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_23600 | This mutation is located in gene TP53 (tumor protein p53) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hereditary cancer-predisposing syndrome | TAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCT | TAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTAGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCT 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Task1_train_23601 | Consider this mutation in TP53 (tumor protein p53) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Hereditary cancer-predisposing syndrome | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA 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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGGGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA 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Task1_train_23602 | This variant affects gene TP53 (tumor protein p53) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Adrenocortical carcinoma, hereditary | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA 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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGGGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA 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Task1_train_23603 | A variant was discovered in gene TP53 (tumor protein p53), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Familial cancer of breast | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA 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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGGGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA 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Task1_train_23604 | This variant lies on Chromosome 17 and affects the gene TP53 (tumor protein p53). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Glioma susceptibility 1 | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA 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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGGGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA 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Task1_train_23605 | Here is a genetic alteration in TP53 (tumor protein p53) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Bone marrow failure syndrome 5 | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA 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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGGGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA 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Task1_train_23606 | A sequence alteration has been identified in TP53 (tumor protein p53) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Hepatocellular carcinoma | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA 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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGGGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA 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Task1_train_23607 | This mutation occurs in TP53 (tumor protein p53) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Colorectal cancer | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA 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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGGGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA 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Task1_train_23608 | A variant affecting Chromosome 17, within the gene TP53 (tumor protein p53), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Carcinoma of pancreas | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA 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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGGGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA 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Task1_train_23609 | The variant affects gene TP53 (tumor protein p53), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Choroid plexus papilloma | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA 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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGGGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA 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Task1_train_23610 | The gene TP53 (tumor protein p53), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Basal cell carcinoma, susceptibility to, 7 | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA 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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGGGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA 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Task1_train_23611 | Given this context: Chromosome 17, gene TP53 (tumor protein p53) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Bone osteosarcoma | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA 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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGGGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA 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Task1_train_23612 | An alteration has been detected in TP53 (tumor protein p53) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Li-Fraumeni syndrome 1 | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA 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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGGGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA 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Task1_train_23613 | A sequence alteration has been identified in TP53 (tumor protein p53) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Nasopharyngeal carcinoma | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA 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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGGGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA 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Task1_train_23614 | The gene TP53 (tumor protein p53), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hereditary cancer-predisposing syndrome | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA 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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGTGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA 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Task1_train_23615 | Here is a variant affecting TP53 (tumor protein p53) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Li-Fraumeni syndrome | TATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAAT 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TATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGCAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAAT 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Task1_train_23616 | Here is a mutation in TP53 (tumor protein p53) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Li-Fraumeni syndrome 1 | TATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAAT 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TATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGTAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAAT 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Task1_train_23617 | This variant impacts the gene TP53 (tumor protein p53) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Li-Fraumeni syndrome 1 | ATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATC 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ATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGGGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATC 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Task1_train_23618 | The gene TP53 (tumor protein p53) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Li-Fraumeni syndrome | ATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATC | ATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGGGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATC 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Task1_train_23619 | This variant affects the gene TP53 (tumor protein p53) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hereditary cancer-predisposing syndrome | ATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATC 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ATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGGGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATC 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Task1_train_23620 | A mutation found in TP53 (tumor protein p53) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Neoplasm | ATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATC 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ATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGGGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATC 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Task1_train_23621 | A variant has been detected on Chromosome 17 in TP53 (tumor protein p53). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Adrenocortical carcinoma, hereditary | TAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATCTCTGTATGGGGAAGGACACCCCCTTGGCCCCCACCCTTCCCCACCTGATACACGGCTCCATTTCTTTGATTCCTTTCACTGCAAAGCTTCTGGAAGAACAACTGTCTCACCGCTCACCTGCCCATTCTCTTCGGACACTCCTCAGCCCTGCATTACAAACCCCTCACGAATGGCCCGTCTCGGCTTCTTTAATCTCATCTCTTAACAACCACTCCCTCTTCCCCAAAAGCTCTAGCTAGACTGGCTGCCCTTCTCTGCTAATCAACTGGTGGTTCCTTGGCTAGCCAGGAACATGGGGGTAGGCTCCTTCCCGTGCAGACTTTAAGTCATCCTATTTTAATTCACATCACCTCATTTGCATTCTCATAGCACTTACATTGTCTGATACTTTTCCTTGTTTATTTTATCTGTTTCCTCTAATAGCATATACACTTCCTAAGGGCAGGGCAGTGATCTATCTTGTTGTCTTGCTGACCAAAGTATTAGATCACAATGCCTTGCACCTGCTTGGGCTCAATAAATGTGAATAACACACAAGCCTGTTATATGAGAGGTTAAGAGAGCGAGAAAGAGCAAGGGGCAGCCCCTGTGTGGACCAGCATCTTGCACGAAGTTATGCAACTATCATCGCACCTTCTCCCAGACAAGCTTTCAAAGGCTTTGCCATGTTTTCTTTTGTTTTGTTTTTTTGTTTGTTTTTTGAGATGGAGTTTGGCTCTTTTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTAGGCTCACTGCAACCTCTGCCTTCTGGTTTCAAGCAATTCTCCTGCCTCAGCCTC 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TAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGAGGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATCTCTGTATGGGGAAGGACACCCCCTTGGCCCCCACCCTTCCCCACCTGATACACGGCTCCATTTCTTTGATTCCTTTCACTGCAAAGCTTCTGGAAGAACAACTGTCTCACCGCTCACCTGCCCATTCTCTTCGGACACTCCTCAGCCCTGCATTACAAACCCCTCACGAATGGCCCGTCTCGGCTTCTTTAATCTCATCTCTTAACAACCACTCCCTCTTCCCCAAAAGCTCTAGCTAGACTGGCTGCCCTTCTCTGCTAATCAACTGGTGGTTCCTTGGCTAGCCAGGAACATGGGGGTAGGCTCCTTCCCGTGCAGACTTTAAGTCATCCTATTTTAATTCACATCACCTCATTTGCATTCTCATAGCACTTACATTGTCTGATACTTTTCCTTGTTTATTTTATCTGTTTCCTCTAATAGCATATACACTTCCTAAGGGCAGGGCAGTGATCTATCTTGTTGTCTTGCTGACCAAAGTATTAGATCACAATGCCTTGCACCTGCTTGGGCTCAATAAATGTGAATAACACACAAGCCTGTTATATGAGAGGTTAAGAGAGCGAGAAAGAGCAAGGGGCAGCCCCTGTGTGGACCAGCATCTTGCACGAAGTTATGCAACTATCATCGCACCTTCTCCCAGACAAGCTTTCAAAGGCTTTGCCATGTTTTCTTTTGTTTTGTTTTTTTGTTTGTTTTTTGAGATGGAGTTTGGCTCTTTTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTAGGCTCACTGCAACCTCTGCCTTCTGGTTTCAAGCAATTCTCCTGCCTCAGCCTC 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Task1_train_23622 | Given a variant located on Chromosome 17 and affecting TP53 (tumor protein p53), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Hereditary cancer-predisposing syndrome | TAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATCTCTGTATGGGGAAGGACACCCCCTTGGCCCCCACCCTTCCCCACCTGATACACGGCTCCATTTCTTTGATTCCTTTCACTGCAAAGCTTCTGGAAGAACAACTGTCTCACCGCTCACCTGCCCATTCTCTTCGGACACTCCTCAGCCCTGCATTACAAACCCCTCACGAATGGCCCGTCTCGGCTTCTTTAATCTCATCTCTTAACAACCACTCCCTCTTCCCCAAAAGCTCTAGCTAGACTGGCTGCCCTTCTCTGCTAATCAACTGGTGGTTCCTTGGCTAGCCAGGAACATGGGGGTAGGCTCCTTCCCGTGCAGACTTTAAGTCATCCTATTTTAATTCACATCACCTCATTTGCATTCTCATAGCACTTACATTGTCTGATACTTTTCCTTGTTTATTTTATCTGTTTCCTCTAATAGCATATACACTTCCTAAGGGCAGGGCAGTGATCTATCTTGTTGTCTTGCTGACCAAAGTATTAGATCACAATGCCTTGCACCTGCTTGGGCTCAATAAATGTGAATAACACACAAGCCTGTTATATGAGAGGTTAAGAGAGCGAGAAAGAGCAAGGGGCAGCCCCTGTGTGGACCAGCATCTTGCACGAAGTTATGCAACTATCATCGCACCTTCTCCCAGACAAGCTTTCAAAGGCTTTGCCATGTTTTCTTTTGTTTTGTTTTTTTGTTTGTTTTTTGAGATGGAGTTTGGCTCTTTTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTAGGCTCACTGCAACCTCTGCCTTCTGGTTTCAAGCAATTCTCCTGCCTCAGCCTC 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TAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGAGGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATCTCTGTATGGGGAAGGACACCCCCTTGGCCCCCACCCTTCCCCACCTGATACACGGCTCCATTTCTTTGATTCCTTTCACTGCAAAGCTTCTGGAAGAACAACTGTCTCACCGCTCACCTGCCCATTCTCTTCGGACACTCCTCAGCCCTGCATTACAAACCCCTCACGAATGGCCCGTCTCGGCTTCTTTAATCTCATCTCTTAACAACCACTCCCTCTTCCCCAAAAGCTCTAGCTAGACTGGCTGCCCTTCTCTGCTAATCAACTGGTGGTTCCTTGGCTAGCCAGGAACATGGGGGTAGGCTCCTTCCCGTGCAGACTTTAAGTCATCCTATTTTAATTCACATCACCTCATTTGCATTCTCATAGCACTTACATTGTCTGATACTTTTCCTTGTTTATTTTATCTGTTTCCTCTAATAGCATATACACTTCCTAAGGGCAGGGCAGTGATCTATCTTGTTGTCTTGCTGACCAAAGTATTAGATCACAATGCCTTGCACCTGCTTGGGCTCAATAAATGTGAATAACACACAAGCCTGTTATATGAGAGGTTAAGAGAGCGAGAAAGAGCAAGGGGCAGCCCCTGTGTGGACCAGCATCTTGCACGAAGTTATGCAACTATCATCGCACCTTCTCCCAGACAAGCTTTCAAAGGCTTTGCCATGTTTTCTTTTGTTTTGTTTTTTTGTTTGTTTTTTGAGATGGAGTTTGGCTCTTTTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTAGGCTCACTGCAACCTCTGCCTTCTGGTTTCAAGCAATTCTCCTGCCTCAGCCTC 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Task1_train_23623 | This variant affects the gene TP53 (tumor protein p53) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Li-Fraumeni syndrome 1 | TAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATCTCTGTATGGGGAAGGACACCCCCTTGGCCCCCACCCTTCCCCACCTGATACACGGCTCCATTTCTTTGATTCCTTTCACTGCAAAGCTTCTGGAAGAACAACTGTCTCACCGCTCACCTGCCCATTCTCTTCGGACACTCCTCAGCCCTGCATTACAAACCCCTCACGAATGGCCCGTCTCGGCTTCTTTAATCTCATCTCTTAACAACCACTCCCTCTTCCCCAAAAGCTCTAGCTAGACTGGCTGCCCTTCTCTGCTAATCAACTGGTGGTTCCTTGGCTAGCCAGGAACATGGGGGTAGGCTCCTTCCCGTGCAGACTTTAAGTCATCCTATTTTAATTCACATCACCTCATTTGCATTCTCATAGCACTTACATTGTCTGATACTTTTCCTTGTTTATTTTATCTGTTTCCTCTAATAGCATATACACTTCCTAAGGGCAGGGCAGTGATCTATCTTGTTGTCTTGCTGACCAAAGTATTAGATCACAATGCCTTGCACCTGCTTGGGCTCAATAAATGTGAATAACACACAAGCCTGTTATATGAGAGGTTAAGAGAGCGAGAAAGAGCAAGGGGCAGCCCCTGTGTGGACCAGCATCTTGCACGAAGTTATGCAACTATCATCGCACCTTCTCCCAGACAAGCTTTCAAAGGCTTTGCCATGTTTTCTTTTGTTTTGTTTTTTTGTTTGTTTTTTGAGATGGAGTTTGGCTCTTTTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTAGGCTCACTGCAACCTCTGCCTTCTGGTTTCAAGCAATTCTCCTGCCTCAGCCTC 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TAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGAGGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATCTCTGTATGGGGAAGGACACCCCCTTGGCCCCCACCCTTCCCCACCTGATACACGGCTCCATTTCTTTGATTCCTTTCACTGCAAAGCTTCTGGAAGAACAACTGTCTCACCGCTCACCTGCCCATTCTCTTCGGACACTCCTCAGCCCTGCATTACAAACCCCTCACGAATGGCCCGTCTCGGCTTCTTTAATCTCATCTCTTAACAACCACTCCCTCTTCCCCAAAAGCTCTAGCTAGACTGGCTGCCCTTCTCTGCTAATCAACTGGTGGTTCCTTGGCTAGCCAGGAACATGGGGGTAGGCTCCTTCCCGTGCAGACTTTAAGTCATCCTATTTTAATTCACATCACCTCATTTGCATTCTCATAGCACTTACATTGTCTGATACTTTTCCTTGTTTATTTTATCTGTTTCCTCTAATAGCATATACACTTCCTAAGGGCAGGGCAGTGATCTATCTTGTTGTCTTGCTGACCAAAGTATTAGATCACAATGCCTTGCACCTGCTTGGGCTCAATAAATGTGAATAACACACAAGCCTGTTATATGAGAGGTTAAGAGAGCGAGAAAGAGCAAGGGGCAGCCCCTGTGTGGACCAGCATCTTGCACGAAGTTATGCAACTATCATCGCACCTTCTCCCAGACAAGCTTTCAAAGGCTTTGCCATGTTTTCTTTTGTTTTGTTTTTTTGTTTGTTTTTTGAGATGGAGTTTGGCTCTTTTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTAGGCTCACTGCAACCTCTGCCTTCTGGTTTCAAGCAATTCTCCTGCCTCAGCCTC 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Task1_train_23624 | A variant was discovered in gene TP53 (tumor protein p53), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Li-Fraumeni syndrome | TAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATCTCTGTATGGGGAAGGACACCCCCTTGGCCCCCACCCTTCCCCACCTGATACACGGCTCCATTTCTTTGATTCCTTTCACTGCAAAGCTTCTGGAAGAACAACTGTCTCACCGCTCACCTGCCCATTCTCTTCGGACACTCCTCAGCCCTGCATTACAAACCCCTCACGAATGGCCCGTCTCGGCTTCTTTAATCTCATCTCTTAACAACCACTCCCTCTTCCCCAAAAGCTCTAGCTAGACTGGCTGCCCTTCTCTGCTAATCAACTGGTGGTTCCTTGGCTAGCCAGGAACATGGGGGTAGGCTCCTTCCCGTGCAGACTTTAAGTCATCCTATTTTAATTCACATCACCTCATTTGCATTCTCATAGCACTTACATTGTCTGATACTTTTCCTTGTTTATTTTATCTGTTTCCTCTAATAGCATATACACTTCCTAAGGGCAGGGCAGTGATCTATCTTGTTGTCTTGCTGACCAAAGTATTAGATCACAATGCCTTGCACCTGCTTGGGCTCAATAAATGTGAATAACACACAAGCCTGTTATATGAGAGGTTAAGAGAGCGAGAAAGAGCAAGGGGCAGCCCCTGTGTGGACCAGCATCTTGCACGAAGTTATGCAACTATCATCGCACCTTCTCCCAGACAAGCTTTCAAAGGCTTTGCCATGTTTTCTTTTGTTTTGTTTTTTTGTTTGTTTTTTGAGATGGAGTTTGGCTCTTTTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTAGGCTCACTGCAACCTCTGCCTTCTGGTTTCAAGCAATTCTCCTGCCTCAGCCTC 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TAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGAGGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATCTCTGTATGGGGAAGGACACCCCCTTGGCCCCCACCCTTCCCCACCTGATACACGGCTCCATTTCTTTGATTCCTTTCACTGCAAAGCTTCTGGAAGAACAACTGTCTCACCGCTCACCTGCCCATTCTCTTCGGACACTCCTCAGCCCTGCATTACAAACCCCTCACGAATGGCCCGTCTCGGCTTCTTTAATCTCATCTCTTAACAACCACTCCCTCTTCCCCAAAAGCTCTAGCTAGACTGGCTGCCCTTCTCTGCTAATCAACTGGTGGTTCCTTGGCTAGCCAGGAACATGGGGGTAGGCTCCTTCCCGTGCAGACTTTAAGTCATCCTATTTTAATTCACATCACCTCATTTGCATTCTCATAGCACTTACATTGTCTGATACTTTTCCTTGTTTATTTTATCTGTTTCCTCTAATAGCATATACACTTCCTAAGGGCAGGGCAGTGATCTATCTTGTTGTCTTGCTGACCAAAGTATTAGATCACAATGCCTTGCACCTGCTTGGGCTCAATAAATGTGAATAACACACAAGCCTGTTATATGAGAGGTTAAGAGAGCGAGAAAGAGCAAGGGGCAGCCCCTGTGTGGACCAGCATCTTGCACGAAGTTATGCAACTATCATCGCACCTTCTCCCAGACAAGCTTTCAAAGGCTTTGCCATGTTTTCTTTTGTTTTGTTTTTTTGTTTGTTTTTTGAGATGGAGTTTGGCTCTTTTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTAGGCTCACTGCAACCTCTGCCTTCTGGTTTCAAGCAATTCTCCTGCCTCAGCCTC 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Task1_train_23625 | This variant affects the gene TP53 (tumor protein p53) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Familial cancer of breast | TAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATCTCTGTATGGGGAAGGACACCCCCTTGGCCCCCACCCTTCCCCACCTGATACACGGCTCCATTTCTTTGATTCCTTTCACTGCAAAGCTTCTGGAAGAACAACTGTCTCACCGCTCACCTGCCCATTCTCTTCGGACACTCCTCAGCCCTGCATTACAAACCCCTCACGAATGGCCCGTCTCGGCTTCTTTAATCTCATCTCTTAACAACCACTCCCTCTTCCCCAAAAGCTCTAGCTAGACTGGCTGCCCTTCTCTGCTAATCAACTGGTGGTTCCTTGGCTAGCCAGGAACATGGGGGTAGGCTCCTTCCCGTGCAGACTTTAAGTCATCCTATTTTAATTCACATCACCTCATTTGCATTCTCATAGCACTTACATTGTCTGATACTTTTCCTTGTTTATTTTATCTGTTTCCTCTAATAGCATATACACTTCCTAAGGGCAGGGCAGTGATCTATCTTGTTGTCTTGCTGACCAAAGTATTAGATCACAATGCCTTGCACCTGCTTGGGCTCAATAAATGTGAATAACACACAAGCCTGTTATATGAGAGGTTAAGAGAGCGAGAAAGAGCAAGGGGCAGCCCCTGTGTGGACCAGCATCTTGCACGAAGTTATGCAACTATCATCGCACCTTCTCCCAGACAAGCTTTCAAAGGCTTTGCCATGTTTTCTTTTGTTTTGTTTTTTTGTTTGTTTTTTGAGATGGAGTTTGGCTCTTTTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTAGGCTCACTGCAACCTCTGCCTTCTGGTTTCAAGCAATTCTCCTGCCTCAGCCTC 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TAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGAGGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATCTCTGTATGGGGAAGGACACCCCCTTGGCCCCCACCCTTCCCCACCTGATACACGGCTCCATTTCTTTGATTCCTTTCACTGCAAAGCTTCTGGAAGAACAACTGTCTCACCGCTCACCTGCCCATTCTCTTCGGACACTCCTCAGCCCTGCATTACAAACCCCTCACGAATGGCCCGTCTCGGCTTCTTTAATCTCATCTCTTAACAACCACTCCCTCTTCCCCAAAAGCTCTAGCTAGACTGGCTGCCCTTCTCTGCTAATCAACTGGTGGTTCCTTGGCTAGCCAGGAACATGGGGGTAGGCTCCTTCCCGTGCAGACTTTAAGTCATCCTATTTTAATTCACATCACCTCATTTGCATTCTCATAGCACTTACATTGTCTGATACTTTTCCTTGTTTATTTTATCTGTTTCCTCTAATAGCATATACACTTCCTAAGGGCAGGGCAGTGATCTATCTTGTTGTCTTGCTGACCAAAGTATTAGATCACAATGCCTTGCACCTGCTTGGGCTCAATAAATGTGAATAACACACAAGCCTGTTATATGAGAGGTTAAGAGAGCGAGAAAGAGCAAGGGGCAGCCCCTGTGTGGACCAGCATCTTGCACGAAGTTATGCAACTATCATCGCACCTTCTCCCAGACAAGCTTTCAAAGGCTTTGCCATGTTTTCTTTTGTTTTGTTTTTTTGTTTGTTTTTTGAGATGGAGTTTGGCTCTTTTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTAGGCTCACTGCAACCTCTGCCTTCTGGTTTCAAGCAATTCTCCTGCCTCAGCCTC 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Task1_train_23626 | Located on Chromosome 17, this mutation impacts TP53 (tumor protein p53). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Li-Fraumeni syndrome | CCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATCTCTGTATGGGGAAGGACACCCCCTTGGCCCCCACCCTTCCCCACCTGATACACGGCTCCATTTCTTTGATTCCTTTCACTGCAAAGCTTCTGGAAGAACAACTGTCTCACCGCTCACCTGCCCATTCTCTTCGGACACTCCTCAGCCCTGCATTACAAACCCCTCACGAATGGCCCGTCTCGGCTTCTTTAATCTCATCTCTTAACAACCACTCCCTCTTCCCCAAAAGCTCTAGCTAGACTGGCTGCCCTTCTCTGCTAATCAACTGGTGGTTCCTTGGCTAGCCAGGAACATGGGGGTAGGCTCCTTCCCGTGCAGACTTTAAGTCATCCTATTTTAATTCACATCACCTCATTTGCATTCTCATAGCACTTACATTGTCTGATACTTTTCCTTGTTTATTTTATCTGTTTCCTCTAATAGCATATACACTTCCTAAGGGCAGGGCAGTGATCTATCTTGTTGTCTTGCTGACCAAAGTATTAGATCACAATGCCTTGCACCTGCTTGGGCTCAATAAATGTGAATAACACACAAGCCTGTTATATGAGAGGTTAAGAGAGCGAGAAAGAGCAAGGGGCAGCCCCTGTGTGGACCAGCATCTTGCACGAAGTTATGCAACTATCATCGCACCTTCTCCCAGACAAGCTTTCAAAGGCTTTGCCATGTTTTCTTTTGTTTTGTTTTTTTGTTTGTTTTTTGAGATGGAGTTTGGCTCTTTTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTAGGCTCACTGCAACCTCTGCCTTCTGGTTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCCCCTGCCACCATGCCTGGCTGATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTGTGGAACTCCTGACCTTGTGATCCACCTGCCTCGGCCTCTCAAAGCGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCGCCATGTTCTTTCTTTCTTTCTTTTTTCTTTTGAGGCAGGGTCTTGC 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CCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGAAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATCTCTGTATGGGGAAGGACACCCCCTTGGCCCCCACCCTTCCCCACCTGATACACGGCTCCATTTCTTTGATTCCTTTCACTGCAAAGCTTCTGGAAGAACAACTGTCTCACCGCTCACCTGCCCATTCTCTTCGGACACTCCTCAGCCCTGCATTACAAACCCCTCACGAATGGCCCGTCTCGGCTTCTTTAATCTCATCTCTTAACAACCACTCCCTCTTCCCCAAAAGCTCTAGCTAGACTGGCTGCCCTTCTCTGCTAATCAACTGGTGGTTCCTTGGCTAGCCAGGAACATGGGGGTAGGCTCCTTCCCGTGCAGACTTTAAGTCATCCTATTTTAATTCACATCACCTCATTTGCATTCTCATAGCACTTACATTGTCTGATACTTTTCCTTGTTTATTTTATCTGTTTCCTCTAATAGCATATACACTTCCTAAGGGCAGGGCAGTGATCTATCTTGTTGTCTTGCTGACCAAAGTATTAGATCACAATGCCTTGCACCTGCTTGGGCTCAATAAATGTGAATAACACACAAGCCTGTTATATGAGAGGTTAAGAGAGCGAGAAAGAGCAAGGGGCAGCCCCTGTGTGGACCAGCATCTTGCACGAAGTTATGCAACTATCATCGCACCTTCTCCCAGACAAGCTTTCAAAGGCTTTGCCATGTTTTCTTTTGTTTTGTTTTTTTGTTTGTTTTTTGAGATGGAGTTTGGCTCTTTTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTAGGCTCACTGCAACCTCTGCCTTCTGGTTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCCCCTGCCACCATGCCTGGCTGATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTGTGGAACTCCTGACCTTGTGATCCACCTGCCTCGGCCTCTCAAAGCGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCGCCATGTTCTTTCTTTCTTTCTTTTTTCTTTTGAGGCAGGGTCTTGC 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Task1_train_23627 | A mutation on Chromosome 17 affecting WRAP53 (WD repeat containing antisense to TP53) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Dyskeratosis congenita, autosomal recessive 3 | GGTGAAACCCTGTCTCTATTAAAAAAAAAAACAAAAACAAAATTAGCCAGGCATGGTGGTGCATGCTCTGTCTCAAAATAATAAAAAAAAAAAAGTATGAATCTATATGGCTTTTGGTGGCTAAATTTGACATTAAAGTCTGAGCTCACCCTTGAACATTGAGACAGAGTCTGTGCTCCATATATACACCCCATCTGCCACAACACTGCTAGAGGCACGCGCCTCAGACTCCTTTTCCCTCCGAGTGACTCAGCCATTCCCCCGTCTCTGTATAGGTCCCTGTCCTTCGAATGGTGGAAGGTGATACCATCTATGATTACTGCTGGTATTCTCTGATGTCCTCAGCCCAGCCAGACACCTCCTAGTAAGTAATGTTTGCCTCCCTGCTCGCCGCCCCACCACCCAGTTTCAAGCAGGGCCTCTTGGGAGAGTCAAGGGCTGCCAGGGGTCTTTGGAGGAGGAAGGCTTGGCATGCTTATCAGAGGGGCTGGTCAGTTGGCTTCCTCCCCTTCCTTTTTTTTTTTTTAGATTGAGTCTCCCTCTGTCACCCAGGCTGGAGGGCGGTGATGCAGTCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTGAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACACCCAGCTAATTGTGTATTTTTCATAGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTGACCTCAGGTGATCCACCTGCCTTGGCCTCCTGAAGTGCTTGGATTACAGGCATGAGCCACCACACCCAGCCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCATTCCTCCCCTTCCTTTGACAGCACCGGGGTTTCAGTGTCCATGTCTCTCTCAGCGTGGCCAGCAGCAGCCGGGAGAACCCGATTCATATCTGGGACGCATTCACTGGAGAGCTCCGGGCTTCCTTTCGCGCCTACAACCACCTGGTAGGGACCGCCATACTCAGCCCCAGCACTCGTACTGGCCCGGCTCTCCTTCCTTGAGGGCAGCTGAGGCTTTGCAAGACCTGTTTTCAGCCCTTTCCTTCCCCCAGGATGAGCTGACGGCAGCCCATTCGCTCTGCTTCTCCCCGGATGGCTCCCAGCTCTTCTGTGGCTTCAACCGGACTGTGCGTGTTTTTTCCACGGCCCGGCCTGGCCGAGACTGCGAGGTCCGAGCCACATTTGGTAAGCATCTGTGCCTCCAAGGGAGGAGGAGAGGGAAGGGCACTGCCACCTGCACAGGGGCCTTTTGTGAGCCGGGGGCCACCTGTGGGGGTTCACGCCGTCCTCTGTACGGCCCCGGGAGCAGGTGCAGCCCAGTCGGCAGAGGAGCAAACAGGCTCAGAGCAGGTAGGAAACCTTCCCAAGGCCAACCAGCTGGTCAAAGGACTGCTTCCTTCCTGAACTCATACCCTGTCAGCTGTGGAGCTTTTGGTCTCTGAAATCTTTCTAGAAAATTGTTGATAAAGCTGATTCCGTTTTCCTGTAGGCCTTCAACTTGCATCTCTCCAAGGAAGAACTGGGATTTGAGAGGGATGAAGTGGGGCTTGGGCATTTAGGTCCTTTGGGAGGATAGATGTGGGGAGCATCAGAGGTCTTTGTCCTGCTTGTGACAGACAGCATGGGGGGGATGTTGAGTCCAAGCATGTTGGTGCTGGGACGGGAGACAGACCTCTGCTTAGCCTGGTTAGTGCCAGGAGCCATTGCCCCCTCCCCCACTTTGTTCCTTCCCTCTCTAGCAAAAAAGCAGGGCCAGAGCGGCATCATCTCCTGCATAGCCTTCAGCCCAGCCCAGCCCCTCTATGCCTGTGGCTCCTACGGCCGCTCCCTGGGTCTGTATGCCTGGGATGATGGCTCCCCTCTCGCCTTGCTGGGAGGGCACCAAGGGGGCATCACCCACCTCTGCTTTCATCCCGATGGCAACCGCTTCTTCTCAGGAGCCCGCAAGGTAGGGGTCACACCCTGAGAGCCCAAAGCAGCTGGGCAGCGGGGCAGGAGCAGGGATGTAGTCTGCAGTGTAGGGGAATGGGTGGGGATGGGGAAAAAATCCCAAGCTGAAGGAGTGCCTGGAGACCCCGAGGGAGGCAGGGACATCCAGGGCTTTGGGGGTGACTCCAGGTCCTGTTCCTTGTCTCCAGGATGCTGAGCTCCTGTGCTGGGATCTCCGGCAGTCTGGTTACCCACTGTGGTCCCTGGGTCGAGAGGTGACCACCAATCAGCGCATCTACTTCGATCTGGACCCGTGAGTGGCTGTGACTCCTTCCTACACAGGGCCCTGATAAGCCTAGGAATGCCAGAGCCCAGCTGTAGGGTCCCAGTCCCTGGGTGTGAGGGGTTCCTGCCCCAGGGGTGAGGCCTCTGCCAGCAAATCTCTCCTCTCTCTCGCAGGACCGGGCAGTTCCTAGTGAGTGGCAGCACGAGCGGGGCTGTCTCTGTGTGGGACACGGACGGGCCTGGCAATGATGGGAAGCCGGAGCCCGTGTTGAGTTTTCTGCCCCAGAAGGACTGCACCAATGGCGTGAGGTCCTCAGTTCAATTCCAGAGATGTTGGGGCTTGGGTTGGGGAGGGAGGTGAATCCCAGAGGGAGCAAGTGTCCTCACTGAAGGCACTGATAGACCCTCCCCATCTCTCCCTCAGCCTGCACCCTAGCCTGCCTCTCCTGGCCACTGCCTCCGGTCAGCGTGTGTTTCCTGAGCCCACAGAGAGTGGGGACGAAGGAGAGGAGCTGGGCCTTCCCTTGCTCTCCACGCGCCACGTCCACCTTGAATGTCGGCTTCAGCTCTGGTGGTGTGGGGGGGCGCCAGACTCCAGCATCCCTGATGATCACCAGGGCGAGAAAGGGCAGGGAGGAACGGAGGGAGGTGTGGGTGAGCTGATATAAAAAGGTTTTTATGATACTAGAGTCTTCGTGTCTGTTTTGGGGGGGCATATGAGTGAGGTGGGGGACCAGGCAGGGGGACTGGCGGGCTCCCTGGTCCAGCAGCAGTGGGTATGGCATATTGGTCCTGAAACCAGGCGTTGAGAGGTGGGACCAGGCAGGAGCCAATGGGGCGGCTGAGCTTGGTGTGAAGTCAAGTGGGTGGGGGTGGGGCTTCATGCCATTGACTGGTTGGTTGCTAGGCAACTTGGTAAACTGAAGGGGGAAACCTGTTTGAAATCTCACTCCCAAGGTGGGGGCGGCAGGGGTCAGGGTGAGCGGGGCTGAGCAGGAGCTGGGTCAGACTGTTGGGTGTGACCGTGTGAGACTGTGCAGACAGTGACAGGGCGCCTGTCGCCCACACTCCACACTGTTTGCCATTCTCCAGCAGCATGGGGACCATTACTCAGCTCTGAGGGGAGCAGGAGCACTCTCCTCCGCTCCCCGGGGCTCCCCAGGAGGCAGACAACCCAGTTGCCAGAGTCAAGGACACACATAAAAGAGTAAAGGTGTTGAAAAATACAGTCGTCACCTTTGATATTGCTGTTCCATGCGGGGCGCGGCGAGGGTCTTATTCATTCAGCGGCTGTCGCTGGGCTTGTTTCTCCATTTGTCTGCTCTGTCTTTGGGGGTGGGGGACGAGTGTGTCATTTGAAGCAGTGACTCCTCCCTCCTCCCCCCAACACCTTCCCAAACACTGAGAATGGGGGGACTTTGAAGAAATACTGCCAGCAGGGGATGTGATTTTGGACCTCACAATCAAAGGGAAGGGACGAAAGGCCTGGGGAGGCTTGAGAGGGAGAGGAATGTCACCCCTGCCCAGAGGTGCTGAAAGCCAGGGCTCTTACACCCGAAAAGGCAACTCCTCCCTTCCCCCAGGATAATTGGAAACAGCCCTTCCTGCGCAGCGCCGGTTTGGGGTTGTAGGTACGCCCCTTCTTCTCCCAGCCCCGCTTCTCCCCCCAGCCATCTAGGAAAGACCCAAGTGTATCCCCTAAACTCTTGTTTTTCACTAACCCCCAGGTAACAACAGCACTTG 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GGTGAAACCCTGTCTCTATTAAAAAAAAAAACAAAAACAAAATTAGCCAGGCATGGTGGTGCATGCTCTGTCTCAAAATAATAAAAAAAAAAAAGTATGAATCTATATGGCTTTTGGTGGCTAAATTTGACATTAAAGTCTGAGCTCACCCTTGAACATTGAGACAGAGTCTGTGCTCCATATATACACCCCATCTGCCACAACACTGCTAGAGGCACGCGCCTCAGACTCCTTTTCCCTCCGAGTGACTCAGCCATTCCCCCGTCTCTGTATAGGTCCCTGTCCTTCGAATGGTGGAAGGTGATACCATCTATGATTACTGCTGGTATTCTCTGATGTCCTCAGCCCAGCCAGACACCTCCTAGTAAGTAATGTTTGCCTCCCTGCTCGCCGCCCCACCACCCAGTTTCAAGCAGGGCCTCTTGGGAGAGTCAAGGGCTGCCAGGGGTCTTTGGAGGAGGAAGGCTTGGCATGCTTATCAGAGGGGCTGGTCAGTTGGCTTCCTCCCCTTCCTTTTTTTTTTTTTAGATTGAGTCTCCCTCTGTCACCCAGGCTGGAGGGCGGTGATGCAGTCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTGAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACACCCAGCTAATTGTGTATTTTTCATAGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTGACCTCAGGTGATCCACCTGCCTTGGCCTCCTGAAGTGCTTGGATTACAGGCATGAGCCACCACACCCAGCCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCATTCCTCCCCTTCCTTTGACAGCACCGGGGTTTCAGTGTCCATGTCTCTCTCAGCGTGGCCAGCAGCAGCCGGGAGAACCCGATTCATATCTGGGACGCATTCACTGGAGAGCTCCGGGCTTCCTTTCGCGCCTACAACCACCTGGTAGGGACCGCCATACTCAGCCCCAGCACTCGTACTGGCCCGGCTCTCCTTCCTTGAGGGCAGCTGAGGCTTTGCAAGACCTGTTTTCAGCCCTTTCCTTCCCCCAGGATGAGCTGACGGCAGCCCATTCGCTCTGCTTCTCCCCGGATGGCTCCCAGCTCTTCTGTGGCTTCAACCGGACTGTGCGTGTTTTTTCCACGGCCCGGCCTGGCCGAGACTGCGAGGTCCGAGCCACATTTGGTAAGCATCTGTGCCTCCAAGGGAGGAGGAGAGGGAAGGGCACTGCCACCTGCACAGGGGCCTTTTGTGAGCCGGGGGCCACCTGTGGGGGTTCACGCCGTCCTCTGTACGGCCCCGGGAGCAGGTGCAGCCCAGTCGGCAGAGGAGCAAACAGGCTCAGAGCAGGTAGGAAACCTTCCCAAGGCCAACCAGCTGGTCAAAGGACTGCTTCCTTCCTGAACTCATACCCTGTCAGCTGTGGAGCTTTTGGTCTCTGAAATCTTTCTAGAAAATTGTTGATAAAGCTGATTCCGTTTTCCTGTAGGCCTTCAACTTGCATCTCTCCAAGGAAGAACTGGGATTTGAGAGGGATGAAGTGGGGCTTGGGCATTTAGGTCCTTTGGGAGGATAGATGTGGGGAGCATCAGAGGTCTTTGTCCTGCTTGTGACAGACAGCATGGGGGGGATGTTGAGTCCAAGCATGTTGGTGCTGGGACGGGAGACAGACCTCTGCTTAGCCTGGTTAGTGCCAGGAGCCATTGCCCCCTCCCCCACTTTGTTCCTTCCCTCTCTAGCAAAAAAGCAGGGCCAGAGCGGCATCATCTCCTGCATAGCCTTCAGCCCAGCCCAGCCCCTCTATGCCTGTGGCTCCTACGGCCGCTCCCTGGGTCTGTATGCCTGGGATGATGGCTCCCCTCTCGCCTTGCTGGGAGGGCACCAAGGGGGCATCACCCACCTCTGCTTTTATCCCGATGGCAACCGCTTCTTCTCAGGAGCCCGCAAGGTAGGGGTCACACCCTGAGAGCCCAAAGCAGCTGGGCAGCGGGGCAGGAGCAGGGATGTAGTCTGCAGTGTAGGGGAATGGGTGGGGATGGGGAAAAAATCCCAAGCTGAAGGAGTGCCTGGAGACCCCGAGGGAGGCAGGGACATCCAGGGCTTTGGGGGTGACTCCAGGTCCTGTTCCTTGTCTCCAGGATGCTGAGCTCCTGTGCTGGGATCTCCGGCAGTCTGGTTACCCACTGTGGTCCCTGGGTCGAGAGGTGACCACCAATCAGCGCATCTACTTCGATCTGGACCCGTGAGTGGCTGTGACTCCTTCCTACACAGGGCCCTGATAAGCCTAGGAATGCCAGAGCCCAGCTGTAGGGTCCCAGTCCCTGGGTGTGAGGGGTTCCTGCCCCAGGGGTGAGGCCTCTGCCAGCAAATCTCTCCTCTCTCTCGCAGGACCGGGCAGTTCCTAGTGAGTGGCAGCACGAGCGGGGCTGTCTCTGTGTGGGACACGGACGGGCCTGGCAATGATGGGAAGCCGGAGCCCGTGTTGAGTTTTCTGCCCCAGAAGGACTGCACCAATGGCGTGAGGTCCTCAGTTCAATTCCAGAGATGTTGGGGCTTGGGTTGGGGAGGGAGGTGAATCCCAGAGGGAGCAAGTGTCCTCACTGAAGGCACTGATAGACCCTCCCCATCTCTCCCTCAGCCTGCACCCTAGCCTGCCTCTCCTGGCCACTGCCTCCGGTCAGCGTGTGTTTCCTGAGCCCACAGAGAGTGGGGACGAAGGAGAGGAGCTGGGCCTTCCCTTGCTCTCCACGCGCCACGTCCACCTTGAATGTCGGCTTCAGCTCTGGTGGTGTGGGGGGGCGCCAGACTCCAGCATCCCTGATGATCACCAGGGCGAGAAAGGGCAGGGAGGAACGGAGGGAGGTGTGGGTGAGCTGATATAAAAAGGTTTTTATGATACTAGAGTCTTCGTGTCTGTTTTGGGGGGGCATATGAGTGAGGTGGGGGACCAGGCAGGGGGACTGGCGGGCTCCCTGGTCCAGCAGCAGTGGGTATGGCATATTGGTCCTGAAACCAGGCGTTGAGAGGTGGGACCAGGCAGGAGCCAATGGGGCGGCTGAGCTTGGTGTGAAGTCAAGTGGGTGGGGGTGGGGCTTCATGCCATTGACTGGTTGGTTGCTAGGCAACTTGGTAAACTGAAGGGGGAAACCTGTTTGAAATCTCACTCCCAAGGTGGGGGCGGCAGGGGTCAGGGTGAGCGGGGCTGAGCAGGAGCTGGGTCAGACTGTTGGGTGTGACCGTGTGAGACTGTGCAGACAGTGACAGGGCGCCTGTCGCCCACACTCCACACTGTTTGCCATTCTCCAGCAGCATGGGGACCATTACTCAGCTCTGAGGGGAGCAGGAGCACTCTCCTCCGCTCCCCGGGGCTCCCCAGGAGGCAGACAACCCAGTTGCCAGAGTCAAGGACACACATAAAAGAGTAAAGGTGTTGAAAAATACAGTCGTCACCTTTGATATTGCTGTTCCATGCGGGGCGCGGCGAGGGTCTTATTCATTCAGCGGCTGTCGCTGGGCTTGTTTCTCCATTTGTCTGCTCTGTCTTTGGGGGTGGGGGACGAGTGTGTCATTTGAAGCAGTGACTCCTCCCTCCTCCCCCCAACACCTTCCCAAACACTGAGAATGGGGGGACTTTGAAGAAATACTGCCAGCAGGGGATGTGATTTTGGACCTCACAATCAAAGGGAAGGGACGAAAGGCCTGGGGAGGCTTGAGAGGGAGAGGAATGTCACCCCTGCCCAGAGGTGCTGAAAGCCAGGGCTCTTACACCCGAAAAGGCAACTCCTCCCTTCCCCCAGGATAATTGGAAACAGCCCTTCCTGCGCAGCGCCGGTTTGGGGTTGTAGGTACGCCCCTTCTTCTCCCAGCCCCGCTTCTCCCCCCAGCCATCTAGGAAAGACCCAAGTGTATCCCCTAAACTCTTGTTTTTCACTAACCCCCAGGTAACAACAGCACTTG 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Task1_train_23628 | Here is a mutation in WRAP53 (WD repeat containing antisense to TP53) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | TTTTTTTTTTTTTAGATTGAGTCTCCCTCTGTCACCCAGGCTGGAGGGCGGTGATGCAGTCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTGAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACACCCAGCTAATTGTGTATTTTTCATAGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTGACCTCAGGTGATCCACCTGCCTTGGCCTCCTGAAGTGCTTGGATTACAGGCATGAGCCACCACACCCAGCCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCATTCCTCCCCTTCCTTTGACAGCACCGGGGTTTCAGTGTCCATGTCTCTCTCAGCGTGGCCAGCAGCAGCCGGGAGAACCCGATTCATATCTGGGACGCATTCACTGGAGAGCTCCGGGCTTCCTTTCGCGCCTACAACCACCTGGTAGGGACCGCCATACTCAGCCCCAGCACTCGTACTGGCCCGGCTCTCCTTCCTTGAGGGCAGCTGAGGCTTTGCAAGACCTGTTTTCAGCCCTTTCCTTCCCCCAGGATGAGCTGACGGCAGCCCATTCGCTCTGCTTCTCCCCGGATGGCTCCCAGCTCTTCTGTGGCTTCAACCGGACTGTGCGTGTTTTTTCCACGGCCCGGCCTGGCCGAGACTGCGAGGTCCGAGCCACATTTGGTAAGCATCTGTGCCTCCAAGGGAGGAGGAGAGGGAAGGGCACTGCCACCTGCACAGGGGCCTTTTGTGAGCCGGGGGCCACCTGTGGGGGTTCACGCCGTCCTCTGTACGGCCCCGGGAGCAGGTGCAGCCCAGTCGGCAGAGGAGCAAACAGGCTCAGAGCAGGTAGGAAACCTTCCCAAGGCCAACCAGCTGGTCAAAGGACTGCTTCCTTCCTGAACTCATACCCTGTCAGCTGTGGAGCTTTTGGTCTCTGAAATCTTTCTAGAAAATTGTTGATAAAGCTGATTCCGTTTTCCTGTAGGCCTTCAACTTGCATCTCTCCAAGGAAGAACTGGGATTTGAGAGGGATGAAGTGGGGCTTGGGCATTTAGGTCCTTTGGGAGGATAGATGTGGGGAGCATCAGAGGTCTTTGTCCTGCTTGTGACAGACAGCATGGGGGGGATGTTGAGTCCAAGCATGTTGGTGCTGGGACGGGAGACAGACCTCTGCTTAGCCTGGTTAGTGCCAGGAGCCATTGCCCCCTCCCCCACTTTGTTCCTTCCCTCTCTAGCAAAAAAGCAGGGCCAGAGCGGCATCATCTCCTGCATAGCCTTCAGCCCAGCCCAGCCCCTCTATGCCTGTGGCTCCTACGGCCGCTCCCTGGGTCTGTATGCCTGGGATGATGGCTCCCCTCTCGCCTTGCTGGGAGGGCACCAAGGGGGCATCACCCACCTCTGCTTTCATCCCGATGGCAACCGCTTCTTCTCAGGAGCCCGCAAGGTAGGGGTCACACCCTGAGAGCCCAAAGCAGCTGGGCAGCGGGGCAGGAGCAGGGATGTAGTCTGCAGTGTAGGGGAATGGGTGGGGATGGGGAAAAAATCCCAAGCTGAAGGAGTGCCTGGAGACCCCGAGGGAGGCAGGGACATCCAGGGCTTTGGGGGTGACTCCAGGTCCTGTTCCTTGTCTCCAGGATGCTGAGCTCCTGTGCTGGGATCTCCGGCAGTCTGGTTACCCACTGTGGTCCCTGGGTCGAGAGGTGACCACCAATCAGCGCATCTACTTCGATCTGGACCCGTGAGTGGCTGTGACTCCTTCCTACACAGGGCCCTGATAAGCCTAGGAATGCCAGAGCCCAGCTGTAGGGTCCCAGTCCCTGGGTGTGAGGGGTTCCTGCCCCAGGGGTGAGGCCTCTGCCAGCAAATCTCTCCTCTCTCTCGCAGGACCGGGCAGTTCCTAGTGAGTGGCAGCACGAGCGGGGCTGTCTCTGTGTGGGACACGGACGGGCCTGGCAATGATGGGAAGCCGGAGCCCGTGTTGAGTTTTCTGCCCCAGAAGGACTGCACCAATGGCGTGAGGTCCTCAGTTCAATTCCAGAGATGTTGGGGCTTGGGTTGGGGAGGGAGGTGAATCCCAGAGGGAGCAAGTGTCCTCACTGAAGGCACTGATAGACCCTCCCCATCTCTCCCTCAGCCTGCACCCTAGCCTGCCTCTCCTGGCCACTGCCTCCGGTCAGCGTGTGTTTCCTGAGCCCACAGAGAGTGGGGACGAAGGAGAGGAGCTGGGCCTTCCCTTGCTCTCCACGCGCCACGTCCACCTTGAATGTCGGCTTCAGCTCTGGTGGTGTGGGGGGGCGCCAGACTCCAGCATCCCTGATGATCACCAGGGCGAGAAAGGGCAGGGAGGAACGGAGGGAGGTGTGGGTGAGCTGATATAAAAAGGTTTTTATGATACTAGAGTCTTCGTGTCTGTTTTGGGGGGGCATATGAGTGAGGTGGGGGACCAGGCAGGGGGACTGGCGGGCTCCCTGGTCCAGCAGCAGTGGGTATGGCATATTGGTCCTGAAACCAGGCGTTGAGAGGTGGGACCAGGCAGGAGCCAATGGGGCGGCTGAGCTTGGTGTGAAGTCAAGTGGGTGGGGGTGGGGCTTCATGCCATTGACTGGTTGGTTGCTAGGCAACTTGGTAAACTGAAGGGGGAAACCTGTTTGAAATCTCACTCCCAAGGTGGGGGCGGCAGGGGTCAGGGTGAGCGGGGCTGAGCAGGAGCTGGGTCAGACTGTTGGGTGTGACCGTGTGAGACTGTGCAGACAGTGACAGGGCGCCTGTCGCCCACACTCCACACTGTTTGCCATTCTCCAGCAGCATGGGGACCATTACTCAGCTCTGAGGGGAGCAGGAGCACTCTCCTCCGCTCCCCGGGGCTCCCCAGGAGGCAGACAACCCAGTTGCCAGAGTCAAGGACACACATAAAAGAGTAAAGGTGTTGAAAAATACAGTCGTCACCTTTGATATTGCTGTTCCATGCGGGGCGCGGCGAGGGTCTTATTCATTCAGCGGCTGTCGCTGGGCTTGTTTCTCCATTTGTCTGCTCTGTCTTTGGGGGTGGGGGACGAGTGTGTCATTTGAAGCAGTGACTCCTCCCTCCTCCCCCCAACACCTTCCCAAACACTGAGAATGGGGGGACTTTGAAGAAATACTGCCAGCAGGGGATGTGATTTTGGACCTCACAATCAAAGGGAAGGGACGAAAGGCCTGGGGAGGCTTGAGAGGGAGAGGAATGTCACCCCTGCCCAGAGGTGCTGAAAGCCAGGGCTCTTACACCCGAAAAGGCAACTCCTCCCTTCCCCCAGGATAATTGGAAACAGCCCTTCCTGCGCAGCGCCGGTTTGGGGTTGTAGGTACGCCCCTTCTTCTCCCAGCCCCGCTTCTCCCCCCAGCCATCTAGGAAAGACCCAAGTGTATCCCCTAAACTCTTGTTTTTCACTAACCCCCAGGTAACAACAGCACTTGGTCCATGGAGCAGTGACAAAAGAGACCCCAAGAGTGGGAGGTGCGCAGCCTGGGTTTGGTTTCTAGCTTTATCCCAGACTTCCTGTGTGACCTTGGGCAAGTCACGGGGCCTCCCTGAGCCTCAGTTTCCTCATCTCTGCAATGGGATCGTTAGCTCTGCCCCTCCCACTTCACACAGGTAGTCGTGACGATCAGCTCCGCCGCACTTTGTAAAGCGCCAAGCCTTCAAGGTTATTATTATTCTCTCCAAACCTGCCGGGAGCAGCGGTGTTGTTTTGGGATGGAGGAGGAGGCTGCGGGAGCGAAAGGGGTGGGTTCCTCGGGGTGGAGAGGGCGAGAGCCTTTCTGGATTCGAGAGAGGAAGATTCCAGCAGCTTGGGCGATCGGAGGGCAGGAGGGGAGCCGGGCAGAACTCAGCCGGAGCCAGAGGCTCGGAGAGACAAAGGGGGCGTGACAGCCCGCGCCGGGGGCTGAGGCGGGGCGGCGGGCGGGAGGTGCGCGAGGTGAGGGAGG 