCAGCCAGAAGGGGTTGGCATAACCCTGGGCCCGGAGCCAGTGGCCCCCGAGGAGGCTTGCCAGCATCCCAGCCACCCCGATGCTGGCTTCCAGCAGGGCCATCCGGAAGGTGCGGCTGCGACTGGAGCTGACATCTGCCACGGACGCAAAGCTAGCAGCCAGAAGGCCACCGAAGTCGCCGAGGAGGGCACAAAGGATGCGACCCAGCACGAAGTAGCCGACGTGGAGCTGCAGCTGCACCACAAAAACGGACACTAGGGCCTGGAGCAGCAGGCCCAGCGAGGCCAGCACTAGCAGCGGGCGGCTGCCCACACTGTCGCTCCAAGCTCCCAGCAGGGTGGACGAGAAGAGCCCCACCAGGAAGCCGCCCACGTTCATGTAGAGGGTCCAGTGGGAGGTAAGGGTCTCCACTTCCTGTAGGGGCACAATGACCAGGGTGCGGTTCCTCACTCTGGGTTCCACAATCCCCAAATCCTCGCCATCCCGGGAGCTACAGGGATGAGGACTTCCTTTGGAGCCCTAAACCTCAGAGAATCTTAGCACAGCTTTCAAAATCTGCCAGTGGAGAGGGGGAAGGACATGGACCAAGGCCCCATTCCCTTTCCTTTCCCCCCCCTTTTGTTAACCTGCAAGGCCAGACTTTAGCTCAGCTTTTCGCATCCCACCCGCTGAGGTTCTCGGTCAGGCCCCTTTGCTCTGGTCCCGCCCACCATCCAAAATGCACCCTCCCTCCAGTTACCCGCCACTACCATTACGCAGGCCCCGCCCCTCCGCTGCCCCCACGCTCCAGACCAGGGCCCTCCACCTGCCAGGCTCCTCGCCGCCCCGCTACCTGCATGGTGGGGTCCGCGCTGCGGTTGCTGCAGCCCCCCCTTTGGCGGGTGCCATTGTAGCCGAGGTCGGCGCTGAAGCGGTGCCACAGATACTGCGTGGTGAGCGGGCCCTGCAGGACCAAGGCAAAGTTGGCCAGGAAGACCAGCGGCTCTACCGGGCCCCGGCACAGCACGGCAGCCGCAGGGCGGGCGCGGGGCTTTTCCGGGGGGCTCGCGCTCCCCTCCATGTGCGTGCGCGGCGGAGCTGTCGCCAGGCGGGCGGCGGGGCGCGCGAGCGACTCGCTGCCTGGGACCAGCGACGCGTGGCGTGGGGCTTGCGCTGTCTGCGCCTGCGCCCGGCGTCCCTCCTTAAATGTCCGGCGGGGAGGGGCCTGTGACCTGAGGCCACCGGACTCTCGCCGCGGGTGCACCTGGCTGGGCGTGGGCCAGCGAGGGGCCCGGCACCCCCAGCCCGCGGGATGACCTCACCTGTAAAGTGTGCGTAGACACCGCCCTGCAGCCCTCCCTCCCGGCCCAGACACACCACAGATAACAAGAATATCAACAATTAACATGTATTGACCACTTACTATGTGCTGGGCACGGTATTAAACCCTTTTTGTGCGTTGGTCTCCCGATAACTCTACAGGCTAGCCAATATTAACCATCGCTATCTACCGCTGAGGAAACGAGGTCATCGGGTACTCAAGGCAGAGCTGGAAGAGCACATGACTCCTGATGCTGCTGATGTTCTGCGCTGTAACAGAGAGGCAGCTGGAGAGGATCGGAGTGGGCTGAGCCCAGCTGCCTGGGTTGGAGCACCTAGGCTCTGCCACTACCTTCGGCATGCCACTTACCACCCTGAGCCTCTGTTTTTTCATCTGTAAAATGGAGTTGCTAACAAAACATGTCTCAAAAAGTTGTGGAAAAGCAGTGTCTGGTATATTCAAAGTGCTATTATTGCTATTAACAGGCTGTCACGTCTGGGAGTGGTGGCTCACACCTGTAATCCCAGCACTTTTGGAGGCTGAGGCGCATGGATCGCTTGAACCCAGGAGTTCGAGACCAATCTGGGCAACATGGTAAAACCCTGTCTCTACAAAAAATACACAAAAATTAGCCAGGCGTAGTAGCAGATACCTGTAGTCCCAGGTACTCGGGTGGCTGAGGTGGGAGGATCAATTGAGCCCAGGAGGCAGAGGTTGCAGTGGGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAAAAAATATAAAATAAAAATAAAATAAAAAACAAGCTGTCACTTGCTCCACTCCTGCCCTAGGATCTTTTCCTGGGAAACTAGTCTTGTTTCTGGGGTCAGGCAGGGCCTGGCTCTGCAGTTCCCTTAGAGAAGATGGGGGAGGGCCTGGGAGGTCCTTGGGTGTGAACCTATGCTCCTGGGTGGCTCCCATTATAGGAATTAGGCCAGAAGGCAGTCACCTGCTCTGCTGCTGAGGAGGTCAGACCCTGTCTGGGCCTCTGTTTTATTGCCTGTA 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Task1_train_23888 | The gene PIGS (phosphatidylinositol glycan anchor biosynthesis class S) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Glycosylphosphatidylinositol biosynthesis defect 18 | CACTCTGGCCCTCTCTGGCTACTCCAGTCCCAAGCTGCAGAATCCATCCCCTGCCTGCTTACCTCAGATGCCACGTCGTCCTTAATGACAATGTTGCTGATCTTGCCCAGAAGCTGCGCCAGGGAGGTAAGGGTGGTGGTGGCTGTGGCCAGGTTCTCCACTGACCGAGCCCAGAGCAGCCGGTCTAGCTCCCAGGTCATTAGCCCTTCACTCGTAGGCCCTGAAAGCAGGCATTTTGGAGGCAGCTGGGGCTGAGCAATCCCAAAGAGCAACCTGTAGGAACATCGGAGTAAGATCAAGGTGGCTGAGACCACAAGGCGGGAGATCATGGCTAAGATTTCTCAAATATCTGTCCTGAGCCAGTGATTTTCAATCTTACCCAGAACCATAGGGGTTAAAGGGAAGTACCTCAGGGTCTTGGGGGCATAAGGGGCAACACCAAACAAGTTGGCCCCAAACGCTGCTTCAACAGGTGTTTCTGCTTTTACCTGTTTCTACATTAGATTTCCAAGATCTTGTTTTTTAAAAAAAGGTTCCATGGCTAAAATACTTCTGATAACACCAACTCAGTTTAATCCTTTCACCTTTTCTACCCTCTCTTTGAACAAATGGGGCCAATGGGACTTAGCATTAAGGGATGATCCAGGACTGCCTTTGCCAAGGCACATGTGCTGTGCTTCTCTAAGCCTGCATCCGTGAGAGACACTGCTAGTCAATCAGAAGAATACTCTTTCCTAATGAGCCCAGATACAGCCTTAGAATCCTCAACACAGAGCCTCAGGCAGCCACTCTCAATCCATCAGGCAGCATAAGAATTAACAGCTATTTTCTTAAGCAGCCCTAATCACACTCCATGGACCTGACATTCATGAGTCTATTTTTCTTAAAACTGGTTTTGCTGGCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTAAGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTTTCTACTAAAATTACAAAAAATTAGCCAGTTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAAATGGCACCACTGCACTCCGGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAATAAATGATTTTGTCACCTACTAGTCCTTCTTAGAAGGATGATGGGATCCTTAGAAACTTTTCTTGGTTTCCCTGGGGCTCTAGGCACAGCCAAGATATCCCTGCCAGGTAAGACTTGATTCCACTTTGCAACTCCCCTCTACAGCCAAGGAGACTATGTCCCCAAGTGGATCATCCAGGACCTCACCGCAACTGTGCCAGGAACACCTCCATCACTCGCACCATGTCCACCTCGACTCTCACTGGCAGCACTGAGGCATTATAGGTTTTGGAGTCAACATTATATACCTGAAAGGGGGAATGAGATTGCCACAACATCATACCAGGCCCTTGCACAGCTCTGCCCTAGGCACTCTGGAGAGAAAAGGAAAACATATTCTGTGCTCTTTAGAAGCTATAAACCTCATGGTATAGCTAATATTTTTTGAGTACCTACTACGGAGAGCATTAAATACATTATCCCAATTACCCCCTTGAAAGTCCTGTAGAACATATTTTTTTCTTATCCCATTTTAGAATTCTCCCCCATGAGAAACTTCCAGTCTAACAAGGGAGACAAGGCTCCCAACCTTGCAAGACTCCCACAAATAAGGCGAAGATCTAAGATGGACACAGAATGATCCTAGGTAAGGGCAAAGGGTCACAGTATAGAAAACACTGGCGGAAACAAAAGTGGGGCCGGCAGAAGAGGGGCATGAGCACATAGCACCCTCACCTTCCTGGTGCCTGCCCCTCCCACAGGCTGGGCCATGGAGGACACCAGAAGGAAAACAGAAGGAACACAGTTTCAGGGACACCTGCCTGTCCCAGAAGCATGGGCTCTGGGGTCTGCGTAGTGTGACTATTACCATAATGCCACCCCAGCGGGGACTATGGAAGGCATTGGTGGCCACTGGAGCGCCATCCTTGTCCTGAATGTACAGCGGTGAGTGTGCAAGCTCAGGCACGTAGAGTAGAAAGTTGAGCACAGGGTACAAGGAGGCAGCACTGGATCCTGTGGTATAAAGGGAAAGCAGAATATCAAAACATGCTGGACCTGGACCTTAGTCCCAGGTCGGCCTCTAACTTGCTGGTCACTCACTCTGGGACTGATTCCCCAACTAACAATCATTAGGATATCCTCCTGTCCAGGGTGTCTCTAGTAAAGGGCTTCAGAATGTTCTCCCGAGATGTGCCATACCGATGGAAACATAGTCCTTAGCTCCAAAACACCCCCGAATTCTCCCTCCTCAAAGGCCCCTTGACTGTCTACGACAGCTTTCTTGGCCACTCCCACAATGTACCCATATTACTACAGATAGTTTTATGCAAACCAGAAATCTGACCTTATGTCAGTTCCCTGCTTAATATCCCTCAATCACTAGCCACCCATATCAGGTTAAAGTTCAAACTCCTTAACATGGTCCTTTATGACCTGGCTCCTGCCTGCCTAACCGGCTTCATCTTTGGTCACTCACTCACATTTCAGCCACACTAAACTACTCTGAGCTTCCTGAATGCCTAAGCTCTCTCACTTGTCTGCATCTAAGCTCACAGTTCCCTTTGCCTGAAATGCCCTTCTTTTCTCTACTCAGCACTGTCATAAGGTAGTCCCTCAGTCAATGTTTGCTGAATGAATAAATGAACGGAGGAATTTTCTAAGGCCTCACATGCCACCCCCTCACAATCCTTGGGCCACACTAGCCTGCCTCTGGTATCTGAGATTCCACAATTAGATATACTCACTTTGGTTTGCCTGTGTTACAGTTCTTAGTCACACCTCCTCTTCCTAGTTTCCACCCGAAAAATGAAAAACTCTAATACTAGCTTCAAGGTTATTCAACCTCAATCAGCAGAACTGTCAATTCAAATTCTGCCCTCAAGTACTTTTGCTGTTGTCTTTCCTATGTGTGTGACAGCCTCTCTCCTAGATGGCTTTTAGGGAGATAGACCCAGCCTAGTCATTCATTTGTAAAAAGTGCTAGGAATCACGTTTAATAAATGCTTTTGGATATGATAGGTGTGAAGATGGAGATATCAACAGAGCATCATGAAAAAGGAACCTAGGGCTCAGGCATAGTGGCTCACGCCTATAATCCCAGCATTTTAGGGGGCTGGGGTGGGAAGATCACTTGAGGGGAGTTCAAGACCAGCATGGGCAACATAATGAGATCCTGTCTCTAAAAAAAATTTTGAAAATTAGCCAAGTGTAGTGGCACATACCTATAGTTCTAGCTACTCGAGAGGCTGAGGTGGGAAGACCACTTGAGTCCAGGAGTTGGAGGCTGCAGTGAGCTATGACTGTGCCACTGCACTTTAGACTGGGCAACAGAGCAAGGCCTTGTCTCAAAAAAAGAAAAAAAGGAGCCTCAATCTCCACAGTCTCCTCGGACCAACCCAACCTGGGAACCATCACTGTATATAATCCACCTCCAACTCCTGTCCCCTACCCAGCTGAGCCGTCAGGGTCCCTCCCTAGCCTGGCAGAAAAGAAAGACCCTCATCCTTAGGTGCTCACCCAGCCGGGACTCCACTGGGTTGATGACATGGGGGAGGCTGTGCATGTCCAAATAGTAGCTGGAGGAAGCTGAGTCAAAGCGGGGATTCACCCCCAACATTGCATAGTAAAGAATCTGTAGAGCAAACAGGGAGTGGTTACTTTGTTTAGATTTATATTCTACTTTCTCCCAAAAAAGATTTGAGGTGCCTTAAAAAAGACACAATCAGGACAAGGCAACATATAAGAGACAAAATCAGGGCTGAGAGAAAATAATTGCAGAAGAAAATAGCAAAGCCAAGGGTAAACTGAATAAACTAAATACGTGCTTTAAAAATCACGTATTTTACCAGGTTTCCTAACAGTCTACACAAAGAGAGAAACAAAGAACAGCATAATTCAGTGTCTACAAGATCAAATCAAGCCAGTT 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CACTCTGGCCCTCTCTGGCTACTCCAGTCCCAAGCTGCAGAATCCATCCCCTGCCTGCTTACCTCAGATGCCACGTCGTCCTTAATGACAATGTTGCTGATCTTGCCCAGAAGCTGCGCCAGGGAGGTAAGGGTGGTGGTGGCTGTGGCCAGGTTCTCCACTGACCGAGCCCAGAGCAGCCGGTCTAGCTCCCAGGTCATTAGCCCTTCACTCGTAGGCCCTGAAAGCAGGCATTTTGGAGGCAGCTGGGGCTGAGCAATCCCAAAGAGCAACCTGTAGGAACATCGGAGTAAGATCAAGGTGGCTGAGACCACAAGGCGGGAGATCATGGCTAAGATTTCTCAAATATCTGTCCTGAGCCAGTGATTTTCAATCTTACCCAGAACCATAGGGGTTAAAGGGAAGTACCTCAGGGTCTTGGGGGCATAAGGGGCAACACCAAACAAGTTGGCCCCAAACGCTGCTTCAACAGGTGTTTCTGCTTTTACCTGTTTCTACATTAGATTTCCAAGATCTTGTTTTTTAAAAAAAGGTTCCATGGCTAAAATACTTCTGATAACACCAACTCAGTTTAATCCTTTCACCTTTTCTACCCTCTCTTTGAACAAATGGGGCCAATGGGACTTAGCATTAAGGGATGATCCAGGACTGCCTTTGCCAAGGCACATGTGCTGTGCTTCTCTAAGCCTGCATCCGTGAGAGACACTGCTAGTCAATCAGAAGAATACTCTTTCCTAATGAGCCCAGATACAGCCTTAGAATCCTCAACACAGAGCCTCAGGCAGCCACTCTCAATCCATCAGGCAGCATAAGAATTAACAGCTATTTTCTTAAGCAGCCCTAATCACACTCCATGGACCTGACATTCATGAGTCTATTTTTCTTAAAACTGGTTTTGCTGGCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTAAGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTTTCTACTAAAATTACAAAAAATTAGCCAGTTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAAATGGCACCACTGCACTCCGGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAATAAATGATTTTGTCACCTACTAGTCCTTCTTAGAAGGATGATGGGATCCTTAGAAACTTTTCTTGGTTTCCCTGGGGCTCTAGGCACAGCCAAGATATCCCTGCCAGGTAAGACTTGATTCCACTTTGCAACTCCCCTCTACAGCCAAGGAGACTATGTCCCCAAGTGGATCATCCAGGACCTCACCGCAACTGTGCCAGGAACACCTCCATCACTCGCACCATGTCCACCTCGACTCTCACTGGCAGCACTGAGGCATTATAGGTTTTGGAGTCAACATTATATACCTGAAAGGGGGAATGAGATTGCCACAACATCATACCAGGCCCTTGCACAGCTCTGCCCTAGGCACTCTGGAGAGAAAAGGAAAACATATTCTGTGCTCTTTAGAAGCTATAAACCTCATGGTATAGCTAATATTTTTTGAGTACCTACTACGGAGAGCATTAAATACATTATCCCAATTACCCCCTTGAAAGTCCTGTAGAACATATTTTTTTCTTATCCCATTTTAGAATTCTCCCCCATGAGAAACTTCCAGTCTAACAAGGGAGACAAGGCTCCCAACCTTGCAAGACTCCCACAAATAAGGCGAAGATCTAAGATGGACACAGAATGATCCTAGGTAAGGGCAAAGGGTCACAGTATAGAAAACACTGGCGGAAACAAAAGTGGGGCCGGCAGAAGAGGGGCATGAGCACATAGCACCCTCACCTTCCTGGTGCCTGCCCCTCCCACAGGCTGGGCCATGGAGGACACCAGAAGGAAAACAGAAGGAACACAGTTTCAGGGACACCTGCCTGTCCCAGAAGCATGGGCTCTGGGGTCTGCGTAGTGTGACTATTACCATAATGCCATCCCAGCGGGGACTATGGAAGGCATTGGTGGCCACTGGAGCGCCATCCTTGTCCTGAATGTACAGCGGTGAGTGTGCAAGCTCAGGCACGTAGAGTAGAAAGTTGAGCACAGGGTACAAGGAGGCAGCACTGGATCCTGTGGTATAAAGGGAAAGCAGAATATCAAAACATGCTGGACCTGGACCTTAGTCCCAGGTCGGCCTCTAACTTGCTGGTCACTCACTCTGGGACTGATTCCCCAACTAACAATCATTAGGATATCCTCCTGTCCAGGGTGTCTCTAGTAAAGGGCTTCAGAATGTTCTCCCGAGATGTGCCATACCGATGGAAACATAGTCCTTAGCTCCAAAACACCCCCGAATTCTCCCTCCTCAAAGGCCCCTTGACTGTCTACGACAGCTTTCTTGGCCACTCCCACAATGTACCCATATTACTACAGATAGTTTTATGCAAACCAGAAATCTGACCTTATGTCAGTTCCCTGCTTAATATCCCTCAATCACTAGCCACCCATATCAGGTTAAAGTTCAAACTCCTTAACATGGTCCTTTATGACCTGGCTCCTGCCTGCCTAACCGGCTTCATCTTTGGTCACTCACTCACATTTCAGCCACACTAAACTACTCTGAGCTTCCTGAATGCCTAAGCTCTCTCACTTGTCTGCATCTAAGCTCACAGTTCCCTTTGCCTGAAATGCCCTTCTTTTCTCTACTCAGCACTGTCATAAGGTAGTCCCTCAGTCAATGTTTGCTGAATGAATAAATGAACGGAGGAATTTTCTAAGGCCTCACATGCCACCCCCTCACAATCCTTGGGCCACACTAGCCTGCCTCTGGTATCTGAGATTCCACAATTAGATATACTCACTTTGGTTTGCCTGTGTTACAGTTCTTAGTCACACCTCCTCTTCCTAGTTTCCACCCGAAAAATGAAAAACTCTAATACTAGCTTCAAGGTTATTCAACCTCAATCAGCAGAACTGTCAATTCAAATTCTGCCCTCAAGTACTTTTGCTGTTGTCTTTCCTATGTGTGTGACAGCCTCTCTCCTAGATGGCTTTTAGGGAGATAGACCCAGCCTAGTCATTCATTTGTAAAAAGTGCTAGGAATCACGTTTAATAAATGCTTTTGGATATGATAGGTGTGAAGATGGAGATATCAACAGAGCATCATGAAAAAGGAACCTAGGGCTCAGGCATAGTGGCTCACGCCTATAATCCCAGCATTTTAGGGGGCTGGGGTGGGAAGATCACTTGAGGGGAGTTCAAGACCAGCATGGGCAACATAATGAGATCCTGTCTCTAAAAAAAATTTTGAAAATTAGCCAAGTGTAGTGGCACATACCTATAGTTCTAGCTACTCGAGAGGCTGAGGTGGGAAGACCACTTGAGTCCAGGAGTTGGAGGCTGCAGTGAGCTATGACTGTGCCACTGCACTTTAGACTGGGCAACAGAGCAAGGCCTTGTCTCAAAAAAAGAAAAAAAGGAGCCTCAATCTCCACAGTCTCCTCGGACCAACCCAACCTGGGAACCATCACTGTATATAATCCACCTCCAACTCCTGTCCCCTACCCAGCTGAGCCGTCAGGGTCCCTCCCTAGCCTGGCAGAAAAGAAAGACCCTCATCCTTAGGTGCTCACCCAGCCGGGACTCCACTGGGTTGATGACATGGGGGAGGCTGTGCATGTCCAAATAGTAGCTGGAGGAAGCTGAGTCAAAGCGGGGATTCACCCCCAACATTGCATAGTAAAGAATCTGTAGAGCAAACAGGGAGTGGTTACTTTGTTTAGATTTATATTCTACTTTCTCCCAAAAAAGATTTGAGGTGCCTTAAAAAAGACACAATCAGGACAAGGCAACATATAAGAGACAAAATCAGGGCTGAGAGAAAATAATTGCAGAAGAAAATAGCAAAGCCAAGGGTAAACTGAATAAACTAAATACGTGCTTTAAAAATCACGTATTTTACCAGGTTTCCTAACAGTCTACACAAAGAGAGAAACAAAGAACAGCATAATTCAGTGTCTACAAGATCAAATCAAGCCAGTT 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Task1_train_23889 | A change on Chromosome 17 affects gene PIGS (phosphatidylinositol glycan anchor biosynthesis class S). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Glycosylphosphatidylinositol biosynthesis defect 18 | ATGACAATGTTGCTGATCTTGCCCAGAAGCTGCGCCAGGGAGGTAAGGGTGGTGGTGGCTGTGGCCAGGTTCTCCACTGACCGAGCCCAGAGCAGCCGGTCTAGCTCCCAGGTCATTAGCCCTTCACTCGTAGGCCCTGAAAGCAGGCATTTTGGAGGCAGCTGGGGCTGAGCAATCCCAAAGAGCAACCTGTAGGAACATCGGAGTAAGATCAAGGTGGCTGAGACCACAAGGCGGGAGATCATGGCTAAGATTTCTCAAATATCTGTCCTGAGCCAGTGATTTTCAATCTTACCCAGAACCATAGGGGTTAAAGGGAAGTACCTCAGGGTCTTGGGGGCATAAGGGGCAACACCAAACAAGTTGGCCCCAAACGCTGCTTCAACAGGTGTTTCTGCTTTTACCTGTTTCTACATTAGATTTCCAAGATCTTGTTTTTTAAAAAAAGGTTCCATGGCTAAAATACTTCTGATAACACCAACTCAGTTTAATCCTTTCACCTTTTCTACCCTCTCTTTGAACAAATGGGGCCAATGGGACTTAGCATTAAGGGATGATCCAGGACTGCCTTTGCCAAGGCACATGTGCTGTGCTTCTCTAAGCCTGCATCCGTGAGAGACACTGCTAGTCAATCAGAAGAATACTCTTTCCTAATGAGCCCAGATACAGCCTTAGAATCCTCAACACAGAGCCTCAGGCAGCCACTCTCAATCCATCAGGCAGCATAAGAATTAACAGCTATTTTCTTAAGCAGCCCTAATCACACTCCATGGACCTGACATTCATGAGTCTATTTTTCTTAAAACTGGTTTTGCTGGCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTAAGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTTTCTACTAAAATTACAAAAAATTAGCCAGTTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAAATGGCACCACTGCACTCCGGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAATAAATGATTTTGTCACCTACTAGTCCTTCTTAGAAGGATGATGGGATCCTTAGAAACTTTTCTTGGTTTCCCTGGGGCTCTAGGCACAGCCAAGATATCCCTGCCAGGTAAGACTTGATTCCACTTTGCAACTCCCCTCTACAGCCAAGGAGACTATGTCCCCAAGTGGATCATCCAGGACCTCACCGCAACTGTGCCAGGAACACCTCCATCACTCGCACCATGTCCACCTCGACTCTCACTGGCAGCACTGAGGCATTATAGGTTTTGGAGTCAACATTATATACCTGAAAGGGGGAATGAGATTGCCACAACATCATACCAGGCCCTTGCACAGCTCTGCCCTAGGCACTCTGGAGAGAAAAGGAAAACATATTCTGTGCTCTTTAGAAGCTATAAACCTCATGGTATAGCTAATATTTTTTGAGTACCTACTACGGAGAGCATTAAATACATTATCCCAATTACCCCCTTGAAAGTCCTGTAGAACATATTTTTTTCTTATCCCATTTTAGAATTCTCCCCCATGAGAAACTTCCAGTCTAACAAGGGAGACAAGGCTCCCAACCTTGCAAGACTCCCACAAATAAGGCGAAGATCTAAGATGGACACAGAATGATCCTAGGTAAGGGCAAAGGGTCACAGTATAGAAAACACTGGCGGAAACAAAAGTGGGGCCGGCAGAAGAGGGGCATGAGCACATAGCACCCTCACCTTCCTGGTGCCTGCCCCTCCCACAGGCTGGGCCATGGAGGACACCAGAAGGAAAACAGAAGGAACACAGTTTCAGGGACACCTGCCTGTCCCAGAAGCATGGGCTCTGGGGTCTGCGTAGTGTGACTATTACCATAATGCCACCCCAGCGGGGACTATGGAAGGCATTGGTGGCCACTGGAGCGCCATCCTTGTCCTGAATGTACAGCGGTGAGTGTGCAAGCTCAGGCACGTAGAGTAGAAAGTTGAGCACAGGGTACAAGGAGGCAGCACTGGATCCTGTGGTATAAAGGGAAAGCAGAATATCAAAACATGCTGGACCTGGACCTTAGTCCCAGGTCGGCCTCTAACTTGCTGGTCACTCACTCTGGGACTGATTCCCCAACTAACAATCATTAGGATATCCTCCTGTCCAGGGTGTCTCTAGTAAAGGGCTTCAGAATGTTCTCCCGAGATGTGCCATACCGATGGAAACATAGTCCTTAGCTCCAAAACACCCCCGAATTCTCCCTCCTCAAAGGCCCCTTGACTGTCTACGACAGCTTTCTTGGCCACTCCCACAATGTACCCATATTACTACAGATAGTTTTATGCAAACCAGAAATCTGACCTTATGTCAGTTCCCTGCTTAATATCCCTCAATCACTAGCCACCCATATCAGGTTAAAGTTCAAACTCCTTAACATGGTCCTTTATGACCTGGCTCCTGCCTGCCTAACCGGCTTCATCTTTGGTCACTCACTCACATTTCAGCCACACTAAACTACTCTGAGCTTCCTGAATGCCTAAGCTCTCTCACTTGTCTGCATCTAAGCTCACAGTTCCCTTTGCCTGAAATGCCCTTCTTTTCTCTACTCAGCACTGTCATAAGGTAGTCCCTCAGTCAATGTTTGCTGAATGAATAAATGAACGGAGGAATTTTCTAAGGCCTCACATGCCACCCCCTCACAATCCTTGGGCCACACTAGCCTGCCTCTGGTATCTGAGATTCCACAATTAGATATACTCACTTTGGTTTGCCTGTGTTACAGTTCTTAGTCACACCTCCTCTTCCTAGTTTCCACCCGAAAAATGAAAAACTCTAATACTAGCTTCAAGGTTATTCAACCTCAATCAGCAGAACTGTCAATTCAAATTCTGCCCTCAAGTACTTTTGCTGTTGTCTTTCCTATGTGTGTGACAGCCTCTCTCCTAGATGGCTTTTAGGGAGATAGACCCAGCCTAGTCATTCATTTGTAAAAAGTGCTAGGAATCACGTTTAATAAATGCTTTTGGATATGATAGGTGTGAAGATGGAGATATCAACAGAGCATCATGAAAAAGGAACCTAGGGCTCAGGCATAGTGGCTCACGCCTATAATCCCAGCATTTTAGGGGGCTGGGGTGGGAAGATCACTTGAGGGGAGTTCAAGACCAGCATGGGCAACATAATGAGATCCTGTCTCTAAAAAAAATTTTGAAAATTAGCCAAGTGTAGTGGCACATACCTATAGTTCTAGCTACTCGAGAGGCTGAGGTGGGAAGACCACTTGAGTCCAGGAGTTGGAGGCTGCAGTGAGCTATGACTGTGCCACTGCACTTTAGACTGGGCAACAGAGCAAGGCCTTGTCTCAAAAAAAGAAAAAAAGGAGCCTCAATCTCCACAGTCTCCTCGGACCAACCCAACCTGGGAACCATCACTGTATATAATCCACCTCCAACTCCTGTCCCCTACCCAGCTGAGCCGTCAGGGTCCCTCCCTAGCCTGGCAGAAAAGAAAGACCCTCATCCTTAGGTGCTCACCCAGCCGGGACTCCACTGGGTTGATGACATGGGGGAGGCTGTGCATGTCCAAATAGTAGCTGGAGGAAGCTGAGTCAAAGCGGGGATTCACCCCCAACATTGCATAGTAAAGAATCTGTAGAGCAAACAGGGAGTGGTTACTTTGTTTAGATTTATATTCTACTTTCTCCCAAAAAAGATTTGAGGTGCCTTAAAAAAGACACAATCAGGACAAGGCAACATATAAGAGACAAAATCAGGGCTGAGAGAAAATAATTGCAGAAGAAAATAGCAAAGCCAAGGGTAAACTGAATAAACTAAATACGTGCTTTAAAAATCACGTATTTTACCAGGTTTCCTAACAGTCTACACAAAGAGAGAAACAAAGAACAGCATAATTCAGTGTCTACAAGATCAAATCAAGCCAGTTATTCAGAAGCAATTACTCCCACTAGGAAGACCTGATAAAAATTTCTCCCACGTGTTTTCCCTACAAGGAGACAGCGTGATACAG 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ATGACAATGTTGCTGATCTTGCCCAGAAGCTGCGCCAGGGAGGTAAGGGTGGTGGTGGCTGTGGCCAGGTTCTCCACTGACCGAGCCCAGAGCAGCCGGTCTAGCTCCCAGGTCATTAGCCCTTCACTCGTAGGCCCTGAAAGCAGGCATTTTGGAGGCAGCTGGGGCTGAGCAATCCCAAAGAGCAACCTGTAGGAACATCGGAGTAAGATCAAGGTGGCTGAGACCACAAGGCGGGAGATCATGGCTAAGATTTCTCAAATATCTGTCCTGAGCCAGTGATTTTCAATCTTACCCAGAACCATAGGGGTTAAAGGGAAGTACCTCAGGGTCTTGGGGGCATAAGGGGCAACACCAAACAAGTTGGCCCCAAACGCTGCTTCAACAGGTGTTTCTGCTTTTACCTGTTTCTACATTAGATTTCCAAGATCTTGTTTTTTAAAAAAAGGTTCCATGGCTAAAATACTTCTGATAACACCAACTCAGTTTAATCCTTTCACCTTTTCTACCCTCTCTTTGAACAAATGGGGCCAATGGGACTTAGCATTAAGGGATGATCCAGGACTGCCTTTGCCAAGGCACATGTGCTGTGCTTCTCTAAGCCTGCATCCGTGAGAGACACTGCTAGTCAATCAGAAGAATACTCTTTCCTAATGAGCCCAGATACAGCCTTAGAATCCTCAACACAGAGCCTCAGGCAGCCACTCTCAATCCATCAGGCAGCATAAGAATTAACAGCTATTTTCTTAAGCAGCCCTAATCACACTCCATGGACCTGACATTCATGAGTCTATTTTTCTTAAAACTGGTTTTGCTGGCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTAAGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTTTCTACTAAAATTACAAAAAATTAGCCAGTTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAAATGGCACCACTGCACTCCGGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAATAAATGATTTTGTCACCTACTAGTCCTTCTTAGAAGGATGATGGGATCCTTAGAAACTTTTCTTGGTTTCCCTGGGGCTCTAGGCACAGCCAAGATATCCCTGCCAGGTAAGACTTGATTCCACTTTGCAACTCCCCTCTACAGCCAAGGAGACTATGTCCCCAAGTGGATCATCCAGGACCTCACCGCAACTGTGCCAGGAACACCTCCATCACTCGCACCATGTCCACCTCGACTCTCACTGGCAGCACTGAGGCATTATAGGTTTTGGAGTCAACATTATATACCTGAAAGGGGGAATGAGATTGCCACAACATCATACCAGGCCCTTGCACAGCTCTGCCCTAGGCACTCTGGAGAGAAAAGGAAAACATATTCTGTGCTCTTTAGAAGCTATAAACCTCATGGTATAGCTAATATTTTTTGAGTACCTACTACGGAGAGCATTAAATACATTATCCCAATTACCCCCTTGAAAGTCCTGTAGAACATATTTTTTTCTTATCCCATTTTAGAATTCTCCCCCATGAGAAACTTCCAGTCTAACAAGGGAGACAAGGCTCCCAACCTTGCAAGACTCCCACAAATAAGGCGAAGATCTAAGATGGACACAGAATGATCCTAGGTAAGGGCAAAGGGTCACAGTATAGAAAACACTGGCGGAAACAAAAGTGGGGCCGGCAGAAGAGGGGCATGAGCACATAGCACCCTCACCTTCCTGGTGCCTGCCCCTCCCACAGGCTGGGCCATGGAGGACACCAGAAGGAAAACAGAAGGAACACAGTTTCAGGGACACCTGCCTGTCCCAGAAGCATGGGCTCTGGGGTCTGCGTAGTGTGACTATTACCATAATGCCACCCCAGCGGGGACTATGGAAGGCATTGGTGGCCACTGGAGCGCCATCCTTGTCCTGAATGTACAGCGGTGAGTGTGCAAGCTCACGCACGTAGAGTAGAAAGTTGAGCACAGGGTACAAGGAGGCAGCACTGGATCCTGTGGTATAAAGGGAAAGCAGAATATCAAAACATGCTGGACCTGGACCTTAGTCCCAGGTCGGCCTCTAACTTGCTGGTCACTCACTCTGGGACTGATTCCCCAACTAACAATCATTAGGATATCCTCCTGTCCAGGGTGTCTCTAGTAAAGGGCTTCAGAATGTTCTCCCGAGATGTGCCATACCGATGGAAACATAGTCCTTAGCTCCAAAACACCCCCGAATTCTCCCTCCTCAAAGGCCCCTTGACTGTCTACGACAGCTTTCTTGGCCACTCCCACAATGTACCCATATTACTACAGATAGTTTTATGCAAACCAGAAATCTGACCTTATGTCAGTTCCCTGCTTAATATCCCTCAATCACTAGCCACCCATATCAGGTTAAAGTTCAAACTCCTTAACATGGTCCTTTATGACCTGGCTCCTGCCTGCCTAACCGGCTTCATCTTTGGTCACTCACTCACATTTCAGCCACACTAAACTACTCTGAGCTTCCTGAATGCCTAAGCTCTCTCACTTGTCTGCATCTAAGCTCACAGTTCCCTTTGCCTGAAATGCCCTTCTTTTCTCTACTCAGCACTGTCATAAGGTAGTCCCTCAGTCAATGTTTGCTGAATGAATAAATGAACGGAGGAATTTTCTAAGGCCTCACATGCCACCCCCTCACAATCCTTGGGCCACACTAGCCTGCCTCTGGTATCTGAGATTCCACAATTAGATATACTCACTTTGGTTTGCCTGTGTTACAGTTCTTAGTCACACCTCCTCTTCCTAGTTTCCACCCGAAAAATGAAAAACTCTAATACTAGCTTCAAGGTTATTCAACCTCAATCAGCAGAACTGTCAATTCAAATTCTGCCCTCAAGTACTTTTGCTGTTGTCTTTCCTATGTGTGTGACAGCCTCTCTCCTAGATGGCTTTTAGGGAGATAGACCCAGCCTAGTCATTCATTTGTAAAAAGTGCTAGGAATCACGTTTAATAAATGCTTTTGGATATGATAGGTGTGAAGATGGAGATATCAACAGAGCATCATGAAAAAGGAACCTAGGGCTCAGGCATAGTGGCTCACGCCTATAATCCCAGCATTTTAGGGGGCTGGGGTGGGAAGATCACTTGAGGGGAGTTCAAGACCAGCATGGGCAACATAATGAGATCCTGTCTCTAAAAAAAATTTTGAAAATTAGCCAAGTGTAGTGGCACATACCTATAGTTCTAGCTACTCGAGAGGCTGAGGTGGGAAGACCACTTGAGTCCAGGAGTTGGAGGCTGCAGTGAGCTATGACTGTGCCACTGCACTTTAGACTGGGCAACAGAGCAAGGCCTTGTCTCAAAAAAAGAAAAAAAGGAGCCTCAATCTCCACAGTCTCCTCGGACCAACCCAACCTGGGAACCATCACTGTATATAATCCACCTCCAACTCCTGTCCCCTACCCAGCTGAGCCGTCAGGGTCCCTCCCTAGCCTGGCAGAAAAGAAAGACCCTCATCCTTAGGTGCTCACCCAGCCGGGACTCCACTGGGTTGATGACATGGGGGAGGCTGTGCATGTCCAAATAGTAGCTGGAGGAAGCTGAGTCAAAGCGGGGATTCACCCCCAACATTGCATAGTAAAGAATCTGTAGAGCAAACAGGGAGTGGTTACTTTGTTTAGATTTATATTCTACTTTCTCCCAAAAAAGATTTGAGGTGCCTTAAAAAAGACACAATCAGGACAAGGCAACATATAAGAGACAAAATCAGGGCTGAGAGAAAATAATTGCAGAAGAAAATAGCAAAGCCAAGGGTAAACTGAATAAACTAAATACGTGCTTTAAAAATCACGTATTTTACCAGGTTTCCTAACAGTCTACACAAAGAGAGAAACAAAGAACAGCATAATTCAGTGTCTACAAGATCAAATCAAGCCAGTTATTCAGAAGCAATTACTCCCACTAGGAAGACCTGATAAAAATTTCTCCCACGTGTTTTCCCTACAAGGAGACAGCGTGATACAG 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Task1_train_23890 | The gene PIGS (phosphatidylinositol glycan anchor biosynthesis class S) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Glycosylphosphatidylinositol biosynthesis defect 18 | CCAGAAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAAATCGTGCCATTGCGCTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAGAAAACCAGAAGTTTGTGTGTGTACAGAGGCTGAACCATACGAAATATCATTTTTTTAAAAAAATGTTTTAACCAGCCGGGTGCGGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGATCACTTGAGCCCAGGAGCTCGAGACCAGCCTGGGCAACATGGCGAAACCCTATCTCTACTAAAAATACCAAAACAAATCAGCTGGGTGTGATGGTGTGCGGCTGTAGTCCCAGCTATTAAGGCAGGTGGGCTGAGATGGGAGGATCGCTTGAGCCCAATAGGTCAAGGCTGCAGTGGGCCCTGATCGTGCCACCATACTCCAGCCTGGGCAACAAAGAGAGACCCTTTCTCAAAAAAAAAAAAAAAAAAGAAAAGAAAAGTTTTCACCAAGGCTAAAGAACTAAAAAAGTAAATGGCACACAGATGCCTCATGCTCTAGACTCAGCCCAAATCTCCAGTCATTCCCAGTCTTTCACTACACATTCCAGTAAGGCAAAACTGCTCATAGGTCCCCCAATATGCTGATTCACCCCGCCACACTTTCACACAGGAGTATAGTTTGTTGGTTAAAAGCTTGAACACTGGAATCAGTCAGGCCTGGATTTAAATCCCAGTTCCATCTCTTACTAGCTGTGTGACCTTGCACAAGTTAAATTCTCTAAGGCTCAGTTTCTTCATTTATAAAATGGGGATCATATCATTAGAAAGGATTAAATGAGGCAACACATATAAAATGCTTCACCTAGTTTCTGGCACACAGCGAGCAACAACTATCAGCTATCCTTATACTGTCTCATGCTATTAACTTTGCCTGAAATTCTCTCCCTCCTTTTCCCACTTAACCTGAATTCCTACACATCCTTTAAAAATCCGACTTAAGAATTACATCTCTCAAAACTTTCTCTGCCTTTCTTTCCTCCCAGATGGTTAATACTCTTTACTAAGTGCAATCTCTGTTTCTTGTATACTTCTACTGTAATTTATTTTATCTTTCTCCCCTACCTATGAACATCTTGAAACCATTATCAATTTCTTATTCATTCCTAAATTCTTGGTACCTAAAAAAAAGTACCCCAGTAAAGTGTTTAATGTTAAACTGAATAGGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCATGCGGATCACCTGAAGTCAGGAGTTCGAGAGCAGCATGGCCAACATGGCATAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGTCGCGCGCCTGTAATCCCAGCTACTCGGGTGGCTGGTGCAGAAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAGCTCCGTCTCAAAATATAATAAATAAATAAACAAACAAACTAAATAGGGCCTATATGCAAATCCAATTTAATTTCAAACTCTGTGTTCTTTCCACTATATCCCACCTCTTCCCCTATACCCTGATGGGCATCAACTGCTTCCGATTAGGTAGCCTGTCTTACGAGTAAAATTGCTATTTAGTGACTGTGAATTTGAAAGTAGTTTTTTTCTGACCAAACACACTGTTCATTCAGAGGTCTTTCAACAGTAAGTTTTTAACTGCGTTTATGGTACACCCCCGCTCCTCCCACCCAACTCAGCTCTGAACTGAGCTCAGAGGCGAAAAGCAGCCCTGATCCCCAGTAACTCACATTTCAGAGGAATCTCTCTTTCATGCACAACGGTGAAGGGCAGCTTCTCCTGGTCGTCCAGGGGCACTGACTCCCGCGTAAACACGACAGTGACAGGCACCATGAGGCGGAGCTACAGGAAGGAGCATCAGGGCCGTCACTGAGTCTCCACCTTGCCGGGGGGGCTGTCCCCCGACCCTCCCGCACAGCAGTCTCACCTGAAGGGCATTCAGGCCACTGATCTGGGAGTAAGGCAACGAGGCCCGGTAGGTCTCCGTGGTCTTCCACCAGAGCGGTAGCCCCAGCACGATGGCCACCGCAGCGAAGAAGAGGGCGGCGCGCTTGCCCCGGGCCACCTCTGAGGGCATGGGGAACCGACTGAGGCGCTGGAAACGGGCTAGGGTACCGGCCCCATCCCCGACGCGGAGAAGCCCCAACCACCGGCCTCCAGGGGCCCGCGTTCATTGGGATCTCCGTGCGAAGGGACCCGGCCCAAGCCTGAAGGGAATCTCGTCTGAAGAGACCCCCGAGCCCCCCGTCCGCGGGACCTCTCGCACACCACAATCCCCACCCCTGCTATTCCTCCCTTGCCATCAGCTAGCTGCAGGCCCCCCACCCGAAGCCCACCGCACCTAGGTGTGTAGCCGCAGCCCCGGCGGCCGCCATGCTAGCTTCCGGCTGCTCCGGCCACCGTGGGGGCAGAGCTTCGTGAGCCTCACCCAATCGGAATCTCTGCAACGAGGGGGCAGGACCGCGGCGGTGATCGGGGCCAATCGCGAGCGCTACTCCAGACCCGCAGACGGGAGCAAGCGGGCGAGGGGTGGGAGGGCTCCGCTGGGAGCTTCGCTGGGGATCTGAAAGGAAGTCACCCGGGCGCGGAGGGACAGCCTAGGGGCCGTGCGGGTTTCGGCGCTGCTGGAACGAAGTTCCCCGCTTCCCTGTAGAACACACTTCTAGCCCCGCAATCAAGAGCGCAACCTCTGCAGTCCTTAAATACTAGCTGGGCAACTACAGGCAGCTCCGAGGCTCATCTGAAAATGGAGATATTTACATAAATGAGGCCGTTCTTGTAAGGAGCCTGGCACACGGAAAGCCCTCAACGTCAACTGTCACGGTCTTATTATCCTTATCGTAGAACTCCTCTTAGGGTGCCCTCTCCTCAAAGCCTCAAACACGGAGGTAGCAAGCTAGTATGTTTTAGCACAATTGGCTCTCTCGCTATTTTAAAATACGTTTTAATTCATTTCCAACTTGGAAAACTCAGAATACTTCACTTAAAAATCTTGAAAAGTCATGAGCCCAGACTCTAGATGCTGATCACTGCGGTTCAAATCCTGGCTTCATCACTTATTAGGTGAGTGATCGTGAGAAGATCGTTCTGTGCCTATCTGTGCCTGTTTTCTCTATTAAAATAGGGATGATAGTAATAGTACCTACTTTATAGAGTTGTATGAAATGTGTCAGTACATATAAAGTGATTAGAACAGGGTTGGTGCTATGTGCAAGCTATTTTTGTTATTATAAAGTCAGGCCACACAGGGTGGAGCATTTGTAGCCTCCCCAGTTGACACAGAACACACGCAGCTTGTTATCTCTTCTTTTTATCTGCTTAGACCCAGGTTCTCAGCCTACCTCACAACCCAGCCCAGTGGTTAAAGTTCAGCATCAGGCCTCACCAGAGCTGTCCTTACCCAGACCCTCCAATTGGCTCCCTTTGTGCCCACTTCTACCCCAAATGAAAATGGGCCATAGCCCTTGGCAACCTCCTAGATGCCCTGCTCAGCCCTGGCAGCCCGCAGAGCCTTGGTTTTCCTCTTTGGGCGGGAGTCCAGGTGCTCGCTTGCCCTTACTGGTGTGGCTCACCCTAGTGGAAGGTACCAGGTCCCAGCTGGGCTTAACACTGCGAGATGGGAGAGACTCCCACCCACTCTTATCCCAGCCTGTCTTGCTGCCTCCCTGCTTTGAGCCTTGCACAAATCTGCCTTCAGGAGTTGCCAGTTTGGCCTCACTCCATACTTCTGTAGCTGCAGCCCAGTGCCACTGATGTGGCAGTCCCTAGAAGACTTGCAGTCTTCCTCATTGCCCCACTCCAGACTTGGACATCAAGAGAGCAAGAGCCTGAGCTGGGGATGGTGACTGCATGTGCCCTTCCTCCATAACTTGAAGCCCAGTAAGACTCAAATCCCACCCTCTCCACCTCCAGAGTCAGAGGGCCCAGAGATAGAATTAGCAGAGATCAGAAACTGGGAGGTGGGAATTTGATGTG 