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TTTTTTTTTTTTTAGATTGAGTCTCCCTCTGTCACCCAGGCTGGAGGGCGGTGATGCAGTCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTGAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACACCCAGCTAATTGTGTATTTTTCATAGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTGACCTCAGGTGATCCACCTGCCTTGGCCTCCTGAAGTGCTTGGATTACAGGCATGAGCCACCACACCCAGCCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCATTCCTCCCCTTCCTTTGACAGCACCGGGGTTTCAGTGTCCATGTCTCTCTCAGCGTGGCCAGCAGCAGCCGGGAGAACCCGATTCATATCTGGGACGCATTCACTGGAGAGCTCCGGGCTTCCTTTCGCGCCTACAACCACCTGGTAGGGACCGCCATACTCAGCCCCAGCACTCGTACTGGCCCGGCTCTCCTTCCTTGAGGGCAGCTGAGGCTTTGCAAGACCTGTTTTCAGCCCTTTCCTTCCCCCAGGATGAGCTGACGGCAGCCCATTCGCTCTGCTTCTCCCCGGATGGCTCCCAGCTCTTCTGTGGCTTCAACCGGACTGTGCGTGTTTTTTCCACGGCCCGGCCTGGCCGAGACTGCGAGGTCCGAGCCACATTTGGTAAGCATCTGTGCCTCCAAGGGAGGAGGAGAGGGAAGGGCACTGCCACCTGCACAGGGGCCTTTTGTGAGCCGGGGGCCACCTGTGGGGGTTCACGCCGTCCTCTGTACGGCCCCGGGAGCAGGTGCAGCCCAGTCGGCAGAGGAGCAAACAGGCTCAGAGCAGGTAGGAAACCTTCCCAAGGCCAACCAGCTGGTCAAAGGACTGCTTCCTTCCTGAACTCATACCCTGTCAGCTGTGGAGCTTTTGGTCTCTGAAATCTTTCTAGAAAATTGTTGATAAAGCTGATTCCGTTTTCCTGTAGGCCTTCAACTTGCATCTCTCCAAGGAAGAACTGGGATTTGAGAGGGATGAAGTGGGGCTTGGGCATTTAGGTCCTTTGGGAGGATAGATGTGGGGAGCATCAGAGGTCTTTGTCCTGCTTGTGACAGACAGCATGGGGGGGATGTTGAGTCCAAGCATGTTGGTGCTGGGACGGGAGACAGACCTCTGCTTAGCCTGGTTAGTGCCAGGAGCCATTGCCCCCTCCCCCACTTTGTTCCTTCCCTCTCTAGCAAAAAAGCAGGGCCAGAGCGGCATCATCTCCTGCATAGCCTTCAGCCCAGCCCAGCCCCTCTATGCCTGTGGCTCCTACGGCCGCTCCCTGGGTCTGTATGCCTGGGATGATGGCTCCCCTCTCGCCTTGCTGGGAGGGCACCAAGGGGGCATCACCCACCTCTGCTTTCATCCCGATGGCAACCGCTTCTTCTCAGGAGCCCGCAAGGTAGGGGTCACACCCTGAGAGCCCAAAGCAGCTGGGCAGCGGGGCAGGAGCAGGGATGTAGTCTGCAGTGTAGGGGAATGGGTGGGGATGGGGAAAAAATCCCAAGCTGAAGGAGTGCCTGGAGACCCCGAGGGAGGCAGGGACATCCAGGGCTTTGGGGGTGACTCCAGGTCCTGTTCCTTGTCTCCAGGATGCTGAGCTCCTGTGCTGGGATCTCCGGCAGTCTGGTTACCCACTGTGGTCCCTGGGTCGAGAGGTGACCACCAATCAGCGCATCTACTTCGATCTGGACCCGTGAGTGGCTGTGACTCCTTCCTACACAGGGCCCTGATAAGCCTAGGAATGCCAGAGCCCAGCTGTAGGGTCCCAGTCCCTGGGTGTGAGGGGTTCCTGCCCCAGGGGTGAGGCCTCTGCCAGCAAATCTCTCCTCTCTCTCGCAGGACCGGGCAGTTCCTAGTGAGTGGCAGCACGAGCAGGGCTGTCTCTGTGTGGGACACGGACGGGCCTGGCAATGATGGGAAGCCGGAGCCCGTGTTGAGTTTTCTGCCCCAGAAGGACTGCACCAATGGCGTGAGGTCCTCAGTTCAATTCCAGAGATGTTGGGGCTTGGGTTGGGGAGGGAGGTGAATCCCAGAGGGAGCAAGTGTCCTCACTGAAGGCACTGATAGACCCTCCCCATCTCTCCCTCAGCCTGCACCCTAGCCTGCCTCTCCTGGCCACTGCCTCCGGTCAGCGTGTGTTTCCTGAGCCCACAGAGAGTGGGGACGAAGGAGAGGAGCTGGGCCTTCCCTTGCTCTCCACGCGCCACGTCCACCTTGAATGTCGGCTTCAGCTCTGGTGGTGTGGGGGGGCGCCAGACTCCAGCATCCCTGATGATCACCAGGGCGAGAAAGGGCAGGGAGGAACGGAGGGAGGTGTGGGTGAGCTGATATAAAAAGGTTTTTATGATACTAGAGTCTTCGTGTCTGTTTTGGGGGGGCATATGAGTGAGGTGGGGGACCAGGCAGGGGGACTGGCGGGCTCCCTGGTCCAGCAGCAGTGGGTATGGCATATTGGTCCTGAAACCAGGCGTTGAGAGGTGGGACCAGGCAGGAGCCAATGGGGCGGCTGAGCTTGGTGTGAAGTCAAGTGGGTGGGGGTGGGGCTTCATGCCATTGACTGGTTGGTTGCTAGGCAACTTGGTAAACTGAAGGGGGAAACCTGTTTGAAATCTCACTCCCAAGGTGGGGGCGGCAGGGGTCAGGGTGAGCGGGGCTGAGCAGGAGCTGGGTCAGACTGTTGGGTGTGACCGTGTGAGACTGTGCAGACAGTGACAGGGCGCCTGTCGCCCACACTCCACACTGTTTGCCATTCTCCAGCAGCATGGGGACCATTACTCAGCTCTGAGGGGAGCAGGAGCACTCTCCTCCGCTCCCCGGGGCTCCCCAGGAGGCAGACAACCCAGTTGCCAGAGTCAAGGACACACATAAAAGAGTAAAGGTGTTGAAAAATACAGTCGTCACCTTTGATATTGCTGTTCCATGCGGGGCGCGGCGAGGGTCTTATTCATTCAGCGGCTGTCGCTGGGCTTGTTTCTCCATTTGTCTGCTCTGTCTTTGGGGGTGGGGGACGAGTGTGTCATTTGAAGCAGTGACTCCTCCCTCCTCCCCCCAACACCTTCCCAAACACTGAGAATGGGGGGACTTTGAAGAAATACTGCCAGCAGGGGATGTGATTTTGGACCTCACAATCAAAGGGAAGGGACGAAAGGCCTGGGGAGGCTTGAGAGGGAGAGGAATGTCACCCCTGCCCAGAGGTGCTGAAAGCCAGGGCTCTTACACCCGAAAAGGCAACTCCTCCCTTCCCCCAGGATAATTGGAAACAGCCCTTCCTGCGCAGCGCCGGTTTGGGGTTGTAGGTACGCCCCTTCTTCTCCCAGCCCCGCTTCTCCCCCCAGCCATCTAGGAAAGACCCAAGTGTATCCCCTAAACTCTTGTTTTTCACTAACCCCCAGGTAACAACAGCACTTGGTCCATGGAGCAGTGACAAAAGAGACCCCAAGAGTGGGAGGTGCGCAGCCTGGGTTTGGTTTCTAGCTTTATCCCAGACTTCCTGTGTGACCTTGGGCAAGTCACGGGGCCTCCCTGAGCCTCAGTTTCCTCATCTCTGCAATGGGATCGTTAGCTCTGCCCCTCCCACTTCACACAGGTAGTCGTGACGATCAGCTCCGCCGCACTTTGTAAAGCGCCAAGCCTTCAAGGTTATTATTATTCTCTCCAAACCTGCCGGGAGCAGCGGTGTTGTTTTGGGATGGAGGAGGAGGCTGCGGGAGCGAAAGGGGTGGGTTCCTCGGGGTGGAGAGGGCGAGAGCCTTTCTGGATTCGAGAGAGGAAGATTCCAGCAGCTTGGGCGATCGGAGGGCAGGAGGGGAGCCGGGCAGAACTCAGCCGGAGCCAGAGGCTCGGAGAGACAAAGGGGGCGTGACAGCCCGCGCCGGGGGCTGAGGCGGGGCGGCGGGCGGGAGGTGCGCGAGGTGAGGGAGG 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Task1_train_23629 | Gene DNAH2 (dynein axonemal heavy chain 2), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Spermatogenic failure 45 | TCGTCATCACCCCCCTGACGGACAGGTCTGCCATGTGGGATGAATGAGGTGGCTGGGGTGGGGGGCAGCAGAAGCTGAGAGAGGCTTCCAGGAGTCTGACTCTAGTTCTGTCCTCAATTCTCAGGTGTTACATGACACTGACCACGGCATTGCACCTGCACCGAGGGGGCTCCCCCAAAGGCCCTGCAGGCACAGGCAAGACCGAGACCGTCAAGGACCTGGGCAAGGCCCTGGGCATATATGTCATTGTGGTCAACTGCTCTGAGGGCCTGGACTACAAGTCCATGGGCCGAATGTACTCAGGTCTGGCCCAGGTCAGTATCCTGCCACCCTGTGCCAGAAGCCCCTTAAATACCTTTTCGTCCCAGAAAATAAACTGAAACCCAAATCTGGTTCAGTGCTTTGTAGCTTCATGACATTGCATCACATGTAATTCTTATTTATTTATTTATTTATTTTTTGGAGTGCAGTGGCATGATCTCGGTTCACTGCAACCTTTGCCTGCTGGGTTCGGGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGACACCAAGCCCGGAGAATTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCTGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCACGTATAATTCTTACAACTAGGAAAGTCCCTTCCCCTTCCTGAGCTTCATGTAGCTTATTTGCAAAATCAGAAGATTATAAAGGATTAAAGAAAATAATGTGTGTTAACTGGAGCAGAGTAGACAGTGCACACAAGTTCCCTACCCCAGTCTCTTTCCAACCCACACCTTTTCTAGCATCACCCCAGATTGGCCCCATCTGATGGAAAGTTCTGGCCAGAAGCTACAACAGTGTACTCTGGTGCCCTCCTCCCTGCCCCCTAGTCTGGAGGCCGCCTCGCCTATTGAAACATTTGAAGGAAGGGTGCGTTAATCACGCTTTCTAGCCTCTTGGGGCACCTCTCGCTCCCAGTGACTCTGCCTTGCACCCCGCAGACTGGAGCTTGGGGCTGCTTTGATGAGTTTAACCGCATCAACATCGAGGTGCTGTCAGTGGTGGCCCACCAGATCCTGTGCATCCTGTCTGCCCTGGCTGCCGGCCTCACCCATTTCCATTTTGATGGCTTTGAAATAAATCTGGTGTGGTCCTGTGGGATCTTCATTACCATGAATCCTGGTAGGTGGCAGGGAGTGGATGGGACTCCTGGGGTGGGAAGAACTGGGTGTTCAGGGGAAATAACTGCGCATCCTCCTCTTCCCCCTTCCATGCGAATGTATATAGCTAAGTGAAGTCTGGCTAAAGATAGCAAAGGGGAGAGAAGGATAAACACAACTTTCCGGGAGAAGGGGAAGCAATCTTACTGTTTTCCCCAAAGGGATTAATAACCACTTATGTGTGTATATGTAGCCCTCATCTTTTAAGATACTTAGCTTTCTTCTCCCTTTAGGCTAGCTCCAAGAGTTCTGGTCTCTCTGCCATCTCTTTTGCAGCAGGCTCTAGGGTCTCTCATTACTGTTTCCTAGGAACAACTCTGGGGGAAGGGTCTAGGACAGCACAGGGATAGGAAAGGGTTTAGGAACTGAACAAAGAGGAACAGCTGTGATTTCTATTAGGACTGATGAGAGCTATACACACAGAACCTGGAGAGATGGGAAATTGACAGCTCTGTGATTTGAGTTTGAAACAAGGCCATGCAGAAAGTAAGGAAAGGACCAGAGATAAGAGAGAAGACCAAAGTGGACTGGGAAGGGCTGGGGCTGAGATGAGAAAGGATGTGGTCTTGGAGTTGGAGAGAAAGTTAGGGATGGAGTTAGGGTGGGAGAAAATGAGACTGATTGGAAAGTGGGTTTGGGGAAGCAAATCAAGATGAGGAAATATATGATTCTAAGCAAGTGGCATTGTTTTCCAGGCTATGCTGGCCGCACAGAGCTTCCCGAAAATCTTAAATCCATGTTCCGCCCAATTGCCATGGTGGTGCCTGACTCCACCCTCATTGCAGAAATCATTCTCTTTGGAGAGGGCTTTGGCAACTGCAAGGTACTCCAATAACCCCTTTTCTCCAGTGATTTTAATTTCCTTTCATAATTATTCCCTGGACAGAGGAGCTCCCCAAGGGCCTCACAATCAGCTTATCCTCTAAGGAACTTAGACTATTGTCAGTAGGATGTGTGGGGAGAAAAATTTAGGGGAGGGAGGTGTCTCCTCCGTGATATCACTAACTGACAATGGCGTCATTCACACAATTTCCTCAGGAGAATCCATAGAGTGCCTCCTAGCTGCTTCATGTCCTGGGACCTGGCTTCTTGTCTCTGACTGTCCTGAGATGAAGCAGAGGGATTTGTGGGGAGATGGACTGTTTCCTCCTCTGTTTTGGTTCCCCAGATTCTGGCCAAGAAGGTGTACACACTCTACTCACTGGCTGTGCAGCAGCTGTCCAGACAGGACCACTATGACTTTGGCCTGCGTGCCCTCACCTCCCTTCTGCGCTATGCTGGCAAGAAGCGCCGCCTACAGCCGGATCTGACTGATGAAGAGGTAGAGCAAGGACACAGCCTTTGGACCTGACTTCCACTGTCACTGGACCTATGTCACTTCTCTCAAGTCTTTCAGACCCTTTCTTTCCTCAGATTGGGATTCTCACCTTCCCACCTCGTCCCATCCCCGTGTTGCCCGCTGCTTTGCTAATGGCTAACTGGTGTATCCATTGTTCTTGGCACGTGCCCCGAAGCCCTTTGGAGGTGAAAGGCCTAGGCCCTGCCTCCTCAAGCCTGAGTCTCTGTCTTTTCCCATTCAGGTTCTGCTGCTCTCAATGAGAGATATGAACATCGCCAAGCTCACTTCAGTTGATGCACCCCTGTTCAATGCCATCGTGCAAGATCTGTTTCCCAACATTGAGCTGCCTGTCATTGACTATGGCAAGGTATTTGTTCCTTAATACTCTCCCTGACCGGGTGCTGTGGCTCATGGTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGACTGTTTGAGTCCAGGAGTTTGAGACTAGCCTGGGCAACATGGTGAAACCCTGTATCTACAAAAAGTACAAAAATTAGCCAGGCATGGTGGTGCACACGAGTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGGATTGCTTGAGCCCCAGGAGATTGAGGCTATAATGAGCTGAGATTGTGCCTCTGCACTCCAGCCTGGGTGACAGAGCAAGACCGTGTCTCAAAAAACAAAACAAAAACAAAAAAACCGCACTCTCCCTGACCACATATGTGAATATGCATCTGGGAATAGAAAACTTGGCTTCCAGTCCTTGTTCTGCCATCTACTAGCTATGACTCTGAACAAGTCAATTGACCTCTCTTTGGACTTCCTTATCTATAAAGCAATAGACTATTCAAACATTCTGCTCTCTGACCACAACTCCCTCCTCCGCTGACCTACTCAAGTGTACCTGCTCAAGTGCATCCATGCAGCAACGCTCTGACTTCATTGAAACCTCTAGTCCGTTGCCTTTGCACTTTCTCCGTGCCCATCAGTCCTCCATGCCTCTACTTCTCACCTCATCAGGGAGTTTTGAGGAGGGGCTGCTAGAAGCCATTTGGTATCAGAGAGCAGCAGAATGGAAGAGGGAGTTTTAGAAAGCATAAGAACTTTCTTCTCTGGCAGTGTGGTAGTCTAGATACCCTGAATGATCCTTTCAATTGAAACTACTAAAATGATGGATAAAAATATAATAATAACATCCTTTTTAATGCATTGCTAAGCTGGCAAGAAAGGAAGAATTCCAGGAGTTGAGGAGGGTAGGGAGTAAAAGCAGGAACCCTGGGAGGCAGGTAAGTACCAAAGCTGGCCTTCTCCCTGAAAACTGTTGTTGATCTTAAGGCAGTGAGGATAGGAGATGAAACAACCCAAGTCTGAAGATATAACAGAAGATGCAGTGCTGCATAAACCCCAGTCCCCAAGGGGCAACATCCCCAGTAGATGGAAAAACGAGA 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TCGTCATCACCCCCCTGACGGACAGGTCTGCCATGTGGGATGAATGAGGTGGCTGGGGTGGGGGGCAGCAGAAGCTGAGAGAGGCTTCCAGGAGTCTGACTCTAGTTCTGTCCTCAATTCTCAGGTGTTACATGACACTGACCACGGCATTGCACCTGCACCGAGGGGGCTCCCCCAAAGGCCCTGCAGGCACAGGCAAGACCGAGACCGTCAAGGACCTGGGCAAGGCCCTGGGCATATATGTCATTGTGGTCAACTGCTCTGAGGGCCTGGACTACAAGTCCATGGGCCGAATGTACTCAGGTCTGGCCCAGGTCAGTATCCTGCCACCCTGTGCCAGAAGCCCCTTAAATACCTTTTCGTCCCAGAAAATAAACTGAAACCCAAATCTGGTTCAGTGCTTTGTAGCTTCATGACATTGCATCACATGTAATTCTTATTTATTTATTTATTTATTTTTTGGAGTGCAGTGGCATGATCTCGGTTCACTGCAACCTTTGCCTGCTGGGTTCGGGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGACACCAAGCCCGGAGAATTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCTGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCACGTATAATTCTTACAACTAGGAAAGTCCCTTCCCCTTCCTGAGCTTCATGTAGCTTATTTGCAAAATCAGAAGATTATAAAGGATTAAAGAAAATAATGTGTGTTAACTGGAGCAGAGTAGACAGTGCACACAAGTTCCCTACCCCAGTCTCTTTCCAACCCACACCTTTTCTAGCATCACCCCAGATTGGCCCCATCTGATGGAAAGTTCTGGCCAGAAGCTACAACAGTGTACTCTGGTGCCCTCCTCCCTGCCCCCTAGTCTGGAGGCCGCCTCGCCTATTGAAACATTTGAAGGAAGGGTGCGTTAATCACGCTTTCTAGCCTCTTGGGGCACCTCTCGCTCCCAGTGACTCTGCCTTGCACCCCGCAGACTGGAGCTTGGGGCTGCTTTGATGAGTTTAACCGCATCAACATCGAGGTGCTGTCAGTGGTGGCCCACCAGATCCTGTGCATCCTGTCTGCCCTGGCTGCCGGCCTCACCCATTTCCATTTTGATGGCTTTGAAATAAATCTGGTGTGGTCCTGTGGGATCTTCATTACCATGAATCCTGGTAGGTGGCAGGGAGTGGATGGGACTCCTGGGGTGGGAAGAACTGGGTGTTCAGGGGAAATAACTGCGCATCCTCCTCTTCCCCCTTCCATGCGAATGTATATAGCTAAGTGAAGTCTGGCTAAAGATAGCAAAGGGGAGAGAAGGATAAACACAACTTTCCGGGAGAAGGGGAAGCAATCTTACTGTTTTCCCCAAAGGGATTAATAACCACTTATGTGTGTATATGTAGCCCTCATCTTTTAAGATACTTAGCTTTCTTCTCCCTTTAGGCTAGCTCCAAGAGTTCTGGTCTCTCTGCCATCTCTTTTGCAGCAGGCTCTAGGGTCTCTCATTACTGTTTCCTAGGAACAACTCTGGGGGAAGGGTCTAGGACAGCACAGGGATAGGAAAGGGTTTAGGAACTGAACAAAGAGGAACAGCTGTGATTTCTATTAGGACTGATGAGAGCTATACACACAGAACCTGGAGAGATGGGAAATTGACAGCTCTGTGATTTGAGTTTGAAACAAGGCCATGCAGAAAGTAAGGAAAGGACCAGAGATAAGAGAGAAGACCAAAGTGGACTGGGAAGGGCTGGGGCTGAGATGAGAAAGGATGTGGTCTTGGAGTTGGAGAGAAAGTTAGGGATGGAGTTAGGGTGGGAGAAAATGAGACTGATTGGAAAGTGGGTTTGGGGAAGCAAATCAAGATGAGGAAATATATGATTCTAAGCAAGTGGCATTGTTTTCCAGGCTATGCTGGCCGCACAGAGCTTCCCGAAAATCTTAAATCCATGTTCTGCCCAATTGCCATGGTGGTGCCTGACTCCACCCTCATTGCAGAAATCATTCTCTTTGGAGAGGGCTTTGGCAACTGCAAGGTACTCCAATAACCCCTTTTCTCCAGTGATTTTAATTTCCTTTCATAATTATTCCCTGGACAGAGGAGCTCCCCAAGGGCCTCACAATCAGCTTATCCTCTAAGGAACTTAGACTATTGTCAGTAGGATGTGTGGGGAGAAAAATTTAGGGGAGGGAGGTGTCTCCTCCGTGATATCACTAACTGACAATGGCGTCATTCACACAATTTCCTCAGGAGAATCCATAGAGTGCCTCCTAGCTGCTTCATGTCCTGGGACCTGGCTTCTTGTCTCTGACTGTCCTGAGATGAAGCAGAGGGATTTGTGGGGAGATGGACTGTTTCCTCCTCTGTTTTGGTTCCCCAGATTCTGGCCAAGAAGGTGTACACACTCTACTCACTGGCTGTGCAGCAGCTGTCCAGACAGGACCACTATGACTTTGGCCTGCGTGCCCTCACCTCCCTTCTGCGCTATGCTGGCAAGAAGCGCCGCCTACAGCCGGATCTGACTGATGAAGAGGTAGAGCAAGGACACAGCCTTTGGACCTGACTTCCACTGTCACTGGACCTATGTCACTTCTCTCAAGTCTTTCAGACCCTTTCTTTCCTCAGATTGGGATTCTCACCTTCCCACCTCGTCCCATCCCCGTGTTGCCCGCTGCTTTGCTAATGGCTAACTGGTGTATCCATTGTTCTTGGCACGTGCCCCGAAGCCCTTTGGAGGTGAAAGGCCTAGGCCCTGCCTCCTCAAGCCTGAGTCTCTGTCTTTTCCCATTCAGGTTCTGCTGCTCTCAATGAGAGATATGAACATCGCCAAGCTCACTTCAGTTGATGCACCCCTGTTCAATGCCATCGTGCAAGATCTGTTTCCCAACATTGAGCTGCCTGTCATTGACTATGGCAAGGTATTTGTTCCTTAATACTCTCCCTGACCGGGTGCTGTGGCTCATGGTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGACTGTTTGAGTCCAGGAGTTTGAGACTAGCCTGGGCAACATGGTGAAACCCTGTATCTACAAAAAGTACAAAAATTAGCCAGGCATGGTGGTGCACACGAGTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGGATTGCTTGAGCCCCAGGAGATTGAGGCTATAATGAGCTGAGATTGTGCCTCTGCACTCCAGCCTGGGTGACAGAGCAAGACCGTGTCTCAAAAAACAAAACAAAAACAAAAAAACCGCACTCTCCCTGACCACATATGTGAATATGCATCTGGGAATAGAAAACTTGGCTTCCAGTCCTTGTTCTGCCATCTACTAGCTATGACTCTGAACAAGTCAATTGACCTCTCTTTGGACTTCCTTATCTATAAAGCAATAGACTATTCAAACATTCTGCTCTCTGACCACAACTCCCTCCTCCGCTGACCTACTCAAGTGTACCTGCTCAAGTGCATCCATGCAGCAACGCTCTGACTTCATTGAAACCTCTAGTCCGTTGCCTTTGCACTTTCTCCGTGCCCATCAGTCCTCCATGCCTCTACTTCTCACCTCATCAGGGAGTTTTGAGGAGGGGCTGCTAGAAGCCATTTGGTATCAGAGAGCAGCAGAATGGAAGAGGGAGTTTTAGAAAGCATAAGAACTTTCTTCTCTGGCAGTGTGGTAGTCTAGATACCCTGAATGATCCTTTCAATTGAAACTACTAAAATGATGGATAAAAATATAATAATAACATCCTTTTTAATGCATTGCTAAGCTGGCAAGAAAGGAAGAATTCCAGGAGTTGAGGAGGGTAGGGAGTAAAAGCAGGAACCCTGGGAGGCAGGTAAGTACCAAAGCTGGCCTTCTCCCTGAAAACTGTTGTTGATCTTAAGGCAGTGAGGATAGGAGATGAAACAACCCAAGTCTGAAGATATAACAGAAGATGCAGTGCTGCATAAACCCCAGTCCCCAAGGGGCAACATCCCCAGTAGATGGAAAAACGAGA 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Task1_train_23630 | Given this variant in gene DNAH2 (dynein axonemal heavy chain 2) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Spermatogenic failure 45 | CACCAAGTGTATCACATTATCTGTGGTCCTAGGTATCTTAATTCACAACCCATCCTCAAGCGCTCTCCACCCACGGGCCTGTGTCTGCTTTGCATAGTAAAGCAGACTATCCCTTTGCCAGGGATGGTTTGAAGGATGCCGAGTTTGCTGTCTGTGGTCTCCAAGAGGCCTGAGAGAGGTGGGATGGCCCCATGTGCTCCATGCGCCCAGTCAGAAGAAAGATATCTGTCACGTGCCCTCTGGGCAGGGGGTTGAGAGCATGGGCTCTAAATATGCTCTTTCCATTATTAAGTTGGTACATTTTACATTTTATCTTTTTGGAGATAGGGTCTCACTCTGTTGCCCAAGCTGAGTGCTGTGGTGTGATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAACAATTCTCCTGTCTCCTGAGTAGCTGGGACCGCAGGCGTGCGCCATCACACCCAGCTAATTTTTGATTATTTCTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTGGTCTCAAACTCCTGGACTCAAGTGATCCTCCTGCCTCAGCCTCTCAAAGTGCTGGGACTAGAGGCATGAGCCACCACACCAGGCCACATTTTACATTTTAATTTTTAATTACACAGATAATTGTTGAATCAAGTTCCCTTTCTGAAAATAATAATTTTTCATATAAAGCTAAAGTCCTTTTTGTTCCCCTCTCTCCTCCCAGTCCTGATCTGCTCCTCACTCCACACAAGTAACTACTGTAGTATGTTTGTGTATGTCATTCCAGACCTCTTTTTTAATTTTTTTTTTTTTAAGAGACAGGGTCTTGCTCTGTTACCAAGGCTGGAATGGCATGATCAGGGCTCACTGCAGCCTCAACATTCTGGGCTCAAGTGATCCTCCCACCTCAGTCTCCTGAGTAGCTGAGATTACAGATGCACACCACCATGCCTGGCTTTGTTGTTGTTGTTGTTGTTGAGACAGGTTTCACTATGTTATTCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATACTCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGTCATGAGCCACCATGTCTGGCCTAGGCCTTTTTAAAGGTACACCTTTACCTATAATACCATGGGTATCCATAGAAAATATGTTTTTTGTTTTTTTTTTTGTTTTTGGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGCGCAGCGGTGCCATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTAACAGGCACCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCGTGACCTCAGGTGATCCACGCGGCTCTGCCTCCCTAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGACTGAAAATGTGGTATTTTTTTTTAAAACTATATCATGCTATATACTGCAACATGTCCGTTAAATTAACAATATGTTTTTGAGTTCTGTATTACTACACGTAGATTCATTTCATTGCTTTAACTGCTATATACTATTCCATGATAGAACACTACATTTTATTTTTCCACTGCTCTACTGGTGAACATTTCAGTCATCTCCAGTGTTTTGCAATTACAAACAAGTCACTATGAATGTTCCGGGACCTGTCTCCTGAGCACCCTTGGTTGCTTTTCCAGGGCAGGCCTGTTGTGGCCAGATGATGGCTGCATCTTCATGAGTTAGCAGTGAGGAAGCTCAGGGCAACTGCTGAGCTATAAGAAATTTCAGGTTTGTCTGTCTTTCAGCAGGTTGTAGATAAACATCCACATTTGGAAAACTGTGCGATTTTCCAAATAGAGCCAGGGAAGGAGGAAGACCCAGGCTTTCCACACTCTGGTGTCACGAGTCTGCCAGATGGACCCCTGGTCTCTTACAGGTGGGTTATTTCCTCTTCTCGTTCTCCATCCAGGTGAACCCAGCTGACGGCGAGAACTATGTCACCATGGTAGAGATGACATTTGTGTTCAGCATGATCTGGTCTGTGTGTGCCTCTGTGGATGAGGAGGGCCGGAAGAGGATCGACAGCTACCTCCGAGAGATCGAGGGCTCCTTTCCCAATAAGGTTGGGCGCACACCTGGCTGTCCTATTTGCCCTGTTTTTCCAGACCCCCTGGGCATCCCCCATCTCAGGCTCTGCTTGGGTTTCCCTCTCTCTTTCTTCCACCCGGTGGTCTGGGGCCCGTTCTCTGGGCTGGAGAAGGCTCAAGGAAGGCTTTGGTAACCTGACCTACATGCCCTCCTTAGGACACGGTATATGAGTATTTTGTGGACCCCAAAATACGGAGTTGGACATCATTTGAGGACAAGCTCCCTAAGAGTTGGCGCTACCCTCCAAAGTAAGAGCTGGGCCTGGGTGTGAGGAGGGCATGGGGCAGCGGTAGGTGGGGGATGTGGCAAGAGAGATGGGGCCTAGAAGCAAAAATGAGCAATAGGAAGGAGAAGGTGGGTCCCAGAGAAGGGCTGCCTCTTGAGGACAGGAAGCGGGACCTAGAGGGCTTGGGACAGGGTCTCTGAGGGGAGCACATGATCCCCAGGCCCCACAGGAGGGCAGGGTGCTGATGAGACAGTGGTGACGTAGAGGGAAAGGAAGTGGGAGTTGGAAAGGAGTGGGCGGCTGGTCCTTGAGAGCCGGCCCCTGCTCTTCCCTAGCGCCCCCTTCTATAAGATCATGGTGCCCACCGTCGACACTGTTCGCTACAACTACCTGGTGAGCAGCTTGGTGGCCAACCAGAATCCCATTCTGCTGGTGGGTCCCGTGGGGACTGGGAAGACCTCCATCGCCCAGAGCGTTCTGCAGTCCCTGCCCTCCAGCCAGTGGTCGGTGCTCGTTGTCAACATGTCCGCACAGGTGTGTCGGGGATCCAGGGGCCAGGCTGCCGGCTCCCTTGGGATCCAAGTGCCTGCCTGACCCTCCTCTCTAAGCCCGTATTTCTCTCAGGGGACCCACACATTCATTCGGTACCTTTTCACCAGACCACATCCAATAACGTGCAGAGCATCATTGAGAGCAGGGTTGAGAAGCGAACCAAGGGTGTCTACGTGCCATTCGGGGGCAAAAGCATGATCACCTTTATGGATGACCTAAATATGCCCGCTAAGGACATGTTTGGGTCCCAGCCACCCCTGGAGCTGATCCGCCTCTGGATTGACTATGGCTTCTGGTATGACCGTACGAAGCAGACCATCAAGTACATTCGAGTAAGCCTCGCTAGAGTCTGTTCTTCAGGCCTCTGCTCCTTCTGGGATAGGCTCAGTCCCCACTCCACTGGGGCCCCAGGCTATGGTCCTGTCATCTTGGATTCCTTCCCACACAGGAGCGTCCTTCTCCATGACAGCAGTTCTCGGCTCCCCACTCACGAGCCAGGCATCCTCCCTCAGTCCTGGCTCCTTCGTGGGATTCTGAGCATATTGTTTGCCTGCTTGCTTTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTCTTTCTCTTTCTTTCTTTTTCTTTCTTCTCTTTCTTTCTCTTTCTTTCTTTCTTTTTTTCTTTCTTTCAGACAGCATCTTGCTATGTTGCCAAGGCTGGGGTGCCGGGTTAATTTTATGATTTTTAGTGGACACAAGGTCCCCATATGTTGGCCAGGCTGGTTTTGAACTCCTGGGCTCAAGAGATCCTCCCATCTTGGCCTCCCAAAGTGTTGGCATTACAGGCCTGAGCCATGCTCCCGGCTGCTTCTCTTTAATCAGCGGCCATCGCGGCCTGGCTCCTGGGGTTGTTTGTGTGTATATCTGGCACTCAGGGCCAAAAACTCGCCTAGTGCTATATTCATGTGTGTTTGAGAGAGAACATACACACACACGTGTATAGATAGGTACAATTTTAAAAGAAGAAAAAGAGAAAAAGAAGAAAGAGAAAGTCTAGAAGACACAAATGTTTTTTTACTTACCTGTATTTTCTCATTTGGGTACATGGATTATAAGGATGAAATAC 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CACCAAGTGTATCACATTATCTGTGGTCCTAGGTATCTTAATTCACAACCCATCCTCAAGCGCTCTCCACCCACGGGCCTGTGTCTGCTTTGCATAGTAAAGCAGACTATCCCTTTGCCAGGGATGGTTTGAAGGATGCCGAGTTTGCTGTCTGTGGTCTCCAAGAGGCCTGAGAGAGGTGGGATGGCCCCATGTGCTCCATGCGCCCAGTCAGAAGAAAGATATCTGTCACGTGCCCTCTGGGCAGGGGGTTGAGAGCATGGGCTCTAAATATGCTCTTTCCATTATTAAGTTGGTACATTTTACATTTTATCTTTTTGGAGATAGGGTCTCACTCTGTTGCCCAAGCTGAGTGCTGTGGTGTGATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAACAATTCTCCTGTCTCCTGAGTAGCTGGGACCGCAGGCGTGCGCCATCACACCCAGCTAATTTTTGATTATTTCTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTGGTCTCAAACTCCTGGACTCAAGTGATCCTCCTGCCTCAGCCTCTCAAAGTGCTGGGACTAGAGGCATGAGCCACCACACCAGGCCACATTTTACATTTTAATTTTTAATTACACAGATAATTGTTGAATCAAGTTCCCTTTCTGAAAATAATAATTTTTCATATAAAGCTAAAGTCCTTTTTGTTCCCCTCTCTCCTCCCAGTCCTGATCTGCTCCTCACTCCACACAAGTAACTACTGTAGTATGTTTGTGTATGTCATTCCAGACCTCTTTTTTAATTTTTTTTTTTTTAAGAGACAGGGTCTTGCTCTGTTACCAAGGCTGGAATGGCATGATCAGGGCTCACTGCAGCCTCAACATTCTGGGCTCAAGTGATCCTCCCACCTCAGTCTCCTGAGTAGCTGAGATTACAGATGCACACCACCATGCCTGGCTTTGTTGTTGTTGTTGTTGTTGAGACAGGTTTCACTATGTTATTCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATACTCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGTCATGAGCCACCATGTCTGGCCTAGGCCTTTTTAAAGGTACACCTTTACCTATAATACCATGGGTATCCATAGAAAATATGTTTTTTGTTTTTTTTTTTGTTTTTGGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGCGCAGCGGTGCCATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTAACAGGCACCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCGTGACCTCAGGTGATCCACGCGGCTCTGCCTCCCTAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGACTGAAAATGTGGTATTTTTTTTTAAAACTATATCATGCTATATACTGCAACATGTCCGTTAAATTAACAATATGTTTTTGAGTTCTGTATTACTACACGTAGATTCATTTCATTGCTTTAACTGCTATATACTATTCCATGATAGAACACTACATTTTATTTTTCCACTGCTCTACTGGTGAACATTTCAGTCATCTCCAGTGTTTTGCAATTACAAACAAGTCACTATGAATGTTCCGGGACCTGTCTCCTGAGCACCCTTGGTTGCTTTTCCAGGGCAGGCCTGTTGTGGCCAGATGATGGCTGCATCTTCATGAGTTAGCAGTGAGGAAGCTCAGGGCAACTGCTGAGCTATAAGAAATTTCAGGTTTGTCTGTCTTTCAGCAGGTTGTAGATAAACATCCACATTTGGAAAACTGTGCGATTTTCCAAATAGAGCCAGGGAAGGAGGAAGACCCAGGCTTTCCACACTCTGGTGTCACGAGTCTGCCAGATGGACCCCTGGTCTCTTACAGGTGGGTTATTTCCTCTTCTCGTTCTCCATCCAGGTGAACCCAGCTGACGGCGAGAACTATGTCACCATGGTAGAGATGACATTTGTGTTCAGAATGATCTGGTCTGTGTGTGCCTCTGTGGATGAGGAGGGCCGGAAGAGGATCGACAGCTACCTCCGAGAGATCGAGGGCTCCTTTCCCAATAAGGTTGGGCGCACACCTGGCTGTCCTATTTGCCCTGTTTTTCCAGACCCCCTGGGCATCCCCCATCTCAGGCTCTGCTTGGGTTTCCCTCTCTCTTTCTTCCACCCGGTGGTCTGGGGCCCGTTCTCTGGGCTGGAGAAGGCTCAAGGAAGGCTTTGGTAACCTGACCTACATGCCCTCCTTAGGACACGGTATATGAGTATTTTGTGGACCCCAAAATACGGAGTTGGACATCATTTGAGGACAAGCTCCCTAAGAGTTGGCGCTACCCTCCAAAGTAAGAGCTGGGCCTGGGTGTGAGGAGGGCATGGGGCAGCGGTAGGTGGGGGATGTGGCAAGAGAGATGGGGCCTAGAAGCAAAAATGAGCAATAGGAAGGAGAAGGTGGGTCCCAGAGAAGGGCTGCCTCTTGAGGACAGGAAGCGGGACCTAGAGGGCTTGGGACAGGGTCTCTGAGGGGAGCACATGATCCCCAGGCCCCACAGGAGGGCAGGGTGCTGATGAGACAGTGGTGACGTAGAGGGAAAGGAAGTGGGAGTTGGAAAGGAGTGGGCGGCTGGTCCTTGAGAGCCGGCCCCTGCTCTTCCCTAGCGCCCCCTTCTATAAGATCATGGTGCCCACCGTCGACACTGTTCGCTACAACTACCTGGTGAGCAGCTTGGTGGCCAACCAGAATCCCATTCTGCTGGTGGGTCCCGTGGGGACTGGGAAGACCTCCATCGCCCAGAGCGTTCTGCAGTCCCTGCCCTCCAGCCAGTGGTCGGTGCTCGTTGTCAACATGTCCGCACAGGTGTGTCGGGGATCCAGGGGCCAGGCTGCCGGCTCCCTTGGGATCCAAGTGCCTGCCTGACCCTCCTCTCTAAGCCCGTATTTCTCTCAGGGGACCCACACATTCATTCGGTACCTTTTCACCAGACCACATCCAATAACGTGCAGAGCATCATTGAGAGCAGGGTTGAGAAGCGAACCAAGGGTGTCTACGTGCCATTCGGGGGCAAAAGCATGATCACCTTTATGGATGACCTAAATATGCCCGCTAAGGACATGTTTGGGTCCCAGCCACCCCTGGAGCTGATCCGCCTCTGGATTGACTATGGCTTCTGGTATGACCGTACGAAGCAGACCATCAAGTACATTCGAGTAAGCCTCGCTAGAGTCTGTTCTTCAGGCCTCTGCTCCTTCTGGGATAGGCTCAGTCCCCACTCCACTGGGGCCCCAGGCTATGGTCCTGTCATCTTGGATTCCTTCCCACACAGGAGCGTCCTTCTCCATGACAGCAGTTCTCGGCTCCCCACTCACGAGCCAGGCATCCTCCCTCAGTCCTGGCTCCTTCGTGGGATTCTGAGCATATTGTTTGCCTGCTTGCTTTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTCTTTCTCTTTCTTTCTTTTTCTTTCTTCTCTTTCTTTCTCTTTCTTTCTTTCTTTTTTTCTTTCTTTCAGACAGCATCTTGCTATGTTGCCAAGGCTGGGGTGCCGGGTTAATTTTATGATTTTTAGTGGACACAAGGTCCCCATATGTTGGCCAGGCTGGTTTTGAACTCCTGGGCTCAAGAGATCCTCCCATCTTGGCCTCCCAAAGTGTTGGCATTACAGGCCTGAGCCATGCTCCCGGCTGCTTCTCTTTAATCAGCGGCCATCGCGGCCTGGCTCCTGGGGTTGTTTGTGTGTATATCTGGCACTCAGGGCCAAAAACTCGCCTAGTGCTATATTCATGTGTGTTTGAGAGAGAACATACACACACACGTGTATAGATAGGTACAATTTTAAAAGAAGAAAAAGAGAAAAAGAAGAAAGAGAAAGTCTAGAAGACACAAATGTTTTTTTACTTACCTGTATTTTCTCATTTGGGTACATGGATTATAAGGATGAAATAC 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Task1_train_23631 | The gene DNAH2 (dynein axonemal heavy chain 2) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Spermatogenic failure 45 | CGGAAGGCTGGCTGTACTTCACTTCTGACACCAGATGTGGTGGGGATTTTCCCCACCCAAGCAGTTCTCCAGGGGACACTGGCTGGGTGTCCTATGATATAACTCAAGTCTGAAATGGTCTACCTGGAGTTAGAGTCAGATCGCACAGGTGGAGGGCTCAGTCCCACAATACACCCGCCGCTTCTGATGCTAACCGAAAGCCCAGTGTTTTACCTGTGTTTCTGCCTGGCCGGTTATAAATCAAGGGTTCCCACCACCCCCTTGTCAGGTTCAGTTAATTTGCTAGAGTGGCTCACAGAACTCAGGAAACACTTCACCTACTATTGCTGATTTATTGCAAAGGATATTTTAAAAGATACAAATAAGGCTGGGCACGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCCGATCACTTGAGGTCAGGAGTTCAAGAACAGCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAATACAAAAATTAGCCAGGCATGATGGCGGGTGCCTGTAATGCCAGCTACTGGGGAGGCTGAGGCGGGAGAATCATTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCATCATTGCACTCCAGCCTGGGTGACAGATCGAGACTCCGTCTCAAAAAAAAAAATCAGAAATTGTGGGGCAGGTGCAGTGGCTCATGCCTGTAATCCCAGCACGTTGGGAGGCTGAGGTGGGAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGGCAAAATAACAAGACGCCATCTCTACAAAAAAAGAAAGAGAGAGAGAGAGCAATAAATTGTTGCAATACTGGGCCCACATTCATTCCCATAGGGAAAAAAAACCAGGCTGGAGCTGAGGGACGGCTGCCTGCCCTGGGCCAGCCCACCTGCCTGTTCCACAGTGGGAAACAGAGGAAGATTCTCATGTAGGGGAGGTGGTGTGATGGAGACTGTTTAACAAGCTGATTCTGGTAGTGGTGTGTAGAACAAACCAGAGGAATGAGAGCCTGAAATCAAGAAGAGCCCTTGGGAAGCTGTTGGCAATGACCCAGGCAGGAAGTGATAGAATCCCGACCAGGATGGTGGGGGTAGTGTTGGTGGCAACAGAAAGGAAGGCGGACTCGAGACACACGGGGAAGGTGGACCTTACAGGACACCGCGCTTTCCGGAAGCCCCGCCTCTCCACACCCTGTCCTATTCTTTCCCCCAGGTTGCTGGGAGAAAAACGGCAGGAGCTGCTGGCCCAAGCCAATAAACTGCGGACAGGCTTGTTCAAGATCGACGAAACTAGGGAAAAGGTGCAAGTGATGTCGTTGGAGCTGGAGGATGCCAAGAAGAAGGTGGCTGAGTTCCAGAAGCAGTGTGAGGAGTACCTGGTCATCATTGTGCAGCAGAAGCGGGAGGCAGATGAGCAGCAGAAGGTCCAGGGCCCACGCCCACCCCCCGTGCCCCACTCCCACCAGTGCCGGCTACTGCGTCAGGGAACCCATGTTCCCCCCTTCTTAAATTTTCTTTAGTGACTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATCACCTGAGGTCAGGAGTTCGAGACCAACTTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAGATTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCTGGGGGCGGAGGTTGCAGTGAACTGAGATTGCACCACTGCACTCCAGCCTGGGCGAAAGAGCTAGACTCCATCTCAAAAAAAAAAAAAAATTCTTTAGCTTTCTCTTTCATCTTTTCCACCAACACCGTCACTCCCACCTTTGCCCAAGGCAAAGACAAAAAACCCTTGTCCTTTTTTCATCCCTAGGCCGTAACAGCCAACAGTGAAAAGATTGCAGTTGAGGAAATCAAGTGTCAGGCACTGGCTGACAATGCCCAGAAAGATCTAGAAGAGGCACTGCCCGCCCTGGAAGAGGCCATGCGGGTACCAGGGGCGGGTGCAAGGATGGGAGCCAGGAACGCGAGGCCCCGGGGAAGGGAATGGGCCAGTCTTCTTTGTCCTCAAAGACTCTGGGGAAGTGGGAAGAAGAGGTGGCACCTCAGCTAGGTTCTGTCTCCAGAAGGTCCTGTCTTACCCTCACTTTATCCCCTTTTCCCCCAGGCCCTGGAGTCTCTGAACAAGAAGGATATAGGAGAGATCAAGTCTTATGGACGGCCCCCAGCCCAAGTGGAGATAGTGATGCAGGCAGTTATGATTCTTCGAGGCAACGAGCCCACATGGGCAGAGGCCAAGAGGCAGCTAGGTAAGCTAGAGACAATGAAATCAATGACTTCCACTCACCCAGTGTTTATTGATCGTCGGCTGTGCAGCAGACACTCAGAAAGATAGGGATGGATGAGGCATTGTTCTTACCCTCAAGAGCACAGGGCCTAGTAGAAAGGAGACCGCATGAATATCAGTTAAGGTTCTTTGGTTGTGGGTCGAGTGTGGTGGTTCATGCCTGTAAACCCAAGCTTTGGGAGGGCAAGGTGGGCAGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGACGAAAACCCATCTCTACAAAAAAAAATGCAAAAATTAGCTGGGCATGATGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGTTTAAACCTGGAAGGCTGAGGCTGCAGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGAGACAGAGCCAGACCCTGTCTCCAAAGAAAAAAAAAGATTATTTAGTTGTTACTGGTATTTTCTGACTTTTTACAAAGTTACCTATTTCTTTTCACTAAAAAGAGAAAAAGAAAAAACTACATTTCTGATTGCTTTTATAATTATTAAATATGAAATTTTTAAAAAGATTATTTGGTTGTAAGTAACAGAAAACAGCTCATCTTAATACTGACATTCAGCTTACAATGGTTTGACTTAAGATTTTTCGTCTTTACAATGGTACCCATACAATCATTCTGTTTTTCACTTTCAGTACAGTGTTCAATACATTACATGAGATATTCAACACTTTGTTATAAAATAGACTTTGTGTTAGATGATTTTGCCCAACTGTAGGCTTAATGTAAGTGCTCTGAGCACGTCTAAGTTAGGCTGGGATGAATTATGACATTCAGTAGGTTAGATGCATTAAATGCATTTTTGATTTACCATATTTTCAATGTATGATGGGCTTATCGGGAGCATCTGTATATTAACCAAAATTGTCCTAAAGATAGAAGAATGGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTACAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAATCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCACCTCTGCACTCCAGCCTGGGCAACAGAGCGACACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAGATAGAAGAATGTATTGCTGCATCCAAGGGCAGGAATGCCCTCAGGCCCCCAGAGGGGAACAAGAATCAGAAAATGGGAACCGGGACTCTGTGTTCCATTCTTGTGGTTTACTCTGCTCTGGGTTCCCATAGTAGAATACAGCCTGCCAGTCTCGGTTTGGTGATCCCTGCCCTAGAAGAAAGTGCAAAGCAGAGAGAAAAAAAGTGAAGTGTAGGGTGGCTTGGCTGAGTGTTCAAGGTAAGTGATGAGAGAGGAGCTGGGAAGATTGTCGAGGACCTTGGGGACTGAGAGGTGCCCAGAGACAGAGTCAAGTCAGAGGGAGGAACTAGGGGCCAGGTCAGATAATTTGGCCTTAGGAACTGAGCCCAGGAAAAATGTGGCTATGCGTGAGTAGTGGAGGTGAAACTGCTGGACAAGGAGGATGGCATTAAGCCTC 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CGGAAGGCTGGCTGTACTTCACTTCTGACACCAGATGTGGTGGGGATTTTCCCCACCCAAGCAGTTCTCCAGGGGACACTGGCTGGGTGTCCTATGATATAACTCAAGTCTGAAATGGTCTACCTGGAGTTAGAGTCAGATCGCACAGGTGGAGGGCTCAGTCCCACAATACACCCGCCGCTTCTGATGCTAACCGAAAGCCCAGTGTTTTACCTGTGTTTCTGCCTGGCCGGTTATAAATCAAGGGTTCCCACCACCCCCTTGTCAGGTTCAGTTAATTTGCTAGAGTGGCTCACAGAACTCAGGAAACACTTCACCTACTATTGCTGATTTATTGCAAAGGATATTTTAAAAGATACAAATAAGGCTGGGCACGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCCGATCACTTGAGGTCAGGAGTTCAAGAACAGCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAATACAAAAATTAGCCAGGCATGATGGCGGGTGCCTGTAATGCCAGCTACTGGGGAGGCTGAGGCGGGAGAATCATTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCATCATTGCACTCCAGCCTGGGTGACAGATCGAGACTCCGTCTCAAAAAAAAAAATCAGAAATTGTGGGGCAGGTGCAGTGGCTCATGCCTGTAATCCCAGCACGTTGGGAGGCTGAGGTGGGAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGGCAAAATAACAAGACGCCATCTCTACAAAAAAAGAAAGAGAGAGAGAGAGCAATAAATTGTTGCAATACTGGGCCCACATTCATTCCCATAGGGAAAAAAAACCAGGCTGGAGCTGAGGGACGGCTGCCTGCCCTGGGCCAGCCCACCTGCCTGTTCCACAGTGGGAAACAGAGGAAGATTCTCATGTAGGGGAGGTGGTGTGATGGAGACTGTTTAACAAGCTGATTCTGGTAGTGGTGTGTAGAACAAACCAGAGGAATGAGAGCCTGAAATCAAGAAGAGCCCTTGGGAAGCTGTTGGCAATGACCCAGGCAGGAAGTGATAGAATCCCGACCAGGATGGTGGGGGTAGTGTTGGTGGCAACAGAAAGGAAGGCGGACTCGAGACACACGGGGAAGGTGGACCTTACAGGACACCGCGCTTTCCGGAAGCCCCGCCTCTCCACACCCTGTCCTATTCTTTCCCCCAGGTTGCTGGGAGAAAAACGGCAGGAGCTGCTGGCCCAAGCCAATAAACTGCGGACAGGCTTGTTCAAGATCGACGAAACTAGGGAAAAGGTGCAAGTGATGTCGTTGGAGCTGGAGGATGCCAAGAAGAAGGTGGCTGAGTTCCAGAAGCAGTGTGAGGAGTACCTGGTCATCATTGTGCAGCAGAAGCGGGAGGCAGATGAGCAGCAGAAGGTCCAGGGCCCACGCCCACCCCCCGTGCCCCACTCCCACCAGTGCCGGCTACTGCGTCAGGGAACCCATGTTCCCCCCTTCTTAAATTTTCTTTAGTGACTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATCACCTGAGGTCAGGAGTTCGAGACCAACTTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAGATTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCTGGGGGCGGAGGTTGCAGTGAACTGAGATTGCACCACTGCACTCCAGCCTGGGCGAAAGAGCTAGACTCCATCTCAAAAAAAAAAAAAAATTCTTTAGCTTTCTCTTTCATCTTTTCCACCAACACCGTCACTCCCACCTTTGCCCAAGGCAAAGACAAAAAACCCTTGTCCTTTTTTCATCCCTAGGCCGTAACAGCCAACAGTGAAAAGATTGCAGTTGAGGAAATCAAGTGTCAGGCACTGGCTGACAATGCCCAGAAAGATCTAGAAGAGGCACTGCCCGCCCTGGAAGAGGCCATGTGGGTACCAGGGGCGGGTGCAAGGATGGGAGCCAGGAACGCGAGGCCCCGGGGAAGGGAATGGGCCAGTCTTCTTTGTCCTCAAAGACTCTGGGGAAGTGGGAAGAAGAGGTGGCACCTCAGCTAGGTTCTGTCTCCAGAAGGTCCTGTCTTACCCTCACTTTATCCCCTTTTCCCCCAGGCCCTGGAGTCTCTGAACAAGAAGGATATAGGAGAGATCAAGTCTTATGGACGGCCCCCAGCCCAAGTGGAGATAGTGATGCAGGCAGTTATGATTCTTCGAGGCAACGAGCCCACATGGGCAGAGGCCAAGAGGCAGCTAGGTAAGCTAGAGACAATGAAATCAATGACTTCCACTCACCCAGTGTTTATTGATCGTCGGCTGTGCAGCAGACACTCAGAAAGATAGGGATGGATGAGGCATTGTTCTTACCCTCAAGAGCACAGGGCCTAGTAGAAAGGAGACCGCATGAATATCAGTTAAGGTTCTTTGGTTGTGGGTCGAGTGTGGTGGTTCATGCCTGTAAACCCAAGCTTTGGGAGGGCAAGGTGGGCAGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGACGAAAACCCATCTCTACAAAAAAAAATGCAAAAATTAGCTGGGCATGATGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGTTTAAACCTGGAAGGCTGAGGCTGCAGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGAGACAGAGCCAGACCCTGTCTCCAAAGAAAAAAAAAGATTATTTAGTTGTTACTGGTATTTTCTGACTTTTTACAAAGTTACCTATTTCTTTTCACTAAAAAGAGAAAAAGAAAAAACTACATTTCTGATTGCTTTTATAATTATTAAATATGAAATTTTTAAAAAGATTATTTGGTTGTAAGTAACAGAAAACAGCTCATCTTAATACTGACATTCAGCTTACAATGGTTTGACTTAAGATTTTTCGTCTTTACAATGGTACCCATACAATCATTCTGTTTTTCACTTTCAGTACAGTGTTCAATACATTACATGAGATATTCAACACTTTGTTATAAAATAGACTTTGTGTTAGATGATTTTGCCCAACTGTAGGCTTAATGTAAGTGCTCTGAGCACGTCTAAGTTAGGCTGGGATGAATTATGACATTCAGTAGGTTAGATGCATTAAATGCATTTTTGATTTACCATATTTTCAATGTATGATGGGCTTATCGGGAGCATCTGTATATTAACCAAAATTGTCCTAAAGATAGAAGAATGGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTACAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAATCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCACCTCTGCACTCCAGCCTGGGCAACAGAGCGACACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAGATAGAAGAATGTATTGCTGCATCCAAGGGCAGGAATGCCCTCAGGCCCCCAGAGGGGAACAAGAATCAGAAAATGGGAACCGGGACTCTGTGTTCCATTCTTGTGGTTTACTCTGCTCTGGGTTCCCATAGTAGAATACAGCCTGCCAGTCTCGGTTTGGTGATCCCTGCCCTAGAAGAAAGTGCAAAGCAGAGAGAAAAAAAGTGAAGTGTAGGGTGGCTTGGCTGAGTGTTCAAGGTAAGTGATGAGAGAGGAGCTGGGAAGATTGTCGAGGACCTTGGGGACTGAGAGGTGCCCAGAGACAGAGTCAAGTCAGAGGGAGGAACTAGGGGCCAGGTCAGATAATTTGGCCTTAGGAACTGAGCCCAGGAAAAATGTGGCTATGCGTGAGTAGTGGAGGTGAAACTGCTGGACAAGGAGGATGGCATTAAGCCTC 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Task1_train_23632 | Given this variant in gene DNAH2 (dynein axonemal heavy chain 2) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Spermatogenic failure 45 | AGTAGCTGGGACTACAGGCCTGCGCCACCACGCCCGGCTAATTTTTGTATTTTTTGTAGAGGCGGGGTCCCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCGGCCTGAGAGGTCCTTTTAAAGTGGATGCCATTGTGACGGGCTCCCCATGGCTGGCGCCACCTCCCACCACACAGCCCCCACTCCACTCCAGCCACGCAGGCCTCATTGCCCTCCCCAAACCCCCTGGCACGTCTCGCCTCAGGGCCTTTGCGTGGCCATGCCTTCTGCTGGAAGCCTACTCCCCGGCGTGTGCACCTGGCCATCTCTCACCTCCTTCAGACCTCACCTCAATGCGACCTTGATCTTCTTATTTAATACTTCAAACTACCCCTCAACACTCTCAGTCTCCCTTACCCTCCTCAGAGTATCCTATTTTTCCTTGGCACTGCCGTCTTTGCTATACTAGATAATTTACTTATTTGTTATGTTTTTGGTTCATAATCTGCCCATGAATTCACAATCCCATGTTAGAAAATAAAATCCCCAAGGGCAGATATATTTGTCCATTTTGCTCAGTAATGCATCCCAATGATTAAAATGCATAGTTGGCGAACAATAAATATTTGTTAAGAAGAATGAATAAGCAAGTGAGTGAATGAATGAGTAAATAGTTTGTGCTTCTGTGAAGGTGAGGCTACCAACCAGTCATTAGGTTGGAGACATTATTACCAGGCAACCAGCAGAGGGCGCCAGCTTCCTAAATTTGAACTGTGAGGGCTAAGGGCAGGGTCTGAGTCCTAGCCCCCACGTTTATTCCCCAGGATCCCTGTATTCATCTCTTCACTCTCATACAAAAGCCATTTTGGGCTGGGCGCGGTGGCTGACACCTGTAATCCCAGTACTTTGGGAGGCCGAGGAGGATGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTGTCTACTAAAAATACAATAATTAGCCAGGTGTGGTGGCGAGCACCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGGGTCAGAGGTTGCAGTGAGCCGAGATTGTGCCATTGCACTCTGGCCTAGGTGACAAGAATAAGACTCCATCTCAAAAAAAAAAAAAAAATTCCATTTGGTTTTCCCACCGAGAGAGAGAAAAATACAGAGAGAGAGAGAGAGAGAGAGAGGAGAAAAAGATCACTCTTCTTTTGAAGTATTCCCAAGTCAATCCCTTTCTTCCTCCCCTTCTCCCACCAGGTCTTGGATCGGGAGGGCCAAATGGACAATCCATGTAGTAGCTGGCTTGCAGATGCCTACTGGGATAACATCACAGAGCTAGACAAACTGACCAACTTCCACGGACTCATGAACTCCTTTGAGCAGTACCCTCGTGACTGGCACCTGTGGTATACCAATGCTGCCCCGGAGAAGGCGATGCTGCCAGGTACCAGGCGTCTGTGTCCCACTCTCACTTTTCTCCTTCCCTCCATTCAGCCACATGCCGGCCCTTCCCATTGTCCTCCATCCCCTCTCCCAGCTGGTGCCTGCCTCCTGGCCCGGAGCACATTCCCGGCAGGTGCCCCTTTGTCTGGATTCCCCGCTCTTCCAGACTCACTCCCTCTCCCTGCAATGACTCACCTCATCCCCAGGTGAGTGGGAAAATGCCTGCAATGAAATGCAACGGATGCTGATCGTTCGCTCCCTGCGCCAGGACCGCGTGGCCTTCTGCGTGACCTCCTTCATCATCACCAACCTTGGCTCCCGCTTCATCGAGCCGCCTGTGCTGAATATGAAGTCGGTCGGTGGCTCGGCTTCCTTGTCCCCACGGCCCATGGGTCTTTCCTGCCTCCCTCGCTCTGTTTCAGTCTCCTTCATCTCTCTCTCCCACTTTGGTCATGTGGCCTTCTGCCTGATGCTATACCTGTGCTTCTGGCAGGTGCTGGAGGATTCAACCCCACGATCCCCACTCGTGTTCATCCTGTCCCCTGGTGTGGACCCCACCAGTGCCCTGCTGCAGCTGGCAGAGCACATGGGCATGGCCCAGCGCTTCCACGCCCTGTCCCTGGGCCAGGGCCAGGCCCCCATCGCTGCTCGGCTCCTCCGAGAGGGTGTGACTCAGGGTTGGTGTCCATCCTTTCTTCCACCCCCATCTTCAGCCCAGTCCTTGTCCCTAGAACCTCCAACCTCAATTACACTACTGTCCCTGTACCTCCCACTTCTACAGAGGGCCCCAGAAGTGGCAGATCTTAGTGTTAGGCCCCCCCAGCACCCCCACCCCAACACCAGGTGGAAAGCATGAGGACAGGCAGGGCTTAGGAAATGATTCCCACTGACCCTGGCATCTCCTTGCAGGACACTGGGTGTTCCTGGCAAACTGCCACCTGTCACTGTCTTGGATGCCTAATCTGGACAAGCTGGTGGAGCAGCTGCAGGTGGAGGATCCTCATCCATCCTTCCGCCTCTGGCTCAGCTCCATCCCCCACCCAGACTTCCCTATCTCAATCTTGCAGGTCAGCATCAAGATGACCACAGAGCCACCAAAGGTATGTGGCCATAGAGAACCAGCATCATCAGGGCCATCTGGTCCACCTTACCTCCTGCTAGCACCAGAGAGAGGGCTTAACCAACAACAACATGATTTGATTGTCCTCAAAAAATTCCACCTCATTCCTCTCCTGTTTGTGCCAAACTCCTAGAACACAATAATAAGAGCTAACATTTCTTGAGTGATTATCATGTGCCACGCACTGTTCTAAGTTCTTTACATTTATTAACTCGTTTAATATGGGTGTGTGCACACACACACCCTATAAGGTGAATACTGTTACCCCCATTTTAAAGATAGGAAATGAGATACAGAAAGAGTAAATAAGTATTCCAGAGCCAGAGTTTGGGTAGTTGGGTCCCCAAATTCATTCTTTTATACCTCAGAACCTTCCTGCCTCCCATCATTTCCTTACATCCTCTTCCGAATGTCACACTTCCTGCCTCTTTGCCTTTCCTTTCCTCCGACTCTACTGAAATTTTTATCTCCAATATCACAAGCTCATCACCAAATGCAATCATCACCACCCTCTAAAATCTGCCGTGTCACTGCGCTTCACCCACTCACCCCTGCTTAAACTATTTTAGTAGCTTTTCATTGCGCTTAGTTGAGATCAAAATCCTTTTTGCTCACCCTGTGAAAAGCACATGGACCAGTATGTATCATCCTCAACAGATAAGAGCTGTTTGAATCACGCATGGGTGCCTTTCATCATTATTAATCCTCCTTGGCCACTTGGGGCAGCTGTCACAGTCGACTGTCCCTTTCCCTGGCTCCCTGACACATCACTCCTGCTTTCCCCGCTGTCTTTTGACATATCATTTATTACTTCGGTGTTTCTTTTTCCTCTGCCTGTGACCAGATTGCAATACTTACTCCTTAACCTAAGGACTAAGAGGGGAGGGCCAAAGAGGGGAGGGACCCTTGGTCCTGGCCCAGCGTTTCTCATTCTACTTTCTCCTTTCACAAGTTGTTGGAGAAATTGTCCTTTTCATGATTTCAACTCTAATCCCATCTCTGGCATCAGCCCCAAAGTCAGTGCCAGCTCTGAATTGCCATCAGATTACAAAGCACTTCTTGGCACACCAGCACCATAATAGCAACTCGTTTCACACTTTTTTGTCCCAACCCCCAAGACTCAGAATGTGATTACGTTTAGAGGCAGGATATTTTTTTAGAAAGCGTCTTGGCCAGGCATGGTGGCTCAGGCCGGGTGTGATGGCTCACACCTGTAATCCTAGCATTTGGGGAGGCTGAAGCAGGTGGATCACCTGAGCTCAGGAAGGTTAGATATGGAGTTCAGGTATGATAACCCTGGCTAGAGGTGGAGGTTGCAGGGAGCTGAGATTGCGCTGTTACACTGCAGCCTGGGCTCCGCCTCCCAGGTTCAAGCAGTTCTCCTACCTCAGCCACCTGAGTAGCTGGGACTACAGGTGTGCGCCACTACGCCCTACTAATTTTTG 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AGTAGCTGGGACTACAGGCCTGCGCCACCACGCCCGGCTAATTTTTGTATTTTTTGTAGAGGCGGGGTCCCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCGGCCTGAGAGGTCCTTTTAAAGTGGATGCCATTGTGACGGGCTCCCCATGGCTGGCGCCACCTCCCACCACACAGCCCCCACTCCACTCCAGCCACGCAGGCCTCATTGCCCTCCCCAAACCCCCTGGCACGTCTCGCCTCAGGGCCTTTGCGTGGCCATGCCTTCTGCTGGAAGCCTACTCCCCGGCGTGTGCACCTGGCCATCTCTCACCTCCTTCAGACCTCACCTCAATGCGACCTTGATCTTCTTATTTAATACTTCAAACTACCCCTCAACACTCTCAGTCTCCCTTACCCTCCTCAGAGTATCCTATTTTTCCTTGGCACTGCCGTCTTTGCTATACTAGATAATTTACTTATTTGTTATGTTTTTGGTTCATAATCTGCCCATGAATTCACAATCCCATGTTAGAAAATAAAATCCCCAAGGGCAGATATATTTGTCCATTTTGCTCAGTAATGCATCCCAATGATTAAAATGCATAGTTGGCGAACAATAAATATTTGTTAAGAAGAATGAATAAGCAAGTGAGTGAATGAATGAGTAAATAGTTTGTGCTTCTGTGAAGGTGAGGCTACCAACCAGTCATTAGGTTGGAGACATTATTACCAGGCAACCAGCAGAGGGCGCCAGCTTCCTAAATTTGAACTGTGAGGGCTAAGGGCAGGGTCTGAGTCCTAGCCCCCACGTTTATTCCCCAGGATCCCTGTATTCATCTCTTCACTCTCATACAAAAGCCATTTTGGGCTGGGCGCGGTGGCTGACACCTGTAATCCCAGTACTTTGGGAGGCCGAGGAGGATGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTGTCTACTAAAAATACAATAATTAGCCAGGTGTGGTGGCGAGCACCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGGGTCAGAGGTTGCAGTGAGCCGAGATTGTGCCATTGCACTCTGGCCTAGGTGACAAGAATAAGACTCCATCTCAAAAAAAAAAAAAAAATTCCATTTGGTTTTCCCACCGAGAGAGAGAAAAATACAGAGAGAGAGAGAGAGAGAGAGAGGAGAAAAAGATCACTCTTCTTTTGAAGTATTCCCAAGTCAATCCCTTTCTTCCTCCCCTTCTCCCACCAGGTCTTGGATCGGGAGGGCCAAATGGACAATCCATGTAGTAGCTGGCTTGCAGATGCCTACTGGGATAACATCACAGAGCTAGACAAACTGACCAACTTCCACGGACTCATGAACTCCTTTGAGCAGTACCCTCGTGACTGGCACCTGTGGTATACCAATGCTGCCCCGGAGAAGGCGATGCTGCCAGGTACCAGGCGTCTGTGTCCCACTCTCACTTTTCTCCTTCCCTCCATTCAGCCACATGCCGGCCCTTCCCATTGTCCTCCATCCCCTCTCCCAGCTGGTGCCTGCCTCCTGGCCCGGAGCACATTCCCGGCAGGTGCCCCTTTGTCTGGATTCCCCGCTCTTCCAGACTCACTCCCTCTCCCTGCAATGACTCACCTCATCCCCAGGTGAGTGGGAAAATGCCTGCAATGAAATGCAACGGATGCTGATCGTTCGCTCCCTGCGCCAGGACCGCGTGGCCTTCTGCGTGACCTCCTTCATCATCACCAACCTTGGCTCCCGCTTCATCGAGCCGCCTGTGCTGAATATGAAGTCGGTCGGTGGCTCGGCTTCCTTGTCCCCACGGCCCATGGGTCTTTCCTGCCTCCCTCGCTCTGTTTCAGTCTCCTTCATCTCTCTCTCCCACTTTGGTCATGTGGCCTTCTGCCTGATGCTATACCTGTGCTTCTGGCAGGTGCTGGAGGATTCAACCCCACGACCCCCACTCGTGTTCATCCTGTCCCCTGGTGTGGACCCCACCAGTGCCCTGCTGCAGCTGGCAGAGCACATGGGCATGGCCCAGCGCTTCCACGCCCTGTCCCTGGGCCAGGGCCAGGCCCCCATCGCTGCTCGGCTCCTCCGAGAGGGTGTGACTCAGGGTTGGTGTCCATCCTTTCTTCCACCCCCATCTTCAGCCCAGTCCTTGTCCCTAGAACCTCCAACCTCAATTACACTACTGTCCCTGTACCTCCCACTTCTACAGAGGGCCCCAGAAGTGGCAGATCTTAGTGTTAGGCCCCCCCAGCACCCCCACCCCAACACCAGGTGGAAAGCATGAGGACAGGCAGGGCTTAGGAAATGATTCCCACTGACCCTGGCATCTCCTTGCAGGACACTGGGTGTTCCTGGCAAACTGCCACCTGTCACTGTCTTGGATGCCTAATCTGGACAAGCTGGTGGAGCAGCTGCAGGTGGAGGATCCTCATCCATCCTTCCGCCTCTGGCTCAGCTCCATCCCCCACCCAGACTTCCCTATCTCAATCTTGCAGGTCAGCATCAAGATGACCACAGAGCCACCAAAGGTATGTGGCCATAGAGAACCAGCATCATCAGGGCCATCTGGTCCACCTTACCTCCTGCTAGCACCAGAGAGAGGGCTTAACCAACAACAACATGATTTGATTGTCCTCAAAAAATTCCACCTCATTCCTCTCCTGTTTGTGCCAAACTCCTAGAACACAATAATAAGAGCTAACATTTCTTGAGTGATTATCATGTGCCACGCACTGTTCTAAGTTCTTTACATTTATTAACTCGTTTAATATGGGTGTGTGCACACACACACCCTATAAGGTGAATACTGTTACCCCCATTTTAAAGATAGGAAATGAGATACAGAAAGAGTAAATAAGTATTCCAGAGCCAGAGTTTGGGTAGTTGGGTCCCCAAATTCATTCTTTTATACCTCAGAACCTTCCTGCCTCCCATCATTTCCTTACATCCTCTTCCGAATGTCACACTTCCTGCCTCTTTGCCTTTCCTTTCCTCCGACTCTACTGAAATTTTTATCTCCAATATCACAAGCTCATCACCAAATGCAATCATCACCACCCTCTAAAATCTGCCGTGTCACTGCGCTTCACCCACTCACCCCTGCTTAAACTATTTTAGTAGCTTTTCATTGCGCTTAGTTGAGATCAAAATCCTTTTTGCTCACCCTGTGAAAAGCACATGGACCAGTATGTATCATCCTCAACAGATAAGAGCTGTTTGAATCACGCATGGGTGCCTTTCATCATTATTAATCCTCCTTGGCCACTTGGGGCAGCTGTCACAGTCGACTGTCCCTTTCCCTGGCTCCCTGACACATCACTCCTGCTTTCCCCGCTGTCTTTTGACATATCATTTATTACTTCGGTGTTTCTTTTTCCTCTGCCTGTGACCAGATTGCAATACTTACTCCTTAACCTAAGGACTAAGAGGGGAGGGCCAAAGAGGGGAGGGACCCTTGGTCCTGGCCCAGCGTTTCTCATTCTACTTTCTCCTTTCACAAGTTGTTGGAGAAATTGTCCTTTTCATGATTTCAACTCTAATCCCATCTCTGGCATCAGCCCCAAAGTCAGTGCCAGCTCTGAATTGCCATCAGATTACAAAGCACTTCTTGGCACACCAGCACCATAATAGCAACTCGTTTCACACTTTTTTGTCCCAACCCCCAAGACTCAGAATGTGATTACGTTTAGAGGCAGGATATTTTTTTAGAAAGCGTCTTGGCCAGGCATGGTGGCTCAGGCCGGGTGTGATGGCTCACACCTGTAATCCTAGCATTTGGGGAGGCTGAAGCAGGTGGATCACCTGAGCTCAGGAAGGTTAGATATGGAGTTCAGGTATGATAACCCTGGCTAGAGGTGGAGGTTGCAGGGAGCTGAGATTGCGCTGTTACACTGCAGCCTGGGCTCCGCCTCCCAGGTTCAAGCAGTTCTCCTACCTCAGCCACCTGAGTAGCTGGGACTACAGGTGTGCGCCACTACGCCCTACTAATTTTTG 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Task1_train_23633 | This alteration in CHD3 (chromodomain helicase DNA binding protein 3) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Snijders Blok-Campeau syndrome | CCTGCCCCACAGTGTGGATAAAAAGGGGAATTACCACTATCTAGTAAAATGGAGGGACTTACCATATGACCAGTCCACGTGGGAGGAAGATGAAATGAATATCCCTGAATACGAAGAACATAAGCAAAGCTACTGGAGACACCGGTGAGGGAATGAGCTTGTGGATTCAAGGGATTCTGACGATGAGGGCATGAAAGCCAAAACTCCAGCATAAAATGAGGGTACAGTAGGGCCTGATTCAACCTGGAGTTCAGGGCAATGGCCACCTGAGCTGGGTTGTTTGAGATAGGCTTGCTAAAGAGGTAGTGTAAGGAACAGAAACAAGATCTGGCTGAGTAGTGGAGAAGAGGATGTTCAAGAGTGGGGAGGGCTGGCTCTTGAGGTGAAATCCAAAGGGCAAGGGTAAAGAGCCTGGGAAAAAGGAAATATGGGAAAATCTAGGTCATGGACAGTGGGAAGTAGGTCTGGAATGGGTTCAGAAAAGAAAGCGTAGGACTCCCAAGGATGAGGCCTCATTCAGACCCACTCTTTTTCCAGAGAACTAATTATGGGGGAAGACCCTGCCCAGCCCCGCAAGTATAAGAAGAAGAAGAAGGAGCTACAGGGTGATGGGCCTCCCAGTTCTCCCACTAATGATGTGAGTCCTCTCAGTTGTCATTTCTTGTTTCTGGAGTGATGGTGATCGAAGATTTTCCAAGGGCTACTGATGGAACTTCCCAGAGATTCAGTAACCTCTGTGAACAGTAGCTCTTCCTTCAGCATCCAGTCTTGCCCCAAGAGTGGCTAAGAATTTTGGCCTGAAAGGGCAGGAGCCACTAGAGATAGCCCACTGGTGGCTCTGTCACCAGCTGGCCCTTCCCCATGGTGCTGCTGGATATTGTCTTAAGGAATGAGGGGGAGGGGCTGAAGACTAGATGTGAGAACTTTTGTAAACTCAGGCCATAGTAGAGGGAATTGTAATCCAACTTGGTATCCATGCCAGGGAGGAAGAGACTAAGACTGGAGGAGCCGCCGACTATTTCCTTGAGCTTTCTGACTTCTTGTCTCTATAGCCTACCGTGAAATATGAGACTCAGCCACGGTTTATCACAGCCACTGGAGGCACCCTGCACATGTATCAGTTGGAAGGGCTGAACTGGCTACGCTTCTCCTGGGCCCAGGGCACTGACACCATTCTAGCTGATGAGATGGGGCTAGGCAAGACCATACAAACCATCGTCTTCCTCTACTCACTCTACAAGGAGGTGCTGGATTCTAGGACCTTGAAGGGGACCGCCTGGACTGGGGAAGTGGGGAGGGGGAAGATAAAGGGGTGTAGCTGGCAGAGGACTAGGGTATACGGCCTCTAGCCTAGACTTATGCTGCCCCCATTCTTGACTCCCAGGGCCACACAAAAGGTCCCTTCCTGGTGAGTGCCCCACTCTCTACCATCATTAACTGGGAGCGGGAGTTCCAGATGTGGGCACCCAAATTCTATGTGGTGACATACACGGGTGACAAGGACAGCCGGGCCATCATTCGTGAGAATGAATTCTCCTTTGAGGACAATGCCATCAAAGGGGGCAAGAAAGCTTTTAAGATGAAGGTAAGACCCTCTACCTCATATCCTCTGAGACCCTCAAAGCTGTCACTTCTTTTTCTCAGCCAGGAATTCAGTTTCTCTATTCCCCTCCTCACCTTTCTCCTCTTCCTCCACCTGTCCTCCTGTCTCTGCACTACCATCCTAGAGATATGGCAGGTACTCCCAGGGGCATACATGGATCTGTCGGTACTGGAAATGTGGGCAGAGGTTTAGGAGCCATGGTCTGTAATCCCTGCTTGGAGAACAGAGTAATGGCTCCTGTTGGGAGCCACAGTCAGGACAAGGTGTCTGGTTCTGGAGGTGTAGGTGCATGGTTGTCAGGTGGCAGCTGAATGGGCAATAATTATGTTGGCAGAGGGAGGCACAGGTGAAGTTCCATGTTCTCCTGACATCGTATGAGCTGATCACCATTGATCAGGCAGCACTTGGTTCCATCCGCTGGGCCTGTCTTGTGGTAGATGAGGCCCATCGACTCAAGAACAACCAGTCCAAGGTGAGTGAGGTTTCCAGACCTAAAAAACTTGAAGTTGTGGACTTCCCACTTGCCTTGGTCCTAAAAAACAACAAAAATTCTGGGGATTTTCTGTAGTCTGGGAGGACGTCCAGGTTGGAAGAGGGAGAGGGCCAGAGATTTGGGGCCTCTGATCCTGAGTGAAATGGGAGCTGGGGCAGGGAAAGGCTGATGCTGTGGGTCGGTCACTTGTCACTAATAAGCCCATTTTCCTGCCTTGCCTTGCCCCATCTTTTAGTTTTTCAGGGTTCTCAATGGTTACAAGATAGATCATAAGTTGCTGCTGACAGGAACCCCATTGCAGAATAATCTGGAGGAGCTCTTCCATCTCCTGAACTTCCTCACCCCAGAGAGATTTAAGTAAGTGGTTCCCTAAGGGTAGTTGGCAGAGATGAGAGGTGGAGCAGATAAAATGAGCTGGTAGAGGATTAATCTGAGGTGGTAAGTCTGAGATCAGGGGCAAGGAACTTGCCGACCTGTTAATTTTCTTCTCTTCTGGCTCTTAGCAACTTGGAGGGCTTCCTGGAGGAGTTTGCTGACATATCCAAAGAGGACCAGATCAAGAAACTGCATGATTTGCTGGGGCCACACATGCTGCGGAGACTCAAGGCAGATGTCTTTAAGAACATGCCAGCCAAGACAGAGCTCATCGTTCGGGTGGAGCTAAGCCCCATGCAGAAGTAAGATGCAAGACGAGCTGCCTGGAGTAGGGCTTGGGGATTGATGGGAGCGTTCCAAGTGCAATATCATAATTGCTTCCTTTATTTATGTTTCTTTTACACCCCTTTCCTGGCCTTTAGGAAATACTACAAATACATCCTGACTCGAAATTTTGAGGCCTTGAATTCACGAGGTGGTGGGAACCAGGTGTCGCTGCTTAATATCATGATGGATCTTAAGAAGTGCTGCAACCATCCATACCTTTTTCCCGTGGCTGCTATGGTAGATACACAGAGCAGGGAGCTGATCGAACGCCCATTCTCAGAAAACATGGGTGGGGAGTAGTGGGGAGGTGGGTATTGAGCCACAGGGGTGGAGCTGGGCTGGAAGGCCACGGACTGGGTGTCTGAGAACAGGAGGAATTGGGAACATGTGGAAGCTGGATCCGGGCATCTGGCCTTCTAGGTGTGGCAAGAATATGGGGGCATGTTTCCAACTGACCCCCTCCTCCTCCTCTCTCCTCCCTTTTCAGGAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTCATCTTCTCGCAGGTGACCTGTGCCCTTAGCTGTCTTTACATCTGCTTCCTCTTCCCTCTCCTCATCCTCCAGACTTTAATTTCTTACGGTCTTCCTGTGGCTGCTCTGGTGTGACAAATGAGGAGATTCCTCCTGTAAGAGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGTCAGGATGGTCTCCATCACCTGACCTCAGGTGATCTGCCCGCCTCGGTCTCCCAAAGTGCTGGGATTACTGTATAGCAAGTTCATTCTTGGCCTCTGATGCCTGTTCTTAAGGTTGCTGGAAGTTGAGGTCCAGCTCTAGTTCCTTTTCAGCTGCATGAGGGAAGGGGGAGGGTGAGCCATCTGCCTCCTTAGGGACTGGTATTATTTCTTCATCTTATTGGCAGGTGAGGGTGAAGGGCACAGACCCTTTGGAAATGTGATGAAAGCTCTGGGTCTACTCACCAGAAAACTGCACATACAATGACACAATTTTGTACGGATTTTCAGGGGGTTCCT 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CCTGCCCCACAGTGTGGATAAAAAGGGGAATTACCACTATCTAGTAAAATGGAGGGACTTACCATATGACCAGTCCACGTGGGAGGAAGATGAAATGAATATCCCTGAATACGAAGAACATAAGCAAAGCTACTGGAGACACCGGTGAGGGAATGAGCTTGTGGATTCAAGGGATTCTGACGATGAGGGCATGAAAGCCAAAACTCCAGCATAAAATGAGGGTACAGTAGGGCCTGATTCAACCTGGAGTTCAGGGCAATGGCCACCTGAGCTGGGTTGTTTGAGATAGGCTTGCTAAAGAGGTAGTGTAAGGAACAGAAACAAGATCTGGCTGAGTAGTGGAGAAGAGGATGTTCAAGAGTGGGGAGGGCTGGCTCTTGAGGTGAAATCCAAAGGGCAAGGGTAAAGAGCCTGGGAAAAAGGAAATATGGGAAAATCTAGGTCATGGACAGTGGGAAGTAGGTCTGGAATGGGTTCAGAAAAGAAAGCGTAGGACTCCCAAGGATGAGGCCTCATTCAGACCCACTCTTTTTCCAGAGAACTAATTATGGGGGAAGACCCTGCCCAGCCCCGCAAGTATAAGAAGAAGAAGAAGGAGCTACAGGGTGATGGGCCTCCCAGTTCTCCCACTAATGATGTGAGTCCTCTCAGTTGTCATTTCTTGTTTCTGGAGTGATGGTGATCGAAGATTTTCCAAGGGCTACTGATGGAACTTCCCAGAGATTCAGTAACCTCTGTGAACAGTAGCTCTTCCTTCAGCATCCAGTCTTGCCCCAAGAGTGGCTAAGAATTTTGGCCTGAAAGGGCAGGAGCCACTAGAGATAGCCCACTGGTGGCTCTGTCACCAGCTGGCCCTTCCCCATGGTGCTGCTGGATATTGTCTTAAGGAATGAGGGGGAGGGGCTGAAGACTAGATGTGAGAACTTTTGTAAACTCAGGCCATAGTAGAGGGAATTGTAATCCAACTTGGTATCCATGCCAGGGAGGAAGAGACTAAGACTGGAGGAGCCGCCGACTATTTCCTTGAGCTTTCTGACTTCTTGTCTCTATAGCCTACCGTGAAATATGAGACTCAGCCACGGTTTATCACAGCCACTGGAGGCACCCTGCACATGTATCAGTTGGAAGGGCTGAACTGGCTACGCTTCTCCTGGGCCCAGGGCACTGACACCATTCTAGCTGATGAGATGGGGCTAGGCAAGACCATACAAACCATCGTCTTCCTCTACTCACTCTACAAGGAGGTGCTGGATTCTAGGACCTTGAAGGGGACCGCCTGGACTGGGGAAGTGGGGAGGGGGAAGATAAAGGGGTGTAGCTGGCAGAGGACTAGGGTATACGGCCTCTAGCCTAGACTTATGCTGCCCCCATTCTTGACTCCCAGGGCCACACAAAAGGTCCCTTCCTGGTGAGTGCCCCACTCTCTACCATCATTAACTGGGAGCGGGAGTTCCAGATGTGGGCACCCAAATTCTATGTGGTGACATACACGGGTGACAAGGACAGCCGGGCCATCATTCGTGAGAATGAATTCTCCTTTGAGGACAATGCCATCAAAGGGGGCAAGAAAGCTTTTAAGATGAAGGTAAGACCCTCTACCTCATATCCTCTGAGACCCTCAAAGCTGTCACTTCTTTTTCTCAGCCAGGAATTCAGTTTCTCTATTCCCCTCCTCACCTTTCTCCTCTTCCTCCACCTGTCCTCCTGTCTCTGCACTACCATCCTAGAGATATGGCAGGTACTCCCAGGGGCATACATGGATCTGTCGGTACTGGAAATGTGGGCAGAGGTTTAGGAGCCATGGTCTGTAATCCCTGCTTGGAGAACAGAGTAATGGCTCCTGTTGGGAGCCACAGTCAGGACAAGGTGTCTGGTTCTGGAGGTGTAGGTGCATGGTTGTCAGGTGGCAGCTGAATGGGCAATAATTATGTTGGCAGAGGGAGGCACAGGTGAAGTTCCATGTTCTCCTGACATCGTATGAGCTGATCACCATTGATCAGGCAGCACTTGGTTCCATCCGCTGGGCCTGTCTTGTGGTAGATGAGGCCGATCGACTCAAGAACAACCAGTCCAAGGTGAGTGAGGTTTCCAGACCTAAAAAACTTGAAGTTGTGGACTTCCCACTTGCCTTGGTCCTAAAAAACAACAAAAATTCTGGGGATTTTCTGTAGTCTGGGAGGACGTCCAGGTTGGAAGAGGGAGAGGGCCAGAGATTTGGGGCCTCTGATCCTGAGTGAAATGGGAGCTGGGGCAGGGAAAGGCTGATGCTGTGGGTCGGTCACTTGTCACTAATAAGCCCATTTTCCTGCCTTGCCTTGCCCCATCTTTTAGTTTTTCAGGGTTCTCAATGGTTACAAGATAGATCATAAGTTGCTGCTGACAGGAACCCCATTGCAGAATAATCTGGAGGAGCTCTTCCATCTCCTGAACTTCCTCACCCCAGAGAGATTTAAGTAAGTGGTTCCCTAAGGGTAGTTGGCAGAGATGAGAGGTGGAGCAGATAAAATGAGCTGGTAGAGGATTAATCTGAGGTGGTAAGTCTGAGATCAGGGGCAAGGAACTTGCCGACCTGTTAATTTTCTTCTCTTCTGGCTCTTAGCAACTTGGAGGGCTTCCTGGAGGAGTTTGCTGACATATCCAAAGAGGACCAGATCAAGAAACTGCATGATTTGCTGGGGCCACACATGCTGCGGAGACTCAAGGCAGATGTCTTTAAGAACATGCCAGCCAAGACAGAGCTCATCGTTCGGGTGGAGCTAAGCCCCATGCAGAAGTAAGATGCAAGACGAGCTGCCTGGAGTAGGGCTTGGGGATTGATGGGAGCGTTCCAAGTGCAATATCATAATTGCTTCCTTTATTTATGTTTCTTTTACACCCCTTTCCTGGCCTTTAGGAAATACTACAAATACATCCTGACTCGAAATTTTGAGGCCTTGAATTCACGAGGTGGTGGGAACCAGGTGTCGCTGCTTAATATCATGATGGATCTTAAGAAGTGCTGCAACCATCCATACCTTTTTCCCGTGGCTGCTATGGTAGATACACAGAGCAGGGAGCTGATCGAACGCCCATTCTCAGAAAACATGGGTGGGGAGTAGTGGGGAGGTGGGTATTGAGCCACAGGGGTGGAGCTGGGCTGGAAGGCCACGGACTGGGTGTCTGAGAACAGGAGGAATTGGGAACATGTGGAAGCTGGATCCGGGCATCTGGCCTTCTAGGTGTGGCAAGAATATGGGGGCATGTTTCCAACTGACCCCCTCCTCCTCCTCTCTCCTCCCTTTTCAGGAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTCATCTTCTCGCAGGTGACCTGTGCCCTTAGCTGTCTTTACATCTGCTTCCTCTTCCCTCTCCTCATCCTCCAGACTTTAATTTCTTACGGTCTTCCTGTGGCTGCTCTGGTGTGACAAATGAGGAGATTCCTCCTGTAAGAGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGTCAGGATGGTCTCCATCACCTGACCTCAGGTGATCTGCCCGCCTCGGTCTCCCAAAGTGCTGGGATTACTGTATAGCAAGTTCATTCTTGGCCTCTGATGCCTGTTCTTAAGGTTGCTGGAAGTTGAGGTCCAGCTCTAGTTCCTTTTCAGCTGCATGAGGGAAGGGGGAGGGTGAGCCATCTGCCTCCTTAGGGACTGGTATTATTTCTTCATCTTATTGGCAGGTGAGGGTGAAGGGCACAGACCCTTTGGAAATGTGATGAAAGCTCTGGGTCTACTCACCAGAAAACTGCACATACAATGACACAATTTTGTACGGATTTTCAGGGGGTTCCT 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Task1_train_23634 | This alteration in CHD3 (chromodomain helicase DNA binding protein 3) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Snijders Blok-Campeau syndrome | AGAGGATGTTCAAGAGTGGGGAGGGCTGGCTCTTGAGGTGAAATCCAAAGGGCAAGGGTAAAGAGCCTGGGAAAAAGGAAATATGGGAAAATCTAGGTCATGGACAGTGGGAAGTAGGTCTGGAATGGGTTCAGAAAAGAAAGCGTAGGACTCCCAAGGATGAGGCCTCATTCAGACCCACTCTTTTTCCAGAGAACTAATTATGGGGGAAGACCCTGCCCAGCCCCGCAAGTATAAGAAGAAGAAGAAGGAGCTACAGGGTGATGGGCCTCCCAGTTCTCCCACTAATGATGTGAGTCCTCTCAGTTGTCATTTCTTGTTTCTGGAGTGATGGTGATCGAAGATTTTCCAAGGGCTACTGATGGAACTTCCCAGAGATTCAGTAACCTCTGTGAACAGTAGCTCTTCCTTCAGCATCCAGTCTTGCCCCAAGAGTGGCTAAGAATTTTGGCCTGAAAGGGCAGGAGCCACTAGAGATAGCCCACTGGTGGCTCTGTCACCAGCTGGCCCTTCCCCATGGTGCTGCTGGATATTGTCTTAAGGAATGAGGGGGAGGGGCTGAAGACTAGATGTGAGAACTTTTGTAAACTCAGGCCATAGTAGAGGGAATTGTAATCCAACTTGGTATCCATGCCAGGGAGGAAGAGACTAAGACTGGAGGAGCCGCCGACTATTTCCTTGAGCTTTCTGACTTCTTGTCTCTATAGCCTACCGTGAAATATGAGACTCAGCCACGGTTTATCACAGCCACTGGAGGCACCCTGCACATGTATCAGTTGGAAGGGCTGAACTGGCTACGCTTCTCCTGGGCCCAGGGCACTGACACCATTCTAGCTGATGAGATGGGGCTAGGCAAGACCATACAAACCATCGTCTTCCTCTACTCACTCTACAAGGAGGTGCTGGATTCTAGGACCTTGAAGGGGACCGCCTGGACTGGGGAAGTGGGGAGGGGGAAGATAAAGGGGTGTAGCTGGCAGAGGACTAGGGTATACGGCCTCTAGCCTAGACTTATGCTGCCCCCATTCTTGACTCCCAGGGCCACACAAAAGGTCCCTTCCTGGTGAGTGCCCCACTCTCTACCATCATTAACTGGGAGCGGGAGTTCCAGATGTGGGCACCCAAATTCTATGTGGTGACATACACGGGTGACAAGGACAGCCGGGCCATCATTCGTGAGAATGAATTCTCCTTTGAGGACAATGCCATCAAAGGGGGCAAGAAAGCTTTTAAGATGAAGGTAAGACCCTCTACCTCATATCCTCTGAGACCCTCAAAGCTGTCACTTCTTTTTCTCAGCCAGGAATTCAGTTTCTCTATTCCCCTCCTCACCTTTCTCCTCTTCCTCCACCTGTCCTCCTGTCTCTGCACTACCATCCTAGAGATATGGCAGGTACTCCCAGGGGCATACATGGATCTGTCGGTACTGGAAATGTGGGCAGAGGTTTAGGAGCCATGGTCTGTAATCCCTGCTTGGAGAACAGAGTAATGGCTCCTGTTGGGAGCCACAGTCAGGACAAGGTGTCTGGTTCTGGAGGTGTAGGTGCATGGTTGTCAGGTGGCAGCTGAATGGGCAATAATTATGTTGGCAGAGGGAGGCACAGGTGAAGTTCCATGTTCTCCTGACATCGTATGAGCTGATCACCATTGATCAGGCAGCACTTGGTTCCATCCGCTGGGCCTGTCTTGTGGTAGATGAGGCCCATCGACTCAAGAACAACCAGTCCAAGGTGAGTGAGGTTTCCAGACCTAAAAAACTTGAAGTTGTGGACTTCCCACTTGCCTTGGTCCTAAAAAACAACAAAAATTCTGGGGATTTTCTGTAGTCTGGGAGGACGTCCAGGTTGGAAGAGGGAGAGGGCCAGAGATTTGGGGCCTCTGATCCTGAGTGAAATGGGAGCTGGGGCAGGGAAAGGCTGATGCTGTGGGTCGGTCACTTGTCACTAATAAGCCCATTTTCCTGCCTTGCCTTGCCCCATCTTTTAGTTTTTCAGGGTTCTCAATGGTTACAAGATAGATCATAAGTTGCTGCTGACAGGAACCCCATTGCAGAATAATCTGGAGGAGCTCTTCCATCTCCTGAACTTCCTCACCCCAGAGAGATTTAAGTAAGTGGTTCCCTAAGGGTAGTTGGCAGAGATGAGAGGTGGAGCAGATAAAATGAGCTGGTAGAGGATTAATCTGAGGTGGTAAGTCTGAGATCAGGGGCAAGGAACTTGCCGACCTGTTAATTTTCTTCTCTTCTGGCTCTTAGCAACTTGGAGGGCTTCCTGGAGGAGTTTGCTGACATATCCAAAGAGGACCAGATCAAGAAACTGCATGATTTGCTGGGGCCACACATGCTGCGGAGACTCAAGGCAGATGTCTTTAAGAACATGCCAGCCAAGACAGAGCTCATCGTTCGGGTGGAGCTAAGCCCCATGCAGAAGTAAGATGCAAGACGAGCTGCCTGGAGTAGGGCTTGGGGATTGATGGGAGCGTTCCAAGTGCAATATCATAATTGCTTCCTTTATTTATGTTTCTTTTACACCCCTTTCCTGGCCTTTAGGAAATACTACAAATACATCCTGACTCGAAATTTTGAGGCCTTGAATTCACGAGGTGGTGGGAACCAGGTGTCGCTGCTTAATATCATGATGGATCTTAAGAAGTGCTGCAACCATCCATACCTTTTTCCCGTGGCTGCTATGGTAGATACACAGAGCAGGGAGCTGATCGAACGCCCATTCTCAGAAAACATGGGTGGGGAGTAGTGGGGAGGTGGGTATTGAGCCACAGGGGTGGAGCTGGGCTGGAAGGCCACGGACTGGGTGTCTGAGAACAGGAGGAATTGGGAACATGTGGAAGCTGGATCCGGGCATCTGGCCTTCTAGGTGTGGCAAGAATATGGGGGCATGTTTCCAACTGACCCCCTCCTCCTCCTCTCTCCTCCCTTTTCAGGAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTCATCTTCTCGCAGGTGACCTGTGCCCTTAGCTGTCTTTACATCTGCTTCCTCTTCCCTCTCCTCATCCTCCAGACTTTAATTTCTTACGGTCTTCCTGTGGCTGCTCTGGTGTGACAAATGAGGAGATTCCTCCTGTAAGAGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGTCAGGATGGTCTCCATCACCTGACCTCAGGTGATCTGCCCGCCTCGGTCTCCCAAAGTGCTGGGATTACTGTATAGCAAGTTCATTCTTGGCCTCTGATGCCTGTTCTTAAGGTTGCTGGAAGTTGAGGTCCAGCTCTAGTTCCTTTTCAGCTGCATGAGGGAAGGGGGAGGGTGAGCCATCTGCCTCCTTAGGGACTGGTATTATTTCTTCATCTTATTGGCAGGTGAGGGTGAAGGGCACAGACCCTTTGGAAATGTGATGAAAGCTCTGGGTCTACTCACCAGAAAACTGCACATACAATGACACAATTTTGTACGGATTTTCAGGGGGTTCCTGGATTTCCCTGAAACCTTTTCATGGGTCTCAGAGAACCTCTGCCTTAGGAGAAACAATCTTAAATCAAGAGAGTGTGACAAGAGGGCCAGACGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAAGATCACTTGAGGTCAGGAGTTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTTAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCGGTAGGATCACTTGAACCCAGGAGTGGAGGTTGCAGTGAGCAGAGATGGCACCACTGCACTCCAGCTAGGGC 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AGAGGATGTTCAAGAGTGGGGAGGGCTGGCTCTTGAGGTGAAATCCAAAGGGCAAGGGTAAAGAGCCTGGGAAAAAGGAAATATGGGAAAATCTAGGTCATGGACAGTGGGAAGTAGGTCTGGAATGGGTTCAGAAAAGAAAGCGTAGGACTCCCAAGGATGAGGCCTCATTCAGACCCACTCTTTTTCCAGAGAACTAATTATGGGGGAAGACCCTGCCCAGCCCCGCAAGTATAAGAAGAAGAAGAAGGAGCTACAGGGTGATGGGCCTCCCAGTTCTCCCACTAATGATGTGAGTCCTCTCAGTTGTCATTTCTTGTTTCTGGAGTGATGGTGATCGAAGATTTTCCAAGGGCTACTGATGGAACTTCCCAGAGATTCAGTAACCTCTGTGAACAGTAGCTCTTCCTTCAGCATCCAGTCTTGCCCCAAGAGTGGCTAAGAATTTTGGCCTGAAAGGGCAGGAGCCACTAGAGATAGCCCACTGGTGGCTCTGTCACCAGCTGGCCCTTCCCCATGGTGCTGCTGGATATTGTCTTAAGGAATGAGGGGGAGGGGCTGAAGACTAGATGTGAGAACTTTTGTAAACTCAGGCCATAGTAGAGGGAATTGTAATCCAACTTGGTATCCATGCCAGGGAGGAAGAGACTAAGACTGGAGGAGCCGCCGACTATTTCCTTGAGCTTTCTGACTTCTTGTCTCTATAGCCTACCGTGAAATATGAGACTCAGCCACGGTTTATCACAGCCACTGGAGGCACCCTGCACATGTATCAGTTGGAAGGGCTGAACTGGCTACGCTTCTCCTGGGCCCAGGGCACTGACACCATTCTAGCTGATGAGATGGGGCTAGGCAAGACCATACAAACCATCGTCTTCCTCTACTCACTCTACAAGGAGGTGCTGGATTCTAGGACCTTGAAGGGGACCGCCTGGACTGGGGAAGTGGGGAGGGGGAAGATAAAGGGGTGTAGCTGGCAGAGGACTAGGGTATACGGCCTCTAGCCTAGACTTATGCTGCCCCCATTCTTGACTCCCAGGGCCACACAAAAGGTCCCTTCCTGGTGAGTGCCCCACTCTCTACCATCATTAACTGGGAGCGGGAGTTCCAGATGTGGGCACCCAAATTCTATGTGGTGACATACACGGGTGACAAGGACAGCCGGGCCATCATTCGTGAGAATGAATTCTCCTTTGAGGACAATGCCATCAAAGGGGGCAAGAAAGCTTTTAAGATGAAGGTAAGACCCTCTACCTCATATCCTCTGAGACCCTCAAAGCTGTCACTTCTTTTTCTCAGCCAGGAATTCAGTTTCTCTATTCCCCTCCTCACCTTTCTCCTCTTCCTCCACCTGTCCTCCTGTCTCTGCACTACCATCCTAGAGATATGGCAGGTACTCCCAGGGGCATACATGGATCTGTCGGTACTGGAAATGTGGGCAGAGGTTTAGGAGCCATGGTCTGTAATCCCTGCTTGGAGAACAGAGTAATGGCTCCTGTTGGGAGCCACAGTCAGGACAAGGTGTCTGGTTCTGGAGGTGTAGGTGCATGGTTGTCAGGTGGCAGCTGAATGGGCAATAATTATGTTGGCAGAGGGAGGCACAGGTGAAGTTCCATGTTCTCCTGACATCGTATGAGCTGATCACCATTGATCAGGCAGCACTTGGTTCCATCCGCTGGGCCTGTCTTGTGGTAGATGAGGCCCATCGACTCAAGAACAACCAGTCCAAGGTGAGTGAGGTTTCCAGACCTAAAAAACTTGAAGTTGTGGACTTCCCACTTGCCTTGGTCCTAAAAAACAACAAAAATTCTGGGGATTTTCTGTAGTCTGGGAGGACGTCCAGGTTGGAAGAGGGAGAGGGCCAGAGATTTGGGGCCTCTGATCCTGAGTGAAATGGGAGCTGGGGCAGGGAAAGGCTGATGCTGTGGGTCGGTCACTTGTCACTAATAAGCCCATTTTCCTGCCTTGCCTTGCCCCATCTTTTAGTTTTTCAGGGTTCTCAATGGTTACAAGATAGATCATAAGTTGCTGCTGACAGGAACCCCATTTCAGAATAATCTGGAGGAGCTCTTCCATCTCCTGAACTTCCTCACCCCAGAGAGATTTAAGTAAGTGGTTCCCTAAGGGTAGTTGGCAGAGATGAGAGGTGGAGCAGATAAAATGAGCTGGTAGAGGATTAATCTGAGGTGGTAAGTCTGAGATCAGGGGCAAGGAACTTGCCGACCTGTTAATTTTCTTCTCTTCTGGCTCTTAGCAACTTGGAGGGCTTCCTGGAGGAGTTTGCTGACATATCCAAAGAGGACCAGATCAAGAAACTGCATGATTTGCTGGGGCCACACATGCTGCGGAGACTCAAGGCAGATGTCTTTAAGAACATGCCAGCCAAGACAGAGCTCATCGTTCGGGTGGAGCTAAGCCCCATGCAGAAGTAAGATGCAAGACGAGCTGCCTGGAGTAGGGCTTGGGGATTGATGGGAGCGTTCCAAGTGCAATATCATAATTGCTTCCTTTATTTATGTTTCTTTTACACCCCTTTCCTGGCCTTTAGGAAATACTACAAATACATCCTGACTCGAAATTTTGAGGCCTTGAATTCACGAGGTGGTGGGAACCAGGTGTCGCTGCTTAATATCATGATGGATCTTAAGAAGTGCTGCAACCATCCATACCTTTTTCCCGTGGCTGCTATGGTAGATACACAGAGCAGGGAGCTGATCGAACGCCCATTCTCAGAAAACATGGGTGGGGAGTAGTGGGGAGGTGGGTATTGAGCCACAGGGGTGGAGCTGGGCTGGAAGGCCACGGACTGGGTGTCTGAGAACAGGAGGAATTGGGAACATGTGGAAGCTGGATCCGGGCATCTGGCCTTCTAGGTGTGGCAAGAATATGGGGGCATGTTTCCAACTGACCCCCTCCTCCTCCTCTCTCCTCCCTTTTCAGGAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTCATCTTCTCGCAGGTGACCTGTGCCCTTAGCTGTCTTTACATCTGCTTCCTCTTCCCTCTCCTCATCCTCCAGACTTTAATTTCTTACGGTCTTCCTGTGGCTGCTCTGGTGTGACAAATGAGGAGATTCCTCCTGTAAGAGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGTCAGGATGGTCTCCATCACCTGACCTCAGGTGATCTGCCCGCCTCGGTCTCCCAAAGTGCTGGGATTACTGTATAGCAAGTTCATTCTTGGCCTCTGATGCCTGTTCTTAAGGTTGCTGGAAGTTGAGGTCCAGCTCTAGTTCCTTTTCAGCTGCATGAGGGAAGGGGGAGGGTGAGCCATCTGCCTCCTTAGGGACTGGTATTATTTCTTCATCTTATTGGCAGGTGAGGGTGAAGGGCACAGACCCTTTGGAAATGTGATGAAAGCTCTGGGTCTACTCACCAGAAAACTGCACATACAATGACACAATTTTGTACGGATTTTCAGGGGGTTCCTGGATTTCCCTGAAACCTTTTCATGGGTCTCAGAGAACCTCTGCCTTAGGAGAAACAATCTTAAATCAAGAGAGTGTGACAAGAGGGCCAGACGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAAGATCACTTGAGGTCAGGAGTTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTTAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCGGTAGGATCACTTGAACCCAGGAGTGGAGGTTGCAGTGAGCAGAGATGGCACCACTGCACTCCAGCTAGGGC 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Task1_train_23635 | This sequence change occurs on Chromosome 17, altering CHD3 (chromodomain helicase DNA binding protein 3). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Snijders Blok-Campeau syndrome | AAATCCAAAGGGCAAGGGTAAAGAGCCTGGGAAAAAGGAAATATGGGAAAATCTAGGTCATGGACAGTGGGAAGTAGGTCTGGAATGGGTTCAGAAAAGAAAGCGTAGGACTCCCAAGGATGAGGCCTCATTCAGACCCACTCTTTTTCCAGAGAACTAATTATGGGGGAAGACCCTGCCCAGCCCCGCAAGTATAAGAAGAAGAAGAAGGAGCTACAGGGTGATGGGCCTCCCAGTTCTCCCACTAATGATGTGAGTCCTCTCAGTTGTCATTTCTTGTTTCTGGAGTGATGGTGATCGAAGATTTTCCAAGGGCTACTGATGGAACTTCCCAGAGATTCAGTAACCTCTGTGAACAGTAGCTCTTCCTTCAGCATCCAGTCTTGCCCCAAGAGTGGCTAAGAATTTTGGCCTGAAAGGGCAGGAGCCACTAGAGATAGCCCACTGGTGGCTCTGTCACCAGCTGGCCCTTCCCCATGGTGCTGCTGGATATTGTCTTAAGGAATGAGGGGGAGGGGCTGAAGACTAGATGTGAGAACTTTTGTAAACTCAGGCCATAGTAGAGGGAATTGTAATCCAACTTGGTATCCATGCCAGGGAGGAAGAGACTAAGACTGGAGGAGCCGCCGACTATTTCCTTGAGCTTTCTGACTTCTTGTCTCTATAGCCTACCGTGAAATATGAGACTCAGCCACGGTTTATCACAGCCACTGGAGGCACCCTGCACATGTATCAGTTGGAAGGGCTGAACTGGCTACGCTTCTCCTGGGCCCAGGGCACTGACACCATTCTAGCTGATGAGATGGGGCTAGGCAAGACCATACAAACCATCGTCTTCCTCTACTCACTCTACAAGGAGGTGCTGGATTCTAGGACCTTGAAGGGGACCGCCTGGACTGGGGAAGTGGGGAGGGGGAAGATAAAGGGGTGTAGCTGGCAGAGGACTAGGGTATACGGCCTCTAGCCTAGACTTATGCTGCCCCCATTCTTGACTCCCAGGGCCACACAAAAGGTCCCTTCCTGGTGAGTGCCCCACTCTCTACCATCATTAACTGGGAGCGGGAGTTCCAGATGTGGGCACCCAAATTCTATGTGGTGACATACACGGGTGACAAGGACAGCCGGGCCATCATTCGTGAGAATGAATTCTCCTTTGAGGACAATGCCATCAAAGGGGGCAAGAAAGCTTTTAAGATGAAGGTAAGACCCTCTACCTCATATCCTCTGAGACCCTCAAAGCTGTCACTTCTTTTTCTCAGCCAGGAATTCAGTTTCTCTATTCCCCTCCTCACCTTTCTCCTCTTCCTCCACCTGTCCTCCTGTCTCTGCACTACCATCCTAGAGATATGGCAGGTACTCCCAGGGGCATACATGGATCTGTCGGTACTGGAAATGTGGGCAGAGGTTTAGGAGCCATGGTCTGTAATCCCTGCTTGGAGAACAGAGTAATGGCTCCTGTTGGGAGCCACAGTCAGGACAAGGTGTCTGGTTCTGGAGGTGTAGGTGCATGGTTGTCAGGTGGCAGCTGAATGGGCAATAATTATGTTGGCAGAGGGAGGCACAGGTGAAGTTCCATGTTCTCCTGACATCGTATGAGCTGATCACCATTGATCAGGCAGCACTTGGTTCCATCCGCTGGGCCTGTCTTGTGGTAGATGAGGCCCATCGACTCAAGAACAACCAGTCCAAGGTGAGTGAGGTTTCCAGACCTAAAAAACTTGAAGTTGTGGACTTCCCACTTGCCTTGGTCCTAAAAAACAACAAAAATTCTGGGGATTTTCTGTAGTCTGGGAGGACGTCCAGGTTGGAAGAGGGAGAGGGCCAGAGATTTGGGGCCTCTGATCCTGAGTGAAATGGGAGCTGGGGCAGGGAAAGGCTGATGCTGTGGGTCGGTCACTTGTCACTAATAAGCCCATTTTCCTGCCTTGCCTTGCCCCATCTTTTAGTTTTTCAGGGTTCTCAATGGTTACAAGATAGATCATAAGTTGCTGCTGACAGGAACCCCATTGCAGAATAATCTGGAGGAGCTCTTCCATCTCCTGAACTTCCTCACCCCAGAGAGATTTAAGTAAGTGGTTCCCTAAGGGTAGTTGGCAGAGATGAGAGGTGGAGCAGATAAAATGAGCTGGTAGAGGATTAATCTGAGGTGGTAAGTCTGAGATCAGGGGCAAGGAACTTGCCGACCTGTTAATTTTCTTCTCTTCTGGCTCTTAGCAACTTGGAGGGCTTCCTGGAGGAGTTTGCTGACATATCCAAAGAGGACCAGATCAAGAAACTGCATGATTTGCTGGGGCCACACATGCTGCGGAGACTCAAGGCAGATGTCTTTAAGAACATGCCAGCCAAGACAGAGCTCATCGTTCGGGTGGAGCTAAGCCCCATGCAGAAGTAAGATGCAAGACGAGCTGCCTGGAGTAGGGCTTGGGGATTGATGGGAGCGTTCCAAGTGCAATATCATAATTGCTTCCTTTATTTATGTTTCTTTTACACCCCTTTCCTGGCCTTTAGGAAATACTACAAATACATCCTGACTCGAAATTTTGAGGCCTTGAATTCACGAGGTGGTGGGAACCAGGTGTCGCTGCTTAATATCATGATGGATCTTAAGAAGTGCTGCAACCATCCATACCTTTTTCCCGTGGCTGCTATGGTAGATACACAGAGCAGGGAGCTGATCGAACGCCCATTCTCAGAAAACATGGGTGGGGAGTAGTGGGGAGGTGGGTATTGAGCCACAGGGGTGGAGCTGGGCTGGAAGGCCACGGACTGGGTGTCTGAGAACAGGAGGAATTGGGAACATGTGGAAGCTGGATCCGGGCATCTGGCCTTCTAGGTGTGGCAAGAATATGGGGGCATGTTTCCAACTGACCCCCTCCTCCTCCTCTCTCCTCCCTTTTCAGGAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTCATCTTCTCGCAGGTGACCTGTGCCCTTAGCTGTCTTTACATCTGCTTCCTCTTCCCTCTCCTCATCCTCCAGACTTTAATTTCTTACGGTCTTCCTGTGGCTGCTCTGGTGTGACAAATGAGGAGATTCCTCCTGTAAGAGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGTCAGGATGGTCTCCATCACCTGACCTCAGGTGATCTGCCCGCCTCGGTCTCCCAAAGTGCTGGGATTACTGTATAGCAAGTTCATTCTTGGCCTCTGATGCCTGTTCTTAAGGTTGCTGGAAGTTGAGGTCCAGCTCTAGTTCCTTTTCAGCTGCATGAGGGAAGGGGGAGGGTGAGCCATCTGCCTCCTTAGGGACTGGTATTATTTCTTCATCTTATTGGCAGGTGAGGGTGAAGGGCACAGACCCTTTGGAAATGTGATGAAAGCTCTGGGTCTACTCACCAGAAAACTGCACATACAATGACACAATTTTGTACGGATTTTCAGGGGGTTCCTGGATTTCCCTGAAACCTTTTCATGGGTCTCAGAGAACCTCTGCCTTAGGAGAAACAATCTTAAATCAAGAGAGTGTGACAAGAGGGCCAGACGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAAGATCACTTGAGGTCAGGAGTTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTTAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCGGTAGGATCACTTGAACCCAGGAGTGGAGGTTGCAGTGAGCAGAGATGGCACCACTGCACTCCAGCTAGGGCAACAGAATGAGACTCCATCTCAAAAAAAAATAAAAATAAA 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AAATCCAAAGGGCAAGGGTAAAGAGCCTGGGAAAAAGGAAATATGGGAAAATCTAGGTCATGGACAGTGGGAAGTAGGTCTGGAATGGGTTCAGAAAAGAAAGCGTAGGACTCCCAAGGATGAGGCCTCATTCAGACCCACTCTTTTTCCAGAGAACTAATTATGGGGGAAGACCCTGCCCAGCCCCGCAAGTATAAGAAGAAGAAGAAGGAGCTACAGGGTGATGGGCCTCCCAGTTCTCCCACTAATGATGTGAGTCCTCTCAGTTGTCATTTCTTGTTTCTGGAGTGATGGTGATCGAAGATTTTCCAAGGGCTACTGATGGAACTTCCCAGAGATTCAGTAACCTCTGTGAACAGTAGCTCTTCCTTCAGCATCCAGTCTTGCCCCAAGAGTGGCTAAGAATTTTGGCCTGAAAGGGCAGGAGCCACTAGAGATAGCCCACTGGTGGCTCTGTCACCAGCTGGCCCTTCCCCATGGTGCTGCTGGATATTGTCTTAAGGAATGAGGGGGAGGGGCTGAAGACTAGATGTGAGAACTTTTGTAAACTCAGGCCATAGTAGAGGGAATTGTAATCCAACTTGGTATCCATGCCAGGGAGGAAGAGACTAAGACTGGAGGAGCCGCCGACTATTTCCTTGAGCTTTCTGACTTCTTGTCTCTATAGCCTACCGTGAAATATGAGACTCAGCCACGGTTTATCACAGCCACTGGAGGCACCCTGCACATGTATCAGTTGGAAGGGCTGAACTGGCTACGCTTCTCCTGGGCCCAGGGCACTGACACCATTCTAGCTGATGAGATGGGGCTAGGCAAGACCATACAAACCATCGTCTTCCTCTACTCACTCTACAAGGAGGTGCTGGATTCTAGGACCTTGAAGGGGACCGCCTGGACTGGGGAAGTGGGGAGGGGGAAGATAAAGGGGTGTAGCTGGCAGAGGACTAGGGTATACGGCCTCTAGCCTAGACTTATGCTGCCCCCATTCTTGACTCCCAGGGCCACACAAAAGGTCCCTTCCTGGTGAGTGCCCCACTCTCTACCATCATTAACTGGGAGCGGGAGTTCCAGATGTGGGCACCCAAATTCTATGTGGTGACATACACGGGTGACAAGGACAGCCGGGCCATCATTCGTGAGAATGAATTCTCCTTTGAGGACAATGCCATCAAAGGGGGCAAGAAAGCTTTTAAGATGAAGGTAAGACCCTCTACCTCATATCCTCTGAGACCCTCAAAGCTGTCACTTCTTTTTCTCAGCCAGGAATTCAGTTTCTCTATTCCCCTCCTCACCTTTCTCCTCTTCCTCCACCTGTCCTCCTGTCTCTGCACTACCATCCTAGAGATATGGCAGGTACTCCCAGGGGCATACATGGATCTGTCGGTACTGGAAATGTGGGCAGAGGTTTAGGAGCCATGGTCTGTAATCCCTGCTTGGAGAACAGAGTAATGGCTCCTGTTGGGAGCCACAGTCAGGACAAGGTGTCTGGTTCTGGAGGTGTAGGTGCATGGTTGTCAGGTGGCAGCTGAATGGGCAATAATTATGTTGGCAGAGGGAGGCACAGGTGAAGTTCCATGTTCTCCTGACATCGTATGAGCTGATCACCATTGATCAGGCAGCACTTGGTTCCATCCGCTGGGCCTGTCTTGTGGTAGATGAGGCCCATCGACTCAAGAACAACCAGTCCAAGGTGAGTGAGGTTTCCAGACCTAAAAAACTTGAAGTTGTGGACTTCCCACTTGCCTTGGTCCTAAAAAACAACAAAAATTCTGGGGATTTTCTGTAGTCTGGGAGGACGTCCAGGTTGGAAGAGGGAGAGGGCCAGAGATTTGGGGCCTCTGATCCTGAGTGAAATGGGAGCTGGGGCAGGGAAAGGCTGATGCTGTGGGTCGGTCACTTGTCACTAATAAGCCCATTTTCCTGCCTTGCCTTGCCCCATCTTTTAGTTTTTCAGGGTTCTCAATGGTTACAAGATAGATCATAAGTTGCTGCTGACAGGAACCCCATTGCAGAATAATCTGGAGGAGCTCTTCCATCTCCTGAACTTCTTCACCCCAGAGAGATTTAAGTAAGTGGTTCCCTAAGGGTAGTTGGCAGAGATGAGAGGTGGAGCAGATAAAATGAGCTGGTAGAGGATTAATCTGAGGTGGTAAGTCTGAGATCAGGGGCAAGGAACTTGCCGACCTGTTAATTTTCTTCTCTTCTGGCTCTTAGCAACTTGGAGGGCTTCCTGGAGGAGTTTGCTGACATATCCAAAGAGGACCAGATCAAGAAACTGCATGATTTGCTGGGGCCACACATGCTGCGGAGACTCAAGGCAGATGTCTTTAAGAACATGCCAGCCAAGACAGAGCTCATCGTTCGGGTGGAGCTAAGCCCCATGCAGAAGTAAGATGCAAGACGAGCTGCCTGGAGTAGGGCTTGGGGATTGATGGGAGCGTTCCAAGTGCAATATCATAATTGCTTCCTTTATTTATGTTTCTTTTACACCCCTTTCCTGGCCTTTAGGAAATACTACAAATACATCCTGACTCGAAATTTTGAGGCCTTGAATTCACGAGGTGGTGGGAACCAGGTGTCGCTGCTTAATATCATGATGGATCTTAAGAAGTGCTGCAACCATCCATACCTTTTTCCCGTGGCTGCTATGGTAGATACACAGAGCAGGGAGCTGATCGAACGCCCATTCTCAGAAAACATGGGTGGGGAGTAGTGGGGAGGTGGGTATTGAGCCACAGGGGTGGAGCTGGGCTGGAAGGCCACGGACTGGGTGTCTGAGAACAGGAGGAATTGGGAACATGTGGAAGCTGGATCCGGGCATCTGGCCTTCTAGGTGTGGCAAGAATATGGGGGCATGTTTCCAACTGACCCCCTCCTCCTCCTCTCTCCTCCCTTTTCAGGAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTCATCTTCTCGCAGGTGACCTGTGCCCTTAGCTGTCTTTACATCTGCTTCCTCTTCCCTCTCCTCATCCTCCAGACTTTAATTTCTTACGGTCTTCCTGTGGCTGCTCTGGTGTGACAAATGAGGAGATTCCTCCTGTAAGAGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGTCAGGATGGTCTCCATCACCTGACCTCAGGTGATCTGCCCGCCTCGGTCTCCCAAAGTGCTGGGATTACTGTATAGCAAGTTCATTCTTGGCCTCTGATGCCTGTTCTTAAGGTTGCTGGAAGTTGAGGTCCAGCTCTAGTTCCTTTTCAGCTGCATGAGGGAAGGGGGAGGGTGAGCCATCTGCCTCCTTAGGGACTGGTATTATTTCTTCATCTTATTGGCAGGTGAGGGTGAAGGGCACAGACCCTTTGGAAATGTGATGAAAGCTCTGGGTCTACTCACCAGAAAACTGCACATACAATGACACAATTTTGTACGGATTTTCAGGGGGTTCCTGGATTTCCCTGAAACCTTTTCATGGGTCTCAGAGAACCTCTGCCTTAGGAGAAACAATCTTAAATCAAGAGAGTGTGACAAGAGGGCCAGACGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAAGATCACTTGAGGTCAGGAGTTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTTAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCGGTAGGATCACTTGAACCCAGGAGTGGAGGTTGCAGTGAGCAGAGATGGCACCACTGCACTCCAGCTAGGGCAACAGAATGAGACTCCATCTCAAAAAAAAATAAAAATAAA 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Task1_train_23636 | The gene CHD3 (chromodomain helicase DNA binding protein 3) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Inborn genetic diseases | TCCTCTCAGTTGTCATTTCTTGTTTCTGGAGTGATGGTGATCGAAGATTTTCCAAGGGCTACTGATGGAACTTCCCAGAGATTCAGTAACCTCTGTGAACAGTAGCTCTTCCTTCAGCATCCAGTCTTGCCCCAAGAGTGGCTAAGAATTTTGGCCTGAAAGGGCAGGAGCCACTAGAGATAGCCCACTGGTGGCTCTGTCACCAGCTGGCCCTTCCCCATGGTGCTGCTGGATATTGTCTTAAGGAATGAGGGGGAGGGGCTGAAGACTAGATGTGAGAACTTTTGTAAACTCAGGCCATAGTAGAGGGAATTGTAATCCAACTTGGTATCCATGCCAGGGAGGAAGAGACTAAGACTGGAGGAGCCGCCGACTATTTCCTTGAGCTTTCTGACTTCTTGTCTCTATAGCCTACCGTGAAATATGAGACTCAGCCACGGTTTATCACAGCCACTGGAGGCACCCTGCACATGTATCAGTTGGAAGGGCTGAACTGGCTACGCTTCTCCTGGGCCCAGGGCACTGACACCATTCTAGCTGATGAGATGGGGCTAGGCAAGACCATACAAACCATCGTCTTCCTCTACTCACTCTACAAGGAGGTGCTGGATTCTAGGACCTTGAAGGGGACCGCCTGGACTGGGGAAGTGGGGAGGGGGAAGATAAAGGGGTGTAGCTGGCAGAGGACTAGGGTATACGGCCTCTAGCCTAGACTTATGCTGCCCCCATTCTTGACTCCCAGGGCCACACAAAAGGTCCCTTCCTGGTGAGTGCCCCACTCTCTACCATCATTAACTGGGAGCGGGAGTTCCAGATGTGGGCACCCAAATTCTATGTGGTGACATACACGGGTGACAAGGACAGCCGGGCCATCATTCGTGAGAATGAATTCTCCTTTGAGGACAATGCCATCAAAGGGGGCAAGAAAGCTTTTAAGATGAAGGTAAGACCCTCTACCTCATATCCTCTGAGACCCTCAAAGCTGTCACTTCTTTTTCTCAGCCAGGAATTCAGTTTCTCTATTCCCCTCCTCACCTTTCTCCTCTTCCTCCACCTGTCCTCCTGTCTCTGCACTACCATCCTAGAGATATGGCAGGTACTCCCAGGGGCATACATGGATCTGTCGGTACTGGAAATGTGGGCAGAGGTTTAGGAGCCATGGTCTGTAATCCCTGCTTGGAGAACAGAGTAATGGCTCCTGTTGGGAGCCACAGTCAGGACAAGGTGTCTGGTTCTGGAGGTGTAGGTGCATGGTTGTCAGGTGGCAGCTGAATGGGCAATAATTATGTTGGCAGAGGGAGGCACAGGTGAAGTTCCATGTTCTCCTGACATCGTATGAGCTGATCACCATTGATCAGGCAGCACTTGGTTCCATCCGCTGGGCCTGTCTTGTGGTAGATGAGGCCCATCGACTCAAGAACAACCAGTCCAAGGTGAGTGAGGTTTCCAGACCTAAAAAACTTGAAGTTGTGGACTTCCCACTTGCCTTGGTCCTAAAAAACAACAAAAATTCTGGGGATTTTCTGTAGTCTGGGAGGACGTCCAGGTTGGAAGAGGGAGAGGGCCAGAGATTTGGGGCCTCTGATCCTGAGTGAAATGGGAGCTGGGGCAGGGAAAGGCTGATGCTGTGGGTCGGTCACTTGTCACTAATAAGCCCATTTTCCTGCCTTGCCTTGCCCCATCTTTTAGTTTTTCAGGGTTCTCAATGGTTACAAGATAGATCATAAGTTGCTGCTGACAGGAACCCCATTGCAGAATAATCTGGAGGAGCTCTTCCATCTCCTGAACTTCCTCACCCCAGAGAGATTTAAGTAAGTGGTTCCCTAAGGGTAGTTGGCAGAGATGAGAGGTGGAGCAGATAAAATGAGCTGGTAGAGGATTAATCTGAGGTGGTAAGTCTGAGATCAGGGGCAAGGAACTTGCCGACCTGTTAATTTTCTTCTCTTCTGGCTCTTAGCAACTTGGAGGGCTTCCTGGAGGAGTTTGCTGACATATCCAAAGAGGACCAGATCAAGAAACTGCATGATTTGCTGGGGCCACACATGCTGCGGAGACTCAAGGCAGATGTCTTTAAGAACATGCCAGCCAAGACAGAGCTCATCGTTCGGGTGGAGCTAAGCCCCATGCAGAAGTAAGATGCAAGACGAGCTGCCTGGAGTAGGGCTTGGGGATTGATGGGAGCGTTCCAAGTGCAATATCATAATTGCTTCCTTTATTTATGTTTCTTTTACACCCCTTTCCTGGCCTTTAGGAAATACTACAAATACATCCTGACTCGAAATTTTGAGGCCTTGAATTCACGAGGTGGTGGGAACCAGGTGTCGCTGCTTAATATCATGATGGATCTTAAGAAGTGCTGCAACCATCCATACCTTTTTCCCGTGGCTGCTATGGTAGATACACAGAGCAGGGAGCTGATCGAACGCCCATTCTCAGAAAACATGGGTGGGGAGTAGTGGGGAGGTGGGTATTGAGCCACAGGGGTGGAGCTGGGCTGGAAGGCCACGGACTGGGTGTCTGAGAACAGGAGGAATTGGGAACATGTGGAAGCTGGATCCGGGCATCTGGCCTTCTAGGTGTGGCAAGAATATGGGGGCATGTTTCCAACTGACCCCCTCCTCCTCCTCTCTCCTCCCTTTTCAGGAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTCATCTTCTCGCAGGTGACCTGTGCCCTTAGCTGTCTTTACATCTGCTTCCTCTTCCCTCTCCTCATCCTCCAGACTTTAATTTCTTACGGTCTTCCTGTGGCTGCTCTGGTGTGACAAATGAGGAGATTCCTCCTGTAAGAGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGTCAGGATGGTCTCCATCACCTGACCTCAGGTGATCTGCCCGCCTCGGTCTCCCAAAGTGCTGGGATTACTGTATAGCAAGTTCATTCTTGGCCTCTGATGCCTGTTCTTAAGGTTGCTGGAAGTTGAGGTCCAGCTCTAGTTCCTTTTCAGCTGCATGAGGGAAGGGGGAGGGTGAGCCATCTGCCTCCTTAGGGACTGGTATTATTTCTTCATCTTATTGGCAGGTGAGGGTGAAGGGCACAGACCCTTTGGAAATGTGATGAAAGCTCTGGGTCTACTCACCAGAAAACTGCACATACAATGACACAATTTTGTACGGATTTTCAGGGGGTTCCTGGATTTCCCTGAAACCTTTTCATGGGTCTCAGAGAACCTCTGCCTTAGGAGAAACAATCTTAAATCAAGAGAGTGTGACAAGAGGGCCAGACGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAAGATCACTTGAGGTCAGGAGTTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTTAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCGGTAGGATCACTTGAACCCAGGAGTGGAGGTTGCAGTGAGCAGAGATGGCACCACTGCACTCCAGCTAGGGCAACAGAATGAGACTCCATCTCAAAAAAAAATAAAAATAAATAAAAATAAGAAAAGAGAGTGTGACAAGAAGGTGGAATAATGAGGAGCTTAAGACAGGGCAGGGGTTCAGGTGTAAAGATTAGGGTTGAGTTTGTGTAAAGGAGTAGTTAGAATAAGCAAGCATCCCACCACCTCATTATTGCAGACTCCATCCTTTTCTCTTGCTCTAGATGACCAAAATGTTAGACTTGCTTGAGGACTTCTTAGACTATGAAGGCTACAAGTATGAGCGCATCGATGGTGGTATCACGGGTGCC 