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CCAGAAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAAATCGTGCCATTGCGCTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAGAAAACCAGAAGTTTGTGTGTGTACAGAGGCTGAACCATACGAAATATCATTTTTTTAAAAAAATGTTTTAACCAGCCGGGTGCGGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGATCACTTGAGCCCAGGAGCTCGAGACCAGCCTGGGCAACATGGCGAAACCCTATCTCTACTAAAAATACCAAAACAAATCAGCTGGGTGTGATGGTGTGCGGCTGTAGTCCCAGCTATTAAGGCAGGTGGGCTGAGATGGGAGGATCGCTTGAGCCCAATAGGTCAAGGCTGCAGTGGGCCCTGATCGTGCCACCATACTCCAGCCTGGGCAACAAAGAGAGACCCTTTCTCAAAAAAAAAAAAAAAAAAGAAAAGAAAAGTTTTCACCAAGGCTAAAGAACTAAAAAAGTAAATGGCACACAGATGCCTCATGCTCTAGACTCAGCCCAAATCTCCAGTCATTCCCAGTCTTTCACTACACATTCCAGTAAGGCAAAACTGCTCATAGGTCCCCCAATATGCTGATTCACCCCGCCACACTTTCACACAGGAGTATAGTTTGTTGGTTAAAAGCTTGAACACTGGAATCAGTCAGGCCTGGATTTAAATCCCAGTTCCATCTCTTACTAGCTGTGTGACCTTGCACAAGTTAAATTCTCTAAGGCTCAGTTTCTTCATTTATAAAATGGGGATCATATCATTAGAAAGGATTAAATGAGGCAACACATATAAAATGCTTCACCTAGTTTCTGGCACACAGCGAGCAACAACTATCAGCTATCCTTATACTGTCTCATGCTATTAACTTTGCCTGAAATTCTCTCCCTCCTTTTCCCACTTAACCTGAATTCCTACACATCCTTTAAAAATCCGACTTAAGAATTACATCTCTCAAAACTTTCTCTGCCTTTCTTTCCTCCCAGATGGTTAATACTCTTTACTAAGTGCAATCTCTGTTTCTTGTATACTTCTACTGTAATTTATTTTATCTTTCTCCCCTACCTATGAACATCTTGAAACCATTATCAATTTCTTATTCATTCCTAAATTCTTGGTACCTAAAAAAAAGTACCCCAGTAAAGTGTTTAATGTTAAACTGAATAGGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCATGCGGATCACCTGAAGTCAGGAGTTCGAGAGCAGCATGGCCAACATGGCATAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGTCGCGCGCCTGTAATCCCAGCTACTCGGGTGGCTGGTGCAGAAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAGCTCCGTCTCAAAATATAATAAATAAATAAACAAACAAACTAAATAGGGCCTATATGCAAATCCAATTTAATTTCAAACTCTGTGTTCTTTCCACTATATCCCACCTCTTCCCCTATACCCTGATGGGCATCAACTGCTTCCGATTAGGTAGCCTGTCTTACGAGTAAAATTGCTATTTAGTGACTGTGAATTTGAAAGTAGTTTTTTTCTGACCAAACACACTGTTCATTCAGAGGTCTTTCAACAGTAAGTTTTTAACTGCGTTTATGGTACACCCCCGCTCCTCCCACCCAACTCAGCTCTGAACTGAGCTCAGAGGCGAAAAGCAGCCCTGATCCCCAGTAACTCACATTTCAGAGGAATCTCTCTTTCATGCACAACGGTGAAGGGCAGCTTCTCCTGGTCGTCCAGGGGCACTGACTCCCGCGTAAACACGACAGTGACAGGCACCATGAGGCGGAGCTACAGGAAGGAGCATCAGGGCCGTCACTGAGTCTCCACCTTGCCGGGGGGGCTGTCCCCCGACCCTCCCGCACAGCAGTCTCACGTGAAGGGCATTCAGGCCACTGATCTGGGAGTAAGGCAACGAGGCCCGGTAGGTCTCCGTGGTCTTCCACCAGAGCGGTAGCCCCAGCACGATGGCCACCGCAGCGAAGAAGAGGGCGGCGCGCTTGCCCCGGGCCACCTCTGAGGGCATGGGGAACCGACTGAGGCGCTGGAAACGGGCTAGGGTACCGGCCCCATCCCCGACGCGGAGAAGCCCCAACCACCGGCCTCCAGGGGCCCGCGTTCATTGGGATCTCCGTGCGAAGGGACCCGGCCCAAGCCTGAAGGGAATCTCGTCTGAAGAGACCCCCGAGCCCCCCGTCCGCGGGACCTCTCGCACACCACAATCCCCACCCCTGCTATTCCTCCCTTGCCATCAGCTAGCTGCAGGCCCCCCACCCGAAGCCCACCGCACCTAGGTGTGTAGCCGCAGCCCCGGCGGCCGCCATGCTAGCTTCCGGCTGCTCCGGCCACCGTGGGGGCAGAGCTTCGTGAGCCTCACCCAATCGGAATCTCTGCAACGAGGGGGCAGGACCGCGGCGGTGATCGGGGCCAATCGCGAGCGCTACTCCAGACCCGCAGACGGGAGCAAGCGGGCGAGGGGTGGGAGGGCTCCGCTGGGAGCTTCGCTGGGGATCTGAAAGGAAGTCACCCGGGCGCGGAGGGACAGCCTAGGGGCCGTGCGGGTTTCGGCGCTGCTGGAACGAAGTTCCCCGCTTCCCTGTAGAACACACTTCTAGCCCCGCAATCAAGAGCGCAACCTCTGCAGTCCTTAAATACTAGCTGGGCAACTACAGGCAGCTCCGAGGCTCATCTGAAAATGGAGATATTTACATAAATGAGGCCGTTCTTGTAAGGAGCCTGGCACACGGAAAGCCCTCAACGTCAACTGTCACGGTCTTATTATCCTTATCGTAGAACTCCTCTTAGGGTGCCCTCTCCTCAAAGCCTCAAACACGGAGGTAGCAAGCTAGTATGTTTTAGCACAATTGGCTCTCTCGCTATTTTAAAATACGTTTTAATTCATTTCCAACTTGGAAAACTCAGAATACTTCACTTAAAAATCTTGAAAAGTCATGAGCCCAGACTCTAGATGCTGATCACTGCGGTTCAAATCCTGGCTTCATCACTTATTAGGTGAGTGATCGTGAGAAGATCGTTCTGTGCCTATCTGTGCCTGTTTTCTCTATTAAAATAGGGATGATAGTAATAGTACCTACTTTATAGAGTTGTATGAAATGTGTCAGTACATATAAAGTGATTAGAACAGGGTTGGTGCTATGTGCAAGCTATTTTTGTTATTATAAAGTCAGGCCACACAGGGTGGAGCATTTGTAGCCTCCCCAGTTGACACAGAACACACGCAGCTTGTTATCTCTTCTTTTTATCTGCTTAGACCCAGGTTCTCAGCCTACCTCACAACCCAGCCCAGTGGTTAAAGTTCAGCATCAGGCCTCACCAGAGCTGTCCTTACCCAGACCCTCCAATTGGCTCCCTTTGTGCCCACTTCTACCCCAAATGAAAATGGGCCATAGCCCTTGGCAACCTCCTAGATGCCCTGCTCAGCCCTGGCAGCCCGCAGAGCCTTGGTTTTCCTCTTTGGGCGGGAGTCCAGGTGCTCGCTTGCCCTTACTGGTGTGGCTCACCCTAGTGGAAGGTACCAGGTCCCAGCTGGGCTTAACACTGCGAGATGGGAGAGACTCCCACCCACTCTTATCCCAGCCTGTCTTGCTGCCTCCCTGCTTTGAGCCTTGCACAAATCTGCCTTCAGGAGTTGCCAGTTTGGCCTCACTCCATACTTCTGTAGCTGCAGCCCAGTGCCACTGATGTGGCAGTCCCTAGAAGACTTGCAGTCTTCCTCATTGCCCCACTCCAGACTTGGACATCAAGAGAGCAAGAGCCTGAGCTGGGGATGGTGACTGCATGTGCCCTTCCTCCATAACTTGAAGCCCAGTAAGACTCAAATCCCACCCTCTCCACCTCCAGAGTCAGAGGGCCCAGAGATAGAATTAGCAGAGATCAGAAACTGGGAGGTGGGAATTTGATGTG 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Task1_train_23891 | This alteration occurs within gene NEK8 (NIMA related kinase 8) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Renal-hepatic-pancreatic dysplasia 2 | TTGGGTGGAGATGGGGTTTCACCATTTTGGCCAGGTTGTTCTCAAATTCCTGACCTCAAATGCTCCACCCACCTCGGCCTCCCAAAGTGTTAGTATTACAAGTGTGAGCCATTTCGCCCGGCCTAGGCTGATTTTCAAGTGTCTGTTTTTTTGTTGTTTTGTTTTGAGACCATCTCACTTGGTCACCCAGGCTGGAGTGCAGTGGCGCAATCATGGCTAACTGTATCTTCAATGTCCTAGGCTCAGGTGATCCTCCCACCTCATCCTCCAGAGCAGCTGGGACCACAGAGGCTTGCCACCATGCTCAGCTAATTTTTTTTTTTTTTTTTTTTTGCGAGAGTGGGTTTCACCATGTTGCTCAGGCTGGTCTTGAACGCCTGGACTCAAGTGATCTACCTGCCTTGGCCTCCCAAAGTGCTGAGATCACAGGCCTTAGCCACTTGGCCCTGCCTCAGGTTTCTGATTTTAGCAGTTTCTGATTTTAATAACTGGAGGATGATGGTAGCATTTACTGAGATGGAAGAGACTGAGCAAGGAAAGGTTTGGAGGCAGGAATCAAGAGTTTTATTTTGAATTTGTTAAAATTTAGGATGACTGTGAGCCATTCAAGTGGATATCTGAGTCTAGGGTTCAGAAGAGAAGCCTGATCTGGAGGTAAAAATTTGAGACTTAGATCAGCTTATAGTCCACTCATTCAACAAATACTTATTGACTGCCTATTGTGTGCTAAATATTGGGCTATGCACTGGGGTTATTGTGGTGAACAAGAATGTTGTAGTCCCTGCTTTTATGGAGACTAACCACAGAATTAAAATAAAATAATATGAATGGCTTCTATTCATTGAGCGTTTTCTTTGTGCTGGTCACTGCACTCAGTGCCTTACATGCATTTTCTCATTCCATCCTCTCAACAACCCTGGGAGGCCCATTTCATTTTCCAGACAATGATGTCACATAATGTATCAAACCAGATAACTAGTAAGAGGAGGCACCCAGATTTGAACCCAGGCAGTCTGTGGGAACTTAGAGATCAAGACTAACTTTACCTCACAGTGCCTGTGGTGAAACTGAAGTCCCACACAGCTTGTAATCAGTTCTCCCTGTTCCCAAGTTCAGTGTTCTGTGCGCTTGGTTAGATGACCTCTCAGTCTAGAACCCTCTTCCAAGAGACATCAGTCACTAGGCTGCACCGCCCTGCCTGATATGTGGCTGGAGGCTTAGCTGGTAACCTGTCCCTGTCCTCCGTATCCCTAGGATTGTGCACCTGTGCCTGCGAAAGGCTGACCAGAAGCTGGTGATCATCAAGCAGATTCCAGTGGAACAGATGACCAAGGAAGAGCGGCAGGCAGCCCAGAATGAGTGCCAGGTCCTCAAGCTGCTCAACCACCCCAATGTCATTGAGTACTACGAGAACTTCCTGGAAGACAAAGCCCTTATGATCGCCATGGAATATGCACCAGGTGGGCCAGCCTCCTTACAGTGGCCTGGCTGGAGGGCCTCTTACCTCTGGGACAGGCAGACACAGATCTCCTGGCTTCCCTCCTTGGAATGGGCATGGCCAAGGGTTAGAGTTCTGGTCCCAATTATCTGACCCCGGCTAGCCCCTTGTCCTCTCTGGTCCCAGTGCCCTGTTCCATACATAAAAGGAGAGGGGTTGTTGGCTGGGCACGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCAACGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGTTTAACACGGGGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTAGTCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATGGCTTGAACCCGGGAGGGGGGGCTTGCAGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAACAACAACAACAATGGAGAGGGGTTGTCGTAGGTGTGAGAAAGCCTGGATCTTGATTAGTCCCTTGGGCCACAGGCGGCACTCTGGCTGAGTTCATCCAAAAGCGCTGTAATTCCCTGCTGGAGGAGGAGACCATCCTGCACTTCTTCGTGCAGATCCTGCTTGCACTGCATCATGTGCACACCCACCTCATCCTGCACCGAGACCTCAAGACCCAGAACATCCTGCTTGACAAACACCGCATGGTCGTCAAGATCGGTGATTTCGGCATCTCCAAGATCCTTAGCAGCAAGAGCAAGGCCTACACGGTGCCTGGGCATGGAAGGGACCTCCAGGGCACTAGAAGTCTTGAGGGCCAGGACCTAACCCTGCCTCCTCCCCTCCCCCTAAAAAACCCTTGGCCCTTTGGCCCCTGTTTGGGTGGTTCTGCAGGAGGAAGCCCCTTGGCTTGCTTTGAGAAGAAGCTGTCCCCAAATGGGCTTATGCACAGAGCCCCTGGTCTTCCCTCCCTGCAGGGCTGTGATCCCAGCTTCTATCCTGCAGGTGGTGGGTACCCCATGCTATATCTCCCCTGAGCTGTGTGAGGGCAAGCCCTACAACCAGAAGAGTGACATCTGGGCCCTGGGCTGTGTCCTCTACGAGCTGGCCAGCCTCAAGAGGGCTTTCGAGGCTGCGGTGAGTGTATGCACCCTCCAGGGGACAACTGAGAAATCTACTGCCTCGCCCAGCAGCCCTTGGCTCAAGCCACCTCAGGTTTCTCCTCTAGCTGAGTCATGTCTCTCCCTTATCAGATTACCCCAGGGGAGGGCTATGGGTGTCCCTCAGACTATGGATTTCTGAGAGTAGGTCTTGCCTCCCATTAGACGGAGGGCTCCTGAGGGCAGGGCTGTGGCTTTCCCAGAAGACCCTCCCAAGAGCAAGACTTGAGTTTTCCCAGCATGCTGGGGTTTCTGAGGATATAGCTGCAGCTCCCCTATCAGACTAGGGATCACTGAAAGCCAGGTTGGACTCCCCTGTCAGTCTGGGAGTCTCCTCATCAGACTGAAGTCTCCTGAGGGCAAAGCTGTTATTGTTTATTTATTTATTTTTTTTATTATACTTTAAGTTTTAGGGCACATGTACACAACGTGCAGGTTTGATACGTATGTATACATGTGCGATGTTGGTGTGCTGCACCCATTAACTCATCATTTAACATTAGGTATATCTCCTAATGCTATCCCTTCCCCCTCCCCCCACCCCACAACAGGCCCCGGTGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGAACATGCGGTGTTTGGTTTTTTGTCCTTGCGATAGTTTGCTGAGAATGATGGTTTCCAGCTCCATCCATGTCCTACAAAGGACATGAACTCATCATTTTTTACGGCTGCATAGTTTTCCATGGTGTGTATGTGCCACGTTTTCTTAATCCATCTATCATTGTTGGACATTTAGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCACAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAATCCTTTGGGTATACACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACTTGTTGTTTCCTGACTTTTTAAAGATCACCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTCTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATATCCTTCGCCCACTTGTTGATGGGGTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCTTTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGATTGCAAAAATCTTCTCCCATTCTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTT 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TTGGGTGGAGATGGGGTTTCACCATTTTGGCCAGGTTGTTCTCAAATTCCTGACCTCAAATGCTCCACCCACCTCGGCCTCCCAAAGTGTTAGTATTACAAGTGTGAGCCATTTCGCCCGGCCTAGGCTGATTTTCAAGTGTCTGTTTTTTTGTTGTTTTGTTTTGAGACCATCTCACTTGGTCACCCAGGCTGGAGTGCAGTGGCGCAATCATGGCTAACTGTATCTTCAATGTCCTAGGCTCAGGTGATCCTCCCACCTCATCCTCCAGAGCAGCTGGGACCACAGAGGCTTGCCACCATGCTCAGCTAATTTTTTTTTTTTTTTTTTTTTGCGAGAGTGGGTTTCACCATGTTGCTCAGGCTGGTCTTGAACGCCTGGACTCAAGTGATCTACCTGCCTTGGCCTCCCAAAGTGCTGAGATCACAGGCCTTAGCCACTTGGCCCTGCCTCAGGTTTCTGATTTTAGCAGTTTCTGATTTTAATAACTGGAGGATGATGGTAGCATTTACTGAGATGGAAGAGACTGAGCAAGGAAAGGTTTGGAGGCAGGAATCAAGAGTTTTATTTTGAATTTGTTAAAATTTAGGATGACTGTGAGCCATTCAAGTGGATATCTGAGTCTAGGGTTCAGAAGAGAAGCCTGATCTGGAGGTAAAAATTTGAGACTTAGATCAGCTTATAGTCCACTCATTCAACAAATACTTATTGACTGCCTATTGTGTGCTAAATATTGGGCTATGCACTGGGGTTATTGTGGTGAACAAGAATGTTGTAGTCCCTGCTTTTATGGAGACTAACCACAGAATTAAAATAAAATAATATGAATGGCTTCTATTCATTGAGCGTTTTCTTTGTGCTGGTCACTGCACTCAGTGCCTTACATGCATTTTCTCATTCCATCCTCTCAACAACCCTGGGAGGCCCATTTCATTTTCCAGACAATGATGTCACATAATGTATCAAACCAGATAACTAGTAAGAGGAGGCACCCAGATTTGAACCCAGGCAGTCTGTGGGAACTTAGAGATCAAGACTAACTTTACCTCACAGTGCCTGTGGTGAAACTGAAGTCCCACACAGCTTGTAATCAGTTCTCCCTGTTCCCAAGTTCAGTGTTCTGTGCGCTTGGTTAGATGACCTCTCAGTCTAGAACCCTCTTCCAAGAGACATCAGTCACTAGGCTGCACCGCCCTGCCTGATATGTGGCTGGAGGCTTAGCTGGTAACCTGTCCCTGTCCTCCGTATCCCTAGGATTGTGCACCTGTGCCTGCGAAAGGCTGACCAGAAGCTGGTGATCATCAAGCAGATTCCAGTGGAACAGATGACCAAGGAAGAGCGGCAGGCAGCCCAGAATGAGTGCCAGGTCCTCAAGCTGCTCAACCACCCCAATGTCATTGAGTACTACGAGAACTTCCTGGAAGACAAAGCCCTTATGATCGCCATGGAATATGCACCAGGTGGGCCAGCCTCCTTACAGTGGCCTGGCTGGAGGGCCTCTTACCTCTGGGACAGGCAGACACAGATCTCCTGGCTTCCCTCCTTGGAATGGGCATGGCCAAGGGTTAGAGTTCTGGTCCCAATTATCTGACCCCGGCTAGCCCCTTGTCCTCTCTGGTCCCAGTGCCCTGTTCCATACATAAAAGGAGAGGGGTTGTTGGCTGGGCACGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCAACGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGTTTAACACGGGGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTAGTCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATGGCTTGAACCCGGGAGGGGGGGCTTGCAGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAACAACAACAACAATGGAGAGGGGTTGTCGTAGGTGTGAGAAAGCCTGGATCTTGATTAGTCCCTTGGGCCACAGGCGGCGCTCTGGCTGAGTTCATCCAAAAGCGCTGTAATTCCCTGCTGGAGGAGGAGACCATCCTGCACTTCTTCGTGCAGATCCTGCTTGCACTGCATCATGTGCACACCCACCTCATCCTGCACCGAGACCTCAAGACCCAGAACATCCTGCTTGACAAACACCGCATGGTCGTCAAGATCGGTGATTTCGGCATCTCCAAGATCCTTAGCAGCAAGAGCAAGGCCTACACGGTGCCTGGGCATGGAAGGGACCTCCAGGGCACTAGAAGTCTTGAGGGCCAGGACCTAACCCTGCCTCCTCCCCTCCCCCTAAAAAACCCTTGGCCCTTTGGCCCCTGTTTGGGTGGTTCTGCAGGAGGAAGCCCCTTGGCTTGCTTTGAGAAGAAGCTGTCCCCAAATGGGCTTATGCACAGAGCCCCTGGTCTTCCCTCCCTGCAGGGCTGTGATCCCAGCTTCTATCCTGCAGGTGGTGGGTACCCCATGCTATATCTCCCCTGAGCTGTGTGAGGGCAAGCCCTACAACCAGAAGAGTGACATCTGGGCCCTGGGCTGTGTCCTCTACGAGCTGGCCAGCCTCAAGAGGGCTTTCGAGGCTGCGGTGAGTGTATGCACCCTCCAGGGGACAACTGAGAAATCTACTGCCTCGCCCAGCAGCCCTTGGCTCAAGCCACCTCAGGTTTCTCCTCTAGCTGAGTCATGTCTCTCCCTTATCAGATTACCCCAGGGGAGGGCTATGGGTGTCCCTCAGACTATGGATTTCTGAGAGTAGGTCTTGCCTCCCATTAGACGGAGGGCTCCTGAGGGCAGGGCTGTGGCTTTCCCAGAAGACCCTCCCAAGAGCAAGACTTGAGTTTTCCCAGCATGCTGGGGTTTCTGAGGATATAGCTGCAGCTCCCCTATCAGACTAGGGATCACTGAAAGCCAGGTTGGACTCCCCTGTCAGTCTGGGAGTCTCCTCATCAGACTGAAGTCTCCTGAGGGCAAAGCTGTTATTGTTTATTTATTTATTTTTTTTATTATACTTTAAGTTTTAGGGCACATGTACACAACGTGCAGGTTTGATACGTATGTATACATGTGCGATGTTGGTGTGCTGCACCCATTAACTCATCATTTAACATTAGGTATATCTCCTAATGCTATCCCTTCCCCCTCCCCCCACCCCACAACAGGCCCCGGTGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGAACATGCGGTGTTTGGTTTTTTGTCCTTGCGATAGTTTGCTGAGAATGATGGTTTCCAGCTCCATCCATGTCCTACAAAGGACATGAACTCATCATTTTTTACGGCTGCATAGTTTTCCATGGTGTGTATGTGCCACGTTTTCTTAATCCATCTATCATTGTTGGACATTTAGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCACAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAATCCTTTGGGTATACACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACTTGTTGTTTCCTGACTTTTTAAAGATCACCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTCTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATATCCTTCGCCCACTTGTTGATGGGGTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCTTTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGATTGCAAAAATCTTCTCCCATTCTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTT 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Task1_train_23892 | Mutation context: Chromosome 17, Gene NEK8 (NIMA related kinase 8). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Nephronophthisis 9 | CTTTGTCAGATGAGTAGATTGCAAAAATCTTCTCCCATTCTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTAGACATGAAGTCCTTGCCCATGCCTATGTCCTGAATGGTATTGCCTAGGTATTCTTCTAGGGGTTTGATGGTTTTAGGTCTAACATGTAAGTCTTTAGTCCATCTTGAATTAATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTTCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATGTGTGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGGTCTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTAGCATGATGCCTCCAGGCAAAGCTGTTATTATCCCAGGAGACCAGGGGCTGGAGCTGGGGGGTGCTGCCCTCACTTCCCCAAATTCTCAACCTGGTGCCTTCACAGAACTTGCCAGCACTGGTGCTGAAGATCATGAGTGGCACCTTTGCACCTATCTCTGACCGGTACAGCCCTGAGCTTCGCCAGCTGGTCCTGAGTCTACTCAGCCTGGAGCCTGCCCAGCGGCCACCACTCAGCCACATCATGGCACAGCCCCTCTGCATCCGTGCCCTCCTCAACCTCCACACCGACGTGGGCAGTGTCCGCATGCGGAGGCCTGTGCAGGGACAGCGAGCGGTCCTGGGCGGCAGGGTGTGGGCACCCAGTGGGAGCACAGGAGGTCTGAGGCAGAGGGAAACCTGGGGCAAGTCCTCCCTTCCTGCATGTAGGAATGTCAGGAGGGTCTTTGTCCTTAGGCCCCCATCTGTCCTGCAGGGCAGAGAAGTCCGTGGCCCCCAGCAACACAGGGAGCAGGACCACCAGTGTCCGCTGCAGAGGTAAGTGGGAAGAGGCCGCCAGTCCCCATGGATGCCACACCATTCCCATCAGTTTAATAGTCCCCATGCACTGTACCTGCAGGTATCCCCCGGGGACCTGTGAGGCCAGCCATCCCACCACCACTGTCGTCAGTGTATGCCTGGGGTGGTGGGCTGGGCACCCCCCTGCGGCTGCCAATGCTCAACACAGAGGTGGTCCAGGTGGCAGCTGGGCGCACGCAGAAAGCCGGCGTCACGCGCTCTGGGCGTCTCATCCTGTGGGAGGTGAGCAGGCCAGGGGGTGGCCTGGATGGGTGGAGGTGGAGGTCCACAGCAGGGTTGGGGTGCTCAGGCGCTGCCCATCCCCCTGCCCCTGCAGGCCCCACCCCTAGGTGCAGGCGGAGGCAGTCTCCTTCCTGGGGCAGTGGAGCAGCCACAGCCCCAGTTCATCTCGCGTTTCCTGGAGGGCCAGTCGGGTGTGACCATCAAGCACGTGGCCTGTGGGGACTTCTTCACTGCCTGCCTGACTGGTGAGTTGTCGGGCCTACCTTGTGGGACCTGCTCTGAGGCCCCACAGAGCACCTTCTCTCTTCTCTTGCAAAACACGCACTTAATGAATGCTTCTGTCTACTAGTTATCGAGTTATTGCTTCTGTCTAGTAACTATTGAGGAGATTTCCTTATACAACCTCCTTTACCCTACGGACAGGCCTGGCAAGGCAGTTATTATATTATCCTCATTTGACAAGTGGGGACGCTAAGGCTCAGAGAGGGTGTCACTTGTCCAAAGTCACATATGTTTGAAGGGACTCATATCCTTTTCTCTCTTCCTATCCCATCCTTCCAGCCCTGGTCCCCAACTTTATTTTGCTGCTGCAACCCACTGGAGGACCGGGCTATCTGGAAAGACTGTTTAACTTCTTTCCCTTCTCCTTCCTCACTGCCCTTCTCCCCAGACAGAGGCATCATCATGACATTCGGCAGCGGCAGCAATGGGTGCCTAGGCCATGGCAGCCTCACTGACATCAGCCAGGTGGGTGTCACATATACCTTGGGAAGGGGAAGTCGGGGGATGGCGGGGAGCCCACATCTGTGAGTTGACACCAGATTGGGGGCAGGGGAGTTCCCAGCAACCACAGGTTCCTCTAGCTTCCCAGCTGCACCTGCTCTGGGCCACCTACATCGGGGAAAGTACAGAAAAACCAGGCTTCCCCAATGGTTGCCCACCTGGCAGTGTGTATGGCTGGATTTAAAGACACAGCCACCTCCTGAGAATGTGTAGCCTCCAGCTTTGTCCCTACAGGGGGTGTTGAAGCCAGATGGCTCCAGACCCTTTGCCCAGTTTCTCCTTGCTTCCTCTCCTCTCTAGCCCACCATTGTGGAGGCTTTGCTGGGCTATGAAATGGTGCAGGTGGCCTGTGGGGCCTCTCACGTGCTGGCCCTGTCCACTGAGCGAGAACTATTTGCCTGGGGCCGTGGAGACAGCGGTAAGCTCCAGCCTTTAGGCCCCATCTCACAGCATCCTCAGCCATGACTTGCTCCCCTTCATACCCACCTTCCACCTCACAGCACATTCTCTCTTCCCTCTTTTCTCTCAAATTCTCTTCATTCATTCAACAAACCTTTATTTTACACCGACTATGTGCACACCCTGTGCTGGGTGCTGAGATGAGATGGAGATGTGGCTTCCTTCAGGTGTTTATGAGGTAATGAAGGAAATTTCATTCATCCACCTAGTTTTTTATTTTATTTTGAGATGGAGTCTCGCTCTGTTACCCAGGCTAGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCACCACCGGGTTCAAGCGAATCTCCTGCCTCAGCCTCCCAAGTAGCTGGCATTACAGGCACCCGCCACCGCGCCCAGCAAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCCATCCACTAATTTTTTTTATTGAGGTCCTCTTTGGGTCAGGCATCAGGCTGGCCACTGAAACTAGAGATGACACTGATGGGTTCTTGTCTTCCTGGAGGACTCAGTCTAGTGGGAGAAAGATGACATTGCCAGCATGCCAGAGAACAGATAGCATCAGGGCTACACCCCAGTGCAGAGGCGTGGAATTCAGTGAACAGTAATGTCAACTGGAGGAGAGAGATGTCATTTGAACAGGGCTTTAAAGGAGGAGGATTTTGAGCCGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATAAAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCGGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGTGAAGATCATACCCTTGTACTCCAGCCTTGGCGACAGAGTGAGACTCAGTCTCGAAAAATAAAAATAAAAAATAAAGAAGGAGGATTTTAACCAGCAGAGGGGCCTAGGAAAGGCATTTGGGACTGAGAGAACAGAGAACTCATGCTGTTCCCTCCCCTCAGTGGGCCCTCCTCATTCGGGCATCACCCCCACTAAAGCTCAAATTAACTCCTTCTGGGTTTCTTCTTGTAGGCAGACTGGGGCTAGGCACCAGGGAGTCCCACAGCTGCCCCCAGCAGGTGCCCATGCCCCCAGGACAGGAAGCTCAGCGAGTTGTATGTGGTATCGATTCCTCCATGATCCTCACTGTGCCTGGCCAAGCCCTAGCCTGTGGGAGCAACAGGTGAATAGATCATCAGGATGACTAACCTGCCCCTGGCTCTCCTTGGCTGCAAGTGCTCCGTCCATCATTGCCTACCTTTCACCAAAGACCAGAATTGAGGGGGTTGAGGGTGCTATTGGTTCAACCCAGGGTGGGATCTGTCTCCTGGTGCACCA 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CTTTGTCAGATGAGTAGATTGCAAAAATCTTCTCCCATTCTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTAGACATGAAGTCCTTGCCCATGCCTATGTCCTGAATGGTATTGCCTAGGTATTCTTCTAGGGGTTTGATGGTTTTAGGTCTAACATGTAAGTCTTTAGTCCATCTTGAATTAATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTTCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATGTGTGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGGTCTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTAGCATGATGCCTCCAGGCAAAGCTGTTATTATCCCAGGAGACCAGGGGCTGGAGCTGGGGGGTGCTGCCCTCACTTCCCCAAATTCTCAACCTGGTGCCTTCACAGAACTTGCCAGCACTGGTGCTGAAGATCATGAGTGGCACCTTTGCACCTATCTCTGACCGGTACAGCCCTGAGCTTCGCCAGCTGGTCCTGAGTCTACTCAGCCTGGAGCCTGCCCAGCGGCCACCACTCAGCCACATCATGGCACAGCCCCTCTGCATCCGTGCCCTCCTCAACCTCCACACCGACGTGGGCAGTGTCCGCATGCGGAGGCCTGTGCAGGGACAGCGAGCGGTCCTGGGCGGCAGGGTGTGGGCACCCAGTGGGAGCACAGGAGGTCTGAGGCAGAGGGAAACCTGGGGCAAGTCCTCCCTTCCTGCATGTAGGAATGTCAGGAGGGTCTTTGTCCTTAGGCCCCCATCTGTCCTGCAGGGCAGAGAAGTCCGTGGCCCCCAGCAACACAGGGAGCAGGACCACCAGTGTCCGCTGCAGAGGTAAGTGGGAAGAGGCCGCCAGTCCCCATGGATGCCACACCATTCCCATCAGTTTAATAGTCCCCATGCACTGTACCTGCAGGTATCCCCCGGGGACCTGTGAGGCCAGCCATCCCACCACCACTGTCGTCAGTGTATGCCTGGGGTGGTGGGCTGGGCACCCCCCTGCGGCTGCCAATGCTCAACACAGAGGTGGTCCAGGTGGCAGCTGGGCGCACGCAGAAAGCCGGCGTCACGCGCTCTGGGCGTCTCATCCTGTGGGAGGTGAGCAGGCCAGGGGGTGGCCTGGATGGGTGGAGGTGGAGGTCCACAGCAGGGTTGGGGTGCTCAGGCGCTGCCCATCCCCCTGCCCCTGCAGGCCCCACCCCTAGGTGCAGGCGGAGGCAGTCTCCTTCCTGGGGCAGTGGAGCAGCCACAGCCCCAGTTCATCTCGCGTTTCCTGGAGGGCCAGTCGGGTGTGACCATCAAGCACGTGGCCTGTGGGGACTTCTTCACTGCCTGCCTGACTGGTGAGTTGTCGGGCCTACCTTGTGGGACCTGCTCTGAGGCCCCACAGAGCACCTTCTCTCTTCTCTTGCAAAACACGCACTTAATGAATGCTTCTGTCTACTAGTTATCGAGTTATTGCTTCTGTCTAGTAACTATTGAGGAGATTTCCTTATACAACCTCCTTTACCCTACGGACAGGCCTGGCAAGGCAGTTATTATATTATCCTCATTTGACAAGTGGGGACGCTAAGGCTCAGAGAGGGTGTCACTTGTCCAAAGTCACATATGTTTGAAGGGACTCATATCCTTTTCTCTCTTCCTATCCCATCCTTCCAGCCCTGGTCCCCAACTTTATTTTGCTGCTGCAACCCACTGGAGGACCGGGCTATCTGGAAAGACTGTTTAACTTCTTTCCCTTCTCCTTCCTCACTGCCCTTCTCCCCAGACAGAGGCATCATCATGACATTCGGCAGCGGCAGCAATGGGTGCCTAGGCTATGGCAGCCTCACTGACATCAGCCAGGTGGGTGTCACATATACCTTGGGAAGGGGAAGTCGGGGGATGGCGGGGAGCCCACATCTGTGAGTTGACACCAGATTGGGGGCAGGGGAGTTCCCAGCAACCACAGGTTCCTCTAGCTTCCCAGCTGCACCTGCTCTGGGCCACCTACATCGGGGAAAGTACAGAAAAACCAGGCTTCCCCAATGGTTGCCCACCTGGCAGTGTGTATGGCTGGATTTAAAGACACAGCCACCTCCTGAGAATGTGTAGCCTCCAGCTTTGTCCCTACAGGGGGTGTTGAAGCCAGATGGCTCCAGACCCTTTGCCCAGTTTCTCCTTGCTTCCTCTCCTCTCTAGCCCACCATTGTGGAGGCTTTGCTGGGCTATGAAATGGTGCAGGTGGCCTGTGGGGCCTCTCACGTGCTGGCCCTGTCCACTGAGCGAGAACTATTTGCCTGGGGCCGTGGAGACAGCGGTAAGCTCCAGCCTTTAGGCCCCATCTCACAGCATCCTCAGCCATGACTTGCTCCCCTTCATACCCACCTTCCACCTCACAGCACATTCTCTCTTCCCTCTTTTCTCTCAAATTCTCTTCATTCATTCAACAAACCTTTATTTTACACCGACTATGTGCACACCCTGTGCTGGGTGCTGAGATGAGATGGAGATGTGGCTTCCTTCAGGTGTTTATGAGGTAATGAAGGAAATTTCATTCATCCACCTAGTTTTTTATTTTATTTTGAGATGGAGTCTCGCTCTGTTACCCAGGCTAGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCACCACCGGGTTCAAGCGAATCTCCTGCCTCAGCCTCCCAAGTAGCTGGCATTACAGGCACCCGCCACCGCGCCCAGCAAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCCATCCACTAATTTTTTTTATTGAGGTCCTCTTTGGGTCAGGCATCAGGCTGGCCACTGAAACTAGAGATGACACTGATGGGTTCTTGTCTTCCTGGAGGACTCAGTCTAGTGGGAGAAAGATGACATTGCCAGCATGCCAGAGAACAGATAGCATCAGGGCTACACCCCAGTGCAGAGGCGTGGAATTCAGTGAACAGTAATGTCAACTGGAGGAGAGAGATGTCATTTGAACAGGGCTTTAAAGGAGGAGGATTTTGAGCCGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATAAAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCGGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGTGAAGATCATACCCTTGTACTCCAGCCTTGGCGACAGAGTGAGACTCAGTCTCGAAAAATAAAAATAAAAAATAAAGAAGGAGGATTTTAACCAGCAGAGGGGCCTAGGAAAGGCATTTGGGACTGAGAGAACAGAGAACTCATGCTGTTCCCTCCCCTCAGTGGGCCCTCCTCATTCGGGCATCACCCCCACTAAAGCTCAAATTAACTCCTTCTGGGTTTCTTCTTGTAGGCAGACTGGGGCTAGGCACCAGGGAGTCCCACAGCTGCCCCCAGCAGGTGCCCATGCCCCCAGGACAGGAAGCTCAGCGAGTTGTATGTGGTATCGATTCCTCCATGATCCTCACTGTGCCTGGCCAAGCCCTAGCCTGTGGGAGCAACAGGTGAATAGATCATCAGGATGACTAACCTGCCCCTGGCTCTCCTTGGCTGCAAGTGCTCCGTCCATCATTGCCTACCTTTCACCAAAGACCAGAATTGAGGGGGTTGAGGGTGCTATTGGTTCAACCCAGGGTGGGATCTGTCTCCTGGTGCACCA 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Task1_train_23893 | This mutation occurs in NEK8 (NIMA related kinase 8) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Renal-hepatic-pancreatic dysplasia 2 | TGGCTCCAGACCCTTTGCCCAGTTTCTCCTTGCTTCCTCTCCTCTCTAGCCCACCATTGTGGAGGCTTTGCTGGGCTATGAAATGGTGCAGGTGGCCTGTGGGGCCTCTCACGTGCTGGCCCTGTCCACTGAGCGAGAACTATTTGCCTGGGGCCGTGGAGACAGCGGTAAGCTCCAGCCTTTAGGCCCCATCTCACAGCATCCTCAGCCATGACTTGCTCCCCTTCATACCCACCTTCCACCTCACAGCACATTCTCTCTTCCCTCTTTTCTCTCAAATTCTCTTCATTCATTCAACAAACCTTTATTTTACACCGACTATGTGCACACCCTGTGCTGGGTGCTGAGATGAGATGGAGATGTGGCTTCCTTCAGGTGTTTATGAGGTAATGAAGGAAATTTCATTCATCCACCTAGTTTTTTATTTTATTTTGAGATGGAGTCTCGCTCTGTTACCCAGGCTAGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCACCACCGGGTTCAAGCGAATCTCCTGCCTCAGCCTCCCAAGTAGCTGGCATTACAGGCACCCGCCACCGCGCCCAGCAAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCCATCCACTAATTTTTTTTATTGAGGTCCTCTTTGGGTCAGGCATCAGGCTGGCCACTGAAACTAGAGATGACACTGATGGGTTCTTGTCTTCCTGGAGGACTCAGTCTAGTGGGAGAAAGATGACATTGCCAGCATGCCAGAGAACAGATAGCATCAGGGCTACACCCCAGTGCAGAGGCGTGGAATTCAGTGAACAGTAATGTCAACTGGAGGAGAGAGATGTCATTTGAACAGGGCTTTAAAGGAGGAGGATTTTGAGCCGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATAAAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCGGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGTGAAGATCATACCCTTGTACTCCAGCCTTGGCGACAGAGTGAGACTCAGTCTCGAAAAATAAAAATAAAAAATAAAGAAGGAGGATTTTAACCAGCAGAGGGGCCTAGGAAAGGCATTTGGGACTGAGAGAACAGAGAACTCATGCTGTTCCCTCCCCTCAGTGGGCCCTCCTCATTCGGGCATCACCCCCACTAAAGCTCAAATTAACTCCTTCTGGGTTTCTTCTTGTAGGCAGACTGGGGCTAGGCACCAGGGAGTCCCACAGCTGCCCCCAGCAGGTGCCCATGCCCCCAGGACAGGAAGCTCAGCGAGTTGTATGTGGTATCGATTCCTCCATGATCCTCACTGTGCCTGGCCAAGCCCTAGCCTGTGGGAGCAACAGGTGAATAGATCATCAGGATGACTAACCTGCCCCTGGCTCTCCTTGGCTGCAAGTGCTCCGTCCATCATTGCCTACCTTTCACCAAAGACCAGAATTGAGGGGGTTGAGGGTGCTATTGGTTCAACCCAGGGTGGGATCTGTCTCCTGGTGCACCAGCTCCTGCCCAAACTGTCTGTCAGTTGGATTTGGCTTCTGGCTCTGCCCTCAGGTTCAACAAGCTGGGCCTGGACCACCTCTCCCTGGGGGAGGAGCCTGTCCCCCACCAGCAAGTGGAGGAGGCCCTGAGCTTCACACTACTAGGCTCTGCACCCCTGGACCAGGAGCCTCTGCTGAGTATAGACCTGGGCACTGCTCACTCAGCTGCTGTGACTGGTGAGGAGGACTTGGGCTCTGGAGGTCAGAGGGGGACTCACGGTCTCCTTGGTACCCTGTTGAAGCACCCCTTTCCTTCCTCTCCCCCATAGCCTCGGGTGATTGCTACACTTTTGGCAGCAATCAGCACGGACAGTTGGGCACCAATACTCGCCGAGGCAGTCGGGCACCCTGTAAGGTCCAAGGCCTTGAGGGCATCAAGATGGCAATGGTAGCCTGTGGGGATGCCTTCACTGTAGCTATTGGGGCAGGTGAGGACTGAGCATGGTGGGGGCAGACAGTGCCATGAGCAGTGGGGGGTGGGGGTTGCTATTCAGGGCCACTGGACTCTGGAGCCTCCCAGGGGCCATCCTGGCAATGTGGGAGGGGAGATCCTGCTCGGGCTGTGCCCACTTCCCACTTCCCTCCTGGGGATTCTTCCTGGCAGAGAGCGAAGTGTACTCTTGGGGCAAAGGGGCGCGAGGTCGATTGGGAAGGAGGGATGAGGATGCCGGACTCCCTCGGCCAGTGCAGTTGGATGAGACACACCCTTACACGGTGACTTCCGTGTCCTGTTGCCATGGAAACACCCTCCTGGCTGTTCGATGTGAGTTGTAACTTTTCCCACTTCACCACACAGCCCAGCTGGCCCCTGTCCACACTCCCATCCCCAGTGTTCACAGATGGCCACATCACCAAAAGCATCTTTAGCCCCCAGATAAAAAAAGCAGAAGCTGCGGTTGAAAAGCTTCAAGCTTCCTGCCTGGGGTGGCCAAGGCTGGTGCTTCTTGGGCCTCATGGAAGGGCTGCCTCCACTGCTCCCCAGGGCTCACATGCATTCTTTCTCCTACTGCTGAGTCCCGTTGATGCTGAAACTCTCTTTCTGGCCTAACAGGGTCCAGAATCCAGGGCCCAGTGGGAGTGGGAGGTGGGTGATGATTTCTGGAGGCACTGCCCTCAGAAGCTGCAAGGGTTTCTCTTCGGTACCCTCCAGCGGTCACAGATGAGCCGGTCCCCCCCTGAGGCACCCGGATTCACCTCTGGACCACCCTGATATTGCTTCTCCTCTGAATGCTCTGAAAAGTGCAGGTGCCCAAGGCATGACTTGCAGCTGTCTCCTGGATTGTGTCATCATGGGGTATCAGGGCTGGCAAAACCCCTGCTCTGCTTTTGGCCTTGGATATGGAAACCTCAACCACTTTGTTCTCCTACCACCTCTTTGCCCTTCCTACCCCTTCCTCCCTTCAGTCAGTGTCCCCAGGGTCCAGCCTGGCTAGAGTTAGAAGGCAGACCTAGCCTTTGGAAGCAGGGTGGCCTCCAGAGCCTTGCCATAAAAAGGCTGAAGGCAGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATGGCGTAAACCCCTCCAGCCTGGGCGACAGAACCAGACTCCGTCTCAAAAAAAAAAAAAAAACAAAAAAGGCTGAAGGCAGCTGTAGCTCCACACAGACCCTACCCTTTCCCCTAGCCCAGTTAGAAAATAAGTCTGGGCCGGCGGCGGTGGCTCACACCTGCATAGGCAGTGCTTTGGCCAGGAGGATCCCTTGATCCCTTGTGGCCAGGAGTTGGGAGACCAGCCTGGGGACCATAGCGAGACCGCTGTCTCCACCAAAAAAAAAAAAAAAGAAGAAAATAAGGCTGGGTGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGTAGACTGAGGCCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAACCAGGCATGGTGACGGGCGCCTGTAATCCCAGCTACTCTGGAGGCTAAGGCAAGAGAATCCCTTGAACCCGGGAGGTGAAGTTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGATGACAGAGCAAGTCTCCCTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTATTTGGTGCTTACCGGGACTCTATCT 