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TCCTCTCAGTTGTCATTTCTTGTTTCTGGAGTGATGGTGATCGAAGATTTTCCAAGGGCTACTGATGGAACTTCCCAGAGATTCAGTAACCTCTGTGAACAGTAGCTCTTCCTTCAGCATCCAGTCTTGCCCCAAGAGTGGCTAAGAATTTTGGCCTGAAAGGGCAGGAGCCACTAGAGATAGCCCACTGGTGGCTCTGTCACCAGCTGGCCCTTCCCCATGGTGCTGCTGGATATTGTCTTAAGGAATGAGGGGGAGGGGCTGAAGACTAGATGTGAGAACTTTTGTAAACTCAGGCCATAGTAGAGGGAATTGTAATCCAACTTGGTATCCATGCCAGGGAGGAAGAGACTAAGACTGGAGGAGCCGCCGACTATTTCCTTGAGCTTTCTGACTTCTTGTCTCTATAGCCTACCGTGAAATATGAGACTCAGCCACGGTTTATCACAGCCACTGGAGGCACCCTGCACATGTATCAGTTGGAAGGGCTGAACTGGCTACGCTTCTCCTGGGCCCAGGGCACTGACACCATTCTAGCTGATGAGATGGGGCTAGGCAAGACCATACAAACCATCGTCTTCCTCTACTCACTCTACAAGGAGGTGCTGGATTCTAGGACCTTGAAGGGGACCGCCTGGACTGGGGAAGTGGGGAGGGGGAAGATAAAGGGGTGTAGCTGGCAGAGGACTAGGGTATACGGCCTCTAGCCTAGACTTATGCTGCCCCCATTCTTGACTCCCAGGGCCACACAAAAGGTCCCTTCCTGGTGAGTGCCCCACTCTCTACCATCATTAACTGGGAGCGGGAGTTCCAGATGTGGGCACCCAAATTCTATGTGGTGACATACACGGGTGACAAGGACAGCCGGGCCATCATTCGTGAGAATGAATTCTCCTTTGAGGACAATGCCATCAAAGGGGGCAAGAAAGCTTTTAAGATGAAGGTAAGACCCTCTACCTCATATCCTCTGAGACCCTCAAAGCTGTCACTTCTTTTTCTCAGCCAGGAATTCAGTTTCTCTATTCCCCTCCTCACCTTTCTCCTCTTCCTCCACCTGTCCTCCTGTCTCTGCACTACCATCCTAGAGATATGGCAGGTACTCCCAGGGGCATACATGGATCTGTCGGTACTGGAAATGTGGGCAGAGGTTTAGGAGCCATGGTCTGTAATCCCTGCTTGGAGAACAGAGTAATGGCTCCTGTTGGGAGCCACAGTCAGGACAAGGTGTCTGGTTCTGGAGGTGTAGGTGCATGGTTGTCAGGTGGCAGCTGAATGGGCAATAATTATGTTGGCAGAGGGAGGCACAGGTGAAGTTCCATGTTCTCCTGACATCGTATGAGCTGATCACCATTGATCAGGCAGCACTTGGTTCCATCCGCTGGGCCTGTCTTGTGGTAGATGAGGCCCATCGACTCAAGAACAACCAGTCCAAGGTGAGTGAGGTTTCCAGACCTAAAAAACTTGAAGTTGTGGACTTCCCACTTGCCTTGGTCCTAAAAAACAACAAAAATTCTGGGGATTTTCTGTAGTCTGGGAGGACGTCCAGGTTGGAAGAGGGAGAGGGCCAGAGATTTGGGGCCTCTGATCCTGAGTGAAATGGGAGCTGGGGCAGGGAAAGGCTGATGCTGTGGGTCGGTCACTTGTCACTAATAAGCCCATTTTCCTGCCTTGCCTTGCCCCATCTTTTAGTTTTTCAGGGTTCTCAATGGTTACAAGATAGATCATAAGTTGCTGCTGACAGGAACCCCATTGCAGAATAATCTGGAGGAGCTCTTCCATCTCCTGAACTTCCTCACCCCAGAGAGATTTAAGTAAGTGGTTCCCTAAGGGTAGTTGGCAGAGATGAGAGGTGGAGCAGATAAAATGAGCTGGTAGAGGATTAATCTGAGGTGGTAAGTCTGAGATCAGGGGCAAGGAACTTGCCGACCTGTTAATTTTCTTCTCTTCTGGCTCTTAGCAACTTGGAGGGCTTCCTGGAGGAGTTTGCTGACATATCCAAAGAGGACCAGATCAAGAAACTGCATGATTTGCTGGGGCCACACATGCTGTGGAGACTCAAGGCAGATGTCTTTAAGAACATGCCAGCCAAGACAGAGCTCATCGTTCGGGTGGAGCTAAGCCCCATGCAGAAGTAAGATGCAAGACGAGCTGCCTGGAGTAGGGCTTGGGGATTGATGGGAGCGTTCCAAGTGCAATATCATAATTGCTTCCTTTATTTATGTTTCTTTTACACCCCTTTCCTGGCCTTTAGGAAATACTACAAATACATCCTGACTCGAAATTTTGAGGCCTTGAATTCACGAGGTGGTGGGAACCAGGTGTCGCTGCTTAATATCATGATGGATCTTAAGAAGTGCTGCAACCATCCATACCTTTTTCCCGTGGCTGCTATGGTAGATACACAGAGCAGGGAGCTGATCGAACGCCCATTCTCAGAAAACATGGGTGGGGAGTAGTGGGGAGGTGGGTATTGAGCCACAGGGGTGGAGCTGGGCTGGAAGGCCACGGACTGGGTGTCTGAGAACAGGAGGAATTGGGAACATGTGGAAGCTGGATCCGGGCATCTGGCCTTCTAGGTGTGGCAAGAATATGGGGGCATGTTTCCAACTGACCCCCTCCTCCTCCTCTCTCCTCCCTTTTCAGGAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTCATCTTCTCGCAGGTGACCTGTGCCCTTAGCTGTCTTTACATCTGCTTCCTCTTCCCTCTCCTCATCCTCCAGACTTTAATTTCTTACGGTCTTCCTGTGGCTGCTCTGGTGTGACAAATGAGGAGATTCCTCCTGTAAGAGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGTCAGGATGGTCTCCATCACCTGACCTCAGGTGATCTGCCCGCCTCGGTCTCCCAAAGTGCTGGGATTACTGTATAGCAAGTTCATTCTTGGCCTCTGATGCCTGTTCTTAAGGTTGCTGGAAGTTGAGGTCCAGCTCTAGTTCCTTTTCAGCTGCATGAGGGAAGGGGGAGGGTGAGCCATCTGCCTCCTTAGGGACTGGTATTATTTCTTCATCTTATTGGCAGGTGAGGGTGAAGGGCACAGACCCTTTGGAAATGTGATGAAAGCTCTGGGTCTACTCACCAGAAAACTGCACATACAATGACACAATTTTGTACGGATTTTCAGGGGGTTCCTGGATTTCCCTGAAACCTTTTCATGGGTCTCAGAGAACCTCTGCCTTAGGAGAAACAATCTTAAATCAAGAGAGTGTGACAAGAGGGCCAGACGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAAGATCACTTGAGGTCAGGAGTTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTTAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCGGTAGGATCACTTGAACCCAGGAGTGGAGGTTGCAGTGAGCAGAGATGGCACCACTGCACTCCAGCTAGGGCAACAGAATGAGACTCCATCTCAAAAAAAAATAAAAATAAATAAAAATAAGAAAAGAGAGTGTGACAAGAAGGTGGAATAATGAGGAGCTTAAGACAGGGCAGGGGTTCAGGTGTAAAGATTAGGGTTGAGTTTGTGTAAAGGAGTAGTTAGAATAAGCAAGCATCCCACCACCTCATTATTGCAGACTCCATCCTTTTCTCTTGCTCTAGATGACCAAAATGTTAGACTTGCTTGAGGACTTCTTAGACTATGAAGGCTACAAGTATGAGCGCATCGATGGTGGTATCACGGGTGCC 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Task1_train_23637 | A sequence alteration has been identified in CHD3 (chromodomain helicase DNA binding protein 3) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Snijders Blok-Campeau syndrome | CTACTGATGGAACTTCCCAGAGATTCAGTAACCTCTGTGAACAGTAGCTCTTCCTTCAGCATCCAGTCTTGCCCCAAGAGTGGCTAAGAATTTTGGCCTGAAAGGGCAGGAGCCACTAGAGATAGCCCACTGGTGGCTCTGTCACCAGCTGGCCCTTCCCCATGGTGCTGCTGGATATTGTCTTAAGGAATGAGGGGGAGGGGCTGAAGACTAGATGTGAGAACTTTTGTAAACTCAGGCCATAGTAGAGGGAATTGTAATCCAACTTGGTATCCATGCCAGGGAGGAAGAGACTAAGACTGGAGGAGCCGCCGACTATTTCCTTGAGCTTTCTGACTTCTTGTCTCTATAGCCTACCGTGAAATATGAGACTCAGCCACGGTTTATCACAGCCACTGGAGGCACCCTGCACATGTATCAGTTGGAAGGGCTGAACTGGCTACGCTTCTCCTGGGCCCAGGGCACTGACACCATTCTAGCTGATGAGATGGGGCTAGGCAAGACCATACAAACCATCGTCTTCCTCTACTCACTCTACAAGGAGGTGCTGGATTCTAGGACCTTGAAGGGGACCGCCTGGACTGGGGAAGTGGGGAGGGGGAAGATAAAGGGGTGTAGCTGGCAGAGGACTAGGGTATACGGCCTCTAGCCTAGACTTATGCTGCCCCCATTCTTGACTCCCAGGGCCACACAAAAGGTCCCTTCCTGGTGAGTGCCCCACTCTCTACCATCATTAACTGGGAGCGGGAGTTCCAGATGTGGGCACCCAAATTCTATGTGGTGACATACACGGGTGACAAGGACAGCCGGGCCATCATTCGTGAGAATGAATTCTCCTTTGAGGACAATGCCATCAAAGGGGGCAAGAAAGCTTTTAAGATGAAGGTAAGACCCTCTACCTCATATCCTCTGAGACCCTCAAAGCTGTCACTTCTTTTTCTCAGCCAGGAATTCAGTTTCTCTATTCCCCTCCTCACCTTTCTCCTCTTCCTCCACCTGTCCTCCTGTCTCTGCACTACCATCCTAGAGATATGGCAGGTACTCCCAGGGGCATACATGGATCTGTCGGTACTGGAAATGTGGGCAGAGGTTTAGGAGCCATGGTCTGTAATCCCTGCTTGGAGAACAGAGTAATGGCTCCTGTTGGGAGCCACAGTCAGGACAAGGTGTCTGGTTCTGGAGGTGTAGGTGCATGGTTGTCAGGTGGCAGCTGAATGGGCAATAATTATGTTGGCAGAGGGAGGCACAGGTGAAGTTCCATGTTCTCCTGACATCGTATGAGCTGATCACCATTGATCAGGCAGCACTTGGTTCCATCCGCTGGGCCTGTCTTGTGGTAGATGAGGCCCATCGACTCAAGAACAACCAGTCCAAGGTGAGTGAGGTTTCCAGACCTAAAAAACTTGAAGTTGTGGACTTCCCACTTGCCTTGGTCCTAAAAAACAACAAAAATTCTGGGGATTTTCTGTAGTCTGGGAGGACGTCCAGGTTGGAAGAGGGAGAGGGCCAGAGATTTGGGGCCTCTGATCCTGAGTGAAATGGGAGCTGGGGCAGGGAAAGGCTGATGCTGTGGGTCGGTCACTTGTCACTAATAAGCCCATTTTCCTGCCTTGCCTTGCCCCATCTTTTAGTTTTTCAGGGTTCTCAATGGTTACAAGATAGATCATAAGTTGCTGCTGACAGGAACCCCATTGCAGAATAATCTGGAGGAGCTCTTCCATCTCCTGAACTTCCTCACCCCAGAGAGATTTAAGTAAGTGGTTCCCTAAGGGTAGTTGGCAGAGATGAGAGGTGGAGCAGATAAAATGAGCTGGTAGAGGATTAATCTGAGGTGGTAAGTCTGAGATCAGGGGCAAGGAACTTGCCGACCTGTTAATTTTCTTCTCTTCTGGCTCTTAGCAACTTGGAGGGCTTCCTGGAGGAGTTTGCTGACATATCCAAAGAGGACCAGATCAAGAAACTGCATGATTTGCTGGGGCCACACATGCTGCGGAGACTCAAGGCAGATGTCTTTAAGAACATGCCAGCCAAGACAGAGCTCATCGTTCGGGTGGAGCTAAGCCCCATGCAGAAGTAAGATGCAAGACGAGCTGCCTGGAGTAGGGCTTGGGGATTGATGGGAGCGTTCCAAGTGCAATATCATAATTGCTTCCTTTATTTATGTTTCTTTTACACCCCTTTCCTGGCCTTTAGGAAATACTACAAATACATCCTGACTCGAAATTTTGAGGCCTTGAATTCACGAGGTGGTGGGAACCAGGTGTCGCTGCTTAATATCATGATGGATCTTAAGAAGTGCTGCAACCATCCATACCTTTTTCCCGTGGCTGCTATGGTAGATACACAGAGCAGGGAGCTGATCGAACGCCCATTCTCAGAAAACATGGGTGGGGAGTAGTGGGGAGGTGGGTATTGAGCCACAGGGGTGGAGCTGGGCTGGAAGGCCACGGACTGGGTGTCTGAGAACAGGAGGAATTGGGAACATGTGGAAGCTGGATCCGGGCATCTGGCCTTCTAGGTGTGGCAAGAATATGGGGGCATGTTTCCAACTGACCCCCTCCTCCTCCTCTCTCCTCCCTTTTCAGGAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTCATCTTCTCGCAGGTGACCTGTGCCCTTAGCTGTCTTTACATCTGCTTCCTCTTCCCTCTCCTCATCCTCCAGACTTTAATTTCTTACGGTCTTCCTGTGGCTGCTCTGGTGTGACAAATGAGGAGATTCCTCCTGTAAGAGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGTCAGGATGGTCTCCATCACCTGACCTCAGGTGATCTGCCCGCCTCGGTCTCCCAAAGTGCTGGGATTACTGTATAGCAAGTTCATTCTTGGCCTCTGATGCCTGTTCTTAAGGTTGCTGGAAGTTGAGGTCCAGCTCTAGTTCCTTTTCAGCTGCATGAGGGAAGGGGGAGGGTGAGCCATCTGCCTCCTTAGGGACTGGTATTATTTCTTCATCTTATTGGCAGGTGAGGGTGAAGGGCACAGACCCTTTGGAAATGTGATGAAAGCTCTGGGTCTACTCACCAGAAAACTGCACATACAATGACACAATTTTGTACGGATTTTCAGGGGGTTCCTGGATTTCCCTGAAACCTTTTCATGGGTCTCAGAGAACCTCTGCCTTAGGAGAAACAATCTTAAATCAAGAGAGTGTGACAAGAGGGCCAGACGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAAGATCACTTGAGGTCAGGAGTTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTTAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCGGTAGGATCACTTGAACCCAGGAGTGGAGGTTGCAGTGAGCAGAGATGGCACCACTGCACTCCAGCTAGGGCAACAGAATGAGACTCCATCTCAAAAAAAAATAAAAATAAATAAAAATAAGAAAAGAGAGTGTGACAAGAAGGTGGAATAATGAGGAGCTTAAGACAGGGCAGGGGTTCAGGTGTAAAGATTAGGGTTGAGTTTGTGTAAAGGAGTAGTTAGAATAAGCAAGCATCCCACCACCTCATTATTGCAGACTCCATCCTTTTCTCTTGCTCTAGATGACCAAAATGTTAGACTTGCTTGAGGACTTCTTAGACTATGAAGGCTACAAGTATGAGCGCATCGATGGTGGTATCACGGGTGCCCTGAGGCAGGAGGCCATCGATCGGTTTAATGGTGAGGGAGATACACTGGTCCCTGGTG 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CTACTGATGGAACTTCCCAGAGATTCAGTAACCTCTGTGAACAGTAGCTCTTCCTTCAGCATCCAGTCTTGCCCCAAGAGTGGCTAAGAATTTTGGCCTGAAAGGGCAGGAGCCACTAGAGATAGCCCACTGGTGGCTCTGTCACCAGCTGGCCCTTCCCCATGGTGCTGCTGGATATTGTCTTAAGGAATGAGGGGGAGGGGCTGAAGACTAGATGTGAGAACTTTTGTAAACTCAGGCCATAGTAGAGGGAATTGTAATCCAACTTGGTATCCATGCCAGGGAGGAAGAGACTAAGACTGGAGGAGCCGCCGACTATTTCCTTGAGCTTTCTGACTTCTTGTCTCTATAGCCTACCGTGAAATATGAGACTCAGCCACGGTTTATCACAGCCACTGGAGGCACCCTGCACATGTATCAGTTGGAAGGGCTGAACTGGCTACGCTTCTCCTGGGCCCAGGGCACTGACACCATTCTAGCTGATGAGATGGGGCTAGGCAAGACCATACAAACCATCGTCTTCCTCTACTCACTCTACAAGGAGGTGCTGGATTCTAGGACCTTGAAGGGGACCGCCTGGACTGGGGAAGTGGGGAGGGGGAAGATAAAGGGGTGTAGCTGGCAGAGGACTAGGGTATACGGCCTCTAGCCTAGACTTATGCTGCCCCCATTCTTGACTCCCAGGGCCACACAAAAGGTCCCTTCCTGGTGAGTGCCCCACTCTCTACCATCATTAACTGGGAGCGGGAGTTCCAGATGTGGGCACCCAAATTCTATGTGGTGACATACACGGGTGACAAGGACAGCCGGGCCATCATTCGTGAGAATGAATTCTCCTTTGAGGACAATGCCATCAAAGGGGGCAAGAAAGCTTTTAAGATGAAGGTAAGACCCTCTACCTCATATCCTCTGAGACCCTCAAAGCTGTCACTTCTTTTTCTCAGCCAGGAATTCAGTTTCTCTATTCCCCTCCTCACCTTTCTCCTCTTCCTCCACCTGTCCTCCTGTCTCTGCACTACCATCCTAGAGATATGGCAGGTACTCCCAGGGGCATACATGGATCTGTCGGTACTGGAAATGTGGGCAGAGGTTTAGGAGCCATGGTCTGTAATCCCTGCTTGGAGAACAGAGTAATGGCTCCTGTTGGGAGCCACAGTCAGGACAAGGTGTCTGGTTCTGGAGGTGTAGGTGCATGGTTGTCAGGTGGCAGCTGAATGGGCAATAATTATGTTGGCAGAGGGAGGCACAGGTGAAGTTCCATGTTCTCCTGACATCGTATGAGCTGATCACCATTGATCAGGCAGCACTTGGTTCCATCCGCTGGGCCTGTCTTGTGGTAGATGAGGCCCATCGACTCAAGAACAACCAGTCCAAGGTGAGTGAGGTTTCCAGACCTAAAAAACTTGAAGTTGTGGACTTCCCACTTGCCTTGGTCCTAAAAAACAACAAAAATTCTGGGGATTTTCTGTAGTCTGGGAGGACGTCCAGGTTGGAAGAGGGAGAGGGCCAGAGATTTGGGGCCTCTGATCCTGAGTGAAATGGGAGCTGGGGCAGGGAAAGGCTGATGCTGTGGGTCGGTCACTTGTCACTAATAAGCCCATTTTCCTGCCTTGCCTTGCCCCATCTTTTAGTTTTTCAGGGTTCTCAATGGTTACAAGATAGATCATAAGTTGCTGCTGACAGGAACCCCATTGCAGAATAATCTGGAGGAGCTCTTCCATCTCCTGAACTTCCTCACCCCAGAGAGATTTAAGTAAGTGGTTCCCTAAGGGTAGTTGGCAGAGATGAGAGGTGGAGCAGATAAAATGAGCTGGTAGAGGATTAATCTGAGGTGGTAAGTCTGAGATCAGGGGCAAGGAACTTGCCGACCTGTTAATTTTCTTCTCTTCTGGCTCTTAGCAACTTGGAGGGCTTCCTGGAGGAGTTTGCTGACATATCCAAAGAGGACCAGATCAAGAAACTGCATGATTTGCTGGGGCCACACATGCTGCGGAGACTCAAGGCAGATGTCTTTAAGAACATGCCAGCCAAGACAGAGCTCATCGTTCAGGTGGAGCTAAGCCCCATGCAGAAGTAAGATGCAAGACGAGCTGCCTGGAGTAGGGCTTGGGGATTGATGGGAGCGTTCCAAGTGCAATATCATAATTGCTTCCTTTATTTATGTTTCTTTTACACCCCTTTCCTGGCCTTTAGGAAATACTACAAATACATCCTGACTCGAAATTTTGAGGCCTTGAATTCACGAGGTGGTGGGAACCAGGTGTCGCTGCTTAATATCATGATGGATCTTAAGAAGTGCTGCAACCATCCATACCTTTTTCCCGTGGCTGCTATGGTAGATACACAGAGCAGGGAGCTGATCGAACGCCCATTCTCAGAAAACATGGGTGGGGAGTAGTGGGGAGGTGGGTATTGAGCCACAGGGGTGGAGCTGGGCTGGAAGGCCACGGACTGGGTGTCTGAGAACAGGAGGAATTGGGAACATGTGGAAGCTGGATCCGGGCATCTGGCCTTCTAGGTGTGGCAAGAATATGGGGGCATGTTTCCAACTGACCCCCTCCTCCTCCTCTCTCCTCCCTTTTCAGGAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTCATCTTCTCGCAGGTGACCTGTGCCCTTAGCTGTCTTTACATCTGCTTCCTCTTCCCTCTCCTCATCCTCCAGACTTTAATTTCTTACGGTCTTCCTGTGGCTGCTCTGGTGTGACAAATGAGGAGATTCCTCCTGTAAGAGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGTCAGGATGGTCTCCATCACCTGACCTCAGGTGATCTGCCCGCCTCGGTCTCCCAAAGTGCTGGGATTACTGTATAGCAAGTTCATTCTTGGCCTCTGATGCCTGTTCTTAAGGTTGCTGGAAGTTGAGGTCCAGCTCTAGTTCCTTTTCAGCTGCATGAGGGAAGGGGGAGGGTGAGCCATCTGCCTCCTTAGGGACTGGTATTATTTCTTCATCTTATTGGCAGGTGAGGGTGAAGGGCACAGACCCTTTGGAAATGTGATGAAAGCTCTGGGTCTACTCACCAGAAAACTGCACATACAATGACACAATTTTGTACGGATTTTCAGGGGGTTCCTGGATTTCCCTGAAACCTTTTCATGGGTCTCAGAGAACCTCTGCCTTAGGAGAAACAATCTTAAATCAAGAGAGTGTGACAAGAGGGCCAGACGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAAGATCACTTGAGGTCAGGAGTTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTTAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCGGTAGGATCACTTGAACCCAGGAGTGGAGGTTGCAGTGAGCAGAGATGGCACCACTGCACTCCAGCTAGGGCAACAGAATGAGACTCCATCTCAAAAAAAAATAAAAATAAATAAAAATAAGAAAAGAGAGTGTGACAAGAAGGTGGAATAATGAGGAGCTTAAGACAGGGCAGGGGTTCAGGTGTAAAGATTAGGGTTGAGTTTGTGTAAAGGAGTAGTTAGAATAAGCAAGCATCCCACCACCTCATTATTGCAGACTCCATCCTTTTCTCTTGCTCTAGATGACCAAAATGTTAGACTTGCTTGAGGACTTCTTAGACTATGAAGGCTACAAGTATGAGCGCATCGATGGTGGTATCACGGGTGCCCTGAGGCAGGAGGCCATCGATCGGTTTAATGGTGAGGGAGATACACTGGTCCCTGGTG 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Task1_train_23638 | This sequence variant lies in CHD3 (chromodomain helicase DNA binding protein 3) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Snijders Blok-Campeau syndrome | TATGGTAGATACACAGAGCAGGGAGCTGATCGAACGCCCATTCTCAGAAAACATGGGTGGGGAGTAGTGGGGAGGTGGGTATTGAGCCACAGGGGTGGAGCTGGGCTGGAAGGCCACGGACTGGGTGTCTGAGAACAGGAGGAATTGGGAACATGTGGAAGCTGGATCCGGGCATCTGGCCTTCTAGGTGTGGCAAGAATATGGGGGCATGTTTCCAACTGACCCCCTCCTCCTCCTCTCTCCTCCCTTTTCAGGAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTCATCTTCTCGCAGGTGACCTGTGCCCTTAGCTGTCTTTACATCTGCTTCCTCTTCCCTCTCCTCATCCTCCAGACTTTAATTTCTTACGGTCTTCCTGTGGCTGCTCTGGTGTGACAAATGAGGAGATTCCTCCTGTAAGAGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGTCAGGATGGTCTCCATCACCTGACCTCAGGTGATCTGCCCGCCTCGGTCTCCCAAAGTGCTGGGATTACTGTATAGCAAGTTCATTCTTGGCCTCTGATGCCTGTTCTTAAGGTTGCTGGAAGTTGAGGTCCAGCTCTAGTTCCTTTTCAGCTGCATGAGGGAAGGGGGAGGGTGAGCCATCTGCCTCCTTAGGGACTGGTATTATTTCTTCATCTTATTGGCAGGTGAGGGTGAAGGGCACAGACCCTTTGGAAATGTGATGAAAGCTCTGGGTCTACTCACCAGAAAACTGCACATACAATGACACAATTTTGTACGGATTTTCAGGGGGTTCCTGGATTTCCCTGAAACCTTTTCATGGGTCTCAGAGAACCTCTGCCTTAGGAGAAACAATCTTAAATCAAGAGAGTGTGACAAGAGGGCCAGACGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAAGATCACTTGAGGTCAGGAGTTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTTAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCGGTAGGATCACTTGAACCCAGGAGTGGAGGTTGCAGTGAGCAGAGATGGCACCACTGCACTCCAGCTAGGGCAACAGAATGAGACTCCATCTCAAAAAAAAATAAAAATAAATAAAAATAAGAAAAGAGAGTGTGACAAGAAGGTGGAATAATGAGGAGCTTAAGACAGGGCAGGGGTTCAGGTGTAAAGATTAGGGTTGAGTTTGTGTAAAGGAGTAGTTAGAATAAGCAAGCATCCCACCACCTCATTATTGCAGACTCCATCCTTTTCTCTTGCTCTAGATGACCAAAATGTTAGACTTGCTTGAGGACTTCTTAGACTATGAAGGCTACAAGTATGAGCGCATCGATGGTGGTATCACGGGTGCCCTGAGGCAGGAGGCCATCGATCGGTTTAATGGTGAGGGAGATACACTGGTCCCTGGTGGGTGTGGGAGGCCTGAGAAACCTGTGATAGGTCCCTGGGATGGGAGGGGGACTGGCTTGGGGGACATTGGAAACTTAGGCTTTGAGTTGGGGGCATGGTTGTTTGTCATCAGAGAACATCTAGGAGCAGGTGGACAGAACTACCGGGTACAAGAAAAACCTGATCCAACTCTCACCTCCTAGCTCCTGGGGCCCAACAATTCTGCTTCCTCCTGTCCACCCGAGCTGGGGGCCTGGGCATCAATCTGGCCACTGCTGACACTGTCATCATCTTTGATTCTGACTGGAACCCCCATAATGACATCCAGGTGGGAACTCGCATCCTAGAACCCCTGCACCATTTAGCAAGGAGATGTGGGTTCATGGAGGAGGGTGTCATGTTCCGGGGTCAGAAATAAATCTCTTCTGGGAGGAGAGAAGGCCCTTCTTCAGCAGCCTTCTTTCCTGAGGCAGCTCTATGGGCAGCTTCTCCCCGGCCACTCCCCTGACCCACCCGCCACTTTCTCTTGCCCCTGCAGGCCTTTAGCCGGGCTCATCGGATTGGCCAGGCCAACAAAGTGATGATTTACCGGTTTGTGACTCGCGCGTCAGTGGAAGAGCGAATCACACAAGTGGCCAAGAGAAAGATGATGCTGACACACCTGGTTGTGCGGCCTGGGCTGGGCTCCAAGGCAGGCTCCATGTCCAAGCAGGAGCTTGACGACATTCTCAAATTTGGCACTGAAGAGCTATTCAAGGATGAAAACGAGGGTGAGAACCTTTTCTGCAGCTCTGTGAAAGCAGGCCCCTGCTCTCTCAGGAGTACTTATCAGCCCCCTGGGGAGAGAAAAACAACTCTTCTCTGCAGCCTTTGAAGGAAGGAGAGCCTTCTTTTAGTAGCCCTTGGAGGAAGGTTGGCCTCTTTCTTTGCCTGTAGGGTTAAAACAAACAAAACAAAAACCTTTCAACATTGGCTCCCGGGGAAAAAGCCTTCTCTAGGGCTCCTGTGAAAAGGACGCAGAGTAGAAGCTTTCCCATCAGCCTTTCTAAACTTTGGAACCCAAAGTTCCCGTTTGTTTTCCCTCTCACCAGGGGAGAACAAGGAGGAGGACAGCAGTGTGATTCATTATGACAATGAGGCCATCGCTCGGCTGTTGGACCGGAACCAGGATGCAACTGAGGACACTGACGTGCAGAACATGAATGAGTATCTCAGCTCCTTCAAGGTGGCACAGTACGTCGTGCGGGAAGAAGACAAGGTGAGAGGCTTTGGGGGCCAGACATTATCTATCCCAGGCCATCTCCAAAAGGCAGTATCCTTTACTCAGCCTTGAAGTAGGAGGGTCTGTCCCCCTTAAAACAGTAGTGGACCTCAAACAACTTCTTCGTCTAATAGGTGAGACTGGACTTCAGAGAGAAACGTAGGCACAGACAGTACTGGTAAACACAGAAGGGTACCTTCTGAGACAGTGCAGGAGAAACACTGTCAGAGGGATTAGAGGAGAGATTTAGAAAACATGAGGAGAGCACATTGCAGGTAAGAGATGGCATGGAACATGCGCAATGTCCAGAAAATGTATGCAGAGCCACGAAGCTGCAGGAGTGGGGAGACCGGATTGGGCTGACGCAGCAGAGTAGGGATTTCCTTGCAGTGGAAGGATTAGCAAAGAAGGAGACCCCCAGTGTTCATTCATTCTGTTGCCCTTCAGATTGAGGAAATTGAGCGAGAGATCATCAAGCAGGAGGAGAATGTGGACCCTGACTACTGGGAGAAGCTGCTGAGGCATCACTATGAGCAACAGCAGGAAGACCTAGCCCGGAATCTAGGCAAGGGCAAGCGGGTTCGCAAGCAAGTTAACTACAATGATGCTGCTCAGGAAGACCAAGGTGAGGACTGCCCCAGATGCAGGCAGTAAAGGGGGGAAGTGATGATGAGTAGGGACTTGAAGGCTGGAGCTATTTAGAGGGAAAGAGAGAAGCCTAGAAGTCAGAGCCTTCCTCTGCTAAAAGGGAAAGACATAAGGTAGAGTCATTAGGAACTACCCAGAGGCCAGGTGGGTTTGCAGGAGATTTAAACTCTTCGGTGGTTGCACAGGCATCCTGTGGACACCCAGGGCCATTGCTTAGAGTAGGTTTTGCAGGAGAAGCAGAGGGGCCCAGAGACTGAAGGTGGGCGGTGAATGGAGATGGTGTAGGATATGCGGCTCCCAAGTCAGACTTTGGGCAGTGATCTGGTGTTCCCAGAAGGACCAAGGCCAGAATAAAGGTAGACAAGTCTCGGCAGGGAGGAATCCAGCCAGAAAGGGCCTCAGCATGGGCATATCCCGAGAGCCCTCCCTGACCACTGGGCCCT 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TATGGTAGATACACAGAGCAGGGAGCTGATCGAACGCCCATTCTCAGAAAACATGGGTGGGGAGTAGTGGGGAGGTGGGTATTGAGCCACAGGGGTGGAGCTGGGCTGGAAGGCCACGGACTGGGTGTCTGAGAACAGGAGGAATTGGGAACATGTGGAAGCTGGATCCGGGCATCTGGCCTTCTAGGTGTGGCAAGAATATGGGGGCATGTTTCCAACTGACCCCCTCCTCCTCCTCTCTCCTCCCTTTTCAGGAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTCATCTTCTCGCAGGTGACCTGTGCCCTTAGCTGTCTTTACATCTGCTTCCTCTTCCCTCTCCTCATCCTCCAGACTTTAATTTCTTACGGTCTTCCTGTGGCTGCTCTGGTGTGACAAATGAGGAGATTCCTCCTGTAAGAGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGTCAGGATGGTCTCCATCACCTGACCTCAGGTGATCTGCCCGCCTCGGTCTCCCAAAGTGCTGGGATTACTGTATAGCAAGTTCATTCTTGGCCTCTGATGCCTGTTCTTAAGGTTGCTGGAAGTTGAGGTCCAGCTCTAGTTCCTTTTCAGCTGCATGAGGGAAGGGGGAGGGTGAGCCATCTGCCTCCTTAGGGACTGGTATTATTTCTTCATCTTATTGGCAGGTGAGGGTGAAGGGCACAGACCCTTTGGAAATGTGATGAAAGCTCTGGGTCTACTCACCAGAAAACTGCACATACAATGACACAATTTTGTACGGATTTTCAGGGGGTTCCTGGATTTCCCTGAAACCTTTTCATGGGTCTCAGAGAACCTCTGCCTTAGGAGAAACAATCTTAAATCAAGAGAGTGTGACAAGAGGGCCAGACGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAAGATCACTTGAGGTCAGGAGTTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTTAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCGGTAGGATCACTTGAACCCAGGAGTGGAGGTTGCAGTGAGCAGAGATGGCACCACTGCACTCCAGCTAGGGCAACAGAATGAGACTCCATCTCAAAAAAAAATAAAAATAAATAAAAATAAGAAAAGAGAGTGTGACAAGAAGGTGGAATAATGAGGAGCTTAAGACAGGGCAGGGGTTCAGGTGTAAAGATTAGGGTTGAGTTTGTGTAAAGGAGTAGTTAGAATAAGCAAGCATCCCACCACCTCATTATTGCAGACTCCATCCTTTTCTCTTGCTCTAGATGACCAAAATGTTAGACTTGCTTGAGGACTTCTTAGACTATGAAGGCTACAAGTATGAGCGCATCGATGGTGGTATCACGGGTGCCCTGAGGCAGGAGGCCATCGATCGGTTTAATGGTGAGGGAGATACACTGGTCCCTGGTGGGTGTGGGAGGCCTGAGAAACCTGTGATAGGTCCCTGGGATGGGAGGGGGACTGGCTTGGGGGACATTGGAAACTTAGGCTTTGAGTTGGGGGCATGGTTGTTTGTCATCAGAGAACATCTAGGAGCAGGTGGACAGAACTACCGGGTACAAGAAAAACCTGATCCAACTCTCACCTCCTAGCTCCTGGGGCCCAACAATTCTGCTTCCTCCTGTCCACCCGAGCTGGGGGCCTGGGCATCAATCTGGCCACTGCTGACACTGTCATCATCTTTGATTCTGACCGGAACCCCCATAATGACATCCAGGTGGGAACTCGCATCCTAGAACCCCTGCACCATTTAGCAAGGAGATGTGGGTTCATGGAGGAGGGTGTCATGTTCCGGGGTCAGAAATAAATCTCTTCTGGGAGGAGAGAAGGCCCTTCTTCAGCAGCCTTCTTTCCTGAGGCAGCTCTATGGGCAGCTTCTCCCCGGCCACTCCCCTGACCCACCCGCCACTTTCTCTTGCCCCTGCAGGCCTTTAGCCGGGCTCATCGGATTGGCCAGGCCAACAAAGTGATGATTTACCGGTTTGTGACTCGCGCGTCAGTGGAAGAGCGAATCACACAAGTGGCCAAGAGAAAGATGATGCTGACACACCTGGTTGTGCGGCCTGGGCTGGGCTCCAAGGCAGGCTCCATGTCCAAGCAGGAGCTTGACGACATTCTCAAATTTGGCACTGAAGAGCTATTCAAGGATGAAAACGAGGGTGAGAACCTTTTCTGCAGCTCTGTGAAAGCAGGCCCCTGCTCTCTCAGGAGTACTTATCAGCCCCCTGGGGAGAGAAAAACAACTCTTCTCTGCAGCCTTTGAAGGAAGGAGAGCCTTCTTTTAGTAGCCCTTGGAGGAAGGTTGGCCTCTTTCTTTGCCTGTAGGGTTAAAACAAACAAAACAAAAACCTTTCAACATTGGCTCCCGGGGAAAAAGCCTTCTCTAGGGCTCCTGTGAAAAGGACGCAGAGTAGAAGCTTTCCCATCAGCCTTTCTAAACTTTGGAACCCAAAGTTCCCGTTTGTTTTCCCTCTCACCAGGGGAGAACAAGGAGGAGGACAGCAGTGTGATTCATTATGACAATGAGGCCATCGCTCGGCTGTTGGACCGGAACCAGGATGCAACTGAGGACACTGACGTGCAGAACATGAATGAGTATCTCAGCTCCTTCAAGGTGGCACAGTACGTCGTGCGGGAAGAAGACAAGGTGAGAGGCTTTGGGGGCCAGACATTATCTATCCCAGGCCATCTCCAAAAGGCAGTATCCTTTACTCAGCCTTGAAGTAGGAGGGTCTGTCCCCCTTAAAACAGTAGTGGACCTCAAACAACTTCTTCGTCTAATAGGTGAGACTGGACTTCAGAGAGAAACGTAGGCACAGACAGTACTGGTAAACACAGAAGGGTACCTTCTGAGACAGTGCAGGAGAAACACTGTCAGAGGGATTAGAGGAGAGATTTAGAAAACATGAGGAGAGCACATTGCAGGTAAGAGATGGCATGGAACATGCGCAATGTCCAGAAAATGTATGCAGAGCCACGAAGCTGCAGGAGTGGGGAGACCGGATTGGGCTGACGCAGCAGAGTAGGGATTTCCTTGCAGTGGAAGGATTAGCAAAGAAGGAGACCCCCAGTGTTCATTCATTCTGTTGCCCTTCAGATTGAGGAAATTGAGCGAGAGATCATCAAGCAGGAGGAGAATGTGGACCCTGACTACTGGGAGAAGCTGCTGAGGCATCACTATGAGCAACAGCAGGAAGACCTAGCCCGGAATCTAGGCAAGGGCAAGCGGGTTCGCAAGCAAGTTAACTACAATGATGCTGCTCAGGAAGACCAAGGTGAGGACTGCCCCAGATGCAGGCAGTAAAGGGGGGAAGTGATGATGAGTAGGGACTTGAAGGCTGGAGCTATTTAGAGGGAAAGAGAGAAGCCTAGAAGTCAGAGCCTTCCTCTGCTAAAAGGGAAAGACATAAGGTAGAGTCATTAGGAACTACCCAGAGGCCAGGTGGGTTTGCAGGAGATTTAAACTCTTCGGTGGTTGCACAGGCATCCTGTGGACACCCAGGGCCATTGCTTAGAGTAGGTTTTGCAGGAGAAGCAGAGGGGCCCAGAGACTGAAGGTGGGCGGTGAATGGAGATGGTGTAGGATATGCGGCTCCCAAGTCAGACTTTGGGCAGTGATCTGGTGTTCCCAGAAGGACCAAGGCCAGAATAAAGGTAGACAAGTCTCGGCAGGGAGGAATCCAGCCAGAAAGGGCCTCAGCATGGGCATATCCCGAGAGCCCTCCCTGACCACTGGGCCCT 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Task1_train_23639 | Gene CHD3 (chromodomain helicase DNA binding protein 3) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Snijders Blok-Campeau syndrome | TCCCTTTTCAGGAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTCATCTTCTCGCAGGTGACCTGTGCCCTTAGCTGTCTTTACATCTGCTTCCTCTTCCCTCTCCTCATCCTCCAGACTTTAATTTCTTACGGTCTTCCTGTGGCTGCTCTGGTGTGACAAATGAGGAGATTCCTCCTGTAAGAGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGTCAGGATGGTCTCCATCACCTGACCTCAGGTGATCTGCCCGCCTCGGTCTCCCAAAGTGCTGGGATTACTGTATAGCAAGTTCATTCTTGGCCTCTGATGCCTGTTCTTAAGGTTGCTGGAAGTTGAGGTCCAGCTCTAGTTCCTTTTCAGCTGCATGAGGGAAGGGGGAGGGTGAGCCATCTGCCTCCTTAGGGACTGGTATTATTTCTTCATCTTATTGGCAGGTGAGGGTGAAGGGCACAGACCCTTTGGAAATGTGATGAAAGCTCTGGGTCTACTCACCAGAAAACTGCACATACAATGACACAATTTTGTACGGATTTTCAGGGGGTTCCTGGATTTCCCTGAAACCTTTTCATGGGTCTCAGAGAACCTCTGCCTTAGGAGAAACAATCTTAAATCAAGAGAGTGTGACAAGAGGGCCAGACGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAAGATCACTTGAGGTCAGGAGTTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTTAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCGGTAGGATCACTTGAACCCAGGAGTGGAGGTTGCAGTGAGCAGAGATGGCACCACTGCACTCCAGCTAGGGCAACAGAATGAGACTCCATCTCAAAAAAAAATAAAAATAAATAAAAATAAGAAAAGAGAGTGTGACAAGAAGGTGGAATAATGAGGAGCTTAAGACAGGGCAGGGGTTCAGGTGTAAAGATTAGGGTTGAGTTTGTGTAAAGGAGTAGTTAGAATAAGCAAGCATCCCACCACCTCATTATTGCAGACTCCATCCTTTTCTCTTGCTCTAGATGACCAAAATGTTAGACTTGCTTGAGGACTTCTTAGACTATGAAGGCTACAAGTATGAGCGCATCGATGGTGGTATCACGGGTGCCCTGAGGCAGGAGGCCATCGATCGGTTTAATGGTGAGGGAGATACACTGGTCCCTGGTGGGTGTGGGAGGCCTGAGAAACCTGTGATAGGTCCCTGGGATGGGAGGGGGACTGGCTTGGGGGACATTGGAAACTTAGGCTTTGAGTTGGGGGCATGGTTGTTTGTCATCAGAGAACATCTAGGAGCAGGTGGACAGAACTACCGGGTACAAGAAAAACCTGATCCAACTCTCACCTCCTAGCTCCTGGGGCCCAACAATTCTGCTTCCTCCTGTCCACCCGAGCTGGGGGCCTGGGCATCAATCTGGCCACTGCTGACACTGTCATCATCTTTGATTCTGACTGGAACCCCCATAATGACATCCAGGTGGGAACTCGCATCCTAGAACCCCTGCACCATTTAGCAAGGAGATGTGGGTTCATGGAGGAGGGTGTCATGTTCCGGGGTCAGAAATAAATCTCTTCTGGGAGGAGAGAAGGCCCTTCTTCAGCAGCCTTCTTTCCTGAGGCAGCTCTATGGGCAGCTTCTCCCCGGCCACTCCCCTGACCCACCCGCCACTTTCTCTTGCCCCTGCAGGCCTTTAGCCGGGCTCATCGGATTGGCCAGGCCAACAAAGTGATGATTTACCGGTTTGTGACTCGCGCGTCAGTGGAAGAGCGAATCACACAAGTGGCCAAGAGAAAGATGATGCTGACACACCTGGTTGTGCGGCCTGGGCTGGGCTCCAAGGCAGGCTCCATGTCCAAGCAGGAGCTTGACGACATTCTCAAATTTGGCACTGAAGAGCTATTCAAGGATGAAAACGAGGGTGAGAACCTTTTCTGCAGCTCTGTGAAAGCAGGCCCCTGCTCTCTCAGGAGTACTTATCAGCCCCCTGGGGAGAGAAAAACAACTCTTCTCTGCAGCCTTTGAAGGAAGGAGAGCCTTCTTTTAGTAGCCCTTGGAGGAAGGTTGGCCTCTTTCTTTGCCTGTAGGGTTAAAACAAACAAAACAAAAACCTTTCAACATTGGCTCCCGGGGAAAAAGCCTTCTCTAGGGCTCCTGTGAAAAGGACGCAGAGTAGAAGCTTTCCCATCAGCCTTTCTAAACTTTGGAACCCAAAGTTCCCGTTTGTTTTCCCTCTCACCAGGGGAGAACAAGGAGGAGGACAGCAGTGTGATTCATTATGACAATGAGGCCATCGCTCGGCTGTTGGACCGGAACCAGGATGCAACTGAGGACACTGACGTGCAGAACATGAATGAGTATCTCAGCTCCTTCAAGGTGGCACAGTACGTCGTGCGGGAAGAAGACAAGGTGAGAGGCTTTGGGGGCCAGACATTATCTATCCCAGGCCATCTCCAAAAGGCAGTATCCTTTACTCAGCCTTGAAGTAGGAGGGTCTGTCCCCCTTAAAACAGTAGTGGACCTCAAACAACTTCTTCGTCTAATAGGTGAGACTGGACTTCAGAGAGAAACGTAGGCACAGACAGTACTGGTAAACACAGAAGGGTACCTTCTGAGACAGTGCAGGAGAAACACTGTCAGAGGGATTAGAGGAGAGATTTAGAAAACATGAGGAGAGCACATTGCAGGTAAGAGATGGCATGGAACATGCGCAATGTCCAGAAAATGTATGCAGAGCCACGAAGCTGCAGGAGTGGGGAGACCGGATTGGGCTGACGCAGCAGAGTAGGGATTTCCTTGCAGTGGAAGGATTAGCAAAGAAGGAGACCCCCAGTGTTCATTCATTCTGTTGCCCTTCAGATTGAGGAAATTGAGCGAGAGATCATCAAGCAGGAGGAGAATGTGGACCCTGACTACTGGGAGAAGCTGCTGAGGCATCACTATGAGCAACAGCAGGAAGACCTAGCCCGGAATCTAGGCAAGGGCAAGCGGGTTCGCAAGCAAGTTAACTACAATGATGCTGCTCAGGAAGACCAAGGTGAGGACTGCCCCAGATGCAGGCAGTAAAGGGGGGAAGTGATGATGAGTAGGGACTTGAAGGCTGGAGCTATTTAGAGGGAAAGAGAGAAGCCTAGAAGTCAGAGCCTTCCTCTGCTAAAAGGGAAAGACATAAGGTAGAGTCATTAGGAACTACCCAGAGGCCAGGTGGGTTTGCAGGAGATTTAAACTCTTCGGTGGTTGCACAGGCATCCTGTGGACACCCAGGGCCATTGCTTAGAGTAGGTTTTGCAGGAGAAGCAGAGGGGCCCAGAGACTGAAGGTGGGCGGTGAATGGAGATGGTGTAGGATATGCGGCTCCCAAGTCAGACTTTGGGCAGTGATCTGGTGTTCCCAGAAGGACCAAGGCCAGAATAAAGGTAGACAAGTCTCGGCAGGGAGGAATCCAGCCAGAAAGGGCCTCAGCATGGGCATATCCCGAGAGCCCTCCCTGACCACTGGGCCCTTTCCACCCCCACAGACAACCAGTCAGAGTACTCGGTGGGTTCAGAGGAGGAGGATGAAGACTTCGATGAACGTCCTGAAGGTGGCATCTGTGTTCCTGACTCTACCTCACCTCTTCCCGTTTTATTTTCCAGTTTGCTTTAAGCCCACTGTTTTTATACAAGTAAAAAAGTCTTCGTGTGTGTGTGGAAAAACTCGATTGCAGATGAGCAGAAAGGAAGAAATATTCATAGTCTCTCTGCTAG 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TCCCTTTTCAGGAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTCATCTTCTCGCAGGTGACCTGTGCCCTTAGCTGTCTTTACATCTGCTTCCTCTTCCCTCTCCTCATCCTCCAGACTTTAATTTCTTACGGTCTTCCTGTGGCTGCTCTGGTGTGACAAATGAGGAGATTCCTCCTGTAAGAGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGTCAGGATGGTCTCCATCACCTGACCTCAGGTGATCTGCCCGCCTCGGTCTCCCAAAGTGCTGGGATTACTGTATAGCAAGTTCATTCTTGGCCTCTGATGCCTGTTCTTAAGGTTGCTGGAAGTTGAGGTCCAGCTCTAGTTCCTTTTCAGCTGCATGAGGGAAGGGGGAGGGTGAGCCATCTGCCTCCTTAGGGACTGGTATTATTTCTTCATCTTATTGGCAGGTGAGGGTGAAGGGCACAGACCCTTTGGAAATGTGATGAAAGCTCTGGGTCTACTCACCAGAAAACTGCACATACAATGACACAATTTTGTACGGATTTTCAGGGGGTTCCTGGATTTCCCTGAAACCTTTTCATGGGTCTCAGAGAACCTCTGCCTTAGGAGAAACAATCTTAAATCAAGAGAGTGTGACAAGAGGGCCAGACGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAAGATCACTTGAGGTCAGGAGTTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTTAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCGGTAGGATCACTTGAACCCAGGAGTGGAGGTTGCAGTGAGCAGAGATGGCACCACTGCACTCCAGCTAGGGCAACAGAATGAGACTCCATCTCAAAAAAAAATAAAAATAAATAAAAATAAGAAAAGAGAGTGTGACAAGAAGGTGGAATAATGAGGAGCTTAAGACAGGGCAGGGGTTCAGGTGTAAAGATTAGGGTTGAGTTTGTGTAAAGGAGTAGTTAGAATAAGCAAGCATCCCACCACCTCATTATTGCAGACTCCATCCTTTTCTCTTGCTCTAGATGACCAAAATGTTAGACTTGCTTGAGGACTTCTTAGACTATGAAGGCTACAAGTATGAGCGCATCGATGGTGGTATCACGGGTGCCCTGAGGCAGGAGGCCATCGATCGGTTTAATGGTGAGGGAGATACACTGGTCCCTGGTGGGTGTGGGAGGCCTGAGAAACCTGTGATAGGTCCCTGGGATGGGAGGGGGACTGGCTTGGGGGACATTGGAAACTTAGGCTTTGAGTTGGGGGCATGGTTGTTTGTCATCAGAGAACATCTAGGAGCAGGTGGACAGAACTACCGGGTACAAGAAAAACCTGATCCAACTCTCACCTCCTAGCTCCTGGGGCCCAACAATTCTGCTTCCTCCTGTCCACCCGAGCTGGGGGCCTGGGCATCAATCTGGCCACTGCTGACACTGTCATCATCTTTGATTCTGACTGGAACCCCCATAATGACATCCAGGTGGGAACTCGCATCCTAGAACCCCTGCACCATTTAGCAAGGAGATGTGGGTTCATGGAGGAGGGTGTCATGTTCCGGGGTCAGAAATAAATCTCTTCTGGGAGGAGAGAAGGCCCTTCTTCAGCAGCCTTCTTTCCTGAGGCAGCTCTATGGGCAGCTTCTCCCCGGCCACTCCCCTGACCCACCCGCCACTTTCTCTTGCCCCTGCAGGCCTTTAGCTGGGCTCATCGGATTGGCCAGGCCAACAAAGTGATGATTTACCGGTTTGTGACTCGCGCGTCAGTGGAAGAGCGAATCACACAAGTGGCCAAGAGAAAGATGATGCTGACACACCTGGTTGTGCGGCCTGGGCTGGGCTCCAAGGCAGGCTCCATGTCCAAGCAGGAGCTTGACGACATTCTCAAATTTGGCACTGAAGAGCTATTCAAGGATGAAAACGAGGGTGAGAACCTTTTCTGCAGCTCTGTGAAAGCAGGCCCCTGCTCTCTCAGGAGTACTTATCAGCCCCCTGGGGAGAGAAAAACAACTCTTCTCTGCAGCCTTTGAAGGAAGGAGAGCCTTCTTTTAGTAGCCCTTGGAGGAAGGTTGGCCTCTTTCTTTGCCTGTAGGGTTAAAACAAACAAAACAAAAACCTTTCAACATTGGCTCCCGGGGAAAAAGCCTTCTCTAGGGCTCCTGTGAAAAGGACGCAGAGTAGAAGCTTTCCCATCAGCCTTTCTAAACTTTGGAACCCAAAGTTCCCGTTTGTTTTCCCTCTCACCAGGGGAGAACAAGGAGGAGGACAGCAGTGTGATTCATTATGACAATGAGGCCATCGCTCGGCTGTTGGACCGGAACCAGGATGCAACTGAGGACACTGACGTGCAGAACATGAATGAGTATCTCAGCTCCTTCAAGGTGGCACAGTACGTCGTGCGGGAAGAAGACAAGGTGAGAGGCTTTGGGGGCCAGACATTATCTATCCCAGGCCATCTCCAAAAGGCAGTATCCTTTACTCAGCCTTGAAGTAGGAGGGTCTGTCCCCCTTAAAACAGTAGTGGACCTCAAACAACTTCTTCGTCTAATAGGTGAGACTGGACTTCAGAGAGAAACGTAGGCACAGACAGTACTGGTAAACACAGAAGGGTACCTTCTGAGACAGTGCAGGAGAAACACTGTCAGAGGGATTAGAGGAGAGATTTAGAAAACATGAGGAGAGCACATTGCAGGTAAGAGATGGCATGGAACATGCGCAATGTCCAGAAAATGTATGCAGAGCCACGAAGCTGCAGGAGTGGGGAGACCGGATTGGGCTGACGCAGCAGAGTAGGGATTTCCTTGCAGTGGAAGGATTAGCAAAGAAGGAGACCCCCAGTGTTCATTCATTCTGTTGCCCTTCAGATTGAGGAAATTGAGCGAGAGATCATCAAGCAGGAGGAGAATGTGGACCCTGACTACTGGGAGAAGCTGCTGAGGCATCACTATGAGCAACAGCAGGAAGACCTAGCCCGGAATCTAGGCAAGGGCAAGCGGGTTCGCAAGCAAGTTAACTACAATGATGCTGCTCAGGAAGACCAAGGTGAGGACTGCCCCAGATGCAGGCAGTAAAGGGGGGAAGTGATGATGAGTAGGGACTTGAAGGCTGGAGCTATTTAGAGGGAAAGAGAGAAGCCTAGAAGTCAGAGCCTTCCTCTGCTAAAAGGGAAAGACATAAGGTAGAGTCATTAGGAACTACCCAGAGGCCAGGTGGGTTTGCAGGAGATTTAAACTCTTCGGTGGTTGCACAGGCATCCTGTGGACACCCAGGGCCATTGCTTAGAGTAGGTTTTGCAGGAGAAGCAGAGGGGCCCAGAGACTGAAGGTGGGCGGTGAATGGAGATGGTGTAGGATATGCGGCTCCCAAGTCAGACTTTGGGCAGTGATCTGGTGTTCCCAGAAGGACCAAGGCCAGAATAAAGGTAGACAAGTCTCGGCAGGGAGGAATCCAGCCAGAAAGGGCCTCAGCATGGGCATATCCCGAGAGCCCTCCCTGACCACTGGGCCCTTTCCACCCCCACAGACAACCAGTCAGAGTACTCGGTGGGTTCAGAGGAGGAGGATGAAGACTTCGATGAACGTCCTGAAGGTGGCATCTGTGTTCCTGACTCTACCTCACCTCTTCCCGTTTTATTTTCCAGTTTGCTTTAAGCCCACTGTTTTTATACAAGTAAAAAAGTCTTCGTGTGTGTGTGGAAAAACTCGATTGCAGATGAGCAGAAAGGAAGAAATATTCATAGTCTCTCTGCTAG 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Task1_train_23640 | Located on Chromosome 17, this mutation impacts CHD3 (chromodomain helicase DNA binding protein 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Inborn genetic diseases | TCCCTTTTCAGGAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTCATCTTCTCGCAGGTGACCTGTGCCCTTAGCTGTCTTTACATCTGCTTCCTCTTCCCTCTCCTCATCCTCCAGACTTTAATTTCTTACGGTCTTCCTGTGGCTGCTCTGGTGTGACAAATGAGGAGATTCCTCCTGTAAGAGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGTCAGGATGGTCTCCATCACCTGACCTCAGGTGATCTGCCCGCCTCGGTCTCCCAAAGTGCTGGGATTACTGTATAGCAAGTTCATTCTTGGCCTCTGATGCCTGTTCTTAAGGTTGCTGGAAGTTGAGGTCCAGCTCTAGTTCCTTTTCAGCTGCATGAGGGAAGGGGGAGGGTGAGCCATCTGCCTCCTTAGGGACTGGTATTATTTCTTCATCTTATTGGCAGGTGAGGGTGAAGGGCACAGACCCTTTGGAAATGTGATGAAAGCTCTGGGTCTACTCACCAGAAAACTGCACATACAATGACACAATTTTGTACGGATTTTCAGGGGGTTCCTGGATTTCCCTGAAACCTTTTCATGGGTCTCAGAGAACCTCTGCCTTAGGAGAAACAATCTTAAATCAAGAGAGTGTGACAAGAGGGCCAGACGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAAGATCACTTGAGGTCAGGAGTTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTTAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCGGTAGGATCACTTGAACCCAGGAGTGGAGGTTGCAGTGAGCAGAGATGGCACCACTGCACTCCAGCTAGGGCAACAGAATGAGACTCCATCTCAAAAAAAAATAAAAATAAATAAAAATAAGAAAAGAGAGTGTGACAAGAAGGTGGAATAATGAGGAGCTTAAGACAGGGCAGGGGTTCAGGTGTAAAGATTAGGGTTGAGTTTGTGTAAAGGAGTAGTTAGAATAAGCAAGCATCCCACCACCTCATTATTGCAGACTCCATCCTTTTCTCTTGCTCTAGATGACCAAAATGTTAGACTTGCTTGAGGACTTCTTAGACTATGAAGGCTACAAGTATGAGCGCATCGATGGTGGTATCACGGGTGCCCTGAGGCAGGAGGCCATCGATCGGTTTAATGGTGAGGGAGATACACTGGTCCCTGGTGGGTGTGGGAGGCCTGAGAAACCTGTGATAGGTCCCTGGGATGGGAGGGGGACTGGCTTGGGGGACATTGGAAACTTAGGCTTTGAGTTGGGGGCATGGTTGTTTGTCATCAGAGAACATCTAGGAGCAGGTGGACAGAACTACCGGGTACAAGAAAAACCTGATCCAACTCTCACCTCCTAGCTCCTGGGGCCCAACAATTCTGCTTCCTCCTGTCCACCCGAGCTGGGGGCCTGGGCATCAATCTGGCCACTGCTGACACTGTCATCATCTTTGATTCTGACTGGAACCCCCATAATGACATCCAGGTGGGAACTCGCATCCTAGAACCCCTGCACCATTTAGCAAGGAGATGTGGGTTCATGGAGGAGGGTGTCATGTTCCGGGGTCAGAAATAAATCTCTTCTGGGAGGAGAGAAGGCCCTTCTTCAGCAGCCTTCTTTCCTGAGGCAGCTCTATGGGCAGCTTCTCCCCGGCCACTCCCCTGACCCACCCGCCACTTTCTCTTGCCCCTGCAGGCCTTTAGCCGGGCTCATCGGATTGGCCAGGCCAACAAAGTGATGATTTACCGGTTTGTGACTCGCGCGTCAGTGGAAGAGCGAATCACACAAGTGGCCAAGAGAAAGATGATGCTGACACACCTGGTTGTGCGGCCTGGGCTGGGCTCCAAGGCAGGCTCCATGTCCAAGCAGGAGCTTGACGACATTCTCAAATTTGGCACTGAAGAGCTATTCAAGGATGAAAACGAGGGTGAGAACCTTTTCTGCAGCTCTGTGAAAGCAGGCCCCTGCTCTCTCAGGAGTACTTATCAGCCCCCTGGGGAGAGAAAAACAACTCTTCTCTGCAGCCTTTGAAGGAAGGAGAGCCTTCTTTTAGTAGCCCTTGGAGGAAGGTTGGCCTCTTTCTTTGCCTGTAGGGTTAAAACAAACAAAACAAAAACCTTTCAACATTGGCTCCCGGGGAAAAAGCCTTCTCTAGGGCTCCTGTGAAAAGGACGCAGAGTAGAAGCTTTCCCATCAGCCTTTCTAAACTTTGGAACCCAAAGTTCCCGTTTGTTTTCCCTCTCACCAGGGGAGAACAAGGAGGAGGACAGCAGTGTGATTCATTATGACAATGAGGCCATCGCTCGGCTGTTGGACCGGAACCAGGATGCAACTGAGGACACTGACGTGCAGAACATGAATGAGTATCTCAGCTCCTTCAAGGTGGCACAGTACGTCGTGCGGGAAGAAGACAAGGTGAGAGGCTTTGGGGGCCAGACATTATCTATCCCAGGCCATCTCCAAAAGGCAGTATCCTTTACTCAGCCTTGAAGTAGGAGGGTCTGTCCCCCTTAAAACAGTAGTGGACCTCAAACAACTTCTTCGTCTAATAGGTGAGACTGGACTTCAGAGAGAAACGTAGGCACAGACAGTACTGGTAAACACAGAAGGGTACCTTCTGAGACAGTGCAGGAGAAACACTGTCAGAGGGATTAGAGGAGAGATTTAGAAAACATGAGGAGAGCACATTGCAGGTAAGAGATGGCATGGAACATGCGCAATGTCCAGAAAATGTATGCAGAGCCACGAAGCTGCAGGAGTGGGGAGACCGGATTGGGCTGACGCAGCAGAGTAGGGATTTCCTTGCAGTGGAAGGATTAGCAAAGAAGGAGACCCCCAGTGTTCATTCATTCTGTTGCCCTTCAGATTGAGGAAATTGAGCGAGAGATCATCAAGCAGGAGGAGAATGTGGACCCTGACTACTGGGAGAAGCTGCTGAGGCATCACTATGAGCAACAGCAGGAAGACCTAGCCCGGAATCTAGGCAAGGGCAAGCGGGTTCGCAAGCAAGTTAACTACAATGATGCTGCTCAGGAAGACCAAGGTGAGGACTGCCCCAGATGCAGGCAGTAAAGGGGGGAAGTGATGATGAGTAGGGACTTGAAGGCTGGAGCTATTTAGAGGGAAAGAGAGAAGCCTAGAAGTCAGAGCCTTCCTCTGCTAAAAGGGAAAGACATAAGGTAGAGTCATTAGGAACTACCCAGAGGCCAGGTGGGTTTGCAGGAGATTTAAACTCTTCGGTGGTTGCACAGGCATCCTGTGGACACCCAGGGCCATTGCTTAGAGTAGGTTTTGCAGGAGAAGCAGAGGGGCCCAGAGACTGAAGGTGGGCGGTGAATGGAGATGGTGTAGGATATGCGGCTCCCAAGTCAGACTTTGGGCAGTGATCTGGTGTTCCCAGAAGGACCAAGGCCAGAATAAAGGTAGACAAGTCTCGGCAGGGAGGAATCCAGCCAGAAAGGGCCTCAGCATGGGCATATCCCGAGAGCCCTCCCTGACCACTGGGCCCTTTCCACCCCCACAGACAACCAGTCAGAGTACTCGGTGGGTTCAGAGGAGGAGGATGAAGACTTCGATGAACGTCCTGAAGGTGGCATCTGTGTTCCTGACTCTACCTCACCTCTTCCCGTTTTATTTTCCAGTTTGCTTTAAGCCCACTGTTTTTATACAAGTAAAAAAGTCTTCGTGTGTGTGTGGAAAAACTCGATTGCAGATGAGCAGAAAGGAAGAAATATTCATAGTCTCTCTGCTAG 