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TGGCTCCAGACCCTTTGCCCAGTTTCTCCTTGCTTCCTCTCCTCTCTAGCCCACCATTGTGGAGGCTTTGCTGGGCTATGAAATGGTGCAGGTGGCCTGTGGGGCCTCTCACGTGCTGGCCCTGTCCACTGAGCGAGAACTATTTGCCTGGGGCCGTGGAGACAGCGGTAAGCTCCAGCCTTTAGGCCCCATCTCACAGCATCCTCAGCCATGACTTGCTCCCCTTCATACCCACCTTCCACCTCACAGCACATTCTCTCTTCCCTCTTTTCTCTCAAATTCTCTTCATTCATTCAACAAACCTTTATTTTACACCGACTATGTGCACACCCTGTGCTGGGTGCTGAGATGAGATGGAGATGTGGCTTCCTTCAGGTGTTTATGAGGTAATGAAGGAAATTTCATTCATCCACCTAGTTTTTTATTTTATTTTGAGATGGAGTCTCGCTCTGTTACCCAGGCTAGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCACCACCGGGTTCAAGCGAATCTCCTGCCTCAGCCTCCCAAGTAGCTGGCATTACAGGCACCCGCCACCGCGCCCAGCAAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCCATCCACTAATTTTTTTTATTGAGGTCCTCTTTGGGTCAGGCATCAGGCTGGCCACTGAAACTAGAGATGACACTGATGGGTTCTTGTCTTCCTGGAGGACTCAGTCTAGTGGGAGAAAGATGACATTGCCAGCATGCCAGAGAACAGATAGCATCAGGGCTACACCCCAGTGCAGAGGCGTGGAATTCAGTGAACAGTAATGTCAACTGGAGGAGAGAGATGTCATTTGAACAGGGCTTTAAAGGAGGAGGATTTTGAGCCGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATAAAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCGGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGTGAAGATCATACCCTTGTACTCCAGCCTTGGCGACAGAGTGAGACTCAGTCTCGAAAAATAAAAATAAAAAATAAAGAAGGAGGATTTTAACCAGCAGAGGGGCCTAGGAAAGGCATTTGGGACTGAGAGAACAGAGAACTCATGCTGTTCCCTCCCCTCAGTGGGCCCTCCTCATTCGGGCATCACCCCCACTAAAGCTCAAATTAACTCCTTCTGGGTTTCTTCTTGTAGGCAGACTGGGGCTAGGCACCAGGGAGTCCCACAGCTGCCCCCAGCAGGTGCCCATGCCCCCAGGACAGGAAGCTCAGCGAGTTGTATGTGGTATCGATTCCTCCATGATCCTCACTGTGCCTGGCCAAGCCCTAGCCTGTGGGAGCAACAGGTGAATAGATCATCAGGATGACTAACCTGCCCCTGGCTCTCCTTGGCTGCAAGTGCTCCGTCCATCATTGCCTACCTTTCACCAAAGACCAGAATTGAGGGGGTTGAGGGTGCTATTGGTTCAACCCAGGGTGGGATCTGTCTCCTGGTGCACCAGCTCCTGCCCAAACTGTCTGTCAGTTGGATTTGGCTTCTGGCTCTGCCCTCAGGTTCAACAAGCTGGGCCTGGACCACCTCTCCCTGGGGGAGGAGCCTGTCCCCCACCAGCAAGTGGAGGAGGCCCTGAGCTTCACACTACTAGGCTCTGCACCCCTGGACCAGGAGCCTCTGCTGAGTATAGACCTGGGCACTGCTCACTCAGCTGCTGTGACTGGTGAGGAGGACTTGGGCTCTGGAGGTCAGAGGGGGACTCACGGTCTCCTTGGTACCCTGTTGAAGCACCCCTTTCCTTCCTCTCCCCCATAGCCTCGAGTGATTGCTACACTTTTGGCAGCAATCAGCACGGACAGTTGGGCACCAATACTCGCCGAGGCAGTCGGGCACCCTGTAAGGTCCAAGGCCTTGAGGGCATCAAGATGGCAATGGTAGCCTGTGGGGATGCCTTCACTGTAGCTATTGGGGCAGGTGAGGACTGAGCATGGTGGGGGCAGACAGTGCCATGAGCAGTGGGGGGTGGGGGTTGCTATTCAGGGCCACTGGACTCTGGAGCCTCCCAGGGGCCATCCTGGCAATGTGGGAGGGGAGATCCTGCTCGGGCTGTGCCCACTTCCCACTTCCCTCCTGGGGATTCTTCCTGGCAGAGAGCGAAGTGTACTCTTGGGGCAAAGGGGCGCGAGGTCGATTGGGAAGGAGGGATGAGGATGCCGGACTCCCTCGGCCAGTGCAGTTGGATGAGACACACCCTTACACGGTGACTTCCGTGTCCTGTTGCCATGGAAACACCCTCCTGGCTGTTCGATGTGAGTTGTAACTTTTCCCACTTCACCACACAGCCCAGCTGGCCCCTGTCCACACTCCCATCCCCAGTGTTCACAGATGGCCACATCACCAAAAGCATCTTTAGCCCCCAGATAAAAAAAGCAGAAGCTGCGGTTGAAAAGCTTCAAGCTTCCTGCCTGGGGTGGCCAAGGCTGGTGCTTCTTGGGCCTCATGGAAGGGCTGCCTCCACTGCTCCCCAGGGCTCACATGCATTCTTTCTCCTACTGCTGAGTCCCGTTGATGCTGAAACTCTCTTTCTGGCCTAACAGGGTCCAGAATCCAGGGCCCAGTGGGAGTGGGAGGTGGGTGATGATTTCTGGAGGCACTGCCCTCAGAAGCTGCAAGGGTTTCTCTTCGGTACCCTCCAGCGGTCACAGATGAGCCGGTCCCCCCCTGAGGCACCCGGATTCACCTCTGGACCACCCTGATATTGCTTCTCCTCTGAATGCTCTGAAAAGTGCAGGTGCCCAAGGCATGACTTGCAGCTGTCTCCTGGATTGTGTCATCATGGGGTATCAGGGCTGGCAAAACCCCTGCTCTGCTTTTGGCCTTGGATATGGAAACCTCAACCACTTTGTTCTCCTACCACCTCTTTGCCCTTCCTACCCCTTCCTCCCTTCAGTCAGTGTCCCCAGGGTCCAGCCTGGCTAGAGTTAGAAGGCAGACCTAGCCTTTGGAAGCAGGGTGGCCTCCAGAGCCTTGCCATAAAAAGGCTGAAGGCAGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATGGCGTAAACCCCTCCAGCCTGGGCGACAGAACCAGACTCCGTCTCAAAAAAAAAAAAAAAACAAAAAAGGCTGAAGGCAGCTGTAGCTCCACACAGACCCTACCCTTTCCCCTAGCCCAGTTAGAAAATAAGTCTGGGCCGGCGGCGGTGGCTCACACCTGCATAGGCAGTGCTTTGGCCAGGAGGATCCCTTGATCCCTTGTGGCCAGGAGTTGGGAGACCAGCCTGGGGACCATAGCGAGACCGCTGTCTCCACCAAAAAAAAAAAAAAAGAAGAAAATAAGGCTGGGTGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGTAGACTGAGGCCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAACCAGGCATGGTGACGGGCGCCTGTAATCCCAGCTACTCTGGAGGCTAAGGCAAGAGAATCCCTTGAACCCGGGAGGTGAAGTTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGATGACAGAGCAAGTCTCCCTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTATTTGGTGCTTACCGGGACTCTATCT 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Task1_train_23894 | Consider this mutation in ERAL1, LOC126862526 (Era like 12S mitochondrial rRNA chaperone 1| BRD4-independent group 4 enhancer GRCh37_chr17:27185111-27186310) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Perrault syndrome 6 | TTCTTGCCATGCCTTCAAGGATGGTCTTGGAGGGATCTGGGACCTCACTGAGACTCCTTTGTTCCTGGCAGGTGTTCCCTGTTTCCAGGAAGGTGCATACTACTCGCTGCCAAGCTCTGGGGGTCATCACAGAGAAGGAGACCCAGGTGGTGGGTACCTACAAAGGGAGTCCTTGAAACAGGACAGAGGGTGAAGCTAAGAGGGTCTCCCTTACCATCAGCCTTGAAGAAAATGATGGTCACATTCATTTATGTGAGGAAAGGGGGTTTCTTTTCTTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGACGCGATCTTGGCTCACTGCAAGCTCCACCTCCCAGGTTGACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCTGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTCTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCGCGTGATCCGCCTGCCTCAGCATCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCAGGAAAGGGGGTTTCCTCTTCCTTTAGGCATGGTACAGTTCTGTCTCTACCTTGCCCTCCCCTGACATCTAGTCAGAAAGATTTCATTCTCTCGCTCTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTTCAATGGCATGATCTCAGCTCACTACAACCTCTGCCTCCCGGGTTTAAGCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCGCCACCACGCCCGGCTACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCGATTTCATTCTCTGTTTACTGCTTCCTAATCTTCCTTATATTCACAGTCATCATCTTTCTCCCAGATCCCATCAAAGCAGAATGGTAGAAACCTAAGGTCAGCCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCAAAGCAGGCGGATCACTTGAGATCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAGAAAAAAACAAAAAACAAACCTAAAGTCAATAATAGTTTGACTGAGAAGGGAGGGCAGGCTCCTGACATCACAGGTAGCCTCTCTCTGACTTCCCAGTCATAATCTTTTCTCCTGGGGTCTGGGTATCTCACTTTCCTGATTTTAGATTCTACTTGACACACCTGGCATTATCAGTCCTGGTAAACAGAAGAGGTAATGGTGGTGGAATTGGGGTGGATTGGCGGGGAGGTACTGAAAGAGGGTGGGGAGATTCCATTATAGGGGCTGGAAAACCCCTTTACCATACCACATCCCTCATCAGAAATGCCTTAGTCATAAGACCTTTCCTGACTGATGTATGTCTGTCCCTCAGGCATCACCTGGAGCTCTCTTTGTTGGAAGATCCATGGAAGAGCATGGAATCTGCTGATCTTGGTTAGGTTCAGGATGGGAACCTTAAGCCCAGTTTACAGGGGTCATGGCCTTTCATTCCTTGGTAGTTTGGGGGGCAAAAGCCAAGCTCATACCATGGAAGTTTTTGTCAGGGCAGGAGGAAGAGTGACCATTTCCTTTTCCTTCTTCCTGCCTTGCCATCTTCTAGTTGTGGTTCTTGTGGATGTCTCAGACAAGTGGACACGGAACCAGCTCAGCCCCCAGTTGCTCAGGTGCTTGACCAAGTACTCCCAGATCCCTAGTGTCCTGGTCATGAACAAGGTGAGCACTACCCACCTGAGGAAGGGGTCTACTTCCCTCCAAGTCCCCTATCTCTGACCACACACCCTTTGCCCATCCCCCATGTCCAGGTAGATTGTTTGAAGCAGAAGTCAGTTCTCCTGGAGCTCACGGCAGCCCTCACTGAAGGTGTGGTCAATGGCAAAAAGCTCAAGATGAGGCAGGCCTTCCACTCACACCCTGGCACCCATTGCCCCAGCCCAGCAGTTAAGGACCCAAACACACAATCTGTGGGAAATCCTCAGAGGATTGGCTGGCCCCACTTCAAGGAGATCTTCATGTTGTCAGCCCTAAGCCAGGAGGACGTGAAAACACTAAAGGTCAGTTAGTCTTGGCCATAGCCTGGCCCTTGGTTTCTACCATATGAAGACAGCCCTCAAATTTCCTCCTGGAAGCAAAAGTGAGGAGAAAAGTCCTGGTTGGGATTAAGATGCCCATCTATTCCCTCTGTTCCCACAGCAATACCTTCTGACACAGGCCCAGCCAGGGCCCTGGGAGTACCACAGTGCAGTCCTCACTAGCCAGACACCAGAAGAGATCTGTGCCAACATTATCCGAGAGAAGCTCCTAGAACACCTGCCCCAGGAGGTGCCTTACAATGTACAGCAGGTACAGAGTGAAGGGTTCTGGGGGCTCTCTATCAGACACACACCTCTACCCAGGTGTATGACTGACTAATCATTTGTCTCCCTGTACAGAAGACAGCAGTGTGGGAGGAAGGACCAGGTGGGGAGCTGGTTATCCAACAGAAGCTTCTGGTGCCCAAAGAATCTTATGTGGTAAGTGAGACTAGGCTCAGAGGAGAGATCAAGACTATGTTAGGCAGGAGTTCTTCCCCCAGCTTGGAGCCCTGAGAGCAGGACCATATCCTTCTCTCTTTTTTTCTTCTTCTTTTCTTTTTTTTGAGACAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCACAGTTCACTGCAGCCTTGACTTCCCACGCTCAAGCAATCCTCCCGCCTCAGCCCCCTGAGGAGCTGAGACCAGCTGATTATAATTTTCTTTTTTTTTTTTTGAGACAAAGTCTCACTCTGTCATCCAGGCTGGAGTGCAGTGGCGTGATCTCTGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGAAGCTGGGATTACAGGTGCCCACCACCAAGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGCTTCGAACGCTTGACCTCAAATTGTCCGCCCACCTCAGCCTCCCAAAGTGCCGCCTGACTATCCGCTAATTTAAAAAAATTTTTTTGTAGAGAAGGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAATTCCTGGGCTCAAGCAGTCCATGCACCTTGGCCTCCGAAAGTGCTGGGATTAATATGCGTGAGCCACCACATCTAACCCTCTCTTTTTTTTATTTTTTTATTTTTTTTTTGAGCCAGGTTCTTGCTCTGTCACTCAGGCTGGGGTGCAGAGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGTGCCCGCCACCATGTCCAGCTAATTTTTTGTGTTTTTAGTAGAGACAGCATTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCACCCTCTCTTTTTTTTAAAGAGGGGTCGCACTGTTACCCAGGCTGGACTCAAACTCCTGTGCTCAAAGGATCTTCTCACCTTAGCCCCCCAAGTAGCTGGGACTACAGGCATGTGCCATCATTCCTGGCTTCCTTCTCTTTCACATACCCTCAGAAACTCCTGATTGGTCCGAAGGGCCACGTGATCTCCCAGATAGCACAGGAGGCAGGCCATGACCTCATGGACATCTTCCTCTGCGATGTTGACATCCGC 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TTCTTGCCATGCCTTCAAGGATGGTCTTGGAGGGATCTGGGACCTCACTGAGACTCCTTTGTTCCTGGCAGGTGTTCCCTGTTTCCAGGAAGGTGCATACTACTCGCTGCCAAGCTCTGGGGGTCATCACAGAGAAGGAGACCCAGGTGGTGGGTACCTACAAAGGGAGTCCTTGAAACAGGACAGAGGGTGAAGCTAAGAGGGTCTCCCTTACCATCAGCCTTGAAGAAAATGATGGTCACATTCATTTATGTGAGGAAAGGGGGTTTCTTTTCTTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGACGCGATCTTGGCTCACTGCAAGCTCCACCTCCCAGGTTGACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCTGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTCTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCGCGTGATCCGCCTGCCTCAGCATCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCAGGAAAGGGGGTTTCCTCTTCCTTTAGGCATGGTACAGTTCTGTCTCTACCTTGCCCTCCCCTGACATCTAGTCAGAAAGATTTCATTCTCTCGCTCTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTTCAATGGCATGATCTCAGCTCACTACAACCTCTGCCTCCCGGGTTTAAGCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCGCCACCACGCCCGGCTACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCGATTTCATTCTCTGTTTACTGCTTCCTAATCTTCCTTATATTCACAGTCATCATCTTTCTCCCAGATCCCATCAAAGCAGAATGGTAGAAACCTAAGGTCAGCCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCAAAGCAGGCGGATCACTTGAGATCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAGAAAAAAACAAAAAACAAACCTAAAGTCAATAATAGTTTGACTGAGAAGGGAGGGCAGGCTCCTGACATCACAGGTAGCCTCTCTCTGACTTCCCAGTCATAATCTTTTCTCCTGGGGTCTGGGTATCTCACTTTCCTGATTTTAGATTCTACTTGACACACCTGGCATTATCAGTCCTGGTAAACAGAAGAGGTAATGGTGGTGGAATTGGGGTGGATTGGCGGGGAGGTACTGAAAGAGGGTGGGGAGATTCCATTATAGGGGCTGGAAAACCCCTTTACCATACCACATCCCTCATCAGAAATGCCTTAGTCATAAGACCTTTCCTGACTGATGTATGTCTGTCCCTCAGGCATCACCTGGAGCTCTCTTTGTTGGAAGATCCATGGAAGAGCATGGAATCTGCTGATCTTGGTTAGGTTCAGGATGGGAACCTTAAGCCCAGTTTACAGGGGTCATGGCCTTTCATTCCTTGGTAGTTTGGGGGGCAAAAGCCAAGCTCATACCATGGAAGTTTTTGTCAGGGCAGGAGGAAGAGTGACCATTTCCTTTTCCTTCTTCCTGCCTTGCCATCTTCTAGTTGTGGTTCTTGTGGATGTCTCAGACAAGTGGACACGGAACCAGCTCAGCCCCCAGTTGCTCAGGTGCTTGACCAAGTACTCCCAGATCCCTAGTGTCCTGGTCATGATCAAGGTGAGCACTACCCACCTGAGGAAGGGGTCTACTTCCCTCCAAGTCCCCTATCTCTGACCACACACCCTTTGCCCATCCCCCATGTCCAGGTAGATTGTTTGAAGCAGAAGTCAGTTCTCCTGGAGCTCACGGCAGCCCTCACTGAAGGTGTGGTCAATGGCAAAAAGCTCAAGATGAGGCAGGCCTTCCACTCACACCCTGGCACCCATTGCCCCAGCCCAGCAGTTAAGGACCCAAACACACAATCTGTGGGAAATCCTCAGAGGATTGGCTGGCCCCACTTCAAGGAGATCTTCATGTTGTCAGCCCTAAGCCAGGAGGACGTGAAAACACTAAAGGTCAGTTAGTCTTGGCCATAGCCTGGCCCTTGGTTTCTACCATATGAAGACAGCCCTCAAATTTCCTCCTGGAAGCAAAAGTGAGGAGAAAAGTCCTGGTTGGGATTAAGATGCCCATCTATTCCCTCTGTTCCCACAGCAATACCTTCTGACACAGGCCCAGCCAGGGCCCTGGGAGTACCACAGTGCAGTCCTCACTAGCCAGACACCAGAAGAGATCTGTGCCAACATTATCCGAGAGAAGCTCCTAGAACACCTGCCCCAGGAGGTGCCTTACAATGTACAGCAGGTACAGAGTGAAGGGTTCTGGGGGCTCTCTATCAGACACACACCTCTACCCAGGTGTATGACTGACTAATCATTTGTCTCCCTGTACAGAAGACAGCAGTGTGGGAGGAAGGACCAGGTGGGGAGCTGGTTATCCAACAGAAGCTTCTGGTGCCCAAAGAATCTTATGTGGTAAGTGAGACTAGGCTCAGAGGAGAGATCAAGACTATGTTAGGCAGGAGTTCTTCCCCCAGCTTGGAGCCCTGAGAGCAGGACCATATCCTTCTCTCTTTTTTTCTTCTTCTTTTCTTTTTTTTGAGACAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCACAGTTCACTGCAGCCTTGACTTCCCACGCTCAAGCAATCCTCCCGCCTCAGCCCCCTGAGGAGCTGAGACCAGCTGATTATAATTTTCTTTTTTTTTTTTTGAGACAAAGTCTCACTCTGTCATCCAGGCTGGAGTGCAGTGGCGTGATCTCTGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGAAGCTGGGATTACAGGTGCCCACCACCAAGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGCTTCGAACGCTTGACCTCAAATTGTCCGCCCACCTCAGCCTCCCAAAGTGCCGCCTGACTATCCGCTAATTTAAAAAAATTTTTTTGTAGAGAAGGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAATTCCTGGGCTCAAGCAGTCCATGCACCTTGGCCTCCGAAAGTGCTGGGATTAATATGCGTGAGCCACCACATCTAACCCTCTCTTTTTTTTATTTTTTTATTTTTTTTTTGAGCCAGGTTCTTGCTCTGTCACTCAGGCTGGGGTGCAGAGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGTGCCCGCCACCATGTCCAGCTAATTTTTTGTGTTTTTAGTAGAGACAGCATTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCACCCTCTCTTTTTTTTAAAGAGGGGTCGCACTGTTACCCAGGCTGGACTCAAACTCCTGTGCTCAAAGGATCTTCTCACCTTAGCCCCCCAAGTAGCTGGGACTACAGGCATGTGCCATCATTCCTGGCTTCCTTCTCTTTCACATACCCTCAGAAACTCCTGATTGGTCCGAAGGGCCACGTGATCTCCCAGATAGCACAGGAGGCAGGCCATGACCTCATGGACATCTTCCTCTGCGATGTTGACATCCGC 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Task1_train_23895 | This mutation is located in gene TAOK1 (TAO kinase 1) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Developmental delay with or without intellectual impairment or behavioral abnormalities | TTTTACTTTTTTTGATAGCCATGTTTGTCAAGTAGAATGTAGACTTCTCAGTAAATTCACACAATATCATTAAAATATGTCCAGGTAGTCTGCAGTGAGGCATTATTTATCATAGCTACCCTCTTCTCCCTTTTCACAAAAAAAGAACATTCTTATAGTAGTAGGGACCCTGACAAAATAATTTATAGTATAAATACATACTTGATTTTGAAATAATTTGATGAAACAATGTATACATATTTAAAATCCTCTGGGCATTGGATATTTTCATTTTTTTATTTTTTATTTTATTTTTATTATTTTTTGAGACAGAATCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGCTCTCCAAGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGTGCATCTACCATGCCTGGCTAATTTTTCATCTACCATGCCTGGCTAATTTTTGTATTATTTTTATTTTAGTAGAAAAGGGGTTTCACCATGTTAATCAGGCTGGTCTCAAATCCCTGACCTCAGGTGACCTTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGATGTGAGCCACCACACTTGATAGATATTATTTTTAATAGCTTGGGAAAAGGCGATACTAACATATTTAGGAAAACAATTCCTGAAGCAGATATGCAATGTGGTAACAAATTTGTTTTAAAAGTATATAACCAGGATGGGTGCAGTGGCTCACACCTGTAATCCCACCACTTTGGGAGGCCGAGGTGAGAAGATTACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGGAAGACTCTGTCTCCACACACAAAAAAAATAAATTAGCTGAGCAGGGTGGCATACGCCTTTAGTTCCAGCTACTCAGGAGGCTGAGGTGGGAAGATCACTTGAGCTCAGGAGGAGGCTGCAATGAGCCATGATTGTACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTAACATATTTTTTGAGACAGGCACTCGCCCTGTTACCCAGCTGGTCTTGAACTCCTGGGCTCAGGTGATCCTCCCACCTCAGCCTCTCAAAGTGTTGGGATTACAGGTATGAGCCACAATACCTACTTAATTATATACATGCAAATATATGTGTGTATGTGTATGTGTGTGTGTTTGAGACATGAACATTTATAGAAAAAATTAGAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCAAGACCAGCTTGGCCAACATGGCAAAACCCCATCTCTTCTAAAAATACAAAAATTAGCCAGGCGTGGTGTCACACACCCGTAGTCACAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAAGCGGAGGTTGCAGTGAGCCGAGCTCGTGCCACTGCACTGCAGCCAGGGTAACAGAGCAAGACTCCATCTCAAAAATAATAATTTTAAAAAAAGAAAAAATTGCAAAAGATATGCACCAAAATGTTTACATTGGTTATCTCTGGATGCCAAAATTATGTAAGATGTTTCTTGTTTTTCTGTATTTTGTAAATATTCTACAATGAACATGTATTGCATATAGAATCAGAAATAAAATATAGCATTTGTTTTGTTTTACTGAGGGATTGAGGGTTGGGAGGAAGGTATACTTCTGTTAAATGAAATAAAAAGTTGACAACATTTTTGACCCTGTAAGAGATCAACATTTCAAAGATGAGTTTCATCTTACTGATTCTATGAAGTTCAAATTATAAGGATGCCAAGTAGCACATGTTTATAATTTGGTTCAGTCTTTTATTTTGGTAATGTTTCTAATGATTTCTTGTTCTTAGAAAATAAAAGGTATTCTTAATGATGTATATTAAACCACTACTTTATCTACTTAACTAAATTTGATTCATTTTTTAAACTTCATATAGGCTAAAGTGATGTCCAATGAAGAGAAAAAATTTCAGCAACATATTCAGGCCCAACAGAAGAAAGAACTGAATAGTTTTCTCGAGTCCCAGAAAAGAGAGTATAAACTTCGAAAAGAGCAGCTTAAAGAGGTACTTATGTCATAAAACTTTCCAAGCAAATTTTCTGCTTATTAATTATATCCAATGGTGACCAACTCATAGAAGCATTAGGATAAAATTATCTTTTGTTGTTTATGGTCACTAAATGGGTATTAGTTTAAATGATGACATTGATTATAATCAGTTACCCTTAACTGAGTCATTTAGTTGAGTAGGATTTAAAATGAATCATTTCCTGAAAATATACTTTTTTTATGTTTTTATTTTATATTTATTTATTTATTTTTGAGACAAAGAGTCTCGCTCTGTCACCCAGGCTCGAGTGCAGTGGCGCGCTCTCGGCTCACTTCAAGCTCTGCCTACTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCGCCCACCACCACACCCGGCAAACATTTGGTATTTTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCATCGTGCCTGGCCTTATGTTTTTATTTTTTGTGTGTATTTTTTGAGACAGTCTTATTCTGTTCCACGGGCTGGAGTGCAGTGGCACAATCATAGCTCACTGCAGCTTCGACCTCCCGTGCTCAAGCAATCCTGCTTTAGCCTTCCAAGTAGCTGGGAACACAAGCACACACCACCACTCCTGGCTGATTTTTAAATTTATTTTTTGTAGAGACAGGGTCTTGCCATGTTGCCTAGTCTGGTCTCAAACTCCTGGGCTCAAGCAGTCCGCCTACCTCGGCTTCCCAAAGTGCTGGGATTATAGGCATAAGCCACCGCACCTGATCACATTTATTACTTTAAAAGTAAACAATAATGTCTTACTTTTGGATCAGAAGATTATAATAATTTGTTTTTATGCCAATTTAAATGTAGAATAAGGGAGATATTTGCTTATCAGGTTTTTTTTAAGTAGAATATGCTGATTATTTCTTTGTGGCTACAGGGTTTCATATTTGTTTGCCCTTTCTTGTGCTGCCCGGCCTCCCCCCTACCCCCCGCTTTTTTTTTGAGACGGAAGTCTCACTCTGTCATACAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAGCCTCCCCTCCCCCCAGGTTGAAAGGATTCTCCTGCCTCAACCCCCCCGAGTAGCTGGGATTACAGGTGTGTGCCACCATGCCTGGCTAATTTGTATATATTTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTTTCAAACTCCTGACCTCAGACAATCTACCCACCTCGGCCCCCCAAAGTGCTGGGATTACAAGAGTTAGCCACCACTCCCGGCTCTTGTGCTGCTTTTTGTTTGTTTGGTTTGGTTTGGTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGGGTGCAGTGGCATGATCTCGGCTCACTGCAACCTTTGCCGCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTTGAGTAGCCGGCATTACAGGCGACTGCCACCACGCCTGGCTGATTTTTGTATTTTTAGTAGAGATGAGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAGCTCCTGACCTTGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGTGTGAGCCACAACATCCAGCTGACAACTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACACCATTCTCCTGCCTCCGGCTCCCGAGTAGCTGGGACTACAGGGACCCACCACCACGCCCGGCTAATTTTTTGTATTTTTGGTAGAGACTGGATTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCTGCTCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTG | TTTTACTTTTTTTGATAGCCATGTTTGTCAAGTAGAATGTAGACTTCTCAGTAAATTCACACAATATCATTAAAATATGTCCAGGTAGTCTGCAGTGAGGCATTATTTATCATAGCTACCCTCTTCTCCCTTTTCACAAAAAAAGAACATTCTTATAGTAGTAGGGACCCTGACAAAATAATTTATAGTATAAATACATACTTGATTTTGAAATAATTTGATGAAACAATGTATACATATTTAAAATCCTCTGGGCATTGGATATTTTCATTTTTTTATTTTTTATTTTATTTTTATTATTTTTTGAGACAGAATCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGCTCTCCAAGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGTGCATCTACCATGCCTGGCTAATTTTTCATCTACCATGCCTGGCTAATTTTTGTATTATTTTTATTTTAGTAGAAAAGGGGTTTCACCATGTTAATCAGGCTGGTCTCAAATCCCTGACCTCAGGTGACCTTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGATGTGAGCCACCACACTTGATAGATATTATTTTTAATAGCTTGGGAAAAGGCGATACTAACATATTTAGGAAAACAATTCCTGAAGCAGATATGCAATGTGGTAACAAATTTGTTTTAAAAGTATATAACCAGGATGGGTGCAGTGGCTCACACCTGTAATCCCACCACTTTGGGAGGCCGAGGTGAGAAGATTACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGGAAGACTCTGTCTCCACACACAAAAAAAATAAATTAGCTGAGCAGGGTGGCATACGCCTTTAGTTCCAGCTACTCAGGAGGCTGAGGTGGGAAGATCACTTGAGCTCAGGAGGAGGCTGCAATGAGCCATGATTGTACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTAACATATTTTTTGAGACAGGCACTCGCCCTGTTACCCAGCTGGTCTTGAACTCCTGGGCTCAGGTGATCCTCCCACCTCAGCCTCTCAAAGTGTTGGGATTACAGGTATGAGCCACAATACCTACTTAATTATATACATGCAAATATATGTGTGTATGTGTATGTGTGTGTGTTTGAGACATGAACATTTATAGAAAAAATTAGAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCAAGACCAGCTTGGCCAACATGGCAAAACCCCATCTCTTCTAAAAATACAAAAATTAGCCAGGCGTGGTGTCACACACCCGTAGTCACAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAAGCGGAGGTTGCAGTGAGCCGAGCTCGTGCCACTGCACTGCAGCCAGGGTAACAGAGCAAGACTCCATCTCAAAAATAATAATTTTAAAAAAAGAAAAAATTGCAAAAGATATGCACCAAAATGTTTACATTGGTTATCTCTGGATGCCAAAATTATGTAAGATGTTTCTTGTTTTTCTGTATTTTGTAAATATTCTACAATGAACATGTATTGCATATAGAATCAGAAATAAAATATAGCATTTGTTTTGTTTTACTGAGGGATTGAGGGTTGGGAGGAAGGTATACTTCTGTTAAATGAAATAAAAAGTTGACAACATTTTTGACCCTGTAAGAGATCAACATTTCAAAGATGAGTTTCATCTTACTGATTCTATGAAGTTCAAATTATAAGGATGCCAAGTAGCACATGTTTATAATTTGGTTCAGTCTTTTATTTTGGTAATGTTTCTAATGATTTCTTGTTCTTAGAAAATAAAAGGTATTCTTAATGATGTATATTAAACCACTACTTTATCTACTTAACTAAATTTGATTCATTTTTTAAACTTCATATAGGCTAAAGTGATGTCCAATGAAGAGAAAAAATTTCAGCAACATATTCAGGCCCAACAGAAGAAAGAACCGAATAGTTTTCTCGAGTCCCAGAAAAGAGAGTATAAACTTCGAAAAGAGCAGCTTAAAGAGGTACTTATGTCATAAAACTTTCCAAGCAAATTTTCTGCTTATTAATTATATCCAATGGTGACCAACTCATAGAAGCATTAGGATAAAATTATCTTTTGTTGTTTATGGTCACTAAATGGGTATTAGTTTAAATGATGACATTGATTATAATCAGTTACCCTTAACTGAGTCATTTAGTTGAGTAGGATTTAAAATGAATCATTTCCTGAAAATATACTTTTTTTATGTTTTTATTTTATATTTATTTATTTATTTTTGAGACAAAGAGTCTCGCTCTGTCACCCAGGCTCGAGTGCAGTGGCGCGCTCTCGGCTCACTTCAAGCTCTGCCTACTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCGCCCACCACCACACCCGGCAAACATTTGGTATTTTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCATCGTGCCTGGCCTTATGTTTTTATTTTTTGTGTGTATTTTTTGAGACAGTCTTATTCTGTTCCACGGGCTGGAGTGCAGTGGCACAATCATAGCTCACTGCAGCTTCGACCTCCCGTGCTCAAGCAATCCTGCTTTAGCCTTCCAAGTAGCTGGGAACACAAGCACACACCACCACTCCTGGCTGATTTTTAAATTTATTTTTTGTAGAGACAGGGTCTTGCCATGTTGCCTAGTCTGGTCTCAAACTCCTGGGCTCAAGCAGTCCGCCTACCTCGGCTTCCCAAAGTGCTGGGATTATAGGCATAAGCCACCGCACCTGATCACATTTATTACTTTAAAAGTAAACAATAATGTCTTACTTTTGGATCAGAAGATTATAATAATTTGTTTTTATGCCAATTTAAATGTAGAATAAGGGAGATATTTGCTTATCAGGTTTTTTTTAAGTAGAATATGCTGATTATTTCTTTGTGGCTACAGGGTTTCATATTTGTTTGCCCTTTCTTGTGCTGCCCGGCCTCCCCCCTACCCCCCGCTTTTTTTTTGAGACGGAAGTCTCACTCTGTCATACAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAGCCTCCCCTCCCCCCAGGTTGAAAGGATTCTCCTGCCTCAACCCCCCCGAGTAGCTGGGATTACAGGTGTGTGCCACCATGCCTGGCTAATTTGTATATATTTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTTTCAAACTCCTGACCTCAGACAATCTACCCACCTCGGCCCCCCAAAGTGCTGGGATTACAAGAGTTAGCCACCACTCCCGGCTCTTGTGCTGCTTTTTGTTTGTTTGGTTTGGTTTGGTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGGGTGCAGTGGCATGATCTCGGCTCACTGCAACCTTTGCCGCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTTGAGTAGCCGGCATTACAGGCGACTGCCACCACGCCTGGCTGATTTTTGTATTTTTAGTAGAGATGAGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAGCTCCTGACCTTGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGTGTGAGCCACAACATCCAGCTGACAACTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACACCATTCTCCTGCCTCCGGCTCCCGAGTAGCTGGGACTACAGGGACCCACCACCACGCCCGGCTAATTTTTTGTATTTTTGGTAGAGACTGGATTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCTGCTCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTG 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Task1_train_23896 | This gene mutation involves LOC111811965, MIR4733HG, NF1 (NF1 (neurofibromin 1) promoter region| MIR4733 host gene| neurofibromin 1) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Neurofibromatosis, type 1 | GGGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCTGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACACCGTCTCTACTAAAAATACAAAAATTAGCCGGCTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCACTTCAACCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCTCTGCACTCCAGCCTGGGTGACAGGGTGAGACTCTGTCTTAAAAAAAAAAAAAAAAAATTAGTCATTCCAAAGTCCAATGTCAGACATAGATTATCCGTTGTTTTGGATGTAATCCTCTTCCTGGAAAACTGGCACAACCCAATTACACATGAAATCCTTTCAACTCTGGTATTGGAGGTATAGGGAAGGACTTTGTTTTAGGAGACCCATAGTCTACCTCTATTGTTCTAGGAGTTAAACCACGTTGGTTTACATCCTGACTTTGCCACCTGTCAACTCAGACCTTGGGCAAATCAAAGGTCTGAGGGAGGAGTGCAGGCTCCCAGCGTTCCCACGGGGGTGGGGACGTGACGTATTCATCAGTTCATGAAGTTAATGATATGTATTGAAAAGGTTTGTTCAAGGATTTAAATAAGACGATGAATATATTGAATTAATAATGAATGCAAGGCCTTAAAGGTGTTTTGAGGGTGGTGAAACTTGAATCTCTCATCAACTGTGCAATAGTTATATTAACTTGGATGGCTATGAGTTTTGCAGAGGAAAGCTGGGCTTAAATCCCAATGCTAGACCTGGTGGCTAGACCTTGATTGCCACCGGGTCTAGCATTGGGATTTAAGCGACCTCTAAAAAAAAAAAATCACGGAATCTCTCTTTGGCCTTCCTTTTTTGTTTCTCAGCAGTCTACCAAGCTACGAAGAACCTGAAAATCGGAGGTCGTGTACCTTATTTTTTCTGAGAGCTTAAGCTGAGAGCACAGCCTCCCCAGGAGATTAGCGGCAGAGATCCGCGCGCTGGGAGAAAGGCTAGCCCCAGGGCGCCCTAACTTCCAACTCCGGGAGCAATCCAAACCCGGAGGCCGGCGGGGGAGGGGACAGCTGTAGGGGGCGGTGGGGATGGGAGTGGATGCTCCCGGGTCAGCTCTGGCACTCGCCAGCTGAGCCCAGCGCCAGTCTAGGTGAGCCCCACGGCGGTGAGGGACGCTCGCCAGACGGCCCAGAGGAGTTAGATGACGTCACCTCCAGGAGGACTCGCTTTTTCATTAATGAAACCGGCCGGCGCGGGCGCATGCGCGGCAGGCCGCCTTCCCTCTCGCTTCCCCCTCCCCTTTCCCAGCCGCGCTCTCAATCTCTAGCTCGCTCGCGCTCCCTCTCCCCGGGCCGTGGAAAGGATCCCACTTCCGGTGGGGTGTCATGGCGGCGTCTCGGACTGTGATGGCTGTGGGGAGACGGCGCTAGTGGGGAGAGCGACCAAGAGGCCCCCTCCCCTCCCCGGGTCCCCTTCCCCTATCCCCCTCCCCCCAGCCTCCTTGCCAACGCCCCCTTTCCCTCTCCCCCTCCCGCTCGGCGCTGACCCCCCATCCCCACCCCCGTGGGAACACTGGGAGCCTGCACTCCACAGACCCTCTCCTTGCCTCTTCCCTCACCTCAGCCTCCGCTCCCCGCCCTCTTCCCGGCCCAGGGCGCCGGCCCACCCTTCCCTCCGCCGCCCCCCGGCCGCGGGGAGGACATGGCCGCGCACAGGCCGGTGGAATGGGTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGGTAACCGGCCCGTGGCGGGCGGGAGGTGGGAGCGGAGTGGGGGTGGGGACAGAGTAGGTGAGGGGAGGTAGGAGCGGCCGCCTCCCCCGCGGCTGCCTCAGGCTCTGGAGGAAAGGAAGGGAAGGGAAGAGAAGGGAAGGGGGGATAAGTGGGGGTGGCCAAGGCGGGAGGTGAGGGGTAGGAGGGGACAGCTGGGAGCTTGGGCACCCTTTCCCTCCTAAGTCGGGGGGTGGGGCCTTGTCCCTGACCAGCCTCCGACCCTCCATCCCCTTTATCCCAGCCCTTCCGCTTGGAAATGGGGATGAGTGACCTGGGGGCGCCTTTAGGGGCGCGCCATCTGGATTTAATAATTACCCCCTTACTTTTGTTTTTGAGCAGAGGTGGGTAACGTTTAGGGGTTCTCTCTTCCTCTTCCCTCCGTGACCCTCCTAACTGGGGACGAGCGAACCCTAAGGCCTGTCTTATATACCCTCAATAGGAGAACGATAACATTCCGCCCCTCCCCCAGTTTCTTCAGCTTCCTCTCCTGGAGGGGGAAGAGCAGAAGAAAGCAAGGAAGGCACAGGTTTTCTTACTTTCTGCTCCATCGTCTCATCCTGCCCCGAGAGCTTCAAGTGCACACTCACTGCACATCTTTGTGATGCCCTACAACGTCGTCCCCCATATCCTGATGACACAGACTGCCTTTTTTTTTTATTGCCGTTTGCAGTGGAAACCGTGGTTCTGAAATATCTTCCCCTTCCTTGATAATTGCAGTCTCTTCCCCCCCCCCTTTTTTTTTTGCCAGCGGTCTGAGGATGTGATGCATTCTCGAGTGAGAATGTTGGGGAGTAAAGGGGAGAAGGGTGAAAGGAAAGTGAGAAACTGCTTCAGAGCCACCGACAACAGAGCAAAGCCAGCTGGGATGTGGTCCTGGAGCGGATCATTCTGCTAGTGTTTGTGGTTGTTTTTGACTCTCTCCTGGTTGACAAGAGAACTTTCATTGAGAATATTTGGGATGAAAAAAAAGTTTTGTAGCTTGAGGAGGTGACTTTTTATCGCCTGAGTTTCACACAATAAATCCTGGGGCTGATTAGAATAAATGCACACATAGCCTTTTGTCAGTGGAAATTGGTTTAACTTTGTGTTGCTGTAGGTAGTTGGGGATGGTTTAAGGGATGCTTTCTGCAGCTGTGGGTGCAGTGGGCTTCCTGTGATGGGGGAATTGTTTAAGATTGAGTCAACCTATTTTGTTTACTGGATATAATGGTAAAACATTATGGGAGCTGAAGGGGTGGGGGAAGAGCTCTTCTGTTATTTGATGCATAAACATTTCTTTACGGGACTCAGCGTTTCAGACCTACCTGGAAAATATCTTGGAATAGACAGAGGAAGTTGAGAAGAAGCTATGTAGATAAAATAGAGTTATGAAGCTGTCAGAGACTTGAAGGAATTGTTTTATCCATTCGTATGCTTCCAGACCCAAAGGCATCTAAACTAAACTACTAATCCATCTGAAGTATAATGTTACTGCATATAAAAGATTACATTATTGATAGAGCGTTAGATTTAAAACTTGGTAGAAAAGACTCTGTAATTTTAAGAAAGGATTTAAAAGGCACATAGAAGACTTCCAAAGCTGAACCTTGTGGACAGCAGAATCTGGATGTAGGAAATTGAAGGATCCACGCCGCAATTCTCCTTAAATTTTAAAAATTAAAAATTTTTTTCAGTTTTTTCTTAATTTTATTTTTTTACTTCTTACCTGTTCATCTCTAGGCTTATTTGCCATATTGGAAAAAGATACTTAAGAGAGGAATGATTTTGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGC 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GGGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCTGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACACCGTCTCTACTAAAAATACAAAAATTAGCCGGCTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCACTTCAACCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCTCTGCACTCCAGCCTGGGTGACAGGGTGAGACTCTGTCTTAAAAAAAAAAAAAAAAAATTAGTCATTCCAAAGTCCAATGTCAGACATAGATTATCCGTTGTTTTGGATGTAATCCTCTTCCTGGAAAACTGGCACAACCCAATTACACATGAAATCCTTTCAACTCTGGTATTGGAGGTATAGGGAAGGACTTTGTTTTAGGAGACCCATAGTCTACCTCTATTGTTCTAGGAGTTAAACCACGTTGGTTTACATCCTGACTTTGCCACCTGTCAACTCAGACCTTGGGCAAATCAAAGGTCTGAGGGAGGAGTGCAGGCTCCCAGCGTTCCCACGGGGGTGGGGACGTGACGTATTCATCAGTTCATGAAGTTAATGATATGTATTGAAAAGGTTTGTTCAAGGATTTAAATAAGACGATGAATATATTGAATTAATAATGAATGCAAGGCCTTAAAGGTGTTTTGAGGGTGGTGAAACTTGAATCTCTCATCAACTGTGCAATAGTTATATTAACTTGGATGGCTATGAGTTTTGCAGAGGAAAGCTGGGCTTAAATCCCAATGCTAGACCTGGTGGCTAGACCTTGATTGCCACCGGGTCTAGCATTGGGATTTAAGCGACCTCTAAAAAAAAAAAATCACGGAATCTCTCTTTGGCCTTCCTTTTTTGTTTCTCAGCAGTCTACCAAGCTACGAAGAACCTGAAAATCGGAGGTCGTGTACCTTATTTTTTCTGAGAGCTTAAGCTGAGAGCACAGCCTCCCCAGGAGATTAGCGGCAGAGATCCGCGCGCTGGGAGAAAGGCTAGCCCCAGGGCGCCCTAACTTCCAACTCCGGGAGCAATCCAAACCCGGAGGCCGGCGGGGGAGGGGACAGCTGTAGGGGGCGGTGGGGATGGGAGTGGATGCTCCCGGGTCAGCTCTGGCACTCGCCAGCTGAGCCCAGCGCCAGTCTAGGTGAGCCCCACGGCGGTGAGGGACGCTCGCCAGACGGCCCAGAGGAGTTAGATGACGTCACCTCCAGGAGGACTCGCTTTTTCATTAATGAAACCGGCCGGCGCGGGCGCATGCGCGGCAGGCCGCCTTCCCTCTCGCTTCCCCCTCCCCTTTCCCAGCCGCGCTCTCAATCTCTAGCTCGCTCGCGCTCCCTCTCCCCGGGCCGTGGAAAGGATCCCACTTCCGGTGGGGTGTCATGGCGGCGTCTCGGACTGTGATGGCTGTGGGGAGACGGCGCTAGTGGGGAGAGCGACCAAGAGGCCCCCTCCCCTCCCCGGGTCCCCTTCCCCTATCCCCCTCCCCCCAGCCTCCTTGCCAACGCCCCCTTTCCCTCTCCCCCTCCCGCTCGGCGCTGACCCCCCATCCCCACCCCCGTGGGAACACTGGGAGCCTGCACTCCACAGACCCTCTCCTTGCCTCTTCCCTCACCTCAGCCTCCGCTCCCCGCCCTCTTCCCGGCCCAGGGCGCCGGCCCACCCTTCCCTCCGCCGCCCCCCGGCCGCGGGGAGGACGTGGCCGCGCACAGGCCGGTGGAATGGGTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGGTAACCGGCCCGTGGCGGGCGGGAGGTGGGAGCGGAGTGGGGGTGGGGACAGAGTAGGTGAGGGGAGGTAGGAGCGGCCGCCTCCCCCGCGGCTGCCTCAGGCTCTGGAGGAAAGGAAGGGAAGGGAAGAGAAGGGAAGGGGGGATAAGTGGGGGTGGCCAAGGCGGGAGGTGAGGGGTAGGAGGGGACAGCTGGGAGCTTGGGCACCCTTTCCCTCCTAAGTCGGGGGGTGGGGCCTTGTCCCTGACCAGCCTCCGACCCTCCATCCCCTTTATCCCAGCCCTTCCGCTTGGAAATGGGGATGAGTGACCTGGGGGCGCCTTTAGGGGCGCGCCATCTGGATTTAATAATTACCCCCTTACTTTTGTTTTTGAGCAGAGGTGGGTAACGTTTAGGGGTTCTCTCTTCCTCTTCCCTCCGTGACCCTCCTAACTGGGGACGAGCGAACCCTAAGGCCTGTCTTATATACCCTCAATAGGAGAACGATAACATTCCGCCCCTCCCCCAGTTTCTTCAGCTTCCTCTCCTGGAGGGGGAAGAGCAGAAGAAAGCAAGGAAGGCACAGGTTTTCTTACTTTCTGCTCCATCGTCTCATCCTGCCCCGAGAGCTTCAAGTGCACACTCACTGCACATCTTTGTGATGCCCTACAACGTCGTCCCCCATATCCTGATGACACAGACTGCCTTTTTTTTTTATTGCCGTTTGCAGTGGAAACCGTGGTTCTGAAATATCTTCCCCTTCCTTGATAATTGCAGTCTCTTCCCCCCCCCCTTTTTTTTTTGCCAGCGGTCTGAGGATGTGATGCATTCTCGAGTGAGAATGTTGGGGAGTAAAGGGGAGAAGGGTGAAAGGAAAGTGAGAAACTGCTTCAGAGCCACCGACAACAGAGCAAAGCCAGCTGGGATGTGGTCCTGGAGCGGATCATTCTGCTAGTGTTTGTGGTTGTTTTTGACTCTCTCCTGGTTGACAAGAGAACTTTCATTGAGAATATTTGGGATGAAAAAAAAGTTTTGTAGCTTGAGGAGGTGACTTTTTATCGCCTGAGTTTCACACAATAAATCCTGGGGCTGATTAGAATAAATGCACACATAGCCTTTTGTCAGTGGAAATTGGTTTAACTTTGTGTTGCTGTAGGTAGTTGGGGATGGTTTAAGGGATGCTTTCTGCAGCTGTGGGTGCAGTGGGCTTCCTGTGATGGGGGAATTGTTTAAGATTGAGTCAACCTATTTTGTTTACTGGATATAATGGTAAAACATTATGGGAGCTGAAGGGGTGGGGGAAGAGCTCTTCTGTTATTTGATGCATAAACATTTCTTTACGGGACTCAGCGTTTCAGACCTACCTGGAAAATATCTTGGAATAGACAGAGGAAGTTGAGAAGAAGCTATGTAGATAAAATAGAGTTATGAAGCTGTCAGAGACTTGAAGGAATTGTTTTATCCATTCGTATGCTTCCAGACCCAAAGGCATCTAAACTAAACTACTAATCCATCTGAAGTATAATGTTACTGCATATAAAAGATTACATTATTGATAGAGCGTTAGATTTAAAACTTGGTAGAAAAGACTCTGTAATTTTAAGAAAGGATTTAAAAGGCACATAGAAGACTTCCAAAGCTGAACCTTGTGGACAGCAGAATCTGGATGTAGGAAATTGAAGGATCCACGCCGCAATTCTCCTTAAATTTTAAAAATTAAAAATTTTTTTCAGTTTTTTCTTAATTTTATTTTTTTACTTCTTACCTGTTCATCTCTAGGCTTATTTGCCATATTGGAAAAAGATACTTAAGAGAGGAATGATTTTGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGC 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Task1_train_23897 | Gene LOC111811965, MIR4733HG, NF1 (NF1 (neurofibromin 1) promoter region| MIR4733 host gene| neurofibromin 1) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Hereditary cancer-predisposing syndrome | GGGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCTGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACACCGTCTCTACTAAAAATACAAAAATTAGCCGGCTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCACTTCAACCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCTCTGCACTCCAGCCTGGGTGACAGGGTGAGACTCTGTCTTAAAAAAAAAAAAAAAAAATTAGTCATTCCAAAGTCCAATGTCAGACATAGATTATCCGTTGTTTTGGATGTAATCCTCTTCCTGGAAAACTGGCACAACCCAATTACACATGAAATCCTTTCAACTCTGGTATTGGAGGTATAGGGAAGGACTTTGTTTTAGGAGACCCATAGTCTACCTCTATTGTTCTAGGAGTTAAACCACGTTGGTTTACATCCTGACTTTGCCACCTGTCAACTCAGACCTTGGGCAAATCAAAGGTCTGAGGGAGGAGTGCAGGCTCCCAGCGTTCCCACGGGGGTGGGGACGTGACGTATTCATCAGTTCATGAAGTTAATGATATGTATTGAAAAGGTTTGTTCAAGGATTTAAATAAGACGATGAATATATTGAATTAATAATGAATGCAAGGCCTTAAAGGTGTTTTGAGGGTGGTGAAACTTGAATCTCTCATCAACTGTGCAATAGTTATATTAACTTGGATGGCTATGAGTTTTGCAGAGGAAAGCTGGGCTTAAATCCCAATGCTAGACCTGGTGGCTAGACCTTGATTGCCACCGGGTCTAGCATTGGGATTTAAGCGACCTCTAAAAAAAAAAAATCACGGAATCTCTCTTTGGCCTTCCTTTTTTGTTTCTCAGCAGTCTACCAAGCTACGAAGAACCTGAAAATCGGAGGTCGTGTACCTTATTTTTTCTGAGAGCTTAAGCTGAGAGCACAGCCTCCCCAGGAGATTAGCGGCAGAGATCCGCGCGCTGGGAGAAAGGCTAGCCCCAGGGCGCCCTAACTTCCAACTCCGGGAGCAATCCAAACCCGGAGGCCGGCGGGGGAGGGGACAGCTGTAGGGGGCGGTGGGGATGGGAGTGGATGCTCCCGGGTCAGCTCTGGCACTCGCCAGCTGAGCCCAGCGCCAGTCTAGGTGAGCCCCACGGCGGTGAGGGACGCTCGCCAGACGGCCCAGAGGAGTTAGATGACGTCACCTCCAGGAGGACTCGCTTTTTCATTAATGAAACCGGCCGGCGCGGGCGCATGCGCGGCAGGCCGCCTTCCCTCTCGCTTCCCCCTCCCCTTTCCCAGCCGCGCTCTCAATCTCTAGCTCGCTCGCGCTCCCTCTCCCCGGGCCGTGGAAAGGATCCCACTTCCGGTGGGGTGTCATGGCGGCGTCTCGGACTGTGATGGCTGTGGGGAGACGGCGCTAGTGGGGAGAGCGACCAAGAGGCCCCCTCCCCTCCCCGGGTCCCCTTCCCCTATCCCCCTCCCCCCAGCCTCCTTGCCAACGCCCCCTTTCCCTCTCCCCCTCCCGCTCGGCGCTGACCCCCCATCCCCACCCCCGTGGGAACACTGGGAGCCTGCACTCCACAGACCCTCTCCTTGCCTCTTCCCTCACCTCAGCCTCCGCTCCCCGCCCTCTTCCCGGCCCAGGGCGCCGGCCCACCCTTCCCTCCGCCGCCCCCCGGCCGCGGGGAGGACATGGCCGCGCACAGGCCGGTGGAATGGGTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGGTAACCGGCCCGTGGCGGGCGGGAGGTGGGAGCGGAGTGGGGGTGGGGACAGAGTAGGTGAGGGGAGGTAGGAGCGGCCGCCTCCCCCGCGGCTGCCTCAGGCTCTGGAGGAAAGGAAGGGAAGGGAAGAGAAGGGAAGGGGGGATAAGTGGGGGTGGCCAAGGCGGGAGGTGAGGGGTAGGAGGGGACAGCTGGGAGCTTGGGCACCCTTTCCCTCCTAAGTCGGGGGGTGGGGCCTTGTCCCTGACCAGCCTCCGACCCTCCATCCCCTTTATCCCAGCCCTTCCGCTTGGAAATGGGGATGAGTGACCTGGGGGCGCCTTTAGGGGCGCGCCATCTGGATTTAATAATTACCCCCTTACTTTTGTTTTTGAGCAGAGGTGGGTAACGTTTAGGGGTTCTCTCTTCCTCTTCCCTCCGTGACCCTCCTAACTGGGGACGAGCGAACCCTAAGGCCTGTCTTATATACCCTCAATAGGAGAACGATAACATTCCGCCCCTCCCCCAGTTTCTTCAGCTTCCTCTCCTGGAGGGGGAAGAGCAGAAGAAAGCAAGGAAGGCACAGGTTTTCTTACTTTCTGCTCCATCGTCTCATCCTGCCCCGAGAGCTTCAAGTGCACACTCACTGCACATCTTTGTGATGCCCTACAACGTCGTCCCCCATATCCTGATGACACAGACTGCCTTTTTTTTTTATTGCCGTTTGCAGTGGAAACCGTGGTTCTGAAATATCTTCCCCTTCCTTGATAATTGCAGTCTCTTCCCCCCCCCCTTTTTTTTTTGCCAGCGGTCTGAGGATGTGATGCATTCTCGAGTGAGAATGTTGGGGAGTAAAGGGGAGAAGGGTGAAAGGAAAGTGAGAAACTGCTTCAGAGCCACCGACAACAGAGCAAAGCCAGCTGGGATGTGGTCCTGGAGCGGATCATTCTGCTAGTGTTTGTGGTTGTTTTTGACTCTCTCCTGGTTGACAAGAGAACTTTCATTGAGAATATTTGGGATGAAAAAAAAGTTTTGTAGCTTGAGGAGGTGACTTTTTATCGCCTGAGTTTCACACAATAAATCCTGGGGCTGATTAGAATAAATGCACACATAGCCTTTTGTCAGTGGAAATTGGTTTAACTTTGTGTTGCTGTAGGTAGTTGGGGATGGTTTAAGGGATGCTTTCTGCAGCTGTGGGTGCAGTGGGCTTCCTGTGATGGGGGAATTGTTTAAGATTGAGTCAACCTATTTTGTTTACTGGATATAATGGTAAAACATTATGGGAGCTGAAGGGGTGGGGGAAGAGCTCTTCTGTTATTTGATGCATAAACATTTCTTTACGGGACTCAGCGTTTCAGACCTACCTGGAAAATATCTTGGAATAGACAGAGGAAGTTGAGAAGAAGCTATGTAGATAAAATAGAGTTATGAAGCTGTCAGAGACTTGAAGGAATTGTTTTATCCATTCGTATGCTTCCAGACCCAAAGGCATCTAAACTAAACTACTAATCCATCTGAAGTATAATGTTACTGCATATAAAAGATTACATTATTGATAGAGCGTTAGATTTAAAACTTGGTAGAAAAGACTCTGTAATTTTAAGAAAGGATTTAAAAGGCACATAGAAGACTTCCAAAGCTGAACCTTGTGGACAGCAGAATCTGGATGTAGGAAATTGAAGGATCCACGCCGCAATTCTCCTTAAATTTTAAAAATTAAAAATTTTTTTCAGTTTTTTCTTAATTTTATTTTTTTACTTCTTACCTGTTCATCTCTAGGCTTATTTGCCATATTGGAAAAAGATACTTAAGAGAGGAATGATTTTGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGC 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GGGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCTGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACACCGTCTCTACTAAAAATACAAAAATTAGCCGGCTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCACTTCAACCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCTCTGCACTCCAGCCTGGGTGACAGGGTGAGACTCTGTCTTAAAAAAAAAAAAAAAAAATTAGTCATTCCAAAGTCCAATGTCAGACATAGATTATCCGTTGTTTTGGATGTAATCCTCTTCCTGGAAAACTGGCACAACCCAATTACACATGAAATCCTTTCAACTCTGGTATTGGAGGTATAGGGAAGGACTTTGTTTTAGGAGACCCATAGTCTACCTCTATTGTTCTAGGAGTTAAACCACGTTGGTTTACATCCTGACTTTGCCACCTGTCAACTCAGACCTTGGGCAAATCAAAGGTCTGAGGGAGGAGTGCAGGCTCCCAGCGTTCCCACGGGGGTGGGGACGTGACGTATTCATCAGTTCATGAAGTTAATGATATGTATTGAAAAGGTTTGTTCAAGGATTTAAATAAGACGATGAATATATTGAATTAATAATGAATGCAAGGCCTTAAAGGTGTTTTGAGGGTGGTGAAACTTGAATCTCTCATCAACTGTGCAATAGTTATATTAACTTGGATGGCTATGAGTTTTGCAGAGGAAAGCTGGGCTTAAATCCCAATGCTAGACCTGGTGGCTAGACCTTGATTGCCACCGGGTCTAGCATTGGGATTTAAGCGACCTCTAAAAAAAAAAAATCACGGAATCTCTCTTTGGCCTTCCTTTTTTGTTTCTCAGCAGTCTACCAAGCTACGAAGAACCTGAAAATCGGAGGTCGTGTACCTTATTTTTTCTGAGAGCTTAAGCTGAGAGCACAGCCTCCCCAGGAGATTAGCGGCAGAGATCCGCGCGCTGGGAGAAAGGCTAGCCCCAGGGCGCCCTAACTTCCAACTCCGGGAGCAATCCAAACCCGGAGGCCGGCGGGGGAGGGGACAGCTGTAGGGGGCGGTGGGGATGGGAGTGGATGCTCCCGGGTCAGCTCTGGCACTCGCCAGCTGAGCCCAGCGCCAGTCTAGGTGAGCCCCACGGCGGTGAGGGACGCTCGCCAGACGGCCCAGAGGAGTTAGATGACGTCACCTCCAGGAGGACTCGCTTTTTCATTAATGAAACCGGCCGGCGCGGGCGCATGCGCGGCAGGCCGCCTTCCCTCTCGCTTCCCCCTCCCCTTTCCCAGCCGCGCTCTCAATCTCTAGCTCGCTCGCGCTCCCTCTCCCCGGGCCGTGGAAAGGATCCCACTTCCGGTGGGGTGTCATGGCGGCGTCTCGGACTGTGATGGCTGTGGGGAGACGGCGCTAGTGGGGAGAGCGACCAAGAGGCCCCCTCCCCTCCCCGGGTCCCCTTCCCCTATCCCCCTCCCCCCAGCCTCCTTGCCAACGCCCCCTTTCCCTCTCCCCCTCCCGCTCGGCGCTGACCCCCCATCCCCACCCCCGTGGGAACACTGGGAGCCTGCACTCCACAGACCCTCTCCTTGCCTCTTCCCTCACCTCAGCCTCCGCTCCCCGCCCTCTTCCCGGCCCAGGGCGCCGGCCCACCCTTCCCTCCGCCGCCCCCCGGCCGCGGGGAGGACGTGGCCGCGCACAGGCCGGTGGAATGGGTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGGTAACCGGCCCGTGGCGGGCGGGAGGTGGGAGCGGAGTGGGGGTGGGGACAGAGTAGGTGAGGGGAGGTAGGAGCGGCCGCCTCCCCCGCGGCTGCCTCAGGCTCTGGAGGAAAGGAAGGGAAGGGAAGAGAAGGGAAGGGGGGATAAGTGGGGGTGGCCAAGGCGGGAGGTGAGGGGTAGGAGGGGACAGCTGGGAGCTTGGGCACCCTTTCCCTCCTAAGTCGGGGGGTGGGGCCTTGTCCCTGACCAGCCTCCGACCCTCCATCCCCTTTATCCCAGCCCTTCCGCTTGGAAATGGGGATGAGTGACCTGGGGGCGCCTTTAGGGGCGCGCCATCTGGATTTAATAATTACCCCCTTACTTTTGTTTTTGAGCAGAGGTGGGTAACGTTTAGGGGTTCTCTCTTCCTCTTCCCTCCGTGACCCTCCTAACTGGGGACGAGCGAACCCTAAGGCCTGTCTTATATACCCTCAATAGGAGAACGATAACATTCCGCCCCTCCCCCAGTTTCTTCAGCTTCCTCTCCTGGAGGGGGAAGAGCAGAAGAAAGCAAGGAAGGCACAGGTTTTCTTACTTTCTGCTCCATCGTCTCATCCTGCCCCGAGAGCTTCAAGTGCACACTCACTGCACATCTTTGTGATGCCCTACAACGTCGTCCCCCATATCCTGATGACACAGACTGCCTTTTTTTTTTATTGCCGTTTGCAGTGGAAACCGTGGTTCTGAAATATCTTCCCCTTCCTTGATAATTGCAGTCTCTTCCCCCCCCCCTTTTTTTTTTGCCAGCGGTCTGAGGATGTGATGCATTCTCGAGTGAGAATGTTGGGGAGTAAAGGGGAGAAGGGTGAAAGGAAAGTGAGAAACTGCTTCAGAGCCACCGACAACAGAGCAAAGCCAGCTGGGATGTGGTCCTGGAGCGGATCATTCTGCTAGTGTTTGTGGTTGTTTTTGACTCTCTCCTGGTTGACAAGAGAACTTTCATTGAGAATATTTGGGATGAAAAAAAAGTTTTGTAGCTTGAGGAGGTGACTTTTTATCGCCTGAGTTTCACACAATAAATCCTGGGGCTGATTAGAATAAATGCACACATAGCCTTTTGTCAGTGGAAATTGGTTTAACTTTGTGTTGCTGTAGGTAGTTGGGGATGGTTTAAGGGATGCTTTCTGCAGCTGTGGGTGCAGTGGGCTTCCTGTGATGGGGGAATTGTTTAAGATTGAGTCAACCTATTTTGTTTACTGGATATAATGGTAAAACATTATGGGAGCTGAAGGGGTGGGGGAAGAGCTCTTCTGTTATTTGATGCATAAACATTTCTTTACGGGACTCAGCGTTTCAGACCTACCTGGAAAATATCTTGGAATAGACAGAGGAAGTTGAGAAGAAGCTATGTAGATAAAATAGAGTTATGAAGCTGTCAGAGACTTGAAGGAATTGTTTTATCCATTCGTATGCTTCCAGACCCAAAGGCATCTAAACTAAACTACTAATCCATCTGAAGTATAATGTTACTGCATATAAAAGATTACATTATTGATAGAGCGTTAGATTTAAAACTTGGTAGAAAAGACTCTGTAATTTTAAGAAAGGATTTAAAAGGCACATAGAAGACTTCCAAAGCTGAACCTTGTGGACAGCAGAATCTGGATGTAGGAAATTGAAGGATCCACGCCGCAATTCTCCTTAAATTTTAAAAATTAAAAATTTTTTTCAGTTTTTTCTTAATTTTATTTTTTTACTTCTTACCTGTTCATCTCTAGGCTTATTTGCCATATTGGAAAAAGATACTTAAGAGAGGAATGATTTTGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGC 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Task1_train_23898 | A variant has been detected on Chromosome 17 in LOC111811965, MIR4733HG, NF1 (NF1 (neurofibromin 1) promoter region| MIR4733 host gene| neurofibromin 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Cardiovascular phenotype | GGGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCTGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACACCGTCTCTACTAAAAATACAAAAATTAGCCGGCTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCACTTCAACCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCTCTGCACTCCAGCCTGGGTGACAGGGTGAGACTCTGTCTTAAAAAAAAAAAAAAAAAATTAGTCATTCCAAAGTCCAATGTCAGACATAGATTATCCGTTGTTTTGGATGTAATCCTCTTCCTGGAAAACTGGCACAACCCAATTACACATGAAATCCTTTCAACTCTGGTATTGGAGGTATAGGGAAGGACTTTGTTTTAGGAGACCCATAGTCTACCTCTATTGTTCTAGGAGTTAAACCACGTTGGTTTACATCCTGACTTTGCCACCTGTCAACTCAGACCTTGGGCAAATCAAAGGTCTGAGGGAGGAGTGCAGGCTCCCAGCGTTCCCACGGGGGTGGGGACGTGACGTATTCATCAGTTCATGAAGTTAATGATATGTATTGAAAAGGTTTGTTCAAGGATTTAAATAAGACGATGAATATATTGAATTAATAATGAATGCAAGGCCTTAAAGGTGTTTTGAGGGTGGTGAAACTTGAATCTCTCATCAACTGTGCAATAGTTATATTAACTTGGATGGCTATGAGTTTTGCAGAGGAAAGCTGGGCTTAAATCCCAATGCTAGACCTGGTGGCTAGACCTTGATTGCCACCGGGTCTAGCATTGGGATTTAAGCGACCTCTAAAAAAAAAAAATCACGGAATCTCTCTTTGGCCTTCCTTTTTTGTTTCTCAGCAGTCTACCAAGCTACGAAGAACCTGAAAATCGGAGGTCGTGTACCTTATTTTTTCTGAGAGCTTAAGCTGAGAGCACAGCCTCCCCAGGAGATTAGCGGCAGAGATCCGCGCGCTGGGAGAAAGGCTAGCCCCAGGGCGCCCTAACTTCCAACTCCGGGAGCAATCCAAACCCGGAGGCCGGCGGGGGAGGGGACAGCTGTAGGGGGCGGTGGGGATGGGAGTGGATGCTCCCGGGTCAGCTCTGGCACTCGCCAGCTGAGCCCAGCGCCAGTCTAGGTGAGCCCCACGGCGGTGAGGGACGCTCGCCAGACGGCCCAGAGGAGTTAGATGACGTCACCTCCAGGAGGACTCGCTTTTTCATTAATGAAACCGGCCGGCGCGGGCGCATGCGCGGCAGGCCGCCTTCCCTCTCGCTTCCCCCTCCCCTTTCCCAGCCGCGCTCTCAATCTCTAGCTCGCTCGCGCTCCCTCTCCCCGGGCCGTGGAAAGGATCCCACTTCCGGTGGGGTGTCATGGCGGCGTCTCGGACTGTGATGGCTGTGGGGAGACGGCGCTAGTGGGGAGAGCGACCAAGAGGCCCCCTCCCCTCCCCGGGTCCCCTTCCCCTATCCCCCTCCCCCCAGCCTCCTTGCCAACGCCCCCTTTCCCTCTCCCCCTCCCGCTCGGCGCTGACCCCCCATCCCCACCCCCGTGGGAACACTGGGAGCCTGCACTCCACAGACCCTCTCCTTGCCTCTTCCCTCACCTCAGCCTCCGCTCCCCGCCCTCTTCCCGGCCCAGGGCGCCGGCCCACCCTTCCCTCCGCCGCCCCCCGGCCGCGGGGAGGACATGGCCGCGCACAGGCCGGTGGAATGGGTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGGTAACCGGCCCGTGGCGGGCGGGAGGTGGGAGCGGAGTGGGGGTGGGGACAGAGTAGGTGAGGGGAGGTAGGAGCGGCCGCCTCCCCCGCGGCTGCCTCAGGCTCTGGAGGAAAGGAAGGGAAGGGAAGAGAAGGGAAGGGGGGATAAGTGGGGGTGGCCAAGGCGGGAGGTGAGGGGTAGGAGGGGACAGCTGGGAGCTTGGGCACCCTTTCCCTCCTAAGTCGGGGGGTGGGGCCTTGTCCCTGACCAGCCTCCGACCCTCCATCCCCTTTATCCCAGCCCTTCCGCTTGGAAATGGGGATGAGTGACCTGGGGGCGCCTTTAGGGGCGCGCCATCTGGATTTAATAATTACCCCCTTACTTTTGTTTTTGAGCAGAGGTGGGTAACGTTTAGGGGTTCTCTCTTCCTCTTCCCTCCGTGACCCTCCTAACTGGGGACGAGCGAACCCTAAGGCCTGTCTTATATACCCTCAATAGGAGAACGATAACATTCCGCCCCTCCCCCAGTTTCTTCAGCTTCCTCTCCTGGAGGGGGAAGAGCAGAAGAAAGCAAGGAAGGCACAGGTTTTCTTACTTTCTGCTCCATCGTCTCATCCTGCCCCGAGAGCTTCAAGTGCACACTCACTGCACATCTTTGTGATGCCCTACAACGTCGTCCCCCATATCCTGATGACACAGACTGCCTTTTTTTTTTATTGCCGTTTGCAGTGGAAACCGTGGTTCTGAAATATCTTCCCCTTCCTTGATAATTGCAGTCTCTTCCCCCCCCCCTTTTTTTTTTGCCAGCGGTCTGAGGATGTGATGCATTCTCGAGTGAGAATGTTGGGGAGTAAAGGGGAGAAGGGTGAAAGGAAAGTGAGAAACTGCTTCAGAGCCACCGACAACAGAGCAAAGCCAGCTGGGATGTGGTCCTGGAGCGGATCATTCTGCTAGTGTTTGTGGTTGTTTTTGACTCTCTCCTGGTTGACAAGAGAACTTTCATTGAGAATATTTGGGATGAAAAAAAAGTTTTGTAGCTTGAGGAGGTGACTTTTTATCGCCTGAGTTTCACACAATAAATCCTGGGGCTGATTAGAATAAATGCACACATAGCCTTTTGTCAGTGGAAATTGGTTTAACTTTGTGTTGCTGTAGGTAGTTGGGGATGGTTTAAGGGATGCTTTCTGCAGCTGTGGGTGCAGTGGGCTTCCTGTGATGGGGGAATTGTTTAAGATTGAGTCAACCTATTTTGTTTACTGGATATAATGGTAAAACATTATGGGAGCTGAAGGGGTGGGGGAAGAGCTCTTCTGTTATTTGATGCATAAACATTTCTTTACGGGACTCAGCGTTTCAGACCTACCTGGAAAATATCTTGGAATAGACAGAGGAAGTTGAGAAGAAGCTATGTAGATAAAATAGAGTTATGAAGCTGTCAGAGACTTGAAGGAATTGTTTTATCCATTCGTATGCTTCCAGACCCAAAGGCATCTAAACTAAACTACTAATCCATCTGAAGTATAATGTTACTGCATATAAAAGATTACATTATTGATAGAGCGTTAGATTTAAAACTTGGTAGAAAAGACTCTGTAATTTTAAGAAAGGATTTAAAAGGCACATAGAAGACTTCCAAAGCTGAACCTTGTGGACAGCAGAATCTGGATGTAGGAAATTGAAGGATCCACGCCGCAATTCTCCTTAAATTTTAAAAATTAAAAATTTTTTTCAGTTTTTTCTTAATTTTATTTTTTTACTTCTTACCTGTTCATCTCTAGGCTTATTTGCCATATTGGAAAAAGATACTTAAGAGAGGAATGATTTTGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGC 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GGGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCTGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACACCGTCTCTACTAAAAATACAAAAATTAGCCGGCTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCACTTCAACCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCTCTGCACTCCAGCCTGGGTGACAGGGTGAGACTCTGTCTTAAAAAAAAAAAAAAAAAATTAGTCATTCCAAAGTCCAATGTCAGACATAGATTATCCGTTGTTTTGGATGTAATCCTCTTCCTGGAAAACTGGCACAACCCAATTACACATGAAATCCTTTCAACTCTGGTATTGGAGGTATAGGGAAGGACTTTGTTTTAGGAGACCCATAGTCTACCTCTATTGTTCTAGGAGTTAAACCACGTTGGTTTACATCCTGACTTTGCCACCTGTCAACTCAGACCTTGGGCAAATCAAAGGTCTGAGGGAGGAGTGCAGGCTCCCAGCGTTCCCACGGGGGTGGGGACGTGACGTATTCATCAGTTCATGAAGTTAATGATATGTATTGAAAAGGTTTGTTCAAGGATTTAAATAAGACGATGAATATATTGAATTAATAATGAATGCAAGGCCTTAAAGGTGTTTTGAGGGTGGTGAAACTTGAATCTCTCATCAACTGTGCAATAGTTATATTAACTTGGATGGCTATGAGTTTTGCAGAGGAAAGCTGGGCTTAAATCCCAATGCTAGACCTGGTGGCTAGACCTTGATTGCCACCGGGTCTAGCATTGGGATTTAAGCGACCTCTAAAAAAAAAAAATCACGGAATCTCTCTTTGGCCTTCCTTTTTTGTTTCTCAGCAGTCTACCAAGCTACGAAGAACCTGAAAATCGGAGGTCGTGTACCTTATTTTTTCTGAGAGCTTAAGCTGAGAGCACAGCCTCCCCAGGAGATTAGCGGCAGAGATCCGCGCGCTGGGAGAAAGGCTAGCCCCAGGGCGCCCTAACTTCCAACTCCGGGAGCAATCCAAACCCGGAGGCCGGCGGGGGAGGGGACAGCTGTAGGGGGCGGTGGGGATGGGAGTGGATGCTCCCGGGTCAGCTCTGGCACTCGCCAGCTGAGCCCAGCGCCAGTCTAGGTGAGCCCCACGGCGGTGAGGGACGCTCGCCAGACGGCCCAGAGGAGTTAGATGACGTCACCTCCAGGAGGACTCGCTTTTTCATTAATGAAACCGGCCGGCGCGGGCGCATGCGCGGCAGGCCGCCTTCCCTCTCGCTTCCCCCTCCCCTTTCCCAGCCGCGCTCTCAATCTCTAGCTCGCTCGCGCTCCCTCTCCCCGGGCCGTGGAAAGGATCCCACTTCCGGTGGGGTGTCATGGCGGCGTCTCGGACTGTGATGGCTGTGGGGAGACGGCGCTAGTGGGGAGAGCGACCAAGAGGCCCCCTCCCCTCCCCGGGTCCCCTTCCCCTATCCCCCTCCCCCCAGCCTCCTTGCCAACGCCCCCTTTCCCTCTCCCCCTCCCGCTCGGCGCTGACCCCCCATCCCCACCCCCGTGGGAACACTGGGAGCCTGCACTCCACAGACCCTCTCCTTGCCTCTTCCCTCACCTCAGCCTCCGCTCCCCGCCCTCTTCCCGGCCCAGGGCGCCGGCCCACCCTTCCCTCCGCCGCCCCCCGGCCGCGGGGAGGACGTGGCCGCGCACAGGCCGGTGGAATGGGTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGGTAACCGGCCCGTGGCGGGCGGGAGGTGGGAGCGGAGTGGGGGTGGGGACAGAGTAGGTGAGGGGAGGTAGGAGCGGCCGCCTCCCCCGCGGCTGCCTCAGGCTCTGGAGGAAAGGAAGGGAAGGGAAGAGAAGGGAAGGGGGGATAAGTGGGGGTGGCCAAGGCGGGAGGTGAGGGGTAGGAGGGGACAGCTGGGAGCTTGGGCACCCTTTCCCTCCTAAGTCGGGGGGTGGGGCCTTGTCCCTGACCAGCCTCCGACCCTCCATCCCCTTTATCCCAGCCCTTCCGCTTGGAAATGGGGATGAGTGACCTGGGGGCGCCTTTAGGGGCGCGCCATCTGGATTTAATAATTACCCCCTTACTTTTGTTTTTGAGCAGAGGTGGGTAACGTTTAGGGGTTCTCTCTTCCTCTTCCCTCCGTGACCCTCCTAACTGGGGACGAGCGAACCCTAAGGCCTGTCTTATATACCCTCAATAGGAGAACGATAACATTCCGCCCCTCCCCCAGTTTCTTCAGCTTCCTCTCCTGGAGGGGGAAGAGCAGAAGAAAGCAAGGAAGGCACAGGTTTTCTTACTTTCTGCTCCATCGTCTCATCCTGCCCCGAGAGCTTCAAGTGCACACTCACTGCACATCTTTGTGATGCCCTACAACGTCGTCCCCCATATCCTGATGACACAGACTGCCTTTTTTTTTTATTGCCGTTTGCAGTGGAAACCGTGGTTCTGAAATATCTTCCCCTTCCTTGATAATTGCAGTCTCTTCCCCCCCCCCTTTTTTTTTTGCCAGCGGTCTGAGGATGTGATGCATTCTCGAGTGAGAATGTTGGGGAGTAAAGGGGAGAAGGGTGAAAGGAAAGTGAGAAACTGCTTCAGAGCCACCGACAACAGAGCAAAGCCAGCTGGGATGTGGTCCTGGAGCGGATCATTCTGCTAGTGTTTGTGGTTGTTTTTGACTCTCTCCTGGTTGACAAGAGAACTTTCATTGAGAATATTTGGGATGAAAAAAAAGTTTTGTAGCTTGAGGAGGTGACTTTTTATCGCCTGAGTTTCACACAATAAATCCTGGGGCTGATTAGAATAAATGCACACATAGCCTTTTGTCAGTGGAAATTGGTTTAACTTTGTGTTGCTGTAGGTAGTTGGGGATGGTTTAAGGGATGCTTTCTGCAGCTGTGGGTGCAGTGGGCTTCCTGTGATGGGGGAATTGTTTAAGATTGAGTCAACCTATTTTGTTTACTGGATATAATGGTAAAACATTATGGGAGCTGAAGGGGTGGGGGAAGAGCTCTTCTGTTATTTGATGCATAAACATTTCTTTACGGGACTCAGCGTTTCAGACCTACCTGGAAAATATCTTGGAATAGACAGAGGAAGTTGAGAAGAAGCTATGTAGATAAAATAGAGTTATGAAGCTGTCAGAGACTTGAAGGAATTGTTTTATCCATTCGTATGCTTCCAGACCCAAAGGCATCTAAACTAAACTACTAATCCATCTGAAGTATAATGTTACTGCATATAAAAGATTACATTATTGATAGAGCGTTAGATTTAAAACTTGGTAGAAAAGACTCTGTAATTTTAAGAAAGGATTTAAAAGGCACATAGAAGACTTCCAAAGCTGAACCTTGTGGACAGCAGAATCTGGATGTAGGAAATTGAAGGATCCACGCCGCAATTCTCCTTAAATTTTAAAAATTAAAAATTTTTTTCAGTTTTTTCTTAATTTTATTTTTTTACTTCTTACCTGTTCATCTCTAGGCTTATTTGCCATATTGGAAAAAGATACTTAAGAGAGGAATGATTTTGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGC 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Task1_train_23899 | Gene LOC111811965, MIR4733HG, NF1 (NF1 (neurofibromin 1) promoter region| MIR4733 host gene| neurofibromin 1), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Neurofibromatosis, type 1 | GGGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCTGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACACCGTCTCTACTAAAAATACAAAAATTAGCCGGCTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCACTTCAACCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCTCTGCACTCCAGCCTGGGTGACAGGGTGAGACTCTGTCTTAAAAAAAAAAAAAAAAAATTAGTCATTCCAAAGTCCAATGTCAGACATAGATTATCCGTTGTTTTGGATGTAATCCTCTTCCTGGAAAACTGGCACAACCCAATTACACATGAAATCCTTTCAACTCTGGTATTGGAGGTATAGGGAAGGACTTTGTTTTAGGAGACCCATAGTCTACCTCTATTGTTCTAGGAGTTAAACCACGTTGGTTTACATCCTGACTTTGCCACCTGTCAACTCAGACCTTGGGCAAATCAAAGGTCTGAGGGAGGAGTGCAGGCTCCCAGCGTTCCCACGGGGGTGGGGACGTGACGTATTCATCAGTTCATGAAGTTAATGATATGTATTGAAAAGGTTTGTTCAAGGATTTAAATAAGACGATGAATATATTGAATTAATAATGAATGCAAGGCCTTAAAGGTGTTTTGAGGGTGGTGAAACTTGAATCTCTCATCAACTGTGCAATAGTTATATTAACTTGGATGGCTATGAGTTTTGCAGAGGAAAGCTGGGCTTAAATCCCAATGCTAGACCTGGTGGCTAGACCTTGATTGCCACCGGGTCTAGCATTGGGATTTAAGCGACCTCTAAAAAAAAAAAATCACGGAATCTCTCTTTGGCCTTCCTTTTTTGTTTCTCAGCAGTCTACCAAGCTACGAAGAACCTGAAAATCGGAGGTCGTGTACCTTATTTTTTCTGAGAGCTTAAGCTGAGAGCACAGCCTCCCCAGGAGATTAGCGGCAGAGATCCGCGCGCTGGGAGAAAGGCTAGCCCCAGGGCGCCCTAACTTCCAACTCCGGGAGCAATCCAAACCCGGAGGCCGGCGGGGGAGGGGACAGCTGTAGGGGGCGGTGGGGATGGGAGTGGATGCTCCCGGGTCAGCTCTGGCACTCGCCAGCTGAGCCCAGCGCCAGTCTAGGTGAGCCCCACGGCGGTGAGGGACGCTCGCCAGACGGCCCAGAGGAGTTAGATGACGTCACCTCCAGGAGGACTCGCTTTTTCATTAATGAAACCGGCCGGCGCGGGCGCATGCGCGGCAGGCCGCCTTCCCTCTCGCTTCCCCCTCCCCTTTCCCAGCCGCGCTCTCAATCTCTAGCTCGCTCGCGCTCCCTCTCCCCGGGCCGTGGAAAGGATCCCACTTCCGGTGGGGTGTCATGGCGGCGTCTCGGACTGTGATGGCTGTGGGGAGACGGCGCTAGTGGGGAGAGCGACCAAGAGGCCCCCTCCCCTCCCCGGGTCCCCTTCCCCTATCCCCCTCCCCCCAGCCTCCTTGCCAACGCCCCCTTTCCCTCTCCCCCTCCCGCTCGGCGCTGACCCCCCATCCCCACCCCCGTGGGAACACTGGGAGCCTGCACTCCACAGACCCTCTCCTTGCCTCTTCCCTCACCTCAGCCTCCGCTCCCCGCCCTCTTCCCGGCCCAGGGCGCCGGCCCACCCTTCCCTCCGCCGCCCCCCGGCCGCGGGGAGGACATGGCCGCGCACAGGCCGGTGGAATGGGTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGGTAACCGGCCCGTGGCGGGCGGGAGGTGGGAGCGGAGTGGGGGTGGGGACAGAGTAGGTGAGGGGAGGTAGGAGCGGCCGCCTCCCCCGCGGCTGCCTCAGGCTCTGGAGGAAAGGAAGGGAAGGGAAGAGAAGGGAAGGGGGGATAAGTGGGGGTGGCCAAGGCGGGAGGTGAGGGGTAGGAGGGGACAGCTGGGAGCTTGGGCACCCTTTCCCTCCTAAGTCGGGGGGTGGGGCCTTGTCCCTGACCAGCCTCCGACCCTCCATCCCCTTTATCCCAGCCCTTCCGCTTGGAAATGGGGATGAGTGACCTGGGGGCGCCTTTAGGGGCGCGCCATCTGGATTTAATAATTACCCCCTTACTTTTGTTTTTGAGCAGAGGTGGGTAACGTTTAGGGGTTCTCTCTTCCTCTTCCCTCCGTGACCCTCCTAACTGGGGACGAGCGAACCCTAAGGCCTGTCTTATATACCCTCAATAGGAGAACGATAACATTCCGCCCCTCCCCCAGTTTCTTCAGCTTCCTCTCCTGGAGGGGGAAGAGCAGAAGAAAGCAAGGAAGGCACAGGTTTTCTTACTTTCTGCTCCATCGTCTCATCCTGCCCCGAGAGCTTCAAGTGCACACTCACTGCACATCTTTGTGATGCCCTACAACGTCGTCCCCCATATCCTGATGACACAGACTGCCTTTTTTTTTTATTGCCGTTTGCAGTGGAAACCGTGGTTCTGAAATATCTTCCCCTTCCTTGATAATTGCAGTCTCTTCCCCCCCCCCTTTTTTTTTTGCCAGCGGTCTGAGGATGTGATGCATTCTCGAGTGAGAATGTTGGGGAGTAAAGGGGAGAAGGGTGAAAGGAAAGTGAGAAACTGCTTCAGAGCCACCGACAACAGAGCAAAGCCAGCTGGGATGTGGTCCTGGAGCGGATCATTCTGCTAGTGTTTGTGGTTGTTTTTGACTCTCTCCTGGTTGACAAGAGAACTTTCATTGAGAATATTTGGGATGAAAAAAAAGTTTTGTAGCTTGAGGAGGTGACTTTTTATCGCCTGAGTTTCACACAATAAATCCTGGGGCTGATTAGAATAAATGCACACATAGCCTTTTGTCAGTGGAAATTGGTTTAACTTTGTGTTGCTGTAGGTAGTTGGGGATGGTTTAAGGGATGCTTTCTGCAGCTGTGGGTGCAGTGGGCTTCCTGTGATGGGGGAATTGTTTAAGATTGAGTCAACCTATTTTGTTTACTGGATATAATGGTAAAACATTATGGGAGCTGAAGGGGTGGGGGAAGAGCTCTTCTGTTATTTGATGCATAAACATTTCTTTACGGGACTCAGCGTTTCAGACCTACCTGGAAAATATCTTGGAATAGACAGAGGAAGTTGAGAAGAAGCTATGTAGATAAAATAGAGTTATGAAGCTGTCAGAGACTTGAAGGAATTGTTTTATCCATTCGTATGCTTCCAGACCCAAAGGCATCTAAACTAAACTACTAATCCATCTGAAGTATAATGTTACTGCATATAAAAGATTACATTATTGATAGAGCGTTAGATTTAAAACTTGGTAGAAAAGACTCTGTAATTTTAAGAAAGGATTTAAAAGGCACATAGAAGACTTCCAAAGCTGAACCTTGTGGACAGCAGAATCTGGATGTAGGAAATTGAAGGATCCACGCCGCAATTCTCCTTAAATTTTAAAAATTAAAAATTTTTTTCAGTTTTTTCTTAATTTTATTTTTTTACTTCTTACCTGTTCATCTCTAGGCTTATTTGCCATATTGGAAAAAGATACTTAAGAGAGGAATGATTTTGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGC 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GGGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCTGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACACCGTCTCTACTAAAAATACAAAAATTAGCCGGCTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCACTTCAACCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCTCTGCACTCCAGCCTGGGTGACAGGGTGAGACTCTGTCTTAAAAAAAAAAAAAAAAAATTAGTCATTCCAAAGTCCAATGTCAGACATAGATTATCCGTTGTTTTGGATGTAATCCTCTTCCTGGAAAACTGGCACAACCCAATTACACATGAAATCCTTTCAACTCTGGTATTGGAGGTATAGGGAAGGACTTTGTTTTAGGAGACCCATAGTCTACCTCTATTGTTCTAGGAGTTAAACCACGTTGGTTTACATCCTGACTTTGCCACCTGTCAACTCAGACCTTGGGCAAATCAAAGGTCTGAGGGAGGAGTGCAGGCTCCCAGCGTTCCCACGGGGGTGGGGACGTGACGTATTCATCAGTTCATGAAGTTAATGATATGTATTGAAAAGGTTTGTTCAAGGATTTAAATAAGACGATGAATATATTGAATTAATAATGAATGCAAGGCCTTAAAGGTGTTTTGAGGGTGGTGAAACTTGAATCTCTCATCAACTGTGCAATAGTTATATTAACTTGGATGGCTATGAGTTTTGCAGAGGAAAGCTGGGCTTAAATCCCAATGCTAGACCTGGTGGCTAGACCTTGATTGCCACCGGGTCTAGCATTGGGATTTAAGCGACCTCTAAAAAAAAAAAATCACGGAATCTCTCTTTGGCCTTCCTTTTTTGTTTCTCAGCAGTCTACCAAGCTACGAAGAACCTGAAAATCGGAGGTCGTGTACCTTATTTTTTCTGAGAGCTTAAGCTGAGAGCACAGCCTCCCCAGGAGATTAGCGGCAGAGATCCGCGCGCTGGGAGAAAGGCTAGCCCCAGGGCGCCCTAACTTCCAACTCCGGGAGCAATCCAAACCCGGAGGCCGGCGGGGGAGGGGACAGCTGTAGGGGGCGGTGGGGATGGGAGTGGATGCTCCCGGGTCAGCTCTGGCACTCGCCAGCTGAGCCCAGCGCCAGTCTAGGTGAGCCCCACGGCGGTGAGGGACGCTCGCCAGACGGCCCAGAGGAGTTAGATGACGTCACCTCCAGGAGGACTCGCTTTTTCATTAATGAAACCGGCCGGCGCGGGCGCATGCGCGGCAGGCCGCCTTCCCTCTCGCTTCCCCCTCCCCTTTCCCAGCCGCGCTCTCAATCTCTAGCTCGCTCGCGCTCCCTCTCCCCGGGCCGTGGAAAGGATCCCACTTCCGGTGGGGTGTCATGGCGGCGTCTCGGACTGTGATGGCTGTGGGGAGACGGCGCTAGTGGGGAGAGCGACCAAGAGGCCCCCTCCCCTCCCCGGGTCCCCTTCCCCTATCCCCCTCCCCCCAGCCTCCTTGCCAACGCCCCCTTTCCCTCTCCCCCTCCCGCTCGGCGCTGACCCCCCATCCCCACCCCCGTGGGAACACTGGGAGCCTGCACTCCACAGACCCTCTCCTTGCCTCTTCCCTCACCTCAGCCTCCGCTCCCCGCCCTCTTCCCGGCCCAGGGCGCCGGCCCACCCTTCCCTCCGCCGCCCCCCGGCCGCGGGGAGGACTTGGCCGCGCACAGGCCGGTGGAATGGGTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGGTAACCGGCCCGTGGCGGGCGGGAGGTGGGAGCGGAGTGGGGGTGGGGACAGAGTAGGTGAGGGGAGGTAGGAGCGGCCGCCTCCCCCGCGGCTGCCTCAGGCTCTGGAGGAAAGGAAGGGAAGGGAAGAGAAGGGAAGGGGGGATAAGTGGGGGTGGCCAAGGCGGGAGGTGAGGGGTAGGAGGGGACAGCTGGGAGCTTGGGCACCCTTTCCCTCCTAAGTCGGGGGGTGGGGCCTTGTCCCTGACCAGCCTCCGACCCTCCATCCCCTTTATCCCAGCCCTTCCGCTTGGAAATGGGGATGAGTGACCTGGGGGCGCCTTTAGGGGCGCGCCATCTGGATTTAATAATTACCCCCTTACTTTTGTTTTTGAGCAGAGGTGGGTAACGTTTAGGGGTTCTCTCTTCCTCTTCCCTCCGTGACCCTCCTAACTGGGGACGAGCGAACCCTAAGGCCTGTCTTATATACCCTCAATAGGAGAACGATAACATTCCGCCCCTCCCCCAGTTTCTTCAGCTTCCTCTCCTGGAGGGGGAAGAGCAGAAGAAAGCAAGGAAGGCACAGGTTTTCTTACTTTCTGCTCCATCGTCTCATCCTGCCCCGAGAGCTTCAAGTGCACACTCACTGCACATCTTTGTGATGCCCTACAACGTCGTCCCCCATATCCTGATGACACAGACTGCCTTTTTTTTTTATTGCCGTTTGCAGTGGAAACCGTGGTTCTGAAATATCTTCCCCTTCCTTGATAATTGCAGTCTCTTCCCCCCCCCCTTTTTTTTTTGCCAGCGGTCTGAGGATGTGATGCATTCTCGAGTGAGAATGTTGGGGAGTAAAGGGGAGAAGGGTGAAAGGAAAGTGAGAAACTGCTTCAGAGCCACCGACAACAGAGCAAAGCCAGCTGGGATGTGGTCCTGGAGCGGATCATTCTGCTAGTGTTTGTGGTTGTTTTTGACTCTCTCCTGGTTGACAAGAGAACTTTCATTGAGAATATTTGGGATGAAAAAAAAGTTTTGTAGCTTGAGGAGGTGACTTTTTATCGCCTGAGTTTCACACAATAAATCCTGGGGCTGATTAGAATAAATGCACACATAGCCTTTTGTCAGTGGAAATTGGTTTAACTTTGTGTTGCTGTAGGTAGTTGGGGATGGTTTAAGGGATGCTTTCTGCAGCTGTGGGTGCAGTGGGCTTCCTGTGATGGGGGAATTGTTTAAGATTGAGTCAACCTATTTTGTTTACTGGATATAATGGTAAAACATTATGGGAGCTGAAGGGGTGGGGGAAGAGCTCTTCTGTTATTTGATGCATAAACATTTCTTTACGGGACTCAGCGTTTCAGACCTACCTGGAAAATATCTTGGAATAGACAGAGGAAGTTGAGAAGAAGCTATGTAGATAAAATAGAGTTATGAAGCTGTCAGAGACTTGAAGGAATTGTTTTATCCATTCGTATGCTTCCAGACCCAAAGGCATCTAAACTAAACTACTAATCCATCTGAAGTATAATGTTACTGCATATAAAAGATTACATTATTGATAGAGCGTTAGATTTAAAACTTGGTAGAAAAGACTCTGTAATTTTAAGAAAGGATTTAAAAGGCACATAGAAGACTTCCAAAGCTGAACCTTGTGGACAGCAGAATCTGGATGTAGGAAATTGAAGGATCCACGCCGCAATTCTCCTTAAATTTTAAAAATTAAAAATTTTTTTCAGTTTTTTCTTAATTTTATTTTTTTACTTCTTACCTGTTCATCTCTAGGCTTATTTGCCATATTGGAAAAAGATACTTAAGAGAGGAATGATTTTGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGC 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