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TCCCTTTTCAGGAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTCATCTTCTCGCAGGTGACCTGTGCCCTTAGCTGTCTTTACATCTGCTTCCTCTTCCCTCTCCTCATCCTCCAGACTTTAATTTCTTACGGTCTTCCTGTGGCTGCTCTGGTGTGACAAATGAGGAGATTCCTCCTGTAAGAGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGTCAGGATGGTCTCCATCACCTGACCTCAGGTGATCTGCCCGCCTCGGTCTCCCAAAGTGCTGGGATTACTGTATAGCAAGTTCATTCTTGGCCTCTGATGCCTGTTCTTAAGGTTGCTGGAAGTTGAGGTCCAGCTCTAGTTCCTTTTCAGCTGCATGAGGGAAGGGGGAGGGTGAGCCATCTGCCTCCTTAGGGACTGGTATTATTTCTTCATCTTATTGGCAGGTGAGGGTGAAGGGCACAGACCCTTTGGAAATGTGATGAAAGCTCTGGGTCTACTCACCAGAAAACTGCACATACAATGACACAATTTTGTACGGATTTTCAGGGGGTTCCTGGATTTCCCTGAAACCTTTTCATGGGTCTCAGAGAACCTCTGCCTTAGGAGAAACAATCTTAAATCAAGAGAGTGTGACAAGAGGGCCAGACGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAAGATCACTTGAGGTCAGGAGTTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTTAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCGGTAGGATCACTTGAACCCAGGAGTGGAGGTTGCAGTGAGCAGAGATGGCACCACTGCACTCCAGCTAGGGCAACAGAATGAGACTCCATCTCAAAAAAAAATAAAAATAAATAAAAATAAGAAAAGAGAGTGTGACAAGAAGGTGGAATAATGAGGAGCTTAAGACAGGGCAGGGGTTCAGGTGTAAAGATTAGGGTTGAGTTTGTGTAAAGGAGTAGTTAGAATAAGCAAGCATCCCACCACCTCATTATTGCAGACTCCATCCTTTTCTCTTGCTCTAGATGACCAAAATGTTAGACTTGCTTGAGGACTTCTTAGACTATGAAGGCTACAAGTATGAGCGCATCGATGGTGGTATCACGGGTGCCCTGAGGCAGGAGGCCATCGATCGGTTTAATGGTGAGGGAGATACACTGGTCCCTGGTGGGTGTGGGAGGCCTGAGAAACCTGTGATAGGTCCCTGGGATGGGAGGGGGACTGGCTTGGGGGACATTGGAAACTTAGGCTTTGAGTTGGGGGCATGGTTGTTTGTCATCAGAGAACATCTAGGAGCAGGTGGACAGAACTACCGGGTACAAGAAAAACCTGATCCAACTCTCACCTCCTAGCTCCTGGGGCCCAACAATTCTGCTTCCTCCTGTCCACCCGAGCTGGGGGCCTGGGCATCAATCTGGCCACTGCTGACACTGTCATCATCTTTGATTCTGACTGGAACCCCCATAATGACATCCAGGTGGGAACTCGCATCCTAGAACCCCTGCACCATTTAGCAAGGAGATGTGGGTTCATGGAGGAGGGTGTCATGTTCCGGGGTCAGAAATAAATCTCTTCTGGGAGGAGAGAAGGCCCTTCTTCAGCAGCCTTCTTTCCTGAGGCAGCTCTATGGGCAGCTTCTCCCCGGCCACTCCCCTGACCCACCCGCCACTTTCTCTTGCCCCTGCAGGCCTTTAGCTGGGCTCATCGGATTGGCCAGGCCAACAAAGTGATGATTTACCGGTTTGTGACTCGCGCGTCAGTGGAAGAGCGAATCACACAAGTGGCCAAGAGAAAGATGATGCTGACACACCTGGTTGTGCGGCCTGGGCTGGGCTCCAAGGCAGGCTCCATGTCCAAGCAGGAGCTTGACGACATTCTCAAATTTGGCACTGAAGAGCTATTCAAGGATGAAAACGAGGGTGAGAACCTTTTCTGCAGCTCTGTGAAAGCAGGCCCCTGCTCTCTCAGGAGTACTTATCAGCCCCCTGGGGAGAGAAAAACAACTCTTCTCTGCAGCCTTTGAAGGAAGGAGAGCCTTCTTTTAGTAGCCCTTGGAGGAAGGTTGGCCTCTTTCTTTGCCTGTAGGGTTAAAACAAACAAAACAAAAACCTTTCAACATTGGCTCCCGGGGAAAAAGCCTTCTCTAGGGCTCCTGTGAAAAGGACGCAGAGTAGAAGCTTTCCCATCAGCCTTTCTAAACTTTGGAACCCAAAGTTCCCGTTTGTTTTCCCTCTCACCAGGGGAGAACAAGGAGGAGGACAGCAGTGTGATTCATTATGACAATGAGGCCATCGCTCGGCTGTTGGACCGGAACCAGGATGCAACTGAGGACACTGACGTGCAGAACATGAATGAGTATCTCAGCTCCTTCAAGGTGGCACAGTACGTCGTGCGGGAAGAAGACAAGGTGAGAGGCTTTGGGGGCCAGACATTATCTATCCCAGGCCATCTCCAAAAGGCAGTATCCTTTACTCAGCCTTGAAGTAGGAGGGTCTGTCCCCCTTAAAACAGTAGTGGACCTCAAACAACTTCTTCGTCTAATAGGTGAGACTGGACTTCAGAGAGAAACGTAGGCACAGACAGTACTGGTAAACACAGAAGGGTACCTTCTGAGACAGTGCAGGAGAAACACTGTCAGAGGGATTAGAGGAGAGATTTAGAAAACATGAGGAGAGCACATTGCAGGTAAGAGATGGCATGGAACATGCGCAATGTCCAGAAAATGTATGCAGAGCCACGAAGCTGCAGGAGTGGGGAGACCGGATTGGGCTGACGCAGCAGAGTAGGGATTTCCTTGCAGTGGAAGGATTAGCAAAGAAGGAGACCCCCAGTGTTCATTCATTCTGTTGCCCTTCAGATTGAGGAAATTGAGCGAGAGATCATCAAGCAGGAGGAGAATGTGGACCCTGACTACTGGGAGAAGCTGCTGAGGCATCACTATGAGCAACAGCAGGAAGACCTAGCCCGGAATCTAGGCAAGGGCAAGCGGGTTCGCAAGCAAGTTAACTACAATGATGCTGCTCAGGAAGACCAAGGTGAGGACTGCCCCAGATGCAGGCAGTAAAGGGGGGAAGTGATGATGAGTAGGGACTTGAAGGCTGGAGCTATTTAGAGGGAAAGAGAGAAGCCTAGAAGTCAGAGCCTTCCTCTGCTAAAAGGGAAAGACATAAGGTAGAGTCATTAGGAACTACCCAGAGGCCAGGTGGGTTTGCAGGAGATTTAAACTCTTCGGTGGTTGCACAGGCATCCTGTGGACACCCAGGGCCATTGCTTAGAGTAGGTTTTGCAGGAGAAGCAGAGGGGCCCAGAGACTGAAGGTGGGCGGTGAATGGAGATGGTGTAGGATATGCGGCTCCCAAGTCAGACTTTGGGCAGTGATCTGGTGTTCCCAGAAGGACCAAGGCCAGAATAAAGGTAGACAAGTCTCGGCAGGGAGGAATCCAGCCAGAAAGGGCCTCAGCATGGGCATATCCCGAGAGCCCTCCCTGACCACTGGGCCCTTTCCACCCCCACAGACAACCAGTCAGAGTACTCGGTGGGTTCAGAGGAGGAGGATGAAGACTTCGATGAACGTCCTGAAGGTGGCATCTGTGTTCCTGACTCTACCTCACCTCTTCCCGTTTTATTTTCCAGTTTGCTTTAAGCCCACTGTTTTTATACAAGTAAAAAAGTCTTCGTGTGTGTGTGGAAAAACTCGATTGCAGATGAGCAGAAAGGAAGAAATATTCATAGTCTCTCTGCTAG 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Task1_train_23641 | Given a variant located on Chromosome 17 and affecting CHD3 (chromodomain helicase DNA binding protein 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Snijders Blok-Campeau syndrome | GGTTGAGTTTGTGTAAAGGAGTAGTTAGAATAAGCAAGCATCCCACCACCTCATTATTGCAGACTCCATCCTTTTCTCTTGCTCTAGATGACCAAAATGTTAGACTTGCTTGAGGACTTCTTAGACTATGAAGGCTACAAGTATGAGCGCATCGATGGTGGTATCACGGGTGCCCTGAGGCAGGAGGCCATCGATCGGTTTAATGGTGAGGGAGATACACTGGTCCCTGGTGGGTGTGGGAGGCCTGAGAAACCTGTGATAGGTCCCTGGGATGGGAGGGGGACTGGCTTGGGGGACATTGGAAACTTAGGCTTTGAGTTGGGGGCATGGTTGTTTGTCATCAGAGAACATCTAGGAGCAGGTGGACAGAACTACCGGGTACAAGAAAAACCTGATCCAACTCTCACCTCCTAGCTCCTGGGGCCCAACAATTCTGCTTCCTCCTGTCCACCCGAGCTGGGGGCCTGGGCATCAATCTGGCCACTGCTGACACTGTCATCATCTTTGATTCTGACTGGAACCCCCATAATGACATCCAGGTGGGAACTCGCATCCTAGAACCCCTGCACCATTTAGCAAGGAGATGTGGGTTCATGGAGGAGGGTGTCATGTTCCGGGGTCAGAAATAAATCTCTTCTGGGAGGAGAGAAGGCCCTTCTTCAGCAGCCTTCTTTCCTGAGGCAGCTCTATGGGCAGCTTCTCCCCGGCCACTCCCCTGACCCACCCGCCACTTTCTCTTGCCCCTGCAGGCCTTTAGCCGGGCTCATCGGATTGGCCAGGCCAACAAAGTGATGATTTACCGGTTTGTGACTCGCGCGTCAGTGGAAGAGCGAATCACACAAGTGGCCAAGAGAAAGATGATGCTGACACACCTGGTTGTGCGGCCTGGGCTGGGCTCCAAGGCAGGCTCCATGTCCAAGCAGGAGCTTGACGACATTCTCAAATTTGGCACTGAAGAGCTATTCAAGGATGAAAACGAGGGTGAGAACCTTTTCTGCAGCTCTGTGAAAGCAGGCCCCTGCTCTCTCAGGAGTACTTATCAGCCCCCTGGGGAGAGAAAAACAACTCTTCTCTGCAGCCTTTGAAGGAAGGAGAGCCTTCTTTTAGTAGCCCTTGGAGGAAGGTTGGCCTCTTTCTTTGCCTGTAGGGTTAAAACAAACAAAACAAAAACCTTTCAACATTGGCTCCCGGGGAAAAAGCCTTCTCTAGGGCTCCTGTGAAAAGGACGCAGAGTAGAAGCTTTCCCATCAGCCTTTCTAAACTTTGGAACCCAAAGTTCCCGTTTGTTTTCCCTCTCACCAGGGGAGAACAAGGAGGAGGACAGCAGTGTGATTCATTATGACAATGAGGCCATCGCTCGGCTGTTGGACCGGAACCAGGATGCAACTGAGGACACTGACGTGCAGAACATGAATGAGTATCTCAGCTCCTTCAAGGTGGCACAGTACGTCGTGCGGGAAGAAGACAAGGTGAGAGGCTTTGGGGGCCAGACATTATCTATCCCAGGCCATCTCCAAAAGGCAGTATCCTTTACTCAGCCTTGAAGTAGGAGGGTCTGTCCCCCTTAAAACAGTAGTGGACCTCAAACAACTTCTTCGTCTAATAGGTGAGACTGGACTTCAGAGAGAAACGTAGGCACAGACAGTACTGGTAAACACAGAAGGGTACCTTCTGAGACAGTGCAGGAGAAACACTGTCAGAGGGATTAGAGGAGAGATTTAGAAAACATGAGGAGAGCACATTGCAGGTAAGAGATGGCATGGAACATGCGCAATGTCCAGAAAATGTATGCAGAGCCACGAAGCTGCAGGAGTGGGGAGACCGGATTGGGCTGACGCAGCAGAGTAGGGATTTCCTTGCAGTGGAAGGATTAGCAAAGAAGGAGACCCCCAGTGTTCATTCATTCTGTTGCCCTTCAGATTGAGGAAATTGAGCGAGAGATCATCAAGCAGGAGGAGAATGTGGACCCTGACTACTGGGAGAAGCTGCTGAGGCATCACTATGAGCAACAGCAGGAAGACCTAGCCCGGAATCTAGGCAAGGGCAAGCGGGTTCGCAAGCAAGTTAACTACAATGATGCTGCTCAGGAAGACCAAGGTGAGGACTGCCCCAGATGCAGGCAGTAAAGGGGGGAAGTGATGATGAGTAGGGACTTGAAGGCTGGAGCTATTTAGAGGGAAAGAGAGAAGCCTAGAAGTCAGAGCCTTCCTCTGCTAAAAGGGAAAGACATAAGGTAGAGTCATTAGGAACTACCCAGAGGCCAGGTGGGTTTGCAGGAGATTTAAACTCTTCGGTGGTTGCACAGGCATCCTGTGGACACCCAGGGCCATTGCTTAGAGTAGGTTTTGCAGGAGAAGCAGAGGGGCCCAGAGACTGAAGGTGGGCGGTGAATGGAGATGGTGTAGGATATGCGGCTCCCAAGTCAGACTTTGGGCAGTGATCTGGTGTTCCCAGAAGGACCAAGGCCAGAATAAAGGTAGACAAGTCTCGGCAGGGAGGAATCCAGCCAGAAAGGGCCTCAGCATGGGCATATCCCGAGAGCCCTCCCTGACCACTGGGCCCTTTCCACCCCCACAGACAACCAGTCAGAGTACTCGGTGGGTTCAGAGGAGGAGGATGAAGACTTCGATGAACGTCCTGAAGGTGGCATCTGTGTTCCTGACTCTACCTCACCTCTTCCCGTTTTATTTTCCAGTTTGCTTTAAGCCCACTGTTTTTATACAAGTAAAAAAGTCTTCGTGTGTGTGTGGAAAAACTCGATTGCAGATGAGCAGAAAGGAAGAAATATTCATAGTCTCTCTGCTAGTAAACTTCGGTGTGTGTGACCACATAGGCTAGATCCAGAAAGGCCATATCATTTTCCATTCCCACTGGTAATCTGGGCCTTTGTCAGATATCAGCTGTTAATTTTAAAATATGACTGGTTCTTTTAGACTTAGTGGGTTAGTAGTTCTGAAGTGCTTGGGAGAGAATTGGGAGCACCTCAAACGTGACAGGAATGTTCCTGTGTTGTGTATCTTGTGGGAATGGGGTGCTAAGGAGGACTGAGGCTTAGAGGAGGTGGTGGCTCAGCTAACTGATGTCATCCCCACCCTCAGGGCGTAGACAGTCAAAGAGGCAGCTCCGGAATGAGAAAGATAAGCCACTGCCTCCACTGCTGGCCCGAGTCGGGGGCAACATTGAGGTGAGAGCTGGGCCCAGTGTTCCTGAGTTCTCCAAGAGGGCATGAGGGCAGGAGGTTGGAAGTTGGTGCCTGGATCACTGAAGGTAGAAAGGACAAGACCTAAGAACCCTAGACATTTGTCGCCATTGCCTCCTTGCTCCCACCCTCAGGTGCTGGGCTTCAACACCCGTCAGCGGAAGGCTTTCCTCAATGCTGTGATGCGCTGGGGGATGCCACCACAGGATGCCTTCACCACACAGTGGCTGGTGCGGGACCTGAGGGGCAAGACTGAGAAGGAGTTTAAGTGAGTGTGGGTGATACAGGGCTGAGTTGGACGCAAGGGGAAGAGCTTTGGGTGTTCCTTTCTTCCTTGGGGCCGCCATATGATGTGACCTTACTCAACTGATTATCACCCTCCCTGTCATACAATACTTCCTGGCTCGATTTCCTGGGGGGTGGTCTCAGCCCACTCCACCTCCCCTCAGCCGAGCCTAGAGTAGAGGGGCCAGGCATCCTCCCCAGGGGAGGGGCGTTGAAGCAAGGAGCCTCTCCTGGGCTGTCCTAGCCTCACATTTACTTGACCACAATAACCTGGCAGGAGGAGCTGGTGGAAAGGATGAAGAGCTGACTGATGGGGCCCAGGAATTAAGTACCAAGGCCAAAGGGAAAGACCCAGGGGTGGGGCGCAGGGGGACAGTTAGGACTTGGAGGGCTGGTAATGGTGAGAGTGAGAGGCCCAGGGGAGGAGCCCTGGAGCACCTGGGGATTTGGGGGTTTGGGGGTCCTCAGTCATCCTCGCGCCTCCCTCACTGCCCTATACCCCTTCTGTGGCTCCCCTAACCCTCCTCCCACTCCCATGCTCCTTAGGGCCTATGTGTCTTTGTTCATGCGCCATCTGTGTGAGCCTGGGGCAGACGGCTCTGAAACCTTTGC 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GGTTGAGTTTGTGTAAAGGAGTAGTTAGAATAAGCAAGCATCCCACCACCTCATTATTGCAGACTCCATCCTTTTCTCTTGCTCTAGATGACCAAAATGTTAGACTTGCTTGAGGACTTCTTAGACTATGAAGGCTACAAGTATGAGCGCATCGATGGTGGTATCACGGGTGCCCTGAGGCAGGAGGCCATCGATCGGTTTAATGGTGAGGGAGATACACTGGTCCCTGGTGGGTGTGGGAGGCCTGAGAAACCTGTGATAGGTCCCTGGGATGGGAGGGGGACTGGCTTGGGGGACATTGGAAACTTAGGCTTTGAGTTGGGGGCATGGTTGTTTGTCATCAGAGAACATCTAGGAGCAGGTGGACAGAACTACCGGGTACAAGAAAAACCTGATCCAACTCTCACCTCCTAGCTCCTGGGGCCCAACAATTCTGCTTCCTCCTGTCCACCCGAGCTGGGGGCCTGGGCATCAATCTGGCCACTGCTGACACTGTCATCATCTTTGATTCTGACTGGAACCCCCATAATGACATCCAGGTGGGAACTCGCATCCTAGAACCCCTGCACCATTTAGCAAGGAGATGTGGGTTCATGGAGGAGGGTGTCATGTTCCGGGGTCAGAAATAAATCTCTTCTGGGAGGAGAGAAGGCCCTTCTTCAGCAGCCTTCTTTCCTGAGGCAGCTCTATGGGCAGCTTCTCCCCGGCCACTCCCCTGACCCACCCGCCACTTTCTCTTGCCCCTGCAGGCCTTTAGCCGGGCTCATCGGATTGGCCAGGCCAACAAAGTGATGATTTACCGGTTTGTGACTCGCGCGTCAGTGGAAGAGCGAATCACACAAGTGGCCAAGAGAAAGATGATGCTGACACACCTGGTTGTGCGGCCTGGGCTGGGCTCCAAGGCAGGCTCCATGTCCAAGCAGGAGCTTGACGACATTCTCAAATTTGGCACTGAAGAGCTATTCAAGGATGAAAACGAGGGTGAGAACCTTTTCTGCAGCTCTGTGAAAGCAGGCCCCTGCTCTCTCAGGAGTACTTATCAGCCCCCTGGGGAGAGAAAAACAACTCTTCTCTGCAGCCTTTGAAGGAAGGAGAGCCTTCTTTTAGTAGCCCTTGGAGGAAGGTTGGCCTCTTTCTTTGCCTGTAGGGTTAAAACAAACAAAACAAAAACCTTTCAACATTGGCTCCCGGGGAAAAAGCCTTCTCTAGGGCTCCTGTGAAAAGGACGCAGAGTAGAAGCTTTCCCATCAGCCTTTCTAAACTTTGGAACCCAAAGTTCCCGTTTGTTTTCCCTCTCACCAGGGGAGAACAAGGAGGAGGACAGCAGTGTGATTCATTATGACAATGAGGCCATCGCTCGGCTGTTGGACCGGAACCAGGATGCAACTGAGGACACTGACGTGCAGAACATGAATGAGTATCTCAGCTCCTTCAAGGTGGCACAGTACGTCGTGCGGGAAGAAGACAAGGTGAGAGGCTTTGGGGGCCAGACATTATCTATCCCAGGCCATCTCCAAAAGGCAGTATCCTTTACTCAGCCTTGAAGTAGGAGGGTCTGTCCCCCTTAAAACAGTAGTGGACCTCAAACAACTTCTTCGTCTAATAGGTGAGACTGGACTTCAGAGAGAAACGTAGGCACAGACAGTACTGGTAAACACAGAAGGGTACCTTCTGAGACAGTGCAGGAGAAACACTGTCAGAGGGATTAGAGGAGAGATTTAGAAAACATGAGGAGAGCACATTGCAGGTAAGAGATGGCATGGAACATGCGCAATGTCCAGAAAATGTATGCAGAGCCACGAAGCTGCAGGAGTGGGGAGACCGGATTGGGCTGACGCAGCAGAGTAGGGATTTCCTTGCAGTGGAAGGATTAGCAAAGAAGGAGACCCCCAGTGTTCATTCATTCTGTTGCCCTTCAGATTGAGGAAATTGAGCGAGAGATCATCAAGCAGGAGGAGAATGTGGACCCTGACTACTGGGAGAAGCTGCTGAGGCATCACTATGAGCAACAGCAGGAAGACCTAGCCCGGAATCTAGGCAAGGGCAAGTGGGTTCGCAAGCAAGTTAACTACAATGATGCTGCTCAGGAAGACCAAGGTGAGGACTGCCCCAGATGCAGGCAGTAAAGGGGGGAAGTGATGATGAGTAGGGACTTGAAGGCTGGAGCTATTTAGAGGGAAAGAGAGAAGCCTAGAAGTCAGAGCCTTCCTCTGCTAAAAGGGAAAGACATAAGGTAGAGTCATTAGGAACTACCCAGAGGCCAGGTGGGTTTGCAGGAGATTTAAACTCTTCGGTGGTTGCACAGGCATCCTGTGGACACCCAGGGCCATTGCTTAGAGTAGGTTTTGCAGGAGAAGCAGAGGGGCCCAGAGACTGAAGGTGGGCGGTGAATGGAGATGGTGTAGGATATGCGGCTCCCAAGTCAGACTTTGGGCAGTGATCTGGTGTTCCCAGAAGGACCAAGGCCAGAATAAAGGTAGACAAGTCTCGGCAGGGAGGAATCCAGCCAGAAAGGGCCTCAGCATGGGCATATCCCGAGAGCCCTCCCTGACCACTGGGCCCTTTCCACCCCCACAGACAACCAGTCAGAGTACTCGGTGGGTTCAGAGGAGGAGGATGAAGACTTCGATGAACGTCCTGAAGGTGGCATCTGTGTTCCTGACTCTACCTCACCTCTTCCCGTTTTATTTTCCAGTTTGCTTTAAGCCCACTGTTTTTATACAAGTAAAAAAGTCTTCGTGTGTGTGTGGAAAAACTCGATTGCAGATGAGCAGAAAGGAAGAAATATTCATAGTCTCTCTGCTAGTAAACTTCGGTGTGTGTGACCACATAGGCTAGATCCAGAAAGGCCATATCATTTTCCATTCCCACTGGTAATCTGGGCCTTTGTCAGATATCAGCTGTTAATTTTAAAATATGACTGGTTCTTTTAGACTTAGTGGGTTAGTAGTTCTGAAGTGCTTGGGAGAGAATTGGGAGCACCTCAAACGTGACAGGAATGTTCCTGTGTTGTGTATCTTGTGGGAATGGGGTGCTAAGGAGGACTGAGGCTTAGAGGAGGTGGTGGCTCAGCTAACTGATGTCATCCCCACCCTCAGGGCGTAGACAGTCAAAGAGGCAGCTCCGGAATGAGAAAGATAAGCCACTGCCTCCACTGCTGGCCCGAGTCGGGGGCAACATTGAGGTGAGAGCTGGGCCCAGTGTTCCTGAGTTCTCCAAGAGGGCATGAGGGCAGGAGGTTGGAAGTTGGTGCCTGGATCACTGAAGGTAGAAAGGACAAGACCTAAGAACCCTAGACATTTGTCGCCATTGCCTCCTTGCTCCCACCCTCAGGTGCTGGGCTTCAACACCCGTCAGCGGAAGGCTTTCCTCAATGCTGTGATGCGCTGGGGGATGCCACCACAGGATGCCTTCACCACACAGTGGCTGGTGCGGGACCTGAGGGGCAAGACTGAGAAGGAGTTTAAGTGAGTGTGGGTGATACAGGGCTGAGTTGGACGCAAGGGGAAGAGCTTTGGGTGTTCCTTTCTTCCTTGGGGCCGCCATATGATGTGACCTTACTCAACTGATTATCACCCTCCCTGTCATACAATACTTCCTGGCTCGATTTCCTGGGGGGTGGTCTCAGCCCACTCCACCTCCCCTCAGCCGAGCCTAGAGTAGAGGGGCCAGGCATCCTCCCCAGGGGAGGGGCGTTGAAGCAAGGAGCCTCTCCTGGGCTGTCCTAGCCTCACATTTACTTGACCACAATAACCTGGCAGGAGGAGCTGGTGGAAAGGATGAAGAGCTGACTGATGGGGCCCAGGAATTAAGTACCAAGGCCAAAGGGAAAGACCCAGGGGTGGGGCGCAGGGGGACAGTTAGGACTTGGAGGGCTGGTAATGGTGAGAGTGAGAGGCCCAGGGGAGGAGCCCTGGAGCACCTGGGGATTTGGGGGTTTGGGGGTCCTCAGTCATCCTCGCGCCTCCCTCACTGCCCTATACCCCTTCTGTGGCTCCCCTAACCCTCCTCCCACTCCCATGCTCCTTAGGGCCTATGTGTCTTTGTTCATGCGCCATCTGTGTGAGCCTGGGGCAGACGGCTCTGAAACCTTTGC 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Task1_train_23642 | A variant was discovered on Chromosome 17, affecting GUCY2D (guanylate cyclase 2D, retinal). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Leber congenital amaurosis 1 | TTAAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGAATAGATTTTGTGTATGGTGTGAGATAGGGATTGAATTCTATTTTCCCCCCAGATGGCTAATCAGCTCCATTTGTTGAAGTTTATTCTTTCCCAGTTGGTAAGAAATGTCCACGTCTTCACACATTTGCTGTGTTTGTTTCAGTACTGTATATTCTATTTCATTGGTCCATTTGTTTATCCTTGTGCCAAAACTATGAAGTCTTTATTGCCATAGCTTTATAATATATATTTATATAAATATATAATTGCTGTCACTACATAATGTGGATTTATATAAATATATAATATATAATTGCTATAGCTTTATAGTATATATTTATATAATTGCTGTTTTATATATCATATAATTATATAAATATATAATTGCTATGTTTTATATATTATATATTTATGTAGATATATAATTGCTATGTTTTATATATTATATATTTACATAAATACATAATTGCTATTGCTTTATAATAAATTTGTATATCTTATAGGGCATCTTCCATTATACTCTTCTCTAAAATTGTTAGCTATTCTTGCCATCCGGGCAATTATATTCATTTTCACAACAACCCTCAGATTAAGCAATTGCCCAAGGTCCAAAAATCAGCAAGAGGGACTTGGAACCCAGGTCTGTCGGAGGCCAAAGCTCTTTTCATTACTTCCTGAGGGTGGTTTTCTAGGCATGGAGAAGCAGAGGTCAGGGAATCAAGTGTGGCGAGAGAGAGAAGAGAAGTGAAAGAAGAAAGGCAGGTGTCAGCTTGGTGTGGGTTTGGTCTCTGGGATATAGACTTTGCCAGCCAAAGGATGGAGCTTGAACTTAGCTGGCAGAACTGGAAACAGAAGATTGTAAGGAAAGGGACTGGGATCAGTGTTTCTTCTCCAGGACGGATTACCCACAGCTGTCCACGGGCAGGCACTTGTTACTTTCTGGCTGAGCAGGGCAGTGTGGCCGACGGCTGAAAGGGGAAGCTGCGGCTGCTTTTGTGCAGGGGTGGTGGTGATGAGGGTGATGTGGGGGGCTGGAAGGCATGGAGGGGAAAGGATCTGGCTGACTACCTGGAAGCCAGGACAGATCCCACCCCAGAAAGGCGCAGTAGGGGCTCTCATCCTCCACTAGCCCGCCCCTCCCTACCTAATTAAGGACCCTAATCAGCTTGGGGAGATTAAGGGCTCTGGCCGGCTGTACCCACGCCCCCGCCCTGGCCTGGGCTGGCAAGGAAGACCTGTGGGCGGGCGTCAAAAGGGGGACCGGCCCTGTGACCCCTCACCGGGGGCCGTGGGCCCGAGCCCCCGGACTTCCCTGTAAATGTCAGAGGCCCCTCCGCTGGGATAGGGTCGGTCTGAGGGCGCAGGCGAGTCCCTGCTGACCCCTGACGCCTCCGACGGGGGGAGGGGCAGGCCGGGTGGGAGCGGGAAGCCGGGGCGGCAGAAGGGGGCTTCGGGGCGGTGTCCTTGGCCCCAGTTAGTCTTCCCAGCCTCCGGAGGGGGCGGTAGCAGCAGAATCATCCCATGGGTTACTCGGGCTTGGAGAAACTCGGGGTTACGGGGAGAACCCTAGGGGAGGCCGGGGTCTCAGTCGCTCAGCCTGCTCCGTCTGTGTTCGCAGAAGCCGGCAATGACCGCCTGCGCCCGCCGAGCGGGTGGGCTTCCGGACCCCGGGCTCTGCGGTCCCGCGTGGTGGGCTCCGTCCCTGCCCCGCCTCCCCCGGGCCCTGCCCCGGCTCCCGCTCCTGCTGCTCCTGCTTCTGCTGCAGCCCCCCGCCCTCTCCGCCGTGTTCACGGTGGGGGTCCTGGGCCCCTGGGCTTGCGACCCCATCTTCTCTCGGGCTCGCCCGGACCTGGCCGCCCGCCTGGCCGCCGCCCGCCTGAACCGCGACCCCGGCCTGGCAGGCGGTCCCCGCTTCGAGGTAGCGCTGCTGCCCGAGCCTTGCCGGACGCCGGGCTCGCTGGGGGCCGTGTCCTCCGCGCTGGCCCGCGTGTCGGGCCTCGTGGGTCCGGTGAACCCTGCGGCCTGCCGGCCAGCCGAGCTGCTCGCCGAAGAAGCCGGGATCGCGCTGGTGCCCTGGGGCTGCCCCTGGACGCAGGCGGAGGGCACCACGGCCCCTGCCGTGACCCCCGCCGCGGATGCCCTCTACGCCCTGCTTCGCGCATTCGGCTGGGCGCGCGTGGCCCTGGTCACCGCCCCCCAGGACCTGTGGGTGGAGGCGGGACGCTCACTGTCCACGGCACTCAGGGCCCGGGGCCTGCCTGTCGCCTCCGTGACTTCCATGGAGCCCTTGGACCTGTCTGGAGCCCGGGAGGCCCTGAGGAAGGTTCGGGACGGGCCCAGGGTCACAGGTAGGCTCCCTTGCAGGGTGCGAGGAGGTCGGCTGGTCCTGCCGGCAGCCGGACGGCGCCGCGAGCCAAGCCTCTGTCCGCAGCAGTGATCATGGTGATGCACTCGGTGCTGCTGGGTGGCGAGGAGCAGCGCTACCTCCTGGAGGCCGCAGAGGAGCTGGGCCTGACCGATGGCTCCCTGGTCTTCCTGCCCTTCGACACGATCCACTACGCCTTGTCCCCAGGCCCGGAGGCCTTGGCCGCACTCGCCAACAGCTCCCAGCTTCGCAGGGCCCACGATGCCGTGCTCACCCTCACGCGCCACTGTCCCTCTGAAGGCAGCGTGCTGGACAGCCTGCGCAGGGCTCAAGAGCGCCGCGAGCTGCCCTCTGACCTCAATCTGCAGCAGGTAGACGGTCCCGGGAGGAGGGAAGAAGGCAAGGGAGAGGGGAGAGGACAGCCAAAGCAGGGAGAGGAGGATGCAGCCAATGGAGAAAGAACCACTGGCAGCTCTAGCTGTTTGGAGTTTCCTGGGTAATGTAGAGGCTCTGGCCCCACTTGGGGTCTCTTAGTGTACGAGGATTGCCTCTAGAGAGTAGGCAATTCGACCTCTCAAGTCCAACATCAAGCAGTAAACTCTAATGAACTGTAAACTGCAAAACCTTTTGCAATTGGCTTCAAAGTAAACCCGTTTCCACCACCACATACTCCCAGCTGTCTAAAATAAATACTTGGTGTTCTTGAAAGCAGGAAGGAGGGAGGATGCCAATCCAACCTTCATCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTATTTCCAACATCCAGCTAATACCTAGGGATCCCCAAGTCCCCAGAATCCCAGTTCAGATCATCTAACTTTACTCCCGCCACAAAGGGGGACTAGAAACCACTATGAGAAGGGAATTTAGATGTCAACGGGCAGTGAATTAACCACCACAAAGGTCCAACTCACAGGCGGCTGCATGAGAGAAGGGTCGTAGGGGTTGCAATTTCCCATCGATGCCCCTAGATTCTTCCAAGAGGATTGGAGGTGTCCAATGGAGGGGGGAGGGGTGCAGTGATGGGAATAGTCAGAAGAGAATACAAGATAGGAATCATAATGAGATGGGATGGAGGGAGGGTCGGTCAGTGGAGAGAGGGAGGTTGAGAAAGTAGAGAGAGAAAAGCCCTTCAGCTCTCAGTAAGTACCACAGCAGTCCTCTCCACTGCCCAAACTGCGCAAGCCT 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TTAAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGAATAGATTTTGTGTATGGTGTGAGATAGGGATTGAATTCTATTTTCCCCCCAGATGGCTAATCAGCTCCATTTGTTGAAGTTTATTCTTTCCCAGTTGGTAAGAAATGTCCACGTCTTCACACATTTGCTGTGTTTGTTTCAGTACTGTATATTCTATTTCATTGGTCCATTTGTTTATCCTTGTGCCAAAACTATGAAGTCTTTATTGCCATAGCTTTATAATATATATTTATATAAATATATAATTGCTGTCACTACATAATGTGGATTTATATAAATATATAATATATAATTGCTATAGCTTTATAGTATATATTTATATAATTGCTGTTTTATATATCATATAATTATATAAATATATAATTGCTATGTTTTATATATTATATATTTATGTAGATATATAATTGCTATGTTTTATATATTATATATTTACATAAATACATAATTGCTATTGCTTTATAATAAATTTGTATATCTTATAGGGCATCTTCCATTATACTCTTCTCTAAAATTGTTAGCTATTCTTGCCATCCGGGCAATTATATTCATTTTCACAACAACCCTCAGATTAAGCAATTGCCCAAGGTCCAAAAATCAGCAAGAGGGACTTGGAACCCAGGTCTGTCGGAGGCCAAAGCTCTTTTCATTACTTCCTGAGGGTGGTTTTCTAGGCATGGAGAAGCAGAGGTCAGGGAATCAAGTGTGGCGAGAGAGAGAAGAGAAGTGAAAGAAGAAAGGCAGGTGTCAGCTTGGTGTGGGTTTGGTCTCTGGGATATAGACTTTGCCAGCCAAAGGATGGAGCTTGAACTTAGCTGGCAGAACTGGAAACAGAAGATTGTAAGGAAAGGGACTGGGATCAGTGTTTCTTCTCCAGGACGGATTACCCACAGCTGTCCACGGGCAGGCACTTGTTACTTTCTGGCTGAGCAGGGCAGTGTGGCCGACGGCTGAAAGGGGAAGCTGCGGCTGCTTTTGTGCAGGGGTGGTGGTGATGAGGGTGATGTGGGGGGCTGGAAGGCATGGAGGGGAAAGGATCTGGCTGACTACCTGGAAGCCAGGACAGATCCCACCCCAGAAAGGCGCAGTAGGGGCTCTCATCCTCCACTAGCCCGCCCCTCCCTACCTAATTAAGGACCCTAATCAGCTTGGGGAGATTAAGGGCTCTGGCCGGCTGTACCCACGCCCCCGCCCTGGCCTGGGCTGGCAAGGAAGACCTGTGGGCGGGCGTCAAAAGGGGGACCGGCCCTGTGACCCCTCACCGGGGGCCGTGGGCCCGAGCCCCCGGACTTCCCTGTAAATGTCAGAGGCCCCTCCGCTGGGATAGGGTCGGTCTGAGGGCGCAGGCGAGTCCCTGCTGACCCCTGACGCCTCCGACGGGGGGAGGGGCAGGCCGGGTGGGAGCGGGAAGCCGGGGCGGCAGAAGGGGGCTTCGGGGCGGTGTCCTTGGCCCCAGTTAGTCTTCCCAGCCTCCGGAGGGGGCGGTAGCAGCAGAATCATCCCATGGGTTACTCGGGCTTGGAGAAACTCGGGGTTACGGGGAGAACCCTAGGGGAGGCCGGGGTCTCAGTCGCTCAGCCTGCTCCGTCTGTGTTCGCAGAAGCCGGCAGTGACCGCCTGCGCCCGCCGAGCGGGTGGGCTTCCGGACCCCGGGCTCTGCGGTCCCGCGTGGTGGGCTCCGTCCCTGCCCCGCCTCCCCCGGGCCCTGCCCCGGCTCCCGCTCCTGCTGCTCCTGCTTCTGCTGCAGCCCCCCGCCCTCTCCGCCGTGTTCACGGTGGGGGTCCTGGGCCCCTGGGCTTGCGACCCCATCTTCTCTCGGGCTCGCCCGGACCTGGCCGCCCGCCTGGCCGCCGCCCGCCTGAACCGCGACCCCGGCCTGGCAGGCGGTCCCCGCTTCGAGGTAGCGCTGCTGCCCGAGCCTTGCCGGACGCCGGGCTCGCTGGGGGCCGTGTCCTCCGCGCTGGCCCGCGTGTCGGGCCTCGTGGGTCCGGTGAACCCTGCGGCCTGCCGGCCAGCCGAGCTGCTCGCCGAAGAAGCCGGGATCGCGCTGGTGCCCTGGGGCTGCCCCTGGACGCAGGCGGAGGGCACCACGGCCCCTGCCGTGACCCCCGCCGCGGATGCCCTCTACGCCCTGCTTCGCGCATTCGGCTGGGCGCGCGTGGCCCTGGTCACCGCCCCCCAGGACCTGTGGGTGGAGGCGGGACGCTCACTGTCCACGGCACTCAGGGCCCGGGGCCTGCCTGTCGCCTCCGTGACTTCCATGGAGCCCTTGGACCTGTCTGGAGCCCGGGAGGCCCTGAGGAAGGTTCGGGACGGGCCCAGGGTCACAGGTAGGCTCCCTTGCAGGGTGCGAGGAGGTCGGCTGGTCCTGCCGGCAGCCGGACGGCGCCGCGAGCCAAGCCTCTGTCCGCAGCAGTGATCATGGTGATGCACTCGGTGCTGCTGGGTGGCGAGGAGCAGCGCTACCTCCTGGAGGCCGCAGAGGAGCTGGGCCTGACCGATGGCTCCCTGGTCTTCCTGCCCTTCGACACGATCCACTACGCCTTGTCCCCAGGCCCGGAGGCCTTGGCCGCACTCGCCAACAGCTCCCAGCTTCGCAGGGCCCACGATGCCGTGCTCACCCTCACGCGCCACTGTCCCTCTGAAGGCAGCGTGCTGGACAGCCTGCGCAGGGCTCAAGAGCGCCGCGAGCTGCCCTCTGACCTCAATCTGCAGCAGGTAGACGGTCCCGGGAGGAGGGAAGAAGGCAAGGGAGAGGGGAGAGGACAGCCAAAGCAGGGAGAGGAGGATGCAGCCAATGGAGAAAGAACCACTGGCAGCTCTAGCTGTTTGGAGTTTCCTGGGTAATGTAGAGGCTCTGGCCCCACTTGGGGTCTCTTAGTGTACGAGGATTGCCTCTAGAGAGTAGGCAATTCGACCTCTCAAGTCCAACATCAAGCAGTAAACTCTAATGAACTGTAAACTGCAAAACCTTTTGCAATTGGCTTCAAAGTAAACCCGTTTCCACCACCACATACTCCCAGCTGTCTAAAATAAATACTTGGTGTTCTTGAAAGCAGGAAGGAGGGAGGATGCCAATCCAACCTTCATCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTATTTCCAACATCCAGCTAATACCTAGGGATCCCCAAGTCCCCAGAATCCCAGTTCAGATCATCTAACTTTACTCCCGCCACAAAGGGGGACTAGAAACCACTATGAGAAGGGAATTTAGATGTCAACGGGCAGTGAATTAACCACCACAAAGGTCCAACTCACAGGCGGCTGCATGAGAGAAGGGTCGTAGGGGTTGCAATTTCCCATCGATGCCCCTAGATTCTTCCAAGAGGATTGGAGGTGTCCAATGGAGGGGGGAGGGGTGCAGTGATGGGAATAGTCAGAAGAGAATACAAGATAGGAATCATAATGAGATGGGATGGAGGGAGGGTCGGTCAGTGGAGAGAGGGAGGTTGAGAAAGTAGAGAGAGAAAAGCCCTTCAGCTCTCAGTAAGTACCACAGCAGTCCTCTCCACTGCCCAAACTGCGCAAGCCT 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Task1_train_23643 | Consider this mutation in GUCY2D (guanylate cyclase 2D, retinal) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Leber congenital amaurosis 1 | TTAAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGAATAGATTTTGTGTATGGTGTGAGATAGGGATTGAATTCTATTTTCCCCCCAGATGGCTAATCAGCTCCATTTGTTGAAGTTTATTCTTTCCCAGTTGGTAAGAAATGTCCACGTCTTCACACATTTGCTGTGTTTGTTTCAGTACTGTATATTCTATTTCATTGGTCCATTTGTTTATCCTTGTGCCAAAACTATGAAGTCTTTATTGCCATAGCTTTATAATATATATTTATATAAATATATAATTGCTGTCACTACATAATGTGGATTTATATAAATATATAATATATAATTGCTATAGCTTTATAGTATATATTTATATAATTGCTGTTTTATATATCATATAATTATATAAATATATAATTGCTATGTTTTATATATTATATATTTATGTAGATATATAATTGCTATGTTTTATATATTATATATTTACATAAATACATAATTGCTATTGCTTTATAATAAATTTGTATATCTTATAGGGCATCTTCCATTATACTCTTCTCTAAAATTGTTAGCTATTCTTGCCATCCGGGCAATTATATTCATTTTCACAACAACCCTCAGATTAAGCAATTGCCCAAGGTCCAAAAATCAGCAAGAGGGACTTGGAACCCAGGTCTGTCGGAGGCCAAAGCTCTTTTCATTACTTCCTGAGGGTGGTTTTCTAGGCATGGAGAAGCAGAGGTCAGGGAATCAAGTGTGGCGAGAGAGAGAAGAGAAGTGAAAGAAGAAAGGCAGGTGTCAGCTTGGTGTGGGTTTGGTCTCTGGGATATAGACTTTGCCAGCCAAAGGATGGAGCTTGAACTTAGCTGGCAGAACTGGAAACAGAAGATTGTAAGGAAAGGGACTGGGATCAGTGTTTCTTCTCCAGGACGGATTACCCACAGCTGTCCACGGGCAGGCACTTGTTACTTTCTGGCTGAGCAGGGCAGTGTGGCCGACGGCTGAAAGGGGAAGCTGCGGCTGCTTTTGTGCAGGGGTGGTGGTGATGAGGGTGATGTGGGGGGCTGGAAGGCATGGAGGGGAAAGGATCTGGCTGACTACCTGGAAGCCAGGACAGATCCCACCCCAGAAAGGCGCAGTAGGGGCTCTCATCCTCCACTAGCCCGCCCCTCCCTACCTAATTAAGGACCCTAATCAGCTTGGGGAGATTAAGGGCTCTGGCCGGCTGTACCCACGCCCCCGCCCTGGCCTGGGCTGGCAAGGAAGACCTGTGGGCGGGCGTCAAAAGGGGGACCGGCCCTGTGACCCCTCACCGGGGGCCGTGGGCCCGAGCCCCCGGACTTCCCTGTAAATGTCAGAGGCCCCTCCGCTGGGATAGGGTCGGTCTGAGGGCGCAGGCGAGTCCCTGCTGACCCCTGACGCCTCCGACGGGGGGAGGGGCAGGCCGGGTGGGAGCGGGAAGCCGGGGCGGCAGAAGGGGGCTTCGGGGCGGTGTCCTTGGCCCCAGTTAGTCTTCCCAGCCTCCGGAGGGGGCGGTAGCAGCAGAATCATCCCATGGGTTACTCGGGCTTGGAGAAACTCGGGGTTACGGGGAGAACCCTAGGGGAGGCCGGGGTCTCAGTCGCTCAGCCTGCTCCGTCTGTGTTCGCAGAAGCCGGCAATGACCGCCTGCGCCCGCCGAGCGGGTGGGCTTCCGGACCCCGGGCTCTGCGGTCCCGCGTGGTGGGCTCCGTCCCTGCCCCGCCTCCCCCGGGCCCTGCCCCGGCTCCCGCTCCTGCTGCTCCTGCTTCTGCTGCAGCCCCCCGCCCTCTCCGCCGTGTTCACGGTGGGGGTCCTGGGCCCCTGGGCTTGCGACCCCATCTTCTCTCGGGCTCGCCCGGACCTGGCCGCCCGCCTGGCCGCCGCCCGCCTGAACCGCGACCCCGGCCTGGCAGGCGGTCCCCGCTTCGAGGTAGCGCTGCTGCCCGAGCCTTGCCGGACGCCGGGCTCGCTGGGGGCCGTGTCCTCCGCGCTGGCCCGCGTGTCGGGCCTCGTGGGTCCGGTGAACCCTGCGGCCTGCCGGCCAGCCGAGCTGCTCGCCGAAGAAGCCGGGATCGCGCTGGTGCCCTGGGGCTGCCCCTGGACGCAGGCGGAGGGCACCACGGCCCCTGCCGTGACCCCCGCCGCGGATGCCCTCTACGCCCTGCTTCGCGCATTCGGCTGGGCGCGCGTGGCCCTGGTCACCGCCCCCCAGGACCTGTGGGTGGAGGCGGGACGCTCACTGTCCACGGCACTCAGGGCCCGGGGCCTGCCTGTCGCCTCCGTGACTTCCATGGAGCCCTTGGACCTGTCTGGAGCCCGGGAGGCCCTGAGGAAGGTTCGGGACGGGCCCAGGGTCACAGGTAGGCTCCCTTGCAGGGTGCGAGGAGGTCGGCTGGTCCTGCCGGCAGCCGGACGGCGCCGCGAGCCAAGCCTCTGTCCGCAGCAGTGATCATGGTGATGCACTCGGTGCTGCTGGGTGGCGAGGAGCAGCGCTACCTCCTGGAGGCCGCAGAGGAGCTGGGCCTGACCGATGGCTCCCTGGTCTTCCTGCCCTTCGACACGATCCACTACGCCTTGTCCCCAGGCCCGGAGGCCTTGGCCGCACTCGCCAACAGCTCCCAGCTTCGCAGGGCCCACGATGCCGTGCTCACCCTCACGCGCCACTGTCCCTCTGAAGGCAGCGTGCTGGACAGCCTGCGCAGGGCTCAAGAGCGCCGCGAGCTGCCCTCTGACCTCAATCTGCAGCAGGTAGACGGTCCCGGGAGGAGGGAAGAAGGCAAGGGAGAGGGGAGAGGACAGCCAAAGCAGGGAGAGGAGGATGCAGCCAATGGAGAAAGAACCACTGGCAGCTCTAGCTGTTTGGAGTTTCCTGGGTAATGTAGAGGCTCTGGCCCCACTTGGGGTCTCTTAGTGTACGAGGATTGCCTCTAGAGAGTAGGCAATTCGACCTCTCAAGTCCAACATCAAGCAGTAAACTCTAATGAACTGTAAACTGCAAAACCTTTTGCAATTGGCTTCAAAGTAAACCCGTTTCCACCACCACATACTCCCAGCTGTCTAAAATAAATACTTGGTGTTCTTGAAAGCAGGAAGGAGGGAGGATGCCAATCCAACCTTCATCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTATTTCCAACATCCAGCTAATACCTAGGGATCCCCAAGTCCCCAGAATCCCAGTTCAGATCATCTAACTTTACTCCCGCCACAAAGGGGGACTAGAAACCACTATGAGAAGGGAATTTAGATGTCAACGGGCAGTGAATTAACCACCACAAAGGTCCAACTCACAGGCGGCTGCATGAGAGAAGGGTCGTAGGGGTTGCAATTTCCCATCGATGCCCCTAGATTCTTCCAAGAGGATTGGAGGTGTCCAATGGAGGGGGGAGGGGTGCAGTGATGGGAATAGTCAGAAGAGAATACAAGATAGGAATCATAATGAGATGGGATGGAGGGAGGGTCGGTCAGTGGAGAGAGGGAGGTTGAGAAAGTAGAGAGAGAAAAGCCCTTCAGCTCTCAGTAAGTACCACAGCAGTCCTCTCCACTGCCCAAACTGCGCAAGCCT 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TTAAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGAATAGATTTTGTGTATGGTGTGAGATAGGGATTGAATTCTATTTTCCCCCCAGATGGCTAATCAGCTCCATTTGTTGAAGTTTATTCTTTCCCAGTTGGTAAGAAATGTCCACGTCTTCACACATTTGCTGTGTTTGTTTCAGTACTGTATATTCTATTTCATTGGTCCATTTGTTTATCCTTGTGCCAAAACTATGAAGTCTTTATTGCCATAGCTTTATAATATATATTTATATAAATATATAATTGCTGTCACTACATAATGTGGATTTATATAAATATATAATATATAATTGCTATAGCTTTATAGTATATATTTATATAATTGCTGTTTTATATATCATATAATTATATAAATATATAATTGCTATGTTTTATATATTATATATTTATGTAGATATATAATTGCTATGTTTTATATATTATATATTTACATAAATACATAATTGCTATTGCTTTATAATAAATTTGTATATCTTATAGGGCATCTTCCATTATACTCTTCTCTAAAATTGTTAGCTATTCTTGCCATCCGGGCAATTATATTCATTTTCACAACAACCCTCAGATTAAGCAATTGCCCAAGGTCCAAAAATCAGCAAGAGGGACTTGGAACCCAGGTCTGTCGGAGGCCAAAGCTCTTTTCATTACTTCCTGAGGGTGGTTTTCTAGGCATGGAGAAGCAGAGGTCAGGGAATCAAGTGTGGCGAGAGAGAGAAGAGAAGTGAAAGAAGAAAGGCAGGTGTCAGCTTGGTGTGGGTTTGGTCTCTGGGATATAGACTTTGCCAGCCAAAGGATGGAGCTTGAACTTAGCTGGCAGAACTGGAAACAGAAGATTGTAAGGAAAGGGACTGGGATCAGTGTTTCTTCTCCAGGACGGATTACCCACAGCTGTCCACGGGCAGGCACTTGTTACTTTCTGGCTGAGCAGGGCAGTGTGGCCGACGGCTGAAAGGGGAAGCTGCGGCTGCTTTTGTGCAGGGGTGGTGGTGATGAGGGTGATGTGGGGGGCTGGAAGGCATGGAGGGGAAAGGATCTGGCTGACTACCTGGAAGCCAGGACAGATCCCACCCCAGAAAGGCGCAGTAGGGGCTCTCATCCTCCACTAGCCCGCCCCTCCCTACCTAATTAAGGACCCTAATCAGCTTGGGGAGATTAAGGGCTCTGGCCGGCTGTACCCACGCCCCCGCCCTGGCCTGGGCTGGCAAGGAAGACCTGTGGGCGGGCGTCAAAAGGGGGACCGGCCCTGTGACCCCTCACCGGGGGCCGTGGGCCCGAGCCCCCGGACTTCCCTGTAAATGTCAGAGGCCCCTCCGCTGGGATAGGGTCGGTCTGAGGGCGCAGGCGAGTCCCTGCTGACCCCTGACGCCTCCGACGGGGGGAGGGGCAGGCCGGGTGGGAGCGGGAAGCCGGGGCGGCAGAAGGGGGCTTCGGGGCGGTGTCCTTGGCCCCAGTTAGTCTTCCCAGCCTCCGGAGGGGGCGGTAGCAGCAGAATCATCCCATGGGTTACTCGGGCTTGGAGAAACTCGGGGTTACGGGGAGAACCCTAGGGGAGGCCGGGGTCTCAGTCGCTCAGCCTGCTCCGTCTGTGTTCGCAGAAGCCGGCAGTGACCGCCTGCGCCCGCCGAGCGGGTGGGCTTCCGGACCCCGGGCTCTGCGGTCCCGCGTGGTGGGCTCCGTCCCTGCCCCGCCTCCCCCGGGCCCTGCCCCGGCTCCCGCTCCTGCTGCTCCTGCTTCTGCTGCAGCCCCCCGCCCTCTCCGCCGTGTTCACGGTGGGGGTCCTGGGCCCCTGGGCTTGCGACCCCATCTTCTCTCGGGCTCGCCCGGACCTGGCCGCCCGCCTGGCCGCCGCCCGCCTGAACCGCGACCCCGGCCTGGCAGGCGGTCCCCGCTTCGAGGTAGCGCTGCTGCCCGAGCCTTGCCGGACGCCGGGCTCGCTGGGGGCCGTGTCCTCCGCGCTGGCCCGCGTGTCGGGCCTCGTGGGTCCGGTGAACCCTGCGGCCTGCCGGCCAGCCGAGCTGCTCGCCGAAGAAGCCGGGATCGCGCTGGTGCCCTGGGGCTGCCCCTGGACGCAGGCGGAGGGCACCACGGCCCCTGCCGTGACCCCCGCCGCGGATGCCCTCTACGCCCTGCTTCGCGCATTCGGCTGGGCGCGCGTGGCCCTGGTCACCGCCCCCCAGGACCTGTGGGTGGAGGCGGGACGCTCACTGTCCACGGCACTCAGGGCCCGGGGCCTGCCTGTCGCCTCCGTGACTTCCATGGAGCCCTTGGACCTGTCTGGAGCCCGGGAGGCCCTGAGGAAGGTTCGGGACGGGCCCAGGGTCACAGGTAGGCTCCCTTGCAGGGTGCGAGGAGGTCGGCTGGTCCTGCCGGCAGCCGGACGGCGCCGCGAGCCAAGCCTCTGTCCGCAGCAGTGATCATGGTGATGCACTCGGTGCTGCTGGGTGGCGAGGAGCAGCGCTACCTCCTGGAGGCCGCAGAGGAGCTGGGCCTGACCGATGGCTCCCTGGTCTTCCTGCCCTTCGACACGATCCACTACGCCTTGTCCCCAGGCCCGGAGGCCTTGGCCGCACTCGCCAACAGCTCCCAGCTTCGCAGGGCCCACGATGCCGTGCTCACCCTCACGCGCCACTGTCCCTCTGAAGGCAGCGTGCTGGACAGCCTGCGCAGGGCTCAAGAGCGCCGCGAGCTGCCCTCTGACCTCAATCTGCAGCAGGTAGACGGTCCCGGGAGGAGGGAAGAAGGCAAGGGAGAGGGGAGAGGACAGCCAAAGCAGGGAGAGGAGGATGCAGCCAATGGAGAAAGAACCACTGGCAGCTCTAGCTGTTTGGAGTTTCCTGGGTAATGTAGAGGCTCTGGCCCCACTTGGGGTCTCTTAGTGTACGAGGATTGCCTCTAGAGAGTAGGCAATTCGACCTCTCAAGTCCAACATCAAGCAGTAAACTCTAATGAACTGTAAACTGCAAAACCTTTTGCAATTGGCTTCAAAGTAAACCCGTTTCCACCACCACATACTCCCAGCTGTCTAAAATAAATACTTGGTGTTCTTGAAAGCAGGAAGGAGGGAGGATGCCAATCCAACCTTCATCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTATTTCCAACATCCAGCTAATACCTAGGGATCCCCAAGTCCCCAGAATCCCAGTTCAGATCATCTAACTTTACTCCCGCCACAAAGGGGGACTAGAAACCACTATGAGAAGGGAATTTAGATGTCAACGGGCAGTGAATTAACCACCACAAAGGTCCAACTCACAGGCGGCTGCATGAGAGAAGGGTCGTAGGGGTTGCAATTTCCCATCGATGCCCCTAGATTCTTCCAAGAGGATTGGAGGTGTCCAATGGAGGGGGGAGGGGTGCAGTGATGGGAATAGTCAGAAGAGAATACAAGATAGGAATCATAATGAGATGGGATGGAGGGAGGGTCGGTCAGTGGAGAGAGGGAGGTTGAGAAAGTAGAGAGAGAAAAGCCCTTCAGCTCTCAGTAAGTACCACAGCAGTCCTCTCCACTGCCCAAACTGCGCAAGCCT 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Task1_train_23644 | The gene GUCY2D (guanylate cyclase 2D, retinal) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Cone-rod dystrophy 6 | TTAAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGAATAGATTTTGTGTATGGTGTGAGATAGGGATTGAATTCTATTTTCCCCCCAGATGGCTAATCAGCTCCATTTGTTGAAGTTTATTCTTTCCCAGTTGGTAAGAAATGTCCACGTCTTCACACATTTGCTGTGTTTGTTTCAGTACTGTATATTCTATTTCATTGGTCCATTTGTTTATCCTTGTGCCAAAACTATGAAGTCTTTATTGCCATAGCTTTATAATATATATTTATATAAATATATAATTGCTGTCACTACATAATGTGGATTTATATAAATATATAATATATAATTGCTATAGCTTTATAGTATATATTTATATAATTGCTGTTTTATATATCATATAATTATATAAATATATAATTGCTATGTTTTATATATTATATATTTATGTAGATATATAATTGCTATGTTTTATATATTATATATTTACATAAATACATAATTGCTATTGCTTTATAATAAATTTGTATATCTTATAGGGCATCTTCCATTATACTCTTCTCTAAAATTGTTAGCTATTCTTGCCATCCGGGCAATTATATTCATTTTCACAACAACCCTCAGATTAAGCAATTGCCCAAGGTCCAAAAATCAGCAAGAGGGACTTGGAACCCAGGTCTGTCGGAGGCCAAAGCTCTTTTCATTACTTCCTGAGGGTGGTTTTCTAGGCATGGAGAAGCAGAGGTCAGGGAATCAAGTGTGGCGAGAGAGAGAAGAGAAGTGAAAGAAGAAAGGCAGGTGTCAGCTTGGTGTGGGTTTGGTCTCTGGGATATAGACTTTGCCAGCCAAAGGATGGAGCTTGAACTTAGCTGGCAGAACTGGAAACAGAAGATTGTAAGGAAAGGGACTGGGATCAGTGTTTCTTCTCCAGGACGGATTACCCACAGCTGTCCACGGGCAGGCACTTGTTACTTTCTGGCTGAGCAGGGCAGTGTGGCCGACGGCTGAAAGGGGAAGCTGCGGCTGCTTTTGTGCAGGGGTGGTGGTGATGAGGGTGATGTGGGGGGCTGGAAGGCATGGAGGGGAAAGGATCTGGCTGACTACCTGGAAGCCAGGACAGATCCCACCCCAGAAAGGCGCAGTAGGGGCTCTCATCCTCCACTAGCCCGCCCCTCCCTACCTAATTAAGGACCCTAATCAGCTTGGGGAGATTAAGGGCTCTGGCCGGCTGTACCCACGCCCCCGCCCTGGCCTGGGCTGGCAAGGAAGACCTGTGGGCGGGCGTCAAAAGGGGGACCGGCCCTGTGACCCCTCACCGGGGGCCGTGGGCCCGAGCCCCCGGACTTCCCTGTAAATGTCAGAGGCCCCTCCGCTGGGATAGGGTCGGTCTGAGGGCGCAGGCGAGTCCCTGCTGACCCCTGACGCCTCCGACGGGGGGAGGGGCAGGCCGGGTGGGAGCGGGAAGCCGGGGCGGCAGAAGGGGGCTTCGGGGCGGTGTCCTTGGCCCCAGTTAGTCTTCCCAGCCTCCGGAGGGGGCGGTAGCAGCAGAATCATCCCATGGGTTACTCGGGCTTGGAGAAACTCGGGGTTACGGGGAGAACCCTAGGGGAGGCCGGGGTCTCAGTCGCTCAGCCTGCTCCGTCTGTGTTCGCAGAAGCCGGCAATGACCGCCTGCGCCCGCCGAGCGGGTGGGCTTCCGGACCCCGGGCTCTGCGGTCCCGCGTGGTGGGCTCCGTCCCTGCCCCGCCTCCCCCGGGCCCTGCCCCGGCTCCCGCTCCTGCTGCTCCTGCTTCTGCTGCAGCCCCCCGCCCTCTCCGCCGTGTTCACGGTGGGGGTCCTGGGCCCCTGGGCTTGCGACCCCATCTTCTCTCGGGCTCGCCCGGACCTGGCCGCCCGCCTGGCCGCCGCCCGCCTGAACCGCGACCCCGGCCTGGCAGGCGGTCCCCGCTTCGAGGTAGCGCTGCTGCCCGAGCCTTGCCGGACGCCGGGCTCGCTGGGGGCCGTGTCCTCCGCGCTGGCCCGCGTGTCGGGCCTCGTGGGTCCGGTGAACCCTGCGGCCTGCCGGCCAGCCGAGCTGCTCGCCGAAGAAGCCGGGATCGCGCTGGTGCCCTGGGGCTGCCCCTGGACGCAGGCGGAGGGCACCACGGCCCCTGCCGTGACCCCCGCCGCGGATGCCCTCTACGCCCTGCTTCGCGCATTCGGCTGGGCGCGCGTGGCCCTGGTCACCGCCCCCCAGGACCTGTGGGTGGAGGCGGGACGCTCACTGTCCACGGCACTCAGGGCCCGGGGCCTGCCTGTCGCCTCCGTGACTTCCATGGAGCCCTTGGACCTGTCTGGAGCCCGGGAGGCCCTGAGGAAGGTTCGGGACGGGCCCAGGGTCACAGGTAGGCTCCCTTGCAGGGTGCGAGGAGGTCGGCTGGTCCTGCCGGCAGCCGGACGGCGCCGCGAGCCAAGCCTCTGTCCGCAGCAGTGATCATGGTGATGCACTCGGTGCTGCTGGGTGGCGAGGAGCAGCGCTACCTCCTGGAGGCCGCAGAGGAGCTGGGCCTGACCGATGGCTCCCTGGTCTTCCTGCCCTTCGACACGATCCACTACGCCTTGTCCCCAGGCCCGGAGGCCTTGGCCGCACTCGCCAACAGCTCCCAGCTTCGCAGGGCCCACGATGCCGTGCTCACCCTCACGCGCCACTGTCCCTCTGAAGGCAGCGTGCTGGACAGCCTGCGCAGGGCTCAAGAGCGCCGCGAGCTGCCCTCTGACCTCAATCTGCAGCAGGTAGACGGTCCCGGGAGGAGGGAAGAAGGCAAGGGAGAGGGGAGAGGACAGCCAAAGCAGGGAGAGGAGGATGCAGCCAATGGAGAAAGAACCACTGGCAGCTCTAGCTGTTTGGAGTTTCCTGGGTAATGTAGAGGCTCTGGCCCCACTTGGGGTCTCTTAGTGTACGAGGATTGCCTCTAGAGAGTAGGCAATTCGACCTCTCAAGTCCAACATCAAGCAGTAAACTCTAATGAACTGTAAACTGCAAAACCTTTTGCAATTGGCTTCAAAGTAAACCCGTTTCCACCACCACATACTCCCAGCTGTCTAAAATAAATACTTGGTGTTCTTGAAAGCAGGAAGGAGGGAGGATGCCAATCCAACCTTCATCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTATTTCCAACATCCAGCTAATACCTAGGGATCCCCAAGTCCCCAGAATCCCAGTTCAGATCATCTAACTTTACTCCCGCCACAAAGGGGGACTAGAAACCACTATGAGAAGGGAATTTAGATGTCAACGGGCAGTGAATTAACCACCACAAAGGTCCAACTCACAGGCGGCTGCATGAGAGAAGGGTCGTAGGGGTTGCAATTTCCCATCGATGCCCCTAGATTCTTCCAAGAGGATTGGAGGTGTCCAATGGAGGGGGGAGGGGTGCAGTGATGGGAATAGTCAGAAGAGAATACAAGATAGGAATCATAATGAGATGGGATGGAGGGAGGGTCGGTCAGTGGAGAGAGGGAGGTTGAGAAAGTAGAGAGAGAAAAGCCCTTCAGCTCTCAGTAAGTACCACAGCAGTCCTCTCCACTGCCCAAACTGCGCAAGCCT 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TTAAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGAATAGATTTTGTGTATGGTGTGAGATAGGGATTGAATTCTATTTTCCCCCCAGATGGCTAATCAGCTCCATTTGTTGAAGTTTATTCTTTCCCAGTTGGTAAGAAATGTCCACGTCTTCACACATTTGCTGTGTTTGTTTCAGTACTGTATATTCTATTTCATTGGTCCATTTGTTTATCCTTGTGCCAAAACTATGAAGTCTTTATTGCCATAGCTTTATAATATATATTTATATAAATATATAATTGCTGTCACTACATAATGTGGATTTATATAAATATATAATATATAATTGCTATAGCTTTATAGTATATATTTATATAATTGCTGTTTTATATATCATATAATTATATAAATATATAATTGCTATGTTTTATATATTATATATTTATGTAGATATATAATTGCTATGTTTTATATATTATATATTTACATAAATACATAATTGCTATTGCTTTATAATAAATTTGTATATCTTATAGGGCATCTTCCATTATACTCTTCTCTAAAATTGTTAGCTATTCTTGCCATCCGGGCAATTATATTCATTTTCACAACAACCCTCAGATTAAGCAATTGCCCAAGGTCCAAAAATCAGCAAGAGGGACTTGGAACCCAGGTCTGTCGGAGGCCAAAGCTCTTTTCATTACTTCCTGAGGGTGGTTTTCTAGGCATGGAGAAGCAGAGGTCAGGGAATCAAGTGTGGCGAGAGAGAGAAGAGAAGTGAAAGAAGAAAGGCAGGTGTCAGCTTGGTGTGGGTTTGGTCTCTGGGATATAGACTTTGCCAGCCAAAGGATGGAGCTTGAACTTAGCTGGCAGAACTGGAAACAGAAGATTGTAAGGAAAGGGACTGGGATCAGTGTTTCTTCTCCAGGACGGATTACCCACAGCTGTCCACGGGCAGGCACTTGTTACTTTCTGGCTGAGCAGGGCAGTGTGGCCGACGGCTGAAAGGGGAAGCTGCGGCTGCTTTTGTGCAGGGGTGGTGGTGATGAGGGTGATGTGGGGGGCTGGAAGGCATGGAGGGGAAAGGATCTGGCTGACTACCTGGAAGCCAGGACAGATCCCACCCCAGAAAGGCGCAGTAGGGGCTCTCATCCTCCACTAGCCCGCCCCTCCCTACCTAATTAAGGACCCTAATCAGCTTGGGGAGATTAAGGGCTCTGGCCGGCTGTACCCACGCCCCCGCCCTGGCCTGGGCTGGCAAGGAAGACCTGTGGGCGGGCGTCAAAAGGGGGACCGGCCCTGTGACCCCTCACCGGGGGCCGTGGGCCCGAGCCCCCGGACTTCCCTGTAAATGTCAGAGGCCCCTCCGCTGGGATAGGGTCGGTCTGAGGGCGCAGGCGAGTCCCTGCTGACCCCTGACGCCTCCGACGGGGGGAGGGGCAGGCCGGGTGGGAGCGGGAAGCCGGGGCGGCAGAAGGGGGCTTCGGGGCGGTGTCCTTGGCCCCAGTTAGTCTTCCCAGCCTCCGGAGGGGGCGGTAGCAGCAGAATCATCCCATGGGTTACTCGGGCTTGGAGAAACTCGGGGTTACGGGGAGAACCCTAGGGGAGGCCGGGGTCTCAGTCGCTCAGCCTGCTCCGTCTGTGTTCGCAGAAGCCGGCAGTGACCGCCTGCGCCCGCCGAGCGGGTGGGCTTCCGGACCCCGGGCTCTGCGGTCCCGCGTGGTGGGCTCCGTCCCTGCCCCGCCTCCCCCGGGCCCTGCCCCGGCTCCCGCTCCTGCTGCTCCTGCTTCTGCTGCAGCCCCCCGCCCTCTCCGCCGTGTTCACGGTGGGGGTCCTGGGCCCCTGGGCTTGCGACCCCATCTTCTCTCGGGCTCGCCCGGACCTGGCCGCCCGCCTGGCCGCCGCCCGCCTGAACCGCGACCCCGGCCTGGCAGGCGGTCCCCGCTTCGAGGTAGCGCTGCTGCCCGAGCCTTGCCGGACGCCGGGCTCGCTGGGGGCCGTGTCCTCCGCGCTGGCCCGCGTGTCGGGCCTCGTGGGTCCGGTGAACCCTGCGGCCTGCCGGCCAGCCGAGCTGCTCGCCGAAGAAGCCGGGATCGCGCTGGTGCCCTGGGGCTGCCCCTGGACGCAGGCGGAGGGCACCACGGCCCCTGCCGTGACCCCCGCCGCGGATGCCCTCTACGCCCTGCTTCGCGCATTCGGCTGGGCGCGCGTGGCCCTGGTCACCGCCCCCCAGGACCTGTGGGTGGAGGCGGGACGCTCACTGTCCACGGCACTCAGGGCCCGGGGCCTGCCTGTCGCCTCCGTGACTTCCATGGAGCCCTTGGACCTGTCTGGAGCCCGGGAGGCCCTGAGGAAGGTTCGGGACGGGCCCAGGGTCACAGGTAGGCTCCCTTGCAGGGTGCGAGGAGGTCGGCTGGTCCTGCCGGCAGCCGGACGGCGCCGCGAGCCAAGCCTCTGTCCGCAGCAGTGATCATGGTGATGCACTCGGTGCTGCTGGGTGGCGAGGAGCAGCGCTACCTCCTGGAGGCCGCAGAGGAGCTGGGCCTGACCGATGGCTCCCTGGTCTTCCTGCCCTTCGACACGATCCACTACGCCTTGTCCCCAGGCCCGGAGGCCTTGGCCGCACTCGCCAACAGCTCCCAGCTTCGCAGGGCCCACGATGCCGTGCTCACCCTCACGCGCCACTGTCCCTCTGAAGGCAGCGTGCTGGACAGCCTGCGCAGGGCTCAAGAGCGCCGCGAGCTGCCCTCTGACCTCAATCTGCAGCAGGTAGACGGTCCCGGGAGGAGGGAAGAAGGCAAGGGAGAGGGGAGAGGACAGCCAAAGCAGGGAGAGGAGGATGCAGCCAATGGAGAAAGAACCACTGGCAGCTCTAGCTGTTTGGAGTTTCCTGGGTAATGTAGAGGCTCTGGCCCCACTTGGGGTCTCTTAGTGTACGAGGATTGCCTCTAGAGAGTAGGCAATTCGACCTCTCAAGTCCAACATCAAGCAGTAAACTCTAATGAACTGTAAACTGCAAAACCTTTTGCAATTGGCTTCAAAGTAAACCCGTTTCCACCACCACATACTCCCAGCTGTCTAAAATAAATACTTGGTGTTCTTGAAAGCAGGAAGGAGGGAGGATGCCAATCCAACCTTCATCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTATTTCCAACATCCAGCTAATACCTAGGGATCCCCAAGTCCCCAGAATCCCAGTTCAGATCATCTAACTTTACTCCCGCCACAAAGGGGGACTAGAAACCACTATGAGAAGGGAATTTAGATGTCAACGGGCAGTGAATTAACCACCACAAAGGTCCAACTCACAGGCGGCTGCATGAGAGAAGGGTCGTAGGGGTTGCAATTTCCCATCGATGCCCCTAGATTCTTCCAAGAGGATTGGAGGTGTCCAATGGAGGGGGGAGGGGTGCAGTGATGGGAATAGTCAGAAGAGAATACAAGATAGGAATCATAATGAGATGGGATGGAGGGAGGGTCGGTCAGTGGAGAGAGGGAGGTTGAGAAAGTAGAGAGAGAAAAGCCCTTCAGCTCTCAGTAAGTACCACAGCAGTCCTCTCCACTGCCCAAACTGCGCAAGCCT 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Task1_train_23645 | The gene GUCY2D (guanylate cyclase 2D, retinal), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Leber congenital amaurosis 1 | TAAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGAATAGATTTTGTGTATGGTGTGAGATAGGGATTGAATTCTATTTTCCCCCCAGATGGCTAATCAGCTCCATTTGTTGAAGTTTATTCTTTCCCAGTTGGTAAGAAATGTCCACGTCTTCACACATTTGCTGTGTTTGTTTCAGTACTGTATATTCTATTTCATTGGTCCATTTGTTTATCCTTGTGCCAAAACTATGAAGTCTTTATTGCCATAGCTTTATAATATATATTTATATAAATATATAATTGCTGTCACTACATAATGTGGATTTATATAAATATATAATATATAATTGCTATAGCTTTATAGTATATATTTATATAATTGCTGTTTTATATATCATATAATTATATAAATATATAATTGCTATGTTTTATATATTATATATTTATGTAGATATATAATTGCTATGTTTTATATATTATATATTTACATAAATACATAATTGCTATTGCTTTATAATAAATTTGTATATCTTATAGGGCATCTTCCATTATACTCTTCTCTAAAATTGTTAGCTATTCTTGCCATCCGGGCAATTATATTCATTTTCACAACAACCCTCAGATTAAGCAATTGCCCAAGGTCCAAAAATCAGCAAGAGGGACTTGGAACCCAGGTCTGTCGGAGGCCAAAGCTCTTTTCATTACTTCCTGAGGGTGGTTTTCTAGGCATGGAGAAGCAGAGGTCAGGGAATCAAGTGTGGCGAGAGAGAGAAGAGAAGTGAAAGAAGAAAGGCAGGTGTCAGCTTGGTGTGGGTTTGGTCTCTGGGATATAGACTTTGCCAGCCAAAGGATGGAGCTTGAACTTAGCTGGCAGAACTGGAAACAGAAGATTGTAAGGAAAGGGACTGGGATCAGTGTTTCTTCTCCAGGACGGATTACCCACAGCTGTCCACGGGCAGGCACTTGTTACTTTCTGGCTGAGCAGGGCAGTGTGGCCGACGGCTGAAAGGGGAAGCTGCGGCTGCTTTTGTGCAGGGGTGGTGGTGATGAGGGTGATGTGGGGGGCTGGAAGGCATGGAGGGGAAAGGATCTGGCTGACTACCTGGAAGCCAGGACAGATCCCACCCCAGAAAGGCGCAGTAGGGGCTCTCATCCTCCACTAGCCCGCCCCTCCCTACCTAATTAAGGACCCTAATCAGCTTGGGGAGATTAAGGGCTCTGGCCGGCTGTACCCACGCCCCCGCCCTGGCCTGGGCTGGCAAGGAAGACCTGTGGGCGGGCGTCAAAAGGGGGACCGGCCCTGTGACCCCTCACCGGGGGCCGTGGGCCCGAGCCCCCGGACTTCCCTGTAAATGTCAGAGGCCCCTCCGCTGGGATAGGGTCGGTCTGAGGGCGCAGGCGAGTCCCTGCTGACCCCTGACGCCTCCGACGGGGGGAGGGGCAGGCCGGGTGGGAGCGGGAAGCCGGGGCGGCAGAAGGGGGCTTCGGGGCGGTGTCCTTGGCCCCAGTTAGTCTTCCCAGCCTCCGGAGGGGGCGGTAGCAGCAGAATCATCCCATGGGTTACTCGGGCTTGGAGAAACTCGGGGTTACGGGGAGAACCCTAGGGGAGGCCGGGGTCTCAGTCGCTCAGCCTGCTCCGTCTGTGTTCGCAGAAGCCGGCAATGACCGCCTGCGCCCGCCGAGCGGGTGGGCTTCCGGACCCCGGGCTCTGCGGTCCCGCGTGGTGGGCTCCGTCCCTGCCCCGCCTCCCCCGGGCCCTGCCCCGGCTCCCGCTCCTGCTGCTCCTGCTTCTGCTGCAGCCCCCCGCCCTCTCCGCCGTGTTCACGGTGGGGGTCCTGGGCCCCTGGGCTTGCGACCCCATCTTCTCTCGGGCTCGCCCGGACCTGGCCGCCCGCCTGGCCGCCGCCCGCCTGAACCGCGACCCCGGCCTGGCAGGCGGTCCCCGCTTCGAGGTAGCGCTGCTGCCCGAGCCTTGCCGGACGCCGGGCTCGCTGGGGGCCGTGTCCTCCGCGCTGGCCCGCGTGTCGGGCCTCGTGGGTCCGGTGAACCCTGCGGCCTGCCGGCCAGCCGAGCTGCTCGCCGAAGAAGCCGGGATCGCGCTGGTGCCCTGGGGCTGCCCCTGGACGCAGGCGGAGGGCACCACGGCCCCTGCCGTGACCCCCGCCGCGGATGCCCTCTACGCCCTGCTTCGCGCATTCGGCTGGGCGCGCGTGGCCCTGGTCACCGCCCCCCAGGACCTGTGGGTGGAGGCGGGACGCTCACTGTCCACGGCACTCAGGGCCCGGGGCCTGCCTGTCGCCTCCGTGACTTCCATGGAGCCCTTGGACCTGTCTGGAGCCCGGGAGGCCCTGAGGAAGGTTCGGGACGGGCCCAGGGTCACAGGTAGGCTCCCTTGCAGGGTGCGAGGAGGTCGGCTGGTCCTGCCGGCAGCCGGACGGCGCCGCGAGCCAAGCCTCTGTCCGCAGCAGTGATCATGGTGATGCACTCGGTGCTGCTGGGTGGCGAGGAGCAGCGCTACCTCCTGGAGGCCGCAGAGGAGCTGGGCCTGACCGATGGCTCCCTGGTCTTCCTGCCCTTCGACACGATCCACTACGCCTTGTCCCCAGGCCCGGAGGCCTTGGCCGCACTCGCCAACAGCTCCCAGCTTCGCAGGGCCCACGATGCCGTGCTCACCCTCACGCGCCACTGTCCCTCTGAAGGCAGCGTGCTGGACAGCCTGCGCAGGGCTCAAGAGCGCCGCGAGCTGCCCTCTGACCTCAATCTGCAGCAGGTAGACGGTCCCGGGAGGAGGGAAGAAGGCAAGGGAGAGGGGAGAGGACAGCCAAAGCAGGGAGAGGAGGATGCAGCCAATGGAGAAAGAACCACTGGCAGCTCTAGCTGTTTGGAGTTTCCTGGGTAATGTAGAGGCTCTGGCCCCACTTGGGGTCTCTTAGTGTACGAGGATTGCCTCTAGAGAGTAGGCAATTCGACCTCTCAAGTCCAACATCAAGCAGTAAACTCTAATGAACTGTAAACTGCAAAACCTTTTGCAATTGGCTTCAAAGTAAACCCGTTTCCACCACCACATACTCCCAGCTGTCTAAAATAAATACTTGGTGTTCTTGAAAGCAGGAAGGAGGGAGGATGCCAATCCAACCTTCATCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTATTTCCAACATCCAGCTAATACCTAGGGATCCCCAAGTCCCCAGAATCCCAGTTCAGATCATCTAACTTTACTCCCGCCACAAAGGGGGACTAGAAACCACTATGAGAAGGGAATTTAGATGTCAACGGGCAGTGAATTAACCACCACAAAGGTCCAACTCACAGGCGGCTGCATGAGAGAAGGGTCGTAGGGGTTGCAATTTCCCATCGATGCCCCTAGATTCTTCCAAGAGGATTGGAGGTGTCCAATGGAGGGGGGAGGGGTGCAGTGATGGGAATAGTCAGAAGAGAATACAAGATAGGAATCATAATGAGATGGGATGGAGGGAGGGTCGGTCAGTGGAGAGAGGGAGGTTGAGAAAGTAGAGAGAGAAAAGCCCTTCAGCTCTCAGTAAGTACCACAGCAGTCCTCTCCACTGCCCAAACTGCGCAAGCCTC 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TAAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGAATAGATTTTGTGTATGGTGTGAGATAGGGATTGAATTCTATTTTCCCCCCAGATGGCTAATCAGCTCCATTTGTTGAAGTTTATTCTTTCCCAGTTGGTAAGAAATGTCCACGTCTTCACACATTTGCTGTGTTTGTTTCAGTACTGTATATTCTATTTCATTGGTCCATTTGTTTATCCTTGTGCCAAAACTATGAAGTCTTTATTGCCATAGCTTTATAATATATATTTATATAAATATATAATTGCTGTCACTACATAATGTGGATTTATATAAATATATAATATATAATTGCTATAGCTTTATAGTATATATTTATATAATTGCTGTTTTATATATCATATAATTATATAAATATATAATTGCTATGTTTTATATATTATATATTTATGTAGATATATAATTGCTATGTTTTATATATTATATATTTACATAAATACATAATTGCTATTGCTTTATAATAAATTTGTATATCTTATAGGGCATCTTCCATTATACTCTTCTCTAAAATTGTTAGCTATTCTTGCCATCCGGGCAATTATATTCATTTTCACAACAACCCTCAGATTAAGCAATTGCCCAAGGTCCAAAAATCAGCAAGAGGGACTTGGAACCCAGGTCTGTCGGAGGCCAAAGCTCTTTTCATTACTTCCTGAGGGTGGTTTTCTAGGCATGGAGAAGCAGAGGTCAGGGAATCAAGTGTGGCGAGAGAGAGAAGAGAAGTGAAAGAAGAAAGGCAGGTGTCAGCTTGGTGTGGGTTTGGTCTCTGGGATATAGACTTTGCCAGCCAAAGGATGGAGCTTGAACTTAGCTGGCAGAACTGGAAACAGAAGATTGTAAGGAAAGGGACTGGGATCAGTGTTTCTTCTCCAGGACGGATTACCCACAGCTGTCCACGGGCAGGCACTTGTTACTTTCTGGCTGAGCAGGGCAGTGTGGCCGACGGCTGAAAGGGGAAGCTGCGGCTGCTTTTGTGCAGGGGTGGTGGTGATGAGGGTGATGTGGGGGGCTGGAAGGCATGGAGGGGAAAGGATCTGGCTGACTACCTGGAAGCCAGGACAGATCCCACCCCAGAAAGGCGCAGTAGGGGCTCTCATCCTCCACTAGCCCGCCCCTCCCTACCTAATTAAGGACCCTAATCAGCTTGGGGAGATTAAGGGCTCTGGCCGGCTGTACCCACGCCCCCGCCCTGGCCTGGGCTGGCAAGGAAGACCTGTGGGCGGGCGTCAAAAGGGGGACCGGCCCTGTGACCCCTCACCGGGGGCCGTGGGCCCGAGCCCCCGGACTTCCCTGTAAATGTCAGAGGCCCCTCCGCTGGGATAGGGTCGGTCTGAGGGCGCAGGCGAGTCCCTGCTGACCCCTGACGCCTCCGACGGGGGGAGGGGCAGGCCGGGTGGGAGCGGGAAGCCGGGGCGGCAGAAGGGGGCTTCGGGGCGGTGTCCTTGGCCCCAGTTAGTCTTCCCAGCCTCCGGAGGGGGCGGTAGCAGCAGAATCATCCCATGGGTTACTCGGGCTTGGAGAAACTCGGGGTTACGGGGAGAACCCTAGGGGAGGCCGGGGTCTCAGTCGCTCAGCCTGCTCCGTCTGTGTTCGCAGAAGCCGGCAAAGACCGCCTGCGCCCGCCGAGCGGGTGGGCTTCCGGACCCCGGGCTCTGCGGTCCCGCGTGGTGGGCTCCGTCCCTGCCCCGCCTCCCCCGGGCCCTGCCCCGGCTCCCGCTCCTGCTGCTCCTGCTTCTGCTGCAGCCCCCCGCCCTCTCCGCCGTGTTCACGGTGGGGGTCCTGGGCCCCTGGGCTTGCGACCCCATCTTCTCTCGGGCTCGCCCGGACCTGGCCGCCCGCCTGGCCGCCGCCCGCCTGAACCGCGACCCCGGCCTGGCAGGCGGTCCCCGCTTCGAGGTAGCGCTGCTGCCCGAGCCTTGCCGGACGCCGGGCTCGCTGGGGGCCGTGTCCTCCGCGCTGGCCCGCGTGTCGGGCCTCGTGGGTCCGGTGAACCCTGCGGCCTGCCGGCCAGCCGAGCTGCTCGCCGAAGAAGCCGGGATCGCGCTGGTGCCCTGGGGCTGCCCCTGGACGCAGGCGGAGGGCACCACGGCCCCTGCCGTGACCCCCGCCGCGGATGCCCTCTACGCCCTGCTTCGCGCATTCGGCTGGGCGCGCGTGGCCCTGGTCACCGCCCCCCAGGACCTGTGGGTGGAGGCGGGACGCTCACTGTCCACGGCACTCAGGGCCCGGGGCCTGCCTGTCGCCTCCGTGACTTCCATGGAGCCCTTGGACCTGTCTGGAGCCCGGGAGGCCCTGAGGAAGGTTCGGGACGGGCCCAGGGTCACAGGTAGGCTCCCTTGCAGGGTGCGAGGAGGTCGGCTGGTCCTGCCGGCAGCCGGACGGCGCCGCGAGCCAAGCCTCTGTCCGCAGCAGTGATCATGGTGATGCACTCGGTGCTGCTGGGTGGCGAGGAGCAGCGCTACCTCCTGGAGGCCGCAGAGGAGCTGGGCCTGACCGATGGCTCCCTGGTCTTCCTGCCCTTCGACACGATCCACTACGCCTTGTCCCCAGGCCCGGAGGCCTTGGCCGCACTCGCCAACAGCTCCCAGCTTCGCAGGGCCCACGATGCCGTGCTCACCCTCACGCGCCACTGTCCCTCTGAAGGCAGCGTGCTGGACAGCCTGCGCAGGGCTCAAGAGCGCCGCGAGCTGCCCTCTGACCTCAATCTGCAGCAGGTAGACGGTCCCGGGAGGAGGGAAGAAGGCAAGGGAGAGGGGAGAGGACAGCCAAAGCAGGGAGAGGAGGATGCAGCCAATGGAGAAAGAACCACTGGCAGCTCTAGCTGTTTGGAGTTTCCTGGGTAATGTAGAGGCTCTGGCCCCACTTGGGGTCTCTTAGTGTACGAGGATTGCCTCTAGAGAGTAGGCAATTCGACCTCTCAAGTCCAACATCAAGCAGTAAACTCTAATGAACTGTAAACTGCAAAACCTTTTGCAATTGGCTTCAAAGTAAACCCGTTTCCACCACCACATACTCCCAGCTGTCTAAAATAAATACTTGGTGTTCTTGAAAGCAGGAAGGAGGGAGGATGCCAATCCAACCTTCATCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTATTTCCAACATCCAGCTAATACCTAGGGATCCCCAAGTCCCCAGAATCCCAGTTCAGATCATCTAACTTTACTCCCGCCACAAAGGGGGACTAGAAACCACTATGAGAAGGGAATTTAGATGTCAACGGGCAGTGAATTAACCACCACAAAGGTCCAACTCACAGGCGGCTGCATGAGAGAAGGGTCGTAGGGGTTGCAATTTCCCATCGATGCCCCTAGATTCTTCCAAGAGGATTGGAGGTGTCCAATGGAGGGGGGAGGGGTGCAGTGATGGGAATAGTCAGAAGAGAATACAAGATAGGAATCATAATGAGATGGGATGGAGGGAGGGTCGGTCAGTGGAGAGAGGGAGGTTGAGAAAGTAGAGAGAGAAAAGCCCTTCAGCTCTCAGTAAGTACCACAGCAGTCCTCTCCACTGCCCAAACTGCGCAAGCCTC 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Task1_train_23646 | The gene GUCY2D (guanylate cyclase 2D, retinal) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; GUCY2D-related recessive retinopathy | AAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGAATAGATTTTGTGTATGGTGTGAGATAGGGATTGAATTCTATTTTCCCCCCAGATGGCTAATCAGCTCCATTTGTTGAAGTTTATTCTTTCCCAGTTGGTAAGAAATGTCCACGTCTTCACACATTTGCTGTGTTTGTTTCAGTACTGTATATTCTATTTCATTGGTCCATTTGTTTATCCTTGTGCCAAAACTATGAAGTCTTTATTGCCATAGCTTTATAATATATATTTATATAAATATATAATTGCTGTCACTACATAATGTGGATTTATATAAATATATAATATATAATTGCTATAGCTTTATAGTATATATTTATATAATTGCTGTTTTATATATCATATAATTATATAAATATATAATTGCTATGTTTTATATATTATATATTTATGTAGATATATAATTGCTATGTTTTATATATTATATATTTACATAAATACATAATTGCTATTGCTTTATAATAAATTTGTATATCTTATAGGGCATCTTCCATTATACTCTTCTCTAAAATTGTTAGCTATTCTTGCCATCCGGGCAATTATATTCATTTTCACAACAACCCTCAGATTAAGCAATTGCCCAAGGTCCAAAAATCAGCAAGAGGGACTTGGAACCCAGGTCTGTCGGAGGCCAAAGCTCTTTTCATTACTTCCTGAGGGTGGTTTTCTAGGCATGGAGAAGCAGAGGTCAGGGAATCAAGTGTGGCGAGAGAGAGAAGAGAAGTGAAAGAAGAAAGGCAGGTGTCAGCTTGGTGTGGGTTTGGTCTCTGGGATATAGACTTTGCCAGCCAAAGGATGGAGCTTGAACTTAGCTGGCAGAACTGGAAACAGAAGATTGTAAGGAAAGGGACTGGGATCAGTGTTTCTTCTCCAGGACGGATTACCCACAGCTGTCCACGGGCAGGCACTTGTTACTTTCTGGCTGAGCAGGGCAGTGTGGCCGACGGCTGAAAGGGGAAGCTGCGGCTGCTTTTGTGCAGGGGTGGTGGTGATGAGGGTGATGTGGGGGGCTGGAAGGCATGGAGGGGAAAGGATCTGGCTGACTACCTGGAAGCCAGGACAGATCCCACCCCAGAAAGGCGCAGTAGGGGCTCTCATCCTCCACTAGCCCGCCCCTCCCTACCTAATTAAGGACCCTAATCAGCTTGGGGAGATTAAGGGCTCTGGCCGGCTGTACCCACGCCCCCGCCCTGGCCTGGGCTGGCAAGGAAGACCTGTGGGCGGGCGTCAAAAGGGGGACCGGCCCTGTGACCCCTCACCGGGGGCCGTGGGCCCGAGCCCCCGGACTTCCCTGTAAATGTCAGAGGCCCCTCCGCTGGGATAGGGTCGGTCTGAGGGCGCAGGCGAGTCCCTGCTGACCCCTGACGCCTCCGACGGGGGGAGGGGCAGGCCGGGTGGGAGCGGGAAGCCGGGGCGGCAGAAGGGGGCTTCGGGGCGGTGTCCTTGGCCCCAGTTAGTCTTCCCAGCCTCCGGAGGGGGCGGTAGCAGCAGAATCATCCCATGGGTTACTCGGGCTTGGAGAAACTCGGGGTTACGGGGAGAACCCTAGGGGAGGCCGGGGTCTCAGTCGCTCAGCCTGCTCCGTCTGTGTTCGCAGAAGCCGGCAATGACCGCCTGCGCCCGCCGAGCGGGTGGGCTTCCGGACCCCGGGCTCTGCGGTCCCGCGTGGTGGGCTCCGTCCCTGCCCCGCCTCCCCCGGGCCCTGCCCCGGCTCCCGCTCCTGCTGCTCCTGCTTCTGCTGCAGCCCCCCGCCCTCTCCGCCGTGTTCACGGTGGGGGTCCTGGGCCCCTGGGCTTGCGACCCCATCTTCTCTCGGGCTCGCCCGGACCTGGCCGCCCGCCTGGCCGCCGCCCGCCTGAACCGCGACCCCGGCCTGGCAGGCGGTCCCCGCTTCGAGGTAGCGCTGCTGCCCGAGCCTTGCCGGACGCCGGGCTCGCTGGGGGCCGTGTCCTCCGCGCTGGCCCGCGTGTCGGGCCTCGTGGGTCCGGTGAACCCTGCGGCCTGCCGGCCAGCCGAGCTGCTCGCCGAAGAAGCCGGGATCGCGCTGGTGCCCTGGGGCTGCCCCTGGACGCAGGCGGAGGGCACCACGGCCCCTGCCGTGACCCCCGCCGCGGATGCCCTCTACGCCCTGCTTCGCGCATTCGGCTGGGCGCGCGTGGCCCTGGTCACCGCCCCCCAGGACCTGTGGGTGGAGGCGGGACGCTCACTGTCCACGGCACTCAGGGCCCGGGGCCTGCCTGTCGCCTCCGTGACTTCCATGGAGCCCTTGGACCTGTCTGGAGCCCGGGAGGCCCTGAGGAAGGTTCGGGACGGGCCCAGGGTCACAGGTAGGCTCCCTTGCAGGGTGCGAGGAGGTCGGCTGGTCCTGCCGGCAGCCGGACGGCGCCGCGAGCCAAGCCTCTGTCCGCAGCAGTGATCATGGTGATGCACTCGGTGCTGCTGGGTGGCGAGGAGCAGCGCTACCTCCTGGAGGCCGCAGAGGAGCTGGGCCTGACCGATGGCTCCCTGGTCTTCCTGCCCTTCGACACGATCCACTACGCCTTGTCCCCAGGCCCGGAGGCCTTGGCCGCACTCGCCAACAGCTCCCAGCTTCGCAGGGCCCACGATGCCGTGCTCACCCTCACGCGCCACTGTCCCTCTGAAGGCAGCGTGCTGGACAGCCTGCGCAGGGCTCAAGAGCGCCGCGAGCTGCCCTCTGACCTCAATCTGCAGCAGGTAGACGGTCCCGGGAGGAGGGAAGAAGGCAAGGGAGAGGGGAGAGGACAGCCAAAGCAGGGAGAGGAGGATGCAGCCAATGGAGAAAGAACCACTGGCAGCTCTAGCTGTTTGGAGTTTCCTGGGTAATGTAGAGGCTCTGGCCCCACTTGGGGTCTCTTAGTGTACGAGGATTGCCTCTAGAGAGTAGGCAATTCGACCTCTCAAGTCCAACATCAAGCAGTAAACTCTAATGAACTGTAAACTGCAAAACCTTTTGCAATTGGCTTCAAAGTAAACCCGTTTCCACCACCACATACTCCCAGCTGTCTAAAATAAATACTTGGTGTTCTTGAAAGCAGGAAGGAGGGAGGATGCCAATCCAACCTTCATCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTATTTCCAACATCCAGCTAATACCTAGGGATCCCCAAGTCCCCAGAATCCCAGTTCAGATCATCTAACTTTACTCCCGCCACAAAGGGGGACTAGAAACCACTATGAGAAGGGAATTTAGATGTCAACGGGCAGTGAATTAACCACCACAAAGGTCCAACTCACAGGCGGCTGCATGAGAGAAGGGTCGTAGGGGTTGCAATTTCCCATCGATGCCCCTAGATTCTTCCAAGAGGATTGGAGGTGTCCAATGGAGGGGGGAGGGGTGCAGTGATGGGAATAGTCAGAAGAGAATACAAGATAGGAATCATAATGAGATGGGATGGAGGGAGGGTCGGTCAGTGGAGAGAGGGAGGTTGAGAAAGTAGAGAGAGAAAAGCCCTTCAGCTCTCAGTAAGTACCACAGCAGTCCTCTCCACTGCCCAAACTGCGCAAGCCTCT 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AAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGAATAGATTTTGTGTATGGTGTGAGATAGGGATTGAATTCTATTTTCCCCCCAGATGGCTAATCAGCTCCATTTGTTGAAGTTTATTCTTTCCCAGTTGGTAAGAAATGTCCACGTCTTCACACATTTGCTGTGTTTGTTTCAGTACTGTATATTCTATTTCATTGGTCCATTTGTTTATCCTTGTGCCAAAACTATGAAGTCTTTATTGCCATAGCTTTATAATATATATTTATATAAATATATAATTGCTGTCACTACATAATGTGGATTTATATAAATATATAATATATAATTGCTATAGCTTTATAGTATATATTTATATAATTGCTGTTTTATATATCATATAATTATATAAATATATAATTGCTATGTTTTATATATTATATATTTATGTAGATATATAATTGCTATGTTTTATATATTATATATTTACATAAATACATAATTGCTATTGCTTTATAATAAATTTGTATATCTTATAGGGCATCTTCCATTATACTCTTCTCTAAAATTGTTAGCTATTCTTGCCATCCGGGCAATTATATTCATTTTCACAACAACCCTCAGATTAAGCAATTGCCCAAGGTCCAAAAATCAGCAAGAGGGACTTGGAACCCAGGTCTGTCGGAGGCCAAAGCTCTTTTCATTACTTCCTGAGGGTGGTTTTCTAGGCATGGAGAAGCAGAGGTCAGGGAATCAAGTGTGGCGAGAGAGAGAAGAGAAGTGAAAGAAGAAAGGCAGGTGTCAGCTTGGTGTGGGTTTGGTCTCTGGGATATAGACTTTGCCAGCCAAAGGATGGAGCTTGAACTTAGCTGGCAGAACTGGAAACAGAAGATTGTAAGGAAAGGGACTGGGATCAGTGTTTCTTCTCCAGGACGGATTACCCACAGCTGTCCACGGGCAGGCACTTGTTACTTTCTGGCTGAGCAGGGCAGTGTGGCCGACGGCTGAAAGGGGAAGCTGCGGCTGCTTTTGTGCAGGGGTGGTGGTGATGAGGGTGATGTGGGGGGCTGGAAGGCATGGAGGGGAAAGGATCTGGCTGACTACCTGGAAGCCAGGACAGATCCCACCCCAGAAAGGCGCAGTAGGGGCTCTCATCCTCCACTAGCCCGCCCCTCCCTACCTAATTAAGGACCCTAATCAGCTTGGGGAGATTAAGGGCTCTGGCCGGCTGTACCCACGCCCCCGCCCTGGCCTGGGCTGGCAAGGAAGACCTGTGGGCGGGCGTCAAAAGGGGGACCGGCCCTGTGACCCCTCACCGGGGGCCGTGGGCCCGAGCCCCCGGACTTCCCTGTAAATGTCAGAGGCCCCTCCGCTGGGATAGGGTCGGTCTGAGGGCGCAGGCGAGTCCCTGCTGACCCCTGACGCCTCCGACGGGGGGAGGGGCAGGCCGGGTGGGAGCGGGAAGCCGGGGCGGCAGAAGGGGGCTTCGGGGCGGTGTCCTTGGCCCCAGTTAGTCTTCCCAGCCTCCGGAGGGGGCGGTAGCAGCAGAATCATCCCATGGGTTACTCGGGCTTGGAGAAACTCGGGGTTACGGGGAGAACCCTAGGGGAGGCCGGGGTCTCAGTCGCTCAGCCTGCTCCGTCTGTGTTCGCAGAAGCCGGCAATAACCGCCTGCGCCCGCCGAGCGGGTGGGCTTCCGGACCCCGGGCTCTGCGGTCCCGCGTGGTGGGCTCCGTCCCTGCCCCGCCTCCCCCGGGCCCTGCCCCGGCTCCCGCTCCTGCTGCTCCTGCTTCTGCTGCAGCCCCCCGCCCTCTCCGCCGTGTTCACGGTGGGGGTCCTGGGCCCCTGGGCTTGCGACCCCATCTTCTCTCGGGCTCGCCCGGACCTGGCCGCCCGCCTGGCCGCCGCCCGCCTGAACCGCGACCCCGGCCTGGCAGGCGGTCCCCGCTTCGAGGTAGCGCTGCTGCCCGAGCCTTGCCGGACGCCGGGCTCGCTGGGGGCCGTGTCCTCCGCGCTGGCCCGCGTGTCGGGCCTCGTGGGTCCGGTGAACCCTGCGGCCTGCCGGCCAGCCGAGCTGCTCGCCGAAGAAGCCGGGATCGCGCTGGTGCCCTGGGGCTGCCCCTGGACGCAGGCGGAGGGCACCACGGCCCCTGCCGTGACCCCCGCCGCGGATGCCCTCTACGCCCTGCTTCGCGCATTCGGCTGGGCGCGCGTGGCCCTGGTCACCGCCCCCCAGGACCTGTGGGTGGAGGCGGGACGCTCACTGTCCACGGCACTCAGGGCCCGGGGCCTGCCTGTCGCCTCCGTGACTTCCATGGAGCCCTTGGACCTGTCTGGAGCCCGGGAGGCCCTGAGGAAGGTTCGGGACGGGCCCAGGGTCACAGGTAGGCTCCCTTGCAGGGTGCGAGGAGGTCGGCTGGTCCTGCCGGCAGCCGGACGGCGCCGCGAGCCAAGCCTCTGTCCGCAGCAGTGATCATGGTGATGCACTCGGTGCTGCTGGGTGGCGAGGAGCAGCGCTACCTCCTGGAGGCCGCAGAGGAGCTGGGCCTGACCGATGGCTCCCTGGTCTTCCTGCCCTTCGACACGATCCACTACGCCTTGTCCCCAGGCCCGGAGGCCTTGGCCGCACTCGCCAACAGCTCCCAGCTTCGCAGGGCCCACGATGCCGTGCTCACCCTCACGCGCCACTGTCCCTCTGAAGGCAGCGTGCTGGACAGCCTGCGCAGGGCTCAAGAGCGCCGCGAGCTGCCCTCTGACCTCAATCTGCAGCAGGTAGACGGTCCCGGGAGGAGGGAAGAAGGCAAGGGAGAGGGGAGAGGACAGCCAAAGCAGGGAGAGGAGGATGCAGCCAATGGAGAAAGAACCACTGGCAGCTCTAGCTGTTTGGAGTTTCCTGGGTAATGTAGAGGCTCTGGCCCCACTTGGGGTCTCTTAGTGTACGAGGATTGCCTCTAGAGAGTAGGCAATTCGACCTCTCAAGTCCAACATCAAGCAGTAAACTCTAATGAACTGTAAACTGCAAAACCTTTTGCAATTGGCTTCAAAGTAAACCCGTTTCCACCACCACATACTCCCAGCTGTCTAAAATAAATACTTGGTGTTCTTGAAAGCAGGAAGGAGGGAGGATGCCAATCCAACCTTCATCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTATTTCCAACATCCAGCTAATACCTAGGGATCCCCAAGTCCCCAGAATCCCAGTTCAGATCATCTAACTTTACTCCCGCCACAAAGGGGGACTAGAAACCACTATGAGAAGGGAATTTAGATGTCAACGGGCAGTGAATTAACCACCACAAAGGTCCAACTCACAGGCGGCTGCATGAGAGAAGGGTCGTAGGGGTTGCAATTTCCCATCGATGCCCCTAGATTCTTCCAAGAGGATTGGAGGTGTCCAATGGAGGGGGGAGGGGTGCAGTGATGGGAATAGTCAGAAGAGAATACAAGATAGGAATCATAATGAGATGGGATGGAGGGAGGGTCGGTCAGTGGAGAGAGGGAGGTTGAGAAAGTAGAGAGAGAAAAGCCCTTCAGCTCTCAGTAAGTACCACAGCAGTCCTCTCCACTGCCCAAACTGCGCAAGCCTCT 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Task1_train_23647 | A mutation found in GUCY2D (guanylate cyclase 2D, retinal) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Leber congenital amaurosis 1 | AAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGAATAGATTTTGTGTATGGTGTGAGATAGGGATTGAATTCTATTTTCCCCCCAGATGGCTAATCAGCTCCATTTGTTGAAGTTTATTCTTTCCCAGTTGGTAAGAAATGTCCACGTCTTCACACATTTGCTGTGTTTGTTTCAGTACTGTATATTCTATTTCATTGGTCCATTTGTTTATCCTTGTGCCAAAACTATGAAGTCTTTATTGCCATAGCTTTATAATATATATTTATATAAATATATAATTGCTGTCACTACATAATGTGGATTTATATAAATATATAATATATAATTGCTATAGCTTTATAGTATATATTTATATAATTGCTGTTTTATATATCATATAATTATATAAATATATAATTGCTATGTTTTATATATTATATATTTATGTAGATATATAATTGCTATGTTTTATATATTATATATTTACATAAATACATAATTGCTATTGCTTTATAATAAATTTGTATATCTTATAGGGCATCTTCCATTATACTCTTCTCTAAAATTGTTAGCTATTCTTGCCATCCGGGCAATTATATTCATTTTCACAACAACCCTCAGATTAAGCAATTGCCCAAGGTCCAAAAATCAGCAAGAGGGACTTGGAACCCAGGTCTGTCGGAGGCCAAAGCTCTTTTCATTACTTCCTGAGGGTGGTTTTCTAGGCATGGAGAAGCAGAGGTCAGGGAATCAAGTGTGGCGAGAGAGAGAAGAGAAGTGAAAGAAGAAAGGCAGGTGTCAGCTTGGTGTGGGTTTGGTCTCTGGGATATAGACTTTGCCAGCCAAAGGATGGAGCTTGAACTTAGCTGGCAGAACTGGAAACAGAAGATTGTAAGGAAAGGGACTGGGATCAGTGTTTCTTCTCCAGGACGGATTACCCACAGCTGTCCACGGGCAGGCACTTGTTACTTTCTGGCTGAGCAGGGCAGTGTGGCCGACGGCTGAAAGGGGAAGCTGCGGCTGCTTTTGTGCAGGGGTGGTGGTGATGAGGGTGATGTGGGGGGCTGGAAGGCATGGAGGGGAAAGGATCTGGCTGACTACCTGGAAGCCAGGACAGATCCCACCCCAGAAAGGCGCAGTAGGGGCTCTCATCCTCCACTAGCCCGCCCCTCCCTACCTAATTAAGGACCCTAATCAGCTTGGGGAGATTAAGGGCTCTGGCCGGCTGTACCCACGCCCCCGCCCTGGCCTGGGCTGGCAAGGAAGACCTGTGGGCGGGCGTCAAAAGGGGGACCGGCCCTGTGACCCCTCACCGGGGGCCGTGGGCCCGAGCCCCCGGACTTCCCTGTAAATGTCAGAGGCCCCTCCGCTGGGATAGGGTCGGTCTGAGGGCGCAGGCGAGTCCCTGCTGACCCCTGACGCCTCCGACGGGGGGAGGGGCAGGCCGGGTGGGAGCGGGAAGCCGGGGCGGCAGAAGGGGGCTTCGGGGCGGTGTCCTTGGCCCCAGTTAGTCTTCCCAGCCTCCGGAGGGGGCGGTAGCAGCAGAATCATCCCATGGGTTACTCGGGCTTGGAGAAACTCGGGGTTACGGGGAGAACCCTAGGGGAGGCCGGGGTCTCAGTCGCTCAGCCTGCTCCGTCTGTGTTCGCAGAAGCCGGCAATGACCGCCTGCGCCCGCCGAGCGGGTGGGCTTCCGGACCCCGGGCTCTGCGGTCCCGCGTGGTGGGCTCCGTCCCTGCCCCGCCTCCCCCGGGCCCTGCCCCGGCTCCCGCTCCTGCTGCTCCTGCTTCTGCTGCAGCCCCCCGCCCTCTCCGCCGTGTTCACGGTGGGGGTCCTGGGCCCCTGGGCTTGCGACCCCATCTTCTCTCGGGCTCGCCCGGACCTGGCCGCCCGCCTGGCCGCCGCCCGCCTGAACCGCGACCCCGGCCTGGCAGGCGGTCCCCGCTTCGAGGTAGCGCTGCTGCCCGAGCCTTGCCGGACGCCGGGCTCGCTGGGGGCCGTGTCCTCCGCGCTGGCCCGCGTGTCGGGCCTCGTGGGTCCGGTGAACCCTGCGGCCTGCCGGCCAGCCGAGCTGCTCGCCGAAGAAGCCGGGATCGCGCTGGTGCCCTGGGGCTGCCCCTGGACGCAGGCGGAGGGCACCACGGCCCCTGCCGTGACCCCCGCCGCGGATGCCCTCTACGCCCTGCTTCGCGCATTCGGCTGGGCGCGCGTGGCCCTGGTCACCGCCCCCCAGGACCTGTGGGTGGAGGCGGGACGCTCACTGTCCACGGCACTCAGGGCCCGGGGCCTGCCTGTCGCCTCCGTGACTTCCATGGAGCCCTTGGACCTGTCTGGAGCCCGGGAGGCCCTGAGGAAGGTTCGGGACGGGCCCAGGGTCACAGGTAGGCTCCCTTGCAGGGTGCGAGGAGGTCGGCTGGTCCTGCCGGCAGCCGGACGGCGCCGCGAGCCAAGCCTCTGTCCGCAGCAGTGATCATGGTGATGCACTCGGTGCTGCTGGGTGGCGAGGAGCAGCGCTACCTCCTGGAGGCCGCAGAGGAGCTGGGCCTGACCGATGGCTCCCTGGTCTTCCTGCCCTTCGACACGATCCACTACGCCTTGTCCCCAGGCCCGGAGGCCTTGGCCGCACTCGCCAACAGCTCCCAGCTTCGCAGGGCCCACGATGCCGTGCTCACCCTCACGCGCCACTGTCCCTCTGAAGGCAGCGTGCTGGACAGCCTGCGCAGGGCTCAAGAGCGCCGCGAGCTGCCCTCTGACCTCAATCTGCAGCAGGTAGACGGTCCCGGGAGGAGGGAAGAAGGCAAGGGAGAGGGGAGAGGACAGCCAAAGCAGGGAGAGGAGGATGCAGCCAATGGAGAAAGAACCACTGGCAGCTCTAGCTGTTTGGAGTTTCCTGGGTAATGTAGAGGCTCTGGCCCCACTTGGGGTCTCTTAGTGTACGAGGATTGCCTCTAGAGAGTAGGCAATTCGACCTCTCAAGTCCAACATCAAGCAGTAAACTCTAATGAACTGTAAACTGCAAAACCTTTTGCAATTGGCTTCAAAGTAAACCCGTTTCCACCACCACATACTCCCAGCTGTCTAAAATAAATACTTGGTGTTCTTGAAAGCAGGAAGGAGGGAGGATGCCAATCCAACCTTCATCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTATTTCCAACATCCAGCTAATACCTAGGGATCCCCAAGTCCCCAGAATCCCAGTTCAGATCATCTAACTTTACTCCCGCCACAAAGGGGGACTAGAAACCACTATGAGAAGGGAATTTAGATGTCAACGGGCAGTGAATTAACCACCACAAAGGTCCAACTCACAGGCGGCTGCATGAGAGAAGGGTCGTAGGGGTTGCAATTTCCCATCGATGCCCCTAGATTCTTCCAAGAGGATTGGAGGTGTCCAATGGAGGGGGGAGGGGTGCAGTGATGGGAATAGTCAGAAGAGAATACAAGATAGGAATCATAATGAGATGGGATGGAGGGAGGGTCGGTCAGTGGAGAGAGGGAGGTTGAGAAAGTAGAGAGAGAAAAGCCCTTCAGCTCTCAGTAAGTACCACAGCAGTCCTCTCCACTGCCCAAACTGCGCAAGCCTCT 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AAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGAATAGATTTTGTGTATGGTGTGAGATAGGGATTGAATTCTATTTTCCCCCCAGATGGCTAATCAGCTCCATTTGTTGAAGTTTATTCTTTCCCAGTTGGTAAGAAATGTCCACGTCTTCACACATTTGCTGTGTTTGTTTCAGTACTGTATATTCTATTTCATTGGTCCATTTGTTTATCCTTGTGCCAAAACTATGAAGTCTTTATTGCCATAGCTTTATAATATATATTTATATAAATATATAATTGCTGTCACTACATAATGTGGATTTATATAAATATATAATATATAATTGCTATAGCTTTATAGTATATATTTATATAATTGCTGTTTTATATATCATATAATTATATAAATATATAATTGCTATGTTTTATATATTATATATTTATGTAGATATATAATTGCTATGTTTTATATATTATATATTTACATAAATACATAATTGCTATTGCTTTATAATAAATTTGTATATCTTATAGGGCATCTTCCATTATACTCTTCTCTAAAATTGTTAGCTATTCTTGCCATCCGGGCAATTATATTCATTTTCACAACAACCCTCAGATTAAGCAATTGCCCAAGGTCCAAAAATCAGCAAGAGGGACTTGGAACCCAGGTCTGTCGGAGGCCAAAGCTCTTTTCATTACTTCCTGAGGGTGGTTTTCTAGGCATGGAGAAGCAGAGGTCAGGGAATCAAGTGTGGCGAGAGAGAGAAGAGAAGTGAAAGAAGAAAGGCAGGTGTCAGCTTGGTGTGGGTTTGGTCTCTGGGATATAGACTTTGCCAGCCAAAGGATGGAGCTTGAACTTAGCTGGCAGAACTGGAAACAGAAGATTGTAAGGAAAGGGACTGGGATCAGTGTTTCTTCTCCAGGACGGATTACCCACAGCTGTCCACGGGCAGGCACTTGTTACTTTCTGGCTGAGCAGGGCAGTGTGGCCGACGGCTGAAAGGGGAAGCTGCGGCTGCTTTTGTGCAGGGGTGGTGGTGATGAGGGTGATGTGGGGGGCTGGAAGGCATGGAGGGGAAAGGATCTGGCTGACTACCTGGAAGCCAGGACAGATCCCACCCCAGAAAGGCGCAGTAGGGGCTCTCATCCTCCACTAGCCCGCCCCTCCCTACCTAATTAAGGACCCTAATCAGCTTGGGGAGATTAAGGGCTCTGGCCGGCTGTACCCACGCCCCCGCCCTGGCCTGGGCTGGCAAGGAAGACCTGTGGGCGGGCGTCAAAAGGGGGACCGGCCCTGTGACCCCTCACCGGGGGCCGTGGGCCCGAGCCCCCGGACTTCCCTGTAAATGTCAGAGGCCCCTCCGCTGGGATAGGGTCGGTCTGAGGGCGCAGGCGAGTCCCTGCTGACCCCTGACGCCTCCGACGGGGGGAGGGGCAGGCCGGGTGGGAGCGGGAAGCCGGGGCGGCAGAAGGGGGCTTCGGGGCGGTGTCCTTGGCCCCAGTTAGTCTTCCCAGCCTCCGGAGGGGGCGGTAGCAGCAGAATCATCCCATGGGTTACTCGGGCTTGGAGAAACTCGGGGTTACGGGGAGAACCCTAGGGGAGGCCGGGGTCTCAGTCGCTCAGCCTGCTCCGTCTGTGTTCGCAGAAGCCGGCAATCACCGCCTGCGCCCGCCGAGCGGGTGGGCTTCCGGACCCCGGGCTCTGCGGTCCCGCGTGGTGGGCTCCGTCCCTGCCCCGCCTCCCCCGGGCCCTGCCCCGGCTCCCGCTCCTGCTGCTCCTGCTTCTGCTGCAGCCCCCCGCCCTCTCCGCCGTGTTCACGGTGGGGGTCCTGGGCCCCTGGGCTTGCGACCCCATCTTCTCTCGGGCTCGCCCGGACCTGGCCGCCCGCCTGGCCGCCGCCCGCCTGAACCGCGACCCCGGCCTGGCAGGCGGTCCCCGCTTCGAGGTAGCGCTGCTGCCCGAGCCTTGCCGGACGCCGGGCTCGCTGGGGGCCGTGTCCTCCGCGCTGGCCCGCGTGTCGGGCCTCGTGGGTCCGGTGAACCCTGCGGCCTGCCGGCCAGCCGAGCTGCTCGCCGAAGAAGCCGGGATCGCGCTGGTGCCCTGGGGCTGCCCCTGGACGCAGGCGGAGGGCACCACGGCCCCTGCCGTGACCCCCGCCGCGGATGCCCTCTACGCCCTGCTTCGCGCATTCGGCTGGGCGCGCGTGGCCCTGGTCACCGCCCCCCAGGACCTGTGGGTGGAGGCGGGACGCTCACTGTCCACGGCACTCAGGGCCCGGGGCCTGCCTGTCGCCTCCGTGACTTCCATGGAGCCCTTGGACCTGTCTGGAGCCCGGGAGGCCCTGAGGAAGGTTCGGGACGGGCCCAGGGTCACAGGTAGGCTCCCTTGCAGGGTGCGAGGAGGTCGGCTGGTCCTGCCGGCAGCCGGACGGCGCCGCGAGCCAAGCCTCTGTCCGCAGCAGTGATCATGGTGATGCACTCGGTGCTGCTGGGTGGCGAGGAGCAGCGCTACCTCCTGGAGGCCGCAGAGGAGCTGGGCCTGACCGATGGCTCCCTGGTCTTCCTGCCCTTCGACACGATCCACTACGCCTTGTCCCCAGGCCCGGAGGCCTTGGCCGCACTCGCCAACAGCTCCCAGCTTCGCAGGGCCCACGATGCCGTGCTCACCCTCACGCGCCACTGTCCCTCTGAAGGCAGCGTGCTGGACAGCCTGCGCAGGGCTCAAGAGCGCCGCGAGCTGCCCTCTGACCTCAATCTGCAGCAGGTAGACGGTCCCGGGAGGAGGGAAGAAGGCAAGGGAGAGGGGAGAGGACAGCCAAAGCAGGGAGAGGAGGATGCAGCCAATGGAGAAAGAACCACTGGCAGCTCTAGCTGTTTGGAGTTTCCTGGGTAATGTAGAGGCTCTGGCCCCACTTGGGGTCTCTTAGTGTACGAGGATTGCCTCTAGAGAGTAGGCAATTCGACCTCTCAAGTCCAACATCAAGCAGTAAACTCTAATGAACTGTAAACTGCAAAACCTTTTGCAATTGGCTTCAAAGTAAACCCGTTTCCACCACCACATACTCCCAGCTGTCTAAAATAAATACTTGGTGTTCTTGAAAGCAGGAAGGAGGGAGGATGCCAATCCAACCTTCATCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTATTTCCAACATCCAGCTAATACCTAGGGATCCCCAAGTCCCCAGAATCCCAGTTCAGATCATCTAACTTTACTCCCGCCACAAAGGGGGACTAGAAACCACTATGAGAAGGGAATTTAGATGTCAACGGGCAGTGAATTAACCACCACAAAGGTCCAACTCACAGGCGGCTGCATGAGAGAAGGGTCGTAGGGGTTGCAATTTCCCATCGATGCCCCTAGATTCTTCCAAGAGGATTGGAGGTGTCCAATGGAGGGGGGAGGGGTGCAGTGATGGGAATAGTCAGAAGAGAATACAAGATAGGAATCATAATGAGATGGGATGGAGGGAGGGTCGGTCAGTGGAGAGAGGGAGGTTGAGAAAGTAGAGAGAGAAAAGCCCTTCAGCTCTCAGTAAGTACCACAGCAGTCCTCTCCACTGCCCAAACTGCGCAAGCCTCT 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Task1_train_23648 | A mutation found in GUCY2D (guanylate cyclase 2D, retinal) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Cone-rod dystrophy 6 | AAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGAATAGATTTTGTGTATGGTGTGAGATAGGGATTGAATTCTATTTTCCCCCCAGATGGCTAATCAGCTCCATTTGTTGAAGTTTATTCTTTCCCAGTTGGTAAGAAATGTCCACGTCTTCACACATTTGCTGTGTTTGTTTCAGTACTGTATATTCTATTTCATTGGTCCATTTGTTTATCCTTGTGCCAAAACTATGAAGTCTTTATTGCCATAGCTTTATAATATATATTTATATAAATATATAATTGCTGTCACTACATAATGTGGATTTATATAAATATATAATATATAATTGCTATAGCTTTATAGTATATATTTATATAATTGCTGTTTTATATATCATATAATTATATAAATATATAATTGCTATGTTTTATATATTATATATTTATGTAGATATATAATTGCTATGTTTTATATATTATATATTTACATAAATACATAATTGCTATTGCTTTATAATAAATTTGTATATCTTATAGGGCATCTTCCATTATACTCTTCTCTAAAATTGTTAGCTATTCTTGCCATCCGGGCAATTATATTCATTTTCACAACAACCCTCAGATTAAGCAATTGCCCAAGGTCCAAAAATCAGCAAGAGGGACTTGGAACCCAGGTCTGTCGGAGGCCAAAGCTCTTTTCATTACTTCCTGAGGGTGGTTTTCTAGGCATGGAGAAGCAGAGGTCAGGGAATCAAGTGTGGCGAGAGAGAGAAGAGAAGTGAAAGAAGAAAGGCAGGTGTCAGCTTGGTGTGGGTTTGGTCTCTGGGATATAGACTTTGCCAGCCAAAGGATGGAGCTTGAACTTAGCTGGCAGAACTGGAAACAGAAGATTGTAAGGAAAGGGACTGGGATCAGTGTTTCTTCTCCAGGACGGATTACCCACAGCTGTCCACGGGCAGGCACTTGTTACTTTCTGGCTGAGCAGGGCAGTGTGGCCGACGGCTGAAAGGGGAAGCTGCGGCTGCTTTTGTGCAGGGGTGGTGGTGATGAGGGTGATGTGGGGGGCTGGAAGGCATGGAGGGGAAAGGATCTGGCTGACTACCTGGAAGCCAGGACAGATCCCACCCCAGAAAGGCGCAGTAGGGGCTCTCATCCTCCACTAGCCCGCCCCTCCCTACCTAATTAAGGACCCTAATCAGCTTGGGGAGATTAAGGGCTCTGGCCGGCTGTACCCACGCCCCCGCCCTGGCCTGGGCTGGCAAGGAAGACCTGTGGGCGGGCGTCAAAAGGGGGACCGGCCCTGTGACCCCTCACCGGGGGCCGTGGGCCCGAGCCCCCGGACTTCCCTGTAAATGTCAGAGGCCCCTCCGCTGGGATAGGGTCGGTCTGAGGGCGCAGGCGAGTCCCTGCTGACCCCTGACGCCTCCGACGGGGGGAGGGGCAGGCCGGGTGGGAGCGGGAAGCCGGGGCGGCAGAAGGGGGCTTCGGGGCGGTGTCCTTGGCCCCAGTTAGTCTTCCCAGCCTCCGGAGGGGGCGGTAGCAGCAGAATCATCCCATGGGTTACTCGGGCTTGGAGAAACTCGGGGTTACGGGGAGAACCCTAGGGGAGGCCGGGGTCTCAGTCGCTCAGCCTGCTCCGTCTGTGTTCGCAGAAGCCGGCAATGACCGCCTGCGCCCGCCGAGCGGGTGGGCTTCCGGACCCCGGGCTCTGCGGTCCCGCGTGGTGGGCTCCGTCCCTGCCCCGCCTCCCCCGGGCCCTGCCCCGGCTCCCGCTCCTGCTGCTCCTGCTTCTGCTGCAGCCCCCCGCCCTCTCCGCCGTGTTCACGGTGGGGGTCCTGGGCCCCTGGGCTTGCGACCCCATCTTCTCTCGGGCTCGCCCGGACCTGGCCGCCCGCCTGGCCGCCGCCCGCCTGAACCGCGACCCCGGCCTGGCAGGCGGTCCCCGCTTCGAGGTAGCGCTGCTGCCCGAGCCTTGCCGGACGCCGGGCTCGCTGGGGGCCGTGTCCTCCGCGCTGGCCCGCGTGTCGGGCCTCGTGGGTCCGGTGAACCCTGCGGCCTGCCGGCCAGCCGAGCTGCTCGCCGAAGAAGCCGGGATCGCGCTGGTGCCCTGGGGCTGCCCCTGGACGCAGGCGGAGGGCACCACGGCCCCTGCCGTGACCCCCGCCGCGGATGCCCTCTACGCCCTGCTTCGCGCATTCGGCTGGGCGCGCGTGGCCCTGGTCACCGCCCCCCAGGACCTGTGGGTGGAGGCGGGACGCTCACTGTCCACGGCACTCAGGGCCCGGGGCCTGCCTGTCGCCTCCGTGACTTCCATGGAGCCCTTGGACCTGTCTGGAGCCCGGGAGGCCCTGAGGAAGGTTCGGGACGGGCCCAGGGTCACAGGTAGGCTCCCTTGCAGGGTGCGAGGAGGTCGGCTGGTCCTGCCGGCAGCCGGACGGCGCCGCGAGCCAAGCCTCTGTCCGCAGCAGTGATCATGGTGATGCACTCGGTGCTGCTGGGTGGCGAGGAGCAGCGCTACCTCCTGGAGGCCGCAGAGGAGCTGGGCCTGACCGATGGCTCCCTGGTCTTCCTGCCCTTCGACACGATCCACTACGCCTTGTCCCCAGGCCCGGAGGCCTTGGCCGCACTCGCCAACAGCTCCCAGCTTCGCAGGGCCCACGATGCCGTGCTCACCCTCACGCGCCACTGTCCCTCTGAAGGCAGCGTGCTGGACAGCCTGCGCAGGGCTCAAGAGCGCCGCGAGCTGCCCTCTGACCTCAATCTGCAGCAGGTAGACGGTCCCGGGAGGAGGGAAGAAGGCAAGGGAGAGGGGAGAGGACAGCCAAAGCAGGGAGAGGAGGATGCAGCCAATGGAGAAAGAACCACTGGCAGCTCTAGCTGTTTGGAGTTTCCTGGGTAATGTAGAGGCTCTGGCCCCACTTGGGGTCTCTTAGTGTACGAGGATTGCCTCTAGAGAGTAGGCAATTCGACCTCTCAAGTCCAACATCAAGCAGTAAACTCTAATGAACTGTAAACTGCAAAACCTTTTGCAATTGGCTTCAAAGTAAACCCGTTTCCACCACCACATACTCCCAGCTGTCTAAAATAAATACTTGGTGTTCTTGAAAGCAGGAAGGAGGGAGGATGCCAATCCAACCTTCATCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTATTTCCAACATCCAGCTAATACCTAGGGATCCCCAAGTCCCCAGAATCCCAGTTCAGATCATCTAACTTTACTCCCGCCACAAAGGGGGACTAGAAACCACTATGAGAAGGGAATTTAGATGTCAACGGGCAGTGAATTAACCACCACAAAGGTCCAACTCACAGGCGGCTGCATGAGAGAAGGGTCGTAGGGGTTGCAATTTCCCATCGATGCCCCTAGATTCTTCCAAGAGGATTGGAGGTGTCCAATGGAGGGGGGAGGGGTGCAGTGATGGGAATAGTCAGAAGAGAATACAAGATAGGAATCATAATGAGATGGGATGGAGGGAGGGTCGGTCAGTGGAGAGAGGGAGGTTGAGAAAGTAGAGAGAGAAAAGCCCTTCAGCTCTCAGTAAGTACCACAGCAGTCCTCTCCACTGCCCAAACTGCGCAAGCCTCT 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AAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGAATAGATTTTGTGTATGGTGTGAGATAGGGATTGAATTCTATTTTCCCCCCAGATGGCTAATCAGCTCCATTTGTTGAAGTTTATTCTTTCCCAGTTGGTAAGAAATGTCCACGTCTTCACACATTTGCTGTGTTTGTTTCAGTACTGTATATTCTATTTCATTGGTCCATTTGTTTATCCTTGTGCCAAAACTATGAAGTCTTTATTGCCATAGCTTTATAATATATATTTATATAAATATATAATTGCTGTCACTACATAATGTGGATTTATATAAATATATAATATATAATTGCTATAGCTTTATAGTATATATTTATATAATTGCTGTTTTATATATCATATAATTATATAAATATATAATTGCTATGTTTTATATATTATATATTTATGTAGATATATAATTGCTATGTTTTATATATTATATATTTACATAAATACATAATTGCTATTGCTTTATAATAAATTTGTATATCTTATAGGGCATCTTCCATTATACTCTTCTCTAAAATTGTTAGCTATTCTTGCCATCCGGGCAATTATATTCATTTTCACAACAACCCTCAGATTAAGCAATTGCCCAAGGTCCAAAAATCAGCAAGAGGGACTTGGAACCCAGGTCTGTCGGAGGCCAAAGCTCTTTTCATTACTTCCTGAGGGTGGTTTTCTAGGCATGGAGAAGCAGAGGTCAGGGAATCAAGTGTGGCGAGAGAGAGAAGAGAAGTGAAAGAAGAAAGGCAGGTGTCAGCTTGGTGTGGGTTTGGTCTCTGGGATATAGACTTTGCCAGCCAAAGGATGGAGCTTGAACTTAGCTGGCAGAACTGGAAACAGAAGATTGTAAGGAAAGGGACTGGGATCAGTGTTTCTTCTCCAGGACGGATTACCCACAGCTGTCCACGGGCAGGCACTTGTTACTTTCTGGCTGAGCAGGGCAGTGTGGCCGACGGCTGAAAGGGGAAGCTGCGGCTGCTTTTGTGCAGGGGTGGTGGTGATGAGGGTGATGTGGGGGGCTGGAAGGCATGGAGGGGAAAGGATCTGGCTGACTACCTGGAAGCCAGGACAGATCCCACCCCAGAAAGGCGCAGTAGGGGCTCTCATCCTCCACTAGCCCGCCCCTCCCTACCTAATTAAGGACCCTAATCAGCTTGGGGAGATTAAGGGCTCTGGCCGGCTGTACCCACGCCCCCGCCCTGGCCTGGGCTGGCAAGGAAGACCTGTGGGCGGGCGTCAAAAGGGGGACCGGCCCTGTGACCCCTCACCGGGGGCCGTGGGCCCGAGCCCCCGGACTTCCCTGTAAATGTCAGAGGCCCCTCCGCTGGGATAGGGTCGGTCTGAGGGCGCAGGCGAGTCCCTGCTGACCCCTGACGCCTCCGACGGGGGGAGGGGCAGGCCGGGTGGGAGCGGGAAGCCGGGGCGGCAGAAGGGGGCTTCGGGGCGGTGTCCTTGGCCCCAGTTAGTCTTCCCAGCCTCCGGAGGGGGCGGTAGCAGCAGAATCATCCCATGGGTTACTCGGGCTTGGAGAAACTCGGGGTTACGGGGAGAACCCTAGGGGAGGCCGGGGTCTCAGTCGCTCAGCCTGCTCCGTCTGTGTTCGCAGAAGCCGGCAATCACCGCCTGCGCCCGCCGAGCGGGTGGGCTTCCGGACCCCGGGCTCTGCGGTCCCGCGTGGTGGGCTCCGTCCCTGCCCCGCCTCCCCCGGGCCCTGCCCCGGCTCCCGCTCCTGCTGCTCCTGCTTCTGCTGCAGCCCCCCGCCCTCTCCGCCGTGTTCACGGTGGGGGTCCTGGGCCCCTGGGCTTGCGACCCCATCTTCTCTCGGGCTCGCCCGGACCTGGCCGCCCGCCTGGCCGCCGCCCGCCTGAACCGCGACCCCGGCCTGGCAGGCGGTCCCCGCTTCGAGGTAGCGCTGCTGCCCGAGCCTTGCCGGACGCCGGGCTCGCTGGGGGCCGTGTCCTCCGCGCTGGCCCGCGTGTCGGGCCTCGTGGGTCCGGTGAACCCTGCGGCCTGCCGGCCAGCCGAGCTGCTCGCCGAAGAAGCCGGGATCGCGCTGGTGCCCTGGGGCTGCCCCTGGACGCAGGCGGAGGGCACCACGGCCCCTGCCGTGACCCCCGCCGCGGATGCCCTCTACGCCCTGCTTCGCGCATTCGGCTGGGCGCGCGTGGCCCTGGTCACCGCCCCCCAGGACCTGTGGGTGGAGGCGGGACGCTCACTGTCCACGGCACTCAGGGCCCGGGGCCTGCCTGTCGCCTCCGTGACTTCCATGGAGCCCTTGGACCTGTCTGGAGCCCGGGAGGCCCTGAGGAAGGTTCGGGACGGGCCCAGGGTCACAGGTAGGCTCCCTTGCAGGGTGCGAGGAGGTCGGCTGGTCCTGCCGGCAGCCGGACGGCGCCGCGAGCCAAGCCTCTGTCCGCAGCAGTGATCATGGTGATGCACTCGGTGCTGCTGGGTGGCGAGGAGCAGCGCTACCTCCTGGAGGCCGCAGAGGAGCTGGGCCTGACCGATGGCTCCCTGGTCTTCCTGCCCTTCGACACGATCCACTACGCCTTGTCCCCAGGCCCGGAGGCCTTGGCCGCACTCGCCAACAGCTCCCAGCTTCGCAGGGCCCACGATGCCGTGCTCACCCTCACGCGCCACTGTCCCTCTGAAGGCAGCGTGCTGGACAGCCTGCGCAGGGCTCAAGAGCGCCGCGAGCTGCCCTCTGACCTCAATCTGCAGCAGGTAGACGGTCCCGGGAGGAGGGAAGAAGGCAAGGGAGAGGGGAGAGGACAGCCAAAGCAGGGAGAGGAGGATGCAGCCAATGGAGAAAGAACCACTGGCAGCTCTAGCTGTTTGGAGTTTCCTGGGTAATGTAGAGGCTCTGGCCCCACTTGGGGTCTCTTAGTGTACGAGGATTGCCTCTAGAGAGTAGGCAATTCGACCTCTCAAGTCCAACATCAAGCAGTAAACTCTAATGAACTGTAAACTGCAAAACCTTTTGCAATTGGCTTCAAAGTAAACCCGTTTCCACCACCACATACTCCCAGCTGTCTAAAATAAATACTTGGTGTTCTTGAAAGCAGGAAGGAGGGAGGATGCCAATCCAACCTTCATCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTATTTCCAACATCCAGCTAATACCTAGGGATCCCCAAGTCCCCAGAATCCCAGTTCAGATCATCTAACTTTACTCCCGCCACAAAGGGGGACTAGAAACCACTATGAGAAGGGAATTTAGATGTCAACGGGCAGTGAATTAACCACCACAAAGGTCCAACTCACAGGCGGCTGCATGAGAGAAGGGTCGTAGGGGTTGCAATTTCCCATCGATGCCCCTAGATTCTTCCAAGAGGATTGGAGGTGTCCAATGGAGGGGGGAGGGGTGCAGTGATGGGAATAGTCAGAAGAGAATACAAGATAGGAATCATAATGAGATGGGATGGAGGGAGGGTCGGTCAGTGGAGAGAGGGAGGTTGAGAAAGTAGAGAGAGAAAAGCCCTTCAGCTCTCAGTAAGTACCACAGCAGTCCTCTCCACTGCCCAAACTGCGCAAGCCTCT 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Task1_train_23649 | A variant was discovered on Chromosome 17, affecting GUCY2D (guanylate cyclase 2D, retinal). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Night blindness, congenital stationary, type1i | CTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGAATAGATTTTGTGTATGGTGTGAGATAGGGATTGAATTCTATTTTCCCCCCAGATGGCTAATCAGCTCCATTTGTTGAAGTTTATTCTTTCCCAGTTGGTAAGAAATGTCCACGTCTTCACACATTTGCTGTGTTTGTTTCAGTACTGTATATTCTATTTCATTGGTCCATTTGTTTATCCTTGTGCCAAAACTATGAAGTCTTTATTGCCATAGCTTTATAATATATATTTATATAAATATATAATTGCTGTCACTACATAATGTGGATTTATATAAATATATAATATATAATTGCTATAGCTTTATAGTATATATTTATATAATTGCTGTTTTATATATCATATAATTATATAAATATATAATTGCTATGTTTTATATATTATATATTTATGTAGATATATAATTGCTATGTTTTATATATTATATATTTACATAAATACATAATTGCTATTGCTTTATAATAAATTTGTATATCTTATAGGGCATCTTCCATTATACTCTTCTCTAAAATTGTTAGCTATTCTTGCCATCCGGGCAATTATATTCATTTTCACAACAACCCTCAGATTAAGCAATTGCCCAAGGTCCAAAAATCAGCAAGAGGGACTTGGAACCCAGGTCTGTCGGAGGCCAAAGCTCTTTTCATTACTTCCTGAGGGTGGTTTTCTAGGCATGGAGAAGCAGAGGTCAGGGAATCAAGTGTGGCGAGAGAGAGAAGAGAAGTGAAAGAAGAAAGGCAGGTGTCAGCTTGGTGTGGGTTTGGTCTCTGGGATATAGACTTTGCCAGCCAAAGGATGGAGCTTGAACTTAGCTGGCAGAACTGGAAACAGAAGATTGTAAGGAAAGGGACTGGGATCAGTGTTTCTTCTCCAGGACGGATTACCCACAGCTGTCCACGGGCAGGCACTTGTTACTTTCTGGCTGAGCAGGGCAGTGTGGCCGACGGCTGAAAGGGGAAGCTGCGGCTGCTTTTGTGCAGGGGTGGTGGTGATGAGGGTGATGTGGGGGGCTGGAAGGCATGGAGGGGAAAGGATCTGGCTGACTACCTGGAAGCCAGGACAGATCCCACCCCAGAAAGGCGCAGTAGGGGCTCTCATCCTCCACTAGCCCGCCCCTCCCTACCTAATTAAGGACCCTAATCAGCTTGGGGAGATTAAGGGCTCTGGCCGGCTGTACCCACGCCCCCGCCCTGGCCTGGGCTGGCAAGGAAGACCTGTGGGCGGGCGTCAAAAGGGGGACCGGCCCTGTGACCCCTCACCGGGGGCCGTGGGCCCGAGCCCCCGGACTTCCCTGTAAATGTCAGAGGCCCCTCCGCTGGGATAGGGTCGGTCTGAGGGCGCAGGCGAGTCCCTGCTGACCCCTGACGCCTCCGACGGGGGGAGGGGCAGGCCGGGTGGGAGCGGGAAGCCGGGGCGGCAGAAGGGGGCTTCGGGGCGGTGTCCTTGGCCCCAGTTAGTCTTCCCAGCCTCCGGAGGGGGCGGTAGCAGCAGAATCATCCCATGGGTTACTCGGGCTTGGAGAAACTCGGGGTTACGGGGAGAACCCTAGGGGAGGCCGGGGTCTCAGTCGCTCAGCCTGCTCCGTCTGTGTTCGCAGAAGCCGGCAATGACCGCCTGCGCCCGCCGAGCGGGTGGGCTTCCGGACCCCGGGCTCTGCGGTCCCGCGTGGTGGGCTCCGTCCCTGCCCCGCCTCCCCCGGGCCCTGCCCCGGCTCCCGCTCCTGCTGCTCCTGCTTCTGCTGCAGCCCCCCGCCCTCTCCGCCGTGTTCACGGTGGGGGTCCTGGGCCCCTGGGCTTGCGACCCCATCTTCTCTCGGGCTCGCCCGGACCTGGCCGCCCGCCTGGCCGCCGCCCGCCTGAACCGCGACCCCGGCCTGGCAGGCGGTCCCCGCTTCGAGGTAGCGCTGCTGCCCGAGCCTTGCCGGACGCCGGGCTCGCTGGGGGCCGTGTCCTCCGCGCTGGCCCGCGTGTCGGGCCTCGTGGGTCCGGTGAACCCTGCGGCCTGCCGGCCAGCCGAGCTGCTCGCCGAAGAAGCCGGGATCGCGCTGGTGCCCTGGGGCTGCCCCTGGACGCAGGCGGAGGGCACCACGGCCCCTGCCGTGACCCCCGCCGCGGATGCCCTCTACGCCCTGCTTCGCGCATTCGGCTGGGCGCGCGTGGCCCTGGTCACCGCCCCCCAGGACCTGTGGGTGGAGGCGGGACGCTCACTGTCCACGGCACTCAGGGCCCGGGGCCTGCCTGTCGCCTCCGTGACTTCCATGGAGCCCTTGGACCTGTCTGGAGCCCGGGAGGCCCTGAGGAAGGTTCGGGACGGGCCCAGGGTCACAGGTAGGCTCCCTTGCAGGGTGCGAGGAGGTCGGCTGGTCCTGCCGGCAGCCGGACGGCGCCGCGAGCCAAGCCTCTGTCCGCAGCAGTGATCATGGTGATGCACTCGGTGCTGCTGGGTGGCGAGGAGCAGCGCTACCTCCTGGAGGCCGCAGAGGAGCTGGGCCTGACCGATGGCTCCCTGGTCTTCCTGCCCTTCGACACGATCCACTACGCCTTGTCCCCAGGCCCGGAGGCCTTGGCCGCACTCGCCAACAGCTCCCAGCTTCGCAGGGCCCACGATGCCGTGCTCACCCTCACGCGCCACTGTCCCTCTGAAGGCAGCGTGCTGGACAGCCTGCGCAGGGCTCAAGAGCGCCGCGAGCTGCCCTCTGACCTCAATCTGCAGCAGGTAGACGGTCCCGGGAGGAGGGAAGAAGGCAAGGGAGAGGGGAGAGGACAGCCAAAGCAGGGAGAGGAGGATGCAGCCAATGGAGAAAGAACCACTGGCAGCTCTAGCTGTTTGGAGTTTCCTGGGTAATGTAGAGGCTCTGGCCCCACTTGGGGTCTCTTAGTGTACGAGGATTGCCTCTAGAGAGTAGGCAATTCGACCTCTCAAGTCCAACATCAAGCAGTAAACTCTAATGAACTGTAAACTGCAAAACCTTTTGCAATTGGCTTCAAAGTAAACCCGTTTCCACCACCACATACTCCCAGCTGTCTAAAATAAATACTTGGTGTTCTTGAAAGCAGGAAGGAGGGAGGATGCCAATCCAACCTTCATCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTATTTCCAACATCCAGCTAATACCTAGGGATCCCCAAGTCCCCAGAATCCCAGTTCAGATCATCTAACTTTACTCCCGCCACAAAGGGGGACTAGAAACCACTATGAGAAGGGAATTTAGATGTCAACGGGCAGTGAATTAACCACCACAAAGGTCCAACTCACAGGCGGCTGCATGAGAGAAGGGTCGTAGGGGTTGCAATTTCCCATCGATGCCCCTAGATTCTTCCAAGAGGATTGGAGGTGTCCAATGGAGGGGGGAGGGGTGCAGTGATGGGAATAGTCAGAAGAGAATACAAGATAGGAATCATAATGAGATGGGATGGAGGGAGGGTCGGTCAGTGGAGAGAGGGAGGTTGAGAAAGTAGAGAGAGAAAAGCCCTTCAGCTCTCAGTAAGTACCACAGCAGTCCTCTCCACTGCCCAAACTGCGCAAGCCTCTGAGCGTGTGAGTCACCCTTGATTCCTTGAATTCTTCGCCCCCACTTCCAGGCATCAAGCCCTGTTACTGTTACTTCCTAAAGATCATTCGAATTCATCCGCTTTCTCCATCTTTACTGTCACTGCCCTGATTCAGGCCACAGCACCCCCAGCCCAAATCCCAAAACATAATCTCTCAGATGGTCTCTGCTTCAACACTCACCTGCCCAACACCTTTCTCCAGATCAAGCTTCAGAAATCTGACA 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CTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGAATAGATTTTGTGTATGGTGTGAGATAGGGATTGAATTCTATTTTCCCCCCAGATGGCTAATCAGCTCCATTTGTTGAAGTTTATTCTTTCCCAGTTGGTAAGAAATGTCCACGTCTTCACACATTTGCTGTGTTTGTTTCAGTACTGTATATTCTATTTCATTGGTCCATTTGTTTATCCTTGTGCCAAAACTATGAAGTCTTTATTGCCATAGCTTTATAATATATATTTATATAAATATATAATTGCTGTCACTACATAATGTGGATTTATATAAATATATAATATATAATTGCTATAGCTTTATAGTATATATTTATATAATTGCTGTTTTATATATCATATAATTATATAAATATATAATTGCTATGTTTTATATATTATATATTTATGTAGATATATAATTGCTATGTTTTATATATTATATATTTACATAAATACATAATTGCTATTGCTTTATAATAAATTTGTATATCTTATAGGGCATCTTCCATTATACTCTTCTCTAAAATTGTTAGCTATTCTTGCCATCCGGGCAATTATATTCATTTTCACAACAACCCTCAGATTAAGCAATTGCCCAAGGTCCAAAAATCAGCAAGAGGGACTTGGAACCCAGGTCTGTCGGAGGCCAAAGCTCTTTTCATTACTTCCTGAGGGTGGTTTTCTAGGCATGGAGAAGCAGAGGTCAGGGAATCAAGTGTGGCGAGAGAGAGAAGAGAAGTGAAAGAAGAAAGGCAGGTGTCAGCTTGGTGTGGGTTTGGTCTCTGGGATATAGACTTTGCCAGCCAAAGGATGGAGCTTGAACTTAGCTGGCAGAACTGGAAACAGAAGATTGTAAGGAAAGGGACTGGGATCAGTGTTTCTTCTCCAGGACGGATTACCCACAGCTGTCCACGGGCAGGCACTTGTTACTTTCTGGCTGAGCAGGGCAGTGTGGCCGACGGCTGAAAGGGGAAGCTGCGGCTGCTTTTGTGCAGGGGTGGTGGTGATGAGGGTGATGTGGGGGGCTGGAAGGCATGGAGGGGAAAGGATCTGGCTGACTACCTGGAAGCCAGGACAGATCCCACCCCAGAAAGGCGCAGTAGGGGCTCTCATCCTCCACTAGCCCGCCCCTCCCTACCTAATTAAGGACCCTAATCAGCTTGGGGAGATTAAGGGCTCTGGCCGGCTGTACCCACGCCCCCGCCCTGGCCTGGGCTGGCAAGGAAGACCTGTGGGCGGGCGTCAAAAGGGGGACCGGCCCTGTGACCCCTCACCGGGGGCCGTGGGCCCGAGCCCCCGGACTTCCCTGTAAATGTCAGAGGCCCCTCCGCTGGGATAGGGTCGGTCTGAGGGCGCAGGCGAGTCCCTGCTGACCCCTGACGCCTCCGACGGGGGGAGGGGCAGGCCGGGTGGGAGCGGGAAGCCGGGGCGGCAGAAGGGGGCTTCGGGGCGGTGTCCTTGGCCCCAGTTAGTCTTCCCAGCCTCCGGAGGGGGCGGTAGCAGCAGAATCATCCCATGGGTTACTCGGGCTTGGAGAAACTCGGGGTTACGGGGAGAACCCTAGGGGAGGCCGGGGTCTCAGTCGCTCAGCCTGCTCCGTCTGTGTTCGCAGAAGCCGGCAATGACCGCCTGCGCCCGCCGAGCGGGTGGGCTTCCGGACCCCGGGCTCTGCGGTCCCGCGTGGTGGGCTCCGTCCCTGCCCCGCCTCCCCCGGGCCCTGCCCCGGCTCCCGCTCCTGCTGCTCCTGCTTCTGCTGCAGCCCCCCGCCCTCTCCGCCGTGTTCACGGTGGGGGTCCTGGGCCCCTGGGCTTGCGACCCCATCTTCTCTCGGGCTCGCCCGGACCTGGCCGCCCGCCTGGCCGCCGCCTGCCTGAACCGCGACCCCGGCCTGGCAGGCGGTCCCCGCTTCGAGGTAGCGCTGCTGCCCGAGCCTTGCCGGACGCCGGGCTCGCTGGGGGCCGTGTCCTCCGCGCTGGCCCGCGTGTCGGGCCTCGTGGGTCCGGTGAACCCTGCGGCCTGCCGGCCAGCCGAGCTGCTCGCCGAAGAAGCCGGGATCGCGCTGGTGCCCTGGGGCTGCCCCTGGACGCAGGCGGAGGGCACCACGGCCCCTGCCGTGACCCCCGCCGCGGATGCCCTCTACGCCCTGCTTCGCGCATTCGGCTGGGCGCGCGTGGCCCTGGTCACCGCCCCCCAGGACCTGTGGGTGGAGGCGGGACGCTCACTGTCCACGGCACTCAGGGCCCGGGGCCTGCCTGTCGCCTCCGTGACTTCCATGGAGCCCTTGGACCTGTCTGGAGCCCGGGAGGCCCTGAGGAAGGTTCGGGACGGGCCCAGGGTCACAGGTAGGCTCCCTTGCAGGGTGCGAGGAGGTCGGCTGGTCCTGCCGGCAGCCGGACGGCGCCGCGAGCCAAGCCTCTGTCCGCAGCAGTGATCATGGTGATGCACTCGGTGCTGCTGGGTGGCGAGGAGCAGCGCTACCTCCTGGAGGCCGCAGAGGAGCTGGGCCTGACCGATGGCTCCCTGGTCTTCCTGCCCTTCGACACGATCCACTACGCCTTGTCCCCAGGCCCGGAGGCCTTGGCCGCACTCGCCAACAGCTCCCAGCTTCGCAGGGCCCACGATGCCGTGCTCACCCTCACGCGCCACTGTCCCTCTGAAGGCAGCGTGCTGGACAGCCTGCGCAGGGCTCAAGAGCGCCGCGAGCTGCCCTCTGACCTCAATCTGCAGCAGGTAGACGGTCCCGGGAGGAGGGAAGAAGGCAAGGGAGAGGGGAGAGGACAGCCAAAGCAGGGAGAGGAGGATGCAGCCAATGGAGAAAGAACCACTGGCAGCTCTAGCTGTTTGGAGTTTCCTGGGTAATGTAGAGGCTCTGGCCCCACTTGGGGTCTCTTAGTGTACGAGGATTGCCTCTAGAGAGTAGGCAATTCGACCTCTCAAGTCCAACATCAAGCAGTAAACTCTAATGAACTGTAAACTGCAAAACCTTTTGCAATTGGCTTCAAAGTAAACCCGTTTCCACCACCACATACTCCCAGCTGTCTAAAATAAATACTTGGTGTTCTTGAAAGCAGGAAGGAGGGAGGATGCCAATCCAACCTTCATCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTATTTCCAACATCCAGCTAATACCTAGGGATCCCCAAGTCCCCAGAATCCCAGTTCAGATCATCTAACTTTACTCCCGCCACAAAGGGGGACTAGAAACCACTATGAGAAGGGAATTTAGATGTCAACGGGCAGTGAATTAACCACCACAAAGGTCCAACTCACAGGCGGCTGCATGAGAGAAGGGTCGTAGGGGTTGCAATTTCCCATCGATGCCCCTAGATTCTTCCAAGAGGATTGGAGGTGTCCAATGGAGGGGGGAGGGGTGCAGTGATGGGAATAGTCAGAAGAGAATACAAGATAGGAATCATAATGAGATGGGATGGAGGGAGGGTCGGTCAGTGGAGAGAGGGAGGTTGAGAAAGTAGAGAGAGAAAAGCCCTTCAGCTCTCAGTAAGTACCACAGCAGTCCTCTCCACTGCCCAAACTGCGCAAGCCTCTGAGCGTGTGAGTCACCCTTGATTCCTTGAATTCTTCGCCCCCACTTCCAGGCATCAAGCCCTGTTACTGTTACTTCCTAAAGATCATTCGAATTCATCCGCTTTCTCCATCTTTACTGTCACTGCCCTGATTCAGGCCACAGCACCCCCAGCCCAAATCCCAAAACATAATCTCTCAGATGGTCTCTGCTTCAACACTCACCTGCCCAACACCTTTCTCCAGATCAAGCTTCAGAAATCTGACA 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Task1_train_23650 | A variant affecting Chromosome 17, within the gene GUCY2D (guanylate cyclase 2D, retinal), has been observed. Determine if it's benign or associated with disease. | Pathogenic; GUCY2D-related recessive retinopathy | AGAGTAGGCAATTCGACCTCTCAAGTCCAACATCAAGCAGTAAACTCTAATGAACTGTAAACTGCAAAACCTTTTGCAATTGGCTTCAAAGTAAACCCGTTTCCACCACCACATACTCCCAGCTGTCTAAAATAAATACTTGGTGTTCTTGAAAGCAGGAAGGAGGGAGGATGCCAATCCAACCTTCATCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTATTTCCAACATCCAGCTAATACCTAGGGATCCCCAAGTCCCCAGAATCCCAGTTCAGATCATCTAACTTTACTCCCGCCACAAAGGGGGACTAGAAACCACTATGAGAAGGGAATTTAGATGTCAACGGGCAGTGAATTAACCACCACAAAGGTCCAACTCACAGGCGGCTGCATGAGAGAAGGGTCGTAGGGGTTGCAATTTCCCATCGATGCCCCTAGATTCTTCCAAGAGGATTGGAGGTGTCCAATGGAGGGGGGAGGGGTGCAGTGATGGGAATAGTCAGAAGAGAATACAAGATAGGAATCATAATGAGATGGGATGGAGGGAGGGTCGGTCAGTGGAGAGAGGGAGGTTGAGAAAGTAGAGAGAGAAAAGCCCTTCAGCTCTCAGTAAGTACCACAGCAGTCCTCTCCACTGCCCAAACTGCGCAAGCCTCTGAGCGTGTGAGTCACCCTTGATTCCTTGAATTCTTCGCCCCCACTTCCAGGCATCAAGCCCTGTTACTGTTACTTCCTAAAGATCATTCGAATTCATCCGCTTTCTCCATCTTTACTGTCACTGCCCTGATTCAGGCCACAGCACCCCCAGCCCAAATCCCAAAACATAATCTCTCAGATGGTCTCTGCTTCAACACTCACCTGCCCAACACCTTTCTCCAGATCAAGCTTCAGAAATCTGACAGATCTCACCCTGTCATGCCCCTGTTCAAAGCCTCACAGTGGCTTCTGTTGCCCTGGATAGATGCAGGCCTCTCCACATGGCTTACCAGGTCACCTGTCTTTCTCTCTCTTCCACCTCCCATGAACTTCAGCCAGACCAAGCTACTCTGGGTTCTTGGAATGTGTCCTTCTCTTTTGCCTCTGAGCTTCTGAGTGTGCTGTTTCCTCTCTCTTGTCCCTGCCTCCCCTGGATAATTCTGACTCATCCCCTGAAGGATGGTCACTTCTAACAGCTCCTTCTCTGTCCACAGCCTAGGGTGGGGACACCCATTCCTGTCTCTGCAGCTCCCTCAGTTTCCCCTACTTTTACTCATTGCACTGCCTGAACACCCCTGTCTCTTTGGCAAGAAGAAAGGTTCCTTGAGACGGGGTCTGTCTTGTACACTGATACATCTTTAGTGCTCTGCACAGTGCCTGGCTCTCTGAGAGATGGCAACTGGGAATAATAGAGAAGCCTGATAAGATCGGGTGGTAACAATAGAGAAGGTTTTTTGTTTGTTTTTTGTTTAGTTTTTTTGTTTGTTTGTTTGTTTTTTTAAGGAACAACAGAAAATAGAAGCCAACCAAAAGATAGGTGAGAAGGCTTTTAGGTGAATGGTAGGTGATGAGGTTAAAACTATATGCTGGGCAACCAACAGGAAGAAGAGAGGACCTACAGGTGATGGAGAATTAGAATCAACCAATGGTCAGAGAGGAGGCTGAGTCCTGAAAAGAGGAACCAGTTAGTGGGGAGAGCAGGTGTGACAGCCAATAGGAGAGGGAGGAAGAGAGAGCCAGTGGGGAGGGAGGAAGAGAGAGCCAATGGGGAGGGAGGAAGAGAGCCAATGGGGAGGGAGGAAGAGATAGCCAATGGGGAGGGATCCTGGGAACAACTAACTGGAAGGTGGCAACAGTGGATACCCTGGGCTTGACAGGCAGTGAAAGAATCTGGTCTGTCTGTGGGCTGTGACCCCGACCTCTGAGCCCCTACTCTCCTTCTCCAGGTCTCCCCACTCTTTGGCACCATCTATGACGCGGTCTTCTTGCTGGCAAGGGGCGTGGCAGAAGCGCGGGCTGCCGCAGGTGGCAGATGGGTGTCCGGAGCAGCTGTGGCCCGCCACATCCGGGATGCGCAGGTCCCTGGCTTCTGCGGGGACCTAGGAGGAGACGAGGAGCCCCCATTCGTGCTGCTAGACACGGACGCGGCGGGAGACCGGCTTTTTGCCACATACATGCTGGATCCTGCCCGGGGCTCCTTCCTCTCCGCCGGTACCCGGATGCACTTCCCGCGTGGGGGATCAGCACCCGGACCTGACCCCTCGTGCTGGTTCGATCCAAACAACATCTGCGGTGGAGGTGAGGGCGAGCACCCCAGTCCCCACTGAGACAATCGCCATGGACCATCCACAAAGTGATGAAAGAGAGTGGACTCCTATCCTGTAATCCGTCTTCGATGCCCTTCTAGGCCCTCTCCCAGCCTCTGGCTTGCACAGGACCCCTCTCTTGCTGAGCTCCAAAGCCCTCTTGGAAATTTTCTATCATTCCCAGCCTCTCCCCTTTGAGGAACTATGACCTACCCCTAGAGCCTCTCTGGGCCCCCATCCCCCTTTCCTGGAGGGGCCAGCATGTGGCATGCCTCCCTAGAGAAGAGGCCTCCCCTGGCATCGCTCCTCAGTATACCTCCTGTCACTGTCCCTTCAGGACTGGAGCCGGGCCTCGTCTTTCTTGGCTTCCTCCTGGTGGTTGGGATGGGGCTGGCTGGGGCCTTCCTGGCCCATTATGTGAGGTGAGTAGTGGAATGAGGTAAGTAGGAAGTGAGCTTGTGCCAGAAATGGAAGTCTGCAGCAAAAACAGCAGGCTGGGTTCACTCAGGAGTAGAGGAGGAGATTTTTCTTGGGGTGAGGGTGTTCTGGTGGGCTGGTAGAGTCCCAGGGGATGTGTGCTTTGGGGATGGCTGCCCTCCAGGACCCCTCCCCTGAGCCAACGTTATCCCTCCCCCGCATCCCCTGCTGGTCTCTTCTGACGGAACTTGGTGCCCTTGGTGGAGGTGACCTCTTTCTCCACCAGGCACCGGCTACTTCACATGCAAATGGTCTCCGGCCCCAACAAGATCATCCTGACCGTGGACGACATCACCTTTCTCCACCCACATGGGGGCACCTCTCGAAAGGTGGGGGAGGCAGAGAGGCAGGAGCCAGTTGTCTTCTTTCCGTAAATTTGGTTCCTTCCCTGGGCCAGTCCCGACCCCAGCTCCCTACTTGGGAAGCCTGATTTCTACCCCAGTTCTGTCCCACGTCTGAAGTCTAGGGATCAGCACCCTCATCTGTGCAATGAGGGTAACAGTACCTGTCCTGACTACTTTCCTGGCGGGGAGGTGAAGCTCCAACAAGAAAATGAATGTTTGCTTTGTAAACTGTAAAGCGTGCACTTGGGGAGTAATGTCATTATCACCTTCCCTCATTGAGATTCCTTCGCCTCCCATCTTTAAATCCCCAAAACTCAGCCTGACCTCAACCCAGGACTCTGACACCAGAATATATTTTGACCTCTTGCATTGACCTCTACCTGCTAGGTGGCCCAGGGGAGTCGATCAAGTCTGGGTGCCCGCAGCATGTCAGACATTCGCAGCGGCCCCAGCCAACACTTGGACAGCCCCAACATTGGTGTCTATGAGGTGAGCCTGACCCCAGCCAGACAGAGAGACAGTGGGGGAAGAATGCTCAGGCCCTGGGCAGAGGGGAGGCGCACTCTCAGGAGGACATGTAGTCATGTCAAATCCTGCAGGCTCCAGGAGATGGGGGATGGGAGCCCAGACAGGATCTAGGGAAAGGTCATGGATCCCTCAAAGGGAAGCACCTAGGAATCTTCCCTCCCCAAGGATTTTTCTCTAGCCACTATCTGGGTAAGGGCTCCTCAAAAGCTAACCACAGTGACCCAGAGACTGGAGGCTGGAGCTGCCAGGGAGCATGCTGGGACCAGCAGGTAACATGGTGTGGCCACTGAGACCATCTCCGGCCTGGTCAGAGCCTCTGGCCCTGCCCCTCAGCATTTCCACCCAATTCAGACCAGACTCAGGA 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AGAGTAGGCAATTCGACCTCTCAAGTCCAACATCAAGCAGTAAACTCTAATGAACTGTAAACTGCAAAACCTTTTGCAATTGGCTTCAAAGTAAACCCGTTTCCACCACCACATACTCCCAGCTGTCTAAAATAAATACTTGGTGTTCTTGAAAGCAGGAAGGAGGGAGGATGCCAATCCAACCTTCATCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTATTTCCAACATCCAGCTAATACCTAGGGATCCCCAAGTCCCCAGAATCCCAGTTCAGATCATCTAACTTTACTCCCGCCACAAAGGGGGACTAGAAACCACTATGAGAAGGGAATTTAGATGTCAACGGGCAGTGAATTAACCACCACAAAGGTCCAACTCACAGGCGGCTGCATGAGAGAAGGGTCGTAGGGGTTGCAATTTCCCATCGATGCCCCTAGATTCTTCCAAGAGGATTGGAGGTGTCCAATGGAGGGGGGAGGGGTGCAGTGATGGGAATAGTCAGAAGAGAATACAAGATAGGAATCATAATGAGATGGGATGGAGGGAGGGTCGGTCAGTGGAGAGAGGGAGGTTGAGAAAGTAGAGAGAGAAAAGCCCTTCAGCTCTCAGTAAGTACCACAGCAGTCCTCTCCACTGCCCAAACTGCGCAAGCCTCTGAGCGTGTGAGTCACCCTTGATTCCTTGAATTCTTCGCCCCCACTTCCAGGCATCAAGCCCTGTTACTGTTACTTCCTAAAGATCATTCGAATTCATCCGCTTTCTCCATCTTTACTGTCACTGCCCTGATTCAGGCCACAGCACCCCCAGCCCAAATCCCAAAACATAATCTCTCAGATGGTCTCTGCTTCAACACTCACCTGCCCAACACCTTTCTCCAGATCAAGCTTCAGAAATCTGACAGATCTCACCCTGTCATGCCCCTGTTCAAAGCCTCACAGTGGCTTCTGTTGCCCTGGATAGATGCAGGCCTCTCCACATGGCTTACCAGGTCACCTGTCTTTCTCTCTCTTCCACCTCCCATGAACTTCAGCCAGACCAAGCTACTCTGGGTTCTTGGAATGTGTCCTTCTCTTTTGCCTCTGAGCTTCTGAGTGTGCTGTTTCCTCTCTCTTGTCCCTGCCTCCCCTGGATAATTCTGACTCATCCCCTGAAGGATGGTCACTTCTAACAGCTCCTTCTCTGTCCACAGCCTAGGGTGGGGACACCCATTCCTGTCTCTGCAGCTCCCTCAGTTTCCCCTACTTTTACTCATTGCACTGCCTGAACACCCCTGTCTCTTTGGCAAGAAGAAAGGTTCCTTGAGACGGGGTCTGTCTTGTACACTGATACATCTTTAGTGCTCTGCACAGTGCCTGGCTCTCTGAGAGATGGCAACTGGGAATAATAGAGAAGCCTGATAAGATCGGGTGGTAACAATAGAGAAGGTTTTTTGTTTGTTTTTTGTTTAGTTTTTTTGTTTGTTTGTTTGTTTTTTTAAGGAACAACAGAAAATAGAAGCCAACCAAAAGATAGGTGAGAAGGCTTTTAGGTGAATGGTAGGTGATGAGGTTAAAACTATATGCTGGGCAACCAACAGGAAGAAGAGAGGACCTACAGGTGATGGAGAATTAGAATCAACCAATGGTCAGAGAGGAGGCTGAGTCCTGAAAAGAGGAACCAGTTAGTGGGGAGAGCAGGTGTGACAGCCAATAGGAGAGGGAGGAAGAGAGAGCCAGTGGGGAGGGAGGAAGAGAGAGCCAATGGGGAGGGAGGAAGAGAGCCAATGGGGAGGGAGGAAGAGATAGCCAATGGGGAGGGATCCTGGGAACAACTAACTGGAAGGTGGCAACAGTGGATACCCTGGGCTTGACAGGCAGTGAAAGAATCTGGTCTGTCTGTGGGCTGTGACCCCGACCTCTGAGCCCCTACTCTCCTTCTCCAGGTCTCCCCACTCTTTGGCACCATCTGTGACGCGGTCTTCTTGCTGGCAAGGGGCGTGGCAGAAGCGCGGGCTGCCGCAGGTGGCAGATGGGTGTCCGGAGCAGCTGTGGCCCGCCACATCCGGGATGCGCAGGTCCCTGGCTTCTGCGGGGACCTAGGAGGAGACGAGGAGCCCCCATTCGTGCTGCTAGACACGGACGCGGCGGGAGACCGGCTTTTTGCCACATACATGCTGGATCCTGCCCGGGGCTCCTTCCTCTCCGCCGGTACCCGGATGCACTTCCCGCGTGGGGGATCAGCACCCGGACCTGACCCCTCGTGCTGGTTCGATCCAAACAACATCTGCGGTGGAGGTGAGGGCGAGCACCCCAGTCCCCACTGAGACAATCGCCATGGACCATCCACAAAGTGATGAAAGAGAGTGGACTCCTATCCTGTAATCCGTCTTCGATGCCCTTCTAGGCCCTCTCCCAGCCTCTGGCTTGCACAGGACCCCTCTCTTGCTGAGCTCCAAAGCCCTCTTGGAAATTTTCTATCATTCCCAGCCTCTCCCCTTTGAGGAACTATGACCTACCCCTAGAGCCTCTCTGGGCCCCCATCCCCCTTTCCTGGAGGGGCCAGCATGTGGCATGCCTCCCTAGAGAAGAGGCCTCCCCTGGCATCGCTCCTCAGTATACCTCCTGTCACTGTCCCTTCAGGACTGGAGCCGGGCCTCGTCTTTCTTGGCTTCCTCCTGGTGGTTGGGATGGGGCTGGCTGGGGCCTTCCTGGCCCATTATGTGAGGTGAGTAGTGGAATGAGGTAAGTAGGAAGTGAGCTTGTGCCAGAAATGGAAGTCTGCAGCAAAAACAGCAGGCTGGGTTCACTCAGGAGTAGAGGAGGAGATTTTTCTTGGGGTGAGGGTGTTCTGGTGGGCTGGTAGAGTCCCAGGGGATGTGTGCTTTGGGGATGGCTGCCCTCCAGGACCCCTCCCCTGAGCCAACGTTATCCCTCCCCCGCATCCCCTGCTGGTCTCTTCTGACGGAACTTGGTGCCCTTGGTGGAGGTGACCTCTTTCTCCACCAGGCACCGGCTACTTCACATGCAAATGGTCTCCGGCCCCAACAAGATCATCCTGACCGTGGACGACATCACCTTTCTCCACCCACATGGGGGCACCTCTCGAAAGGTGGGGGAGGCAGAGAGGCAGGAGCCAGTTGTCTTCTTTCCGTAAATTTGGTTCCTTCCCTGGGCCAGTCCCGACCCCAGCTCCCTACTTGGGAAGCCTGATTTCTACCCCAGTTCTGTCCCACGTCTGAAGTCTAGGGATCAGCACCCTCATCTGTGCAATGAGGGTAACAGTACCTGTCCTGACTACTTTCCTGGCGGGGAGGTGAAGCTCCAACAAGAAAATGAATGTTTGCTTTGTAAACTGTAAAGCGTGCACTTGGGGAGTAATGTCATTATCACCTTCCCTCATTGAGATTCCTTCGCCTCCCATCTTTAAATCCCCAAAACTCAGCCTGACCTCAACCCAGGACTCTGACACCAGAATATATTTTGACCTCTTGCATTGACCTCTACCTGCTAGGTGGCCCAGGGGAGTCGATCAAGTCTGGGTGCCCGCAGCATGTCAGACATTCGCAGCGGCCCCAGCCAACACTTGGACAGCCCCAACATTGGTGTCTATGAGGTGAGCCTGACCCCAGCCAGACAGAGAGACAGTGGGGGAAGAATGCTCAGGCCCTGGGCAGAGGGGAGGCGCACTCTCAGGAGGACATGTAGTCATGTCAAATCCTGCAGGCTCCAGGAGATGGGGGATGGGAGCCCAGACAGGATCTAGGGAAAGGTCATGGATCCCTCAAAGGGAAGCACCTAGGAATCTTCCCTCCCCAAGGATTTTTCTCTAGCCACTATCTGGGTAAGGGCTCCTCAAAAGCTAACCACAGTGACCCAGAGACTGGAGGCTGGAGCTGCCAGGGAGCATGCTGGGACCAGCAGGTAACATGGTGTGGCCACTGAGACCATCTCCGGCCTGGTCAGAGCCTCTGGCCCTGCCCCTCAGCATTTCCACCCAATTCAGACCAGACTCAGGA 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Task1_train_23651 | The gene GUCY2D (guanylate cyclase 2D, retinal) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; GUCY2D-related recessive retinopathy | GGACGACATCACCTTTCTCCACCCACATGGGGGCACCTCTCGAAAGGTGGGGGAGGCAGAGAGGCAGGAGCCAGTTGTCTTCTTTCCGTAAATTTGGTTCCTTCCCTGGGCCAGTCCCGACCCCAGCTCCCTACTTGGGAAGCCTGATTTCTACCCCAGTTCTGTCCCACGTCTGAAGTCTAGGGATCAGCACCCTCATCTGTGCAATGAGGGTAACAGTACCTGTCCTGACTACTTTCCTGGCGGGGAGGTGAAGCTCCAACAAGAAAATGAATGTTTGCTTTGTAAACTGTAAAGCGTGCACTTGGGGAGTAATGTCATTATCACCTTCCCTCATTGAGATTCCTTCGCCTCCCATCTTTAAATCCCCAAAACTCAGCCTGACCTCAACCCAGGACTCTGACACCAGAATATATTTTGACCTCTTGCATTGACCTCTACCTGCTAGGTGGCCCAGGGGAGTCGATCAAGTCTGGGTGCCCGCAGCATGTCAGACATTCGCAGCGGCCCCAGCCAACACTTGGACAGCCCCAACATTGGTGTCTATGAGGTGAGCCTGACCCCAGCCAGACAGAGAGACAGTGGGGGAAGAATGCTCAGGCCCTGGGCAGAGGGGAGGCGCACTCTCAGGAGGACATGTAGTCATGTCAAATCCTGCAGGCTCCAGGAGATGGGGGATGGGAGCCCAGACAGGATCTAGGGAAAGGTCATGGATCCCTCAAAGGGAAGCACCTAGGAATCTTCCCTCCCCAAGGATTTTTCTCTAGCCACTATCTGGGTAAGGGCTCCTCAAAAGCTAACCACAGTGACCCAGAGACTGGAGGCTGGAGCTGCCAGGGAGCATGCTGGGACCAGCAGGTAACATGGTGTGGCCACTGAGACCATCTCCGGCCTGGTCAGAGCCTCTGGCCCTGCCCCTCAGCATTTCCACCCAATTCAGACCAGACTCAGGAATAGCAACCCCTAGAGGGGGAAAAGAAAGTCACAAAAAAGTATTAGGACATTAACTTTGGGGCTGGTAAATCTGAATGCGGTCAAGTGGAGGGGAGATGATGAGAACAGATTGAGAGAGAGCTGAGAGTGCTGAGCAAATCAAGAGAGTAGAAATTTAGAGCTCCTGGGCTTCAGGTCATGGGAAGGAATGCAGAGGCTCCTATCATGTCACCTAGAGATCATCATGGCCAATTCTCAGAGGAGGCACTATTGTCATTTGGGGCAGATTGTCCTAAATTGTATGGGACTACTCTGTGCCTTGAAGAATATTTAGTGTTTCTTGTCTCTGGCCCTGTCCACTAATGCAGCTCCTAGTTTTTGTGACAGTTAAAACTTTCCCCACATTTATTTCCAAATGCTCCTTAGGGGTCAGTACTAAACCCCAATTCCCTTCTAAATTCCCTTCTAGTCCAAATCCCTTATAAACAAGACAGGGCCACCTGCATAATTAGCGAGATCCAGGGCAAGATAGAAATGAGGGGCTCCTCGTTCATTCATGATGATGGCAGGAGGTCATTGAACCAAGCTTGGGCCCTTCGGAGCACGAGGCCCTGTGTGACTGCACAGGTCCCATGCCTGTGAACCGGCCCTGCCAACAGTTGAGGATGAGGTCCAGCATCAGGAGGGGAGCTGTCTATAGTTCAGTTAGTTTTCAATAAAGCCTGATCTACCCAGATTTTTTACTCCCAGAACATGTTCTCTCATGGCAGTGGATGGTAATGAGGGTTGTGATGTCGATGACACTTGTGGTTGTATTAATGCACTTAATAGGACTATTGGTGGGCACAGCTGGGTTGGTGAGGACAGCCATCCATGGCTTCAGAATCTCTGTCATCCAGGGGTGGGCCCTCTCCCAGATGGCTGTGAAGTGGATGGGCATACATCAAACCCCTTGGTTCAATGCATTTTGTCACATGGAAGATGCATTCTGGGACAGTGAGCCAATGGAAATGAGGGGGAGGGGTTCTAGGGCTCCCCATCGTGGGATTTTAAGAGACTGAGTTCCCTACCCCCATCCTCTTTGCTGCAGGGAGACAGGGTTTGGCTGAAGAAATTCCCAGGGGATCAGCACATAGCTATCCGCCCAGCAACCAAGACGGCCTTCTCCAAGGTGAGACTTGGGCCTGTGATGGGGCCTAGGTGGCCATCGGTTTCTCCCTCCTTGCCTTCTCTTTGCAGCTGGGTACAGAGGTAGGTCTCAGTTAAGTGTCCCCTCTGGCTGAGTGTGGTGGCTCATACGTGTAATCCTGGCACTTTGAGAGGCAGATGTGAGGGAGGATCACCTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAAAGAAACCCTATCTCTCCAAAAATTTTAAAATTAGCTGGGTGTGGCGTTACATGCCTGTAGTCCCAGCTACTCTTCAGAGGGTGAGGAGGGAGGATTATTTGAGCCTGGGAGTTGGAGGTTACCGTGGGCTGTGATCATACTACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCAAAATTAAGAAAGAAAAAAAAAAACATGTTTCCTCCACCCTGGAGTAGGCTTTCATTATTCTCTGCCACACCACTAGTTCTTTCCTTTGATCTTGTTGCAATGTGCAATTGTATGTTCATCTGTCTGCCTGCTTGTTTCTGCCTCTCTCGCTGGACTGTAAGCTGAGTGAGGGCCTCCTCACTCCCCTCCATTGTAATCAAGCACCCAACACAGTGTCTGGAACATTAGAGAGACCCAGTGAATGTTTGTTGATCTAATGATAGAAAATAAAAAATGAGTTTCCGGTTCTGTCAGGCCACTTGTGCAGAATAGCCCTGGACATTCTGAATGAAGTGCAAAGTTGGCAAGGAGGCTGTAAATGGCTTATTCTGGTCCTTACAACCTTAATGTCTCCCTTTATCTCCATGCCATGCAGCCTGGGCCTGGCCTTCTTCCCTGATTCCTCTACAGGAGCTCTTGGTCACAGATGCAGTGACTTAAGTGGACTATGTGTATGGGGATTAATGAACTCGATCACCATTTAATACCAGGTGTTTAAAATGAAAAGTATCTGGGCGCGGTGGCTCACACCTGTGATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGTGGGAGGCTGAGGCAGAAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTAAGCCGAGATCGCGGCACTGCACTTCAGCCTGGGCGACAGAGCAAGATTCCGTCTCAAAAAAAAAAAAAAAAAAGGAAAGGAAAGAAAAGTATCCCCTTATTGGGCATGTGGAGGGAAAAGCTAGAAAGGGCACCAGTCAGCCAGCTAAGCCACCTTTTTTTCTAGCATGCCCCGATTGTGAGGGCACTGTCCTGCAGAGCAGTCAGTCCTGTCTTCCCTAACTGAGGGAGGGTGGGAGTCTCAGACCCGACTGACACAATGACGTAACGCCAAGCAGAGCAGCCCCCGGCCAGGTTGCAGGCACACGCCATTTCTGGTGTCCTTTGAAAGTGGCACAGCTTCAGGCCGGGCACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATGGACCACCTGAGGTCAGGAGTTCGAGACCAGACTGGCCAACATAGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGATGGCACACACCTGTAATCCCAGCTATTCGGGAGGCTGAGACGGGAGAATCGCTTGAGCTCAGGATGCGGAGGTTGCAGTGACCCGAGATTGCACGACTGCAATCCAGCCTGGGTGACAGAGTAAGAATCTGTCTAAAAAAAAAATACATAAACAAAAGAAAAGAAAGAAAGTGGCACCGCTCCTCCCTGGCTCTCCCAGCAAAGGCTGTTAAATCAGGAGAGGATGGTGGTTCCAGGAGCTTCTCCTTCATGAGCTGCTTCCCTTAAGACCCAGGCAGTTCAGAGTTTTATGGCTGGGGCCAGGTGTGGTGGCTCAGGCCTATAATCCCAGCACT 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GGACGACATCACCTTTCTCCACCCACATGGGGGCACCTCTCGAAAGGTGGGGGAGGCAGAGAGGCAGGAGCCAGTTGTCTTCTTTCCGTAAATTTGGTTCCTTCCCTGGGCCAGTCCCGACCCCAGCTCCCTACTTGGGAAGCCTGATTTCTACCCCAGTTCTGTCCCACGTCTGAAGTCTAGGGATCAGCACCCTCATCTGTGCAATGAGGGTAACAGTACCTGTCCTGACTACTTTCCTGGCGGGGAGGTGAAGCTCCAACAAGAAAATGAATGTTTGCTTTGTAAACTGTAAAGCGTGCACTTGGGGAGTAATGTCATTATCACCTTCCCTCATTGAGATTCCTTCGCCTCCCATCTTTAAATCCCCAAAACTCAGCCTGACCTCAACCCAGGACTCTGACACCAGAATATATTTTGACCTCTTGCATTGACCTCTACCTGCTAGGTGGCCCAGGGGAGTCGATCAAGTCTGGGTGCCCGCAGCATGTCAGACATTCGCAGCGGCCCCAGCCAACACTTGGACAGCCCCAACATTGGTGTCTATGAGGTGAGCCTGACCCCAGCCAGACAGAGAGACAGTGGGGGAAGAATGCTCAGGCCCTGGGCAGAGGGGAGGCGCACTCTCAGGAGGACATGTAGTCATGTCAAATCCTGCAGGCTCCAGGAGATGGGGGATGGGAGCCCAGACAGGATCTAGGGAAAGGTCATGGATCCCTCAAAGGGAAGCACCTAGGAATCTTCCCTCCCCAAGGATTTTTCTCTAGCCACTATCTGGGTAAGGGCTCCTCAAAAGCTAACCACAGTGACCCAGAGACTGGAGGCTGGAGCTGCCAGGGAGCATGCTGGGACCAGCAGGTAACATGGTGTGGCCACTGAGACCATCTCCGGCCTGGTCAGAGCCTCTGGCCCTGCCCCTCAGCATTTCCACCCAATTCAGACCAGACTCAGGAATAGCAACCCCTAGAGGGGGAAAAGAAAGTCACAAAAAAGTATTAGGACATTAACTTTGGGGCTGGTAAATCTGAATGCGGTCAAGTGGAGGGGAGATGATGAGAACAGATTGAGAGAGAGCTGAGAGTGCTGAGCAAATCAAGAGAGTAGAAATTTAGAGCTCCTGGGCTTCAGGTCATGGGAAGGAATGCAGAGGCTCCTATCATGTCACCTAGAGATCATCATGGCCAATTCTCAGAGGAGGCACTATTGTCATTTGGGGCAGATTGTCCTAAATTGTATGGGACTACTCTGTGCCTTGAAGAATATTTAGTGTTTCTTGTCTCTGGCCCTGTCCACTAATGCAGCTCCTAGTTTTTGTGACAGTTAAAACTTTCCCCACATTTATTTCCAAATGCTCCTTAGGGGTCAGTACTAAACCCCAATTCCCTTCTAAATTCCCTTCTAGTCCAAATCCCTTATAAACAAGACAGGGCCACCTGCATAATTAGCGAGATCCAGGGCAAGATAGAAATGAGGGGCTCCTCGTTCATTCATGATGATGGCAGGAGGTCATTGAACCAAGCTTGGGCCCTTCGGAGCACGAGGCCCTGTGTGACTGCACAGGTCCCATGCCTGTGAACCGGCCCTGCCAACAGTTGAGGATGAGGTCCAGCATCAGGAGGGGAGCTGTCTATAGTTCAGTTAGTTTTCAATAAAGCCTGATCTACCCAGATTTTTTACTCCCAGAACATGTTCTCTCATGGCAGTGGATGGTAATGAGGGTTGTGATGTCGATGACACTTGTGGTTGTATTAATGCACTTAATAGGACTATTGGTGGGCACAGCTGGGTTGGTGAGGACAGCCATCCATGGCTTCAGAATCTCTGTCATCCAGGGGTGGGCCCTCTCCCAGATGGCTGTGAAGTGGATGGGCATACATCAAACCCCTTGGTTCAATGCATTTTGTCACATGGAAGATGCATTCTGGGACAGTGAGCCAATGGAAATGAGGGGGAGGGGTTCTAGGGCTCCCCATCGTGGGATTTTAAGAGACTGAGTTCCCTACCCCCATCCTCTTTGCTGCAGGGAGACAGGGTTTGGCTGAAGAAATCCCCAGGGGATCAGCACATAGCTATCCGCCCAGCAACCAAGACGGCCTTCTCCAAGGTGAGACTTGGGCCTGTGATGGGGCCTAGGTGGCCATCGGTTTCTCCCTCCTTGCCTTCTCTTTGCAGCTGGGTACAGAGGTAGGTCTCAGTTAAGTGTCCCCTCTGGCTGAGTGTGGTGGCTCATACGTGTAATCCTGGCACTTTGAGAGGCAGATGTGAGGGAGGATCACCTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAAAGAAACCCTATCTCTCCAAAAATTTTAAAATTAGCTGGGTGTGGCGTTACATGCCTGTAGTCCCAGCTACTCTTCAGAGGGTGAGGAGGGAGGATTATTTGAGCCTGGGAGTTGGAGGTTACCGTGGGCTGTGATCATACTACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCAAAATTAAGAAAGAAAAAAAAAAACATGTTTCCTCCACCCTGGAGTAGGCTTTCATTATTCTCTGCCACACCACTAGTTCTTTCCTTTGATCTTGTTGCAATGTGCAATTGTATGTTCATCTGTCTGCCTGCTTGTTTCTGCCTCTCTCGCTGGACTGTAAGCTGAGTGAGGGCCTCCTCACTCCCCTCCATTGTAATCAAGCACCCAACACAGTGTCTGGAACATTAGAGAGACCCAGTGAATGTTTGTTGATCTAATGATAGAAAATAAAAAATGAGTTTCCGGTTCTGTCAGGCCACTTGTGCAGAATAGCCCTGGACATTCTGAATGAAGTGCAAAGTTGGCAAGGAGGCTGTAAATGGCTTATTCTGGTCCTTACAACCTTAATGTCTCCCTTTATCTCCATGCCATGCAGCCTGGGCCTGGCCTTCTTCCCTGATTCCTCTACAGGAGCTCTTGGTCACAGATGCAGTGACTTAAGTGGACTATGTGTATGGGGATTAATGAACTCGATCACCATTTAATACCAGGTGTTTAAAATGAAAAGTATCTGGGCGCGGTGGCTCACACCTGTGATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGTGGGAGGCTGAGGCAGAAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTAAGCCGAGATCGCGGCACTGCACTTCAGCCTGGGCGACAGAGCAAGATTCCGTCTCAAAAAAAAAAAAAAAAAAGGAAAGGAAAGAAAAGTATCCCCTTATTGGGCATGTGGAGGGAAAAGCTAGAAAGGGCACCAGTCAGCCAGCTAAGCCACCTTTTTTTCTAGCATGCCCCGATTGTGAGGGCACTGTCCTGCAGAGCAGTCAGTCCTGTCTTCCCTAACTGAGGGAGGGTGGGAGTCTCAGACCCGACTGACACAATGACGTAACGCCAAGCAGAGCAGCCCCCGGCCAGGTTGCAGGCACACGCCATTTCTGGTGTCCTTTGAAAGTGGCACAGCTTCAGGCCGGGCACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATGGACCACCTGAGGTCAGGAGTTCGAGACCAGACTGGCCAACATAGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGATGGCACACACCTGTAATCCCAGCTATTCGGGAGGCTGAGACGGGAGAATCGCTTGAGCTCAGGATGCGGAGGTTGCAGTGACCCGAGATTGCACGACTGCAATCCAGCCTGGGTGACAGAGTAAGAATCTGTCTAAAAAAAAAATACATAAACAAAAGAAAAGAAAGAAAGTGGCACCGCTCCTCCCTGGCTCTCCCAGCAAAGGCTGTTAAATCAGGAGAGGATGGTGGTTCCAGGAGCTTCTCCTTCATGAGCTGCTTCCCTTAAGACCCAGGCAGTTCAGAGTTTTATGGCTGGGGCCAGGTGTGGTGGCTCAGGCCTATAATCCCAGCACT 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Task1_train_23652 | The variant affects gene GUCY2D (guanylate cyclase 2D, retinal), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Leber congenital amaurosis | TCACAGATGCAGTGACTTAAGTGGACTATGTGTATGGGGATTAATGAACTCGATCACCATTTAATACCAGGTGTTTAAAATGAAAAGTATCTGGGCGCGGTGGCTCACACCTGTGATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGTGGGAGGCTGAGGCAGAAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTAAGCCGAGATCGCGGCACTGCACTTCAGCCTGGGCGACAGAGCAAGATTCCGTCTCAAAAAAAAAAAAAAAAAAGGAAAGGAAAGAAAAGTATCCCCTTATTGGGCATGTGGAGGGAAAAGCTAGAAAGGGCACCAGTCAGCCAGCTAAGCCACCTTTTTTTCTAGCATGCCCCGATTGTGAGGGCACTGTCCTGCAGAGCAGTCAGTCCTGTCTTCCCTAACTGAGGGAGGGTGGGAGTCTCAGACCCGACTGACACAATGACGTAACGCCAAGCAGAGCAGCCCCCGGCCAGGTTGCAGGCACACGCCATTTCTGGTGTCCTTTGAAAGTGGCACAGCTTCAGGCCGGGCACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATGGACCACCTGAGGTCAGGAGTTCGAGACCAGACTGGCCAACATAGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGATGGCACACACCTGTAATCCCAGCTATTCGGGAGGCTGAGACGGGAGAATCGCTTGAGCTCAGGATGCGGAGGTTGCAGTGACCCGAGATTGCACGACTGCAATCCAGCCTGGGTGACAGAGTAAGAATCTGTCTAAAAAAAAAATACATAAACAAAAGAAAAGAAAGAAAGTGGCACCGCTCCTCCCTGGCTCTCCCAGCAAAGGCTGTTAAATCAGGAGAGGATGGTGGTTCCAGGAGCTTCTCCTTCATGAGCTGCTTCCCTTAAGACCCAGGCAGTTCAGAGTTTTATGGCTGGGGCCAGGTGTGGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCATTTGAAGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGGCTCCCATCTCTACAGAAAAAAAATTTTAAATGTTATCTAGGCATGGTGGCACAAGCCTGTAGTCCCAGCTATTCAGGAGGCTGAGGTAGGAGGATCACTTGAACCAAGGAATGAAAGGTAGCAGTGATTTATGATCATGCCGCTGCACTCCAGTCTGGGCAACAGAGTGAGACCTCGTGTCTAAAAAAAAAGGCTTATGATCAATAAATCCGAACCTGCCTGGGTCCTGATCACCAATGCAAAGTTGTCTTTTCATTCACAGCATTAGGCTAAACCATACTCAGTATCCAAACAGTGGCCTTTGACTATATTGTTTTTTCCAAAAATAGGACTATGTGTAGAAGAGAGCCCCCGTACATACCTTATCAACCATTTCATCCACCATTTGTAAAAATCTCATCTTCTGGGTCTGGATACTCAAAAACAGATCTTGATTAACAGCCCCTTCCCCACATTGCCCTGGGCAGAAAATGCAAGTCAACTCTCCCCCTCTCAGCTCCAGGAGCTCCGGCATGAGAACGTGGCCCTCTACCTGGGGCTTTTCCTGGCTCGGGGAGCAGAAGGCCCTGCGGCCCTCTGGGAGGGCAACCTGGCTGTGGTCTCAGAGCACTGCACGCGGGGCTCTCTTCAGGACCTCCTCGCTCAGAGAGAAATAAAGCTGGACTGGATGTTCAAGTCCTCCCTCCTGCTGGACCTTATCAAGGTGTGTGTCTGGGGGTGGTGGGGTGACGTCCTGGGGGCAGGGATGGGGAGCAAGGGAACCAAGCAGGCTGAGGCTGCCTCTTACCCTACCCATTCCAAGGGAATAAGGTATCTGCACCATCGAGGCGTGGCTCATGGGCGGCTGAAGTCACGGAACTGCATAGTGGATGGCAGATTCGTACTCAAGATCACTGACCACGGCCACGGGAGACTGCTGGAAGCACAGAAGGTGCTACCGGAGCCTCCCAGAGCGGAGGGTAAGAGTCCCCTGTGCAGACGAGGATCCACCGGGATCCCCATTATTTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATG 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TCACAGATGCAGTGACTTAAGTGGACTATGTGTATGGGGATTAATGAACTCGATCACCATTTAATACCAGGTGTTTAAAATGAAAAGTATCTGGGCGCGGTGGCTCACACCTGTGATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGTGGGAGGCTGAGGCAGAAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTAAGCCGAGATCGCGGCACTGCACTTCAGCCTGGGCGACAGAGCAAGATTCCGTCTCAAAAAAAAAAAAAAAAAAGGAAAGGAAAGAAAAGTATCCCCTTATTGGGCATGTGGAGGGAAAAGCTAGAAAGGGCACCAGTCAGCCAGCTAAGCCACCTTTTTTTCTAGCATGCCCCGATTGTGAGGGCACTGTCCTGCAGAGCAGTCAGTCCTGTCTTCCCTAACTGAGGGAGGGTGGGAGTCTCAGACCCGACTGACACAATGACGTAACGCCAAGCAGAGCAGCCCCCGGCCAGGTTGCAGGCACACGCCATTTCTGGTGTCCTTTGAAAGTGGCACAGCTTCAGGCCGGGCACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATGGACCACCTGAGGTCAGGAGTTCGAGACCAGACTGGCCAACATAGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGATGGCACACACCTGTAATCCCAGCTATTCGGGAGGCTGAGACGGGAGAATCGCTTGAGCTCAGGATGCGGAGGTTGCAGTGACCCGAGATTGCACGACTGCAATCCAGCCTGGGTGACAGAGTAAGAATCTGTCTAAAAAAAAAATACATAAACAAAAGAAAAGAAAGAAAGTGGCACCGCTCCTCCCTGGCTCTCCCAGCAAAGGCTGTTAAATCAGGAGAGGATGGTGGTTCCAGGAGCTTCTCCTTCATGAGCTGCTTCCCTTAAGACCCAGGCAGTTCAGAGTTTTATGGCTGGGGCCAGGTGTGGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCATTTGAAGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGGCTCCCATCTCTACAGAAAAAAAATTTTAAATGTTATCTAGGCATGGTGGCACAAGCCTGTAGTCCCAGCTATTCAGGAGGCTGAGGTAGGAGGATCACTTGAACCAAGGAATGAAAGGTAGCAGTGATTTATGATCATGCCGCTGCACTCCAGTCTGGGCAACAGAGTGAGACCTCGTGTCTAAAAAAAAAGGCTTATGATCAATAAATCCGAACCTGCCTGGGTCCTGATCACCAATGCAAAGTTGTCTTTTCATTCACAGCATTAGGCTAAACCATACTCAGTATCCAAACAGTGGCCTTTGACTATATTGTTTTTTCCAAAAATAGGACTATGTGTAGAAGAGAGCCCCCGTACATACCTTATCAACCATTTCATCCACCATTTGTAAAAATCTCATCTTCTGGGTCTGGATACTCAAAAACAGATCTTGATTAACAGCCCCTTCCCCACATTGCCCTGGGCAGAAAATGCAAGTCAACTCTCCCCCTCTCAGCTCCAGGAGCTCCGGCATGAGAACGTGGCCCTCTACCTGGGGCTTTTCCTGGCTCGGGGAGCAGAAGGCCCTGCGGCCCTCTGGGAGGGCAACCTGGCTGTGGTCTCAGAGCACTGCACGCGGGGCTCTCTTCAGGACCTCCTCGCTCAGAGAGAAATAAAGCTGGACTGGATGTTCAAGTCCTCCCTCCTGCTGGACCTTATCAAGGTGTGTGTCTGGGGGTGGTGGGGTGACGTCCTGGGGGCAGGGATGGGGAGCAAGGGAACCAAGCAGGCTGAGGCTGCCTCTTACCCTACCCATTCCAAGGGAATAAGGTATCTGCACCATCGAGGCGTGGCTCAGGGGCGGCTGAAGTCACGGAACTGCATAGTGGATGGCAGATTCGTACTCAAGATCACTGACCACGGCCACGGGAGACTGCTGGAAGCACAGAAGGTGCTACCGGAGCCTCCCAGAGCGGAGGGTAAGAGTCCCCTGTGCAGACGAGGATCCACCGGGATCCCCATTATTTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATG 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Task1_train_23653 | Here’s a variant in GUCY2D (guanylate cyclase 2D, retinal) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; GUCY2D-related recessive retinopathy | GGTCCTGATCACCAATGCAAAGTTGTCTTTTCATTCACAGCATTAGGCTAAACCATACTCAGTATCCAAACAGTGGCCTTTGACTATATTGTTTTTTCCAAAAATAGGACTATGTGTAGAAGAGAGCCCCCGTACATACCTTATCAACCATTTCATCCACCATTTGTAAAAATCTCATCTTCTGGGTCTGGATACTCAAAAACAGATCTTGATTAACAGCCCCTTCCCCACATTGCCCTGGGCAGAAAATGCAAGTCAACTCTCCCCCTCTCAGCTCCAGGAGCTCCGGCATGAGAACGTGGCCCTCTACCTGGGGCTTTTCCTGGCTCGGGGAGCAGAAGGCCCTGCGGCCCTCTGGGAGGGCAACCTGGCTGTGGTCTCAGAGCACTGCACGCGGGGCTCTCTTCAGGACCTCCTCGCTCAGAGAGAAATAAAGCTGGACTGGATGTTCAAGTCCTCCCTCCTGCTGGACCTTATCAAGGTGTGTGTCTGGGGGTGGTGGGGTGACGTCCTGGGGGCAGGGATGGGGAGCAAGGGAACCAAGCAGGCTGAGGCTGCCTCTTACCCTACCCATTCCAAGGGAATAAGGTATCTGCACCATCGAGGCGTGGCTCATGGGCGGCTGAAGTCACGGAACTGCATAGTGGATGGCAGATTCGTACTCAAGATCACTGACCACGGCCACGGGAGACTGCTGGAAGCACAGAAGGTGCTACCGGAGCCTCCCAGAGCGGAGGGTAAGAGTCCCCTGTGCAGACGAGGATCCACCGGGATCCCCATTATTTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTC 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GGTCCTGATCACCAATGCAAAGTTGTCTTTTCATTCACAGCATTAGGCTAAACCATACTCAGTATCCAAACAGTGGCCTTTGACTATATTGTTTTTTCCAAAAATAGGACTATGTGTAGAAGAGAGCCCCCGTACATACCTTATCAACCATTTCATCCACCATTTGTAAAAATCTCATCTTCTGGGTCTGGATACTCAAAAACAGATCTTGATTAACAGCCCCTTCCCCACATTGCCCTGGGCAGAAAATGCAAGTCAACTCTCCCCCTCTCAGCTCCAGGAGCTCCGGCATGAGAACGTGGCCCTCTACCTGGGGCTTTTCCTGGCTCGGGGAGCAGAAGGCCCTGCGGCCCTCTGGGAGGGCAACCTGGCTGTGGTCTCAGAGCACTGCACGCGGGGCTCTCTTCAGGACCTCCTCGCTCAGAGAGAAATAAAGCTGGACTGGATGTTCAAGTCCTCCCTCCTGCTGGACCTTATCAAGGTGTGTGTCTGGGGGTGGTGGGGTGACGTCCTGGGGGCAGGGATGGGGAGCAAGGGAACCAAGCAGGCTGAGGCTGCCTCTTACCCTACCCATTCCAAGGGAATAAGGTATCTGCACCATCGAGGCGTGGCTCATGGGCGGCTGAAGTCACGGAACTGCATAGTGGATGGCAGATTCGTACTCAAGATCACTGACCACGGCCACGGGAGACTGCTGGAAGCACAGAAGGTGCTACCGGAGCCTCCCAGAGCGGAGGGTAAGAGTCCCCTGTGCAGACGAGGATCCACCGGGATCCCCATTATTTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTTGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTC 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Task1_train_23654 | A mutation in GUCY2D (guanylate cyclase 2D, retinal), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Leber congenital amaurosis 1 | GACTATATTGTTTTTTCCAAAAATAGGACTATGTGTAGAAGAGAGCCCCCGTACATACCTTATCAACCATTTCATCCACCATTTGTAAAAATCTCATCTTCTGGGTCTGGATACTCAAAAACAGATCTTGATTAACAGCCCCTTCCCCACATTGCCCTGGGCAGAAAATGCAAGTCAACTCTCCCCCTCTCAGCTCCAGGAGCTCCGGCATGAGAACGTGGCCCTCTACCTGGGGCTTTTCCTGGCTCGGGGAGCAGAAGGCCCTGCGGCCCTCTGGGAGGGCAACCTGGCTGTGGTCTCAGAGCACTGCACGCGGGGCTCTCTTCAGGACCTCCTCGCTCAGAGAGAAATAAAGCTGGACTGGATGTTCAAGTCCTCCCTCCTGCTGGACCTTATCAAGGTGTGTGTCTGGGGGTGGTGGGGTGACGTCCTGGGGGCAGGGATGGGGAGCAAGGGAACCAAGCAGGCTGAGGCTGCCTCTTACCCTACCCATTCCAAGGGAATAAGGTATCTGCACCATCGAGGCGTGGCTCATGGGCGGCTGAAGTCACGGAACTGCATAGTGGATGGCAGATTCGTACTCAAGATCACTGACCACGGCCACGGGAGACTGCTGGAAGCACAGAAGGTGCTACCGGAGCCTCCCAGAGCGGAGGGTAAGAGTCCCCTGTGCAGACGAGGATCCACCGGGATCCCCATTATTTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCC 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GACTATATTGTTTTTTCCAAAAATAGGACTATGTGTAGAAGAGAGCCCCCGTACATACCTTATCAACCATTTCATCCACCATTTGTAAAAATCTCATCTTCTGGGTCTGGATACTCAAAAACAGATCTTGATTAACAGCCCCTTCCCCACATTGCCCTGGGCAGAAAATGCAAGTCAACTCTCCCCCTCTCAGCTCCAGGAGCTCCGGCATGAGAACGTGGCCCTCTACCTGGGGCTTTTCCTGGCTCGGGGAGCAGAAGGCCCTGCGGCCCTCTGGGAGGGCAACCTGGCTGTGGTCTCAGAGCACTGCACGCGGGGCTCTCTTCAGGACCTCCTCGCTCAGAGAGAAATAAAGCTGGACTGGATGTTCAAGTCCTCCCTCCTGCTGGACCTTATCAAGGTGTGTGTCTGGGGGTGGTGGGGTGACGTCCTGGGGGCAGGGATGGGGAGCAAGGGAACCAAGCAGGCTGAGGCTGCCTCTTACCCTACCCATTCCAAGGGAATAAGGTATCTGCACCATCGAGGCGTGGCTCATGGGCGGCTGAAGTCACGGAACTGCATAGTGGATGGCAGATTCGTACTCAAGATCACTGACCACGGCCACGGGAGACTGCTGGAAGCACAGAAGGTGCTACCGGAGCCTCCCAGAGCGGAGGGTAAGAGTCCCCTGTGCAGACGAGGATCCACCGGGATCCCCATTATTTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTTGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCC 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Task1_train_23655 | This gene mutation involves GUCY2D (guanylate cyclase 2D, retinal) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Cone-rod dystrophy 6 | GACTATATTGTTTTTTCCAAAAATAGGACTATGTGTAGAAGAGAGCCCCCGTACATACCTTATCAACCATTTCATCCACCATTTGTAAAAATCTCATCTTCTGGGTCTGGATACTCAAAAACAGATCTTGATTAACAGCCCCTTCCCCACATTGCCCTGGGCAGAAAATGCAAGTCAACTCTCCCCCTCTCAGCTCCAGGAGCTCCGGCATGAGAACGTGGCCCTCTACCTGGGGCTTTTCCTGGCTCGGGGAGCAGAAGGCCCTGCGGCCCTCTGGGAGGGCAACCTGGCTGTGGTCTCAGAGCACTGCACGCGGGGCTCTCTTCAGGACCTCCTCGCTCAGAGAGAAATAAAGCTGGACTGGATGTTCAAGTCCTCCCTCCTGCTGGACCTTATCAAGGTGTGTGTCTGGGGGTGGTGGGGTGACGTCCTGGGGGCAGGGATGGGGAGCAAGGGAACCAAGCAGGCTGAGGCTGCCTCTTACCCTACCCATTCCAAGGGAATAAGGTATCTGCACCATCGAGGCGTGGCTCATGGGCGGCTGAAGTCACGGAACTGCATAGTGGATGGCAGATTCGTACTCAAGATCACTGACCACGGCCACGGGAGACTGCTGGAAGCACAGAAGGTGCTACCGGAGCCTCCCAGAGCGGAGGGTAAGAGTCCCCTGTGCAGACGAGGATCCACCGGGATCCCCATTATTTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCC 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GACTATATTGTTTTTTCCAAAAATAGGACTATGTGTAGAAGAGAGCCCCCGTACATACCTTATCAACCATTTCATCCACCATTTGTAAAAATCTCATCTTCTGGGTCTGGATACTCAAAAACAGATCTTGATTAACAGCCCCTTCCCCACATTGCCCTGGGCAGAAAATGCAAGTCAACTCTCCCCCTCTCAGCTCCAGGAGCTCCGGCATGAGAACGTGGCCCTCTACCTGGGGCTTTTCCTGGCTCGGGGAGCAGAAGGCCCTGCGGCCCTCTGGGAGGGCAACCTGGCTGTGGTCTCAGAGCACTGCACGCGGGGCTCTCTTCAGGACCTCCTCGCTCAGAGAGAAATAAAGCTGGACTGGATGTTCAAGTCCTCCCTCCTGCTGGACCTTATCAAGGTGTGTGTCTGGGGGTGGTGGGGTGACGTCCTGGGGGCAGGGATGGGGAGCAAGGGAACCAAGCAGGCTGAGGCTGCCTCTTACCCTACCCATTCCAAGGGAATAAGGTATCTGCACCATCGAGGCGTGGCTCATGGGCGGCTGAAGTCACGGAACTGCATAGTGGATGGCAGATTCGTACTCAAGATCACTGACCACGGCCACGGGAGACTGCTGGAAGCACAGAAGGTGCTACCGGAGCCTCCCAGAGCGGAGGGTAAGAGTCCCCTGTGCAGACGAGGATCCACCGGGATCCCCATTATTTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTTGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCC 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Task1_train_23656 | Consider a variant on Chromosome 17 in gene GUCY2D (guanylate cyclase 2D, retinal). Determine its clinical classification and disease relevance. | Pathogenic; Cone-rod dystrophy 6 | TTTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAA 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TTTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGAGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAA 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Task1_train_23657 | Chromosome 17 houses a mutation in gene GUCY2D (guanylate cyclase 2D, retinal). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Leber congenital amaurosis 1 | TTTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAA 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TTTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGAGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAA 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Task1_train_23658 | A change on Chromosome 17 affects gene GUCY2D (guanylate cyclase 2D, retinal). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Leber congenital amaurosis 1 | TTTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAA 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TTTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGGGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAA 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Task1_train_23659 | Gene GUCY2D (guanylate cyclase 2D, retinal), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Cone-rod dystrophy 6 | TTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAA 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TTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCCCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAA 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Task1_train_23660 | This variant impacts the gene GUCY2D (guanylate cyclase 2D, retinal) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Leber congenital amaurosis 1 | TTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAA 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TTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCCCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAA 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Task1_train_23661 | A mutation on Chromosome 17 affecting GUCY2D (guanylate cyclase 2D, retinal) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Retinal dystrophy | TTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAA 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TTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCCCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAA 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Task1_train_23662 | Chromosome 17 houses a mutation in gene GUCY2D (guanylate cyclase 2D, retinal). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not specified | TTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAA 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TTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCCCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAA 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Task1_train_23663 | Gene GUCY2D (guanylate cyclase 2D, retinal) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Leber congenital amaurosis 1 | CCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATC 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CCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAACCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATC 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Task1_train_23664 | Mutation context: Chromosome 17, Gene GUCY2D (guanylate cyclase 2D, retinal). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Cone-rod dystrophy 6 | CCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATC 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CCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAACCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATC 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Task1_train_23665 | This sequence change occurs on Chromosome 17, altering GUCY2D (guanylate cyclase 2D, retinal). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Cone-rod dystrophy 6 | GTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATCGGGGCCTTCTGTGGCCCCTCCCCTGGCCCTATCTCATCCCCAGTGCATAAACCTGGCTTCCGCAGAAGCCTCACAGGCTGTGCACTGCACAAGAGACAACTCTAGGGGGCAGCAGTCACCAGAGAACAATGTGAAAGCAGAAGCCGTGCCCACT 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GTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAACACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATCGGGGCCTTCTGTGGCCCCTCCCCTGGCCCTATCTCATCCCCAGTGCATAAACCTGGCTTCCGCAGAAGCCTCACAGGCTGTGCACTGCACAAGAGACAACTCTAGGGGGCAGCAGTCACCAGAGAACAATGTGAAAGCAGAAGCCGTGCCCACT 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Task1_train_23666 | A change on Chromosome 17 affects gene GUCY2D (guanylate cyclase 2D, retinal). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Cone-rod dystrophy 6 | GTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATCGGGGCCTTCTGTGGCCCCTCCCCTGGCCCTATCTCATCCCCAGTGCATAAACCTGGCTTCCGCAGAAGCCTCACAGGCTGTGCACTGCACAAGAGACAACTCTAGGGGGCAGCAGTCACCAGAGAACAATGTGAAAGCAGAAGCCGTGCCCACT | GTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAACACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATCGGGGCCTTCTGTGGCCCCTCCCCTGGCCCTATCTCATCCCCAGTGCATAAACCTGGCTTCCGCAGAAGCCTCACAGGCTGTGCACTGCACAAGAGACAACTCTAGGGGGCAGCAGTCACCAGAGAACAATGTGAAAGCAGAAGCCGTGCCCACT 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Task1_train_23667 | Consider a variant on Chromosome 17 in gene GUCY2D (guanylate cyclase 2D, retinal). Determine its clinical classification and disease relevance. | Pathogenic; Leber congenital amaurosis 1 | GTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATCGGGGCCTTCTGTGGCCCCTCCCCTGGCCCTATCTCATCCCCAGTGCATAAACCTGGCTTCCGCAGAAGCCTCACAGGCTGTGCACTGCACAAGAGACAACTCTAGGGGGCAGCAGTCACCAGAGAACAATGTGAAAGCAGAAGCCGTGCCCACT 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GTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAACACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATCGGGGCCTTCTGTGGCCCCTCCCCTGGCCCTATCTCATCCCCAGTGCATAAACCTGGCTTCCGCAGAAGCCTCACAGGCTGTGCACTGCACAAGAGACAACTCTAGGGGGCAGCAGTCACCAGAGAACAATGTGAAAGCAGAAGCCGTGCCCACT 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Task1_train_23668 | Here is a mutation in GUCY2D (guanylate cyclase 2D, retinal) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Night blindness, congenital stationary, type1i | GCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATCGGGGCCTTCTGTGGCCCCTCCCCTGGCCCTATCTCATCCCCAGTGCATAAACCTGGCTTCCGCAGAAGCCTCACAGGCTGTGCACTGCACAAGAGACAACTCTAGGGGGCAGCAGTCACCAGAGAACAATGTGAAAGCAGAAGCCGTGCCCACTCCCCTCCTGCAAGAAACTGACCCGTGACCCGCTCCTTCCTAGGTGAACCCCCATGACCCCTTTCCTCGACTCCCCTCTGAGATACCCCTCTTTTCTTCAGGATTGTTCTGGAAGGTCCTTTTCCTGAAAGTTG 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GCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACATTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATCGGGGCCTTCTGTGGCCCCTCCCCTGGCCCTATCTCATCCCCAGTGCATAAACCTGGCTTCCGCAGAAGCCTCACAGGCTGTGCACTGCACAAGAGACAACTCTAGGGGGCAGCAGTCACCAGAGAACAATGTGAAAGCAGAAGCCGTGCCCACTCCCCTCCTGCAAGAAACTGACCCGTGACCCGCTCCTTCCTAGGTGAACCCCCATGACCCCTTTCCTCGACTCCCCTCTGAGATACCCCTCTTTTCTTCAGGATTGTTCTGGAAGGTCCTTTTCCTGAAAGTTG 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Task1_train_23669 | A variant affecting Chromosome 17, within the gene GUCY2D (guanylate cyclase 2D, retinal), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Cone-rod dystrophy 6 | CAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATCGGGGCCTTCTGTGGCCCCTCCCCTGGCCCTATCTCATCCCCAGTGCATAAACCTGGCTTCCGCAGAAGCCTCACAGGCTGTGCACTGCACAAGAGACAACTCTAGGGGGCAGCAGTCACCAGAGAACAATGTGAAAGCAGAAGCCGTGCCCACTCCCCTCCTGCAAGAAACTGACCCGTGACCCGCTCCTTCCTAGGTGAACCCCCATGACCCCTTTCCTCGACTCCCCTCTGAGATACCCCTCTTTTCTTCAGGATTGTTCTGGAAGGTCCTTTTCCTGAAAGTTGCTGCTATAGGTGACTGGAAGTCTGTCTAATGCTGGTGGACTCTGCCCAGCTCTGCCTCAAAGGATTTTGGGCCTTTTACAAGAGCTGGTTGCAAAACCAGCCATGTGACCTTGGGAAAGTGTCACGCATGCTCTGCTGTGATCCCTTCAGTGGCAAAATGGGGGGTGGCCTAAGTGGTTCCCAAGGCCCCTGTGCACCTGACAGCTGGGTGGCTTGTGGCCCTCACCCCCAGGAGCCCTGAGTCCAGCAGGGGATGTGAGGGTCAGGGATTCTCCGCTTCCCAGTGTCTCTCAGGGACCCAGGAAGGAGGATCTGGGATTGATGCCCGACCCCAGAGGAAGTGGAGTTCTGTTCCACCAGAGCAGGGTTTGTCACATGGCCTGAGGGGGCA 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CAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGACCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATCGGGGCCTTCTGTGGCCCCTCCCCTGGCCCTATCTCATCCCCAGTGCATAAACCTGGCTTCCGCAGAAGCCTCACAGGCTGTGCACTGCACAAGAGACAACTCTAGGGGGCAGCAGTCACCAGAGAACAATGTGAAAGCAGAAGCCGTGCCCACTCCCCTCCTGCAAGAAACTGACCCGTGACCCGCTCCTTCCTAGGTGAACCCCCATGACCCCTTTCCTCGACTCCCCTCTGAGATACCCCTCTTTTCTTCAGGATTGTTCTGGAAGGTCCTTTTCCTGAAAGTTGCTGCTATAGGTGACTGGAAGTCTGTCTAATGCTGGTGGACTCTGCCCAGCTCTGCCTCAAAGGATTTTGGGCCTTTTACAAGAGCTGGTTGCAAAACCAGCCATGTGACCTTGGGAAAGTGTCACGCATGCTCTGCTGTGATCCCTTCAGTGGCAAAATGGGGGGTGGCCTAAGTGGTTCCCAAGGCCCCTGTGCACCTGACAGCTGGGTGGCTTGTGGCCCTCACCCCCAGGAGCCCTGAGTCCAGCAGGGGATGTGAGGGTCAGGGATTCTCCGCTTCCCAGTGTCTCTCAGGGACCCAGGAAGGAGGATCTGGGATTGATGCCCGACCCCAGAGGAAGTGGAGTTCTGTTCCACCAGAGCAGGGTTTGTCACATGGCCTGAGGGGGCA 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Task1_train_23670 | This variant lies on Chromosome 17 and affects the gene GUCY2D (guanylate cyclase 2D, retinal). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Congenital blindness | CAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATCGGGGCCTTCTGTGGCCCCTCCCCTGGCCCTATCTCATCCCCAGTGCATAAACCTGGCTTCCGCAGAAGCCTCACAGGCTGTGCACTGCACAAGAGACAACTCTAGGGGGCAGCAGTCACCAGAGAACAATGTGAAAGCAGAAGCCGTGCCCACTCCCCTCCTGCAAGAAACTGACCCGTGACCCGCTCCTTCCTAGGTGAACCCCCATGACCCCTTTCCTCGACTCCCCTCTGAGATACCCCTCTTTTCTTCAGGATTGTTCTGGAAGGTCCTTTTCCTGAAAGTTGCTGCTATAGGTGACTGGAAGTCTGTCTAATGCTGGTGGACTCTGCCCAGCTCTGCCTCAAAGGATTTTGGGCCTTTTACAAGAGCTGGTTGCAAAACCAGCCATGTGACCTTGGGAAAGTGTCACGCATGCTCTGCTGTGATCCCTTCAGTGGCAAAATGGGGGGTGGCCTAAGTGGTTCCCAAGGCCCCTGTGCACCTGACAGCTGGGTGGCTTGTGGCCCTCACCCCCAGGAGCCCTGAGTCCAGCAGGGGATGTGAGGGTCAGGGATTCTCCGCTTCCCAGTGTCTCTCAGGGACCCAGGAAGGAGGATCTGGGATTGATGCCCGACCCCAGAGGAAGTGGAGTTCTGTTCCACCAGAGCAGGGTTTGTCACATGGCCTGAGGGGGCAAGGGCTCCTGTTTAGCCTCAAGCTTCATTCCTATCTCCATCTCCCACCAGTCAGAAACTGGCTGCTTCTCCTGTGGGTATAATCAGGGAACTTGCCCAAGTGCAGAGAAAAGCTTGCTTCAATGCTTTGAGGAAAGGAAATTGTGCCACACCTTGACTGACCAGAACATCCAAAGAGCGGCATTCTCTGTTTAACTAGGAGCTGCTGAGCAAGCAGTTGGACAGAAAATCCTCTCTGCTTAGAATTTTTTCTTTTTTTTTGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGCAGTGACACAATCTCGACTCATTGCAACCTCCTCCTCTCAGGTTCAAGTGATTCTCCTACCTCAGCCTGCCGAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCGGGTAATTTTTTTGTGTG 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CAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCAAGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATCGGGGCCTTCTGTGGCCCCTCCCCTGGCCCTATCTCATCCCCAGTGCATAAACCTGGCTTCCGCAGAAGCCTCACAGGCTGTGCACTGCACAAGAGACAACTCTAGGGGGCAGCAGTCACCAGAGAACAATGTGAAAGCAGAAGCCGTGCCCACTCCCCTCCTGCAAGAAACTGACCCGTGACCCGCTCCTTCCTAGGTGAACCCCCATGACCCCTTTCCTCGACTCCCCTCTGAGATACCCCTCTTTTCTTCAGGATTGTTCTGGAAGGTCCTTTTCCTGAAAGTTGCTGCTATAGGTGACTGGAAGTCTGTCTAATGCTGGTGGACTCTGCCCAGCTCTGCCTCAAAGGATTTTGGGCCTTTTACAAGAGCTGGTTGCAAAACCAGCCATGTGACCTTGGGAAAGTGTCACGCATGCTCTGCTGTGATCCCTTCAGTGGCAAAATGGGGGGTGGCCTAAGTGGTTCCCAAGGCCCCTGTGCACCTGACAGCTGGGTGGCTTGTGGCCCTCACCCCCAGGAGCCCTGAGTCCAGCAGGGGATGTGAGGGTCAGGGATTCTCCGCTTCCCAGTGTCTCTCAGGGACCCAGGAAGGAGGATCTGGGATTGATGCCCGACCCCAGAGGAAGTGGAGTTCTGTTCCACCAGAGCAGGGTTTGTCACATGGCCTGAGGGGGCAAGGGCTCCTGTTTAGCCTCAAGCTTCATTCCTATCTCCATCTCCCACCAGTCAGAAACTGGCTGCTTCTCCTGTGGGTATAATCAGGGAACTTGCCCAAGTGCAGAGAAAAGCTTGCTTCAATGCTTTGAGGAAAGGAAATTGTGCCACACCTTGACTGACCAGAACATCCAAAGAGCGGCATTCTCTGTTTAACTAGGAGCTGCTGAGCAAGCAGTTGGACAGAAAATCCTCTCTGCTTAGAATTTTTTCTTTTTTTTTGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGCAGTGACACAATCTCGACTCATTGCAACCTCCTCCTCTCAGGTTCAAGTGATTCTCCTACCTCAGCCTGCCGAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCGGGTAATTTTTTTGTGTG 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Task1_train_23671 | This genomic variant is located on Chromosome 17, within the GUCY2D (guanylate cyclase 2D, retinal) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Leber congenital amaurosis 1 | TCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATCGGGGCCTTCTGTGGCCCCTCCCCTGGCCCTATCTCATCCCCAGTGCATAAACCTGGCTTCCGCAGAAGCCTCACAGGCTGTGCACTGCACAAGAGACAACTCTAGGGGGCAGCAGTCACCAGAGAACAATGTGAAAGCAGAAGCCGTGCCCACTCCCCTCCTGCAAGAAACTGACCCGTGACCCGCTCCTTCCTAGGTGAACCCCCATGACCCCTTTCCTCGACTCCCCTCTGAGATACCCCTCTTTTCTTCAGGATTGTTCTGGAAGGTCCTTTTCCTGAAAGTTGCTGCTATAGGTGACTGGAAGTCTGTCTAATGCTGGTGGACTCTGCCCAGCTCTGCCTCAAAGGATTTTGGGCCTTTTACAAGAGCTGGTTGCAAAACCAGCCATGTGACCTTGGGAAAGTGTCACGCATGCTCTGCTGTGATCCCTTCAGTGGCAAAATGGGGGGTGGCCTAAGTGGTTCCCAAGGCCCCTGTGCACCTGACAGCTGGGTGGCTTGTGGCCCTCACCCCCAGGAGCCCTGAGTCCAGCAGGGGATGTGAGGGTCAGGGATTCTCCGCTTCCCAGTGTCTCTCAGGGACCCAGGAAGGAGGATCTGGGATTGATGCCCGACCCCAGAGGAAGTGGAGTTCTGTTCCACCAGAGCAGGGTTTGTCACATGGCCTGAGGGGGCAAGGGCTCCTGTTTAGCCTCAAGCTTCATTCCTATCTCCATCTCCCACCAGTCAGAAACTGGCTGCTTCTCCTGTGGGTATAATCAGGGAACTTGCCCAAGTGCAGAGAAAAGCTTGCTTCAATGCTTTGAGGAAAGGAAATTGTGCCACACCTTGACTGACCAGAACATCCAAAGAGCGGCATTCTCTGTTTAACTAGGAGCTGCTGAGCAAGCAGTTGGACAGAAAATCCTCTCTGCTTAGAATTTTTTCTTTTTTTTTGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGCAGTGACACAATCTCGACTCATTGCAACCTCCTCCTCTCAGGTTCAAGTGATTCTCCTACCTCAGCCTGCCGAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCGGGTAATTTTTTTGTGTGATTTTAGTAGA 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TCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCAGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATCGGGGCCTTCTGTGGCCCCTCCCCTGGCCCTATCTCATCCCCAGTGCATAAACCTGGCTTCCGCAGAAGCCTCACAGGCTGTGCACTGCACAAGAGACAACTCTAGGGGGCAGCAGTCACCAGAGAACAATGTGAAAGCAGAAGCCGTGCCCACTCCCCTCCTGCAAGAAACTGACCCGTGACCCGCTCCTTCCTAGGTGAACCCCCATGACCCCTTTCCTCGACTCCCCTCTGAGATACCCCTCTTTTCTTCAGGATTGTTCTGGAAGGTCCTTTTCCTGAAAGTTGCTGCTATAGGTGACTGGAAGTCTGTCTAATGCTGGTGGACTCTGCCCAGCTCTGCCTCAAAGGATTTTGGGCCTTTTACAAGAGCTGGTTGCAAAACCAGCCATGTGACCTTGGGAAAGTGTCACGCATGCTCTGCTGTGATCCCTTCAGTGGCAAAATGGGGGGTGGCCTAAGTGGTTCCCAAGGCCCCTGTGCACCTGACAGCTGGGTGGCTTGTGGCCCTCACCCCCAGGAGCCCTGAGTCCAGCAGGGGATGTGAGGGTCAGGGATTCTCCGCTTCCCAGTGTCTCTCAGGGACCCAGGAAGGAGGATCTGGGATTGATGCCCGACCCCAGAGGAAGTGGAGTTCTGTTCCACCAGAGCAGGGTTTGTCACATGGCCTGAGGGGGCAAGGGCTCCTGTTTAGCCTCAAGCTTCATTCCTATCTCCATCTCCCACCAGTCAGAAACTGGCTGCTTCTCCTGTGGGTATAATCAGGGAACTTGCCCAAGTGCAGAGAAAAGCTTGCTTCAATGCTTTGAGGAAAGGAAATTGTGCCACACCTTGACTGACCAGAACATCCAAAGAGCGGCATTCTCTGTTTAACTAGGAGCTGCTGAGCAAGCAGTTGGACAGAAAATCCTCTCTGCTTAGAATTTTTTCTTTTTTTTTGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGCAGTGACACAATCTCGACTCATTGCAACCTCCTCCTCTCAGGTTCAAGTGATTCTCCTACCTCAGCCTGCCGAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCGGGTAATTTTTTTGTGTGATTTTAGTAGA 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Task1_train_23672 | Mutation context: Chromosome 17, Gene GUCY2D (guanylate cyclase 2D, retinal). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Cone-rod dystrophy 6 | TCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATCGGGGCCTTCTGTGGCCCCTCCCCTGGCCCTATCTCATCCCCAGTGCATAAACCTGGCTTCCGCAGAAGCCTCACAGGCTGTGCACTGCACAAGAGACAACTCTAGGGGGCAGCAGTCACCAGAGAACAATGTGAAAGCAGAAGCCGTGCCCACTCCCCTCCTGCAAGAAACTGACCCGTGACCCGCTCCTTCCTAGGTGAACCCCCATGACCCCTTTCCTCGACTCCCCTCTGAGATACCCCTCTTTTCTTCAGGATTGTTCTGGAAGGTCCTTTTCCTGAAAGTTGCTGCTATAGGTGACTGGAAGTCTGTCTAATGCTGGTGGACTCTGCCCAGCTCTGCCTCAAAGGATTTTGGGCCTTTTACAAGAGCTGGTTGCAAAACCAGCCATGTGACCTTGGGAAAGTGTCACGCATGCTCTGCTGTGATCCCTTCAGTGGCAAAATGGGGGGTGGCCTAAGTGGTTCCCAAGGCCCCTGTGCACCTGACAGCTGGGTGGCTTGTGGCCCTCACCCCCAGGAGCCCTGAGTCCAGCAGGGGATGTGAGGGTCAGGGATTCTCCGCTTCCCAGTGTCTCTCAGGGACCCAGGAAGGAGGATCTGGGATTGATGCCCGACCCCAGAGGAAGTGGAGTTCTGTTCCACCAGAGCAGGGTTTGTCACATGGCCTGAGGGGGCAAGGGCTCCTGTTTAGCCTCAAGCTTCATTCCTATCTCCATCTCCCACCAGTCAGAAACTGGCTGCTTCTCCTGTGGGTATAATCAGGGAACTTGCCCAAGTGCAGAGAAAAGCTTGCTTCAATGCTTTGAGGAAAGGAAATTGTGCCACACCTTGACTGACCAGAACATCCAAAGAGCGGCATTCTCTGTTTAACTAGGAGCTGCTGAGCAAGCAGTTGGACAGAAAATCCTCTCTGCTTAGAATTTTTTCTTTTTTTTTGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGCAGTGACACAATCTCGACTCATTGCAACCTCCTCCTCTCAGGTTCAAGTGATTCTCCTACCTCAGCCTGCCGAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCGGGTAATTTTTTTGTGTGATTTTAGTAGA 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TCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCAGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATCGGGGCCTTCTGTGGCCCCTCCCCTGGCCCTATCTCATCCCCAGTGCATAAACCTGGCTTCCGCAGAAGCCTCACAGGCTGTGCACTGCACAAGAGACAACTCTAGGGGGCAGCAGTCACCAGAGAACAATGTGAAAGCAGAAGCCGTGCCCACTCCCCTCCTGCAAGAAACTGACCCGTGACCCGCTCCTTCCTAGGTGAACCCCCATGACCCCTTTCCTCGACTCCCCTCTGAGATACCCCTCTTTTCTTCAGGATTGTTCTGGAAGGTCCTTTTCCTGAAAGTTGCTGCTATAGGTGACTGGAAGTCTGTCTAATGCTGGTGGACTCTGCCCAGCTCTGCCTCAAAGGATTTTGGGCCTTTTACAAGAGCTGGTTGCAAAACCAGCCATGTGACCTTGGGAAAGTGTCACGCATGCTCTGCTGTGATCCCTTCAGTGGCAAAATGGGGGGTGGCCTAAGTGGTTCCCAAGGCCCCTGTGCACCTGACAGCTGGGTGGCTTGTGGCCCTCACCCCCAGGAGCCCTGAGTCCAGCAGGGGATGTGAGGGTCAGGGATTCTCCGCTTCCCAGTGTCTCTCAGGGACCCAGGAAGGAGGATCTGGGATTGATGCCCGACCCCAGAGGAAGTGGAGTTCTGTTCCACCAGAGCAGGGTTTGTCACATGGCCTGAGGGGGCAAGGGCTCCTGTTTAGCCTCAAGCTTCATTCCTATCTCCATCTCCCACCAGTCAGAAACTGGCTGCTTCTCCTGTGGGTATAATCAGGGAACTTGCCCAAGTGCAGAGAAAAGCTTGCTTCAATGCTTTGAGGAAAGGAAATTGTGCCACACCTTGACTGACCAGAACATCCAAAGAGCGGCATTCTCTGTTTAACTAGGAGCTGCTGAGCAAGCAGTTGGACAGAAAATCCTCTCTGCTTAGAATTTTTTCTTTTTTTTTGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGCAGTGACACAATCTCGACTCATTGCAACCTCCTCCTCTCAGGTTCAAGTGATTCTCCTACCTCAGCCTGCCGAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCGGGTAATTTTTTTGTGTGATTTTAGTAGA 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Task1_train_23673 | Here is a genetic alteration in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | CCCCTTGAAGACCTCAGGGACTCCCCCTATATGAACATCCACAGCAGGAGCTCCTTCCTCAGCAGGGGTCTGCACATCCTACTATGGCTGGGGATGGAGGGCCCTTTGGGAACCAGTGGATGAGATGAACCCAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTCAACTTGAAAAACAAACAGAAAAACCTTGCCAGCTGATCAAAACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCT 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CCCCTTGAAGACCTCAGGGACTCCCCCTATATGAACATCCACAGCAGGAGCTCCTTCCTCAGCAGGGGTCTGCACATCCTACTATGGCTGGGGATGGAGGGCCCTTTGGGAACCAGTGGATGAGATGAACCCAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTCAACTTGAAAAACAAACAGAAAAACCTTGCCAGCTGATCAAAACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATTCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCT 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Task1_train_23674 | This variant affects gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Autosomal recessive congenital ichthyosis 2 | ACATCCACAGCAGGAGCTCCTTCCTCAGCAGGGGTCTGCACATCCTACTATGGCTGGGGATGGAGGGCCCTTTGGGAACCAGTGGATGAGATGAACCCAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTCAACTTGAAAAACAAACAGAAAAACCTTGCCAGCTGATCAAAACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGC | ACATCCACAGCAGGAGCTCCTTCCTCAGCAGGGGTCTGCACATCCTACTATGGCTGGGGATGGAGGGCCCTTTGGGAACCAGTGGATGAGATGAACCCAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTCAACTTGAAAAACAAACAGAAAAACCTTGCCAGCTGATCAAAACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGCAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGC 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Task1_train_23675 | A mutation in ALOX12B (arachidonate 12-lipoxygenase, 12R type), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Autosomal recessive congenital ichthyosis 2 | TCAGCAGGGGTCTGCACATCCTACTATGGCTGGGGATGGAGGGCCCTTTGGGAACCAGTGGATGAGATGAACCCAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTCAACTTGAAAAACAAACAGAAAAACCTTGCCAGCTGATCAAAACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAG | TCAGCAGGGGTCTGCACATCCTACTATGGCTGGGGATGGAGGGCCCTTTGGGAACCAGTGGATGAGATGAACCCAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTCAACTTGAAAAACAAACAGAAAAACCTTGCCAGCTGATCAAAACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGAGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAG 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Task1_train_23676 | This variant affects gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Autosomal recessive congenital ichthyosis 2 | TCAGCAGGGGTCTGCACATCCTACTATGGCTGGGGATGGAGGGCCCTTTGGGAACCAGTGGATGAGATGAACCCAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTCAACTTGAAAAACAAACAGAAAAACCTTGCCAGCTGATCAAAACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAG 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TCAGCAGGGGTCTGCACATCCTACTATGGCTGGGGATGGAGGGCCCTTTGGGAACCAGTGGATGAGATGAACCCAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTCAACTTGAAAAACAAACAGAAAAACCTTGCCAGCTGATCAAAACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGTGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAG 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Task1_train_23677 | Here is a genetic alteration in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | CAGCAGGGGTCTGCACATCCTACTATGGCTGGGGATGGAGGGCCCTTTGGGAACCAGTGGATGAGATGAACCCAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTCAACTTGAAAAACAAACAGAAAAACCTTGCCAGCTGATCAAAACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGT 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CAGCAGGGGTCTGCACATCCTACTATGGCTGGGGATGGAGGGCCCTTTGGGAACCAGTGGATGAGATGAACCCAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTCAACTTGAAAAACAAACAGAAAAACCTTGCCAGCTGATCAAAACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCTCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGT 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Task1_train_23678 | Given this variant in gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Autosomal recessive congenital ichthyosis 2 | TGGAGGGCCCTTTGGGAACCAGTGGATGAGATGAACCCAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTCAACTTGAAAAACAAACAGAAAAACCTTGCCAGCTGATCAAAACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTT 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TGGAGGGCCCTTTGGGAACCAGTGGATGAGATGAACCCAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTCAACTTGAAAAACAAACAGAAAAACCTTGCCAGCTGATCAAAACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCGGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTT 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Task1_train_23679 | Gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | CAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTCAACTTGAAAAACAAACAGAAAAACCTTGCCAGCTGATCAAAACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGA 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CAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTCAACTTGAAAAACAAACAGAAAAACCTTGCCAGCTGATCAAAACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTTCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGA 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Task1_train_23680 | The variant affects gene ALOX12B (arachidonate 12-lipoxygenase, 12R type), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Autosomal recessive congenital ichthyosis 2 | CCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTCAACTTGAAAAACAAACAGAAAAACCTTGCCAGCTGATCAAAACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCT 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CCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTCAACTTGAAAAACAAACAGAAAAACCTTGCCAGCTGATCAAAACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCTCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCT 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Task1_train_23681 | This sequence change occurs on Chromosome 17, altering ALOX12B (arachidonate 12-lipoxygenase, 12R type). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | ACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGC 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ACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGATCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGC 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Task1_train_23682 | A genomic change on Chromosome 17 affects ALOX12B (arachidonate 12-lipoxygenase, 12R type). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Autosomal recessive congenital ichthyosis 2 | AGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCC 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AGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATACGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCC 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Task1_train_23683 | A mutation in ALOX12B (arachidonate 12-lipoxygenase, 12R type), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Ichthyosis | ATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTT 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ATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCTGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTT 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Task1_train_23684 | Given a variant located on Chromosome 17 and affecting ALOX12B (arachidonate 12-lipoxygenase, 12R type), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not specified | ATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTT 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ATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCTGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTT 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Task1_train_23685 | Located on Chromosome 17, this mutation impacts ALOX12B (arachidonate 12-lipoxygenase, 12R type). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | ATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGT 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ATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGATCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGT 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Task1_train_23686 | This variant affects gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Autosomal recessive congenital ichthyosis 2 | GTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAG | GTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCGTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAG 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Task1_train_23687 | Mutation context: Chromosome 17, Gene ALOX12B (arachidonate 12-lipoxygenase, 12R type). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Autosomal recessive congenital ichthyosis 2 | GATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGG | GATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGAATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGG 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Task1_train_23688 | This variant lies on Chromosome 17 and affects the gene ALOX12B (arachidonate 12-lipoxygenase, 12R type). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | CTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAG 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CTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTAGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAG 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Task1_train_23689 | This genomic variant is located on Chromosome 17, within the ALOX12B (arachidonate 12-lipoxygenase, 12R type) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | CCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACC 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CCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGCCAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACC 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Task1_train_23690 | Given a variant located on Chromosome 17 and affecting ALOX12B (arachidonate 12-lipoxygenase, 12R type), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Autosomal recessive congenital ichthyosis 2 | TCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGG | TCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCTTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGG 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Task1_train_23691 | A mutation found in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | ACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGG | ACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTACTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGG 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Task1_train_23692 | Given a variant located on Chromosome 17 and affecting ALOX12B (arachidonate 12-lipoxygenase, 12R type), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Autosomal recessive congenital ichthyosis 2 | CATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCC 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CATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATGGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCC 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Task1_train_23693 | Chromosome 17 houses a mutation in gene ALOX12B (arachidonate 12-lipoxygenase, 12R type). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | GAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCA 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GAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGATTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCA 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Task1_train_23694 | Given this variant in gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not specified | TGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGC 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TGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGCGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGC 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Task1_train_23695 | This gene mutation involves ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | TGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACAT 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TGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCGCTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACAT 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Task1_train_23696 | The gene ALOX12B (arachidonate 12-lipoxygenase, 12R type), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | TTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCT 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TTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCGGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCT 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Task1_train_23697 | The following genetic variant occurs in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not specified | TAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAG 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TAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTTCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAG 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Task1_train_23698 | Consider a variant on Chromosome 17 in gene ALOX12B (arachidonate 12-lipoxygenase, 12R type). Determine its clinical classification and disease relevance. | Pathogenic; Lamellar ichthyosis | TGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGC | TGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGCAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGC |
Task1_train_23699 | Consider a variant on Chromosome 17 in gene ALOX12B (arachidonate 12-lipoxygenase, 12R type). Determine its clinical classification and disease relevance. | Pathogenic; Ichthyosis | TGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGC | TGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGCAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGC 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