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_28800 | The gene PLA2G6 (phospholipase A2 group VI), on Chromosome 22, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Infantile neuroaxonal dystrophy | CCAGGGGTTGCTGGGACGGAAGACATCCACACAGGTCACAGGCACTTGTGGGGACCTCCCTGTCCCCAGGGAGACAACGATGGAGAGTTTCTTCACCTTGTTGGCCTGACCCTGTTGGGAACAGGACAGGGGCAGTCAGAAGAGACCTTCCACAGGTAGGGGGCACGAAGGGGAGCGTCAAGGGGAGGCCCAAGACTGGGCTCTGGGGCACATGAGAACAGGGCAAGAGGTCTCTGGTGGCAAGAGCATGCCTGGCATGATTTCCAGCCAGCCTCTTGCACGTGACCCCAGAACGGCTGGTGCGGGCATCACATGCCATCTGCTCAGGACAGCATCTGTGTACCAACAGGACCACACATACACCAGCTGCAAGAAGGATCCCGCCCACCCCATCTGATGCTGGCCCAAGTCAAGTCGTGGCCAGGGGAGGAAAGGCAGACGGTGTTCCTTGGTGTTGGTGATTTGCCAGGTATTTGCATCATTACTTCATTTAATCTCCAGCCAGTCTGTGGAGAGGGCACTGATCACCCAGTTTGCAAATGAGGGCTCTCAGCGAAGCTCAGGCCGGGAAGCAGCTGCAGGGGCCACGTGGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGCTGCCTCTCTTATTTGCTTCCGAACAAGCTCTGCTGCCGATTTGCTGGATGATCTTGGGTGATGCCTCCCACTCTGGGTCCCAGGCTCCCCATCCGCACGCAATAGGAGAGTTAGACTGGCTAGTGTCTGACAGTCTGACGGTCTCTGCCGCCTGCAGGAAGCCCGCCCTGCCCGATCTGGCCCCTAGAGGGCGCTTCTCTGTCTGCCCAGAGCCTCTGCTGCGCTGCCCAGGACGCCCTGGGGCTTCGGGAAACCACAGCAGCAAGGATGCAGCTCAGGCTCCCGGCAGTGCTGTGAACATTTCACAGACAACAGCATGCCAAGGCCTCGCAGCCTCCCCAGGCAGGCGCTATGATGGCCCCATTAGGTAGCTGCAGTGAGTGCAGGCAGAACGGGGACCCCCAGAGGCGCCCTGGCTCCAGGGTCTGAGCTCAGCCACCGCGCTCGCCCACCCCGGTCACCCACCGCCCGCCACGCCACAGGGCCTCCCCTAGCATGCTGGGTCCTGCCAGCCTCTGCTGTACCTCTGCAGAGAGAGGGCTGCTGCTCTTCCTCCAGATCACTGATTCTGCACTGCTCTGTCCCCAAGGGCCTCAGGATGGGTCCCCTGTTCCATGGAGCCCTTTCCGAGCCCCCAGGCCTTTTAGCAGAGGCCTCACGGTCCTCCACCACAGCACCGGCAACCCGTGGGGACAGGCATTCCTGTGGGACTGTCTATCCACAGAGGTGAGCTCAAGGGCAAGCATGTGTCCTGTCCCCAGGCTGGCTCGAGTGGCACGTTCATGGTATGCATGCCGCCCTCCCCACTCATGCACACTTAGAGCACAGTGGTCCTCAGATCCCCCTTAGCACAGTGCTTCAGGCAGATCCCACCCATGGAACAGGTTCCAGTGAGATCAATTTGCCCTGTGTGCACATATGAATGAGTGCGTGTGTAAAAGCCACCTGCTGTCCTGGGGGTCGGTCCCTAGCATGGTTTGCTGACACAGGATTGGCTCCAGGGAGCAGTGGGTCCAGGCCCTCTGGCCTACGGCACTCACCTTGCGGATCAGGTCCTGATTGTACTCATGGATCTCGGTCATGGCATCCAGCGTGGGGTTGTTGGCCAGCAGCCCACCGTCCAGGAAGCGCCCATTGGGTCGGAAGTAAGTAGGAGCTGCCCCGCTGCTTCGGGCCGCCCGCCACACCAGCTGGTCTAGGGGCGGGGAAGGAGGGCGGCCCAGTGGCACAAGGGACTGGCATAAAACCCATGCACTCCAGATCTCAGGGTGTGCGTGTTGGGGGCTGGGGGTGCGGGAAGAGGGGAGGCTGGGAACTCTTCAGAAGCAGGACCCACGAAGCCACACTCTCTGGCTAGTTCGTCCTGGTGGAAGGCAGGTACAGCTGAGGACTTTCCAGGGACTTTTCTAACCTGCCAGGGGCCTGACAGCTCCCCCGCAATCCCTGTCCTCAGCCAATAAAGACCAGTGCAGCGGGTGGGCTGGTGGCACGGTGAGGGTGCCTGATGGCAAGTGCACGACTCCCACCCACCACCCCACAGCCTCTCGGGCCAGTCGCTTCCCATGGATGCATCAAACATGGTTTAAACCTGAGGGCTGAGCTGGAGGCCTGAGGTTAACGTTCTGGTTGAAACGAGGCTCCCGGACAGTTTCTGGAGCATCGTAGTTCCGGAAGAGGTGGAGTTCAGCCGGCTGCCGGTCAGACAGTGTCCCTGTCAGCATCACCCTGGAGAGAAATGAGGCAGGAGGACGGCTGAGCCACCCGCCCATCCACCTTTCCCTTTCCCCACAATTCACACCCCAGGGCCTTGGGTAGCAGAGTGCCCACTCCAACCTCTGTTCGGGATAGGTGGGCTTCTCCCCGCACCATCCCCGCAAAACAGGCTCTCTCCGGCAGTGCTGGAGGAGTGTCAGATTGGTCCAACCTTGGGGGCACAATTCAGCAAAAGTTGGTTTTTTTGAAAGGCTAATCCAATGGAAAAACCTGTTGCAAGACTGATAAAACATGGCTGTTATCTGTTATCAAAATCAGGAAAGAAAAGGGGGCCGCACCAACACACACTGCAGACGTTAGAAAAAGGAGAATCGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCCCGTCTCTACTAATAATACAAAAATTAGGTGTGGTTGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGTCATTGCACTCCAGCCTGGGCGATAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAACAGAATATTTTGAACAACTCTAAGCCAATAAGCTTAAAGATTTAGATGAAATGGACACATTCCTAGAAAAACCTCACTTAACCAAAACTAACTCAAAAAGGTATTTAGAAACCCCGAGTGGTCAGTCTCACAACCACTATAGAAATTAATTCCATCATCAAAAATCCTCCCACCAAGCAAACTCCAGGCCTAGAAGAATTTACTATCAAGTTCTACCATAAATTCAAAATAAACTATTATACTAACTCTTCCAAGAAAAATAAAAAGAGGAAATATTTCCTCAAAACCCAAAATAGGAAAAAACGGGTCAAGTTCGCCCACGAGCGTGGACACAAAAATCTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGTAGTACAGTGGCGCAATCTCGGCTCACTGCAAGATCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGGTCTTGATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGCGCCTGGCCAAAAATCTTAAACAAAATATGATCAAACTGAACCCATCAGAATTCTCTCTAGAGAAGGCACCAGTAAGAGAGAGTAGGCCTCAAACAGGTATTTGCACATCCGACATTGACAGCAGTCAATTTACAACTAAAATATCCATCAATG | CCAGGGGTTGCTGGGACGGAAGACATCCACACAGGTCACAGGCACTTGTGGGGACCTCCCTGTCCCCAGGGAGACAACGATGGAGAGTTTCTTCACCTTGTTGGCCTGACCCTGTTGGGAACAGGACAGGGGCAGTCAGAAGAGACCTTCCACAGGTAGGGGGCACGAAGGGGAGCGTCAAGGGGAGGCCCAAGACTGGGCTCTGGGGCACATGAGAACAGGGCAAGAGGTCTCTGGTGGCAAGAGCATGCCTGGCATGATTTCCAGCCAGCCTCTTGCACGTGACCCCAGAACGGCTGGTGCGGGCATCACATGCCATCTGCTCAGGACAGCATCTGTGTACCAACAGGACCACACATACACCAGCTGCAAGAAGGATCCCGCCCACCCCATCTGATGCTGGCCCAAGTCAAGTCGTGGCCAGGGGAGGAAAGGCAGACGGTGTTCCTTGGTGTTGGTGATTTGCCAGGTATTTGCATCATTACTTCATTTAATCTCCAGCCAGTCTGTGGAGAGGGCACTGATCACCCAGTTTGCAAATGAGGGCTCTCAGCGAAGCTCAGGCCGGGAAGCAGCTGCAGGGGCCACGTGGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGCTGCCTCTCTTATTTGCTTCCGAACAAGCTCTGCTGCCGATTTGCTGGATGATCTTGGGTGATGCCTCCCACTCTGGGTCCCAGGCTCCCCATCCGCACGCAATAGGAGAGTTAGACTGGCTAGTGTCTGACAGTCTGACGGTCTCTGCCGCCTGCAGGAAGCCCGCCCTGCCCGATCTGGCCCCTAGAGGGCGCTTCTCTGTCTGCCCAGAGCCTCTGCTGCGCTGCCCAGGACGCCCTGGGGCTTCGGGAAACCACAGCAGCAAGGATGCAGCTCAGGCTCCCGGCAGTGCTGTGAACATTTCACAGACAACAGCATGCCAAGGCCTCGCAGCCTCCCCAGGCAGGCGCTATGATGGCCCCATTAGGTAGCTGCAGTGAGTGCAGGCAGAACGGGGACCCCCAGAGGCGCCCTGGCTCCAGGGTCTGAGCTCAGCCACCGCGCTCGCCCACCCCGGTCACCCACCGCCCGCCACGCCACAGGGCCTCCCCTAGCATGCTGGGTCCTGCCAGCCTCTGCTGTACCTCTGCAGAGAGAGGGCTGCTGCTCTTCCTCCAGATCACTGATTCTGCACTGCTCTGTCCCCAAGGGCCTCAGGATGGGTCCCCTGTTCCATGGAGCCCTTTCCGAGCCCCCAGGCCTTTTAGCAGAGGCCTCACGGTCCTCCACCACAGCACCGGCAACCCGTGGGGACAGGCATTCCTGTGGGACTGTCTATCCACAGAGGTGAGCTCAAGGGCAAGCATGTGTCCTGTCCCCAGGCTGGCTCGAGTGGCACGTTCATGGTATGCATGCCGCCCTCCCCACTCATGCACACTTAGAGCACAGTGGTCCTCAGATCCCCCTTAGCACAGTGCTTCAGGCAGATCCCACCCATGGAACAGGTTCCAGTGAGATCAATTTGCCCTGTGTGCACATATGAATGAGTGCGTGTGTAAAAGCCACCTGCTGTCCTGGGGGTCGGTCCCTAGCATGGTTTGCTGACACAGGATTGGCTCCAGGGAGCAGTGGGTCCAGGCCCTCTGGCCTACGGCACTCACCTTGCGGATCAGGTCCTGATTGTACTCATGGATCTCGGTCATGGCATCCAGCGTGGGGTTGTTGGTCAGCAGCCCACCGTCCAGGAAGCGCCCATTGGGTCGGAAGTAAGTAGGAGCTGCCCCGCTGCTTCGGGCCGCCCGCCACACCAGCTGGTCTAGGGGCGGGGAAGGAGGGCGGCCCAGTGGCACAAGGGACTGGCATAAAACCCATGCACTCCAGATCTCAGGGTGTGCGTGTTGGGGGCTGGGGGTGCGGGAAGAGGGGAGGCTGGGAACTCTTCAGAAGCAGGACCCACGAAGCCACACTCTCTGGCTAGTTCGTCCTGGTGGAAGGCAGGTACAGCTGAGGACTTTCCAGGGACTTTTCTAACCTGCCAGGGGCCTGACAGCTCCCCCGCAATCCCTGTCCTCAGCCAATAAAGACCAGTGCAGCGGGTGGGCTGGTGGCACGGTGAGGGTGCCTGATGGCAAGTGCACGACTCCCACCCACCACCCCACAGCCTCTCGGGCCAGTCGCTTCCCATGGATGCATCAAACATGGTTTAAACCTGAGGGCTGAGCTGGAGGCCTGAGGTTAACGTTCTGGTTGAAACGAGGCTCCCGGACAGTTTCTGGAGCATCGTAGTTCCGGAAGAGGTGGAGTTCAGCCGGCTGCCGGTCAGACAGTGTCCCTGTCAGCATCACCCTGGAGAGAAATGAGGCAGGAGGACGGCTGAGCCACCCGCCCATCCACCTTTCCCTTTCCCCACAATTCACACCCCAGGGCCTTGGGTAGCAGAGTGCCCACTCCAACCTCTGTTCGGGATAGGTGGGCTTCTCCCCGCACCATCCCCGCAAAACAGGCTCTCTCCGGCAGTGCTGGAGGAGTGTCAGATTGGTCCAACCTTGGGGGCACAATTCAGCAAAAGTTGGTTTTTTTGAAAGGCTAATCCAATGGAAAAACCTGTTGCAAGACTGATAAAACATGGCTGTTATCTGTTATCAAAATCAGGAAAGAAAAGGGGGCCGCACCAACACACACTGCAGACGTTAGAAAAAGGAGAATCGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCCCGTCTCTACTAATAATACAAAAATTAGGTGTGGTTGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGTCATTGCACTCCAGCCTGGGCGATAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAACAGAATATTTTGAACAACTCTAAGCCAATAAGCTTAAAGATTTAGATGAAATGGACACATTCCTAGAAAAACCTCACTTAACCAAAACTAACTCAAAAAGGTATTTAGAAACCCCGAGTGGTCAGTCTCACAACCACTATAGAAATTAATTCCATCATCAAAAATCCTCCCACCAAGCAAACTCCAGGCCTAGAAGAATTTACTATCAAGTTCTACCATAAATTCAAAATAAACTATTATACTAACTCTTCCAAGAAAAATAAAAAGAGGAAATATTTCCTCAAAACCCAAAATAGGAAAAAACGGGTCAAGTTCGCCCACGAGCGTGGACACAAAAATCTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGTAGTACAGTGGCGCAATCTCGGCTCACTGCAAGATCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGGTCTTGATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGCGCCTGGCCAAAAATCTTAAACAAAATATGATCAAACTGAACCCATCAGAATTCTCTCTAGAGAAGGCACCAGTAAGAGAGAGTAGGCCTCAAACAGGTATTTGCACATCCGACATTGACAGCAGTCAATTTACAACTAAAATATCCATCAATG 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Task1_train_28801 | This gene mutation involves PLA2G6 (phospholipase A2 group VI) on Chromosome 22. Is it associated with any clinical condition, or is it benign? | Pathogenic; Infantile neuroaxonal dystrophy | GGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGCTGCCTCTCTTATTTGCTTCCGAACAAGCTCTGCTGCCGATTTGCTGGATGATCTTGGGTGATGCCTCCCACTCTGGGTCCCAGGCTCCCCATCCGCACGCAATAGGAGAGTTAGACTGGCTAGTGTCTGACAGTCTGACGGTCTCTGCCGCCTGCAGGAAGCCCGCCCTGCCCGATCTGGCCCCTAGAGGGCGCTTCTCTGTCTGCCCAGAGCCTCTGCTGCGCTGCCCAGGACGCCCTGGGGCTTCGGGAAACCACAGCAGCAAGGATGCAGCTCAGGCTCCCGGCAGTGCTGTGAACATTTCACAGACAACAGCATGCCAAGGCCTCGCAGCCTCCCCAGGCAGGCGCTATGATGGCCCCATTAGGTAGCTGCAGTGAGTGCAGGCAGAACGGGGACCCCCAGAGGCGCCCTGGCTCCAGGGTCTGAGCTCAGCCACCGCGCTCGCCCACCCCGGTCACCCACCGCCCGCCACGCCACAGGGCCTCCCCTAGCATGCTGGGTCCTGCCAGCCTCTGCTGTACCTCTGCAGAGAGAGGGCTGCTGCTCTTCCTCCAGATCACTGATTCTGCACTGCTCTGTCCCCAAGGGCCTCAGGATGGGTCCCCTGTTCCATGGAGCCCTTTCCGAGCCCCCAGGCCTTTTAGCAGAGGCCTCACGGTCCTCCACCACAGCACCGGCAACCCGTGGGGACAGGCATTCCTGTGGGACTGTCTATCCACAGAGGTGAGCTCAAGGGCAAGCATGTGTCCTGTCCCCAGGCTGGCTCGAGTGGCACGTTCATGGTATGCATGCCGCCCTCCCCACTCATGCACACTTAGAGCACAGTGGTCCTCAGATCCCCCTTAGCACAGTGCTTCAGGCAGATCCCACCCATGGAACAGGTTCCAGTGAGATCAATTTGCCCTGTGTGCACATATGAATGAGTGCGTGTGTAAAAGCCACCTGCTGTCCTGGGGGTCGGTCCCTAGCATGGTTTGCTGACACAGGATTGGCTCCAGGGAGCAGTGGGTCCAGGCCCTCTGGCCTACGGCACTCACCTTGCGGATCAGGTCCTGATTGTACTCATGGATCTCGGTCATGGCATCCAGCGTGGGGTTGTTGGCCAGCAGCCCACCGTCCAGGAAGCGCCCATTGGGTCGGAAGTAAGTAGGAGCTGCCCCGCTGCTTCGGGCCGCCCGCCACACCAGCTGGTCTAGGGGCGGGGAAGGAGGGCGGCCCAGTGGCACAAGGGACTGGCATAAAACCCATGCACTCCAGATCTCAGGGTGTGCGTGTTGGGGGCTGGGGGTGCGGGAAGAGGGGAGGCTGGGAACTCTTCAGAAGCAGGACCCACGAAGCCACACTCTCTGGCTAGTTCGTCCTGGTGGAAGGCAGGTACAGCTGAGGACTTTCCAGGGACTTTTCTAACCTGCCAGGGGCCTGACAGCTCCCCCGCAATCCCTGTCCTCAGCCAATAAAGACCAGTGCAGCGGGTGGGCTGGTGGCACGGTGAGGGTGCCTGATGGCAAGTGCACGACTCCCACCCACCACCCCACAGCCTCTCGGGCCAGTCGCTTCCCATGGATGCATCAAACATGGTTTAAACCTGAGGGCTGAGCTGGAGGCCTGAGGTTAACGTTCTGGTTGAAACGAGGCTCCCGGACAGTTTCTGGAGCATCGTAGTTCCGGAAGAGGTGGAGTTCAGCCGGCTGCCGGTCAGACAGTGTCCCTGTCAGCATCACCCTGGAGAGAAATGAGGCAGGAGGACGGCTGAGCCACCCGCCCATCCACCTTTCCCTTTCCCCACAATTCACACCCCAGGGCCTTGGGTAGCAGAGTGCCCACTCCAACCTCTGTTCGGGATAGGTGGGCTTCTCCCCGCACCATCCCCGCAAAACAGGCTCTCTCCGGCAGTGCTGGAGGAGTGTCAGATTGGTCCAACCTTGGGGGCACAATTCAGCAAAAGTTGGTTTTTTTGAAAGGCTAATCCAATGGAAAAACCTGTTGCAAGACTGATAAAACATGGCTGTTATCTGTTATCAAAATCAGGAAAGAAAAGGGGGCCGCACCAACACACACTGCAGACGTTAGAAAAAGGAGAATCGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCCCGTCTCTACTAATAATACAAAAATTAGGTGTGGTTGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGTCATTGCACTCCAGCCTGGGCGATAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAACAGAATATTTTGAACAACTCTAAGCCAATAAGCTTAAAGATTTAGATGAAATGGACACATTCCTAGAAAAACCTCACTTAACCAAAACTAACTCAAAAAGGTATTTAGAAACCCCGAGTGGTCAGTCTCACAACCACTATAGAAATTAATTCCATCATCAAAAATCCTCCCACCAAGCAAACTCCAGGCCTAGAAGAATTTACTATCAAGTTCTACCATAAATTCAAAATAAACTATTATACTAACTCTTCCAAGAAAAATAAAAAGAGGAAATATTTCCTCAAAACCCAAAATAGGAAAAAACGGGTCAAGTTCGCCCACGAGCGTGGACACAAAAATCTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGTAGTACAGTGGCGCAATCTCGGCTCACTGCAAGATCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGGTCTTGATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGCGCCTGGCCAAAAATCTTAAACAAAATATGATCAAACTGAACCCATCAGAATTCTCTCTAGAGAAGGCACCAGTAAGAGAGAGTAGGCCTCAAACAGGTATTTGCACATCCGACATTGACAGCAGTCAATTTACAACTAAAATATCCATCAATGGATGAATGGAGAAGCAAAACGTGTATCCAACAGACAATGGAGTTTTTCAGCCTTAAAAAGGAAGGAAATTCTGACACACGCTACAACATGGATGCCAAGTGAAATAAGCCAGTCATGGCCGGGCACGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTTAGGAGTTTGAGACTGGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAATACAAAAAATTAGCCGGGCATGGTGGTGCACGCCTATAATCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAAGCAGAAATTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGATAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAATAAGCCAGTCACAAAAAGACAAATACTGTATGATTCCACTTACATAAGGTACGGTCAAAGATAAAATTGCAACAAATTTAAAGATGTTAATTGGCTTTTATTGATGAACTGAGAGTCAGGCAGGCCACAAAACCAGAATAGGTTCAAAGAACTCTGGCCTGCAACGTGGTC 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GGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGCTGCCTCTCTTATTTGCTTCCGAACAAGCTCTGCTGCCGATTTGCTGGATGATCTTGGGTGATGCCTCCCACTCTGGGTCCCAGGCTCCCCATCCGCACGCAATAGGAGAGTTAGACTGGCTAGTGTCTGACAGTCTGACGGTCTCTGCCGCCTGCAGGAAGCCCGCCCTGCCCGATCTGGCCCCTAGAGGGCGCTTCTCTGTCTGCCCAGAGCCTCTGCTGCGCTGCCCAGGACGCCCTGGGGCTTCGGGAAACCACAGCAGCAAGGATGCAGCTCAGGCTCCCGGCAGTGCTGTGAACATTTCACAGACAACAGCATGCCAAGGCCTCGCAGCCTCCCCAGGCAGGCGCTATGATGGCCCCATTAGGTAGCTGCAGTGAGTGCAGGCAGAACGGGGACCCCCAGAGGCGCCCTGGCTCCAGGGTCTGAGCTCAGCCACCGCGCTCGCCCACCCCGGTCACCCACCGCCCGCCACGCCACAGGGCCTCCCCTAGCATGCTGGGTCCTGCCAGCCTCTGCTGTACCTCTGCAGAGAGAGGGCTGCTGCTCTTCCTCCAGATCACTGATTCTGCACTGCTCTGTCCCCAAGGGCCTCAGGATGGGTCCCCTGTTCCATGGAGCCCTTTCCGAGCCCCCAGGCCTTTTAGCAGAGGCCTCACGGTCCTCCACCACAGCACCGGCAACCCGTGGGGACAGGCATTCCTGTGGGACTGTCTATCCACAGAGGTGAGCTCAAGGGCAAGCATGTGTCCTGTCCCCAGGCTGGCTCGAGTGGCACGTTCATGGTATGCATGCCGCCCTCCCCACTCATGCACACTTAGAGCACAGTGGTCCTCAGATCCCCCTTAGCACAGTGCTTCAGGCAGATCCCACCCATGGAACAGGTTCCAGTGAGATCAATTTGCCCTGTGTGCACATATGAATGAGTGCGTGTGTAAAAGCCACCTGCTGTCCTGGGGGTCGGTCCCTAGCATGGTTTGCTGACACAGGATTGGCTCCAGGGAGCAGTGGGTCCAGGCCCTCTGGCCTACGGCACTCACCTTGCGGATCAGGTCCTGATTGTACTCATGGATCTCGGTCATGGCATCCAGCGTGGGGTTGTTGGCCAGCAGCCCACCGTCCAGGAAGCGCCCATTGGGTCGGAAGTAAGTAGGAGCTGCCCCGCTGCTTCGGGCCGCCCGCCACACCAGCTGGTCTAGGGGCGGGGAAGGAGGGCGGCCCAGTGGCACAAGGGACTGGCATAAAACCCATGCACTCCAGATCTCAGGGTGTGCGTGTTGGGGGCTGGGGGTGCGGGAAGAGGGGAGGCTGGGAACTCTTCAGAAGCAGGACCCACGAAGCCACACTCTCTGGCTAGTTCGTCCTGGTGGAAGGCAGGTACAGCTGAGGACTTTCCAGGGACTTTTCTAACCTGCCAGGGGCCTGACAGCTCCCCCGCAATCCCTGTCCTCAGCCAATAAAGACCAGTGCAGCGGGTGGGCTGGTGGCACGGTGAGGGTGCCTGATGGCAAGTGCACGACTCCCACCCACCACCCCACAGCCTCTCGGGCCAGTCGCTTCCCATGGATGCATCAAACATGGTTTAAACCTGAGGGCTGAGCTGGAGGCCTGAGGTTAACGTTCTGGTTGAAACGAGGCTCCCGGACAGTTTCTGGAGCATCGTAGTTCCGGAAGAGGTGGAGTTCAGCCGGCTGCTGGTCAGACAGTGTCCCTGTCAGCATCACCCTGGAGAGAAATGAGGCAGGAGGACGGCTGAGCCACCCGCCCATCCACCTTTCCCTTTCCCCACAATTCACACCCCAGGGCCTTGGGTAGCAGAGTGCCCACTCCAACCTCTGTTCGGGATAGGTGGGCTTCTCCCCGCACCATCCCCGCAAAACAGGCTCTCTCCGGCAGTGCTGGAGGAGTGTCAGATTGGTCCAACCTTGGGGGCACAATTCAGCAAAAGTTGGTTTTTTTGAAAGGCTAATCCAATGGAAAAACCTGTTGCAAGACTGATAAAACATGGCTGTTATCTGTTATCAAAATCAGGAAAGAAAAGGGGGCCGCACCAACACACACTGCAGACGTTAGAAAAAGGAGAATCGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCCCGTCTCTACTAATAATACAAAAATTAGGTGTGGTTGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGTCATTGCACTCCAGCCTGGGCGATAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAACAGAATATTTTGAACAACTCTAAGCCAATAAGCTTAAAGATTTAGATGAAATGGACACATTCCTAGAAAAACCTCACTTAACCAAAACTAACTCAAAAAGGTATTTAGAAACCCCGAGTGGTCAGTCTCACAACCACTATAGAAATTAATTCCATCATCAAAAATCCTCCCACCAAGCAAACTCCAGGCCTAGAAGAATTTACTATCAAGTTCTACCATAAATTCAAAATAAACTATTATACTAACTCTTCCAAGAAAAATAAAAAGAGGAAATATTTCCTCAAAACCCAAAATAGGAAAAAACGGGTCAAGTTCGCCCACGAGCGTGGACACAAAAATCTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGTAGTACAGTGGCGCAATCTCGGCTCACTGCAAGATCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGGTCTTGATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGCGCCTGGCCAAAAATCTTAAACAAAATATGATCAAACTGAACCCATCAGAATTCTCTCTAGAGAAGGCACCAGTAAGAGAGAGTAGGCCTCAAACAGGTATTTGCACATCCGACATTGACAGCAGTCAATTTACAACTAAAATATCCATCAATGGATGAATGGAGAAGCAAAACGTGTATCCAACAGACAATGGAGTTTTTCAGCCTTAAAAAGGAAGGAAATTCTGACACACGCTACAACATGGATGCCAAGTGAAATAAGCCAGTCATGGCCGGGCACGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTTAGGAGTTTGAGACTGGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAATACAAAAAATTAGCCGGGCATGGTGGTGCACGCCTATAATCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAAGCAGAAATTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGATAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAATAAGCCAGTCACAAAAAGACAAATACTGTATGATTCCACTTACATAAGGTACGGTCAAAGATAAAATTGCAACAAATTTAAAGATGTTAATTGGCTTTTATTGATGAACTGAGAGTCAGGCAGGCCACAAAACCAGAATAGGTTCAAAGAACTCTGGCCTGCAACGTGGTC 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Task1_train_28802 | A genetic alteration is present in PLA2G6 (phospholipase A2 group VI) on Chromosome 22. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Autosomal recessive Parkinson disease 14 | GGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGCTGCCTCTCTTATTTGCTTCCGAACAAGCTCTGCTGCCGATTTGCTGGATGATCTTGGGTGATGCCTCCCACTCTGGGTCCCAGGCTCCCCATCCGCACGCAATAGGAGAGTTAGACTGGCTAGTGTCTGACAGTCTGACGGTCTCTGCCGCCTGCAGGAAGCCCGCCCTGCCCGATCTGGCCCCTAGAGGGCGCTTCTCTGTCTGCCCAGAGCCTCTGCTGCGCTGCCCAGGACGCCCTGGGGCTTCGGGAAACCACAGCAGCAAGGATGCAGCTCAGGCTCCCGGCAGTGCTGTGAACATTTCACAGACAACAGCATGCCAAGGCCTCGCAGCCTCCCCAGGCAGGCGCTATGATGGCCCCATTAGGTAGCTGCAGTGAGTGCAGGCAGAACGGGGACCCCCAGAGGCGCCCTGGCTCCAGGGTCTGAGCTCAGCCACCGCGCTCGCCCACCCCGGTCACCCACCGCCCGCCACGCCACAGGGCCTCCCCTAGCATGCTGGGTCCTGCCAGCCTCTGCTGTACCTCTGCAGAGAGAGGGCTGCTGCTCTTCCTCCAGATCACTGATTCTGCACTGCTCTGTCCCCAAGGGCCTCAGGATGGGTCCCCTGTTCCATGGAGCCCTTTCCGAGCCCCCAGGCCTTTTAGCAGAGGCCTCACGGTCCTCCACCACAGCACCGGCAACCCGTGGGGACAGGCATTCCTGTGGGACTGTCTATCCACAGAGGTGAGCTCAAGGGCAAGCATGTGTCCTGTCCCCAGGCTGGCTCGAGTGGCACGTTCATGGTATGCATGCCGCCCTCCCCACTCATGCACACTTAGAGCACAGTGGTCCTCAGATCCCCCTTAGCACAGTGCTTCAGGCAGATCCCACCCATGGAACAGGTTCCAGTGAGATCAATTTGCCCTGTGTGCACATATGAATGAGTGCGTGTGTAAAAGCCACCTGCTGTCCTGGGGGTCGGTCCCTAGCATGGTTTGCTGACACAGGATTGGCTCCAGGGAGCAGTGGGTCCAGGCCCTCTGGCCTACGGCACTCACCTTGCGGATCAGGTCCTGATTGTACTCATGGATCTCGGTCATGGCATCCAGCGTGGGGTTGTTGGCCAGCAGCCCACCGTCCAGGAAGCGCCCATTGGGTCGGAAGTAAGTAGGAGCTGCCCCGCTGCTTCGGGCCGCCCGCCACACCAGCTGGTCTAGGGGCGGGGAAGGAGGGCGGCCCAGTGGCACAAGGGACTGGCATAAAACCCATGCACTCCAGATCTCAGGGTGTGCGTGTTGGGGGCTGGGGGTGCGGGAAGAGGGGAGGCTGGGAACTCTTCAGAAGCAGGACCCACGAAGCCACACTCTCTGGCTAGTTCGTCCTGGTGGAAGGCAGGTACAGCTGAGGACTTTCCAGGGACTTTTCTAACCTGCCAGGGGCCTGACAGCTCCCCCGCAATCCCTGTCCTCAGCCAATAAAGACCAGTGCAGCGGGTGGGCTGGTGGCACGGTGAGGGTGCCTGATGGCAAGTGCACGACTCCCACCCACCACCCCACAGCCTCTCGGGCCAGTCGCTTCCCATGGATGCATCAAACATGGTTTAAACCTGAGGGCTGAGCTGGAGGCCTGAGGTTAACGTTCTGGTTGAAACGAGGCTCCCGGACAGTTTCTGGAGCATCGTAGTTCCGGAAGAGGTGGAGTTCAGCCGGCTGCCGGTCAGACAGTGTCCCTGTCAGCATCACCCTGGAGAGAAATGAGGCAGGAGGACGGCTGAGCCACCCGCCCATCCACCTTTCCCTTTCCCCACAATTCACACCCCAGGGCCTTGGGTAGCAGAGTGCCCACTCCAACCTCTGTTCGGGATAGGTGGGCTTCTCCCCGCACCATCCCCGCAAAACAGGCTCTCTCCGGCAGTGCTGGAGGAGTGTCAGATTGGTCCAACCTTGGGGGCACAATTCAGCAAAAGTTGGTTTTTTTGAAAGGCTAATCCAATGGAAAAACCTGTTGCAAGACTGATAAAACATGGCTGTTATCTGTTATCAAAATCAGGAAAGAAAAGGGGGCCGCACCAACACACACTGCAGACGTTAGAAAAAGGAGAATCGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCCCGTCTCTACTAATAATACAAAAATTAGGTGTGGTTGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGTCATTGCACTCCAGCCTGGGCGATAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAACAGAATATTTTGAACAACTCTAAGCCAATAAGCTTAAAGATTTAGATGAAATGGACACATTCCTAGAAAAACCTCACTTAACCAAAACTAACTCAAAAAGGTATTTAGAAACCCCGAGTGGTCAGTCTCACAACCACTATAGAAATTAATTCCATCATCAAAAATCCTCCCACCAAGCAAACTCCAGGCCTAGAAGAATTTACTATCAAGTTCTACCATAAATTCAAAATAAACTATTATACTAACTCTTCCAAGAAAAATAAAAAGAGGAAATATTTCCTCAAAACCCAAAATAGGAAAAAACGGGTCAAGTTCGCCCACGAGCGTGGACACAAAAATCTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGTAGTACAGTGGCGCAATCTCGGCTCACTGCAAGATCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGGTCTTGATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGCGCCTGGCCAAAAATCTTAAACAAAATATGATCAAACTGAACCCATCAGAATTCTCTCTAGAGAAGGCACCAGTAAGAGAGAGTAGGCCTCAAACAGGTATTTGCACATCCGACATTGACAGCAGTCAATTTACAACTAAAATATCCATCAATGGATGAATGGAGAAGCAAAACGTGTATCCAACAGACAATGGAGTTTTTCAGCCTTAAAAAGGAAGGAAATTCTGACACACGCTACAACATGGATGCCAAGTGAAATAAGCCAGTCATGGCCGGGCACGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTTAGGAGTTTGAGACTGGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAATACAAAAAATTAGCCGGGCATGGTGGTGCACGCCTATAATCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAAGCAGAAATTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGATAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAATAAGCCAGTCACAAAAAGACAAATACTGTATGATTCCACTTACATAAGGTACGGTCAAAGATAAAATTGCAACAAATTTAAAGATGTTAATTGGCTTTTATTGATGAACTGAGAGTCAGGCAGGCCACAAAACCAGAATAGGTTCAAAGAACTCTGGCCTGCAACGTGGTC 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GGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGCTGCCTCTCTTATTTGCTTCCGAACAAGCTCTGCTGCCGATTTGCTGGATGATCTTGGGTGATGCCTCCCACTCTGGGTCCCAGGCTCCCCATCCGCACGCAATAGGAGAGTTAGACTGGCTAGTGTCTGACAGTCTGACGGTCTCTGCCGCCTGCAGGAAGCCCGCCCTGCCCGATCTGGCCCCTAGAGGGCGCTTCTCTGTCTGCCCAGAGCCTCTGCTGCGCTGCCCAGGACGCCCTGGGGCTTCGGGAAACCACAGCAGCAAGGATGCAGCTCAGGCTCCCGGCAGTGCTGTGAACATTTCACAGACAACAGCATGCCAAGGCCTCGCAGCCTCCCCAGGCAGGCGCTATGATGGCCCCATTAGGTAGCTGCAGTGAGTGCAGGCAGAACGGGGACCCCCAGAGGCGCCCTGGCTCCAGGGTCTGAGCTCAGCCACCGCGCTCGCCCACCCCGGTCACCCACCGCCCGCCACGCCACAGGGCCTCCCCTAGCATGCTGGGTCCTGCCAGCCTCTGCTGTACCTCTGCAGAGAGAGGGCTGCTGCTCTTCCTCCAGATCACTGATTCTGCACTGCTCTGTCCCCAAGGGCCTCAGGATGGGTCCCCTGTTCCATGGAGCCCTTTCCGAGCCCCCAGGCCTTTTAGCAGAGGCCTCACGGTCCTCCACCACAGCACCGGCAACCCGTGGGGACAGGCATTCCTGTGGGACTGTCTATCCACAGAGGTGAGCTCAAGGGCAAGCATGTGTCCTGTCCCCAGGCTGGCTCGAGTGGCACGTTCATGGTATGCATGCCGCCCTCCCCACTCATGCACACTTAGAGCACAGTGGTCCTCAGATCCCCCTTAGCACAGTGCTTCAGGCAGATCCCACCCATGGAACAGGTTCCAGTGAGATCAATTTGCCCTGTGTGCACATATGAATGAGTGCGTGTGTAAAAGCCACCTGCTGTCCTGGGGGTCGGTCCCTAGCATGGTTTGCTGACACAGGATTGGCTCCAGGGAGCAGTGGGTCCAGGCCCTCTGGCCTACGGCACTCACCTTGCGGATCAGGTCCTGATTGTACTCATGGATCTCGGTCATGGCATCCAGCGTGGGGTTGTTGGCCAGCAGCCCACCGTCCAGGAAGCGCCCATTGGGTCGGAAGTAAGTAGGAGCTGCCCCGCTGCTTCGGGCCGCCCGCCACACCAGCTGGTCTAGGGGCGGGGAAGGAGGGCGGCCCAGTGGCACAAGGGACTGGCATAAAACCCATGCACTCCAGATCTCAGGGTGTGCGTGTTGGGGGCTGGGGGTGCGGGAAGAGGGGAGGCTGGGAACTCTTCAGAAGCAGGACCCACGAAGCCACACTCTCTGGCTAGTTCGTCCTGGTGGAAGGCAGGTACAGCTGAGGACTTTCCAGGGACTTTTCTAACCTGCCAGGGGCCTGACAGCTCCCCCGCAATCCCTGTCCTCAGCCAATAAAGACCAGTGCAGCGGGTGGGCTGGTGGCACGGTGAGGGTGCCTGATGGCAAGTGCACGACTCCCACCCACCACCCCACAGCCTCTCGGGCCAGTCGCTTCCCATGGATGCATCAAACATGGTTTAAACCTGAGGGCTGAGCTGGAGGCCTGAGGTTAACGTTCTGGTTGAAACGAGGCTCCCGGACAGTTTCTGGAGCATCGTAGTTCCGGAAGAGGTGGAGTTCAGCCGGCTGCTGGTCAGACAGTGTCCCTGTCAGCATCACCCTGGAGAGAAATGAGGCAGGAGGACGGCTGAGCCACCCGCCCATCCACCTTTCCCTTTCCCCACAATTCACACCCCAGGGCCTTGGGTAGCAGAGTGCCCACTCCAACCTCTGTTCGGGATAGGTGGGCTTCTCCCCGCACCATCCCCGCAAAACAGGCTCTCTCCGGCAGTGCTGGAGGAGTGTCAGATTGGTCCAACCTTGGGGGCACAATTCAGCAAAAGTTGGTTTTTTTGAAAGGCTAATCCAATGGAAAAACCTGTTGCAAGACTGATAAAACATGGCTGTTATCTGTTATCAAAATCAGGAAAGAAAAGGGGGCCGCACCAACACACACTGCAGACGTTAGAAAAAGGAGAATCGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCCCGTCTCTACTAATAATACAAAAATTAGGTGTGGTTGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGTCATTGCACTCCAGCCTGGGCGATAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAACAGAATATTTTGAACAACTCTAAGCCAATAAGCTTAAAGATTTAGATGAAATGGACACATTCCTAGAAAAACCTCACTTAACCAAAACTAACTCAAAAAGGTATTTAGAAACCCCGAGTGGTCAGTCTCACAACCACTATAGAAATTAATTCCATCATCAAAAATCCTCCCACCAAGCAAACTCCAGGCCTAGAAGAATTTACTATCAAGTTCTACCATAAATTCAAAATAAACTATTATACTAACTCTTCCAAGAAAAATAAAAAGAGGAAATATTTCCTCAAAACCCAAAATAGGAAAAAACGGGTCAAGTTCGCCCACGAGCGTGGACACAAAAATCTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGTAGTACAGTGGCGCAATCTCGGCTCACTGCAAGATCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGGTCTTGATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGCGCCTGGCCAAAAATCTTAAACAAAATATGATCAAACTGAACCCATCAGAATTCTCTCTAGAGAAGGCACCAGTAAGAGAGAGTAGGCCTCAAACAGGTATTTGCACATCCGACATTGACAGCAGTCAATTTACAACTAAAATATCCATCAATGGATGAATGGAGAAGCAAAACGTGTATCCAACAGACAATGGAGTTTTTCAGCCTTAAAAAGGAAGGAAATTCTGACACACGCTACAACATGGATGCCAAGTGAAATAAGCCAGTCATGGCCGGGCACGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTTAGGAGTTTGAGACTGGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAATACAAAAAATTAGCCGGGCATGGTGGTGCACGCCTATAATCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAAGCAGAAATTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGATAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAATAAGCCAGTCACAAAAAGACAAATACTGTATGATTCCACTTACATAAGGTACGGTCAAAGATAAAATTGCAACAAATTTAAAGATGTTAATTGGCTTTTATTGATGAACTGAGAGTCAGGCAGGCCACAAAACCAGAATAGGTTCAAAGAACTCTGGCCTGCAACGTGGTC 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Task1_train_28803 | This mutation occurs in PLA2G6 (phospholipase A2 group VI) on Chromosome 22. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Neurodegeneration with brain iron accumulation 2B | GGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGCTGCCTCTCTTATTTGCTTCCGAACAAGCTCTGCTGCCGATTTGCTGGATGATCTTGGGTGATGCCTCCCACTCTGGGTCCCAGGCTCCCCATCCGCACGCAATAGGAGAGTTAGACTGGCTAGTGTCTGACAGTCTGACGGTCTCTGCCGCCTGCAGGAAGCCCGCCCTGCCCGATCTGGCCCCTAGAGGGCGCTTCTCTGTCTGCCCAGAGCCTCTGCTGCGCTGCCCAGGACGCCCTGGGGCTTCGGGAAACCACAGCAGCAAGGATGCAGCTCAGGCTCCCGGCAGTGCTGTGAACATTTCACAGACAACAGCATGCCAAGGCCTCGCAGCCTCCCCAGGCAGGCGCTATGATGGCCCCATTAGGTAGCTGCAGTGAGTGCAGGCAGAACGGGGACCCCCAGAGGCGCCCTGGCTCCAGGGTCTGAGCTCAGCCACCGCGCTCGCCCACCCCGGTCACCCACCGCCCGCCACGCCACAGGGCCTCCCCTAGCATGCTGGGTCCTGCCAGCCTCTGCTGTACCTCTGCAGAGAGAGGGCTGCTGCTCTTCCTCCAGATCACTGATTCTGCACTGCTCTGTCCCCAAGGGCCTCAGGATGGGTCCCCTGTTCCATGGAGCCCTTTCCGAGCCCCCAGGCCTTTTAGCAGAGGCCTCACGGTCCTCCACCACAGCACCGGCAACCCGTGGGGACAGGCATTCCTGTGGGACTGTCTATCCACAGAGGTGAGCTCAAGGGCAAGCATGTGTCCTGTCCCCAGGCTGGCTCGAGTGGCACGTTCATGGTATGCATGCCGCCCTCCCCACTCATGCACACTTAGAGCACAGTGGTCCTCAGATCCCCCTTAGCACAGTGCTTCAGGCAGATCCCACCCATGGAACAGGTTCCAGTGAGATCAATTTGCCCTGTGTGCACATATGAATGAGTGCGTGTGTAAAAGCCACCTGCTGTCCTGGGGGTCGGTCCCTAGCATGGTTTGCTGACACAGGATTGGCTCCAGGGAGCAGTGGGTCCAGGCCCTCTGGCCTACGGCACTCACCTTGCGGATCAGGTCCTGATTGTACTCATGGATCTCGGTCATGGCATCCAGCGTGGGGTTGTTGGCCAGCAGCCCACCGTCCAGGAAGCGCCCATTGGGTCGGAAGTAAGTAGGAGCTGCCCCGCTGCTTCGGGCCGCCCGCCACACCAGCTGGTCTAGGGGCGGGGAAGGAGGGCGGCCCAGTGGCACAAGGGACTGGCATAAAACCCATGCACTCCAGATCTCAGGGTGTGCGTGTTGGGGGCTGGGGGTGCGGGAAGAGGGGAGGCTGGGAACTCTTCAGAAGCAGGACCCACGAAGCCACACTCTCTGGCTAGTTCGTCCTGGTGGAAGGCAGGTACAGCTGAGGACTTTCCAGGGACTTTTCTAACCTGCCAGGGGCCTGACAGCTCCCCCGCAATCCCTGTCCTCAGCCAATAAAGACCAGTGCAGCGGGTGGGCTGGTGGCACGGTGAGGGTGCCTGATGGCAAGTGCACGACTCCCACCCACCACCCCACAGCCTCTCGGGCCAGTCGCTTCCCATGGATGCATCAAACATGGTTTAAACCTGAGGGCTGAGCTGGAGGCCTGAGGTTAACGTTCTGGTTGAAACGAGGCTCCCGGACAGTTTCTGGAGCATCGTAGTTCCGGAAGAGGTGGAGTTCAGCCGGCTGCCGGTCAGACAGTGTCCCTGTCAGCATCACCCTGGAGAGAAATGAGGCAGGAGGACGGCTGAGCCACCCGCCCATCCACCTTTCCCTTTCCCCACAATTCACACCCCAGGGCCTTGGGTAGCAGAGTGCCCACTCCAACCTCTGTTCGGGATAGGTGGGCTTCTCCCCGCACCATCCCCGCAAAACAGGCTCTCTCCGGCAGTGCTGGAGGAGTGTCAGATTGGTCCAACCTTGGGGGCACAATTCAGCAAAAGTTGGTTTTTTTGAAAGGCTAATCCAATGGAAAAACCTGTTGCAAGACTGATAAAACATGGCTGTTATCTGTTATCAAAATCAGGAAAGAAAAGGGGGCCGCACCAACACACACTGCAGACGTTAGAAAAAGGAGAATCGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCCCGTCTCTACTAATAATACAAAAATTAGGTGTGGTTGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGTCATTGCACTCCAGCCTGGGCGATAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAACAGAATATTTTGAACAACTCTAAGCCAATAAGCTTAAAGATTTAGATGAAATGGACACATTCCTAGAAAAACCTCACTTAACCAAAACTAACTCAAAAAGGTATTTAGAAACCCCGAGTGGTCAGTCTCACAACCACTATAGAAATTAATTCCATCATCAAAAATCCTCCCACCAAGCAAACTCCAGGCCTAGAAGAATTTACTATCAAGTTCTACCATAAATTCAAAATAAACTATTATACTAACTCTTCCAAGAAAAATAAAAAGAGGAAATATTTCCTCAAAACCCAAAATAGGAAAAAACGGGTCAAGTTCGCCCACGAGCGTGGACACAAAAATCTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGTAGTACAGTGGCGCAATCTCGGCTCACTGCAAGATCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGGTCTTGATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGCGCCTGGCCAAAAATCTTAAACAAAATATGATCAAACTGAACCCATCAGAATTCTCTCTAGAGAAGGCACCAGTAAGAGAGAGTAGGCCTCAAACAGGTATTTGCACATCCGACATTGACAGCAGTCAATTTACAACTAAAATATCCATCAATGGATGAATGGAGAAGCAAAACGTGTATCCAACAGACAATGGAGTTTTTCAGCCTTAAAAAGGAAGGAAATTCTGACACACGCTACAACATGGATGCCAAGTGAAATAAGCCAGTCATGGCCGGGCACGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTTAGGAGTTTGAGACTGGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAATACAAAAAATTAGCCGGGCATGGTGGTGCACGCCTATAATCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAAGCAGAAATTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGATAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAATAAGCCAGTCACAAAAAGACAAATACTGTATGATTCCACTTACATAAGGTACGGTCAAAGATAAAATTGCAACAAATTTAAAGATGTTAATTGGCTTTTATTGATGAACTGAGAGTCAGGCAGGCCACAAAACCAGAATAGGTTCAAAGAACTCTGGCCTGCAACGTGGTC 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GGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGCTGCCTCTCTTATTTGCTTCCGAACAAGCTCTGCTGCCGATTTGCTGGATGATCTTGGGTGATGCCTCCCACTCTGGGTCCCAGGCTCCCCATCCGCACGCAATAGGAGAGTTAGACTGGCTAGTGTCTGACAGTCTGACGGTCTCTGCCGCCTGCAGGAAGCCCGCCCTGCCCGATCTGGCCCCTAGAGGGCGCTTCTCTGTCTGCCCAGAGCCTCTGCTGCGCTGCCCAGGACGCCCTGGGGCTTCGGGAAACCACAGCAGCAAGGATGCAGCTCAGGCTCCCGGCAGTGCTGTGAACATTTCACAGACAACAGCATGCCAAGGCCTCGCAGCCTCCCCAGGCAGGCGCTATGATGGCCCCATTAGGTAGCTGCAGTGAGTGCAGGCAGAACGGGGACCCCCAGAGGCGCCCTGGCTCCAGGGTCTGAGCTCAGCCACCGCGCTCGCCCACCCCGGTCACCCACCGCCCGCCACGCCACAGGGCCTCCCCTAGCATGCTGGGTCCTGCCAGCCTCTGCTGTACCTCTGCAGAGAGAGGGCTGCTGCTCTTCCTCCAGATCACTGATTCTGCACTGCTCTGTCCCCAAGGGCCTCAGGATGGGTCCCCTGTTCCATGGAGCCCTTTCCGAGCCCCCAGGCCTTTTAGCAGAGGCCTCACGGTCCTCCACCACAGCACCGGCAACCCGTGGGGACAGGCATTCCTGTGGGACTGTCTATCCACAGAGGTGAGCTCAAGGGCAAGCATGTGTCCTGTCCCCAGGCTGGCTCGAGTGGCACGTTCATGGTATGCATGCCGCCCTCCCCACTCATGCACACTTAGAGCACAGTGGTCCTCAGATCCCCCTTAGCACAGTGCTTCAGGCAGATCCCACCCATGGAACAGGTTCCAGTGAGATCAATTTGCCCTGTGTGCACATATGAATGAGTGCGTGTGTAAAAGCCACCTGCTGTCCTGGGGGTCGGTCCCTAGCATGGTTTGCTGACACAGGATTGGCTCCAGGGAGCAGTGGGTCCAGGCCCTCTGGCCTACGGCACTCACCTTGCGGATCAGGTCCTGATTGTACTCATGGATCTCGGTCATGGCATCCAGCGTGGGGTTGTTGGCCAGCAGCCCACCGTCCAGGAAGCGCCCATTGGGTCGGAAGTAAGTAGGAGCTGCCCCGCTGCTTCGGGCCGCCCGCCACACCAGCTGGTCTAGGGGCGGGGAAGGAGGGCGGCCCAGTGGCACAAGGGACTGGCATAAAACCCATGCACTCCAGATCTCAGGGTGTGCGTGTTGGGGGCTGGGGGTGCGGGAAGAGGGGAGGCTGGGAACTCTTCAGAAGCAGGACCCACGAAGCCACACTCTCTGGCTAGTTCGTCCTGGTGGAAGGCAGGTACAGCTGAGGACTTTCCAGGGACTTTTCTAACCTGCCAGGGGCCTGACAGCTCCCCCGCAATCCCTGTCCTCAGCCAATAAAGACCAGTGCAGCGGGTGGGCTGGTGGCACGGTGAGGGTGCCTGATGGCAAGTGCACGACTCCCACCCACCACCCCACAGCCTCTCGGGCCAGTCGCTTCCCATGGATGCATCAAACATGGTTTAAACCTGAGGGCTGAGCTGGAGGCCTGAGGTTAACGTTCTGGTTGAAACGAGGCTCCCGGACAGTTTCTGGAGCATCGTAGTTCCGGAAGAGGTGGAGTTCAGCCGGCTGCTGGTCAGACAGTGTCCCTGTCAGCATCACCCTGGAGAGAAATGAGGCAGGAGGACGGCTGAGCCACCCGCCCATCCACCTTTCCCTTTCCCCACAATTCACACCCCAGGGCCTTGGGTAGCAGAGTGCCCACTCCAACCTCTGTTCGGGATAGGTGGGCTTCTCCCCGCACCATCCCCGCAAAACAGGCTCTCTCCGGCAGTGCTGGAGGAGTGTCAGATTGGTCCAACCTTGGGGGCACAATTCAGCAAAAGTTGGTTTTTTTGAAAGGCTAATCCAATGGAAAAACCTGTTGCAAGACTGATAAAACATGGCTGTTATCTGTTATCAAAATCAGGAAAGAAAAGGGGGCCGCACCAACACACACTGCAGACGTTAGAAAAAGGAGAATCGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCCCGTCTCTACTAATAATACAAAAATTAGGTGTGGTTGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGTCATTGCACTCCAGCCTGGGCGATAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAACAGAATATTTTGAACAACTCTAAGCCAATAAGCTTAAAGATTTAGATGAAATGGACACATTCCTAGAAAAACCTCACTTAACCAAAACTAACTCAAAAAGGTATTTAGAAACCCCGAGTGGTCAGTCTCACAACCACTATAGAAATTAATTCCATCATCAAAAATCCTCCCACCAAGCAAACTCCAGGCCTAGAAGAATTTACTATCAAGTTCTACCATAAATTCAAAATAAACTATTATACTAACTCTTCCAAGAAAAATAAAAAGAGGAAATATTTCCTCAAAACCCAAAATAGGAAAAAACGGGTCAAGTTCGCCCACGAGCGTGGACACAAAAATCTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGTAGTACAGTGGCGCAATCTCGGCTCACTGCAAGATCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGGTCTTGATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGCGCCTGGCCAAAAATCTTAAACAAAATATGATCAAACTGAACCCATCAGAATTCTCTCTAGAGAAGGCACCAGTAAGAGAGAGTAGGCCTCAAACAGGTATTTGCACATCCGACATTGACAGCAGTCAATTTACAACTAAAATATCCATCAATGGATGAATGGAGAAGCAAAACGTGTATCCAACAGACAATGGAGTTTTTCAGCCTTAAAAAGGAAGGAAATTCTGACACACGCTACAACATGGATGCCAAGTGAAATAAGCCAGTCATGGCCGGGCACGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTTAGGAGTTTGAGACTGGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAATACAAAAAATTAGCCGGGCATGGTGGTGCACGCCTATAATCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAAGCAGAAATTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGATAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAATAAGCCAGTCACAAAAAGACAAATACTGTATGATTCCACTTACATAAGGTACGGTCAAAGATAAAATTGCAACAAATTTAAAGATGTTAATTGGCTTTTATTGATGAACTGAGAGTCAGGCAGGCCACAAAACCAGAATAGGTTCAAAGAACTCTGGCCTGCAACGTGGTC 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Task1_train_28804 | With a mutation on Chromosome 22 in gene PLA2G6 (phospholipase A2 group VI), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Infantile neuroaxonal dystrophy | GGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGCTGCCTCTCTTATTTGCTTCCGAACAAGCTCTGCTGCCGATTTGCTGGATGATCTTGGGTGATGCCTCCCACTCTGGGTCCCAGGCTCCCCATCCGCACGCAATAGGAGAGTTAGACTGGCTAGTGTCTGACAGTCTGACGGTCTCTGCCGCCTGCAGGAAGCCCGCCCTGCCCGATCTGGCCCCTAGAGGGCGCTTCTCTGTCTGCCCAGAGCCTCTGCTGCGCTGCCCAGGACGCCCTGGGGCTTCGGGAAACCACAGCAGCAAGGATGCAGCTCAGGCTCCCGGCAGTGCTGTGAACATTTCACAGACAACAGCATGCCAAGGCCTCGCAGCCTCCCCAGGCAGGCGCTATGATGGCCCCATTAGGTAGCTGCAGTGAGTGCAGGCAGAACGGGGACCCCCAGAGGCGCCCTGGCTCCAGGGTCTGAGCTCAGCCACCGCGCTCGCCCACCCCGGTCACCCACCGCCCGCCACGCCACAGGGCCTCCCCTAGCATGCTGGGTCCTGCCAGCCTCTGCTGTACCTCTGCAGAGAGAGGGCTGCTGCTCTTCCTCCAGATCACTGATTCTGCACTGCTCTGTCCCCAAGGGCCTCAGGATGGGTCCCCTGTTCCATGGAGCCCTTTCCGAGCCCCCAGGCCTTTTAGCAGAGGCCTCACGGTCCTCCACCACAGCACCGGCAACCCGTGGGGACAGGCATTCCTGTGGGACTGTCTATCCACAGAGGTGAGCTCAAGGGCAAGCATGTGTCCTGTCCCCAGGCTGGCTCGAGTGGCACGTTCATGGTATGCATGCCGCCCTCCCCACTCATGCACACTTAGAGCACAGTGGTCCTCAGATCCCCCTTAGCACAGTGCTTCAGGCAGATCCCACCCATGGAACAGGTTCCAGTGAGATCAATTTGCCCTGTGTGCACATATGAATGAGTGCGTGTGTAAAAGCCACCTGCTGTCCTGGGGGTCGGTCCCTAGCATGGTTTGCTGACACAGGATTGGCTCCAGGGAGCAGTGGGTCCAGGCCCTCTGGCCTACGGCACTCACCTTGCGGATCAGGTCCTGATTGTACTCATGGATCTCGGTCATGGCATCCAGCGTGGGGTTGTTGGCCAGCAGCCCACCGTCCAGGAAGCGCCCATTGGGTCGGAAGTAAGTAGGAGCTGCCCCGCTGCTTCGGGCCGCCCGCCACACCAGCTGGTCTAGGGGCGGGGAAGGAGGGCGGCCCAGTGGCACAAGGGACTGGCATAAAACCCATGCACTCCAGATCTCAGGGTGTGCGTGTTGGGGGCTGGGGGTGCGGGAAGAGGGGAGGCTGGGAACTCTTCAGAAGCAGGACCCACGAAGCCACACTCTCTGGCTAGTTCGTCCTGGTGGAAGGCAGGTACAGCTGAGGACTTTCCAGGGACTTTTCTAACCTGCCAGGGGCCTGACAGCTCCCCCGCAATCCCTGTCCTCAGCCAATAAAGACCAGTGCAGCGGGTGGGCTGGTGGCACGGTGAGGGTGCCTGATGGCAAGTGCACGACTCCCACCCACCACCCCACAGCCTCTCGGGCCAGTCGCTTCCCATGGATGCATCAAACATGGTTTAAACCTGAGGGCTGAGCTGGAGGCCTGAGGTTAACGTTCTGGTTGAAACGAGGCTCCCGGACAGTTTCTGGAGCATCGTAGTTCCGGAAGAGGTGGAGTTCAGCCGGCTGCCGGTCAGACAGTGTCCCTGTCAGCATCACCCTGGAGAGAAATGAGGCAGGAGGACGGCTGAGCCACCCGCCCATCCACCTTTCCCTTTCCCCACAATTCACACCCCAGGGCCTTGGGTAGCAGAGTGCCCACTCCAACCTCTGTTCGGGATAGGTGGGCTTCTCCCCGCACCATCCCCGCAAAACAGGCTCTCTCCGGCAGTGCTGGAGGAGTGTCAGATTGGTCCAACCTTGGGGGCACAATTCAGCAAAAGTTGGTTTTTTTGAAAGGCTAATCCAATGGAAAAACCTGTTGCAAGACTGATAAAACATGGCTGTTATCTGTTATCAAAATCAGGAAAGAAAAGGGGGCCGCACCAACACACACTGCAGACGTTAGAAAAAGGAGAATCGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCCCGTCTCTACTAATAATACAAAAATTAGGTGTGGTTGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGTCATTGCACTCCAGCCTGGGCGATAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAACAGAATATTTTGAACAACTCTAAGCCAATAAGCTTAAAGATTTAGATGAAATGGACACATTCCTAGAAAAACCTCACTTAACCAAAACTAACTCAAAAAGGTATTTAGAAACCCCGAGTGGTCAGTCTCACAACCACTATAGAAATTAATTCCATCATCAAAAATCCTCCCACCAAGCAAACTCCAGGCCTAGAAGAATTTACTATCAAGTTCTACCATAAATTCAAAATAAACTATTATACTAACTCTTCCAAGAAAAATAAAAAGAGGAAATATTTCCTCAAAACCCAAAATAGGAAAAAACGGGTCAAGTTCGCCCACGAGCGTGGACACAAAAATCTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGTAGTACAGTGGCGCAATCTCGGCTCACTGCAAGATCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGGTCTTGATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGCGCCTGGCCAAAAATCTTAAACAAAATATGATCAAACTGAACCCATCAGAATTCTCTCTAGAGAAGGCACCAGTAAGAGAGAGTAGGCCTCAAACAGGTATTTGCACATCCGACATTGACAGCAGTCAATTTACAACTAAAATATCCATCAATGGATGAATGGAGAAGCAAAACGTGTATCCAACAGACAATGGAGTTTTTCAGCCTTAAAAAGGAAGGAAATTCTGACACACGCTACAACATGGATGCCAAGTGAAATAAGCCAGTCATGGCCGGGCACGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTTAGGAGTTTGAGACTGGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAATACAAAAAATTAGCCGGGCATGGTGGTGCACGCCTATAATCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAAGCAGAAATTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGATAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAATAAGCCAGTCACAAAAAGACAAATACTGTATGATTCCACTTACATAAGGTACGGTCAAAGATAAAATTGCAACAAATTTAAAGATGTTAATTGGCTTTTATTGATGAACTGAGAGTCAGGCAGGCCACAAAACCAGAATAGGTTCAAAGAACTCTGGCCTGCAACGTGGTC 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GGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGCTGCCTCTCTTATTTGCTTCCGAACAAGCTCTGCTGCCGATTTGCTGGATGATCTTGGGTGATGCCTCCCACTCTGGGTCCCAGGCTCCCCATCCGCACGCAATAGGAGAGTTAGACTGGCTAGTGTCTGACAGTCTGACGGTCTCTGCCGCCTGCAGGAAGCCCGCCCTGCCCGATCTGGCCCCTAGAGGGCGCTTCTCTGTCTGCCCAGAGCCTCTGCTGCGCTGCCCAGGACGCCCTGGGGCTTCGGGAAACCACAGCAGCAAGGATGCAGCTCAGGCTCCCGGCAGTGCTGTGAACATTTCACAGACAACAGCATGCCAAGGCCTCGCAGCCTCCCCAGGCAGGCGCTATGATGGCCCCATTAGGTAGCTGCAGTGAGTGCAGGCAGAACGGGGACCCCCAGAGGCGCCCTGGCTCCAGGGTCTGAGCTCAGCCACCGCGCTCGCCCACCCCGGTCACCCACCGCCCGCCACGCCACAGGGCCTCCCCTAGCATGCTGGGTCCTGCCAGCCTCTGCTGTACCTCTGCAGAGAGAGGGCTGCTGCTCTTCCTCCAGATCACTGATTCTGCACTGCTCTGTCCCCAAGGGCCTCAGGATGGGTCCCCTGTTCCATGGAGCCCTTTCCGAGCCCCCAGGCCTTTTAGCAGAGGCCTCACGGTCCTCCACCACAGCACCGGCAACCCGTGGGGACAGGCATTCCTGTGGGACTGTCTATCCACAGAGGTGAGCTCAAGGGCAAGCATGTGTCCTGTCCCCAGGCTGGCTCGAGTGGCACGTTCATGGTATGCATGCCGCCCTCCCCACTCATGCACACTTAGAGCACAGTGGTCCTCAGATCCCCCTTAGCACAGTGCTTCAGGCAGATCCCACCCATGGAACAGGTTCCAGTGAGATCAATTTGCCCTGTGTGCACATATGAATGAGTGCGTGTGTAAAAGCCACCTGCTGTCCTGGGGGTCGGTCCCTAGCATGGTTTGCTGACACAGGATTGGCTCCAGGGAGCAGTGGGTCCAGGCCCTCTGGCCTACGGCACTCACCTTGCGGATCAGGTCCTGATTGTACTCATGGATCTCGGTCATGGCATCCAGCGTGGGGTTGTTGGCCAGCAGCCCACCGTCCAGGAAGCGCCCATTGGGTCGGAAGTAAGTAGGAGCTGCCCCGCTGCTTCGGGCCGCCCGCCACACCAGCTGGTCTAGGGGCGGGGAAGGAGGGCGGCCCAGTGGCACAAGGGACTGGCATAAAACCCATGCACTCCAGATCTCAGGGTGTGCGTGTTGGGGGCTGGGGGTGCGGGAAGAGGGGAGGCTGGGAACTCTTCAGAAGCAGGACCCACGAAGCCACACTCTCTGGCTAGTTCGTCCTGGTGGAAGGCAGGTACAGCTGAGGACTTTCCAGGGACTTTTCTAACCTGCCAGGGGCCTGACAGCTCCCCCGCAATCCCTGTCCTCAGCCAATAAAGACCAGTGCAGCGGGTGGGCTGGTGGCACGGTGAGGGTGCCTGATGGCAAGTGCACGACTCCCACCCACCACCCCACAGCCTCTCGGGCCAGTCGCTTCCCATGGATGCATCAAACATGGTTTAAACCTGAGGGCTGAGCTGGAGGCCTGAGGTTAACGTTCTGGTTGAAACGAGGCTCCCGGACAGTTTCTGGAGCATCGTAGTTCCGGAAGAGGTGGAGTTCAGCCGGCTGCTGGTCAGACAGTGTCCCTGTCAGCATCACCCTGGAGAGAAATGAGGCAGGAGGACGGCTGAGCCACCCGCCCATCCACCTTTCCCTTTCCCCACAATTCACACCCCAGGGCCTTGGGTAGCAGAGTGCCCACTCCAACCTCTGTTCGGGATAGGTGGGCTTCTCCCCGCACCATCCCCGCAAAACAGGCTCTCTCCGGCAGTGCTGGAGGAGTGTCAGATTGGTCCAACCTTGGGGGCACAATTCAGCAAAAGTTGGTTTTTTTGAAAGGCTAATCCAATGGAAAAACCTGTTGCAAGACTGATAAAACATGGCTGTTATCTGTTATCAAAATCAGGAAAGAAAAGGGGGCCGCACCAACACACACTGCAGACGTTAGAAAAAGGAGAATCGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCCCGTCTCTACTAATAATACAAAAATTAGGTGTGGTTGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGTCATTGCACTCCAGCCTGGGCGATAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAACAGAATATTTTGAACAACTCTAAGCCAATAAGCTTAAAGATTTAGATGAAATGGACACATTCCTAGAAAAACCTCACTTAACCAAAACTAACTCAAAAAGGTATTTAGAAACCCCGAGTGGTCAGTCTCACAACCACTATAGAAATTAATTCCATCATCAAAAATCCTCCCACCAAGCAAACTCCAGGCCTAGAAGAATTTACTATCAAGTTCTACCATAAATTCAAAATAAACTATTATACTAACTCTTCCAAGAAAAATAAAAAGAGGAAATATTTCCTCAAAACCCAAAATAGGAAAAAACGGGTCAAGTTCGCCCACGAGCGTGGACACAAAAATCTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGTAGTACAGTGGCGCAATCTCGGCTCACTGCAAGATCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGGTCTTGATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGCGCCTGGCCAAAAATCTTAAACAAAATATGATCAAACTGAACCCATCAGAATTCTCTCTAGAGAAGGCACCAGTAAGAGAGAGTAGGCCTCAAACAGGTATTTGCACATCCGACATTGACAGCAGTCAATTTACAACTAAAATATCCATCAATGGATGAATGGAGAAGCAAAACGTGTATCCAACAGACAATGGAGTTTTTCAGCCTTAAAAAGGAAGGAAATTCTGACACACGCTACAACATGGATGCCAAGTGAAATAAGCCAGTCATGGCCGGGCACGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTTAGGAGTTTGAGACTGGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAATACAAAAAATTAGCCGGGCATGGTGGTGCACGCCTATAATCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAAGCAGAAATTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGATAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAATAAGCCAGTCACAAAAAGACAAATACTGTATGATTCCACTTACATAAGGTACGGTCAAAGATAAAATTGCAACAAATTTAAAGATGTTAATTGGCTTTTATTGATGAACTGAGAGTCAGGCAGGCCACAAAACCAGAATAGGTTCAAAGAACTCTGGCCTGCAACGTGGTC 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Task1_train_28805 | Chromosome 22 houses a mutation in gene PLA2G6 (phospholipase A2 group VI). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Neurodegeneration with brain iron accumulation | GGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGCTGCCTCTCTTATTTGCTTCCGAACAAGCTCTGCTGCCGATTTGCTGGATGATCTTGGGTGATGCCTCCCACTCTGGGTCCCAGGCTCCCCATCCGCACGCAATAGGAGAGTTAGACTGGCTAGTGTCTGACAGTCTGACGGTCTCTGCCGCCTGCAGGAAGCCCGCCCTGCCCGATCTGGCCCCTAGAGGGCGCTTCTCTGTCTGCCCAGAGCCTCTGCTGCGCTGCCCAGGACGCCCTGGGGCTTCGGGAAACCACAGCAGCAAGGATGCAGCTCAGGCTCCCGGCAGTGCTGTGAACATTTCACAGACAACAGCATGCCAAGGCCTCGCAGCCTCCCCAGGCAGGCGCTATGATGGCCCCATTAGGTAGCTGCAGTGAGTGCAGGCAGAACGGGGACCCCCAGAGGCGCCCTGGCTCCAGGGTCTGAGCTCAGCCACCGCGCTCGCCCACCCCGGTCACCCACCGCCCGCCACGCCACAGGGCCTCCCCTAGCATGCTGGGTCCTGCCAGCCTCTGCTGTACCTCTGCAGAGAGAGGGCTGCTGCTCTTCCTCCAGATCACTGATTCTGCACTGCTCTGTCCCCAAGGGCCTCAGGATGGGTCCCCTGTTCCATGGAGCCCTTTCCGAGCCCCCAGGCCTTTTAGCAGAGGCCTCACGGTCCTCCACCACAGCACCGGCAACCCGTGGGGACAGGCATTCCTGTGGGACTGTCTATCCACAGAGGTGAGCTCAAGGGCAAGCATGTGTCCTGTCCCCAGGCTGGCTCGAGTGGCACGTTCATGGTATGCATGCCGCCCTCCCCACTCATGCACACTTAGAGCACAGTGGTCCTCAGATCCCCCTTAGCACAGTGCTTCAGGCAGATCCCACCCATGGAACAGGTTCCAGTGAGATCAATTTGCCCTGTGTGCACATATGAATGAGTGCGTGTGTAAAAGCCACCTGCTGTCCTGGGGGTCGGTCCCTAGCATGGTTTGCTGACACAGGATTGGCTCCAGGGAGCAGTGGGTCCAGGCCCTCTGGCCTACGGCACTCACCTTGCGGATCAGGTCCTGATTGTACTCATGGATCTCGGTCATGGCATCCAGCGTGGGGTTGTTGGCCAGCAGCCCACCGTCCAGGAAGCGCCCATTGGGTCGGAAGTAAGTAGGAGCTGCCCCGCTGCTTCGGGCCGCCCGCCACACCAGCTGGTCTAGGGGCGGGGAAGGAGGGCGGCCCAGTGGCACAAGGGACTGGCATAAAACCCATGCACTCCAGATCTCAGGGTGTGCGTGTTGGGGGCTGGGGGTGCGGGAAGAGGGGAGGCTGGGAACTCTTCAGAAGCAGGACCCACGAAGCCACACTCTCTGGCTAGTTCGTCCTGGTGGAAGGCAGGTACAGCTGAGGACTTTCCAGGGACTTTTCTAACCTGCCAGGGGCCTGACAGCTCCCCCGCAATCCCTGTCCTCAGCCAATAAAGACCAGTGCAGCGGGTGGGCTGGTGGCACGGTGAGGGTGCCTGATGGCAAGTGCACGACTCCCACCCACCACCCCACAGCCTCTCGGGCCAGTCGCTTCCCATGGATGCATCAAACATGGTTTAAACCTGAGGGCTGAGCTGGAGGCCTGAGGTTAACGTTCTGGTTGAAACGAGGCTCCCGGACAGTTTCTGGAGCATCGTAGTTCCGGAAGAGGTGGAGTTCAGCCGGCTGCCGGTCAGACAGTGTCCCTGTCAGCATCACCCTGGAGAGAAATGAGGCAGGAGGACGGCTGAGCCACCCGCCCATCCACCTTTCCCTTTCCCCACAATTCACACCCCAGGGCCTTGGGTAGCAGAGTGCCCACTCCAACCTCTGTTCGGGATAGGTGGGCTTCTCCCCGCACCATCCCCGCAAAACAGGCTCTCTCCGGCAGTGCTGGAGGAGTGTCAGATTGGTCCAACCTTGGGGGCACAATTCAGCAAAAGTTGGTTTTTTTGAAAGGCTAATCCAATGGAAAAACCTGTTGCAAGACTGATAAAACATGGCTGTTATCTGTTATCAAAATCAGGAAAGAAAAGGGGGCCGCACCAACACACACTGCAGACGTTAGAAAAAGGAGAATCGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCCCGTCTCTACTAATAATACAAAAATTAGGTGTGGTTGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGTCATTGCACTCCAGCCTGGGCGATAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAACAGAATATTTTGAACAACTCTAAGCCAATAAGCTTAAAGATTTAGATGAAATGGACACATTCCTAGAAAAACCTCACTTAACCAAAACTAACTCAAAAAGGTATTTAGAAACCCCGAGTGGTCAGTCTCACAACCACTATAGAAATTAATTCCATCATCAAAAATCCTCCCACCAAGCAAACTCCAGGCCTAGAAGAATTTACTATCAAGTTCTACCATAAATTCAAAATAAACTATTATACTAACTCTTCCAAGAAAAATAAAAAGAGGAAATATTTCCTCAAAACCCAAAATAGGAAAAAACGGGTCAAGTTCGCCCACGAGCGTGGACACAAAAATCTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGTAGTACAGTGGCGCAATCTCGGCTCACTGCAAGATCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGGTCTTGATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGCGCCTGGCCAAAAATCTTAAACAAAATATGATCAAACTGAACCCATCAGAATTCTCTCTAGAGAAGGCACCAGTAAGAGAGAGTAGGCCTCAAACAGGTATTTGCACATCCGACATTGACAGCAGTCAATTTACAACTAAAATATCCATCAATGGATGAATGGAGAAGCAAAACGTGTATCCAACAGACAATGGAGTTTTTCAGCCTTAAAAAGGAAGGAAATTCTGACACACGCTACAACATGGATGCCAAGTGAAATAAGCCAGTCATGGCCGGGCACGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTTAGGAGTTTGAGACTGGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAATACAAAAAATTAGCCGGGCATGGTGGTGCACGCCTATAATCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAAGCAGAAATTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGATAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAATAAGCCAGTCACAAAAAGACAAATACTGTATGATTCCACTTACATAAGGTACGGTCAAAGATAAAATTGCAACAAATTTAAAGATGTTAATTGGCTTTTATTGATGAACTGAGAGTCAGGCAGGCCACAAAACCAGAATAGGTTCAAAGAACTCTGGCCTGCAACGTGGTC 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GGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGCTGCCTCTCTTATTTGCTTCCGAACAAGCTCTGCTGCCGATTTGCTGGATGATCTTGGGTGATGCCTCCCACTCTGGGTCCCAGGCTCCCCATCCGCACGCAATAGGAGAGTTAGACTGGCTAGTGTCTGACAGTCTGACGGTCTCTGCCGCCTGCAGGAAGCCCGCCCTGCCCGATCTGGCCCCTAGAGGGCGCTTCTCTGTCTGCCCAGAGCCTCTGCTGCGCTGCCCAGGACGCCCTGGGGCTTCGGGAAACCACAGCAGCAAGGATGCAGCTCAGGCTCCCGGCAGTGCTGTGAACATTTCACAGACAACAGCATGCCAAGGCCTCGCAGCCTCCCCAGGCAGGCGCTATGATGGCCCCATTAGGTAGCTGCAGTGAGTGCAGGCAGAACGGGGACCCCCAGAGGCGCCCTGGCTCCAGGGTCTGAGCTCAGCCACCGCGCTCGCCCACCCCGGTCACCCACCGCCCGCCACGCCACAGGGCCTCCCCTAGCATGCTGGGTCCTGCCAGCCTCTGCTGTACCTCTGCAGAGAGAGGGCTGCTGCTCTTCCTCCAGATCACTGATTCTGCACTGCTCTGTCCCCAAGGGCCTCAGGATGGGTCCCCTGTTCCATGGAGCCCTTTCCGAGCCCCCAGGCCTTTTAGCAGAGGCCTCACGGTCCTCCACCACAGCACCGGCAACCCGTGGGGACAGGCATTCCTGTGGGACTGTCTATCCACAGAGGTGAGCTCAAGGGCAAGCATGTGTCCTGTCCCCAGGCTGGCTCGAGTGGCACGTTCATGGTATGCATGCCGCCCTCCCCACTCATGCACACTTAGAGCACAGTGGTCCTCAGATCCCCCTTAGCACAGTGCTTCAGGCAGATCCCACCCATGGAACAGGTTCCAGTGAGATCAATTTGCCCTGTGTGCACATATGAATGAGTGCGTGTGTAAAAGCCACCTGCTGTCCTGGGGGTCGGTCCCTAGCATGGTTTGCTGACACAGGATTGGCTCCAGGGAGCAGTGGGTCCAGGCCCTCTGGCCTACGGCACTCACCTTGCGGATCAGGTCCTGATTGTACTCATGGATCTCGGTCATGGCATCCAGCGTGGGGTTGTTGGCCAGCAGCCCACCGTCCAGGAAGCGCCCATTGGGTCGGAAGTAAGTAGGAGCTGCCCCGCTGCTTCGGGCCGCCCGCCACACCAGCTGGTCTAGGGGCGGGGAAGGAGGGCGGCCCAGTGGCACAAGGGACTGGCATAAAACCCATGCACTCCAGATCTCAGGGTGTGCGTGTTGGGGGCTGGGGGTGCGGGAAGAGGGGAGGCTGGGAACTCTTCAGAAGCAGGACCCACGAAGCCACACTCTCTGGCTAGTTCGTCCTGGTGGAAGGCAGGTACAGCTGAGGACTTTCCAGGGACTTTTCTAACCTGCCAGGGGCCTGACAGCTCCCCCGCAATCCCTGTCCTCAGCCAATAAAGACCAGTGCAGCGGGTGGGCTGGTGGCACGGTGAGGGTGCCTGATGGCAAGTGCACGACTCCCACCCACCACCCCACAGCCTCTCGGGCCAGTCGCTTCCCATGGATGCATCAAACATGGTTTAAACCTGAGGGCTGAGCTGGAGGCCTGAGGTTAACGTTCTGGTTGAAACGAGGCTCCCGGACAGTTTCTGGAGCATCGTAGTTCCGGAAGAGGTGGAGTTCAGCCGGCTGCTGGTCAGACAGTGTCCCTGTCAGCATCACCCTGGAGAGAAATGAGGCAGGAGGACGGCTGAGCCACCCGCCCATCCACCTTTCCCTTTCCCCACAATTCACACCCCAGGGCCTTGGGTAGCAGAGTGCCCACTCCAACCTCTGTTCGGGATAGGTGGGCTTCTCCCCGCACCATCCCCGCAAAACAGGCTCTCTCCGGCAGTGCTGGAGGAGTGTCAGATTGGTCCAACCTTGGGGGCACAATTCAGCAAAAGTTGGTTTTTTTGAAAGGCTAATCCAATGGAAAAACCTGTTGCAAGACTGATAAAACATGGCTGTTATCTGTTATCAAAATCAGGAAAGAAAAGGGGGCCGCACCAACACACACTGCAGACGTTAGAAAAAGGAGAATCGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCCCGTCTCTACTAATAATACAAAAATTAGGTGTGGTTGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGTCATTGCACTCCAGCCTGGGCGATAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAACAGAATATTTTGAACAACTCTAAGCCAATAAGCTTAAAGATTTAGATGAAATGGACACATTCCTAGAAAAACCTCACTTAACCAAAACTAACTCAAAAAGGTATTTAGAAACCCCGAGTGGTCAGTCTCACAACCACTATAGAAATTAATTCCATCATCAAAAATCCTCCCACCAAGCAAACTCCAGGCCTAGAAGAATTTACTATCAAGTTCTACCATAAATTCAAAATAAACTATTATACTAACTCTTCCAAGAAAAATAAAAAGAGGAAATATTTCCTCAAAACCCAAAATAGGAAAAAACGGGTCAAGTTCGCCCACGAGCGTGGACACAAAAATCTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGTAGTACAGTGGCGCAATCTCGGCTCACTGCAAGATCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGGTCTTGATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGCGCCTGGCCAAAAATCTTAAACAAAATATGATCAAACTGAACCCATCAGAATTCTCTCTAGAGAAGGCACCAGTAAGAGAGAGTAGGCCTCAAACAGGTATTTGCACATCCGACATTGACAGCAGTCAATTTACAACTAAAATATCCATCAATGGATGAATGGAGAAGCAAAACGTGTATCCAACAGACAATGGAGTTTTTCAGCCTTAAAAAGGAAGGAAATTCTGACACACGCTACAACATGGATGCCAAGTGAAATAAGCCAGTCATGGCCGGGCACGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTTAGGAGTTTGAGACTGGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAATACAAAAAATTAGCCGGGCATGGTGGTGCACGCCTATAATCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAAGCAGAAATTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGATAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAATAAGCCAGTCACAAAAAGACAAATACTGTATGATTCCACTTACATAAGGTACGGTCAAAGATAAAATTGCAACAAATTTAAAGATGTTAATTGGCTTTTATTGATGAACTGAGAGTCAGGCAGGCCACAAAACCAGAATAGGTTCAAAGAACTCTGGCCTGCAACGTGGTC 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Task1_train_28806 | Here is a genetic alteration in PLA2G6 (phospholipase A2 group VI) on Chromosome 22. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not specified | AAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGCTGCCTCTCTTATTTGCTTCCGAACAAGCTCTGCTGCCGATTTGCTGGATGATCTTGGGTGATGCCTCCCACTCTGGGTCCCAGGCTCCCCATCCGCACGCAATAGGAGAGTTAGACTGGCTAGTGTCTGACAGTCTGACGGTCTCTGCCGCCTGCAGGAAGCCCGCCCTGCCCGATCTGGCCCCTAGAGGGCGCTTCTCTGTCTGCCCAGAGCCTCTGCTGCGCTGCCCAGGACGCCCTGGGGCTTCGGGAAACCACAGCAGCAAGGATGCAGCTCAGGCTCCCGGCAGTGCTGTGAACATTTCACAGACAACAGCATGCCAAGGCCTCGCAGCCTCCCCAGGCAGGCGCTATGATGGCCCCATTAGGTAGCTGCAGTGAGTGCAGGCAGAACGGGGACCCCCAGAGGCGCCCTGGCTCCAGGGTCTGAGCTCAGCCACCGCGCTCGCCCACCCCGGTCACCCACCGCCCGCCACGCCACAGGGCCTCCCCTAGCATGCTGGGTCCTGCCAGCCTCTGCTGTACCTCTGCAGAGAGAGGGCTGCTGCTCTTCCTCCAGATCACTGATTCTGCACTGCTCTGTCCCCAAGGGCCTCAGGATGGGTCCCCTGTTCCATGGAGCCCTTTCCGAGCCCCCAGGCCTTTTAGCAGAGGCCTCACGGTCCTCCACCACAGCACCGGCAACCCGTGGGGACAGGCATTCCTGTGGGACTGTCTATCCACAGAGGTGAGCTCAAGGGCAAGCATGTGTCCTGTCCCCAGGCTGGCTCGAGTGGCACGTTCATGGTATGCATGCCGCCCTCCCCACTCATGCACACTTAGAGCACAGTGGTCCTCAGATCCCCCTTAGCACAGTGCTTCAGGCAGATCCCACCCATGGAACAGGTTCCAGTGAGATCAATTTGCCCTGTGTGCACATATGAATGAGTGCGTGTGTAAAAGCCACCTGCTGTCCTGGGGGTCGGTCCCTAGCATGGTTTGCTGACACAGGATTGGCTCCAGGGAGCAGTGGGTCCAGGCCCTCTGGCCTACGGCACTCACCTTGCGGATCAGGTCCTGATTGTACTCATGGATCTCGGTCATGGCATCCAGCGTGGGGTTGTTGGCCAGCAGCCCACCGTCCAGGAAGCGCCCATTGGGTCGGAAGTAAGTAGGAGCTGCCCCGCTGCTTCGGGCCGCCCGCCACACCAGCTGGTCTAGGGGCGGGGAAGGAGGGCGGCCCAGTGGCACAAGGGACTGGCATAAAACCCATGCACTCCAGATCTCAGGGTGTGCGTGTTGGGGGCTGGGGGTGCGGGAAGAGGGGAGGCTGGGAACTCTTCAGAAGCAGGACCCACGAAGCCACACTCTCTGGCTAGTTCGTCCTGGTGGAAGGCAGGTACAGCTGAGGACTTTCCAGGGACTTTTCTAACCTGCCAGGGGCCTGACAGCTCCCCCGCAATCCCTGTCCTCAGCCAATAAAGACCAGTGCAGCGGGTGGGCTGGTGGCACGGTGAGGGTGCCTGATGGCAAGTGCACGACTCCCACCCACCACCCCACAGCCTCTCGGGCCAGTCGCTTCCCATGGATGCATCAAACATGGTTTAAACCTGAGGGCTGAGCTGGAGGCCTGAGGTTAACGTTCTGGTTGAAACGAGGCTCCCGGACAGTTTCTGGAGCATCGTAGTTCCGGAAGAGGTGGAGTTCAGCCGGCTGCCGGTCAGACAGTGTCCCTGTCAGCATCACCCTGGAGAGAAATGAGGCAGGAGGACGGCTGAGCCACCCGCCCATCCACCTTTCCCTTTCCCCACAATTCACACCCCAGGGCCTTGGGTAGCAGAGTGCCCACTCCAACCTCTGTTCGGGATAGGTGGGCTTCTCCCCGCACCATCCCCGCAAAACAGGCTCTCTCCGGCAGTGCTGGAGGAGTGTCAGATTGGTCCAACCTTGGGGGCACAATTCAGCAAAAGTTGGTTTTTTTGAAAGGCTAATCCAATGGAAAAACCTGTTGCAAGACTGATAAAACATGGCTGTTATCTGTTATCAAAATCAGGAAAGAAAAGGGGGCCGCACCAACACACACTGCAGACGTTAGAAAAAGGAGAATCGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCCCGTCTCTACTAATAATACAAAAATTAGGTGTGGTTGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGTCATTGCACTCCAGCCTGGGCGATAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAACAGAATATTTTGAACAACTCTAAGCCAATAAGCTTAAAGATTTAGATGAAATGGACACATTCCTAGAAAAACCTCACTTAACCAAAACTAACTCAAAAAGGTATTTAGAAACCCCGAGTGGTCAGTCTCACAACCACTATAGAAATTAATTCCATCATCAAAAATCCTCCCACCAAGCAAACTCCAGGCCTAGAAGAATTTACTATCAAGTTCTACCATAAATTCAAAATAAACTATTATACTAACTCTTCCAAGAAAAATAAAAAGAGGAAATATTTCCTCAAAACCCAAAATAGGAAAAAACGGGTCAAGTTCGCCCACGAGCGTGGACACAAAAATCTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGTAGTACAGTGGCGCAATCTCGGCTCACTGCAAGATCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGGTCTTGATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGCGCCTGGCCAAAAATCTTAAACAAAATATGATCAAACTGAACCCATCAGAATTCTCTCTAGAGAAGGCACCAGTAAGAGAGAGTAGGCCTCAAACAGGTATTTGCACATCCGACATTGACAGCAGTCAATTTACAACTAAAATATCCATCAATGGATGAATGGAGAAGCAAAACGTGTATCCAACAGACAATGGAGTTTTTCAGCCTTAAAAAGGAAGGAAATTCTGACACACGCTACAACATGGATGCCAAGTGAAATAAGCCAGTCATGGCCGGGCACGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTTAGGAGTTTGAGACTGGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAATACAAAAAATTAGCCGGGCATGGTGGTGCACGCCTATAATCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAAGCAGAAATTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGATAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAATAAGCCAGTCACAAAAAGACAAATACTGTATGATTCCACTTACATAAGGTACGGTCAAAGATAAAATTGCAACAAATTTAAAGATGTTAATTGGCTTTTATTGATGAACTGAGAGTCAGGCAGGCCACAAAACCAGAATAGGTTCAAAGAACTCTGGCCTGCAACGTGGTCAGGCAGTGTTGATGGGCT 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AAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGCTGCCTCTCTTATTTGCTTCCGAACAAGCTCTGCTGCCGATTTGCTGGATGATCTTGGGTGATGCCTCCCACTCTGGGTCCCAGGCTCCCCATCCGCACGCAATAGGAGAGTTAGACTGGCTAGTGTCTGACAGTCTGACGGTCTCTGCCGCCTGCAGGAAGCCCGCCCTGCCCGATCTGGCCCCTAGAGGGCGCTTCTCTGTCTGCCCAGAGCCTCTGCTGCGCTGCCCAGGACGCCCTGGGGCTTCGGGAAACCACAGCAGCAAGGATGCAGCTCAGGCTCCCGGCAGTGCTGTGAACATTTCACAGACAACAGCATGCCAAGGCCTCGCAGCCTCCCCAGGCAGGCGCTATGATGGCCCCATTAGGTAGCTGCAGTGAGTGCAGGCAGAACGGGGACCCCCAGAGGCGCCCTGGCTCCAGGGTCTGAGCTCAGCCACCGCGCTCGCCCACCCCGGTCACCCACCGCCCGCCACGCCACAGGGCCTCCCCTAGCATGCTGGGTCCTGCCAGCCTCTGCTGTACCTCTGCAGAGAGAGGGCTGCTGCTCTTCCTCCAGATCACTGATTCTGCACTGCTCTGTCCCCAAGGGCCTCAGGATGGGTCCCCTGTTCCATGGAGCCCTTTCCGAGCCCCCAGGCCTTTTAGCAGAGGCCTCACGGTCCTCCACCACAGCACCGGCAACCCGTGGGGACAGGCATTCCTGTGGGACTGTCTATCCACAGAGGTGAGCTCAAGGGCAAGCATGTGTCCTGTCCCCAGGCTGGCTCGAGTGGCACGTTCATGGTATGCATGCCGCCCTCCCCACTCATGCACACTTAGAGCACAGTGGTCCTCAGATCCCCCTTAGCACAGTGCTTCAGGCAGATCCCACCCATGGAACAGGTTCCAGTGAGATCAATTTGCCCTGTGTGCACATATGAATGAGTGCGTGTGTAAAAGCCACCTGCTGTCCTGGGGGTCGGTCCCTAGCATGGTTTGCTGACACAGGATTGGCTCCAGGGAGCAGTGGGTCCAGGCCCTCTGGCCTACGGCACTCACCTTGCGGATCAGGTCCTGATTGTACTCATGGATCTCGGTCATGGCATCCAGCGTGGGGTTGTTGGCCAGCAGCCCACCGTCCAGGAAGCGCCCATTGGGTCGGAAGTAAGTAGGAGCTGCCCCGCTGCTTCGGGCCGCCCGCCACACCAGCTGGTCTAGGGGCGGGGAAGGAGGGCGGCCCAGTGGCACAAGGGACTGGCATAAAACCCATGCACTCCAGATCTCAGGGTGTGCGTGTTGGGGGCTGGGGGTGCGGGAAGAGGGGAGGCTGGGAACTCTTCAGAAGCAGGACCCACGAAGCCACACTCTCTGGCTAGTTCGTCCTGGTGGAAGGCAGGTACAGCTGAGGACTTTCCAGGGACTTTTCTAACCTGCCAGGGGCCTGACAGCTCCCCCGCAATCCCTGTCCTCAGCCAATAAAGACCAGTGCAGCGGGTGGGCTGGTGGCACGGTGAGGGTGCCTGATGGCAAGTGCACGACTCCCACCCACCACCCCACAGCCTCTCGGGCCAGTCGCTTCCCATGGATGCATCAAACATGGTTTAAACCTGAGGGCTGAGCTGGAGGCCTGAGGTTAACGTTCTGGTTGAAACGAGGCTCCCGGACAGTTTCTGGAGCATCGTAGTTCCGGAAGAGGTGGAGTTCAGCCGGCTGCCGGTCAGACAGTGTCCCTATCAGCATCACCCTGGAGAGAAATGAGGCAGGAGGACGGCTGAGCCACCCGCCCATCCACCTTTCCCTTTCCCCACAATTCACACCCCAGGGCCTTGGGTAGCAGAGTGCCCACTCCAACCTCTGTTCGGGATAGGTGGGCTTCTCCCCGCACCATCCCCGCAAAACAGGCTCTCTCCGGCAGTGCTGGAGGAGTGTCAGATTGGTCCAACCTTGGGGGCACAATTCAGCAAAAGTTGGTTTTTTTGAAAGGCTAATCCAATGGAAAAACCTGTTGCAAGACTGATAAAACATGGCTGTTATCTGTTATCAAAATCAGGAAAGAAAAGGGGGCCGCACCAACACACACTGCAGACGTTAGAAAAAGGAGAATCGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCCCGTCTCTACTAATAATACAAAAATTAGGTGTGGTTGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGTCATTGCACTCCAGCCTGGGCGATAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAACAGAATATTTTGAACAACTCTAAGCCAATAAGCTTAAAGATTTAGATGAAATGGACACATTCCTAGAAAAACCTCACTTAACCAAAACTAACTCAAAAAGGTATTTAGAAACCCCGAGTGGTCAGTCTCACAACCACTATAGAAATTAATTCCATCATCAAAAATCCTCCCACCAAGCAAACTCCAGGCCTAGAAGAATTTACTATCAAGTTCTACCATAAATTCAAAATAAACTATTATACTAACTCTTCCAAGAAAAATAAAAAGAGGAAATATTTCCTCAAAACCCAAAATAGGAAAAAACGGGTCAAGTTCGCCCACGAGCGTGGACACAAAAATCTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGTAGTACAGTGGCGCAATCTCGGCTCACTGCAAGATCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGGTCTTGATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGCGCCTGGCCAAAAATCTTAAACAAAATATGATCAAACTGAACCCATCAGAATTCTCTCTAGAGAAGGCACCAGTAAGAGAGAGTAGGCCTCAAACAGGTATTTGCACATCCGACATTGACAGCAGTCAATTTACAACTAAAATATCCATCAATGGATGAATGGAGAAGCAAAACGTGTATCCAACAGACAATGGAGTTTTTCAGCCTTAAAAAGGAAGGAAATTCTGACACACGCTACAACATGGATGCCAAGTGAAATAAGCCAGTCATGGCCGGGCACGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTTAGGAGTTTGAGACTGGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAATACAAAAAATTAGCCGGGCATGGTGGTGCACGCCTATAATCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAAGCAGAAATTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGATAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAATAAGCCAGTCACAAAAAGACAAATACTGTATGATTCCACTTACATAAGGTACGGTCAAAGATAAAATTGCAACAAATTTAAAGATGTTAATTGGCTTTTATTGATGAACTGAGAGTCAGGCAGGCCACAAAACCAGAATAGGTTCAAAGAACTCTGGCCTGCAACGTGGTCAGGCAGTGTTGATGGGCT 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Task1_train_28807 | This alteration occurs within gene PLA2G6 (phospholipase A2 group VI) located on Chromosome 22. Is it associated with a disease or is it a benign variant? | Pathogenic; Infantile neuroaxonal dystrophy | AAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGCTGCCTCTCTTATTTGCTTCCGAACAAGCTCTGCTGCCGATTTGCTGGATGATCTTGGGTGATGCCTCCCACTCTGGGTCCCAGGCTCCCCATCCGCACGCAATAGGAGAGTTAGACTGGCTAGTGTCTGACAGTCTGACGGTCTCTGCCGCCTGCAGGAAGCCCGCCCTGCCCGATCTGGCCCCTAGAGGGCGCTTCTCTGTCTGCCCAGAGCCTCTGCTGCGCTGCCCAGGACGCCCTGGGGCTTCGGGAAACCACAGCAGCAAGGATGCAGCTCAGGCTCCCGGCAGTGCTGTGAACATTTCACAGACAACAGCATGCCAAGGCCTCGCAGCCTCCCCAGGCAGGCGCTATGATGGCCCCATTAGGTAGCTGCAGTGAGTGCAGGCAGAACGGGGACCCCCAGAGGCGCCCTGGCTCCAGGGTCTGAGCTCAGCCACCGCGCTCGCCCACCCCGGTCACCCACCGCCCGCCACGCCACAGGGCCTCCCCTAGCATGCTGGGTCCTGCCAGCCTCTGCTGTACCTCTGCAGAGAGAGGGCTGCTGCTCTTCCTCCAGATCACTGATTCTGCACTGCTCTGTCCCCAAGGGCCTCAGGATGGGTCCCCTGTTCCATGGAGCCCTTTCCGAGCCCCCAGGCCTTTTAGCAGAGGCCTCACGGTCCTCCACCACAGCACCGGCAACCCGTGGGGACAGGCATTCCTGTGGGACTGTCTATCCACAGAGGTGAGCTCAAGGGCAAGCATGTGTCCTGTCCCCAGGCTGGCTCGAGTGGCACGTTCATGGTATGCATGCCGCCCTCCCCACTCATGCACACTTAGAGCACAGTGGTCCTCAGATCCCCCTTAGCACAGTGCTTCAGGCAGATCCCACCCATGGAACAGGTTCCAGTGAGATCAATTTGCCCTGTGTGCACATATGAATGAGTGCGTGTGTAAAAGCCACCTGCTGTCCTGGGGGTCGGTCCCTAGCATGGTTTGCTGACACAGGATTGGCTCCAGGGAGCAGTGGGTCCAGGCCCTCTGGCCTACGGCACTCACCTTGCGGATCAGGTCCTGATTGTACTCATGGATCTCGGTCATGGCATCCAGCGTGGGGTTGTTGGCCAGCAGCCCACCGTCCAGGAAGCGCCCATTGGGTCGGAAGTAAGTAGGAGCTGCCCCGCTGCTTCGGGCCGCCCGCCACACCAGCTGGTCTAGGGGCGGGGAAGGAGGGCGGCCCAGTGGCACAAGGGACTGGCATAAAACCCATGCACTCCAGATCTCAGGGTGTGCGTGTTGGGGGCTGGGGGTGCGGGAAGAGGGGAGGCTGGGAACTCTTCAGAAGCAGGACCCACGAAGCCACACTCTCTGGCTAGTTCGTCCTGGTGGAAGGCAGGTACAGCTGAGGACTTTCCAGGGACTTTTCTAACCTGCCAGGGGCCTGACAGCTCCCCCGCAATCCCTGTCCTCAGCCAATAAAGACCAGTGCAGCGGGTGGGCTGGTGGCACGGTGAGGGTGCCTGATGGCAAGTGCACGACTCCCACCCACCACCCCACAGCCTCTCGGGCCAGTCGCTTCCCATGGATGCATCAAACATGGTTTAAACCTGAGGGCTGAGCTGGAGGCCTGAGGTTAACGTTCTGGTTGAAACGAGGCTCCCGGACAGTTTCTGGAGCATCGTAGTTCCGGAAGAGGTGGAGTTCAGCCGGCTGCCGGTCAGACAGTGTCCCTGTCAGCATCACCCTGGAGAGAAATGAGGCAGGAGGACGGCTGAGCCACCCGCCCATCCACCTTTCCCTTTCCCCACAATTCACACCCCAGGGCCTTGGGTAGCAGAGTGCCCACTCCAACCTCTGTTCGGGATAGGTGGGCTTCTCCCCGCACCATCCCCGCAAAACAGGCTCTCTCCGGCAGTGCTGGAGGAGTGTCAGATTGGTCCAACCTTGGGGGCACAATTCAGCAAAAGTTGGTTTTTTTGAAAGGCTAATCCAATGGAAAAACCTGTTGCAAGACTGATAAAACATGGCTGTTATCTGTTATCAAAATCAGGAAAGAAAAGGGGGCCGCACCAACACACACTGCAGACGTTAGAAAAAGGAGAATCGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCCCGTCTCTACTAATAATACAAAAATTAGGTGTGGTTGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGTCATTGCACTCCAGCCTGGGCGATAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAACAGAATATTTTGAACAACTCTAAGCCAATAAGCTTAAAGATTTAGATGAAATGGACACATTCCTAGAAAAACCTCACTTAACCAAAACTAACTCAAAAAGGTATTTAGAAACCCCGAGTGGTCAGTCTCACAACCACTATAGAAATTAATTCCATCATCAAAAATCCTCCCACCAAGCAAACTCCAGGCCTAGAAGAATTTACTATCAAGTTCTACCATAAATTCAAAATAAACTATTATACTAACTCTTCCAAGAAAAATAAAAAGAGGAAATATTTCCTCAAAACCCAAAATAGGAAAAAACGGGTCAAGTTCGCCCACGAGCGTGGACACAAAAATCTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGTAGTACAGTGGCGCAATCTCGGCTCACTGCAAGATCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGGTCTTGATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGCGCCTGGCCAAAAATCTTAAACAAAATATGATCAAACTGAACCCATCAGAATTCTCTCTAGAGAAGGCACCAGTAAGAGAGAGTAGGCCTCAAACAGGTATTTGCACATCCGACATTGACAGCAGTCAATTTACAACTAAAATATCCATCAATGGATGAATGGAGAAGCAAAACGTGTATCCAACAGACAATGGAGTTTTTCAGCCTTAAAAAGGAAGGAAATTCTGACACACGCTACAACATGGATGCCAAGTGAAATAAGCCAGTCATGGCCGGGCACGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTTAGGAGTTTGAGACTGGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAATACAAAAAATTAGCCGGGCATGGTGGTGCACGCCTATAATCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAAGCAGAAATTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGATAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAATAAGCCAGTCACAAAAAGACAAATACTGTATGATTCCACTTACATAAGGTACGGTCAAAGATAAAATTGCAACAAATTTAAAGATGTTAATTGGCTTTTATTGATGAACTGAGAGTCAGGCAGGCCACAAAACCAGAATAGGTTCAAAGAACTCTGGCCTGCAACGTGGTCAGGCAGTGTTGATGGGCT 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AAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGCTGCCTCTCTTATTTGCTTCCGAACAAGCTCTGCTGCCGATTTGCTGGATGATCTTGGGTGATGCCTCCCACTCTGGGTCCCAGGCTCCCCATCCGCACGCAATAGGAGAGTTAGACTGGCTAGTGTCTGACAGTCTGACGGTCTCTGCCGCCTGCAGGAAGCCCGCCCTGCCCGATCTGGCCCCTAGAGGGCGCTTCTCTGTCTGCCCAGAGCCTCTGCTGCGCTGCCCAGGACGCCCTGGGGCTTCGGGAAACCACAGCAGCAAGGATGCAGCTCAGGCTCCCGGCAGTGCTGTGAACATTTCACAGACAACAGCATGCCAAGGCCTCGCAGCCTCCCCAGGCAGGCGCTATGATGGCCCCATTAGGTAGCTGCAGTGAGTGCAGGCAGAACGGGGACCCCCAGAGGCGCCCTGGCTCCAGGGTCTGAGCTCAGCCACCGCGCTCGCCCACCCCGGTCACCCACCGCCCGCCACGCCACAGGGCCTCCCCTAGCATGCTGGGTCCTGCCAGCCTCTGCTGTACCTCTGCAGAGAGAGGGCTGCTGCTCTTCCTCCAGATCACTGATTCTGCACTGCTCTGTCCCCAAGGGCCTCAGGATGGGTCCCCTGTTCCATGGAGCCCTTTCCGAGCCCCCAGGCCTTTTAGCAGAGGCCTCACGGTCCTCCACCACAGCACCGGCAACCCGTGGGGACAGGCATTCCTGTGGGACTGTCTATCCACAGAGGTGAGCTCAAGGGCAAGCATGTGTCCTGTCCCCAGGCTGGCTCGAGTGGCACGTTCATGGTATGCATGCCGCCCTCCCCACTCATGCACACTTAGAGCACAGTGGTCCTCAGATCCCCCTTAGCACAGTGCTTCAGGCAGATCCCACCCATGGAACAGGTTCCAGTGAGATCAATTTGCCCTGTGTGCACATATGAATGAGTGCGTGTGTAAAAGCCACCTGCTGTCCTGGGGGTCGGTCCCTAGCATGGTTTGCTGACACAGGATTGGCTCCAGGGAGCAGTGGGTCCAGGCCCTCTGGCCTACGGCACTCACCTTGCGGATCAGGTCCTGATTGTACTCATGGATCTCGGTCATGGCATCCAGCGTGGGGTTGTTGGCCAGCAGCCCACCGTCCAGGAAGCGCCCATTGGGTCGGAAGTAAGTAGGAGCTGCCCCGCTGCTTCGGGCCGCCCGCCACACCAGCTGGTCTAGGGGCGGGGAAGGAGGGCGGCCCAGTGGCACAAGGGACTGGCATAAAACCCATGCACTCCAGATCTCAGGGTGTGCGTGTTGGGGGCTGGGGGTGCGGGAAGAGGGGAGGCTGGGAACTCTTCAGAAGCAGGACCCACGAAGCCACACTCTCTGGCTAGTTCGTCCTGGTGGAAGGCAGGTACAGCTGAGGACTTTCCAGGGACTTTTCTAACCTGCCAGGGGCCTGACAGCTCCCCCGCAATCCCTGTCCTCAGCCAATAAAGACCAGTGCAGCGGGTGGGCTGGTGGCACGGTGAGGGTGCCTGATGGCAAGTGCACGACTCCCACCCACCACCCCACAGCCTCTCGGGCCAGTCGCTTCCCATGGATGCATCAAACATGGTTTAAACCTGAGGGCTGAGCTGGAGGCCTGAGGTTAACGTTCTGGTTGAAACGAGGCTCCCGGACAGTTTCTGGAGCATCGTAGTTCCGGAAGAGGTGGAGTTCAGCCGGCTGCCGGTCAGACAGTGTCCCTATCAGCATCACCCTGGAGAGAAATGAGGCAGGAGGACGGCTGAGCCACCCGCCCATCCACCTTTCCCTTTCCCCACAATTCACACCCCAGGGCCTTGGGTAGCAGAGTGCCCACTCCAACCTCTGTTCGGGATAGGTGGGCTTCTCCCCGCACCATCCCCGCAAAACAGGCTCTCTCCGGCAGTGCTGGAGGAGTGTCAGATTGGTCCAACCTTGGGGGCACAATTCAGCAAAAGTTGGTTTTTTTGAAAGGCTAATCCAATGGAAAAACCTGTTGCAAGACTGATAAAACATGGCTGTTATCTGTTATCAAAATCAGGAAAGAAAAGGGGGCCGCACCAACACACACTGCAGACGTTAGAAAAAGGAGAATCGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCCCGTCTCTACTAATAATACAAAAATTAGGTGTGGTTGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGTCATTGCACTCCAGCCTGGGCGATAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAACAGAATATTTTGAACAACTCTAAGCCAATAAGCTTAAAGATTTAGATGAAATGGACACATTCCTAGAAAAACCTCACTTAACCAAAACTAACTCAAAAAGGTATTTAGAAACCCCGAGTGGTCAGTCTCACAACCACTATAGAAATTAATTCCATCATCAAAAATCCTCCCACCAAGCAAACTCCAGGCCTAGAAGAATTTACTATCAAGTTCTACCATAAATTCAAAATAAACTATTATACTAACTCTTCCAAGAAAAATAAAAAGAGGAAATATTTCCTCAAAACCCAAAATAGGAAAAAACGGGTCAAGTTCGCCCACGAGCGTGGACACAAAAATCTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGTAGTACAGTGGCGCAATCTCGGCTCACTGCAAGATCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGGTCTTGATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGCGCCTGGCCAAAAATCTTAAACAAAATATGATCAAACTGAACCCATCAGAATTCTCTCTAGAGAAGGCACCAGTAAGAGAGAGTAGGCCTCAAACAGGTATTTGCACATCCGACATTGACAGCAGTCAATTTACAACTAAAATATCCATCAATGGATGAATGGAGAAGCAAAACGTGTATCCAACAGACAATGGAGTTTTTCAGCCTTAAAAAGGAAGGAAATTCTGACACACGCTACAACATGGATGCCAAGTGAAATAAGCCAGTCATGGCCGGGCACGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTTAGGAGTTTGAGACTGGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAATACAAAAAATTAGCCGGGCATGGTGGTGCACGCCTATAATCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAAGCAGAAATTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGATAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAATAAGCCAGTCACAAAAAGACAAATACTGTATGATTCCACTTACATAAGGTACGGTCAAAGATAAAATTGCAACAAATTTAAAGATGTTAATTGGCTTTTATTGATGAACTGAGAGTCAGGCAGGCCACAAAACCAGAATAGGTTCAAAGAACTCTGGCCTGCAACGTGGTCAGGCAGTGTTGATGGGCT 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Task1_train_28808 | Here is a mutation in PLA2G6 (phospholipase A2 group VI) on Chromosome 22. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Iron accumulation in brain | AAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGCTGCCTCTCTTATTTGCTTCCGAACAAGCTCTGCTGCCGATTTGCTGGATGATCTTGGGTGATGCCTCCCACTCTGGGTCCCAGGCTCCCCATCCGCACGCAATAGGAGAGTTAGACTGGCTAGTGTCTGACAGTCTGACGGTCTCTGCCGCCTGCAGGAAGCCCGCCCTGCCCGATCTGGCCCCTAGAGGGCGCTTCTCTGTCTGCCCAGAGCCTCTGCTGCGCTGCCCAGGACGCCCTGGGGCTTCGGGAAACCACAGCAGCAAGGATGCAGCTCAGGCTCCCGGCAGTGCTGTGAACATTTCACAGACAACAGCATGCCAAGGCCTCGCAGCCTCCCCAGGCAGGCGCTATGATGGCCCCATTAGGTAGCTGCAGTGAGTGCAGGCAGAACGGGGACCCCCAGAGGCGCCCTGGCTCCAGGGTCTGAGCTCAGCCACCGCGCTCGCCCACCCCGGTCACCCACCGCCCGCCACGCCACAGGGCCTCCCCTAGCATGCTGGGTCCTGCCAGCCTCTGCTGTACCTCTGCAGAGAGAGGGCTGCTGCTCTTCCTCCAGATCACTGATTCTGCACTGCTCTGTCCCCAAGGGCCTCAGGATGGGTCCCCTGTTCCATGGAGCCCTTTCCGAGCCCCCAGGCCTTTTAGCAGAGGCCTCACGGTCCTCCACCACAGCACCGGCAACCCGTGGGGACAGGCATTCCTGTGGGACTGTCTATCCACAGAGGTGAGCTCAAGGGCAAGCATGTGTCCTGTCCCCAGGCTGGCTCGAGTGGCACGTTCATGGTATGCATGCCGCCCTCCCCACTCATGCACACTTAGAGCACAGTGGTCCTCAGATCCCCCTTAGCACAGTGCTTCAGGCAGATCCCACCCATGGAACAGGTTCCAGTGAGATCAATTTGCCCTGTGTGCACATATGAATGAGTGCGTGTGTAAAAGCCACCTGCTGTCCTGGGGGTCGGTCCCTAGCATGGTTTGCTGACACAGGATTGGCTCCAGGGAGCAGTGGGTCCAGGCCCTCTGGCCTACGGCACTCACCTTGCGGATCAGGTCCTGATTGTACTCATGGATCTCGGTCATGGCATCCAGCGTGGGGTTGTTGGCCAGCAGCCCACCGTCCAGGAAGCGCCCATTGGGTCGGAAGTAAGTAGGAGCTGCCCCGCTGCTTCGGGCCGCCCGCCACACCAGCTGGTCTAGGGGCGGGGAAGGAGGGCGGCCCAGTGGCACAAGGGACTGGCATAAAACCCATGCACTCCAGATCTCAGGGTGTGCGTGTTGGGGGCTGGGGGTGCGGGAAGAGGGGAGGCTGGGAACTCTTCAGAAGCAGGACCCACGAAGCCACACTCTCTGGCTAGTTCGTCCTGGTGGAAGGCAGGTACAGCTGAGGACTTTCCAGGGACTTTTCTAACCTGCCAGGGGCCTGACAGCTCCCCCGCAATCCCTGTCCTCAGCCAATAAAGACCAGTGCAGCGGGTGGGCTGGTGGCACGGTGAGGGTGCCTGATGGCAAGTGCACGACTCCCACCCACCACCCCACAGCCTCTCGGGCCAGTCGCTTCCCATGGATGCATCAAACATGGTTTAAACCTGAGGGCTGAGCTGGAGGCCTGAGGTTAACGTTCTGGTTGAAACGAGGCTCCCGGACAGTTTCTGGAGCATCGTAGTTCCGGAAGAGGTGGAGTTCAGCCGGCTGCCGGTCAGACAGTGTCCCTGTCAGCATCACCCTGGAGAGAAATGAGGCAGGAGGACGGCTGAGCCACCCGCCCATCCACCTTTCCCTTTCCCCACAATTCACACCCCAGGGCCTTGGGTAGCAGAGTGCCCACTCCAACCTCTGTTCGGGATAGGTGGGCTTCTCCCCGCACCATCCCCGCAAAACAGGCTCTCTCCGGCAGTGCTGGAGGAGTGTCAGATTGGTCCAACCTTGGGGGCACAATTCAGCAAAAGTTGGTTTTTTTGAAAGGCTAATCCAATGGAAAAACCTGTTGCAAGACTGATAAAACATGGCTGTTATCTGTTATCAAAATCAGGAAAGAAAAGGGGGCCGCACCAACACACACTGCAGACGTTAGAAAAAGGAGAATCGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCCCGTCTCTACTAATAATACAAAAATTAGGTGTGGTTGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGTCATTGCACTCCAGCCTGGGCGATAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAACAGAATATTTTGAACAACTCTAAGCCAATAAGCTTAAAGATTTAGATGAAATGGACACATTCCTAGAAAAACCTCACTTAACCAAAACTAACTCAAAAAGGTATTTAGAAACCCCGAGTGGTCAGTCTCACAACCACTATAGAAATTAATTCCATCATCAAAAATCCTCCCACCAAGCAAACTCCAGGCCTAGAAGAATTTACTATCAAGTTCTACCATAAATTCAAAATAAACTATTATACTAACTCTTCCAAGAAAAATAAAAAGAGGAAATATTTCCTCAAAACCCAAAATAGGAAAAAACGGGTCAAGTTCGCCCACGAGCGTGGACACAAAAATCTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGTAGTACAGTGGCGCAATCTCGGCTCACTGCAAGATCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGGTCTTGATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGCGCCTGGCCAAAAATCTTAAACAAAATATGATCAAACTGAACCCATCAGAATTCTCTCTAGAGAAGGCACCAGTAAGAGAGAGTAGGCCTCAAACAGGTATTTGCACATCCGACATTGACAGCAGTCAATTTACAACTAAAATATCCATCAATGGATGAATGGAGAAGCAAAACGTGTATCCAACAGACAATGGAGTTTTTCAGCCTTAAAAAGGAAGGAAATTCTGACACACGCTACAACATGGATGCCAAGTGAAATAAGCCAGTCATGGCCGGGCACGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTTAGGAGTTTGAGACTGGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAATACAAAAAATTAGCCGGGCATGGTGGTGCACGCCTATAATCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAAGCAGAAATTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGATAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAATAAGCCAGTCACAAAAAGACAAATACTGTATGATTCCACTTACATAAGGTACGGTCAAAGATAAAATTGCAACAAATTTAAAGATGTTAATTGGCTTTTATTGATGAACTGAGAGTCAGGCAGGCCACAAAACCAGAATAGGTTCAAAGAACTCTGGCCTGCAACGTGGTCAGGCAGTGTTGATGGGCT 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AAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGCTGCCTCTCTTATTTGCTTCCGAACAAGCTCTGCTGCCGATTTGCTGGATGATCTTGGGTGATGCCTCCCACTCTGGGTCCCAGGCTCCCCATCCGCACGCAATAGGAGAGTTAGACTGGCTAGTGTCTGACAGTCTGACGGTCTCTGCCGCCTGCAGGAAGCCCGCCCTGCCCGATCTGGCCCCTAGAGGGCGCTTCTCTGTCTGCCCAGAGCCTCTGCTGCGCTGCCCAGGACGCCCTGGGGCTTCGGGAAACCACAGCAGCAAGGATGCAGCTCAGGCTCCCGGCAGTGCTGTGAACATTTCACAGACAACAGCATGCCAAGGCCTCGCAGCCTCCCCAGGCAGGCGCTATGATGGCCCCATTAGGTAGCTGCAGTGAGTGCAGGCAGAACGGGGACCCCCAGAGGCGCCCTGGCTCCAGGGTCTGAGCTCAGCCACCGCGCTCGCCCACCCCGGTCACCCACCGCCCGCCACGCCACAGGGCCTCCCCTAGCATGCTGGGTCCTGCCAGCCTCTGCTGTACCTCTGCAGAGAGAGGGCTGCTGCTCTTCCTCCAGATCACTGATTCTGCACTGCTCTGTCCCCAAGGGCCTCAGGATGGGTCCCCTGTTCCATGGAGCCCTTTCCGAGCCCCCAGGCCTTTTAGCAGAGGCCTCACGGTCCTCCACCACAGCACCGGCAACCCGTGGGGACAGGCATTCCTGTGGGACTGTCTATCCACAGAGGTGAGCTCAAGGGCAAGCATGTGTCCTGTCCCCAGGCTGGCTCGAGTGGCACGTTCATGGTATGCATGCCGCCCTCCCCACTCATGCACACTTAGAGCACAGTGGTCCTCAGATCCCCCTTAGCACAGTGCTTCAGGCAGATCCCACCCATGGAACAGGTTCCAGTGAGATCAATTTGCCCTGTGTGCACATATGAATGAGTGCGTGTGTAAAAGCCACCTGCTGTCCTGGGGGTCGGTCCCTAGCATGGTTTGCTGACACAGGATTGGCTCCAGGGAGCAGTGGGTCCAGGCCCTCTGGCCTACGGCACTCACCTTGCGGATCAGGTCCTGATTGTACTCATGGATCTCGGTCATGGCATCCAGCGTGGGGTTGTTGGCCAGCAGCCCACCGTCCAGGAAGCGCCCATTGGGTCGGAAGTAAGTAGGAGCTGCCCCGCTGCTTCGGGCCGCCCGCCACACCAGCTGGTCTAGGGGCGGGGAAGGAGGGCGGCCCAGTGGCACAAGGGACTGGCATAAAACCCATGCACTCCAGATCTCAGGGTGTGCGTGTTGGGGGCTGGGGGTGCGGGAAGAGGGGAGGCTGGGAACTCTTCAGAAGCAGGACCCACGAAGCCACACTCTCTGGCTAGTTCGTCCTGGTGGAAGGCAGGTACAGCTGAGGACTTTCCAGGGACTTTTCTAACCTGCCAGGGGCCTGACAGCTCCCCCGCAATCCCTGTCCTCAGCCAATAAAGACCAGTGCAGCGGGTGGGCTGGTGGCACGGTGAGGGTGCCTGATGGCAAGTGCACGACTCCCACCCACCACCCCACAGCCTCTCGGGCCAGTCGCTTCCCATGGATGCATCAAACATGGTTTAAACCTGAGGGCTGAGCTGGAGGCCTGAGGTTAACGTTCTGGTTGAAACGAGGCTCCCGGACAGTTTCTGGAGCATCGTAGTTCCGGAAGAGGTGGAGTTCAGCCGGCTGCCGGTCAGACAGTGTCCCTATCAGCATCACCCTGGAGAGAAATGAGGCAGGAGGACGGCTGAGCCACCCGCCCATCCACCTTTCCCTTTCCCCACAATTCACACCCCAGGGCCTTGGGTAGCAGAGTGCCCACTCCAACCTCTGTTCGGGATAGGTGGGCTTCTCCCCGCACCATCCCCGCAAAACAGGCTCTCTCCGGCAGTGCTGGAGGAGTGTCAGATTGGTCCAACCTTGGGGGCACAATTCAGCAAAAGTTGGTTTTTTTGAAAGGCTAATCCAATGGAAAAACCTGTTGCAAGACTGATAAAACATGGCTGTTATCTGTTATCAAAATCAGGAAAGAAAAGGGGGCCGCACCAACACACACTGCAGACGTTAGAAAAAGGAGAATCGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCCCGTCTCTACTAATAATACAAAAATTAGGTGTGGTTGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGTCATTGCACTCCAGCCTGGGCGATAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAACAGAATATTTTGAACAACTCTAAGCCAATAAGCTTAAAGATTTAGATGAAATGGACACATTCCTAGAAAAACCTCACTTAACCAAAACTAACTCAAAAAGGTATTTAGAAACCCCGAGTGGTCAGTCTCACAACCACTATAGAAATTAATTCCATCATCAAAAATCCTCCCACCAAGCAAACTCCAGGCCTAGAAGAATTTACTATCAAGTTCTACCATAAATTCAAAATAAACTATTATACTAACTCTTCCAAGAAAAATAAAAAGAGGAAATATTTCCTCAAAACCCAAAATAGGAAAAAACGGGTCAAGTTCGCCCACGAGCGTGGACACAAAAATCTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGTAGTACAGTGGCGCAATCTCGGCTCACTGCAAGATCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGGTCTTGATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGCGCCTGGCCAAAAATCTTAAACAAAATATGATCAAACTGAACCCATCAGAATTCTCTCTAGAGAAGGCACCAGTAAGAGAGAGTAGGCCTCAAACAGGTATTTGCACATCCGACATTGACAGCAGTCAATTTACAACTAAAATATCCATCAATGGATGAATGGAGAAGCAAAACGTGTATCCAACAGACAATGGAGTTTTTCAGCCTTAAAAAGGAAGGAAATTCTGACACACGCTACAACATGGATGCCAAGTGAAATAAGCCAGTCATGGCCGGGCACGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTTAGGAGTTTGAGACTGGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAATACAAAAAATTAGCCGGGCATGGTGGTGCACGCCTATAATCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAAGCAGAAATTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGATAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAATAAGCCAGTCACAAAAAGACAAATACTGTATGATTCCACTTACATAAGGTACGGTCAAAGATAAAATTGCAACAAATTTAAAGATGTTAATTGGCTTTTATTGATGAACTGAGAGTCAGGCAGGCCACAAAACCAGAATAGGTTCAAAGAACTCTGGCCTGCAACGTGGTCAGGCAGTGTTGATGGGCT 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Task1_train_28809 | This variant lies on Chromosome 22 and affects the gene PLA2G6 (phospholipase A2 group VI). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Autosomal recessive Parkinson disease 14 | TCACAGCCCACTGTAGCCTCAGCCTCCGGGGCTCAAGTGATCCTCCCACCTCAGCCTCTCAATTAGCTGGGACTACAGCCATAGTGCCACCATGCCCAGCTAATTGTTAGTTTTAAATTTTTTGTAGAGATGAGGGTCTCACTATGTTGCCCAGGCTGGTCTCGACCTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGAGCTGGGATTACAGGCTTGAGCCACCATGCCTGGCATATTCCTATTTTTGAGAAGAGGTAGAAACTTCAGGGTCTATGCTTGTATCCACTTCTCTCTACTGCCCCCAAGAATAGCCATGATGTTTTTGAAGAAGGCCAAGGTGGAGGATCTGCCACCCAGACACCAGGACTCACCACACAGCGGTAGTTTTTTATGCTCTGTGGTCCGGGCACAGAGACAGCTTTCCAACCAGTGGAACAAAACACAGCCTGGAGCAGATCCAAGAGCAGAGGGATGCTTGACCCACTGCTGAGGAAGCGGAGGGAAGGACAGACTTCACAGATGGGGCTGGGAAAAATTGGCCAATCACGTGGAAAACATTAAATTGGATCTTGGATTTCACCCTCATACAAAAATCAATTCCAGGTTGATAAAAGACCTCAATGTAAAAGGCAGATCTAGAGAGCTTTCCAGCTCGACACAGGAGAATCGTGTGCTGCTTGGGGGCAGCAAAGGGGTTTATGAACGAGAAATAAAAAGCACAAACTAGGCTGGGCATGGTGGCTGATGCCTGTAATGGGAAACCAAGGCGGGAGGATCGCCTCAGCTCAGGAGTTCAAGACTAGCCTGGACAACATGGTGAAACCCCATCTCTACAAAAAATACATGTGTTGGCACATGCTAGTAGTCCCAGGCACTCAGGCGGCTGAGATGGGAGGACTGCTTGAACCCAGGAGGTCGAGGCTGCAGTAAGCCGTGTTCACAGCAATATACTCCAGCATGGGCCCCACAGCAAGACCCTGTTTCAAAAAAAAGAAAGAAAGAAAGGAAAAAATCACAAACTACAAGAAGAAAAATATTTATAAATATTATCTACCTCATTAAGAACATGGGCCACCAAAACCAAAACCAAAACAAAAAACAAAAAACAAAAACCTAGAAACACCACAGAGCAGAAAGACAAGCCACAGAGTGGGAAAAAAGATTGAAGGTCCCTGGCCTTGGACCCTAGGGAAGACCGCAGAGGGGATGCCGGGCCCCTAAGACTGGGGGACACTCACTTTCAAAATATGAAAAAATCACTCAGAAATGCTCAAAACACTCCTCTTGGAACACACCATTCATCCAGCCCCGAACGGGATGCATTGCTTAGTCCTAGGATTTGGGCTTCCCAAACAAATGTTTCCTGGAAATGTGACTTTCTCCTTCAGTCTGACTTAAATTAGTTCAAGTCTTGTAGGCCTTAAATTAAAGGTAAGACTGAAGCCCTCTGATTATAACCTAGTAGTCCGATCCTGGGAGCGAGTGCTGTCTGAAATGTGAGAAAATGTTTAGCCGTGTCATTTGAAAGGCCAGTGGGTTCCTTTTGCCTGGGCAGCAAAAACCCAGCCTCTGCCCAGGTGGTCTCAGAGAAGGGTGGCCCAGGCTCTCTCCAGGCAAGCCCCAGACCCCTGGCCGGGCAGGGCAGAGCCAGGCAGGGCAGAGCCGGCAGGGCAGAGCCGGGCAGGGCAGAGCCAGGCAGGGCAGAGCCAGGCCCACCAGGCCACGCCCCTCCTGCGCTCAGCAGGTGTCTGCATGCCCAAGTGAGAGCCACACCCCAGCCCTCTGCCTCCCTGGGAAGGGGGTTCCCTCTGCTCCCCTCAAGCGTGGGGCGCTCTTCCCCCTCCCTCAGCAGGACAGGGAGCCCTCTGTCCCCAGGGAACAGCCACAGTGGGCACAGCTGCGGCCACGGCCCCAGTGCGCCAGGGCTTACTTGGGTTTCCTGACGTCCGTCATCTTGGTGTGCTCCCCAAACTCCCGCTTCAGGAACTCCTCCAGGGGCCCCGACTCGTAGGGCCTGGAGCCCCGGAACACCTCATCCTTCATGCGAAAGTACATGCCGCGCATGTAGGCCATGGACTTACCTAGGAACAAAGGGGTCAGAGGCGGGGAGATGCAGCGGCCACACGCAGGGCTCCCGTAGAACAGCCTGCAGAGCGCCTGAACGCAGGAGGTGGCAGGAGGAAGCGGGTTTACCGAGGCCTAAGCAAACCCAAATTCTGGGCCCTTCCTTTGCAACCTCCCAGACAGACAGAGAGAAACCTCCTTCCGGCTGGACATGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTATTAAAAATACAAAAATTCGCCAGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGCAGGAGAATCGCTTGAACCCGGGAGCGGAGGTTGCAGTGAGCCAAGATGCACCACTGCACTCCAGCCTGGGCAACGGAGAGACTCAAAAACCACTGAAGCCCCACGGCTCTGCACTTCATCTTGTATTCATGATTTTGTATTATTTTCCTTAAAGAAGAGCCCCTCAAGAGTAAAAGCTTATAAAAGCTAGACCCACGTTGTTTGTCACAGAAAACAAGGAATAGCCCTGTCCTTTGAGCCTTCAGAACAGACAGGGCCAAGGGGCCGGCTGCACCTCCAGGAAGGAGAAGCTGCCCCACTTCCCCCGTGAGGCAGTGAGTTCCCCAGGGCCAGGGATGTACAAGCAGAGGGTAGCTGAAAGGAGGCCATCTGCCCACACCGGAGGATCAGCCAGGAGACCTCTCAAATCCCCTCCATGGCCCCTGGGAGTCTCAAGACCCCGGATGGGGAAGAAATGGTCCCTGAAGAAGGACGTGGCCCTTTTGGAGAAGAAGCTAGGACTCTGCCCAGTCTGCCTGCTCAGACCTCGTGCCCGCCCTTGGACCCTGTGGAAGACCAGAGAGGGGATGCTGGGACCCTGAGGCTGGGGTAGAGAGCTGGGCACACTGCTGGAGACCCAGTCCTGACTGCCCAATTCACTGGCTGATCCTCTCTGGTTCTCAGTTTCCCCATCTGCTCACCCCGCAGGGCTATGGTGAGAATCATCAAAAGGAAATGAAATACCAGTCAATAAACCGCCGTGGACACTAACGTCCCGGCAACTTGACAGATGACTCTCCTCCTCCGCCCATGGGACTCTGTCCCCAGCACCTCCTGGACTGGCTGAGCCCCCTGCTCCTGAGGCTGGGGTATGCCTGGCTCAGCTCTGCATCCCCAGCATCCAACACAGGCCTGGCCCACAGGCCCTGATACCCACCCTAGGGTGGGGAGTCCTCCCCGGGCACCTCCAAGACTTTGCATGACCAGGATCCAGATGTGGGGGCGCTCTGGAGAAAATGGAATCTGACCAGCACAGGGGCAGGGGCACCAGTCAGACATGTTGAGTCCCAGGACAATGTCCAGGGGGTTGGGGGGAGCTGAGGACCCTGATCTGGCAGTGCCCCTCCCCACCTGTCAGCACCTAGAAGCTCAGACAGCTCCACAGAGGAGCCGTCACAACACTGACCACCCGGCTATCTGTCCAGCAAGCCAGGCGCCTTCGCAAAGCGGCAGTGAAAGGAGACTACACAGTGCCCTGTGGCCTAGGAGGTGCCAGGCTGGGAGTCTAGGGGACTGTGCTCCAGCCCAGCGACCCCATGGATGAGCTATGTGACTTCACGTCATCCCTCCCCACCTGGGAACTTAATTTCCCAGTAAAATTTCCCAGTAAAATGAAGTGTGCAGGCGAGGGCTCTGGCATCCTGAGGCTCAGTGGCTCCTCATTCCTGAGACTGCCTGCTGCGTGCACCCTGGGAATGGGATTCCTTATGTGCAGCAGGCTGTGTGGCCCCTGGTGCCTGCTTTGCAGGGGTGAGGGGAGGAGGGGTTAAGGCAGTCGATAGGAAACGCTTCCTATGCCAAAATTTCACACAGCCAGCTCTACCCTCTGTGGCCAGAGGGCGGGGGATCCCCAAACCCAAGCCCATGGGCCC 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TCACAGCCCACTGTAGCCTCAGCCTCCGGGGCTCAAGTGATCCTCCCACCTCAGCCTCTCAATTAGCTGGGACTACAGCCATAGTGCCACCATGCCCAGCTAATTGTTAGTTTTAAATTTTTTGTAGAGATGAGGGTCTCACTATGTTGCCCAGGCTGGTCTCGACCTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGAGCTGGGATTACAGGCTTGAGCCACCATGCCTGGCATATTCCTATTTTTGAGAAGAGGTAGAAACTTCAGGGTCTATGCTTGTATCCACTTCTCTCTACTGCCCCCAAGAATAGCCATGATGTTTTTGAAGAAGGCCAAGGTGGAGGATCTGCCACCCAGACACCAGGACTCACCACACAGCGGTAGTTTTTTATGCTCTGTGGTCCGGGCACAGAGACAGCTTTCCAACCAGTGGAACAAAACACAGCCTGGAGCAGATCCAAGAGCAGAGGGATGCTTGACCCACTGCTGAGGAAGCGGAGGGAAGGACAGACTTCACAGATGGGGCTGGGAAAAATTGGCCAATCACGTGGAAAACATTAAATTGGATCTTGGATTTCACCCTCATACAAAAATCAATTCCAGGTTGATAAAAGACCTCAATGTAAAAGGCAGATCTAGAGAGCTTTCCAGCTCGACACAGGAGAATCGTGTGCTGCTTGGGGGCAGCAAAGGGGTTTATGAACGAGAAATAAAAAGCACAAACTAGGCTGGGCATGGTGGCTGATGCCTGTAATGGGAAACCAAGGCGGGAGGATCGCCTCAGCTCAGGAGTTCAAGACTAGCCTGGACAACATGGTGAAACCCCATCTCTACAAAAAATACATGTGTTGGCACATGCTAGTAGTCCCAGGCACTCAGGCGGCTGAGATGGGAGGACTGCTTGAACCCAGGAGGTCGAGGCTGCAGTAAGCCGTGTTCACAGCAATATACTCCAGCATGGGCCCCACAGCAAGACCCTGTTTCAAAAAAAAGAAAGAAAGAAAGGAAAAAATCACAAACTACAAGAAGAAAAATATTTATAAATATTATCTACCTCATTAAGAACATGGGCCACCAAAACCAAAACCAAAACAAAAAACAAAAAACAAAAACCTAGAAACACCACAGAGCAGAAAGACAAGCCACAGAGTGGGAAAAAAGATTGAAGGTCCCTGGCCTTGGACCCTAGGGAAGACCGCAGAGGGGATGCCGGGCCCCTAAGACTGGGGGACACTCACTTTCAAAATATGAAAAAATCACTCAGAAATGCTCAAAACACTCCTCTTGGAACACACCATTCATCCAGCCCCGAACGGGATGCATTGCTTAGTCCTAGGATTTGGGCTTCCCAAACAAATGTTTCCTGGAAATGTGACTTTCTCCTTCAGTCTGACTTAAATTAGTTCAAGTCTTGTAGGCCTTAAATTAAAGGTAAGACTGAAGCCCTCTGATTATAACCTAGTAGTCCGATCCTGGGAGCGAGTGCTGTCTGAAATGTGAGAAAATGTTTAGCCGTGTCATTTGAAAGGCCAGTGGGTTCCTTTTGCCTGGGCAGCAAAAACCCAGCCTCTGCCCAGGTGGTCTCAGAGAAGGGTGGCCCAGGCTCTCTCCAGGCAAGCCCCAGACCCCTGGCCGGGCAGGGCAGAGCCAGGCAGGGCAGAGCCGGCAGGGCAGAGCCGGGCAGGGCAGAGCCAGGCAGGGCAGAGCCAGGCCCACCAGGCCACGCCCCTCCTGCGCTCAGCAGGTGTCTGCATGCCCAAGTGAGAGCCACACCCCAGCCCTCTGCCTCCCTGGGAAGGGGGTTCCCTCTGCTCCCCTCAAGCGTGGGGCGCTCTTCCCCCTCCCTCAGCAGGACAGGGAGCCCTCTGTCCCCAGGGAACAGCCACAGTGGGCACAGCTGCGGCCACGGCCCCAGTGCGCCAGGGCTTACTTGGGTTTCCTGACGTCCGTCATCTTGGTGTGCTCCCCAAACTCCCGCTTCAGGAACTCCTCCAGGGGCCCCGACTCGTAGGGCCTGGAGCCCCGGAACACCTCATCCGTCATGCGAAAGTACATGCCGCGCATGTAGGCCATGGACTTACCTAGGAACAAAGGGGTCAGAGGCGGGGAGATGCAGCGGCCACACGCAGGGCTCCCGTAGAACAGCCTGCAGAGCGCCTGAACGCAGGAGGTGGCAGGAGGAAGCGGGTTTACCGAGGCCTAAGCAAACCCAAATTCTGGGCCCTTCCTTTGCAACCTCCCAGACAGACAGAGAGAAACCTCCTTCCGGCTGGACATGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTATTAAAAATACAAAAATTCGCCAGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGCAGGAGAATCGCTTGAACCCGGGAGCGGAGGTTGCAGTGAGCCAAGATGCACCACTGCACTCCAGCCTGGGCAACGGAGAGACTCAAAAACCACTGAAGCCCCACGGCTCTGCACTTCATCTTGTATTCATGATTTTGTATTATTTTCCTTAAAGAAGAGCCCCTCAAGAGTAAAAGCTTATAAAAGCTAGACCCACGTTGTTTGTCACAGAAAACAAGGAATAGCCCTGTCCTTTGAGCCTTCAGAACAGACAGGGCCAAGGGGCCGGCTGCACCTCCAGGAAGGAGAAGCTGCCCCACTTCCCCCGTGAGGCAGTGAGTTCCCCAGGGCCAGGGATGTACAAGCAGAGGGTAGCTGAAAGGAGGCCATCTGCCCACACCGGAGGATCAGCCAGGAGACCTCTCAAATCCCCTCCATGGCCCCTGGGAGTCTCAAGACCCCGGATGGGGAAGAAATGGTCCCTGAAGAAGGACGTGGCCCTTTTGGAGAAGAAGCTAGGACTCTGCCCAGTCTGCCTGCTCAGACCTCGTGCCCGCCCTTGGACCCTGTGGAAGACCAGAGAGGGGATGCTGGGACCCTGAGGCTGGGGTAGAGAGCTGGGCACACTGCTGGAGACCCAGTCCTGACTGCCCAATTCACTGGCTGATCCTCTCTGGTTCTCAGTTTCCCCATCTGCTCACCCCGCAGGGCTATGGTGAGAATCATCAAAAGGAAATGAAATACCAGTCAATAAACCGCCGTGGACACTAACGTCCCGGCAACTTGACAGATGACTCTCCTCCTCCGCCCATGGGACTCTGTCCCCAGCACCTCCTGGACTGGCTGAGCCCCCTGCTCCTGAGGCTGGGGTATGCCTGGCTCAGCTCTGCATCCCCAGCATCCAACACAGGCCTGGCCCACAGGCCCTGATACCCACCCTAGGGTGGGGAGTCCTCCCCGGGCACCTCCAAGACTTTGCATGACCAGGATCCAGATGTGGGGGCGCTCTGGAGAAAATGGAATCTGACCAGCACAGGGGCAGGGGCACCAGTCAGACATGTTGAGTCCCAGGACAATGTCCAGGGGGTTGGGGGGAGCTGAGGACCCTGATCTGGCAGTGCCCCTCCCCACCTGTCAGCACCTAGAAGCTCAGACAGCTCCACAGAGGAGCCGTCACAACACTGACCACCCGGCTATCTGTCCAGCAAGCCAGGCGCCTTCGCAAAGCGGCAGTGAAAGGAGACTACACAGTGCCCTGTGGCCTAGGAGGTGCCAGGCTGGGAGTCTAGGGGACTGTGCTCCAGCCCAGCGACCCCATGGATGAGCTATGTGACTTCACGTCATCCCTCCCCACCTGGGAACTTAATTTCCCAGTAAAATTTCCCAGTAAAATGAAGTGTGCAGGCGAGGGCTCTGGCATCCTGAGGCTCAGTGGCTCCTCATTCCTGAGACTGCCTGCTGCGTGCACCCTGGGAATGGGATTCCTTATGTGCAGCAGGCTGTGTGGCCCCTGGTGCCTGCTTTGCAGGGGTGAGGGGAGGAGGGGTTAAGGCAGTCGATAGGAAACGCTTCCTATGCCAAAATTTCACACAGCCAGCTCTACCCTCTGTGGCCAGAGGGCGGGGGATCCCCAAACCCAAGCCCATGGGCCC 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Task1_train_28810 | Located on Chromosome 22, this mutation impacts PLA2G6 (phospholipase A2 group VI). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Infantile neuroaxonal dystrophy | GGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTATTAAAAATACAAAAATTCGCCAGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGCAGGAGAATCGCTTGAACCCGGGAGCGGAGGTTGCAGTGAGCCAAGATGCACCACTGCACTCCAGCCTGGGCAACGGAGAGACTCAAAAACCACTGAAGCCCCACGGCTCTGCACTTCATCTTGTATTCATGATTTTGTATTATTTTCCTTAAAGAAGAGCCCCTCAAGAGTAAAAGCTTATAAAAGCTAGACCCACGTTGTTTGTCACAGAAAACAAGGAATAGCCCTGTCCTTTGAGCCTTCAGAACAGACAGGGCCAAGGGGCCGGCTGCACCTCCAGGAAGGAGAAGCTGCCCCACTTCCCCCGTGAGGCAGTGAGTTCCCCAGGGCCAGGGATGTACAAGCAGAGGGTAGCTGAAAGGAGGCCATCTGCCCACACCGGAGGATCAGCCAGGAGACCTCTCAAATCCCCTCCATGGCCCCTGGGAGTCTCAAGACCCCGGATGGGGAAGAAATGGTCCCTGAAGAAGGACGTGGCCCTTTTGGAGAAGAAGCTAGGACTCTGCCCAGTCTGCCTGCTCAGACCTCGTGCCCGCCCTTGGACCCTGTGGAAGACCAGAGAGGGGATGCTGGGACCCTGAGGCTGGGGTAGAGAGCTGGGCACACTGCTGGAGACCCAGTCCTGACTGCCCAATTCACTGGCTGATCCTCTCTGGTTCTCAGTTTCCCCATCTGCTCACCCCGCAGGGCTATGGTGAGAATCATCAAAAGGAAATGAAATACCAGTCAATAAACCGCCGTGGACACTAACGTCCCGGCAACTTGACAGATGACTCTCCTCCTCCGCCCATGGGACTCTGTCCCCAGCACCTCCTGGACTGGCTGAGCCCCCTGCTCCTGAGGCTGGGGTATGCCTGGCTCAGCTCTGCATCCCCAGCATCCAACACAGGCCTGGCCCACAGGCCCTGATACCCACCCTAGGGTGGGGAGTCCTCCCCGGGCACCTCCAAGACTTTGCATGACCAGGATCCAGATGTGGGGGCGCTCTGGAGAAAATGGAATCTGACCAGCACAGGGGCAGGGGCACCAGTCAGACATGTTGAGTCCCAGGACAATGTCCAGGGGGTTGGGGGGAGCTGAGGACCCTGATCTGGCAGTGCCCCTCCCCACCTGTCAGCACCTAGAAGCTCAGACAGCTCCACAGAGGAGCCGTCACAACACTGACCACCCGGCTATCTGTCCAGCAAGCCAGGCGCCTTCGCAAAGCGGCAGTGAAAGGAGACTACACAGTGCCCTGTGGCCTAGGAGGTGCCAGGCTGGGAGTCTAGGGGACTGTGCTCCAGCCCAGCGACCCCATGGATGAGCTATGTGACTTCACGTCATCCCTCCCCACCTGGGAACTTAATTTCCCAGTAAAATTTCCCAGTAAAATGAAGTGTGCAGGCGAGGGCTCTGGCATCCTGAGGCTCAGTGGCTCCTCATTCCTGAGACTGCCTGCTGCGTGCACCCTGGGAATGGGATTCCTTATGTGCAGCAGGCTGTGTGGCCCCTGGTGCCTGCTTTGCAGGGGTGAGGGGAGGAGGGGTTAAGGCAGTCGATAGGAAACGCTTCCTATGCCAAAATTTCACACAGCCAGCTCTACCCTCTGTGGCCAGAGGGCGGGGGATCCCCAAACCCAAGCCCATGGGCCCAGCCCTTCTCCTTCCAGCCTGGGACCTCAGCACCTGCAGCCCCGCCCCTGCCTCCTCAAAGTGCTTATAGCCCTCCTCTACTCCTCCACTCTCTTTTTGCAAAGCCCTGAAGACAAACTCGGCCCCTTGAGGACACAGGTCTCAGCCCCGCCTGGCCCCATCCCCAGGGGCCGCCCTCACTGTGCAGAATGGCCAGGGCCAGGATGCCTCCAGTGCTGGTGCCCGCCACCCAGTCAAACAGGTCCTTGGTGGCCACACCCGAGGCCTTCTCGATGGCGATGAGGAGCTGGATGATGATGAGGCCTTTCACTCCTCCTCCATCCAGGCACAGCAGGTGGTCGTGGCTGCAGTGGGAACAGCAGTGGGAGAGAGGAGGGTCCTGCCACAGCCCAGTACTTTACATCCACCCTCATAGCCCTTGTCCCCTGCAGCTGTGTCCTGGCAGACAGACCCAGACGGACCCGAGGAACTTCTGTCCTATGCAGGACAGCGAGGGTGGGGGTGAGGGCAGTAAAGGAACAAATGTCTAGTATTTCAGGGGCTGGAGAGTGCAACAGAGAAAGGGAAAGGAAGGTCGGGGGATAGCATCACTGACCAGGCGCCATCCCAGCAGGATCTCGGCCAGTCTCCCCAACTTGGGACACCTGATTTTGGTCAGTATCAGGCCTGATCCAAAGCAGGTGCCTGATAAAGTCTGTTGGAATTAAATAAGGCTGGGGAAGGAGGGGCGGGGACCCTACAGCCAGGCCAGGAATGGGCAGTGACAGAGTATCAGGGCCTCCACACAAGGTGGAAGAAGCAGGGGAGGAGGGGGCAGGGAGGAAGGGAGAGGTTCATGCCAGGGGCTATGGGAGGGGTGCTACCAGCATTAGCTCATGTCATTGTCCCAAACGCCTCTGAGGCAGACCCTCCCTGACATCCCTGTGCTTATTTATTTAGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATAACGCGATCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCTCAACCTCCCGAGTAGCTGGGATCACAGGTGCCCGCCACCACACCCAGCTAATTTTGTATTTTTAATAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCATGTGATCCGCCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACCGTGCCCAGCCTTATTTATTTATTTATTTATTTATAGAGACAGGGTCTCACTCTGTCACCCAGGCTGGTGTGTGGTGGTGCAATCACAGTTCACGGCAGCCTCAACCTTCTGAGCTCAAGTGATCCTCCCGAGTAGCTGGGACTACAGGCAGGAGCCACTGCGCCTACTCTCTGTGCATATTTTTGAGTGACGGAGGGAGTGTAGCTCAGAGGTTAGGTGACGGGAACCAAGTCATATGGATGCGGACTGGACCTGGACCCAGGTCTGCCGCCTCCTGAGTCACATGCTCTCCAGCGCGCCCTGACACGTCTCCCCACATCCTGCCTGTCCTCATTGGCCATGCCCTGGGGGAATGCCTTTGTGGTTGGTTCAGTCTGGAACCTTCCTCTGATCTTCTCATCTTCCCATCTCAGCTTGATGAAGCTGAGAGAAGCCTGCCCTGATGCCATCGAGACCCTCCCTCACAGCCCGCCTGCTGCTCCACCTGCTTCCTGGTGGAGGCTGCTTCCATTCCATTCGCAATCTTTCTTTTACTCTCTCCTGCGCTGACCTGGAAGCTCCACCAGGGCAGAAGCCGCCTCTGCTCTGGGCAGCGCTGTGTGTCAAGGGGATGCAGGAGGTGCCCAAGAGGGCTGATAAATGGAGGAGGCCCGGGTCCCACCTCTAGGGGTCTTTTCCTGGACCAGGTACCCAGCCCCACAGCAAGCCTAGAGGTGGCAGGGGAGAGACTACACTGTTGCTGGAGGCCAAAGCAAACTCCCGAAGATGCGGGGCTGGCGACAGAGATCAACCCAGAGGGCGCAGGGCTCTGTAGCTTGGAAGGCCCAAGTGGGGAGCTACCGAGGGGTCTCCTGACTCTTGCCTCAGCCCCGCTCCAGGCAGGGTTCTGAGGCTCCAGAATCTGGGGAATCTGCTTTTCCTCCCTTGGGAAATGTGGGTCCCCCCTTCAGGTGCAGCTGCCTCACCTCAGCCCCTGCACAGGTGTGTGTATGTACATGCATGTGTGTACATGTGTGTGCATGTGTGTGGGTGTCCATGTGCATGCATGCATGTGTATGTGTGCGCATGTGTATGTGTGTGCATGCACGTGTGTTTGCATGTGTGCATG 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GGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTATTAAAAATACAAAAATTCGCCAGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGCAGGAGAATCGCTTGAACCCGGGAGCGGAGGTTGCAGTGAGCCAAGATGCACCACTGCACTCCAGCCTGGGCAACGGAGAGACTCAAAAACCACTGAAGCCCCACGGCTCTGCACTTCATCTTGTATTCATGATTTTGTATTATTTTCCTTAAAGAAGAGCCCCTCAAGAGTAAAAGCTTATAAAAGCTAGACCCACGTTGTTTGTCACAGAAAACAAGGAATAGCCCTGTCCTTTGAGCCTTCAGAACAGACAGGGCCAAGGGGCCGGCTGCACCTCCAGGAAGGAGAAGCTGCCCCACTTCCCCCGTGAGGCAGTGAGTTCCCCAGGGCCAGGGATGTACAAGCAGAGGGTAGCTGAAAGGAGGCCATCTGCCCACACCGGAGGATCAGCCAGGAGACCTCTCAAATCCCCTCCATGGCCCCTGGGAGTCTCAAGACCCCGGATGGGGAAGAAATGGTCCCTGAAGAAGGACGTGGCCCTTTTGGAGAAGAAGCTAGGACTCTGCCCAGTCTGCCTGCTCAGACCTCGTGCCCGCCCTTGGACCCTGTGGAAGACCAGAGAGGGGATGCTGGGACCCTGAGGCTGGGGTAGAGAGCTGGGCACACTGCTGGAGACCCAGTCCTGACTGCCCAATTCACTGGCTGATCCTCTCTGGTTCTCAGTTTCCCCATCTGCTCACCCCGCAGGGCTATGGTGAGAATCATCAAAAGGAAATGAAATACCAGTCAATAAACCGCCGTGGACACTAACGTCCCGGCAACTTGACAGATGACTCTCCTCCTCCGCCCATGGGACTCTGTCCCCAGCACCTCCTGGACTGGCTGAGCCCCCTGCTCCTGAGGCTGGGGTATGCCTGGCTCAGCTCTGCATCCCCAGCATCCAACACAGGCCTGGCCCACAGGCCCTGATACCCACCCTAGGGTGGGGAGTCCTCCCCGGGCACCTCCAAGACTTTGCATGACCAGGATCCAGATGTGGGGGCGCTCTGGAGAAAATGGAATCTGACCAGCACAGGGGCAGGGGCACCAGTCAGACATGTTGAGTCCCAGGACAATGTCCAGGGGGTTGGGGGGAGCTGAGGACCCTGATCTGGCAGTGCCCCTCCCCACCTGTCAGCACCTAGAAGCTCAGACAGCTCCACAGAGGAGCCGTCACAACACTGACCACCCGGCTATCTGTCCAGCAAGCCAGGCGCCTTCGCAAAGCGGCAGTGAAAGGAGACTACACAGTGCCCTGTGGCCTAGGAGGTGCCAGGCTGGGAGTCTAGGGGACTGTGCTCCAGCCCAGCGACCCCATGGATGAGCTATGTGACTTCACGTCATCCCTCCCCACCTGGGAACTTAATTTCCCAGTAAAATTTCCCAGTAAAATGAAGTGTGCAGGCGAGGGCTCTGGCATCCTGAGGCTCAGTGGCTCCTCATTCCTGAGACTGCCTGCTGCGTGCACCCTGGGAATGGGATTCCTTATGTGCAGCAGGCTGTGTGGCCCCTGGTGCCTGCTTTGCAGGGGTGAGGGGAGGAGGGGTTAAGGCAGTCGATAGGAAACGCTTCCTATGCCAAAATTTCACACAGCCAGCTCTACCCTCTGTGGCCAGAGGGCGGGGGATCCCCAAACCCAAGCCCATGGGCCCAGCCCTTCTCCTTCCAGCCTGGGACCTCAGCACCTGCAGCCCCGCCCCTGCCTCCTCAAAGTGCTTATAGCCCTCCTCTACTCCTCCACTCTCTTTTTGCAAAGCCCTGAAGACAAACTCGGCCCCTTGAGGACACAGGTCTCAGCCCCGCCTGGCCCCATCCCCAGGGGCCGCCCTCACTGTGCAGAATGGCCAGGGCCAGGATGCCTCCAGTGCTGGTGCCCGCCACCCAGTCAAACAGGTCCTTGGTGGCCACACCCGAGGCCTTCTTGATGGCGATGAGGAGCTGGATGATGATGAGGCCTTTCACTCCTCCTCCATCCAGGCACAGCAGGTGGTCGTGGCTGCAGTGGGAACAGCAGTGGGAGAGAGGAGGGTCCTGCCACAGCCCAGTACTTTACATCCACCCTCATAGCCCTTGTCCCCTGCAGCTGTGTCCTGGCAGACAGACCCAGACGGACCCGAGGAACTTCTGTCCTATGCAGGACAGCGAGGGTGGGGGTGAGGGCAGTAAAGGAACAAATGTCTAGTATTTCAGGGGCTGGAGAGTGCAACAGAGAAAGGGAAAGGAAGGTCGGGGGATAGCATCACTGACCAGGCGCCATCCCAGCAGGATCTCGGCCAGTCTCCCCAACTTGGGACACCTGATTTTGGTCAGTATCAGGCCTGATCCAAAGCAGGTGCCTGATAAAGTCTGTTGGAATTAAATAAGGCTGGGGAAGGAGGGGCGGGGACCCTACAGCCAGGCCAGGAATGGGCAGTGACAGAGTATCAGGGCCTCCACACAAGGTGGAAGAAGCAGGGGAGGAGGGGGCAGGGAGGAAGGGAGAGGTTCATGCCAGGGGCTATGGGAGGGGTGCTACCAGCATTAGCTCATGTCATTGTCCCAAACGCCTCTGAGGCAGACCCTCCCTGACATCCCTGTGCTTATTTATTTAGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATAACGCGATCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCTCAACCTCCCGAGTAGCTGGGATCACAGGTGCCCGCCACCACACCCAGCTAATTTTGTATTTTTAATAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCATGTGATCCGCCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACCGTGCCCAGCCTTATTTATTTATTTATTTATTTATAGAGACAGGGTCTCACTCTGTCACCCAGGCTGGTGTGTGGTGGTGCAATCACAGTTCACGGCAGCCTCAACCTTCTGAGCTCAAGTGATCCTCCCGAGTAGCTGGGACTACAGGCAGGAGCCACTGCGCCTACTCTCTGTGCATATTTTTGAGTGACGGAGGGAGTGTAGCTCAGAGGTTAGGTGACGGGAACCAAGTCATATGGATGCGGACTGGACCTGGACCCAGGTCTGCCGCCTCCTGAGTCACATGCTCTCCAGCGCGCCCTGACACGTCTCCCCACATCCTGCCTGTCCTCATTGGCCATGCCCTGGGGGAATGCCTTTGTGGTTGGTTCAGTCTGGAACCTTCCTCTGATCTTCTCATCTTCCCATCTCAGCTTGATGAAGCTGAGAGAAGCCTGCCCTGATGCCATCGAGACCCTCCCTCACAGCCCGCCTGCTGCTCCACCTGCTTCCTGGTGGAGGCTGCTTCCATTCCATTCGCAATCTTTCTTTTACTCTCTCCTGCGCTGACCTGGAAGCTCCACCAGGGCAGAAGCCGCCTCTGCTCTGGGCAGCGCTGTGTGTCAAGGGGATGCAGGAGGTGCCCAAGAGGGCTGATAAATGGAGGAGGCCCGGGTCCCACCTCTAGGGGTCTTTTCCTGGACCAGGTACCCAGCCCCACAGCAAGCCTAGAGGTGGCAGGGGAGAGACTACACTGTTGCTGGAGGCCAAAGCAAACTCCCGAAGATGCGGGGCTGGCGACAGAGATCAACCCAGAGGGCGCAGGGCTCTGTAGCTTGGAAGGCCCAAGTGGGGAGCTACCGAGGGGTCTCCTGACTCTTGCCTCAGCCCCGCTCCAGGCAGGGTTCTGAGGCTCCAGAATCTGGGGAATCTGCTTTTCCTCCCTTGGGAAATGTGGGTCCCCCCTTCAGGTGCAGCTGCCTCACCTCAGCCCCTGCACAGGTGTGTGTATGTACATGCATGTGTGTACATGTGTGTGCATGTGTGTGGGTGTCCATGTGCATGCATGCATGTGTATGTGTGCGCATGTGTATGTGTGTGCATGCACGTGTGTTTGCATGTGTGCATG 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Task1_train_28811 | Mutation context: Chromosome 22, Gene PLA2G6 (phospholipase A2 group VI). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Neurodegeneration with brain iron accumulation 2B | GGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTATTAAAAATACAAAAATTCGCCAGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGCAGGAGAATCGCTTGAACCCGGGAGCGGAGGTTGCAGTGAGCCAAGATGCACCACTGCACTCCAGCCTGGGCAACGGAGAGACTCAAAAACCACTGAAGCCCCACGGCTCTGCACTTCATCTTGTATTCATGATTTTGTATTATTTTCCTTAAAGAAGAGCCCCTCAAGAGTAAAAGCTTATAAAAGCTAGACCCACGTTGTTTGTCACAGAAAACAAGGAATAGCCCTGTCCTTTGAGCCTTCAGAACAGACAGGGCCAAGGGGCCGGCTGCACCTCCAGGAAGGAGAAGCTGCCCCACTTCCCCCGTGAGGCAGTGAGTTCCCCAGGGCCAGGGATGTACAAGCAGAGGGTAGCTGAAAGGAGGCCATCTGCCCACACCGGAGGATCAGCCAGGAGACCTCTCAAATCCCCTCCATGGCCCCTGGGAGTCTCAAGACCCCGGATGGGGAAGAAATGGTCCCTGAAGAAGGACGTGGCCCTTTTGGAGAAGAAGCTAGGACTCTGCCCAGTCTGCCTGCTCAGACCTCGTGCCCGCCCTTGGACCCTGTGGAAGACCAGAGAGGGGATGCTGGGACCCTGAGGCTGGGGTAGAGAGCTGGGCACACTGCTGGAGACCCAGTCCTGACTGCCCAATTCACTGGCTGATCCTCTCTGGTTCTCAGTTTCCCCATCTGCTCACCCCGCAGGGCTATGGTGAGAATCATCAAAAGGAAATGAAATACCAGTCAATAAACCGCCGTGGACACTAACGTCCCGGCAACTTGACAGATGACTCTCCTCCTCCGCCCATGGGACTCTGTCCCCAGCACCTCCTGGACTGGCTGAGCCCCCTGCTCCTGAGGCTGGGGTATGCCTGGCTCAGCTCTGCATCCCCAGCATCCAACACAGGCCTGGCCCACAGGCCCTGATACCCACCCTAGGGTGGGGAGTCCTCCCCGGGCACCTCCAAGACTTTGCATGACCAGGATCCAGATGTGGGGGCGCTCTGGAGAAAATGGAATCTGACCAGCACAGGGGCAGGGGCACCAGTCAGACATGTTGAGTCCCAGGACAATGTCCAGGGGGTTGGGGGGAGCTGAGGACCCTGATCTGGCAGTGCCCCTCCCCACCTGTCAGCACCTAGAAGCTCAGACAGCTCCACAGAGGAGCCGTCACAACACTGACCACCCGGCTATCTGTCCAGCAAGCCAGGCGCCTTCGCAAAGCGGCAGTGAAAGGAGACTACACAGTGCCCTGTGGCCTAGGAGGTGCCAGGCTGGGAGTCTAGGGGACTGTGCTCCAGCCCAGCGACCCCATGGATGAGCTATGTGACTTCACGTCATCCCTCCCCACCTGGGAACTTAATTTCCCAGTAAAATTTCCCAGTAAAATGAAGTGTGCAGGCGAGGGCTCTGGCATCCTGAGGCTCAGTGGCTCCTCATTCCTGAGACTGCCTGCTGCGTGCACCCTGGGAATGGGATTCCTTATGTGCAGCAGGCTGTGTGGCCCCTGGTGCCTGCTTTGCAGGGGTGAGGGGAGGAGGGGTTAAGGCAGTCGATAGGAAACGCTTCCTATGCCAAAATTTCACACAGCCAGCTCTACCCTCTGTGGCCAGAGGGCGGGGGATCCCCAAACCCAAGCCCATGGGCCCAGCCCTTCTCCTTCCAGCCTGGGACCTCAGCACCTGCAGCCCCGCCCCTGCCTCCTCAAAGTGCTTATAGCCCTCCTCTACTCCTCCACTCTCTTTTTGCAAAGCCCTGAAGACAAACTCGGCCCCTTGAGGACACAGGTCTCAGCCCCGCCTGGCCCCATCCCCAGGGGCCGCCCTCACTGTGCAGAATGGCCAGGGCCAGGATGCCTCCAGTGCTGGTGCCCGCCACCCAGTCAAACAGGTCCTTGGTGGCCACACCCGAGGCCTTCTCGATGGCGATGAGGAGCTGGATGATGATGAGGCCTTTCACTCCTCCTCCATCCAGGCACAGCAGGTGGTCGTGGCTGCAGTGGGAACAGCAGTGGGAGAGAGGAGGGTCCTGCCACAGCCCAGTACTTTACATCCACCCTCATAGCCCTTGTCCCCTGCAGCTGTGTCCTGGCAGACAGACCCAGACGGACCCGAGGAACTTCTGTCCTATGCAGGACAGCGAGGGTGGGGGTGAGGGCAGTAAAGGAACAAATGTCTAGTATTTCAGGGGCTGGAGAGTGCAACAGAGAAAGGGAAAGGAAGGTCGGGGGATAGCATCACTGACCAGGCGCCATCCCAGCAGGATCTCGGCCAGTCTCCCCAACTTGGGACACCTGATTTTGGTCAGTATCAGGCCTGATCCAAAGCAGGTGCCTGATAAAGTCTGTTGGAATTAAATAAGGCTGGGGAAGGAGGGGCGGGGACCCTACAGCCAGGCCAGGAATGGGCAGTGACAGAGTATCAGGGCCTCCACACAAGGTGGAAGAAGCAGGGGAGGAGGGGGCAGGGAGGAAGGGAGAGGTTCATGCCAGGGGCTATGGGAGGGGTGCTACCAGCATTAGCTCATGTCATTGTCCCAAACGCCTCTGAGGCAGACCCTCCCTGACATCCCTGTGCTTATTTATTTAGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATAACGCGATCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCTCAACCTCCCGAGTAGCTGGGATCACAGGTGCCCGCCACCACACCCAGCTAATTTTGTATTTTTAATAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCATGTGATCCGCCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACCGTGCCCAGCCTTATTTATTTATTTATTTATTTATAGAGACAGGGTCTCACTCTGTCACCCAGGCTGGTGTGTGGTGGTGCAATCACAGTTCACGGCAGCCTCAACCTTCTGAGCTCAAGTGATCCTCCCGAGTAGCTGGGACTACAGGCAGGAGCCACTGCGCCTACTCTCTGTGCATATTTTTGAGTGACGGAGGGAGTGTAGCTCAGAGGTTAGGTGACGGGAACCAAGTCATATGGATGCGGACTGGACCTGGACCCAGGTCTGCCGCCTCCTGAGTCACATGCTCTCCAGCGCGCCCTGACACGTCTCCCCACATCCTGCCTGTCCTCATTGGCCATGCCCTGGGGGAATGCCTTTGTGGTTGGTTCAGTCTGGAACCTTCCTCTGATCTTCTCATCTTCCCATCTCAGCTTGATGAAGCTGAGAGAAGCCTGCCCTGATGCCATCGAGACCCTCCCTCACAGCCCGCCTGCTGCTCCACCTGCTTCCTGGTGGAGGCTGCTTCCATTCCATTCGCAATCTTTCTTTTACTCTCTCCTGCGCTGACCTGGAAGCTCCACCAGGGCAGAAGCCGCCTCTGCTCTGGGCAGCGCTGTGTGTCAAGGGGATGCAGGAGGTGCCCAAGAGGGCTGATAAATGGAGGAGGCCCGGGTCCCACCTCTAGGGGTCTTTTCCTGGACCAGGTACCCAGCCCCACAGCAAGCCTAGAGGTGGCAGGGGAGAGACTACACTGTTGCTGGAGGCCAAAGCAAACTCCCGAAGATGCGGGGCTGGCGACAGAGATCAACCCAGAGGGCGCAGGGCTCTGTAGCTTGGAAGGCCCAAGTGGGGAGCTACCGAGGGGTCTCCTGACTCTTGCCTCAGCCCCGCTCCAGGCAGGGTTCTGAGGCTCCAGAATCTGGGGAATCTGCTTTTCCTCCCTTGGGAAATGTGGGTCCCCCCTTCAGGTGCAGCTGCCTCACCTCAGCCCCTGCACAGGTGTGTGTATGTACATGCATGTGTGTACATGTGTGTGCATGTGTGTGGGTGTCCATGTGCATGCATGCATGTGTATGTGTGCGCATGTGTATGTGTGTGCATGCACGTGTGTTTGCATGTGTGCATG 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GGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTATTAAAAATACAAAAATTCGCCAGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGCAGGAGAATCGCTTGAACCCGGGAGCGGAGGTTGCAGTGAGCCAAGATGCACCACTGCACTCCAGCCTGGGCAACGGAGAGACTCAAAAACCACTGAAGCCCCACGGCTCTGCACTTCATCTTGTATTCATGATTTTGTATTATTTTCCTTAAAGAAGAGCCCCTCAAGAGTAAAAGCTTATAAAAGCTAGACCCACGTTGTTTGTCACAGAAAACAAGGAATAGCCCTGTCCTTTGAGCCTTCAGAACAGACAGGGCCAAGGGGCCGGCTGCACCTCCAGGAAGGAGAAGCTGCCCCACTTCCCCCGTGAGGCAGTGAGTTCCCCAGGGCCAGGGATGTACAAGCAGAGGGTAGCTGAAAGGAGGCCATCTGCCCACACCGGAGGATCAGCCAGGAGACCTCTCAAATCCCCTCCATGGCCCCTGGGAGTCTCAAGACCCCGGATGGGGAAGAAATGGTCCCTGAAGAAGGACGTGGCCCTTTTGGAGAAGAAGCTAGGACTCTGCCCAGTCTGCCTGCTCAGACCTCGTGCCCGCCCTTGGACCCTGTGGAAGACCAGAGAGGGGATGCTGGGACCCTGAGGCTGGGGTAGAGAGCTGGGCACACTGCTGGAGACCCAGTCCTGACTGCCCAATTCACTGGCTGATCCTCTCTGGTTCTCAGTTTCCCCATCTGCTCACCCCGCAGGGCTATGGTGAGAATCATCAAAAGGAAATGAAATACCAGTCAATAAACCGCCGTGGACACTAACGTCCCGGCAACTTGACAGATGACTCTCCTCCTCCGCCCATGGGACTCTGTCCCCAGCACCTCCTGGACTGGCTGAGCCCCCTGCTCCTGAGGCTGGGGTATGCCTGGCTCAGCTCTGCATCCCCAGCATCCAACACAGGCCTGGCCCACAGGCCCTGATACCCACCCTAGGGTGGGGAGTCCTCCCCGGGCACCTCCAAGACTTTGCATGACCAGGATCCAGATGTGGGGGCGCTCTGGAGAAAATGGAATCTGACCAGCACAGGGGCAGGGGCACCAGTCAGACATGTTGAGTCCCAGGACAATGTCCAGGGGGTTGGGGGGAGCTGAGGACCCTGATCTGGCAGTGCCCCTCCCCACCTGTCAGCACCTAGAAGCTCAGACAGCTCCACAGAGGAGCCGTCACAACACTGACCACCCGGCTATCTGTCCAGCAAGCCAGGCGCCTTCGCAAAGCGGCAGTGAAAGGAGACTACACAGTGCCCTGTGGCCTAGGAGGTGCCAGGCTGGGAGTCTAGGGGACTGTGCTCCAGCCCAGCGACCCCATGGATGAGCTATGTGACTTCACGTCATCCCTCCCCACCTGGGAACTTAATTTCCCAGTAAAATTTCCCAGTAAAATGAAGTGTGCAGGCGAGGGCTCTGGCATCCTGAGGCTCAGTGGCTCCTCATTCCTGAGACTGCCTGCTGCGTGCACCCTGGGAATGGGATTCCTTATGTGCAGCAGGCTGTGTGGCCCCTGGTGCCTGCTTTGCAGGGGTGAGGGGAGGAGGGGTTAAGGCAGTCGATAGGAAACGCTTCCTATGCCAAAATTTCACACAGCCAGCTCTACCCTCTGTGGCCAGAGGGCGGGGGATCCCCAAACCCAAGCCCATGGGCCCAGCCCTTCTCCTTCCAGCCTGGGACCTCAGCACCTGCAGCCCCGCCCCTGCCTCCTCAAAGTGCTTATAGCCCTCCTCTACTCCTCCACTCTCTTTTTGCAAAGCCCTGAAGACAAACTCGGCCCCTTGAGGACACAGGTCTCAGCCCCGCCTGGCCCCATCCCCAGGGGCCGCCCTCACTGTGCAGAATGGCCAGGGCCAGGATGCCTCCAGTGCTGGTGCCCGCCACCCAGTCAAACAGGTCCTTGGTGGCCACACCCGAGGCCTTCTTGATGGCGATGAGGAGCTGGATGATGATGAGGCCTTTCACTCCTCCTCCATCCAGGCACAGCAGGTGGTCGTGGCTGCAGTGGGAACAGCAGTGGGAGAGAGGAGGGTCCTGCCACAGCCCAGTACTTTACATCCACCCTCATAGCCCTTGTCCCCTGCAGCTGTGTCCTGGCAGACAGACCCAGACGGACCCGAGGAACTTCTGTCCTATGCAGGACAGCGAGGGTGGGGGTGAGGGCAGTAAAGGAACAAATGTCTAGTATTTCAGGGGCTGGAGAGTGCAACAGAGAAAGGGAAAGGAAGGTCGGGGGATAGCATCACTGACCAGGCGCCATCCCAGCAGGATCTCGGCCAGTCTCCCCAACTTGGGACACCTGATTTTGGTCAGTATCAGGCCTGATCCAAAGCAGGTGCCTGATAAAGTCTGTTGGAATTAAATAAGGCTGGGGAAGGAGGGGCGGGGACCCTACAGCCAGGCCAGGAATGGGCAGTGACAGAGTATCAGGGCCTCCACACAAGGTGGAAGAAGCAGGGGAGGAGGGGGCAGGGAGGAAGGGAGAGGTTCATGCCAGGGGCTATGGGAGGGGTGCTACCAGCATTAGCTCATGTCATTGTCCCAAACGCCTCTGAGGCAGACCCTCCCTGACATCCCTGTGCTTATTTATTTAGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATAACGCGATCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCTCAACCTCCCGAGTAGCTGGGATCACAGGTGCCCGCCACCACACCCAGCTAATTTTGTATTTTTAATAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCATGTGATCCGCCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACCGTGCCCAGCCTTATTTATTTATTTATTTATTTATAGAGACAGGGTCTCACTCTGTCACCCAGGCTGGTGTGTGGTGGTGCAATCACAGTTCACGGCAGCCTCAACCTTCTGAGCTCAAGTGATCCTCCCGAGTAGCTGGGACTACAGGCAGGAGCCACTGCGCCTACTCTCTGTGCATATTTTTGAGTGACGGAGGGAGTGTAGCTCAGAGGTTAGGTGACGGGAACCAAGTCATATGGATGCGGACTGGACCTGGACCCAGGTCTGCCGCCTCCTGAGTCACATGCTCTCCAGCGCGCCCTGACACGTCTCCCCACATCCTGCCTGTCCTCATTGGCCATGCCCTGGGGGAATGCCTTTGTGGTTGGTTCAGTCTGGAACCTTCCTCTGATCTTCTCATCTTCCCATCTCAGCTTGATGAAGCTGAGAGAAGCCTGCCCTGATGCCATCGAGACCCTCCCTCACAGCCCGCCTGCTGCTCCACCTGCTTCCTGGTGGAGGCTGCTTCCATTCCATTCGCAATCTTTCTTTTACTCTCTCCTGCGCTGACCTGGAAGCTCCACCAGGGCAGAAGCCGCCTCTGCTCTGGGCAGCGCTGTGTGTCAAGGGGATGCAGGAGGTGCCCAAGAGGGCTGATAAATGGAGGAGGCCCGGGTCCCACCTCTAGGGGTCTTTTCCTGGACCAGGTACCCAGCCCCACAGCAAGCCTAGAGGTGGCAGGGGAGAGACTACACTGTTGCTGGAGGCCAAAGCAAACTCCCGAAGATGCGGGGCTGGCGACAGAGATCAACCCAGAGGGCGCAGGGCTCTGTAGCTTGGAAGGCCCAAGTGGGGAGCTACCGAGGGGTCTCCTGACTCTTGCCTCAGCCCCGCTCCAGGCAGGGTTCTGAGGCTCCAGAATCTGGGGAATCTGCTTTTCCTCCCTTGGGAAATGTGGGTCCCCCCTTCAGGTGCAGCTGCCTCACCTCAGCCCCTGCACAGGTGTGTGTATGTACATGCATGTGTGTACATGTGTGTGCATGTGTGTGGGTGTCCATGTGCATGCATGCATGTGTATGTGTGCGCATGTGTATGTGTGTGCATGCACGTGTGTTTGCATGTGTGCATG 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Task1_train_28812 | This mutation occurs in PLA2G6 (phospholipase A2 group VI) on Chromosome 22. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Autosomal recessive Parkinson disease 14 | GGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTATTAAAAATACAAAAATTCGCCAGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGCAGGAGAATCGCTTGAACCCGGGAGCGGAGGTTGCAGTGAGCCAAGATGCACCACTGCACTCCAGCCTGGGCAACGGAGAGACTCAAAAACCACTGAAGCCCCACGGCTCTGCACTTCATCTTGTATTCATGATTTTGTATTATTTTCCTTAAAGAAGAGCCCCTCAAGAGTAAAAGCTTATAAAAGCTAGACCCACGTTGTTTGTCACAGAAAACAAGGAATAGCCCTGTCCTTTGAGCCTTCAGAACAGACAGGGCCAAGGGGCCGGCTGCACCTCCAGGAAGGAGAAGCTGCCCCACTTCCCCCGTGAGGCAGTGAGTTCCCCAGGGCCAGGGATGTACAAGCAGAGGGTAGCTGAAAGGAGGCCATCTGCCCACACCGGAGGATCAGCCAGGAGACCTCTCAAATCCCCTCCATGGCCCCTGGGAGTCTCAAGACCCCGGATGGGGAAGAAATGGTCCCTGAAGAAGGACGTGGCCCTTTTGGAGAAGAAGCTAGGACTCTGCCCAGTCTGCCTGCTCAGACCTCGTGCCCGCCCTTGGACCCTGTGGAAGACCAGAGAGGGGATGCTGGGACCCTGAGGCTGGGGTAGAGAGCTGGGCACACTGCTGGAGACCCAGTCCTGACTGCCCAATTCACTGGCTGATCCTCTCTGGTTCTCAGTTTCCCCATCTGCTCACCCCGCAGGGCTATGGTGAGAATCATCAAAAGGAAATGAAATACCAGTCAATAAACCGCCGTGGACACTAACGTCCCGGCAACTTGACAGATGACTCTCCTCCTCCGCCCATGGGACTCTGTCCCCAGCACCTCCTGGACTGGCTGAGCCCCCTGCTCCTGAGGCTGGGGTATGCCTGGCTCAGCTCTGCATCCCCAGCATCCAACACAGGCCTGGCCCACAGGCCCTGATACCCACCCTAGGGTGGGGAGTCCTCCCCGGGCACCTCCAAGACTTTGCATGACCAGGATCCAGATGTGGGGGCGCTCTGGAGAAAATGGAATCTGACCAGCACAGGGGCAGGGGCACCAGTCAGACATGTTGAGTCCCAGGACAATGTCCAGGGGGTTGGGGGGAGCTGAGGACCCTGATCTGGCAGTGCCCCTCCCCACCTGTCAGCACCTAGAAGCTCAGACAGCTCCACAGAGGAGCCGTCACAACACTGACCACCCGGCTATCTGTCCAGCAAGCCAGGCGCCTTCGCAAAGCGGCAGTGAAAGGAGACTACACAGTGCCCTGTGGCCTAGGAGGTGCCAGGCTGGGAGTCTAGGGGACTGTGCTCCAGCCCAGCGACCCCATGGATGAGCTATGTGACTTCACGTCATCCCTCCCCACCTGGGAACTTAATTTCCCAGTAAAATTTCCCAGTAAAATGAAGTGTGCAGGCGAGGGCTCTGGCATCCTGAGGCTCAGTGGCTCCTCATTCCTGAGACTGCCTGCTGCGTGCACCCTGGGAATGGGATTCCTTATGTGCAGCAGGCTGTGTGGCCCCTGGTGCCTGCTTTGCAGGGGTGAGGGGAGGAGGGGTTAAGGCAGTCGATAGGAAACGCTTCCTATGCCAAAATTTCACACAGCCAGCTCTACCCTCTGTGGCCAGAGGGCGGGGGATCCCCAAACCCAAGCCCATGGGCCCAGCCCTTCTCCTTCCAGCCTGGGACCTCAGCACCTGCAGCCCCGCCCCTGCCTCCTCAAAGTGCTTATAGCCCTCCTCTACTCCTCCACTCTCTTTTTGCAAAGCCCTGAAGACAAACTCGGCCCCTTGAGGACACAGGTCTCAGCCCCGCCTGGCCCCATCCCCAGGGGCCGCCCTCACTGTGCAGAATGGCCAGGGCCAGGATGCCTCCAGTGCTGGTGCCCGCCACCCAGTCAAACAGGTCCTTGGTGGCCACACCCGAGGCCTTCTCGATGGCGATGAGGAGCTGGATGATGATGAGGCCTTTCACTCCTCCTCCATCCAGGCACAGCAGGTGGTCGTGGCTGCAGTGGGAACAGCAGTGGGAGAGAGGAGGGTCCTGCCACAGCCCAGTACTTTACATCCACCCTCATAGCCCTTGTCCCCTGCAGCTGTGTCCTGGCAGACAGACCCAGACGGACCCGAGGAACTTCTGTCCTATGCAGGACAGCGAGGGTGGGGGTGAGGGCAGTAAAGGAACAAATGTCTAGTATTTCAGGGGCTGGAGAGTGCAACAGAGAAAGGGAAAGGAAGGTCGGGGGATAGCATCACTGACCAGGCGCCATCCCAGCAGGATCTCGGCCAGTCTCCCCAACTTGGGACACCTGATTTTGGTCAGTATCAGGCCTGATCCAAAGCAGGTGCCTGATAAAGTCTGTTGGAATTAAATAAGGCTGGGGAAGGAGGGGCGGGGACCCTACAGCCAGGCCAGGAATGGGCAGTGACAGAGTATCAGGGCCTCCACACAAGGTGGAAGAAGCAGGGGAGGAGGGGGCAGGGAGGAAGGGAGAGGTTCATGCCAGGGGCTATGGGAGGGGTGCTACCAGCATTAGCTCATGTCATTGTCCCAAACGCCTCTGAGGCAGACCCTCCCTGACATCCCTGTGCTTATTTATTTAGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATAACGCGATCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCTCAACCTCCCGAGTAGCTGGGATCACAGGTGCCCGCCACCACACCCAGCTAATTTTGTATTTTTAATAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCATGTGATCCGCCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACCGTGCCCAGCCTTATTTATTTATTTATTTATTTATAGAGACAGGGTCTCACTCTGTCACCCAGGCTGGTGTGTGGTGGTGCAATCACAGTTCACGGCAGCCTCAACCTTCTGAGCTCAAGTGATCCTCCCGAGTAGCTGGGACTACAGGCAGGAGCCACTGCGCCTACTCTCTGTGCATATTTTTGAGTGACGGAGGGAGTGTAGCTCAGAGGTTAGGTGACGGGAACCAAGTCATATGGATGCGGACTGGACCTGGACCCAGGTCTGCCGCCTCCTGAGTCACATGCTCTCCAGCGCGCCCTGACACGTCTCCCCACATCCTGCCTGTCCTCATTGGCCATGCCCTGGGGGAATGCCTTTGTGGTTGGTTCAGTCTGGAACCTTCCTCTGATCTTCTCATCTTCCCATCTCAGCTTGATGAAGCTGAGAGAAGCCTGCCCTGATGCCATCGAGACCCTCCCTCACAGCCCGCCTGCTGCTCCACCTGCTTCCTGGTGGAGGCTGCTTCCATTCCATTCGCAATCTTTCTTTTACTCTCTCCTGCGCTGACCTGGAAGCTCCACCAGGGCAGAAGCCGCCTCTGCTCTGGGCAGCGCTGTGTGTCAAGGGGATGCAGGAGGTGCCCAAGAGGGCTGATAAATGGAGGAGGCCCGGGTCCCACCTCTAGGGGTCTTTTCCTGGACCAGGTACCCAGCCCCACAGCAAGCCTAGAGGTGGCAGGGGAGAGACTACACTGTTGCTGGAGGCCAAAGCAAACTCCCGAAGATGCGGGGCTGGCGACAGAGATCAACCCAGAGGGCGCAGGGCTCTGTAGCTTGGAAGGCCCAAGTGGGGAGCTACCGAGGGGTCTCCTGACTCTTGCCTCAGCCCCGCTCCAGGCAGGGTTCTGAGGCTCCAGAATCTGGGGAATCTGCTTTTCCTCCCTTGGGAAATGTGGGTCCCCCCTTCAGGTGCAGCTGCCTCACCTCAGCCCCTGCACAGGTGTGTGTATGTACATGCATGTGTGTACATGTGTGTGCATGTGTGTGGGTGTCCATGTGCATGCATGCATGTGTATGTGTGCGCATGTGTATGTGTGTGCATGCACGTGTGTTTGCATGTGTGCATG 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GGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTATTAAAAATACAAAAATTCGCCAGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGCAGGAGAATCGCTTGAACCCGGGAGCGGAGGTTGCAGTGAGCCAAGATGCACCACTGCACTCCAGCCTGGGCAACGGAGAGACTCAAAAACCACTGAAGCCCCACGGCTCTGCACTTCATCTTGTATTCATGATTTTGTATTATTTTCCTTAAAGAAGAGCCCCTCAAGAGTAAAAGCTTATAAAAGCTAGACCCACGTTGTTTGTCACAGAAAACAAGGAATAGCCCTGTCCTTTGAGCCTTCAGAACAGACAGGGCCAAGGGGCCGGCTGCACCTCCAGGAAGGAGAAGCTGCCCCACTTCCCCCGTGAGGCAGTGAGTTCCCCAGGGCCAGGGATGTACAAGCAGAGGGTAGCTGAAAGGAGGCCATCTGCCCACACCGGAGGATCAGCCAGGAGACCTCTCAAATCCCCTCCATGGCCCCTGGGAGTCTCAAGACCCCGGATGGGGAAGAAATGGTCCCTGAAGAAGGACGTGGCCCTTTTGGAGAAGAAGCTAGGACTCTGCCCAGTCTGCCTGCTCAGACCTCGTGCCCGCCCTTGGACCCTGTGGAAGACCAGAGAGGGGATGCTGGGACCCTGAGGCTGGGGTAGAGAGCTGGGCACACTGCTGGAGACCCAGTCCTGACTGCCCAATTCACTGGCTGATCCTCTCTGGTTCTCAGTTTCCCCATCTGCTCACCCCGCAGGGCTATGGTGAGAATCATCAAAAGGAAATGAAATACCAGTCAATAAACCGCCGTGGACACTAACGTCCCGGCAACTTGACAGATGACTCTCCTCCTCCGCCCATGGGACTCTGTCCCCAGCACCTCCTGGACTGGCTGAGCCCCCTGCTCCTGAGGCTGGGGTATGCCTGGCTCAGCTCTGCATCCCCAGCATCCAACACAGGCCTGGCCCACAGGCCCTGATACCCACCCTAGGGTGGGGAGTCCTCCCCGGGCACCTCCAAGACTTTGCATGACCAGGATCCAGATGTGGGGGCGCTCTGGAGAAAATGGAATCTGACCAGCACAGGGGCAGGGGCACCAGTCAGACATGTTGAGTCCCAGGACAATGTCCAGGGGGTTGGGGGGAGCTGAGGACCCTGATCTGGCAGTGCCCCTCCCCACCTGTCAGCACCTAGAAGCTCAGACAGCTCCACAGAGGAGCCGTCACAACACTGACCACCCGGCTATCTGTCCAGCAAGCCAGGCGCCTTCGCAAAGCGGCAGTGAAAGGAGACTACACAGTGCCCTGTGGCCTAGGAGGTGCCAGGCTGGGAGTCTAGGGGACTGTGCTCCAGCCCAGCGACCCCATGGATGAGCTATGTGACTTCACGTCATCCCTCCCCACCTGGGAACTTAATTTCCCAGTAAAATTTCCCAGTAAAATGAAGTGTGCAGGCGAGGGCTCTGGCATCCTGAGGCTCAGTGGCTCCTCATTCCTGAGACTGCCTGCTGCGTGCACCCTGGGAATGGGATTCCTTATGTGCAGCAGGCTGTGTGGCCCCTGGTGCCTGCTTTGCAGGGGTGAGGGGAGGAGGGGTTAAGGCAGTCGATAGGAAACGCTTCCTATGCCAAAATTTCACACAGCCAGCTCTACCCTCTGTGGCCAGAGGGCGGGGGATCCCCAAACCCAAGCCCATGGGCCCAGCCCTTCTCCTTCCAGCCTGGGACCTCAGCACCTGCAGCCCCGCCCCTGCCTCCTCAAAGTGCTTATAGCCCTCCTCTACTCCTCCACTCTCTTTTTGCAAAGCCCTGAAGACAAACTCGGCCCCTTGAGGACACAGGTCTCAGCCCCGCCTGGCCCCATCCCCAGGGGCCGCCCTCACTGTGCAGAATGGCCAGGGCCAGGATGCCTCCAGTGCTGGTGCCCGCCACCCAGTCAAACAGGTCCTTGGTGGCCACACCCGAGGCCTTCTTGATGGCGATGAGGAGCTGGATGATGATGAGGCCTTTCACTCCTCCTCCATCCAGGCACAGCAGGTGGTCGTGGCTGCAGTGGGAACAGCAGTGGGAGAGAGGAGGGTCCTGCCACAGCCCAGTACTTTACATCCACCCTCATAGCCCTTGTCCCCTGCAGCTGTGTCCTGGCAGACAGACCCAGACGGACCCGAGGAACTTCTGTCCTATGCAGGACAGCGAGGGTGGGGGTGAGGGCAGTAAAGGAACAAATGTCTAGTATTTCAGGGGCTGGAGAGTGCAACAGAGAAAGGGAAAGGAAGGTCGGGGGATAGCATCACTGACCAGGCGCCATCCCAGCAGGATCTCGGCCAGTCTCCCCAACTTGGGACACCTGATTTTGGTCAGTATCAGGCCTGATCCAAAGCAGGTGCCTGATAAAGTCTGTTGGAATTAAATAAGGCTGGGGAAGGAGGGGCGGGGACCCTACAGCCAGGCCAGGAATGGGCAGTGACAGAGTATCAGGGCCTCCACACAAGGTGGAAGAAGCAGGGGAGGAGGGGGCAGGGAGGAAGGGAGAGGTTCATGCCAGGGGCTATGGGAGGGGTGCTACCAGCATTAGCTCATGTCATTGTCCCAAACGCCTCTGAGGCAGACCCTCCCTGACATCCCTGTGCTTATTTATTTAGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATAACGCGATCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCTCAACCTCCCGAGTAGCTGGGATCACAGGTGCCCGCCACCACACCCAGCTAATTTTGTATTTTTAATAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCATGTGATCCGCCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACCGTGCCCAGCCTTATTTATTTATTTATTTATTTATAGAGACAGGGTCTCACTCTGTCACCCAGGCTGGTGTGTGGTGGTGCAATCACAGTTCACGGCAGCCTCAACCTTCTGAGCTCAAGTGATCCTCCCGAGTAGCTGGGACTACAGGCAGGAGCCACTGCGCCTACTCTCTGTGCATATTTTTGAGTGACGGAGGGAGTGTAGCTCAGAGGTTAGGTGACGGGAACCAAGTCATATGGATGCGGACTGGACCTGGACCCAGGTCTGCCGCCTCCTGAGTCACATGCTCTCCAGCGCGCCCTGACACGTCTCCCCACATCCTGCCTGTCCTCATTGGCCATGCCCTGGGGGAATGCCTTTGTGGTTGGTTCAGTCTGGAACCTTCCTCTGATCTTCTCATCTTCCCATCTCAGCTTGATGAAGCTGAGAGAAGCCTGCCCTGATGCCATCGAGACCCTCCCTCACAGCCCGCCTGCTGCTCCACCTGCTTCCTGGTGGAGGCTGCTTCCATTCCATTCGCAATCTTTCTTTTACTCTCTCCTGCGCTGACCTGGAAGCTCCACCAGGGCAGAAGCCGCCTCTGCTCTGGGCAGCGCTGTGTGTCAAGGGGATGCAGGAGGTGCCCAAGAGGGCTGATAAATGGAGGAGGCCCGGGTCCCACCTCTAGGGGTCTTTTCCTGGACCAGGTACCCAGCCCCACAGCAAGCCTAGAGGTGGCAGGGGAGAGACTACACTGTTGCTGGAGGCCAAAGCAAACTCCCGAAGATGCGGGGCTGGCGACAGAGATCAACCCAGAGGGCGCAGGGCTCTGTAGCTTGGAAGGCCCAAGTGGGGAGCTACCGAGGGGTCTCCTGACTCTTGCCTCAGCCCCGCTCCAGGCAGGGTTCTGAGGCTCCAGAATCTGGGGAATCTGCTTTTCCTCCCTTGGGAAATGTGGGTCCCCCCTTCAGGTGCAGCTGCCTCACCTCAGCCCCTGCACAGGTGTGTGTATGTACATGCATGTGTGTACATGTGTGTGCATGTGTGTGGGTGTCCATGTGCATGCATGCATGTGTATGTGTGCGCATGTGTATGTGTGTGCATGCACGTGTGTTTGCATGTGTGCATG 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Task1_train_28813 | The gene PLA2G6 (phospholipase A2 group VI) is located on Chromosome 22, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Neurodegeneration with brain iron accumulation 2B | CAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAAAGTCTATCAGCAGTTCTTAAAGTAAGACCTGGGGACCCCTGTGAACACGTGATACCCTTTCAGAGGTCTCACACCCAGCTAATTTTGCATTTTTAGTAGAGATGGGCTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCTGACCATCTTGGCCTCCCAAAGTGCTGGTGTACACGAGCCACTGCAGCTGGCCAGTTATTTTTTAAGTTTTTTAAAAAATTTTTAATTTTAATTTTTGTGGGTACATAGTAGGCATATATATTTATTATTGTTATTTTTAAATGAATTAATATTTTGAAATTTTCACACTTTAAATTTCTAAAATGGTAAATATAGATAAAGAAAATCCAGATGATTAAAAAATCTTTGTGATCCTCAATAATTTTTCAGAGTATAAAGGGATCAAATAGGCCAAAAAACTTGAGAACTGCTGAGTTAGATCATTCCAAGGGCCCACCCAGTGCTAAAAATGTCCACAGTTTCAAAAATGAAACTATTTATAGTTTCAGCCTTTTGGGCAACAACATCTCTTCCAAGTTTTGACCTTTGGTATAAAACAGGATGTCTCTGAATGTGTCCTGAATCAGCTTTTAGAGTCCCGGGGGTCTCTCATGTTCTGTCACTGAGACTCAGTAAACAGACTTCTGTACATACGGTATTGCTATAGAAAACGTGCACACGGTGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGTGCCAAGGCGGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGTGCCTGCAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGTGCGAGACTCCATCTCGAAAAAAAAGAATACATGCACACACATATGTCTGTAACACAGTAACGTCCTCCTCTGCTAGGTTTAATATGTTCATACTCTAGATGTGTAACCAGACAGTAAGGGCTTTGAGGGCAGGAACTGTGTTCTATAATAAACCAACGAATATGCCTGGCACCTGCCACAGGCTGCTGGGCTGCACACTCAGGCTTTGCCTGCCAGGATCTTACAGCCTCCCAGGGAAGATGAGAGCAACACGCGGACCAGTGAAGGGAAGCAGGATGCTCACTCGGGCCAGGTACTGCGTGTGTCACTTAGACATTCTGTAGAGGGTGACCAAGTGTCCACCATAACTTTTCCACAACTCTTCCAGATAAGTATTGACACCACCATTTTCCAGATGAGGAAATCGAGGCTGACAGGTGACATGGCTTGCTCAGGGCCAGTCTATGGCCAGAGCTGTCATTTTTCCCTCTCGTGCCATGCAAGTGCCAAATGGGGGCACAGGTGGAAAAGGTACCACAGCACACAGGAGGTGGTGTTATTTTGGGCTGAGAGGGGGACTTGGAAGGCTTCCTGAGGGAGGAGTCAGGGTCTGAACTGAGCTTTGGGTGGGAAGATGATTTGGAGCAGCTGACGATAGGAGGGAGACAGTGGGGAGGAGGGCTCCAGTCCGGACAGCCCTCCTGCATTCCCACCGGGGCCCCACAGGGCAGGACACGCGGTCCTGGGCTCACCGACATGGCCAGGTGCAGCGGGGTGTTGCCGTGCTCTCCGCGGGCATCCGCGTTGGCCCCGTGGGTCAGCAGCACTATGGCACAGTCGAAGCGGTTGCGCATCACCGCCACGTGCAGGGCCGTGTTCCCCGCGGAGCTGGTGCTGTTCACGTTGCAGCCCCGTTTCAGCAGCATGCGGGCCATCTGCGGGAGACGGTCAGGCTGAGTTAGCACAGGCACTCGGGGAGCTGCCGCACCCCGGGACACGTGGGCACTGCCACTTCTGCTCTGAGAGGCCTACAGGTACTGGGATGTTGGAAAGCGCTAGCAAGAGGATTCCAGGGGCAGGCCCCAGTTCTAGGGGGGCCTAGACTGCCTCCCATCCCATCAGCATCCCAAGACTAGGGACAAAAAGCCAAAGATGTGCTGACTGTTTTAAGAGGCTTCTGGTCCTTTCCTAGTGCCAACAGAACCCACTCTCCTTGCAAAGGCTCCTCTGGGGCCTGTCCTGAAGCACCCCGCTCCCTGCATCCCTCCCTGGAACCCTGCAAAGGTATCACCTCTCACTGGGCCTTGGCAATGCACATCCCTGGCAGAGCCTTGGGAACAGGGAGGGGAGCCTGGCTTTGGAGTCACAGACCTGAGCCCAAAGCCCAGCTTCACTCATCCCAGCTGCCTGCGCTTGGATGGGTCACTGTAGCCATGTGCACTTCAGGGCTTCTGTGAAGATGGGAATGCAAGTCCCCACCTCACAGCATGTGATGACAATGAGTGACCAAACCTACACGGAAGGGCCTGACTCGGTGTCCGGCTCCTGGAATGCAGAGGTACCCTGAGGCTGGCAGTGCCCTCCCTCCTGGCCCATCACATTGAGAAGTAGGCCATGAACTCTGGGGCATCCCATTCTCTGTCAAGCTGTGCTTCCTGGTGATGAGACCAGAGGCCTCCATCCTCCCAGGAGGACAGAGCTTAGCTTAGGGGAAGAACTCAGAGGAGATGCCCAGCCAGGCTCCCTGTGTGTGCAGCTAGGCCCAGCACCACCACCACCACCATCATCATCCATCATCATCATCATCATCTTGATGGTTAATAATGAGTGTCAACTTGATTGGATTGAAGGATGTAAAGTATTGACCCTGGGTGTGTCTGAGAGGGTGCTGCTAACGGAGATTAACATTTGAGTCAGTAGGGGAAGGCAGACCTACCCTTAATCTGGGTGGGCACCATCTAATCAGCTGCCAGCACGGCCAGAATATAAAGCAGGCAGAAAAAAATGTGAAAAGGCTAGACTGGCTTAGCCTCCCAGCCTACATCTTTCTCCCGTGCTGGATGCTTCCTGCCCTCAAACATCAGACTCCAAGTCCTTCAGCTCTGGGACTTGGACTGGCTTCCTTGCTCCTCAGCTTGCGATGGCCTATTGTGGGACCTTGTGATCGTGTGAGTTAATGCTCCTTAATAAATCCCCCTTTAGGCCAGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAAAAATAAACCCCCCTCTCTCTCTATATATATATCTCCTGTTAGTTCTGGCCCTCTAGAGAATCCTGACTAATAATACAATCATCATCACGCCACCTTCTATTTGGGAAGCACTTTACAATTTGTGCCGAGTTTTGTCACACACTGCCTTGCTGACTTCATCACATCGCCAAAGCAGAATTCATGGATGAGGAAACTGAGGCACAGGGCGGATCCCCCCGCCCAGCCAGAGAGCAGCAGAGCCCTGCCAGGATCCCAGCTCTTCATGGACTTCTCTGCCTGCACACCCACTGCAAGGTCAGCCCCCAAG 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CAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAAAGTCTATCAGCAGTTCTTAAAGTAAGACCTGGGGACCCCTGTGAACACGTGATACCCTTTCAGAGGTCTCACACCCAGCTAATTTTGCATTTTTAGTAGAGATGGGCTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCTGACCATCTTGGCCTCCCAAAGTGCTGGTGTACACGAGCCACTGCAGCTGGCCAGTTATTTTTTAAGTTTTTTAAAAAATTTTTAATTTTAATTTTTGTGGGTACATAGTAGGCATATATATTTATTATTGTTATTTTTAAATGAATTAATATTTTGAAATTTTCACACTTTAAATTTCTAAAATGGTAAATATAGATAAAGAAAATCCAGATGATTAAAAAATCTTTGTGATCCTCAATAATTTTTCAGAGTATAAAGGGATCAAATAGGCCAAAAAACTTGAGAACTGCTGAGTTAGATCATTCCAAGGGCCCACCCAGTGCTAAAAATGTCCACAGTTTCAAAAATGAAACTATTTATAGTTTCAGCCTTTTGGGCAACAACATCTCTTCCAAGTTTTGACCTTTGGTATAAAACAGGATGTCTCTGAATGTGTCCTGAATCAGCTTTTAGAGTCCCGGGGGTCTCTCATGTTCTGTCACTGAGACTCAGTAAACAGACTTCTGTACATACGGTATTGCTATAGAAAACGTGCACACGGTGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGTGCCAAGGCGGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGTGCCTGCAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGTGCGAGACTCCATCTCGAAAAAAAAGAATACATGCACACACATATGTCTGTAACACAGTAACGTCCTCCTCTGCTAGGTTTAATATGTTCATACTCTAGATGTGTAACCAGACAGTAAGGGCTTTGAGGGCAGGAACTGTGTTCTATAATAAACCAACGAATATGCCTGGCACCTGCCACAGGCTGCTGGGCTGCACACTCAGGCTTTGCCTGCCAGGATCTTACAGCCTCCCAGGGAAGATGAGAGCAACACGCGGACCAGTGAAGGGAAGCAGGATGCTCACTCGGGCCAGGTACTGCGTGTGTCACTTAGACATTCTGTAGAGGGTGACCAAGTGTCCACCATAACTTTTCCACAACTCTTCCAGATAAGTATTGACACCACCATTTTCCAGATGAGGAAATCGAGGCTGACAGGTGACATGGCTTGCTCAGGGCCAGTCTATGGCCAGAGCTGTCATTTTTCCCTCTCGTGCCATGCAAGTGCCAAATGGGGGCACAGGTGGAAAAGGTACCACAGCACACAGGAGGTGGTGTTATTTTGGGCTGAGAGGGGGACTTGGAAGGCTTCCTGAGGGAGGAGTCAGGGTCTGAACTGAGCTTTGGGTGGGAAGATGATTTGGAGCAGCTGACGATAGGAGGGAGACAGTGGGGAGGAGGGCTCCAGTCCGGACAGCCCTCCTGCATTCCCACCGGGGCCCCACAGGGCAGGACACGCGGTCCTGGGCTCACCGACATGGTCAGGTGCAGCGGGGTGTTGCCGTGCTCTCCGCGGGCATCCGCGTTGGCCCCGTGGGTCAGCAGCACTATGGCACAGTCGAAGCGGTTGCGCATCACCGCCACGTGCAGGGCCGTGTTCCCCGCGGAGCTGGTGCTGTTCACGTTGCAGCCCCGTTTCAGCAGCATGCGGGCCATCTGCGGGAGACGGTCAGGCTGAGTTAGCACAGGCACTCGGGGAGCTGCCGCACCCCGGGACACGTGGGCACTGCCACTTCTGCTCTGAGAGGCCTACAGGTACTGGGATGTTGGAAAGCGCTAGCAAGAGGATTCCAGGGGCAGGCCCCAGTTCTAGGGGGGCCTAGACTGCCTCCCATCCCATCAGCATCCCAAGACTAGGGACAAAAAGCCAAAGATGTGCTGACTGTTTTAAGAGGCTTCTGGTCCTTTCCTAGTGCCAACAGAACCCACTCTCCTTGCAAAGGCTCCTCTGGGGCCTGTCCTGAAGCACCCCGCTCCCTGCATCCCTCCCTGGAACCCTGCAAAGGTATCACCTCTCACTGGGCCTTGGCAATGCACATCCCTGGCAGAGCCTTGGGAACAGGGAGGGGAGCCTGGCTTTGGAGTCACAGACCTGAGCCCAAAGCCCAGCTTCACTCATCCCAGCTGCCTGCGCTTGGATGGGTCACTGTAGCCATGTGCACTTCAGGGCTTCTGTGAAGATGGGAATGCAAGTCCCCACCTCACAGCATGTGATGACAATGAGTGACCAAACCTACACGGAAGGGCCTGACTCGGTGTCCGGCTCCTGGAATGCAGAGGTACCCTGAGGCTGGCAGTGCCCTCCCTCCTGGCCCATCACATTGAGAAGTAGGCCATGAACTCTGGGGCATCCCATTCTCTGTCAAGCTGTGCTTCCTGGTGATGAGACCAGAGGCCTCCATCCTCCCAGGAGGACAGAGCTTAGCTTAGGGGAAGAACTCAGAGGAGATGCCCAGCCAGGCTCCCTGTGTGTGCAGCTAGGCCCAGCACCACCACCACCACCATCATCATCCATCATCATCATCATCATCTTGATGGTTAATAATGAGTGTCAACTTGATTGGATTGAAGGATGTAAAGTATTGACCCTGGGTGTGTCTGAGAGGGTGCTGCTAACGGAGATTAACATTTGAGTCAGTAGGGGAAGGCAGACCTACCCTTAATCTGGGTGGGCACCATCTAATCAGCTGCCAGCACGGCCAGAATATAAAGCAGGCAGAAAAAAATGTGAAAAGGCTAGACTGGCTTAGCCTCCCAGCCTACATCTTTCTCCCGTGCTGGATGCTTCCTGCCCTCAAACATCAGACTCCAAGTCCTTCAGCTCTGGGACTTGGACTGGCTTCCTTGCTCCTCAGCTTGCGATGGCCTATTGTGGGACCTTGTGATCGTGTGAGTTAATGCTCCTTAATAAATCCCCCTTTAGGCCAGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAAAAATAAACCCCCCTCTCTCTCTATATATATATCTCCTGTTAGTTCTGGCCCTCTAGAGAATCCTGACTAATAATACAATCATCATCACGCCACCTTCTATTTGGGAAGCACTTTACAATTTGTGCCGAGTTTTGTCACACACTGCCTTGCTGACTTCATCACATCGCCAAAGCAGAATTCATGGATGAGGAAACTGAGGCACAGGGCGGATCCCCCCGCCCAGCCAGAGAGCAGCAGAGCCCTGCCAGGATCCCAGCTCTTCATGGACTTCTCTGCCTGCACACCCACTGCAAGGTCAGCCCCCAAG 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Task1_train_28814 | This variant impacts the gene PLA2G6 (phospholipase A2 group VI) on Chromosome 22. Is the change likely to result in a pathogenic outcome? | Pathogenic; Infantile neuroaxonal dystrophy | CAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAAAGTCTATCAGCAGTTCTTAAAGTAAGACCTGGGGACCCCTGTGAACACGTGATACCCTTTCAGAGGTCTCACACCCAGCTAATTTTGCATTTTTAGTAGAGATGGGCTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCTGACCATCTTGGCCTCCCAAAGTGCTGGTGTACACGAGCCACTGCAGCTGGCCAGTTATTTTTTAAGTTTTTTAAAAAATTTTTAATTTTAATTTTTGTGGGTACATAGTAGGCATATATATTTATTATTGTTATTTTTAAATGAATTAATATTTTGAAATTTTCACACTTTAAATTTCTAAAATGGTAAATATAGATAAAGAAAATCCAGATGATTAAAAAATCTTTGTGATCCTCAATAATTTTTCAGAGTATAAAGGGATCAAATAGGCCAAAAAACTTGAGAACTGCTGAGTTAGATCATTCCAAGGGCCCACCCAGTGCTAAAAATGTCCACAGTTTCAAAAATGAAACTATTTATAGTTTCAGCCTTTTGGGCAACAACATCTCTTCCAAGTTTTGACCTTTGGTATAAAACAGGATGTCTCTGAATGTGTCCTGAATCAGCTTTTAGAGTCCCGGGGGTCTCTCATGTTCTGTCACTGAGACTCAGTAAACAGACTTCTGTACATACGGTATTGCTATAGAAAACGTGCACACGGTGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGTGCCAAGGCGGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGTGCCTGCAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGTGCGAGACTCCATCTCGAAAAAAAAGAATACATGCACACACATATGTCTGTAACACAGTAACGTCCTCCTCTGCTAGGTTTAATATGTTCATACTCTAGATGTGTAACCAGACAGTAAGGGCTTTGAGGGCAGGAACTGTGTTCTATAATAAACCAACGAATATGCCTGGCACCTGCCACAGGCTGCTGGGCTGCACACTCAGGCTTTGCCTGCCAGGATCTTACAGCCTCCCAGGGAAGATGAGAGCAACACGCGGACCAGTGAAGGGAAGCAGGATGCTCACTCGGGCCAGGTACTGCGTGTGTCACTTAGACATTCTGTAGAGGGTGACCAAGTGTCCACCATAACTTTTCCACAACTCTTCCAGATAAGTATTGACACCACCATTTTCCAGATGAGGAAATCGAGGCTGACAGGTGACATGGCTTGCTCAGGGCCAGTCTATGGCCAGAGCTGTCATTTTTCCCTCTCGTGCCATGCAAGTGCCAAATGGGGGCACAGGTGGAAAAGGTACCACAGCACACAGGAGGTGGTGTTATTTTGGGCTGAGAGGGGGACTTGGAAGGCTTCCTGAGGGAGGAGTCAGGGTCTGAACTGAGCTTTGGGTGGGAAGATGATTTGGAGCAGCTGACGATAGGAGGGAGACAGTGGGGAGGAGGGCTCCAGTCCGGACAGCCCTCCTGCATTCCCACCGGGGCCCCACAGGGCAGGACACGCGGTCCTGGGCTCACCGACATGGCCAGGTGCAGCGGGGTGTTGCCGTGCTCTCCGCGGGCATCCGCGTTGGCCCCGTGGGTCAGCAGCACTATGGCACAGTCGAAGCGGTTGCGCATCACCGCCACGTGCAGGGCCGTGTTCCCCGCGGAGCTGGTGCTGTTCACGTTGCAGCCCCGTTTCAGCAGCATGCGGGCCATCTGCGGGAGACGGTCAGGCTGAGTTAGCACAGGCACTCGGGGAGCTGCCGCACCCCGGGACACGTGGGCACTGCCACTTCTGCTCTGAGAGGCCTACAGGTACTGGGATGTTGGAAAGCGCTAGCAAGAGGATTCCAGGGGCAGGCCCCAGTTCTAGGGGGGCCTAGACTGCCTCCCATCCCATCAGCATCCCAAGACTAGGGACAAAAAGCCAAAGATGTGCTGACTGTTTTAAGAGGCTTCTGGTCCTTTCCTAGTGCCAACAGAACCCACTCTCCTTGCAAAGGCTCCTCTGGGGCCTGTCCTGAAGCACCCCGCTCCCTGCATCCCTCCCTGGAACCCTGCAAAGGTATCACCTCTCACTGGGCCTTGGCAATGCACATCCCTGGCAGAGCCTTGGGAACAGGGAGGGGAGCCTGGCTTTGGAGTCACAGACCTGAGCCCAAAGCCCAGCTTCACTCATCCCAGCTGCCTGCGCTTGGATGGGTCACTGTAGCCATGTGCACTTCAGGGCTTCTGTGAAGATGGGAATGCAAGTCCCCACCTCACAGCATGTGATGACAATGAGTGACCAAACCTACACGGAAGGGCCTGACTCGGTGTCCGGCTCCTGGAATGCAGAGGTACCCTGAGGCTGGCAGTGCCCTCCCTCCTGGCCCATCACATTGAGAAGTAGGCCATGAACTCTGGGGCATCCCATTCTCTGTCAAGCTGTGCTTCCTGGTGATGAGACCAGAGGCCTCCATCCTCCCAGGAGGACAGAGCTTAGCTTAGGGGAAGAACTCAGAGGAGATGCCCAGCCAGGCTCCCTGTGTGTGCAGCTAGGCCCAGCACCACCACCACCACCATCATCATCCATCATCATCATCATCATCTTGATGGTTAATAATGAGTGTCAACTTGATTGGATTGAAGGATGTAAAGTATTGACCCTGGGTGTGTCTGAGAGGGTGCTGCTAACGGAGATTAACATTTGAGTCAGTAGGGGAAGGCAGACCTACCCTTAATCTGGGTGGGCACCATCTAATCAGCTGCCAGCACGGCCAGAATATAAAGCAGGCAGAAAAAAATGTGAAAAGGCTAGACTGGCTTAGCCTCCCAGCCTACATCTTTCTCCCGTGCTGGATGCTTCCTGCCCTCAAACATCAGACTCCAAGTCCTTCAGCTCTGGGACTTGGACTGGCTTCCTTGCTCCTCAGCTTGCGATGGCCTATTGTGGGACCTTGTGATCGTGTGAGTTAATGCTCCTTAATAAATCCCCCTTTAGGCCAGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAAAAATAAACCCCCCTCTCTCTCTATATATATATCTCCTGTTAGTTCTGGCCCTCTAGAGAATCCTGACTAATAATACAATCATCATCACGCCACCTTCTATTTGGGAAGCACTTTACAATTTGTGCCGAGTTTTGTCACACACTGCCTTGCTGACTTCATCACATCGCCAAAGCAGAATTCATGGATGAGGAAACTGAGGCACAGGGCGGATCCCCCCGCCCAGCCAGAGAGCAGCAGAGCCCTGCCAGGATCCCAGCTCTTCATGGACTTCTCTGCCTGCACACCCACTGCAAGGTCAGCCCCCAAG | CAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAAAGTCTATCAGCAGTTCTTAAAGTAAGACCTGGGGACCCCTGTGAACACGTGATACCCTTTCAGAGGTCTCACACCCAGCTAATTTTGCATTTTTAGTAGAGATGGGCTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCTGACCATCTTGGCCTCCCAAAGTGCTGGTGTACACGAGCCACTGCAGCTGGCCAGTTATTTTTTAAGTTTTTTAAAAAATTTTTAATTTTAATTTTTGTGGGTACATAGTAGGCATATATATTTATTATTGTTATTTTTAAATGAATTAATATTTTGAAATTTTCACACTTTAAATTTCTAAAATGGTAAATATAGATAAAGAAAATCCAGATGATTAAAAAATCTTTGTGATCCTCAATAATTTTTCAGAGTATAAAGGGATCAAATAGGCCAAAAAACTTGAGAACTGCTGAGTTAGATCATTCCAAGGGCCCACCCAGTGCTAAAAATGTCCACAGTTTCAAAAATGAAACTATTTATAGTTTCAGCCTTTTGGGCAACAACATCTCTTCCAAGTTTTGACCTTTGGTATAAAACAGGATGTCTCTGAATGTGTCCTGAATCAGCTTTTAGAGTCCCGGGGGTCTCTCATGTTCTGTCACTGAGACTCAGTAAACAGACTTCTGTACATACGGTATTGCTATAGAAAACGTGCACACGGTGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGTGCCAAGGCGGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGTGCCTGCAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGTGCGAGACTCCATCTCGAAAAAAAAGAATACATGCACACACATATGTCTGTAACACAGTAACGTCCTCCTCTGCTAGGTTTAATATGTTCATACTCTAGATGTGTAACCAGACAGTAAGGGCTTTGAGGGCAGGAACTGTGTTCTATAATAAACCAACGAATATGCCTGGCACCTGCCACAGGCTGCTGGGCTGCACACTCAGGCTTTGCCTGCCAGGATCTTACAGCCTCCCAGGGAAGATGAGAGCAACACGCGGACCAGTGAAGGGAAGCAGGATGCTCACTCGGGCCAGGTACTGCGTGTGTCACTTAGACATTCTGTAGAGGGTGACCAAGTGTCCACCATAACTTTTCCACAACTCTTCCAGATAAGTATTGACACCACCATTTTCCAGATGAGGAAATCGAGGCTGACAGGTGACATGGCTTGCTCAGGGCCAGTCTATGGCCAGAGCTGTCATTTTTCCCTCTCGTGCCATGCAAGTGCCAAATGGGGGCACAGGTGGAAAAGGTACCACAGCACACAGGAGGTGGTGTTATTTTGGGCTGAGAGGGGGACTTGGAAGGCTTCCTGAGGGAGGAGTCAGGGTCTGAACTGAGCTTTGGGTGGGAAGATGATTTGGAGCAGCTGACGATAGGAGGGAGACAGTGGGGAGGAGGGCTCCAGTCCGGACAGCCCTCCTGCATTCCCACCGGGGCCCCACAGGGCAGGACACGCGGTCCTGGGCTCACCGACATGGTCAGGTGCAGCGGGGTGTTGCCGTGCTCTCCGCGGGCATCCGCGTTGGCCCCGTGGGTCAGCAGCACTATGGCACAGTCGAAGCGGTTGCGCATCACCGCCACGTGCAGGGCCGTGTTCCCCGCGGAGCTGGTGCTGTTCACGTTGCAGCCCCGTTTCAGCAGCATGCGGGCCATCTGCGGGAGACGGTCAGGCTGAGTTAGCACAGGCACTCGGGGAGCTGCCGCACCCCGGGACACGTGGGCACTGCCACTTCTGCTCTGAGAGGCCTACAGGTACTGGGATGTTGGAAAGCGCTAGCAAGAGGATTCCAGGGGCAGGCCCCAGTTCTAGGGGGGCCTAGACTGCCTCCCATCCCATCAGCATCCCAAGACTAGGGACAAAAAGCCAAAGATGTGCTGACTGTTTTAAGAGGCTTCTGGTCCTTTCCTAGTGCCAACAGAACCCACTCTCCTTGCAAAGGCTCCTCTGGGGCCTGTCCTGAAGCACCCCGCTCCCTGCATCCCTCCCTGGAACCCTGCAAAGGTATCACCTCTCACTGGGCCTTGGCAATGCACATCCCTGGCAGAGCCTTGGGAACAGGGAGGGGAGCCTGGCTTTGGAGTCACAGACCTGAGCCCAAAGCCCAGCTTCACTCATCCCAGCTGCCTGCGCTTGGATGGGTCACTGTAGCCATGTGCACTTCAGGGCTTCTGTGAAGATGGGAATGCAAGTCCCCACCTCACAGCATGTGATGACAATGAGTGACCAAACCTACACGGAAGGGCCTGACTCGGTGTCCGGCTCCTGGAATGCAGAGGTACCCTGAGGCTGGCAGTGCCCTCCCTCCTGGCCCATCACATTGAGAAGTAGGCCATGAACTCTGGGGCATCCCATTCTCTGTCAAGCTGTGCTTCCTGGTGATGAGACCAGAGGCCTCCATCCTCCCAGGAGGACAGAGCTTAGCTTAGGGGAAGAACTCAGAGGAGATGCCCAGCCAGGCTCCCTGTGTGTGCAGCTAGGCCCAGCACCACCACCACCACCATCATCATCCATCATCATCATCATCATCTTGATGGTTAATAATGAGTGTCAACTTGATTGGATTGAAGGATGTAAAGTATTGACCCTGGGTGTGTCTGAGAGGGTGCTGCTAACGGAGATTAACATTTGAGTCAGTAGGGGAAGGCAGACCTACCCTTAATCTGGGTGGGCACCATCTAATCAGCTGCCAGCACGGCCAGAATATAAAGCAGGCAGAAAAAAATGTGAAAAGGCTAGACTGGCTTAGCCTCCCAGCCTACATCTTTCTCCCGTGCTGGATGCTTCCTGCCCTCAAACATCAGACTCCAAGTCCTTCAGCTCTGGGACTTGGACTGGCTTCCTTGCTCCTCAGCTTGCGATGGCCTATTGTGGGACCTTGTGATCGTGTGAGTTAATGCTCCTTAATAAATCCCCCTTTAGGCCAGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAAAAATAAACCCCCCTCTCTCTCTATATATATATCTCCTGTTAGTTCTGGCCCTCTAGAGAATCCTGACTAATAATACAATCATCATCACGCCACCTTCTATTTGGGAAGCACTTTACAATTTGTGCCGAGTTTTGTCACACACTGCCTTGCTGACTTCATCACATCGCCAAAGCAGAATTCATGGATGAGGAAACTGAGGCACAGGGCGGATCCCCCCGCCCAGCCAGAGAGCAGCAGAGCCCTGCCAGGATCCCAGCTCTTCATGGACTTCTCTGCCTGCACACCCACTGCAAGGTCAGCCCCCAAG 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Task1_train_28815 | Consider this mutation in PLA2G6 (phospholipase A2 group VI) on Chromosome 22. Is this a benign change or a disease-causing variant? | Pathogenic; Neurodegeneration with brain iron accumulation | GAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAAAGTCTATCAGCAGTTCTTAAAGTAAGACCTGGGGACCCCTGTGAACACGTGATACCCTTTCAGAGGTCTCACACCCAGCTAATTTTGCATTTTTAGTAGAGATGGGCTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCTGACCATCTTGGCCTCCCAAAGTGCTGGTGTACACGAGCCACTGCAGCTGGCCAGTTATTTTTTAAGTTTTTTAAAAAATTTTTAATTTTAATTTTTGTGGGTACATAGTAGGCATATATATTTATTATTGTTATTTTTAAATGAATTAATATTTTGAAATTTTCACACTTTAAATTTCTAAAATGGTAAATATAGATAAAGAAAATCCAGATGATTAAAAAATCTTTGTGATCCTCAATAATTTTTCAGAGTATAAAGGGATCAAATAGGCCAAAAAACTTGAGAACTGCTGAGTTAGATCATTCCAAGGGCCCACCCAGTGCTAAAAATGTCCACAGTTTCAAAAATGAAACTATTTATAGTTTCAGCCTTTTGGGCAACAACATCTCTTCCAAGTTTTGACCTTTGGTATAAAACAGGATGTCTCTGAATGTGTCCTGAATCAGCTTTTAGAGTCCCGGGGGTCTCTCATGTTCTGTCACTGAGACTCAGTAAACAGACTTCTGTACATACGGTATTGCTATAGAAAACGTGCACACGGTGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGTGCCAAGGCGGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGTGCCTGCAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGTGCGAGACTCCATCTCGAAAAAAAAGAATACATGCACACACATATGTCTGTAACACAGTAACGTCCTCCTCTGCTAGGTTTAATATGTTCATACTCTAGATGTGTAACCAGACAGTAAGGGCTTTGAGGGCAGGAACTGTGTTCTATAATAAACCAACGAATATGCCTGGCACCTGCCACAGGCTGCTGGGCTGCACACTCAGGCTTTGCCTGCCAGGATCTTACAGCCTCCCAGGGAAGATGAGAGCAACACGCGGACCAGTGAAGGGAAGCAGGATGCTCACTCGGGCCAGGTACTGCGTGTGTCACTTAGACATTCTGTAGAGGGTGACCAAGTGTCCACCATAACTTTTCCACAACTCTTCCAGATAAGTATTGACACCACCATTTTCCAGATGAGGAAATCGAGGCTGACAGGTGACATGGCTTGCTCAGGGCCAGTCTATGGCCAGAGCTGTCATTTTTCCCTCTCGTGCCATGCAAGTGCCAAATGGGGGCACAGGTGGAAAAGGTACCACAGCACACAGGAGGTGGTGTTATTTTGGGCTGAGAGGGGGACTTGGAAGGCTTCCTGAGGGAGGAGTCAGGGTCTGAACTGAGCTTTGGGTGGGAAGATGATTTGGAGCAGCTGACGATAGGAGGGAGACAGTGGGGAGGAGGGCTCCAGTCCGGACAGCCCTCCTGCATTCCCACCGGGGCCCCACAGGGCAGGACACGCGGTCCTGGGCTCACCGACATGGCCAGGTGCAGCGGGGTGTTGCCGTGCTCTCCGCGGGCATCCGCGTTGGCCCCGTGGGTCAGCAGCACTATGGCACAGTCGAAGCGGTTGCGCATCACCGCCACGTGCAGGGCCGTGTTCCCCGCGGAGCTGGTGCTGTTCACGTTGCAGCCCCGTTTCAGCAGCATGCGGGCCATCTGCGGGAGACGGTCAGGCTGAGTTAGCACAGGCACTCGGGGAGCTGCCGCACCCCGGGACACGTGGGCACTGCCACTTCTGCTCTGAGAGGCCTACAGGTACTGGGATGTTGGAAAGCGCTAGCAAGAGGATTCCAGGGGCAGGCCCCAGTTCTAGGGGGGCCTAGACTGCCTCCCATCCCATCAGCATCCCAAGACTAGGGACAAAAAGCCAAAGATGTGCTGACTGTTTTAAGAGGCTTCTGGTCCTTTCCTAGTGCCAACAGAACCCACTCTCCTTGCAAAGGCTCCTCTGGGGCCTGTCCTGAAGCACCCCGCTCCCTGCATCCCTCCCTGGAACCCTGCAAAGGTATCACCTCTCACTGGGCCTTGGCAATGCACATCCCTGGCAGAGCCTTGGGAACAGGGAGGGGAGCCTGGCTTTGGAGTCACAGACCTGAGCCCAAAGCCCAGCTTCACTCATCCCAGCTGCCTGCGCTTGGATGGGTCACTGTAGCCATGTGCACTTCAGGGCTTCTGTGAAGATGGGAATGCAAGTCCCCACCTCACAGCATGTGATGACAATGAGTGACCAAACCTACACGGAAGGGCCTGACTCGGTGTCCGGCTCCTGGAATGCAGAGGTACCCTGAGGCTGGCAGTGCCCTCCCTCCTGGCCCATCACATTGAGAAGTAGGCCATGAACTCTGGGGCATCCCATTCTCTGTCAAGCTGTGCTTCCTGGTGATGAGACCAGAGGCCTCCATCCTCCCAGGAGGACAGAGCTTAGCTTAGGGGAAGAACTCAGAGGAGATGCCCAGCCAGGCTCCCTGTGTGTGCAGCTAGGCCCAGCACCACCACCACCACCATCATCATCCATCATCATCATCATCATCTTGATGGTTAATAATGAGTGTCAACTTGATTGGATTGAAGGATGTAAAGTATTGACCCTGGGTGTGTCTGAGAGGGTGCTGCTAACGGAGATTAACATTTGAGTCAGTAGGGGAAGGCAGACCTACCCTTAATCTGGGTGGGCACCATCTAATCAGCTGCCAGCACGGCCAGAATATAAAGCAGGCAGAAAAAAATGTGAAAAGGCTAGACTGGCTTAGCCTCCCAGCCTACATCTTTCTCCCGTGCTGGATGCTTCCTGCCCTCAAACATCAGACTCCAAGTCCTTCAGCTCTGGGACTTGGACTGGCTTCCTTGCTCCTCAGCTTGCGATGGCCTATTGTGGGACCTTGTGATCGTGTGAGTTAATGCTCCTTAATAAATCCCCCTTTAGGCCAGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAAAAATAAACCCCCCTCTCTCTCTATATATATATCTCCTGTTAGTTCTGGCCCTCTAGAGAATCCTGACTAATAATACAATCATCATCACGCCACCTTCTATTTGGGAAGCACTTTACAATTTGTGCCGAGTTTTGTCACACACTGCCTTGCTGACTTCATCACATCGCCAAAGCAGAATTCATGGATGAGGAAACTGAGGCACAGGGCGGATCCCCCCGCCCAGCCAGAGAGCAGCAGAGCCCTGCCAGGATCCCAGCTCTTCATGGACTTCTCTGCCTGCACACCCACTGCAAGGTCAGCCCCCAAGTGCTAGCCTCAGGGTCCTCTCGGGAACCTG | GAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAAAGTCTATCAGCAGTTCTTAAAGTAAGACCTGGGGACCCCTGTGAACACGTGATACCCTTTCAGAGGTCTCACACCCAGCTAATTTTGCATTTTTAGTAGAGATGGGCTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCTGACCATCTTGGCCTCCCAAAGTGCTGGTGTACACGAGCCACTGCAGCTGGCCAGTTATTTTTTAAGTTTTTTAAAAAATTTTTAATTTTAATTTTTGTGGGTACATAGTAGGCATATATATTTATTATTGTTATTTTTAAATGAATTAATATTTTGAAATTTTCACACTTTAAATTTCTAAAATGGTAAATATAGATAAAGAAAATCCAGATGATTAAAAAATCTTTGTGATCCTCAATAATTTTTCAGAGTATAAAGGGATCAAATAGGCCAAAAAACTTGAGAACTGCTGAGTTAGATCATTCCAAGGGCCCACCCAGTGCTAAAAATGTCCACAGTTTCAAAAATGAAACTATTTATAGTTTCAGCCTTTTGGGCAACAACATCTCTTCCAAGTTTTGACCTTTGGTATAAAACAGGATGTCTCTGAATGTGTCCTGAATCAGCTTTTAGAGTCCCGGGGGTCTCTCATGTTCTGTCACTGAGACTCAGTAAACAGACTTCTGTACATACGGTATTGCTATAGAAAACGTGCACACGGTGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGTGCCAAGGCGGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGTGCCTGCAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGTGCGAGACTCCATCTCGAAAAAAAAGAATACATGCACACACATATGTCTGTAACACAGTAACGTCCTCCTCTGCTAGGTTTAATATGTTCATACTCTAGATGTGTAACCAGACAGTAAGGGCTTTGAGGGCAGGAACTGTGTTCTATAATAAACCAACGAATATGCCTGGCACCTGCCACAGGCTGCTGGGCTGCACACTCAGGCTTTGCCTGCCAGGATCTTACAGCCTCCCAGGGAAGATGAGAGCAACACGCGGACCAGTGAAGGGAAGCAGGATGCTCACTCGGGCCAGGTACTGCGTGTGTCACTTAGACATTCTGTAGAGGGTGACCAAGTGTCCACCATAACTTTTCCACAACTCTTCCAGATAAGTATTGACACCACCATTTTCCAGATGAGGAAATCGAGGCTGACAGGTGACATGGCTTGCTCAGGGCCAGTCTATGGCCAGAGCTGTCATTTTTCCCTCTCGTGCCATGCAAGTGCCAAATGGGGGCACAGGTGGAAAAGGTACCACAGCACACAGGAGGTGGTGTTATTTTGGGCTGAGAGGGGGACTTGGAAGGCTTCCTGAGGGAGGAGTCAGGGTCTGAACTGAGCTTTGGGTGGGAAGATGATTTGGAGCAGCTGACGATAGGAGGGAGACAGTGGGGAGGAGGGCTCCAGTCCGGACAGCCCTCCTGCATTCCCACCGGGGCCCCACAGGGCAGGACACGCGGTCCTGGGCTCACCGACATGGCCAGGTGCAGCGGGGTGTTGCCGTGCTCTCTGCGGGCATCCGCGTTGGCCCCGTGGGTCAGCAGCACTATGGCACAGTCGAAGCGGTTGCGCATCACCGCCACGTGCAGGGCCGTGTTCCCCGCGGAGCTGGTGCTGTTCACGTTGCAGCCCCGTTTCAGCAGCATGCGGGCCATCTGCGGGAGACGGTCAGGCTGAGTTAGCACAGGCACTCGGGGAGCTGCCGCACCCCGGGACACGTGGGCACTGCCACTTCTGCTCTGAGAGGCCTACAGGTACTGGGATGTTGGAAAGCGCTAGCAAGAGGATTCCAGGGGCAGGCCCCAGTTCTAGGGGGGCCTAGACTGCCTCCCATCCCATCAGCATCCCAAGACTAGGGACAAAAAGCCAAAGATGTGCTGACTGTTTTAAGAGGCTTCTGGTCCTTTCCTAGTGCCAACAGAACCCACTCTCCTTGCAAAGGCTCCTCTGGGGCCTGTCCTGAAGCACCCCGCTCCCTGCATCCCTCCCTGGAACCCTGCAAAGGTATCACCTCTCACTGGGCCTTGGCAATGCACATCCCTGGCAGAGCCTTGGGAACAGGGAGGGGAGCCTGGCTTTGGAGTCACAGACCTGAGCCCAAAGCCCAGCTTCACTCATCCCAGCTGCCTGCGCTTGGATGGGTCACTGTAGCCATGTGCACTTCAGGGCTTCTGTGAAGATGGGAATGCAAGTCCCCACCTCACAGCATGTGATGACAATGAGTGACCAAACCTACACGGAAGGGCCTGACTCGGTGTCCGGCTCCTGGAATGCAGAGGTACCCTGAGGCTGGCAGTGCCCTCCCTCCTGGCCCATCACATTGAGAAGTAGGCCATGAACTCTGGGGCATCCCATTCTCTGTCAAGCTGTGCTTCCTGGTGATGAGACCAGAGGCCTCCATCCTCCCAGGAGGACAGAGCTTAGCTTAGGGGAAGAACTCAGAGGAGATGCCCAGCCAGGCTCCCTGTGTGTGCAGCTAGGCCCAGCACCACCACCACCACCATCATCATCCATCATCATCATCATCATCTTGATGGTTAATAATGAGTGTCAACTTGATTGGATTGAAGGATGTAAAGTATTGACCCTGGGTGTGTCTGAGAGGGTGCTGCTAACGGAGATTAACATTTGAGTCAGTAGGGGAAGGCAGACCTACCCTTAATCTGGGTGGGCACCATCTAATCAGCTGCCAGCACGGCCAGAATATAAAGCAGGCAGAAAAAAATGTGAAAAGGCTAGACTGGCTTAGCCTCCCAGCCTACATCTTTCTCCCGTGCTGGATGCTTCCTGCCCTCAAACATCAGACTCCAAGTCCTTCAGCTCTGGGACTTGGACTGGCTTCCTTGCTCCTCAGCTTGCGATGGCCTATTGTGGGACCTTGTGATCGTGTGAGTTAATGCTCCTTAATAAATCCCCCTTTAGGCCAGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAAAAATAAACCCCCCTCTCTCTCTATATATATATCTCCTGTTAGTTCTGGCCCTCTAGAGAATCCTGACTAATAATACAATCATCATCACGCCACCTTCTATTTGGGAAGCACTTTACAATTTGTGCCGAGTTTTGTCACACACTGCCTTGCTGACTTCATCACATCGCCAAAGCAGAATTCATGGATGAGGAAACTGAGGCACAGGGCGGATCCCCCCGCCCAGCCAGAGAGCAGCAGAGCCCTGCCAGGATCCCAGCTCTTCATGGACTTCTCTGCCTGCACACCCACTGCAAGGTCAGCCCCCAAGTGCTAGCCTCAGGGTCCTCTCGGGAACCTG 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Task1_train_28816 | Given a variant located on Chromosome 22 and affecting PLA2G6 (phospholipase A2 group VI), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Infantile neuroaxonal dystrophy | GAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAAAGTCTATCAGCAGTTCTTAAAGTAAGACCTGGGGACCCCTGTGAACACGTGATACCCTTTCAGAGGTCTCACACCCAGCTAATTTTGCATTTTTAGTAGAGATGGGCTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCTGACCATCTTGGCCTCCCAAAGTGCTGGTGTACACGAGCCACTGCAGCTGGCCAGTTATTTTTTAAGTTTTTTAAAAAATTTTTAATTTTAATTTTTGTGGGTACATAGTAGGCATATATATTTATTATTGTTATTTTTAAATGAATTAATATTTTGAAATTTTCACACTTTAAATTTCTAAAATGGTAAATATAGATAAAGAAAATCCAGATGATTAAAAAATCTTTGTGATCCTCAATAATTTTTCAGAGTATAAAGGGATCAAATAGGCCAAAAAACTTGAGAACTGCTGAGTTAGATCATTCCAAGGGCCCACCCAGTGCTAAAAATGTCCACAGTTTCAAAAATGAAACTATTTATAGTTTCAGCCTTTTGGGCAACAACATCTCTTCCAAGTTTTGACCTTTGGTATAAAACAGGATGTCTCTGAATGTGTCCTGAATCAGCTTTTAGAGTCCCGGGGGTCTCTCATGTTCTGTCACTGAGACTCAGTAAACAGACTTCTGTACATACGGTATTGCTATAGAAAACGTGCACACGGTGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGTGCCAAGGCGGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGTGCCTGCAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGTGCGAGACTCCATCTCGAAAAAAAAGAATACATGCACACACATATGTCTGTAACACAGTAACGTCCTCCTCTGCTAGGTTTAATATGTTCATACTCTAGATGTGTAACCAGACAGTAAGGGCTTTGAGGGCAGGAACTGTGTTCTATAATAAACCAACGAATATGCCTGGCACCTGCCACAGGCTGCTGGGCTGCACACTCAGGCTTTGCCTGCCAGGATCTTACAGCCTCCCAGGGAAGATGAGAGCAACACGCGGACCAGTGAAGGGAAGCAGGATGCTCACTCGGGCCAGGTACTGCGTGTGTCACTTAGACATTCTGTAGAGGGTGACCAAGTGTCCACCATAACTTTTCCACAACTCTTCCAGATAAGTATTGACACCACCATTTTCCAGATGAGGAAATCGAGGCTGACAGGTGACATGGCTTGCTCAGGGCCAGTCTATGGCCAGAGCTGTCATTTTTCCCTCTCGTGCCATGCAAGTGCCAAATGGGGGCACAGGTGGAAAAGGTACCACAGCACACAGGAGGTGGTGTTATTTTGGGCTGAGAGGGGGACTTGGAAGGCTTCCTGAGGGAGGAGTCAGGGTCTGAACTGAGCTTTGGGTGGGAAGATGATTTGGAGCAGCTGACGATAGGAGGGAGACAGTGGGGAGGAGGGCTCCAGTCCGGACAGCCCTCCTGCATTCCCACCGGGGCCCCACAGGGCAGGACACGCGGTCCTGGGCTCACCGACATGGCCAGGTGCAGCGGGGTGTTGCCGTGCTCTCCGCGGGCATCCGCGTTGGCCCCGTGGGTCAGCAGCACTATGGCACAGTCGAAGCGGTTGCGCATCACCGCCACGTGCAGGGCCGTGTTCCCCGCGGAGCTGGTGCTGTTCACGTTGCAGCCCCGTTTCAGCAGCATGCGGGCCATCTGCGGGAGACGGTCAGGCTGAGTTAGCACAGGCACTCGGGGAGCTGCCGCACCCCGGGACACGTGGGCACTGCCACTTCTGCTCTGAGAGGCCTACAGGTACTGGGATGTTGGAAAGCGCTAGCAAGAGGATTCCAGGGGCAGGCCCCAGTTCTAGGGGGGCCTAGACTGCCTCCCATCCCATCAGCATCCCAAGACTAGGGACAAAAAGCCAAAGATGTGCTGACTGTTTTAAGAGGCTTCTGGTCCTTTCCTAGTGCCAACAGAACCCACTCTCCTTGCAAAGGCTCCTCTGGGGCCTGTCCTGAAGCACCCCGCTCCCTGCATCCCTCCCTGGAACCCTGCAAAGGTATCACCTCTCACTGGGCCTTGGCAATGCACATCCCTGGCAGAGCCTTGGGAACAGGGAGGGGAGCCTGGCTTTGGAGTCACAGACCTGAGCCCAAAGCCCAGCTTCACTCATCCCAGCTGCCTGCGCTTGGATGGGTCACTGTAGCCATGTGCACTTCAGGGCTTCTGTGAAGATGGGAATGCAAGTCCCCACCTCACAGCATGTGATGACAATGAGTGACCAAACCTACACGGAAGGGCCTGACTCGGTGTCCGGCTCCTGGAATGCAGAGGTACCCTGAGGCTGGCAGTGCCCTCCCTCCTGGCCCATCACATTGAGAAGTAGGCCATGAACTCTGGGGCATCCCATTCTCTGTCAAGCTGTGCTTCCTGGTGATGAGACCAGAGGCCTCCATCCTCCCAGGAGGACAGAGCTTAGCTTAGGGGAAGAACTCAGAGGAGATGCCCAGCCAGGCTCCCTGTGTGTGCAGCTAGGCCCAGCACCACCACCACCACCATCATCATCCATCATCATCATCATCATCTTGATGGTTAATAATGAGTGTCAACTTGATTGGATTGAAGGATGTAAAGTATTGACCCTGGGTGTGTCTGAGAGGGTGCTGCTAACGGAGATTAACATTTGAGTCAGTAGGGGAAGGCAGACCTACCCTTAATCTGGGTGGGCACCATCTAATCAGCTGCCAGCACGGCCAGAATATAAAGCAGGCAGAAAAAAATGTGAAAAGGCTAGACTGGCTTAGCCTCCCAGCCTACATCTTTCTCCCGTGCTGGATGCTTCCTGCCCTCAAACATCAGACTCCAAGTCCTTCAGCTCTGGGACTTGGACTGGCTTCCTTGCTCCTCAGCTTGCGATGGCCTATTGTGGGACCTTGTGATCGTGTGAGTTAATGCTCCTTAATAAATCCCCCTTTAGGCCAGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAAAAATAAACCCCCCTCTCTCTCTATATATATATCTCCTGTTAGTTCTGGCCCTCTAGAGAATCCTGACTAATAATACAATCATCATCACGCCACCTTCTATTTGGGAAGCACTTTACAATTTGTGCCGAGTTTTGTCACACACTGCCTTGCTGACTTCATCACATCGCCAAAGCAGAATTCATGGATGAGGAAACTGAGGCACAGGGCGGATCCCCCCGCCCAGCCAGAGAGCAGCAGAGCCCTGCCAGGATCCCAGCTCTTCATGGACTTCTCTGCCTGCACACCCACTGCAAGGTCAGCCCCCAAGTGCTAGCCTCAGGGTCCTCTCGGGAACCTG 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GAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAAAGTCTATCAGCAGTTCTTAAAGTAAGACCTGGGGACCCCTGTGAACACGTGATACCCTTTCAGAGGTCTCACACCCAGCTAATTTTGCATTTTTAGTAGAGATGGGCTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCTGACCATCTTGGCCTCCCAAAGTGCTGGTGTACACGAGCCACTGCAGCTGGCCAGTTATTTTTTAAGTTTTTTAAAAAATTTTTAATTTTAATTTTTGTGGGTACATAGTAGGCATATATATTTATTATTGTTATTTTTAAATGAATTAATATTTTGAAATTTTCACACTTTAAATTTCTAAAATGGTAAATATAGATAAAGAAAATCCAGATGATTAAAAAATCTTTGTGATCCTCAATAATTTTTCAGAGTATAAAGGGATCAAATAGGCCAAAAAACTTGAGAACTGCTGAGTTAGATCATTCCAAGGGCCCACCCAGTGCTAAAAATGTCCACAGTTTCAAAAATGAAACTATTTATAGTTTCAGCCTTTTGGGCAACAACATCTCTTCCAAGTTTTGACCTTTGGTATAAAACAGGATGTCTCTGAATGTGTCCTGAATCAGCTTTTAGAGTCCCGGGGGTCTCTCATGTTCTGTCACTGAGACTCAGTAAACAGACTTCTGTACATACGGTATTGCTATAGAAAACGTGCACACGGTGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGTGCCAAGGCGGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGTGCCTGCAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGTGCGAGACTCCATCTCGAAAAAAAAGAATACATGCACACACATATGTCTGTAACACAGTAACGTCCTCCTCTGCTAGGTTTAATATGTTCATACTCTAGATGTGTAACCAGACAGTAAGGGCTTTGAGGGCAGGAACTGTGTTCTATAATAAACCAACGAATATGCCTGGCACCTGCCACAGGCTGCTGGGCTGCACACTCAGGCTTTGCCTGCCAGGATCTTACAGCCTCCCAGGGAAGATGAGAGCAACACGCGGACCAGTGAAGGGAAGCAGGATGCTCACTCGGGCCAGGTACTGCGTGTGTCACTTAGACATTCTGTAGAGGGTGACCAAGTGTCCACCATAACTTTTCCACAACTCTTCCAGATAAGTATTGACACCACCATTTTCCAGATGAGGAAATCGAGGCTGACAGGTGACATGGCTTGCTCAGGGCCAGTCTATGGCCAGAGCTGTCATTTTTCCCTCTCGTGCCATGCAAGTGCCAAATGGGGGCACAGGTGGAAAAGGTACCACAGCACACAGGAGGTGGTGTTATTTTGGGCTGAGAGGGGGACTTGGAAGGCTTCCTGAGGGAGGAGTCAGGGTCTGAACTGAGCTTTGGGTGGGAAGATGATTTGGAGCAGCTGACGATAGGAGGGAGACAGTGGGGAGGAGGGCTCCAGTCCGGACAGCCCTCCTGCATTCCCACCGGGGCCCCACAGGGCAGGACACGCGGTCCTGGGCTCACCGACATGGCCAGGTGCAGCGGGGTGTTGCCGTGCTCTCTGCGGGCATCCGCGTTGGCCCCGTGGGTCAGCAGCACTATGGCACAGTCGAAGCGGTTGCGCATCACCGCCACGTGCAGGGCCGTGTTCCCCGCGGAGCTGGTGCTGTTCACGTTGCAGCCCCGTTTCAGCAGCATGCGGGCCATCTGCGGGAGACGGTCAGGCTGAGTTAGCACAGGCACTCGGGGAGCTGCCGCACCCCGGGACACGTGGGCACTGCCACTTCTGCTCTGAGAGGCCTACAGGTACTGGGATGTTGGAAAGCGCTAGCAAGAGGATTCCAGGGGCAGGCCCCAGTTCTAGGGGGGCCTAGACTGCCTCCCATCCCATCAGCATCCCAAGACTAGGGACAAAAAGCCAAAGATGTGCTGACTGTTTTAAGAGGCTTCTGGTCCTTTCCTAGTGCCAACAGAACCCACTCTCCTTGCAAAGGCTCCTCTGGGGCCTGTCCTGAAGCACCCCGCTCCCTGCATCCCTCCCTGGAACCCTGCAAAGGTATCACCTCTCACTGGGCCTTGGCAATGCACATCCCTGGCAGAGCCTTGGGAACAGGGAGGGGAGCCTGGCTTTGGAGTCACAGACCTGAGCCCAAAGCCCAGCTTCACTCATCCCAGCTGCCTGCGCTTGGATGGGTCACTGTAGCCATGTGCACTTCAGGGCTTCTGTGAAGATGGGAATGCAAGTCCCCACCTCACAGCATGTGATGACAATGAGTGACCAAACCTACACGGAAGGGCCTGACTCGGTGTCCGGCTCCTGGAATGCAGAGGTACCCTGAGGCTGGCAGTGCCCTCCCTCCTGGCCCATCACATTGAGAAGTAGGCCATGAACTCTGGGGCATCCCATTCTCTGTCAAGCTGTGCTTCCTGGTGATGAGACCAGAGGCCTCCATCCTCCCAGGAGGACAGAGCTTAGCTTAGGGGAAGAACTCAGAGGAGATGCCCAGCCAGGCTCCCTGTGTGTGCAGCTAGGCCCAGCACCACCACCACCACCATCATCATCCATCATCATCATCATCATCTTGATGGTTAATAATGAGTGTCAACTTGATTGGATTGAAGGATGTAAAGTATTGACCCTGGGTGTGTCTGAGAGGGTGCTGCTAACGGAGATTAACATTTGAGTCAGTAGGGGAAGGCAGACCTACCCTTAATCTGGGTGGGCACCATCTAATCAGCTGCCAGCACGGCCAGAATATAAAGCAGGCAGAAAAAAATGTGAAAAGGCTAGACTGGCTTAGCCTCCCAGCCTACATCTTTCTCCCGTGCTGGATGCTTCCTGCCCTCAAACATCAGACTCCAAGTCCTTCAGCTCTGGGACTTGGACTGGCTTCCTTGCTCCTCAGCTTGCGATGGCCTATTGTGGGACCTTGTGATCGTGTGAGTTAATGCTCCTTAATAAATCCCCCTTTAGGCCAGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAAAAATAAACCCCCCTCTCTCTCTATATATATATCTCCTGTTAGTTCTGGCCCTCTAGAGAATCCTGACTAATAATACAATCATCATCACGCCACCTTCTATTTGGGAAGCACTTTACAATTTGTGCCGAGTTTTGTCACACACTGCCTTGCTGACTTCATCACATCGCCAAAGCAGAATTCATGGATGAGGAAACTGAGGCACAGGGCGGATCCCCCCGCCCAGCCAGAGAGCAGCAGAGCCCTGCCAGGATCCCAGCTCTTCATGGACTTCTCTGCCTGCACACCCACTGCAAGGTCAGCCCCCAAGTGCTAGCCTCAGGGTCCTCTCGGGAACCTG 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Task1_train_28817 | With a mutation on Chromosome 22 in gene PLA2G6 (phospholipase A2 group VI), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; PLA2G6-associated neurodegeneration | CGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAAAGTCTATCAGCAGTTCTTAAAGTAAGACCTGGGGACCCCTGTGAACACGTGATACCCTTTCAGAGGTCTCACACCCAGCTAATTTTGCATTTTTAGTAGAGATGGGCTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCTGACCATCTTGGCCTCCCAAAGTGCTGGTGTACACGAGCCACTGCAGCTGGCCAGTTATTTTTTAAGTTTTTTAAAAAATTTTTAATTTTAATTTTTGTGGGTACATAGTAGGCATATATATTTATTATTGTTATTTTTAAATGAATTAATATTTTGAAATTTTCACACTTTAAATTTCTAAAATGGTAAATATAGATAAAGAAAATCCAGATGATTAAAAAATCTTTGTGATCCTCAATAATTTTTCAGAGTATAAAGGGATCAAATAGGCCAAAAAACTTGAGAACTGCTGAGTTAGATCATTCCAAGGGCCCACCCAGTGCTAAAAATGTCCACAGTTTCAAAAATGAAACTATTTATAGTTTCAGCCTTTTGGGCAACAACATCTCTTCCAAGTTTTGACCTTTGGTATAAAACAGGATGTCTCTGAATGTGTCCTGAATCAGCTTTTAGAGTCCCGGGGGTCTCTCATGTTCTGTCACTGAGACTCAGTAAACAGACTTCTGTACATACGGTATTGCTATAGAAAACGTGCACACGGTGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGTGCCAAGGCGGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGTGCCTGCAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGTGCGAGACTCCATCTCGAAAAAAAAGAATACATGCACACACATATGTCTGTAACACAGTAACGTCCTCCTCTGCTAGGTTTAATATGTTCATACTCTAGATGTGTAACCAGACAGTAAGGGCTTTGAGGGCAGGAACTGTGTTCTATAATAAACCAACGAATATGCCTGGCACCTGCCACAGGCTGCTGGGCTGCACACTCAGGCTTTGCCTGCCAGGATCTTACAGCCTCCCAGGGAAGATGAGAGCAACACGCGGACCAGTGAAGGGAAGCAGGATGCTCACTCGGGCCAGGTACTGCGTGTGTCACTTAGACATTCTGTAGAGGGTGACCAAGTGTCCACCATAACTTTTCCACAACTCTTCCAGATAAGTATTGACACCACCATTTTCCAGATGAGGAAATCGAGGCTGACAGGTGACATGGCTTGCTCAGGGCCAGTCTATGGCCAGAGCTGTCATTTTTCCCTCTCGTGCCATGCAAGTGCCAAATGGGGGCACAGGTGGAAAAGGTACCACAGCACACAGGAGGTGGTGTTATTTTGGGCTGAGAGGGGGACTTGGAAGGCTTCCTGAGGGAGGAGTCAGGGTCTGAACTGAGCTTTGGGTGGGAAGATGATTTGGAGCAGCTGACGATAGGAGGGAGACAGTGGGGAGGAGGGCTCCAGTCCGGACAGCCCTCCTGCATTCCCACCGGGGCCCCACAGGGCAGGACACGCGGTCCTGGGCTCACCGACATGGCCAGGTGCAGCGGGGTGTTGCCGTGCTCTCCGCGGGCATCCGCGTTGGCCCCGTGGGTCAGCAGCACTATGGCACAGTCGAAGCGGTTGCGCATCACCGCCACGTGCAGGGCCGTGTTCCCCGCGGAGCTGGTGCTGTTCACGTTGCAGCCCCGTTTCAGCAGCATGCGGGCCATCTGCGGGAGACGGTCAGGCTGAGTTAGCACAGGCACTCGGGGAGCTGCCGCACCCCGGGACACGTGGGCACTGCCACTTCTGCTCTGAGAGGCCTACAGGTACTGGGATGTTGGAAAGCGCTAGCAAGAGGATTCCAGGGGCAGGCCCCAGTTCTAGGGGGGCCTAGACTGCCTCCCATCCCATCAGCATCCCAAGACTAGGGACAAAAAGCCAAAGATGTGCTGACTGTTTTAAGAGGCTTCTGGTCCTTTCCTAGTGCCAACAGAACCCACTCTCCTTGCAAAGGCTCCTCTGGGGCCTGTCCTGAAGCACCCCGCTCCCTGCATCCCTCCCTGGAACCCTGCAAAGGTATCACCTCTCACTGGGCCTTGGCAATGCACATCCCTGGCAGAGCCTTGGGAACAGGGAGGGGAGCCTGGCTTTGGAGTCACAGACCTGAGCCCAAAGCCCAGCTTCACTCATCCCAGCTGCCTGCGCTTGGATGGGTCACTGTAGCCATGTGCACTTCAGGGCTTCTGTGAAGATGGGAATGCAAGTCCCCACCTCACAGCATGTGATGACAATGAGTGACCAAACCTACACGGAAGGGCCTGACTCGGTGTCCGGCTCCTGGAATGCAGAGGTACCCTGAGGCTGGCAGTGCCCTCCCTCCTGGCCCATCACATTGAGAAGTAGGCCATGAACTCTGGGGCATCCCATTCTCTGTCAAGCTGTGCTTCCTGGTGATGAGACCAGAGGCCTCCATCCTCCCAGGAGGACAGAGCTTAGCTTAGGGGAAGAACTCAGAGGAGATGCCCAGCCAGGCTCCCTGTGTGTGCAGCTAGGCCCAGCACCACCACCACCACCATCATCATCCATCATCATCATCATCATCTTGATGGTTAATAATGAGTGTCAACTTGATTGGATTGAAGGATGTAAAGTATTGACCCTGGGTGTGTCTGAGAGGGTGCTGCTAACGGAGATTAACATTTGAGTCAGTAGGGGAAGGCAGACCTACCCTTAATCTGGGTGGGCACCATCTAATCAGCTGCCAGCACGGCCAGAATATAAAGCAGGCAGAAAAAAATGTGAAAAGGCTAGACTGGCTTAGCCTCCCAGCCTACATCTTTCTCCCGTGCTGGATGCTTCCTGCCCTCAAACATCAGACTCCAAGTCCTTCAGCTCTGGGACTTGGACTGGCTTCCTTGCTCCTCAGCTTGCGATGGCCTATTGTGGGACCTTGTGATCGTGTGAGTTAATGCTCCTTAATAAATCCCCCTTTAGGCCAGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAAAAATAAACCCCCCTCTCTCTCTATATATATATCTCCTGTTAGTTCTGGCCCTCTAGAGAATCCTGACTAATAATACAATCATCATCACGCCACCTTCTATTTGGGAAGCACTTTACAATTTGTGCCGAGTTTTGTCACACACTGCCTTGCTGACTTCATCACATCGCCAAAGCAGAATTCATGGATGAGGAAACTGAGGCACAGGGCGGATCCCCCCGCCCAGCCAGAGAGCAGCAGAGCCCTGCCAGGATCCCAGCTCTTCATGGACTTCTCTGCCTGCACACCCACTGCAAGGTCAGCCCCCAAGTGCTAGCCTCAGGGTCCTCTCGGGAACCTGCTTCCTGAGGGCCCTGAGGACCTGCGGGGCCCGGCCCCCTGCCCCACC 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CGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAAAGTCTATCAGCAGTTCTTAAAGTAAGACCTGGGGACCCCTGTGAACACGTGATACCCTTTCAGAGGTCTCACACCCAGCTAATTTTGCATTTTTAGTAGAGATGGGCTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCTGACCATCTTGGCCTCCCAAAGTGCTGGTGTACACGAGCCACTGCAGCTGGCCAGTTATTTTTTAAGTTTTTTAAAAAATTTTTAATTTTAATTTTTGTGGGTACATAGTAGGCATATATATTTATTATTGTTATTTTTAAATGAATTAATATTTTGAAATTTTCACACTTTAAATTTCTAAAATGGTAAATATAGATAAAGAAAATCCAGATGATTAAAAAATCTTTGTGATCCTCAATAATTTTTCAGAGTATAAAGGGATCAAATAGGCCAAAAAACTTGAGAACTGCTGAGTTAGATCATTCCAAGGGCCCACCCAGTGCTAAAAATGTCCACAGTTTCAAAAATGAAACTATTTATAGTTTCAGCCTTTTGGGCAACAACATCTCTTCCAAGTTTTGACCTTTGGTATAAAACAGGATGTCTCTGAATGTGTCCTGAATCAGCTTTTAGAGTCCCGGGGGTCTCTCATGTTCTGTCACTGAGACTCAGTAAACAGACTTCTGTACATACGGTATTGCTATAGAAAACGTGCACACGGTGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGTGCCAAGGCGGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGTGCCTGCAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGTGCGAGACTCCATCTCGAAAAAAAAGAATACATGCACACACATATGTCTGTAACACAGTAACGTCCTCCTCTGCTAGGTTTAATATGTTCATACTCTAGATGTGTAACCAGACAGTAAGGGCTTTGAGGGCAGGAACTGTGTTCTATAATAAACCAACGAATATGCCTGGCACCTGCCACAGGCTGCTGGGCTGCACACTCAGGCTTTGCCTGCCAGGATCTTACAGCCTCCCAGGGAAGATGAGAGCAACACGCGGACCAGTGAAGGGAAGCAGGATGCTCACTCGGGCCAGGTACTGCGTGTGTCACTTAGACATTCTGTAGAGGGTGACCAAGTGTCCACCATAACTTTTCCACAACTCTTCCAGATAAGTATTGACACCACCATTTTCCAGATGAGGAAATCGAGGCTGACAGGTGACATGGCTTGCTCAGGGCCAGTCTATGGCCAGAGCTGTCATTTTTCCCTCTCGTGCCATGCAAGTGCCAAATGGGGGCACAGGTGGAAAAGGTACCACAGCACACAGGAGGTGGTGTTATTTTGGGCTGAGAGGGGGACTTGGAAGGCTTCCTGAGGGAGGAGTCAGGGTCTGAACTGAGCTTTGGGTGGGAAGATGATTTGGAGCAGCTGACGATAGGAGGGAGACAGTGGGGAGGAGGGCTCCAGTCCGGACAGCCCTCCTGCATTCCCACCGGGGCCCCACAGGGCAGGACACGCGGTCCTGGGCTCACCGACATGGCCAGGTGCAGCGGGGTGTTGCCGTGCTCTCCGCGGGCATCCGCGTTGGCCCCGTGGGTCAGCAGCACTATGGCACAGTAGAAGCGGTTGCGCATCACCGCCACGTGCAGGGCCGTGTTCCCCGCGGAGCTGGTGCTGTTCACGTTGCAGCCCCGTTTCAGCAGCATGCGGGCCATCTGCGGGAGACGGTCAGGCTGAGTTAGCACAGGCACTCGGGGAGCTGCCGCACCCCGGGACACGTGGGCACTGCCACTTCTGCTCTGAGAGGCCTACAGGTACTGGGATGTTGGAAAGCGCTAGCAAGAGGATTCCAGGGGCAGGCCCCAGTTCTAGGGGGGCCTAGACTGCCTCCCATCCCATCAGCATCCCAAGACTAGGGACAAAAAGCCAAAGATGTGCTGACTGTTTTAAGAGGCTTCTGGTCCTTTCCTAGTGCCAACAGAACCCACTCTCCTTGCAAAGGCTCCTCTGGGGCCTGTCCTGAAGCACCCCGCTCCCTGCATCCCTCCCTGGAACCCTGCAAAGGTATCACCTCTCACTGGGCCTTGGCAATGCACATCCCTGGCAGAGCCTTGGGAACAGGGAGGGGAGCCTGGCTTTGGAGTCACAGACCTGAGCCCAAAGCCCAGCTTCACTCATCCCAGCTGCCTGCGCTTGGATGGGTCACTGTAGCCATGTGCACTTCAGGGCTTCTGTGAAGATGGGAATGCAAGTCCCCACCTCACAGCATGTGATGACAATGAGTGACCAAACCTACACGGAAGGGCCTGACTCGGTGTCCGGCTCCTGGAATGCAGAGGTACCCTGAGGCTGGCAGTGCCCTCCCTCCTGGCCCATCACATTGAGAAGTAGGCCATGAACTCTGGGGCATCCCATTCTCTGTCAAGCTGTGCTTCCTGGTGATGAGACCAGAGGCCTCCATCCTCCCAGGAGGACAGAGCTTAGCTTAGGGGAAGAACTCAGAGGAGATGCCCAGCCAGGCTCCCTGTGTGTGCAGCTAGGCCCAGCACCACCACCACCACCATCATCATCCATCATCATCATCATCATCTTGATGGTTAATAATGAGTGTCAACTTGATTGGATTGAAGGATGTAAAGTATTGACCCTGGGTGTGTCTGAGAGGGTGCTGCTAACGGAGATTAACATTTGAGTCAGTAGGGGAAGGCAGACCTACCCTTAATCTGGGTGGGCACCATCTAATCAGCTGCCAGCACGGCCAGAATATAAAGCAGGCAGAAAAAAATGTGAAAAGGCTAGACTGGCTTAGCCTCCCAGCCTACATCTTTCTCCCGTGCTGGATGCTTCCTGCCCTCAAACATCAGACTCCAAGTCCTTCAGCTCTGGGACTTGGACTGGCTTCCTTGCTCCTCAGCTTGCGATGGCCTATTGTGGGACCTTGTGATCGTGTGAGTTAATGCTCCTTAATAAATCCCCCTTTAGGCCAGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAAAAATAAACCCCCCTCTCTCTCTATATATATATCTCCTGTTAGTTCTGGCCCTCTAGAGAATCCTGACTAATAATACAATCATCATCACGCCACCTTCTATTTGGGAAGCACTTTACAATTTGTGCCGAGTTTTGTCACACACTGCCTTGCTGACTTCATCACATCGCCAAAGCAGAATTCATGGATGAGGAAACTGAGGCACAGGGCGGATCCCCCCGCCCAGCCAGAGAGCAGCAGAGCCCTGCCAGGATCCCAGCTCTTCATGGACTTCTCTGCCTGCACACCCACTGCAAGGTCAGCCCCCAAGTGCTAGCCTCAGGGTCCTCTCGGGAACCTGCTTCCTGAGGGCCCTGAGGACCTGCGGGGCCCGGCCCCCTGCCCCACC 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Task1_train_28818 | This mutation is located in gene PLA2G6 (phospholipase A2 group VI) on Chromosome 22. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Infantile neuroaxonal dystrophy | CGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAAAGTCTATCAGCAGTTCTTAAAGTAAGACCTGGGGACCCCTGTGAACACGTGATACCCTTTCAGAGGTCTCACACCCAGCTAATTTTGCATTTTTAGTAGAGATGGGCTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCTGACCATCTTGGCCTCCCAAAGTGCTGGTGTACACGAGCCACTGCAGCTGGCCAGTTATTTTTTAAGTTTTTTAAAAAATTTTTAATTTTAATTTTTGTGGGTACATAGTAGGCATATATATTTATTATTGTTATTTTTAAATGAATTAATATTTTGAAATTTTCACACTTTAAATTTCTAAAATGGTAAATATAGATAAAGAAAATCCAGATGATTAAAAAATCTTTGTGATCCTCAATAATTTTTCAGAGTATAAAGGGATCAAATAGGCCAAAAAACTTGAGAACTGCTGAGTTAGATCATTCCAAGGGCCCACCCAGTGCTAAAAATGTCCACAGTTTCAAAAATGAAACTATTTATAGTTTCAGCCTTTTGGGCAACAACATCTCTTCCAAGTTTTGACCTTTGGTATAAAACAGGATGTCTCTGAATGTGTCCTGAATCAGCTTTTAGAGTCCCGGGGGTCTCTCATGTTCTGTCACTGAGACTCAGTAAACAGACTTCTGTACATACGGTATTGCTATAGAAAACGTGCACACGGTGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGTGCCAAGGCGGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGTGCCTGCAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGTGCGAGACTCCATCTCGAAAAAAAAGAATACATGCACACACATATGTCTGTAACACAGTAACGTCCTCCTCTGCTAGGTTTAATATGTTCATACTCTAGATGTGTAACCAGACAGTAAGGGCTTTGAGGGCAGGAACTGTGTTCTATAATAAACCAACGAATATGCCTGGCACCTGCCACAGGCTGCTGGGCTGCACACTCAGGCTTTGCCTGCCAGGATCTTACAGCCTCCCAGGGAAGATGAGAGCAACACGCGGACCAGTGAAGGGAAGCAGGATGCTCACTCGGGCCAGGTACTGCGTGTGTCACTTAGACATTCTGTAGAGGGTGACCAAGTGTCCACCATAACTTTTCCACAACTCTTCCAGATAAGTATTGACACCACCATTTTCCAGATGAGGAAATCGAGGCTGACAGGTGACATGGCTTGCTCAGGGCCAGTCTATGGCCAGAGCTGTCATTTTTCCCTCTCGTGCCATGCAAGTGCCAAATGGGGGCACAGGTGGAAAAGGTACCACAGCACACAGGAGGTGGTGTTATTTTGGGCTGAGAGGGGGACTTGGAAGGCTTCCTGAGGGAGGAGTCAGGGTCTGAACTGAGCTTTGGGTGGGAAGATGATTTGGAGCAGCTGACGATAGGAGGGAGACAGTGGGGAGGAGGGCTCCAGTCCGGACAGCCCTCCTGCATTCCCACCGGGGCCCCACAGGGCAGGACACGCGGTCCTGGGCTCACCGACATGGCCAGGTGCAGCGGGGTGTTGCCGTGCTCTCCGCGGGCATCCGCGTTGGCCCCGTGGGTCAGCAGCACTATGGCACAGTCGAAGCGGTTGCGCATCACCGCCACGTGCAGGGCCGTGTTCCCCGCGGAGCTGGTGCTGTTCACGTTGCAGCCCCGTTTCAGCAGCATGCGGGCCATCTGCGGGAGACGGTCAGGCTGAGTTAGCACAGGCACTCGGGGAGCTGCCGCACCCCGGGACACGTGGGCACTGCCACTTCTGCTCTGAGAGGCCTACAGGTACTGGGATGTTGGAAAGCGCTAGCAAGAGGATTCCAGGGGCAGGCCCCAGTTCTAGGGGGGCCTAGACTGCCTCCCATCCCATCAGCATCCCAAGACTAGGGACAAAAAGCCAAAGATGTGCTGACTGTTTTAAGAGGCTTCTGGTCCTTTCCTAGTGCCAACAGAACCCACTCTCCTTGCAAAGGCTCCTCTGGGGCCTGTCCTGAAGCACCCCGCTCCCTGCATCCCTCCCTGGAACCCTGCAAAGGTATCACCTCTCACTGGGCCTTGGCAATGCACATCCCTGGCAGAGCCTTGGGAACAGGGAGGGGAGCCTGGCTTTGGAGTCACAGACCTGAGCCCAAAGCCCAGCTTCACTCATCCCAGCTGCCTGCGCTTGGATGGGTCACTGTAGCCATGTGCACTTCAGGGCTTCTGTGAAGATGGGAATGCAAGTCCCCACCTCACAGCATGTGATGACAATGAGTGACCAAACCTACACGGAAGGGCCTGACTCGGTGTCCGGCTCCTGGAATGCAGAGGTACCCTGAGGCTGGCAGTGCCCTCCCTCCTGGCCCATCACATTGAGAAGTAGGCCATGAACTCTGGGGCATCCCATTCTCTGTCAAGCTGTGCTTCCTGGTGATGAGACCAGAGGCCTCCATCCTCCCAGGAGGACAGAGCTTAGCTTAGGGGAAGAACTCAGAGGAGATGCCCAGCCAGGCTCCCTGTGTGTGCAGCTAGGCCCAGCACCACCACCACCACCATCATCATCCATCATCATCATCATCATCTTGATGGTTAATAATGAGTGTCAACTTGATTGGATTGAAGGATGTAAAGTATTGACCCTGGGTGTGTCTGAGAGGGTGCTGCTAACGGAGATTAACATTTGAGTCAGTAGGGGAAGGCAGACCTACCCTTAATCTGGGTGGGCACCATCTAATCAGCTGCCAGCACGGCCAGAATATAAAGCAGGCAGAAAAAAATGTGAAAAGGCTAGACTGGCTTAGCCTCCCAGCCTACATCTTTCTCCCGTGCTGGATGCTTCCTGCCCTCAAACATCAGACTCCAAGTCCTTCAGCTCTGGGACTTGGACTGGCTTCCTTGCTCCTCAGCTTGCGATGGCCTATTGTGGGACCTTGTGATCGTGTGAGTTAATGCTCCTTAATAAATCCCCCTTTAGGCCAGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAAAAATAAACCCCCCTCTCTCTCTATATATATATCTCCTGTTAGTTCTGGCCCTCTAGAGAATCCTGACTAATAATACAATCATCATCACGCCACCTTCTATTTGGGAAGCACTTTACAATTTGTGCCGAGTTTTGTCACACACTGCCTTGCTGACTTCATCACATCGCCAAAGCAGAATTCATGGATGAGGAAACTGAGGCACAGGGCGGATCCCCCCGCCCAGCCAGAGAGCAGCAGAGCCCTGCCAGGATCCCAGCTCTTCATGGACTTCTCTGCCTGCACACCCACTGCAAGGTCAGCCCCCAAGTGCTAGCCTCAGGGTCCTCTCGGGAACCTGCTTCCTGAGGGCCCTGAGGACCTGCGGGGCCCGGCCCCCTGCCCCACC 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CGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAAAGTCTATCAGCAGTTCTTAAAGTAAGACCTGGGGACCCCTGTGAACACGTGATACCCTTTCAGAGGTCTCACACCCAGCTAATTTTGCATTTTTAGTAGAGATGGGCTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCTGACCATCTTGGCCTCCCAAAGTGCTGGTGTACACGAGCCACTGCAGCTGGCCAGTTATTTTTTAAGTTTTTTAAAAAATTTTTAATTTTAATTTTTGTGGGTACATAGTAGGCATATATATTTATTATTGTTATTTTTAAATGAATTAATATTTTGAAATTTTCACACTTTAAATTTCTAAAATGGTAAATATAGATAAAGAAAATCCAGATGATTAAAAAATCTTTGTGATCCTCAATAATTTTTCAGAGTATAAAGGGATCAAATAGGCCAAAAAACTTGAGAACTGCTGAGTTAGATCATTCCAAGGGCCCACCCAGTGCTAAAAATGTCCACAGTTTCAAAAATGAAACTATTTATAGTTTCAGCCTTTTGGGCAACAACATCTCTTCCAAGTTTTGACCTTTGGTATAAAACAGGATGTCTCTGAATGTGTCCTGAATCAGCTTTTAGAGTCCCGGGGGTCTCTCATGTTCTGTCACTGAGACTCAGTAAACAGACTTCTGTACATACGGTATTGCTATAGAAAACGTGCACACGGTGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGTGCCAAGGCGGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGTGCCTGCAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGTGCGAGACTCCATCTCGAAAAAAAAGAATACATGCACACACATATGTCTGTAACACAGTAACGTCCTCCTCTGCTAGGTTTAATATGTTCATACTCTAGATGTGTAACCAGACAGTAAGGGCTTTGAGGGCAGGAACTGTGTTCTATAATAAACCAACGAATATGCCTGGCACCTGCCACAGGCTGCTGGGCTGCACACTCAGGCTTTGCCTGCCAGGATCTTACAGCCTCCCAGGGAAGATGAGAGCAACACGCGGACCAGTGAAGGGAAGCAGGATGCTCACTCGGGCCAGGTACTGCGTGTGTCACTTAGACATTCTGTAGAGGGTGACCAAGTGTCCACCATAACTTTTCCACAACTCTTCCAGATAAGTATTGACACCACCATTTTCCAGATGAGGAAATCGAGGCTGACAGGTGACATGGCTTGCTCAGGGCCAGTCTATGGCCAGAGCTGTCATTTTTCCCTCTCGTGCCATGCAAGTGCCAAATGGGGGCACAGGTGGAAAAGGTACCACAGCACACAGGAGGTGGTGTTATTTTGGGCTGAGAGGGGGACTTGGAAGGCTTCCTGAGGGAGGAGTCAGGGTCTGAACTGAGCTTTGGGTGGGAAGATGATTTGGAGCAGCTGACGATAGGAGGGAGACAGTGGGGAGGAGGGCTCCAGTCCGGACAGCCCTCCTGCATTCCCACCGGGGCCCCACAGGGCAGGACACGCGGTCCTGGGCTCACCGACATGGCCAGGTGCAGCGGGGTGTTGCCGTGCTCTCCGCGGGCATCCGCGTTGGCCCCGTGGGTCAGCAGCACTATGGCACAGTAGAAGCGGTTGCGCATCACCGCCACGTGCAGGGCCGTGTTCCCCGCGGAGCTGGTGCTGTTCACGTTGCAGCCCCGTTTCAGCAGCATGCGGGCCATCTGCGGGAGACGGTCAGGCTGAGTTAGCACAGGCACTCGGGGAGCTGCCGCACCCCGGGACACGTGGGCACTGCCACTTCTGCTCTGAGAGGCCTACAGGTACTGGGATGTTGGAAAGCGCTAGCAAGAGGATTCCAGGGGCAGGCCCCAGTTCTAGGGGGGCCTAGACTGCCTCCCATCCCATCAGCATCCCAAGACTAGGGACAAAAAGCCAAAGATGTGCTGACTGTTTTAAGAGGCTTCTGGTCCTTTCCTAGTGCCAACAGAACCCACTCTCCTTGCAAAGGCTCCTCTGGGGCCTGTCCTGAAGCACCCCGCTCCCTGCATCCCTCCCTGGAACCCTGCAAAGGTATCACCTCTCACTGGGCCTTGGCAATGCACATCCCTGGCAGAGCCTTGGGAACAGGGAGGGGAGCCTGGCTTTGGAGTCACAGACCTGAGCCCAAAGCCCAGCTTCACTCATCCCAGCTGCCTGCGCTTGGATGGGTCACTGTAGCCATGTGCACTTCAGGGCTTCTGTGAAGATGGGAATGCAAGTCCCCACCTCACAGCATGTGATGACAATGAGTGACCAAACCTACACGGAAGGGCCTGACTCGGTGTCCGGCTCCTGGAATGCAGAGGTACCCTGAGGCTGGCAGTGCCCTCCCTCCTGGCCCATCACATTGAGAAGTAGGCCATGAACTCTGGGGCATCCCATTCTCTGTCAAGCTGTGCTTCCTGGTGATGAGACCAGAGGCCTCCATCCTCCCAGGAGGACAGAGCTTAGCTTAGGGGAAGAACTCAGAGGAGATGCCCAGCCAGGCTCCCTGTGTGTGCAGCTAGGCCCAGCACCACCACCACCACCATCATCATCCATCATCATCATCATCATCTTGATGGTTAATAATGAGTGTCAACTTGATTGGATTGAAGGATGTAAAGTATTGACCCTGGGTGTGTCTGAGAGGGTGCTGCTAACGGAGATTAACATTTGAGTCAGTAGGGGAAGGCAGACCTACCCTTAATCTGGGTGGGCACCATCTAATCAGCTGCCAGCACGGCCAGAATATAAAGCAGGCAGAAAAAAATGTGAAAAGGCTAGACTGGCTTAGCCTCCCAGCCTACATCTTTCTCCCGTGCTGGATGCTTCCTGCCCTCAAACATCAGACTCCAAGTCCTTCAGCTCTGGGACTTGGACTGGCTTCCTTGCTCCTCAGCTTGCGATGGCCTATTGTGGGACCTTGTGATCGTGTGAGTTAATGCTCCTTAATAAATCCCCCTTTAGGCCAGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAAAAATAAACCCCCCTCTCTCTCTATATATATATCTCCTGTTAGTTCTGGCCCTCTAGAGAATCCTGACTAATAATACAATCATCATCACGCCACCTTCTATTTGGGAAGCACTTTACAATTTGTGCCGAGTTTTGTCACACACTGCCTTGCTGACTTCATCACATCGCCAAAGCAGAATTCATGGATGAGGAAACTGAGGCACAGGGCGGATCCCCCCGCCCAGCCAGAGAGCAGCAGAGCCCTGCCAGGATCCCAGCTCTTCATGGACTTCTCTGCCTGCACACCCACTGCAAGGTCAGCCCCCAAGTGCTAGCCTCAGGGTCCTCTCGGGAACCTGCTTCCTGAGGGCCCTGAGGACCTGCGGGGCCCGGCCCCCTGCCCCACC 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Task1_train_28819 | Located on Chromosome 22, this mutation impacts PLA2G6 (phospholipase A2 group VI). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Autosomal recessive Parkinson disease 14 | CGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAAAGTCTATCAGCAGTTCTTAAAGTAAGACCTGGGGACCCCTGTGAACACGTGATACCCTTTCAGAGGTCTCACACCCAGCTAATTTTGCATTTTTAGTAGAGATGGGCTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCTGACCATCTTGGCCTCCCAAAGTGCTGGTGTACACGAGCCACTGCAGCTGGCCAGTTATTTTTTAAGTTTTTTAAAAAATTTTTAATTTTAATTTTTGTGGGTACATAGTAGGCATATATATTTATTATTGTTATTTTTAAATGAATTAATATTTTGAAATTTTCACACTTTAAATTTCTAAAATGGTAAATATAGATAAAGAAAATCCAGATGATTAAAAAATCTTTGTGATCCTCAATAATTTTTCAGAGTATAAAGGGATCAAATAGGCCAAAAAACTTGAGAACTGCTGAGTTAGATCATTCCAAGGGCCCACCCAGTGCTAAAAATGTCCACAGTTTCAAAAATGAAACTATTTATAGTTTCAGCCTTTTGGGCAACAACATCTCTTCCAAGTTTTGACCTTTGGTATAAAACAGGATGTCTCTGAATGTGTCCTGAATCAGCTTTTAGAGTCCCGGGGGTCTCTCATGTTCTGTCACTGAGACTCAGTAAACAGACTTCTGTACATACGGTATTGCTATAGAAAACGTGCACACGGTGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGTGCCAAGGCGGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGTGCCTGCAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGTGCGAGACTCCATCTCGAAAAAAAAGAATACATGCACACACATATGTCTGTAACACAGTAACGTCCTCCTCTGCTAGGTTTAATATGTTCATACTCTAGATGTGTAACCAGACAGTAAGGGCTTTGAGGGCAGGAACTGTGTTCTATAATAAACCAACGAATATGCCTGGCACCTGCCACAGGCTGCTGGGCTGCACACTCAGGCTTTGCCTGCCAGGATCTTACAGCCTCCCAGGGAAGATGAGAGCAACACGCGGACCAGTGAAGGGAAGCAGGATGCTCACTCGGGCCAGGTACTGCGTGTGTCACTTAGACATTCTGTAGAGGGTGACCAAGTGTCCACCATAACTTTTCCACAACTCTTCCAGATAAGTATTGACACCACCATTTTCCAGATGAGGAAATCGAGGCTGACAGGTGACATGGCTTGCTCAGGGCCAGTCTATGGCCAGAGCTGTCATTTTTCCCTCTCGTGCCATGCAAGTGCCAAATGGGGGCACAGGTGGAAAAGGTACCACAGCACACAGGAGGTGGTGTTATTTTGGGCTGAGAGGGGGACTTGGAAGGCTTCCTGAGGGAGGAGTCAGGGTCTGAACTGAGCTTTGGGTGGGAAGATGATTTGGAGCAGCTGACGATAGGAGGGAGACAGTGGGGAGGAGGGCTCCAGTCCGGACAGCCCTCCTGCATTCCCACCGGGGCCCCACAGGGCAGGACACGCGGTCCTGGGCTCACCGACATGGCCAGGTGCAGCGGGGTGTTGCCGTGCTCTCCGCGGGCATCCGCGTTGGCCCCGTGGGTCAGCAGCACTATGGCACAGTCGAAGCGGTTGCGCATCACCGCCACGTGCAGGGCCGTGTTCCCCGCGGAGCTGGTGCTGTTCACGTTGCAGCCCCGTTTCAGCAGCATGCGGGCCATCTGCGGGAGACGGTCAGGCTGAGTTAGCACAGGCACTCGGGGAGCTGCCGCACCCCGGGACACGTGGGCACTGCCACTTCTGCTCTGAGAGGCCTACAGGTACTGGGATGTTGGAAAGCGCTAGCAAGAGGATTCCAGGGGCAGGCCCCAGTTCTAGGGGGGCCTAGACTGCCTCCCATCCCATCAGCATCCCAAGACTAGGGACAAAAAGCCAAAGATGTGCTGACTGTTTTAAGAGGCTTCTGGTCCTTTCCTAGTGCCAACAGAACCCACTCTCCTTGCAAAGGCTCCTCTGGGGCCTGTCCTGAAGCACCCCGCTCCCTGCATCCCTCCCTGGAACCCTGCAAAGGTATCACCTCTCACTGGGCCTTGGCAATGCACATCCCTGGCAGAGCCTTGGGAACAGGGAGGGGAGCCTGGCTTTGGAGTCACAGACCTGAGCCCAAAGCCCAGCTTCACTCATCCCAGCTGCCTGCGCTTGGATGGGTCACTGTAGCCATGTGCACTTCAGGGCTTCTGTGAAGATGGGAATGCAAGTCCCCACCTCACAGCATGTGATGACAATGAGTGACCAAACCTACACGGAAGGGCCTGACTCGGTGTCCGGCTCCTGGAATGCAGAGGTACCCTGAGGCTGGCAGTGCCCTCCCTCCTGGCCCATCACATTGAGAAGTAGGCCATGAACTCTGGGGCATCCCATTCTCTGTCAAGCTGTGCTTCCTGGTGATGAGACCAGAGGCCTCCATCCTCCCAGGAGGACAGAGCTTAGCTTAGGGGAAGAACTCAGAGGAGATGCCCAGCCAGGCTCCCTGTGTGTGCAGCTAGGCCCAGCACCACCACCACCACCATCATCATCCATCATCATCATCATCATCTTGATGGTTAATAATGAGTGTCAACTTGATTGGATTGAAGGATGTAAAGTATTGACCCTGGGTGTGTCTGAGAGGGTGCTGCTAACGGAGATTAACATTTGAGTCAGTAGGGGAAGGCAGACCTACCCTTAATCTGGGTGGGCACCATCTAATCAGCTGCCAGCACGGCCAGAATATAAAGCAGGCAGAAAAAAATGTGAAAAGGCTAGACTGGCTTAGCCTCCCAGCCTACATCTTTCTCCCGTGCTGGATGCTTCCTGCCCTCAAACATCAGACTCCAAGTCCTTCAGCTCTGGGACTTGGACTGGCTTCCTTGCTCCTCAGCTTGCGATGGCCTATTGTGGGACCTTGTGATCGTGTGAGTTAATGCTCCTTAATAAATCCCCCTTTAGGCCAGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAAAAATAAACCCCCCTCTCTCTCTATATATATATCTCCTGTTAGTTCTGGCCCTCTAGAGAATCCTGACTAATAATACAATCATCATCACGCCACCTTCTATTTGGGAAGCACTTTACAATTTGTGCCGAGTTTTGTCACACACTGCCTTGCTGACTTCATCACATCGCCAAAGCAGAATTCATGGATGAGGAAACTGAGGCACAGGGCGGATCCCCCCGCCCAGCCAGAGAGCAGCAGAGCCCTGCCAGGATCCCAGCTCTTCATGGACTTCTCTGCCTGCACACCCACTGCAAGGTCAGCCCCCAAGTGCTAGCCTCAGGGTCCTCTCGGGAACCTGCTTCCTGAGGGCCCTGAGGACCTGCGGGGCCCGGCCCCCTGCCCCACC 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CGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAAAGTCTATCAGCAGTTCTTAAAGTAAGACCTGGGGACCCCTGTGAACACGTGATACCCTTTCAGAGGTCTCACACCCAGCTAATTTTGCATTTTTAGTAGAGATGGGCTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCTGACCATCTTGGCCTCCCAAAGTGCTGGTGTACACGAGCCACTGCAGCTGGCCAGTTATTTTTTAAGTTTTTTAAAAAATTTTTAATTTTAATTTTTGTGGGTACATAGTAGGCATATATATTTATTATTGTTATTTTTAAATGAATTAATATTTTGAAATTTTCACACTTTAAATTTCTAAAATGGTAAATATAGATAAAGAAAATCCAGATGATTAAAAAATCTTTGTGATCCTCAATAATTTTTCAGAGTATAAAGGGATCAAATAGGCCAAAAAACTTGAGAACTGCTGAGTTAGATCATTCCAAGGGCCCACCCAGTGCTAAAAATGTCCACAGTTTCAAAAATGAAACTATTTATAGTTTCAGCCTTTTGGGCAACAACATCTCTTCCAAGTTTTGACCTTTGGTATAAAACAGGATGTCTCTGAATGTGTCCTGAATCAGCTTTTAGAGTCCCGGGGGTCTCTCATGTTCTGTCACTGAGACTCAGTAAACAGACTTCTGTACATACGGTATTGCTATAGAAAACGTGCACACGGTGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGTGCCAAGGCGGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGTGCCTGCAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGTGCGAGACTCCATCTCGAAAAAAAAGAATACATGCACACACATATGTCTGTAACACAGTAACGTCCTCCTCTGCTAGGTTTAATATGTTCATACTCTAGATGTGTAACCAGACAGTAAGGGCTTTGAGGGCAGGAACTGTGTTCTATAATAAACCAACGAATATGCCTGGCACCTGCCACAGGCTGCTGGGCTGCACACTCAGGCTTTGCCTGCCAGGATCTTACAGCCTCCCAGGGAAGATGAGAGCAACACGCGGACCAGTGAAGGGAAGCAGGATGCTCACTCGGGCCAGGTACTGCGTGTGTCACTTAGACATTCTGTAGAGGGTGACCAAGTGTCCACCATAACTTTTCCACAACTCTTCCAGATAAGTATTGACACCACCATTTTCCAGATGAGGAAATCGAGGCTGACAGGTGACATGGCTTGCTCAGGGCCAGTCTATGGCCAGAGCTGTCATTTTTCCCTCTCGTGCCATGCAAGTGCCAAATGGGGGCACAGGTGGAAAAGGTACCACAGCACACAGGAGGTGGTGTTATTTTGGGCTGAGAGGGGGACTTGGAAGGCTTCCTGAGGGAGGAGTCAGGGTCTGAACTGAGCTTTGGGTGGGAAGATGATTTGGAGCAGCTGACGATAGGAGGGAGACAGTGGGGAGGAGGGCTCCAGTCCGGACAGCCCTCCTGCATTCCCACCGGGGCCCCACAGGGCAGGACACGCGGTCCTGGGCTCACCGACATGGCCAGGTGCAGCGGGGTGTTGCCGTGCTCTCCGCGGGCATCCGCGTTGGCCCCGTGGGTCAGCAGCACTATGGCACAGTAGAAGCGGTTGCGCATCACCGCCACGTGCAGGGCCGTGTTCCCCGCGGAGCTGGTGCTGTTCACGTTGCAGCCCCGTTTCAGCAGCATGCGGGCCATCTGCGGGAGACGGTCAGGCTGAGTTAGCACAGGCACTCGGGGAGCTGCCGCACCCCGGGACACGTGGGCACTGCCACTTCTGCTCTGAGAGGCCTACAGGTACTGGGATGTTGGAAAGCGCTAGCAAGAGGATTCCAGGGGCAGGCCCCAGTTCTAGGGGGGCCTAGACTGCCTCCCATCCCATCAGCATCCCAAGACTAGGGACAAAAAGCCAAAGATGTGCTGACTGTTTTAAGAGGCTTCTGGTCCTTTCCTAGTGCCAACAGAACCCACTCTCCTTGCAAAGGCTCCTCTGGGGCCTGTCCTGAAGCACCCCGCTCCCTGCATCCCTCCCTGGAACCCTGCAAAGGTATCACCTCTCACTGGGCCTTGGCAATGCACATCCCTGGCAGAGCCTTGGGAACAGGGAGGGGAGCCTGGCTTTGGAGTCACAGACCTGAGCCCAAAGCCCAGCTTCACTCATCCCAGCTGCCTGCGCTTGGATGGGTCACTGTAGCCATGTGCACTTCAGGGCTTCTGTGAAGATGGGAATGCAAGTCCCCACCTCACAGCATGTGATGACAATGAGTGACCAAACCTACACGGAAGGGCCTGACTCGGTGTCCGGCTCCTGGAATGCAGAGGTACCCTGAGGCTGGCAGTGCCCTCCCTCCTGGCCCATCACATTGAGAAGTAGGCCATGAACTCTGGGGCATCCCATTCTCTGTCAAGCTGTGCTTCCTGGTGATGAGACCAGAGGCCTCCATCCTCCCAGGAGGACAGAGCTTAGCTTAGGGGAAGAACTCAGAGGAGATGCCCAGCCAGGCTCCCTGTGTGTGCAGCTAGGCCCAGCACCACCACCACCACCATCATCATCCATCATCATCATCATCATCTTGATGGTTAATAATGAGTGTCAACTTGATTGGATTGAAGGATGTAAAGTATTGACCCTGGGTGTGTCTGAGAGGGTGCTGCTAACGGAGATTAACATTTGAGTCAGTAGGGGAAGGCAGACCTACCCTTAATCTGGGTGGGCACCATCTAATCAGCTGCCAGCACGGCCAGAATATAAAGCAGGCAGAAAAAAATGTGAAAAGGCTAGACTGGCTTAGCCTCCCAGCCTACATCTTTCTCCCGTGCTGGATGCTTCCTGCCCTCAAACATCAGACTCCAAGTCCTTCAGCTCTGGGACTTGGACTGGCTTCCTTGCTCCTCAGCTTGCGATGGCCTATTGTGGGACCTTGTGATCGTGTGAGTTAATGCTCCTTAATAAATCCCCCTTTAGGCCAGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAAAAATAAACCCCCCTCTCTCTCTATATATATATCTCCTGTTAGTTCTGGCCCTCTAGAGAATCCTGACTAATAATACAATCATCATCACGCCACCTTCTATTTGGGAAGCACTTTACAATTTGTGCCGAGTTTTGTCACACACTGCCTTGCTGACTTCATCACATCGCCAAAGCAGAATTCATGGATGAGGAAACTGAGGCACAGGGCGGATCCCCCCGCCCAGCCAGAGAGCAGCAGAGCCCTGCCAGGATCCCAGCTCTTCATGGACTTCTCTGCCTGCACACCCACTGCAAGGTCAGCCCCCAAGTGCTAGCCTCAGGGTCCTCTCGGGAACCTGCTTCCTGAGGGCCCTGAGGACCTGCGGGGCCCGGCCCCCTGCCCCACC 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Task1_train_28820 | This mutation occurs in PLA2G6 (phospholipase A2 group VI) on Chromosome 22. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Infantile neuroaxonal dystrophy | CGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAAAGTCTATCAGCAGTTCTTAAAGTAAGACCTGGGGACCCCTGTGAACACGTGATACCCTTTCAGAGGTCTCACACCCAGCTAATTTTGCATTTTTAGTAGAGATGGGCTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCTGACCATCTTGGCCTCCCAAAGTGCTGGTGTACACGAGCCACTGCAGCTGGCCAGTTATTTTTTAAGTTTTTTAAAAAATTTTTAATTTTAATTTTTGTGGGTACATAGTAGGCATATATATTTATTATTGTTATTTTTAAATGAATTAATATTTTGAAATTTTCACACTTTAAATTTCTAAAATGGTAAATATAGATAAAGAAAATCCAGATGATTAAAAAATCTTTGTGATCCTCAATAATTTTTCAGAGTATAAAGGGATCAAATAGGCCAAAAAACTTGAGAACTGCTGAGTTAGATCATTCCAAGGGCCCACCCAGTGCTAAAAATGTCCACAGTTTCAAAAATGAAACTATTTATAGTTTCAGCCTTTTGGGCAACAACATCTCTTCCAAGTTTTGACCTTTGGTATAAAACAGGATGTCTCTGAATGTGTCCTGAATCAGCTTTTAGAGTCCCGGGGGTCTCTCATGTTCTGTCACTGAGACTCAGTAAACAGACTTCTGTACATACGGTATTGCTATAGAAAACGTGCACACGGTGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGTGCCAAGGCGGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGTGCCTGCAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGTGCGAGACTCCATCTCGAAAAAAAAGAATACATGCACACACATATGTCTGTAACACAGTAACGTCCTCCTCTGCTAGGTTTAATATGTTCATACTCTAGATGTGTAACCAGACAGTAAGGGCTTTGAGGGCAGGAACTGTGTTCTATAATAAACCAACGAATATGCCTGGCACCTGCCACAGGCTGCTGGGCTGCACACTCAGGCTTTGCCTGCCAGGATCTTACAGCCTCCCAGGGAAGATGAGAGCAACACGCGGACCAGTGAAGGGAAGCAGGATGCTCACTCGGGCCAGGTACTGCGTGTGTCACTTAGACATTCTGTAGAGGGTGACCAAGTGTCCACCATAACTTTTCCACAACTCTTCCAGATAAGTATTGACACCACCATTTTCCAGATGAGGAAATCGAGGCTGACAGGTGACATGGCTTGCTCAGGGCCAGTCTATGGCCAGAGCTGTCATTTTTCCCTCTCGTGCCATGCAAGTGCCAAATGGGGGCACAGGTGGAAAAGGTACCACAGCACACAGGAGGTGGTGTTATTTTGGGCTGAGAGGGGGACTTGGAAGGCTTCCTGAGGGAGGAGTCAGGGTCTGAACTGAGCTTTGGGTGGGAAGATGATTTGGAGCAGCTGACGATAGGAGGGAGACAGTGGGGAGGAGGGCTCCAGTCCGGACAGCCCTCCTGCATTCCCACCGGGGCCCCACAGGGCAGGACACGCGGTCCTGGGCTCACCGACATGGCCAGGTGCAGCGGGGTGTTGCCGTGCTCTCCGCGGGCATCCGCGTTGGCCCCGTGGGTCAGCAGCACTATGGCACAGTCGAAGCGGTTGCGCATCACCGCCACGTGCAGGGCCGTGTTCCCCGCGGAGCTGGTGCTGTTCACGTTGCAGCCCCGTTTCAGCAGCATGCGGGCCATCTGCGGGAGACGGTCAGGCTGAGTTAGCACAGGCACTCGGGGAGCTGCCGCACCCCGGGACACGTGGGCACTGCCACTTCTGCTCTGAGAGGCCTACAGGTACTGGGATGTTGGAAAGCGCTAGCAAGAGGATTCCAGGGGCAGGCCCCAGTTCTAGGGGGGCCTAGACTGCCTCCCATCCCATCAGCATCCCAAGACTAGGGACAAAAAGCCAAAGATGTGCTGACTGTTTTAAGAGGCTTCTGGTCCTTTCCTAGTGCCAACAGAACCCACTCTCCTTGCAAAGGCTCCTCTGGGGCCTGTCCTGAAGCACCCCGCTCCCTGCATCCCTCCCTGGAACCCTGCAAAGGTATCACCTCTCACTGGGCCTTGGCAATGCACATCCCTGGCAGAGCCTTGGGAACAGGGAGGGGAGCCTGGCTTTGGAGTCACAGACCTGAGCCCAAAGCCCAGCTTCACTCATCCCAGCTGCCTGCGCTTGGATGGGTCACTGTAGCCATGTGCACTTCAGGGCTTCTGTGAAGATGGGAATGCAAGTCCCCACCTCACAGCATGTGATGACAATGAGTGACCAAACCTACACGGAAGGGCCTGACTCGGTGTCCGGCTCCTGGAATGCAGAGGTACCCTGAGGCTGGCAGTGCCCTCCCTCCTGGCCCATCACATTGAGAAGTAGGCCATGAACTCTGGGGCATCCCATTCTCTGTCAAGCTGTGCTTCCTGGTGATGAGACCAGAGGCCTCCATCCTCCCAGGAGGACAGAGCTTAGCTTAGGGGAAGAACTCAGAGGAGATGCCCAGCCAGGCTCCCTGTGTGTGCAGCTAGGCCCAGCACCACCACCACCACCATCATCATCCATCATCATCATCATCATCTTGATGGTTAATAATGAGTGTCAACTTGATTGGATTGAAGGATGTAAAGTATTGACCCTGGGTGTGTCTGAGAGGGTGCTGCTAACGGAGATTAACATTTGAGTCAGTAGGGGAAGGCAGACCTACCCTTAATCTGGGTGGGCACCATCTAATCAGCTGCCAGCACGGCCAGAATATAAAGCAGGCAGAAAAAAATGTGAAAAGGCTAGACTGGCTTAGCCTCCCAGCCTACATCTTTCTCCCGTGCTGGATGCTTCCTGCCCTCAAACATCAGACTCCAAGTCCTTCAGCTCTGGGACTTGGACTGGCTTCCTTGCTCCTCAGCTTGCGATGGCCTATTGTGGGACCTTGTGATCGTGTGAGTTAATGCTCCTTAATAAATCCCCCTTTAGGCCAGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAAAAATAAACCCCCCTCTCTCTCTATATATATATCTCCTGTTAGTTCTGGCCCTCTAGAGAATCCTGACTAATAATACAATCATCATCACGCCACCTTCTATTTGGGAAGCACTTTACAATTTGTGCCGAGTTTTGTCACACACTGCCTTGCTGACTTCATCACATCGCCAAAGCAGAATTCATGGATGAGGAAACTGAGGCACAGGGCGGATCCCCCCGCCCAGCCAGAGAGCAGCAGAGCCCTGCCAGGATCCCAGCTCTTCATGGACTTCTCTGCCTGCACACCCACTGCAAGGTCAGCCCCCAAGTGCTAGCCTCAGGGTCCTCTCGGGAACCTGCTTCCTGAGGGCCCTGAGGACCTGCGGGGCCCGGCCCCCTGCCCCACC 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CGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAAAGTCTATCAGCAGTTCTTAAAGTAAGACCTGGGGACCCCTGTGAACACGTGATACCCTTTCAGAGGTCTCACACCCAGCTAATTTTGCATTTTTAGTAGAGATGGGCTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCTGACCATCTTGGCCTCCCAAAGTGCTGGTGTACACGAGCCACTGCAGCTGGCCAGTTATTTTTTAAGTTTTTTAAAAAATTTTTAATTTTAATTTTTGTGGGTACATAGTAGGCATATATATTTATTATTGTTATTTTTAAATGAATTAATATTTTGAAATTTTCACACTTTAAATTTCTAAAATGGTAAATATAGATAAAGAAAATCCAGATGATTAAAAAATCTTTGTGATCCTCAATAATTTTTCAGAGTATAAAGGGATCAAATAGGCCAAAAAACTTGAGAACTGCTGAGTTAGATCATTCCAAGGGCCCACCCAGTGCTAAAAATGTCCACAGTTTCAAAAATGAAACTATTTATAGTTTCAGCCTTTTGGGCAACAACATCTCTTCCAAGTTTTGACCTTTGGTATAAAACAGGATGTCTCTGAATGTGTCCTGAATCAGCTTTTAGAGTCCCGGGGGTCTCTCATGTTCTGTCACTGAGACTCAGTAAACAGACTTCTGTACATACGGTATTGCTATAGAAAACGTGCACACGGTGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGTGCCAAGGCGGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGTGCCTGCAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGTGCGAGACTCCATCTCGAAAAAAAAGAATACATGCACACACATATGTCTGTAACACAGTAACGTCCTCCTCTGCTAGGTTTAATATGTTCATACTCTAGATGTGTAACCAGACAGTAAGGGCTTTGAGGGCAGGAACTGTGTTCTATAATAAACCAACGAATATGCCTGGCACCTGCCACAGGCTGCTGGGCTGCACACTCAGGCTTTGCCTGCCAGGATCTTACAGCCTCCCAGGGAAGATGAGAGCAACACGCGGACCAGTGAAGGGAAGCAGGATGCTCACTCGGGCCAGGTACTGCGTGTGTCACTTAGACATTCTGTAGAGGGTGACCAAGTGTCCACCATAACTTTTCCACAACTCTTCCAGATAAGTATTGACACCACCATTTTCCAGATGAGGAAATCGAGGCTGACAGGTGACATGGCTTGCTCAGGGCCAGTCTATGGCCAGAGCTGTCATTTTTCCCTCTCGTGCCATGCAAGTGCCAAATGGGGGCACAGGTGGAAAAGGTACCACAGCACACAGGAGGTGGTGTTATTTTGGGCTGAGAGGGGGACTTGGAAGGCTTCCTGAGGGAGGAGTCAGGGTCTGAACTGAGCTTTGGGTGGGAAGATGATTTGGAGCAGCTGACGATAGGAGGGAGACAGTGGGGAGGAGGGCTCCAGTCCGGACAGCCCTCCTGCATTCCCACCGGGGCCCCACAGGGCAGGACACGCGGTCCTGGGCTCACCGACATGGCCAGGTGCAGCGGGGTGTTGCCGTGCTCTCCGCGGGCATCCGCGTTGGCCCCGTGGGTCAGCAGCACTATGGCACAGTAGAAGCGGTTGCGCATCACCGCCACGTGCAGGGCCGTGTTCCCCGCGGAGCTGGTGCTGTTCACGTTGCAGCCCCGTTTCAGCAGCATGCGGGCCATCTGCGGGAGACGGTCAGGCTGAGTTAGCACAGGCACTCGGGGAGCTGCCGCACCCCGGGACACGTGGGCACTGCCACTTCTGCTCTGAGAGGCCTACAGGTACTGGGATGTTGGAAAGCGCTAGCAAGAGGATTCCAGGGGCAGGCCCCAGTTCTAGGGGGGCCTAGACTGCCTCCCATCCCATCAGCATCCCAAGACTAGGGACAAAAAGCCAAAGATGTGCTGACTGTTTTAAGAGGCTTCTGGTCCTTTCCTAGTGCCAACAGAACCCACTCTCCTTGCAAAGGCTCCTCTGGGGCCTGTCCTGAAGCACCCCGCTCCCTGCATCCCTCCCTGGAACCCTGCAAAGGTATCACCTCTCACTGGGCCTTGGCAATGCACATCCCTGGCAGAGCCTTGGGAACAGGGAGGGGAGCCTGGCTTTGGAGTCACAGACCTGAGCCCAAAGCCCAGCTTCACTCATCCCAGCTGCCTGCGCTTGGATGGGTCACTGTAGCCATGTGCACTTCAGGGCTTCTGTGAAGATGGGAATGCAAGTCCCCACCTCACAGCATGTGATGACAATGAGTGACCAAACCTACACGGAAGGGCCTGACTCGGTGTCCGGCTCCTGGAATGCAGAGGTACCCTGAGGCTGGCAGTGCCCTCCCTCCTGGCCCATCACATTGAGAAGTAGGCCATGAACTCTGGGGCATCCCATTCTCTGTCAAGCTGTGCTTCCTGGTGATGAGACCAGAGGCCTCCATCCTCCCAGGAGGACAGAGCTTAGCTTAGGGGAAGAACTCAGAGGAGATGCCCAGCCAGGCTCCCTGTGTGTGCAGCTAGGCCCAGCACCACCACCACCACCATCATCATCCATCATCATCATCATCATCTTGATGGTTAATAATGAGTGTCAACTTGATTGGATTGAAGGATGTAAAGTATTGACCCTGGGTGTGTCTGAGAGGGTGCTGCTAACGGAGATTAACATTTGAGTCAGTAGGGGAAGGCAGACCTACCCTTAATCTGGGTGGGCACCATCTAATCAGCTGCCAGCACGGCCAGAATATAAAGCAGGCAGAAAAAAATGTGAAAAGGCTAGACTGGCTTAGCCTCCCAGCCTACATCTTTCTCCCGTGCTGGATGCTTCCTGCCCTCAAACATCAGACTCCAAGTCCTTCAGCTCTGGGACTTGGACTGGCTTCCTTGCTCCTCAGCTTGCGATGGCCTATTGTGGGACCTTGTGATCGTGTGAGTTAATGCTCCTTAATAAATCCCCCTTTAGGCCAGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAAAAATAAACCCCCCTCTCTCTCTATATATATATCTCCTGTTAGTTCTGGCCCTCTAGAGAATCCTGACTAATAATACAATCATCATCACGCCACCTTCTATTTGGGAAGCACTTTACAATTTGTGCCGAGTTTTGTCACACACTGCCTTGCTGACTTCATCACATCGCCAAAGCAGAATTCATGGATGAGGAAACTGAGGCACAGGGCGGATCCCCCCGCCCAGCCAGAGAGCAGCAGAGCCCTGCCAGGATCCCAGCTCTTCATGGACTTCTCTGCCTGCACACCCACTGCAAGGTCAGCCCCCAAGTGCTAGCCTCAGGGTCCTCTCGGGAACCTGCTTCCTGAGGGCCCTGAGGACCTGCGGGGCCCGGCCCCCTGCCCCACC 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Task1_train_28821 | The gene PLA2G6 (phospholipase A2 group VI) on Chromosome 22 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Neurodegeneration with brain iron accumulation 2B | CGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAAAGTCTATCAGCAGTTCTTAAAGTAAGACCTGGGGACCCCTGTGAACACGTGATACCCTTTCAGAGGTCTCACACCCAGCTAATTTTGCATTTTTAGTAGAGATGGGCTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCTGACCATCTTGGCCTCCCAAAGTGCTGGTGTACACGAGCCACTGCAGCTGGCCAGTTATTTTTTAAGTTTTTTAAAAAATTTTTAATTTTAATTTTTGTGGGTACATAGTAGGCATATATATTTATTATTGTTATTTTTAAATGAATTAATATTTTGAAATTTTCACACTTTAAATTTCTAAAATGGTAAATATAGATAAAGAAAATCCAGATGATTAAAAAATCTTTGTGATCCTCAATAATTTTTCAGAGTATAAAGGGATCAAATAGGCCAAAAAACTTGAGAACTGCTGAGTTAGATCATTCCAAGGGCCCACCCAGTGCTAAAAATGTCCACAGTTTCAAAAATGAAACTATTTATAGTTTCAGCCTTTTGGGCAACAACATCTCTTCCAAGTTTTGACCTTTGGTATAAAACAGGATGTCTCTGAATGTGTCCTGAATCAGCTTTTAGAGTCCCGGGGGTCTCTCATGTTCTGTCACTGAGACTCAGTAAACAGACTTCTGTACATACGGTATTGCTATAGAAAACGTGCACACGGTGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGTGCCAAGGCGGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGTGCCTGCAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGTGCGAGACTCCATCTCGAAAAAAAAGAATACATGCACACACATATGTCTGTAACACAGTAACGTCCTCCTCTGCTAGGTTTAATATGTTCATACTCTAGATGTGTAACCAGACAGTAAGGGCTTTGAGGGCAGGAACTGTGTTCTATAATAAACCAACGAATATGCCTGGCACCTGCCACAGGCTGCTGGGCTGCACACTCAGGCTTTGCCTGCCAGGATCTTACAGCCTCCCAGGGAAGATGAGAGCAACACGCGGACCAGTGAAGGGAAGCAGGATGCTCACTCGGGCCAGGTACTGCGTGTGTCACTTAGACATTCTGTAGAGGGTGACCAAGTGTCCACCATAACTTTTCCACAACTCTTCCAGATAAGTATTGACACCACCATTTTCCAGATGAGGAAATCGAGGCTGACAGGTGACATGGCTTGCTCAGGGCCAGTCTATGGCCAGAGCTGTCATTTTTCCCTCTCGTGCCATGCAAGTGCCAAATGGGGGCACAGGTGGAAAAGGTACCACAGCACACAGGAGGTGGTGTTATTTTGGGCTGAGAGGGGGACTTGGAAGGCTTCCTGAGGGAGGAGTCAGGGTCTGAACTGAGCTTTGGGTGGGAAGATGATTTGGAGCAGCTGACGATAGGAGGGAGACAGTGGGGAGGAGGGCTCCAGTCCGGACAGCCCTCCTGCATTCCCACCGGGGCCCCACAGGGCAGGACACGCGGTCCTGGGCTCACCGACATGGCCAGGTGCAGCGGGGTGTTGCCGTGCTCTCCGCGGGCATCCGCGTTGGCCCCGTGGGTCAGCAGCACTATGGCACAGTCGAAGCGGTTGCGCATCACCGCCACGTGCAGGGCCGTGTTCCCCGCGGAGCTGGTGCTGTTCACGTTGCAGCCCCGTTTCAGCAGCATGCGGGCCATCTGCGGGAGACGGTCAGGCTGAGTTAGCACAGGCACTCGGGGAGCTGCCGCACCCCGGGACACGTGGGCACTGCCACTTCTGCTCTGAGAGGCCTACAGGTACTGGGATGTTGGAAAGCGCTAGCAAGAGGATTCCAGGGGCAGGCCCCAGTTCTAGGGGGGCCTAGACTGCCTCCCATCCCATCAGCATCCCAAGACTAGGGACAAAAAGCCAAAGATGTGCTGACTGTTTTAAGAGGCTTCTGGTCCTTTCCTAGTGCCAACAGAACCCACTCTCCTTGCAAAGGCTCCTCTGGGGCCTGTCCTGAAGCACCCCGCTCCCTGCATCCCTCCCTGGAACCCTGCAAAGGTATCACCTCTCACTGGGCCTTGGCAATGCACATCCCTGGCAGAGCCTTGGGAACAGGGAGGGGAGCCTGGCTTTGGAGTCACAGACCTGAGCCCAAAGCCCAGCTTCACTCATCCCAGCTGCCTGCGCTTGGATGGGTCACTGTAGCCATGTGCACTTCAGGGCTTCTGTGAAGATGGGAATGCAAGTCCCCACCTCACAGCATGTGATGACAATGAGTGACCAAACCTACACGGAAGGGCCTGACTCGGTGTCCGGCTCCTGGAATGCAGAGGTACCCTGAGGCTGGCAGTGCCCTCCCTCCTGGCCCATCACATTGAGAAGTAGGCCATGAACTCTGGGGCATCCCATTCTCTGTCAAGCTGTGCTTCCTGGTGATGAGACCAGAGGCCTCCATCCTCCCAGGAGGACAGAGCTTAGCTTAGGGGAAGAACTCAGAGGAGATGCCCAGCCAGGCTCCCTGTGTGTGCAGCTAGGCCCAGCACCACCACCACCACCATCATCATCCATCATCATCATCATCATCTTGATGGTTAATAATGAGTGTCAACTTGATTGGATTGAAGGATGTAAAGTATTGACCCTGGGTGTGTCTGAGAGGGTGCTGCTAACGGAGATTAACATTTGAGTCAGTAGGGGAAGGCAGACCTACCCTTAATCTGGGTGGGCACCATCTAATCAGCTGCCAGCACGGCCAGAATATAAAGCAGGCAGAAAAAAATGTGAAAAGGCTAGACTGGCTTAGCCTCCCAGCCTACATCTTTCTCCCGTGCTGGATGCTTCCTGCCCTCAAACATCAGACTCCAAGTCCTTCAGCTCTGGGACTTGGACTGGCTTCCTTGCTCCTCAGCTTGCGATGGCCTATTGTGGGACCTTGTGATCGTGTGAGTTAATGCTCCTTAATAAATCCCCCTTTAGGCCAGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAAAAATAAACCCCCCTCTCTCTCTATATATATATCTCCTGTTAGTTCTGGCCCTCTAGAGAATCCTGACTAATAATACAATCATCATCACGCCACCTTCTATTTGGGAAGCACTTTACAATTTGTGCCGAGTTTTGTCACACACTGCCTTGCTGACTTCATCACATCGCCAAAGCAGAATTCATGGATGAGGAAACTGAGGCACAGGGCGGATCCCCCCGCCCAGCCAGAGAGCAGCAGAGCCCTGCCAGGATCCCAGCTCTTCATGGACTTCTCTGCCTGCACACCCACTGCAAGGTCAGCCCCCAAGTGCTAGCCTCAGGGTCCTCTCGGGAACCTGCTTCCTGAGGGCCCTGAGGACCTGCGGGGCCCGGCCCCCTGCCCCACC 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CGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAAAGTCTATCAGCAGTTCTTAAAGTAAGACCTGGGGACCCCTGTGAACACGTGATACCCTTTCAGAGGTCTCACACCCAGCTAATTTTGCATTTTTAGTAGAGATGGGCTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCTGACCATCTTGGCCTCCCAAAGTGCTGGTGTACACGAGCCACTGCAGCTGGCCAGTTATTTTTTAAGTTTTTTAAAAAATTTTTAATTTTAATTTTTGTGGGTACATAGTAGGCATATATATTTATTATTGTTATTTTTAAATGAATTAATATTTTGAAATTTTCACACTTTAAATTTCTAAAATGGTAAATATAGATAAAGAAAATCCAGATGATTAAAAAATCTTTGTGATCCTCAATAATTTTTCAGAGTATAAAGGGATCAAATAGGCCAAAAAACTTGAGAACTGCTGAGTTAGATCATTCCAAGGGCCCACCCAGTGCTAAAAATGTCCACAGTTTCAAAAATGAAACTATTTATAGTTTCAGCCTTTTGGGCAACAACATCTCTTCCAAGTTTTGACCTTTGGTATAAAACAGGATGTCTCTGAATGTGTCCTGAATCAGCTTTTAGAGTCCCGGGGGTCTCTCATGTTCTGTCACTGAGACTCAGTAAACAGACTTCTGTACATACGGTATTGCTATAGAAAACGTGCACACGGTGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGTGCCAAGGCGGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGTGCCTGCAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGTGCGAGACTCCATCTCGAAAAAAAAGAATACATGCACACACATATGTCTGTAACACAGTAACGTCCTCCTCTGCTAGGTTTAATATGTTCATACTCTAGATGTGTAACCAGACAGTAAGGGCTTTGAGGGCAGGAACTGTGTTCTATAATAAACCAACGAATATGCCTGGCACCTGCCACAGGCTGCTGGGCTGCACACTCAGGCTTTGCCTGCCAGGATCTTACAGCCTCCCAGGGAAGATGAGAGCAACACGCGGACCAGTGAAGGGAAGCAGGATGCTCACTCGGGCCAGGTACTGCGTGTGTCACTTAGACATTCTGTAGAGGGTGACCAAGTGTCCACCATAACTTTTCCACAACTCTTCCAGATAAGTATTGACACCACCATTTTCCAGATGAGGAAATCGAGGCTGACAGGTGACATGGCTTGCTCAGGGCCAGTCTATGGCCAGAGCTGTCATTTTTCCCTCTCGTGCCATGCAAGTGCCAAATGGGGGCACAGGTGGAAAAGGTACCACAGCACACAGGAGGTGGTGTTATTTTGGGCTGAGAGGGGGACTTGGAAGGCTTCCTGAGGGAGGAGTCAGGGTCTGAACTGAGCTTTGGGTGGGAAGATGATTTGGAGCAGCTGACGATAGGAGGGAGACAGTGGGGAGGAGGGCTCCAGTCCGGACAGCCCTCCTGCATTCCCACCGGGGCCCCACAGGGCAGGACACGCGGTCCTGGGCTCACCGACATGGCCAGGTGCAGCGGGGTGTTGCCGTGCTCTCCGCGGGCATCCGCGTTGGCCCCGTGGGTCAGCAGCACTATGGCACAGTAGAAGCGGTTGCGCATCACCGCCACGTGCAGGGCCGTGTTCCCCGCGGAGCTGGTGCTGTTCACGTTGCAGCCCCGTTTCAGCAGCATGCGGGCCATCTGCGGGAGACGGTCAGGCTGAGTTAGCACAGGCACTCGGGGAGCTGCCGCACCCCGGGACACGTGGGCACTGCCACTTCTGCTCTGAGAGGCCTACAGGTACTGGGATGTTGGAAAGCGCTAGCAAGAGGATTCCAGGGGCAGGCCCCAGTTCTAGGGGGGCCTAGACTGCCTCCCATCCCATCAGCATCCCAAGACTAGGGACAAAAAGCCAAAGATGTGCTGACTGTTTTAAGAGGCTTCTGGTCCTTTCCTAGTGCCAACAGAACCCACTCTCCTTGCAAAGGCTCCTCTGGGGCCTGTCCTGAAGCACCCCGCTCCCTGCATCCCTCCCTGGAACCCTGCAAAGGTATCACCTCTCACTGGGCCTTGGCAATGCACATCCCTGGCAGAGCCTTGGGAACAGGGAGGGGAGCCTGGCTTTGGAGTCACAGACCTGAGCCCAAAGCCCAGCTTCACTCATCCCAGCTGCCTGCGCTTGGATGGGTCACTGTAGCCATGTGCACTTCAGGGCTTCTGTGAAGATGGGAATGCAAGTCCCCACCTCACAGCATGTGATGACAATGAGTGACCAAACCTACACGGAAGGGCCTGACTCGGTGTCCGGCTCCTGGAATGCAGAGGTACCCTGAGGCTGGCAGTGCCCTCCCTCCTGGCCCATCACATTGAGAAGTAGGCCATGAACTCTGGGGCATCCCATTCTCTGTCAAGCTGTGCTTCCTGGTGATGAGACCAGAGGCCTCCATCCTCCCAGGAGGACAGAGCTTAGCTTAGGGGAAGAACTCAGAGGAGATGCCCAGCCAGGCTCCCTGTGTGTGCAGCTAGGCCCAGCACCACCACCACCACCATCATCATCCATCATCATCATCATCATCTTGATGGTTAATAATGAGTGTCAACTTGATTGGATTGAAGGATGTAAAGTATTGACCCTGGGTGTGTCTGAGAGGGTGCTGCTAACGGAGATTAACATTTGAGTCAGTAGGGGAAGGCAGACCTACCCTTAATCTGGGTGGGCACCATCTAATCAGCTGCCAGCACGGCCAGAATATAAAGCAGGCAGAAAAAAATGTGAAAAGGCTAGACTGGCTTAGCCTCCCAGCCTACATCTTTCTCCCGTGCTGGATGCTTCCTGCCCTCAAACATCAGACTCCAAGTCCTTCAGCTCTGGGACTTGGACTGGCTTCCTTGCTCCTCAGCTTGCGATGGCCTATTGTGGGACCTTGTGATCGTGTGAGTTAATGCTCCTTAATAAATCCCCCTTTAGGCCAGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAAAAATAAACCCCCCTCTCTCTCTATATATATATCTCCTGTTAGTTCTGGCCCTCTAGAGAATCCTGACTAATAATACAATCATCATCACGCCACCTTCTATTTGGGAAGCACTTTACAATTTGTGCCGAGTTTTGTCACACACTGCCTTGCTGACTTCATCACATCGCCAAAGCAGAATTCATGGATGAGGAAACTGAGGCACAGGGCGGATCCCCCCGCCCAGCCAGAGAGCAGCAGAGCCCTGCCAGGATCCCAGCTCTTCATGGACTTCTCTGCCTGCACACCCACTGCAAGGTCAGCCCCCAAGTGCTAGCCTCAGGGTCCTCTCGGGAACCTGCTTCCTGAGGGCCCTGAGGACCTGCGGGGCCCGGCCCCCTGCCCCACC 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Task1_train_28822 | Gene PLA2G6 (phospholipase A2 group VI) on Chromosome 22 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Iron accumulation in brain | TCTGCGGGAGACGGTCAGGCTGAGTTAGCACAGGCACTCGGGGAGCTGCCGCACCCCGGGACACGTGGGCACTGCCACTTCTGCTCTGAGAGGCCTACAGGTACTGGGATGTTGGAAAGCGCTAGCAAGAGGATTCCAGGGGCAGGCCCCAGTTCTAGGGGGGCCTAGACTGCCTCCCATCCCATCAGCATCCCAAGACTAGGGACAAAAAGCCAAAGATGTGCTGACTGTTTTAAGAGGCTTCTGGTCCTTTCCTAGTGCCAACAGAACCCACTCTCCTTGCAAAGGCTCCTCTGGGGCCTGTCCTGAAGCACCCCGCTCCCTGCATCCCTCCCTGGAACCCTGCAAAGGTATCACCTCTCACTGGGCCTTGGCAATGCACATCCCTGGCAGAGCCTTGGGAACAGGGAGGGGAGCCTGGCTTTGGAGTCACAGACCTGAGCCCAAAGCCCAGCTTCACTCATCCCAGCTGCCTGCGCTTGGATGGGTCACTGTAGCCATGTGCACTTCAGGGCTTCTGTGAAGATGGGAATGCAAGTCCCCACCTCACAGCATGTGATGACAATGAGTGACCAAACCTACACGGAAGGGCCTGACTCGGTGTCCGGCTCCTGGAATGCAGAGGTACCCTGAGGCTGGCAGTGCCCTCCCTCCTGGCCCATCACATTGAGAAGTAGGCCATGAACTCTGGGGCATCCCATTCTCTGTCAAGCTGTGCTTCCTGGTGATGAGACCAGAGGCCTCCATCCTCCCAGGAGGACAGAGCTTAGCTTAGGGGAAGAACTCAGAGGAGATGCCCAGCCAGGCTCCCTGTGTGTGCAGCTAGGCCCAGCACCACCACCACCACCATCATCATCCATCATCATCATCATCATCTTGATGGTTAATAATGAGTGTCAACTTGATTGGATTGAAGGATGTAAAGTATTGACCCTGGGTGTGTCTGAGAGGGTGCTGCTAACGGAGATTAACATTTGAGTCAGTAGGGGAAGGCAGACCTACCCTTAATCTGGGTGGGCACCATCTAATCAGCTGCCAGCACGGCCAGAATATAAAGCAGGCAGAAAAAAATGTGAAAAGGCTAGACTGGCTTAGCCTCCCAGCCTACATCTTTCTCCCGTGCTGGATGCTTCCTGCCCTCAAACATCAGACTCCAAGTCCTTCAGCTCTGGGACTTGGACTGGCTTCCTTGCTCCTCAGCTTGCGATGGCCTATTGTGGGACCTTGTGATCGTGTGAGTTAATGCTCCTTAATAAATCCCCCTTTAGGCCAGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAAAAATAAACCCCCCTCTCTCTCTATATATATATCTCCTGTTAGTTCTGGCCCTCTAGAGAATCCTGACTAATAATACAATCATCATCACGCCACCTTCTATTTGGGAAGCACTTTACAATTTGTGCCGAGTTTTGTCACACACTGCCTTGCTGACTTCATCACATCGCCAAAGCAGAATTCATGGATGAGGAAACTGAGGCACAGGGCGGATCCCCCCGCCCAGCCAGAGAGCAGCAGAGCCCTGCCAGGATCCCAGCTCTTCATGGACTTCTCTGCCTGCACACCCACTGCAAGGTCAGCCCCCAAGTGCTAGCCTCAGGGTCCTCTCGGGAACCTGCTTCCTGAGGGCCCTGAGGACCTGCGGGGCCCGGCCCCCTGCCCCACCCACCCACCTCAGGATCCACTCACCTCTGCGTTCTTGGCCCAGTGGAGGGGGCTGGCTCCGTAACGGGGGTCTTTGCTGTGGATCTGGCTGCTGTCCATGCTGATGATCATCTCCGCACACCTGGTGAGAGAGGGGCCCCGGTTGGTGAGCAGAAGCTAGGGTCTGCGTGGCGTGGGATGAAGCCAGGACTTGGAGCTTCATCTACTGCTTACAGAGAGCATCACTGCAAACAAAGTTCAGCAAACCCAACCAGCACACTCACCATGGTTAAGGCTGTACTGAGCCCCTCAAGGCACAACTAACCCCCTCCTCCAGGAAGCCTTCCTGATGCTGCCACCAGCAATGATCACCCTCCCTGGTACTGGCTTTAGAGTCAGATGGGCTTGAAGTCAAGCCCCAGCTTCCTCACTGGTGGCCTCCAGAAGCTGAGCAACATGGAGAGAGTGCTGAGAGGAGTGGCTGGGGTGTAAGGAAGACCAGGCATTTCAGAGCCCAGTTCTGTGCCTGGCACACAGCCACCCTCCACCTCCTTACCACACTGTCAGTGAGTCACACAGTGACCTGCATGCTATAGGAAGCAGTATGACAGAGTGGGAAAGAGCACAATTGCTTTCTACTCGGTGCCTGAGGCAAGCAGTGTCCACCAGAGATCTTAGCATCTCCAGCCTCAGAGCAGAGGCCCCGGGTTCACAAGCCTCATTAGGCCCCGCCTGGCCCAAAGAAAGTGCTCCATCATTGTATCATGGGTAGGAATCTCGGTTCACAAGTTCAGCTGTGCAAGGAGAAGACTTTAAAATTTTTCTGGCTGGGCGCGGTGTCTCACGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCGGAAGTATCAAAGGACGGAATGCAGGGACTTGAATGGACATTTGCAGACCCATGTACACAGCAGCATTCTTCACAACAGACAAAAGGTGGAAACAACCCAGGCGTCTATCAGTGAAGGACTGAATGGATAAACAAAATAGTATTCTGCCTTAAAAAGAAAGGAAATTCTGATACGTGCTGCAACATGGATGAGCCTTGAAGACATCATGCTAAGTGAAATAAGCCAGGCACAAAAGGACAAACGCTGTATGATTTCACTGATACGAGGTTCTAGAACAGGCAAGTTCTGAGAGACAGAGAGGATATGGGACTTATCGGGGGCTGTGGGGAGGGGAGAATCGGGAGTTATTAATGGTTACAGTTTCTGTTTGAGGTGATAAGAAAAGTTTTAGAAAGGGGTAATGGTTGGACAACATTGTAAATGTGATTAAAACCACCGAATTGTACACTTAAAAGTGGTTAAAATGGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAAATACAAAATTAACTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTAACGGTAAGCCGAGATCACACCATTGCACTCCAGCCTGAGCAACGAGAGCGAAACTCTGTCTCAAAAACAAAAAACAAAAGTGGTTAAAATGGCAAATTTTATGTTATATATAATCTATCACAGTTGGAAAAAATAAACATAATATATCAGAATCATTGTATACTTTCAATAGGTGGATTGTATGGAATAGGAACTATATCTCAATAAAGCTTTTTTTTTTTTTTTTTTTTAGTGCAATTACTAGGACAGCCCACATGGGTTTAATTCCCAGGTCTGGCACTTACTGACTGCCTGACTTTGAGCAAATTACTTAATCTCTCTAAGCCCTGGTTTCCTCATCTGTTTTTTGTTTGTTTGTTTGAGACAGGATTTCCCTTTGTCACCCAGGCTGGAGGGCAATGGCATGATCATAGCTCACTGTAGCCTCAAACTCCTAGGCTCAAGCGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGCCACCACACTTGGCCCTCAGCTTTAGAGGGGGAATAAAATACATCAGCTCTCTGGGCTATAGTGAAATAGCCCACATGAAGGCTAA 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TCTGCGGGAGACGGTCAGGCTGAGTTAGCACAGGCACTCGGGGAGCTGCCGCACCCCGGGACACGTGGGCACTGCCACTTCTGCTCTGAGAGGCCTACAGGTACTGGGATGTTGGAAAGCGCTAGCAAGAGGATTCCAGGGGCAGGCCCCAGTTCTAGGGGGGCCTAGACTGCCTCCCATCCCATCAGCATCCCAAGACTAGGGACAAAAAGCCAAAGATGTGCTGACTGTTTTAAGAGGCTTCTGGTCCTTTCCTAGTGCCAACAGAACCCACTCTCCTTGCAAAGGCTCCTCTGGGGCCTGTCCTGAAGCACCCCGCTCCCTGCATCCCTCCCTGGAACCCTGCAAAGGTATCACCTCTCACTGGGCCTTGGCAATGCACATCCCTGGCAGAGCCTTGGGAACAGGGAGGGGAGCCTGGCTTTGGAGTCACAGACCTGAGCCCAAAGCCCAGCTTCACTCATCCCAGCTGCCTGCGCTTGGATGGGTCACTGTAGCCATGTGCACTTCAGGGCTTCTGTGAAGATGGGAATGCAAGTCCCCACCTCACAGCATGTGATGACAATGAGTGACCAAACCTACACGGAAGGGCCTGACTCGGTGTCCGGCTCCTGGAATGCAGAGGTACCCTGAGGCTGGCAGTGCCCTCCCTCCTGGCCCATCACATTGAGAAGTAGGCCATGAACTCTGGGGCATCCCATTCTCTGTCAAGCTGTGCTTCCTGGTGATGAGACCAGAGGCCTCCATCCTCCCAGGAGGACAGAGCTTAGCTTAGGGGAAGAACTCAGAGGAGATGCCCAGCCAGGCTCCCTGTGTGTGCAGCTAGGCCCAGCACCACCACCACCACCATCATCATCCATCATCATCATCATCATCTTGATGGTTAATAATGAGTGTCAACTTGATTGGATTGAAGGATGTAAAGTATTGACCCTGGGTGTGTCTGAGAGGGTGCTGCTAACGGAGATTAACATTTGAGTCAGTAGGGGAAGGCAGACCTACCCTTAATCTGGGTGGGCACCATCTAATCAGCTGCCAGCACGGCCAGAATATAAAGCAGGCAGAAAAAAATGTGAAAAGGCTAGACTGGCTTAGCCTCCCAGCCTACATCTTTCTCCCGTGCTGGATGCTTCCTGCCCTCAAACATCAGACTCCAAGTCCTTCAGCTCTGGGACTTGGACTGGCTTCCTTGCTCCTCAGCTTGCGATGGCCTATTGTGGGACCTTGTGATCGTGTGAGTTAATGCTCCTTAATAAATCCCCCTTTAGGCCAGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAAAAATAAACCCCCCTCTCTCTCTATATATATATCTCCTGTTAGTTCTGGCCCTCTAGAGAATCCTGACTAATAATACAATCATCATCACGCCACCTTCTATTTGGGAAGCACTTTACAATTTGTGCCGAGTTTTGTCACACACTGCCTTGCTGACTTCATCACATCGCCAAAGCAGAATTCATGGATGAGGAAACTGAGGCACAGGGCGGATCCCCCCGCCCAGCCAGAGAGCAGCAGAGCCCTGCCAGGATCCCAGCTCTTCATGGACTTCTCTGCCTGCACACCCACTGCAAGGTCAGCCCCCAAGTGCTAGCCTCAGGGTCCTCTCGGGAACCTGCTTCCTGAGGGCCCTGAGGACCTGCGGGGCCCGGCCCCCTGCCCCACCCACCCACCTCAGGATCCACTCACCTCTGCGTTCTTGGCCCAGTGGAGGGGGCTGGCTCCGTAACGGGGGTCTTTGCTGTGGATCTGGCTGCTGTCCCTGCTGATGATCATCTCCGCACACCTGGTGAGAGAGGGGCCCCGGTTGGTGAGCAGAAGCTAGGGTCTGCGTGGCGTGGGATGAAGCCAGGACTTGGAGCTTCATCTACTGCTTACAGAGAGCATCACTGCAAACAAAGTTCAGCAAACCCAACCAGCACACTCACCATGGTTAAGGCTGTACTGAGCCCCTCAAGGCACAACTAACCCCCTCCTCCAGGAAGCCTTCCTGATGCTGCCACCAGCAATGATCACCCTCCCTGGTACTGGCTTTAGAGTCAGATGGGCTTGAAGTCAAGCCCCAGCTTCCTCACTGGTGGCCTCCAGAAGCTGAGCAACATGGAGAGAGTGCTGAGAGGAGTGGCTGGGGTGTAAGGAAGACCAGGCATTTCAGAGCCCAGTTCTGTGCCTGGCACACAGCCACCCTCCACCTCCTTACCACACTGTCAGTGAGTCACACAGTGACCTGCATGCTATAGGAAGCAGTATGACAGAGTGGGAAAGAGCACAATTGCTTTCTACTCGGTGCCTGAGGCAAGCAGTGTCCACCAGAGATCTTAGCATCTCCAGCCTCAGAGCAGAGGCCCCGGGTTCACAAGCCTCATTAGGCCCCGCCTGGCCCAAAGAAAGTGCTCCATCATTGTATCATGGGTAGGAATCTCGGTTCACAAGTTCAGCTGTGCAAGGAGAAGACTTTAAAATTTTTCTGGCTGGGCGCGGTGTCTCACGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCGGAAGTATCAAAGGACGGAATGCAGGGACTTGAATGGACATTTGCAGACCCATGTACACAGCAGCATTCTTCACAACAGACAAAAGGTGGAAACAACCCAGGCGTCTATCAGTGAAGGACTGAATGGATAAACAAAATAGTATTCTGCCTTAAAAAGAAAGGAAATTCTGATACGTGCTGCAACATGGATGAGCCTTGAAGACATCATGCTAAGTGAAATAAGCCAGGCACAAAAGGACAAACGCTGTATGATTTCACTGATACGAGGTTCTAGAACAGGCAAGTTCTGAGAGACAGAGAGGATATGGGACTTATCGGGGGCTGTGGGGAGGGGAGAATCGGGAGTTATTAATGGTTACAGTTTCTGTTTGAGGTGATAAGAAAAGTTTTAGAAAGGGGTAATGGTTGGACAACATTGTAAATGTGATTAAAACCACCGAATTGTACACTTAAAAGTGGTTAAAATGGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAAATACAAAATTAACTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTAACGGTAAGCCGAGATCACACCATTGCACTCCAGCCTGAGCAACGAGAGCGAAACTCTGTCTCAAAAACAAAAAACAAAAGTGGTTAAAATGGCAAATTTTATGTTATATATAATCTATCACAGTTGGAAAAAATAAACATAATATATCAGAATCATTGTATACTTTCAATAGGTGGATTGTATGGAATAGGAACTATATCTCAATAAAGCTTTTTTTTTTTTTTTTTTTTAGTGCAATTACTAGGACAGCCCACATGGGTTTAATTCCCAGGTCTGGCACTTACTGACTGCCTGACTTTGAGCAAATTACTTAATCTCTCTAAGCCCTGGTTTCCTCATCTGTTTTTTGTTTGTTTGTTTGAGACAGGATTTCCCTTTGTCACCCAGGCTGGAGGGCAATGGCATGATCATAGCTCACTGTAGCCTCAAACTCCTAGGCTCAAGCGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGCCACCACACTTGGCCCTCAGCTTTAGAGGGGGAATAAAATACATCAGCTCTCTGGGCTATAGTGAAATAGCCCACATGAAGGCTAA 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Task1_train_28823 | Consider a variant on Chromosome 22 in gene PLA2G6 (phospholipase A2 group VI). Determine its clinical classification and disease relevance. | Pathogenic; Autosomal recessive Parkinson disease 14 | GCAATTCACTTAACCTTTCTGGGCGTCAATATCCTTATCGACACAAGCTGCTGTGCCTGCCCCAGGAAATGGACAGAGTGATGGTGAGATGAGACAGTGCTGTCCAAAAGCACGCCTGGAAACTAAAGTGCAGTGAGGGTTTTTGTTTTGTTTTGTTTTTTTGAGGTGGAGTTTCACTCTTGTTGCCCAGGCTGTAATGCAGTGACACAATCTCGGCTCACTGCAACCTCCGCCTCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCTTGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATACACCCGCCTCGGCCTCACAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGCAGTGAGGTTTTGAGTTCTGGGCCTGGGAGCTTAACTGAGCTATCTAGGATAGAGACTCAGAGGAGGTGTGGCTACCTCTGCACAAGATGGCCAACTGGTGCCCTGTGCAAGGGTGGGGACAGTGCCCTCACCAGGGGCAACAGCTGCTCCATCTGCTGGCTGAATGGATTCACAAAAGGAGGCCTTCAGCTTCCAGAAGAGCAGCCTGGGCAGACACCAAGGATCCAAGCCCCTCTTTCACCCTCTCTGGCTGAGTGACCTGCACAAGTCCTGTTAGCTCTCTCTAGAATGATGATACCTGGGCCGGGCATGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGAGGGCAGATCACCTGAGGTTAGGAGTTCGAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAACACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTACCCGGGCATGATGGCACATTACTGTAATCCCAGCTATTCCGGAGGCTGAGGCAGGAGAATCACCTGAACCCAGGAGGCAGAGGGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAATAAGACTCCGTCTCAAAATAAAATAACATAACGTAACATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAGTAAAATAAAATGACGATACCTTGTGGGGGTTGGGAAAATTCAATTTCATGGTGGGTAGAAATCAGCTCCCACAGACCTGGCACCTGGTGAGCACTCCGGACTCTGGAAACATTACATTGTCCTTCTTACATTTTAATCTGGTAGCAACGCAGCACCTTTTTTTTTTTTTTTTTTTTTTTCCTAGAGACAAGGTCTCATTCTGTCACCCAGGCTGAAGTGCAGTGGTGCAATCATAGCTCACTGTAAACTCTAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCATCCCAAGTAGCTAGGAGTATAGACACATGCTAATTTTTTAATTTTTTCGTAGAGACAAGGTCTTGCTATTTTGCCAGGCTGGTCTTGAACTCCTAGTCTCAAGTGATCCTCCCTCCTCAGCCTCCCAAAGTGCTGGGACTGCGTTAGTGAGCGACCATGCCAGGCCCTGCTCCTTTTTAAGTCAAACTATGGAGGGGAACCGAGGCCTGCGGCCCCCACTGCCCACACAAGCAGGTACACACACGTTGTCCAAATGGTCTTGTTCCCTTGCTCACCTGATGATACGGCTGTGATGGAAGCACTCGCGGATCCCTAGCTCCACAGCCAGGTGGGCCACTGACCAGCTGGGGTGGTTACGGATGAGGTCGGTCAGGTGCTGCAGGACCTCAGTGTGCAGGACCTGAGGGGAGCTCTCATAGAAGGGTAGCAGCTGGGAAGAATACTGATGGAAATTCACTAGGGCGTCAGCCTCCAACTCCAGCTGGAAGAGTCTGTAGAGCCAGGACAGAGGAGCAAGACCCGAAATGAGTAAGGCGGGACCCTCGGCCCACATCCCTGCTGGAATCAGAAGGTCCCCAGGCTGCGGCCTGGCCAGCTCCAGCCCGACTCCCCTCCCAAGCAAACACACACACACACACACACACACACACACACACACACACACACACACACCCCTATACACATGTAAATGACATAATGGCGTTTAGGTTAGACTTTCTTTGTTTTTTAGAGACAAGGTCTTGCTCTGTAACCCAGGCTGGGGTGCGGTGGTGTGATCATGACTCACTGCATCTTCGAATTCCTGGGCTGAAGGGATCCTCCTACCTTAGTTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTTTTTTTTTTTGAGATAGAGTCTCATTTTGTCACCCAGGCTGGAGTGCAGTGTTGTAATCTCACCTCACTGCGACCTTCACCTCCCGGGTTCAAGCAATTCTCCTACCTCAGTCTCCAGAGTAGCTGGGATTAAAGGCGTGTGCTGCCACACCTGGCTAATTTTTTGTGTTTTTAGTAGAGATGGGGTTTGGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGAGCTCAGGCAATCCACCCCCCTCAGCCTCTCAAAGTGCTAGGATTTCAGGCACTAGCCACCGTGAGCCACTGTGCCTGGCCTAATTTTTTTTTATTTTTGTTGACAGGGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGTTCCTCCTGCCTCAGCCTCCAAAAGTACTGGGATTACAGGTGTGAGCCACTATGCTTGTCTAGATTTTCCTTTATTTTGAAAAACTTTCCTTTTCTTTGGTAATATCATTTATTATTTTTATATTTTATTTTACCACAGCCCTGCCATATCCACTTTCTAATTTCATTGCCACATGTGAGAGCTCCAGCCTCGAGTACTTGGCCCCTCTTCATAGTAGGAACTAAGTAAGTATTGTTTAACCTAAATGTACAGCAACAAAATATTATATAAATTATGGTATAACTATGTAATAAACTATTATGCAGTCATTAAAATGAGATATTTAAAAAAAGGGAAACTTTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACTGCAGCCTCCATCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGAAGAGACAGAGTTTTGTCATGTTGGCCAGGCTGATCTTAAACTCCTGGCCTCAGGTGACCTGCCTGCCTGGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTGCGCCCGGCCAGCTTTGTTCATTTTTAAGTGTTGAGGTTGAGTCCAAGTTTTGCTACTAAGGTGCTGTGTGATCTTGGGAAATCCTTTTCCCTCTCTGAGCCCCATTTGAAACATGAGACTAACTGTACCTGTCCTACCTACCTCCCAGAGGTGCTGTGAGGACAGATGAAAAACCACTATAAAAGCACTTTCAAAACCATAACCATTATATGTCAGTGATGGTTACTTAAAGTTCTGACCAGGGCTTTTAACATACCAAAAGGTTTTGTCTTGCATACCTCTACAAGCGCAGCAGCCAGCCAGAGTCTAGTGAAGGCAGTGCCCAGAGAGTGTTGGCTCAACGGGACCAGCCTGTTGTTCCACAGAGAGTGCGTTGATTAACAGTTAACTACTGGGCATGTGATCTGTGCCAAATGGAGGGGTCAATTAATGAACAATTGCATAAAATGCTCTGCCCTCCTGAAGCCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCTGCCCCCTGGGTTCAAGTGATTCTCCTGCAATTCTCCTGCTTCAGCCTCCCTAGTAGCTGGGATTACAG 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GCAATTCACTTAACCTTTCTGGGCGTCAATATCCTTATCGACACAAGCTGCTGTGCCTGCCCCAGGAAATGGACAGAGTGATGGTGAGATGAGACAGTGCTGTCCAAAAGCACGCCTGGAAACTAAAGTGCAGTGAGGGTTTTTGTTTTGTTTTGTTTTTTTGAGGTGGAGTTTCACTCTTGTTGCCCAGGCTGTAATGCAGTGACACAATCTCGGCTCACTGCAACCTCCGCCTCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCTTGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATACACCCGCCTCGGCCTCACAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGCAGTGAGGTTTTGAGTTCTGGGCCTGGGAGCTTAACTGAGCTATCTAGGATAGAGACTCAGAGGAGGTGTGGCTACCTCTGCACAAGATGGCCAACTGGTGCCCTGTGCAAGGGTGGGGACAGTGCCCTCACCAGGGGCAACAGCTGCTCCATCTGCTGGCTGAATGGATTCACAAAAGGAGGCCTTCAGCTTCCAGAAGAGCAGCCTGGGCAGACACCAAGGATCCAAGCCCCTCTTTCACCCTCTCTGGCTGAGTGACCTGCACAAGTCCTGTTAGCTCTCTCTAGAATGATGATACCTGGGCCGGGCATGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGAGGGCAGATCACCTGAGGTTAGGAGTTCGAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAACACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTACCCGGGCATGATGGCACATTACTGTAATCCCAGCTATTCCGGAGGCTGAGGCAGGAGAATCACCTGAACCCAGGAGGCAGAGGGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAATAAGACTCCGTCTCAAAATAAAATAACATAACGTAACATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAGTAAAATAAAATGACGATACCTTGTGGGGGTTGGGAAAATTCAATTTCATGGTGGGTAGAAATCAGCTCCCACAGACCTGGCACCTGGTGAGCACTCCGGACTCTGGAAACATTACATTGTCCTTCTTACATTTTAATCTGGTAGCAACGCAGCACCTTTTTTTTTTTTTTTTTTTTTTTCCTAGAGACAAGGTCTCATTCTGTCACCCAGGCTGAAGTGCAGTGGTGCAATCATAGCTCACTGTAAACTCTAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCATCCCAAGTAGCTAGGAGTATAGACACATGCTAATTTTTTAATTTTTTCGTAGAGACAAGGTCTTGCTATTTTGCCAGGCTGGTCTTGAACTCCTAGTCTCAAGTGATCCTCCCTCCTCAGCCTCCCAAAGTGCTGGGACTGCGTTAGTGAGCGACCATGCCAGGCCCTGCTCCTTTTTAAGTCAAACTATGGAGGGGAACCGAGGCCTGCGGCCCCCACTGCCCACACAAGCAGGTACACACACGTTGTCCAAATGGTCTTGTTCCCTTGCTCACCTGATGATACGGCTGTGATGGAAGCACTCGCGGATCCCTAGCTCCACAGCCAGGTGGGCCACTGACCAGCTGGGGTGGTTACGGATGAGGTCGGTCAGGTGCTGCAGGACCTCAGTGTGCAGGACCTGAGGGGAGCTCTCATAGAAGGGTAGCAGCTGGGAAGAATACTGATGGAAATTCACTAGGGCGTCAGCCTCCAACTCCAGCTGTAAGAGTCTGTAGAGCCAGGACAGAGGAGCAAGACCCGAAATGAGTAAGGCGGGACCCTCGGCCCACATCCCTGCTGGAATCAGAAGGTCCCCAGGCTGCGGCCTGGCCAGCTCCAGCCCGACTCCCCTCCCAAGCAAACACACACACACACACACACACACACACACACACACACACACACACACACCCCTATACACATGTAAATGACATAATGGCGTTTAGGTTAGACTTTCTTTGTTTTTTAGAGACAAGGTCTTGCTCTGTAACCCAGGCTGGGGTGCGGTGGTGTGATCATGACTCACTGCATCTTCGAATTCCTGGGCTGAAGGGATCCTCCTACCTTAGTTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTTTTTTTTTTTGAGATAGAGTCTCATTTTGTCACCCAGGCTGGAGTGCAGTGTTGTAATCTCACCTCACTGCGACCTTCACCTCCCGGGTTCAAGCAATTCTCCTACCTCAGTCTCCAGAGTAGCTGGGATTAAAGGCGTGTGCTGCCACACCTGGCTAATTTTTTGTGTTTTTAGTAGAGATGGGGTTTGGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGAGCTCAGGCAATCCACCCCCCTCAGCCTCTCAAAGTGCTAGGATTTCAGGCACTAGCCACCGTGAGCCACTGTGCCTGGCCTAATTTTTTTTTATTTTTGTTGACAGGGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGTTCCTCCTGCCTCAGCCTCCAAAAGTACTGGGATTACAGGTGTGAGCCACTATGCTTGTCTAGATTTTCCTTTATTTTGAAAAACTTTCCTTTTCTTTGGTAATATCATTTATTATTTTTATATTTTATTTTACCACAGCCCTGCCATATCCACTTTCTAATTTCATTGCCACATGTGAGAGCTCCAGCCTCGAGTACTTGGCCCCTCTTCATAGTAGGAACTAAGTAAGTATTGTTTAACCTAAATGTACAGCAACAAAATATTATATAAATTATGGTATAACTATGTAATAAACTATTATGCAGTCATTAAAATGAGATATTTAAAAAAAGGGAAACTTTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACTGCAGCCTCCATCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGAAGAGACAGAGTTTTGTCATGTTGGCCAGGCTGATCTTAAACTCCTGGCCTCAGGTGACCTGCCTGCCTGGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTGCGCCCGGCCAGCTTTGTTCATTTTTAAGTGTTGAGGTTGAGTCCAAGTTTTGCTACTAAGGTGCTGTGTGATCTTGGGAAATCCTTTTCCCTCTCTGAGCCCCATTTGAAACATGAGACTAACTGTACCTGTCCTACCTACCTCCCAGAGGTGCTGTGAGGACAGATGAAAAACCACTATAAAAGCACTTTCAAAACCATAACCATTATATGTCAGTGATGGTTACTTAAAGTTCTGACCAGGGCTTTTAACATACCAAAAGGTTTTGTCTTGCATACCTCTACAAGCGCAGCAGCCAGCCAGAGTCTAGTGAAGGCAGTGCCCAGAGAGTGTTGGCTCAACGGGACCAGCCTGTTGTTCCACAGAGAGTGCGTTGATTAACAGTTAACTACTGGGCATGTGATCTGTGCCAAATGGAGGGGTCAATTAATGAACAATTGCATAAAATGCTCTGCCCTCCTGAAGCCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCTGCCCCCTGGGTTCAAGTGATTCTCCTGCAATTCTCCTGCTTCAGCCTCCCTAGTAGCTGGGATTACAG 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Task1_train_28824 | This mutation occurs in PLA2G6 (phospholipase A2 group VI) on Chromosome 22. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Infantile neuroaxonal dystrophy | ATCTGGAATCCTGTCAAGGGATTTTACAACTGACAGAACTTGGTGATTATTGGTACGTGGAGATTAGTGGTATCCCCAGGGCCGTGTACCTCAAAAGTGGGGCTGTCCAGCTCTCCAAGGAGTGGACCCGCTGCCCTGGTCAGCTGTGCCTGCAGTGGAGCTCTGAAGCTACAAGTGCAAGCCTGCCCCGTCCAGGGTCAGTCCTGATCGAGTCCAGCTGGAAGGCGGTCTGCTCAGCCCCATCTGCACTCAGAATCTGGAATGGCCCCACTGTATTAAAACTGGTGCCTGCACTGGCCACTGAGCTGCATTTAGCCCAAGCACCTGCTGTGGGTGCCTCTGCCTCAGGTTCCTTGTGGAGCCAGGCTCTGAATTCTCACCTGATTGGATGGGGCCCTGATACCTGCCTTGCTCTTCTGTTGGTGGCAGCCCCTGGCCCCCAGCCTGACACTTTCAGAGACCCCTCCTGCCATGCCTCTTTAGTCAGAATGAGTCCCCAGCTGCTTCCTTCAGCCTCACTCTCACCAAAGCCCTGCATGCACCTGGGATCCAACCAGAGCCACCTGCCTGCAGGCTCACACCTCCACACTTCTGCACGGCTGGAACGACCTTATCCATTTTGTTCTGCCACACAGGCTCCTCCTCACTCTTCCAGACGCAGAGTAGCTCTCAATCACCTCCTTGTGATCCACACTGTTTCCTAGGCTCTCCCTCTGTCACAGCACTCCTCAAGGGGTGCTATGACGCCTGTTTGCACCGGACCTCCCCCACCAGACTGTACGTTCCTTAAAGACACAGGACATGTTTGTCATCTCACAGGCCAGCCAGGACTGGCCCGAAGCCCAGGACTCTGGAGACACTGGAGGTGCTTGGTGCATGTTGAATGGATGGCTGACAGGACAGCCAGATGGATAGGTGAGCGGAAACAGGGATATCTGTCTGAGCCCAACTAGATGCCAGTCTGCCAAGCACTGCTGGGGCCTGCATTTGGAACCTTGGCTGCTTCTCCCCTTTTCCCAACCAGCTCTGCCGTTGGCCCGGTTCCCTCAGGCCTGTCCTGGCTTTTGAGCCTTCTCTTCAGGCCCAGGGGAGTCCCAGCATGCCCCAAGAGGCAACAGCTCTGTCCAGCCTTCCTAAGCAAACCCTGGGCAGCCCCTATGAGAACGGCCATGCCCTTAAAGAGCCAGGGCTAGGCCAGGTGCAGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGATGAAACCCCGTCTCTGCTAAAAATACAAAAATCAGCTGGGCGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTGTCTCAAAAAACAAAAACCAAAACCAAAAATAAAGAGCCAGGGCTAAAGGTTCTCCCCATGGGCCTTATCTGATGTGGACACTCTCAGTCTCCCTGTCCTTCCTTCTTCCCTTTGTCCATATAGGTCGAGCCTCCAGGCCAGAAACAACCCAGGCTTCCATCCTCAGCCTCGTGCTGGGACACTGATGGGCCAGAAGTGTGGAGTCTCGGAAGCCCTTCCCTCTGGTCCAAGAGTACAGTCTCCCCTCTCTCCCACCCCTCTCCAGACCCCTCAGACAGAGACTCAAAGAAACTGCTTCTCGGCCAATAAGACCTCCAATCCGAGACGTGGGGGAGTGAAAGGAGAGAAGTATGTTCCCGCTGAGCATCACCCACCGGAATCCACTCTGTGAGTTCCTGGGGTTGACCAGGACGCAGTCCCAGGTGCGGTTGGGAGTGTTCTGGAACAGAATCAGCTGCCCTTCCTCCCGAACTCGGTCACTCGAGGTGTAGTCGGCCACAGCCACCTCCTTCACCCGGAATGGGTTAGAGAACAAGTTGGTGACGCCACTGAAGGTATTGACCAGGCGGCCAAAGAACTGCATCTTCTGCGGGGCAGGTGGGGAGGCCCCACCGTCTTCCCCCTCTGTCTGGAAGAAAACGAGGTCTCTGGTCAGCCAGGCACAGTCTCCCATGCCCATCTCACCCAGTGCAGCGGTTTCCTGCACAGACACCCAGATCACTCCCCACCAGCGTTGTCCCCAGATCCTGGGCCTGGAGGGATCTTAAAAGGAGGGGAAAGAAAGAGAAACAACACTGAGTGGGAGGTAAAAGTGACAGAACCCTCAGGCCAGGCTGGCTACCTAGAAGGCTGTCCCCCTGTGCTGCCACTGTGCACAGGTGACCTTAACTGCCTGCTTCCTGACCCAGTGTCCCAGCAGAGACTCAGTTTCCTCACCTGTAGTGTGTGGTATTGACCAAAGGAGATAGCACATGTGAACATACATTATAGGCAGTAATGCCCTGGGCAAATGGAGGGTTCTCACTAAATAAGTTACAGAGATAACCTTTCAGCACTCAAAGAGGCTAGTATGGACCAGACACAGTGGCTCAGGCATGTAATCCCAGCACTTCGAGAGGCTGAGGCGGGCGGATCATTTGAGGTCAGAAATTCGAGACCAGCCTGGCCAACATGGCGAAACCCTGCCTCTACTAAAAATACAAAAATTAGCCAGATGTGGTGGCAGGCGCCTGTAGTCCCAGCTGCCCGGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCGATAGGGTGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAGGCCAGCATGGATCATTTCACTTCCGCAAACAAAATCAATGTCCCCCCTCCTAGATACCAAAAGGTGACCAGCATCATGTCACACTCTATCGGAGCAAGGGGATCATCGGCATTGGTCTAAATCCTTTGTTTCCTGCTACCACAGGTTTCCCAAAGAGCTCCGAGAGACAGCACACAAAAGCAAGCTCCTTGGAAATGAACGAACTGCACCTTCTGCAGGGGCAGGTGGGGGAGCCCCTGCAGAAGATGCCATTCGAGACTCAGGAGCAGCAGTGTCTGGGTGGTAACTTTACGCTGCATATTCAGAGTCATAGTTTCTGCCATGGAAATTGTCCCCAGTGTTGATGATGGAATTAGATACCTTGTTATTTCCTAGGTTCCCAGAAAATACACTGCCTTCCTAAGGTACTGTCACCAAAGCCAGGCGCCAATCAGACGGAGGCCGCCCTCTGCCTCTGTGCCAAGATGTCACCAGACAAAAGACACTAAGGACAGAGTATGGGTGCCCTGGGGGAGAGAGGACATCTGAGTGGACACTGGGTCACAGCCACATTCTTCCCTGGCCTATGTGCTGAGCACAGGATCAACCCTGGGGACAGAAGGAAGACAAAAGCAAGGGGCCCACTAAGAGGCACATGAAAAGGAAAAAAGATCAATACTAATAATTATACCAACAAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGACTCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCTGAGATGGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAGATCATAACAACTGAAGAAAAGTTCGCAGTGTCCCATTACAAGGCTCAGTGCCATCTCTCAATGATGTCTATCTGGAATGTTCTTCCTCTCCTTTTCTGTCTGAGAAAGCCCTGATCCTTCTTCAAATCCAAGCTTGGTTCTCGTGGTTCTCAGCCTCCTCCTTAAAAATGTTTTTGTTGTTGTTGTTTTGAAACAGGGTCTGGCTCTGTTGCCCAGGCTGGAGTACAGTGGCTCAATCATGGCTCACTGCAGCCTCTACCTCCTTCCACCTCAGCCTCCTG 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ATCTGGAATCCTGTCAAGGGATTTTACAACTGACAGAACTTGGTGATTATTGGTACGTGGAGATTAGTGGTATCCCCAGGGCCGTGTACCTCAAAAGTGGGGCTGTCCAGCTCTCCAAGGAGTGGACCCGCTGCCCTGGTCAGCTGTGCCTGCAGTGGAGCTCTGAAGCTACAAGTGCAAGCCTGCCCCGTCCAGGGTCAGTCCTGATCGAGTCCAGCTGGAAGGCGGTCTGCTCAGCCCCATCTGCACTCAGAATCTGGAATGGCCCCACTGTATTAAAACTGGTGCCTGCACTGGCCACTGAGCTGCATTTAGCCCAAGCACCTGCTGTGGGTGCCTCTGCCTCAGGTTCCTTGTGGAGCCAGGCTCTGAATTCTCACCTGATTGGATGGGGCCCTGATACCTGCCTTGCTCTTCTGTTGGTGGCAGCCCCTGGCCCCCAGCCTGACACTTTCAGAGACCCCTCCTGCCATGCCTCTTTAGTCAGAATGAGTCCCCAGCTGCTTCCTTCAGCCTCACTCTCACCAAAGCCCTGCATGCACCTGGGATCCAACCAGAGCCACCTGCCTGCAGGCTCACACCTCCACACTTCTGCACGGCTGGAACGACCTTATCCATTTTGTTCTGCCACACAGGCTCCTCCTCACTCTTCCAGACGCAGAGTAGCTCTCAATCACCTCCTTGTGATCCACACTGTTTCCTAGGCTCTCCCTCTGTCACAGCACTCCTCAAGGGGTGCTATGACGCCTGTTTGCACCGGACCTCCCCCACCAGACTGTACGTTCCTTAAAGACACAGGACATGTTTGTCATCTCACAGGCCAGCCAGGACTGGCCCGAAGCCCAGGACTCTGGAGACACTGGAGGTGCTTGGTGCATGTTGAATGGATGGCTGACAGGACAGCCAGATGGATAGGTGAGCGGAAACAGGGATATCTGTCTGAGCCCAACTAGATGCCAGTCTGCCAAGCACTGCTGGGGCCTGCATTTGGAACCTTGGCTGCTTCTCCCCTTTTCCCAACCAGCTCTGCCGTTGGCCCGGTTCCCTCAGGCCTGTCCTGGCTTTTGAGCCTTCTCTTCAGGCCCAGGGGAGTCCCAGCATGCCCCAAGAGGCAACAGCTCTGTCCAGCCTTCCTAAGCAAACCCTGGGCAGCCCCTATGAGAACGGCCATGCCCTTAAAGAGCCAGGGCTAGGCCAGGTGCAGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGATGAAACCCCGTCTCTGCTAAAAATACAAAAATCAGCTGGGCGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTGTCTCAAAAAACAAAAACCAAAACCAAAAATAAAGAGCCAGGGCTAAAGGTTCTCCCCATGGGCCTTATCTGATGTGGACACTCTCAGTCTCCCTGTCCTTCCTTCTTCCCTTTGTCCATATAGGTCGAGCCTCCAGGCCAGAAACAACCCAGGCTTCCATCCTCAGCCTCGTGCTGGGACACTGATGGGCCAGAAGTGTGGAGTCTCGGAAGCCCTTCCCTCTGGTCCAAGAGTACAGTCTCCCCTCTCTCCCACCCCTCTCCAGACCCCTCAGACAGAGACTCAAAGAAACTGCTTCTCGGCCAATAAGACCTCCAATCCGAGACGTGGGGGAGTGAAAGGAGAGAAGTATGTTCCCGCTGAGCATCACCCACCGGAATCCACTCTGTGAGTTCCTGGGGTTGACCAGGACGCAGTCCCAGGTGCGGTTGGGAGTGTTCTGGAACAGAATCAGCTGCCCTTCCTCCCGAACTCGGTCACTCGAGGTGTAGTCGGCCACAGCCACCTCCTTCACCCGGAATGGGTTAGAGAACAAGTTGGTGACGCCACTGAAGGTATTGACCAGGCGGCCAAAGAACTGAATCTTCTGCGGGGCAGGTGGGGAGGCCCCACCGTCTTCCCCCTCTGTCTGGAAGAAAACGAGGTCTCTGGTCAGCCAGGCACAGTCTCCCATGCCCATCTCACCCAGTGCAGCGGTTTCCTGCACAGACACCCAGATCACTCCCCACCAGCGTTGTCCCCAGATCCTGGGCCTGGAGGGATCTTAAAAGGAGGGGAAAGAAAGAGAAACAACACTGAGTGGGAGGTAAAAGTGACAGAACCCTCAGGCCAGGCTGGCTACCTAGAAGGCTGTCCCCCTGTGCTGCCACTGTGCACAGGTGACCTTAACTGCCTGCTTCCTGACCCAGTGTCCCAGCAGAGACTCAGTTTCCTCACCTGTAGTGTGTGGTATTGACCAAAGGAGATAGCACATGTGAACATACATTATAGGCAGTAATGCCCTGGGCAAATGGAGGGTTCTCACTAAATAAGTTACAGAGATAACCTTTCAGCACTCAAAGAGGCTAGTATGGACCAGACACAGTGGCTCAGGCATGTAATCCCAGCACTTCGAGAGGCTGAGGCGGGCGGATCATTTGAGGTCAGAAATTCGAGACCAGCCTGGCCAACATGGCGAAACCCTGCCTCTACTAAAAATACAAAAATTAGCCAGATGTGGTGGCAGGCGCCTGTAGTCCCAGCTGCCCGGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCGATAGGGTGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAGGCCAGCATGGATCATTTCACTTCCGCAAACAAAATCAATGTCCCCCCTCCTAGATACCAAAAGGTGACCAGCATCATGTCACACTCTATCGGAGCAAGGGGATCATCGGCATTGGTCTAAATCCTTTGTTTCCTGCTACCACAGGTTTCCCAAAGAGCTCCGAGAGACAGCACACAAAAGCAAGCTCCTTGGAAATGAACGAACTGCACCTTCTGCAGGGGCAGGTGGGGGAGCCCCTGCAGAAGATGCCATTCGAGACTCAGGAGCAGCAGTGTCTGGGTGGTAACTTTACGCTGCATATTCAGAGTCATAGTTTCTGCCATGGAAATTGTCCCCAGTGTTGATGATGGAATTAGATACCTTGTTATTTCCTAGGTTCCCAGAAAATACACTGCCTTCCTAAGGTACTGTCACCAAAGCCAGGCGCCAATCAGACGGAGGCCGCCCTCTGCCTCTGTGCCAAGATGTCACCAGACAAAAGACACTAAGGACAGAGTATGGGTGCCCTGGGGGAGAGAGGACATCTGAGTGGACACTGGGTCACAGCCACATTCTTCCCTGGCCTATGTGCTGAGCACAGGATCAACCCTGGGGACAGAAGGAAGACAAAAGCAAGGGGCCCACTAAGAGGCACATGAAAAGGAAAAAAGATCAATACTAATAATTATACCAACAAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGACTCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCTGAGATGGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAGATCATAACAACTGAAGAAAAGTTCGCAGTGTCCCATTACAAGGCTCAGTGCCATCTCTCAATGATGTCTATCTGGAATGTTCTTCCTCTCCTTTTCTGTCTGAGAAAGCCCTGATCCTTCTTCAAATCCAAGCTTGGTTCTCGTGGTTCTCAGCCTCCTCCTTAAAAATGTTTTTGTTGTTGTTGTTTTGAAACAGGGTCTGGCTCTGTTGCCCAGGCTGGAGTACAGTGGCTCAATCATGGCTCACTGCAGCCTCTACCTCCTTCCACCTCAGCCTCCTG 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Task1_train_28825 | This is a variant in PLA2G6 (phospholipase A2 group VI), located on Chromosome 22. Is this mutation a likely cause of disease or not? | Pathogenic; Infantile neuroaxonal dystrophy | CTGGAATCCTGTCAAGGGATTTTACAACTGACAGAACTTGGTGATTATTGGTACGTGGAGATTAGTGGTATCCCCAGGGCCGTGTACCTCAAAAGTGGGGCTGTCCAGCTCTCCAAGGAGTGGACCCGCTGCCCTGGTCAGCTGTGCCTGCAGTGGAGCTCTGAAGCTACAAGTGCAAGCCTGCCCCGTCCAGGGTCAGTCCTGATCGAGTCCAGCTGGAAGGCGGTCTGCTCAGCCCCATCTGCACTCAGAATCTGGAATGGCCCCACTGTATTAAAACTGGTGCCTGCACTGGCCACTGAGCTGCATTTAGCCCAAGCACCTGCTGTGGGTGCCTCTGCCTCAGGTTCCTTGTGGAGCCAGGCTCTGAATTCTCACCTGATTGGATGGGGCCCTGATACCTGCCTTGCTCTTCTGTTGGTGGCAGCCCCTGGCCCCCAGCCTGACACTTTCAGAGACCCCTCCTGCCATGCCTCTTTAGTCAGAATGAGTCCCCAGCTGCTTCCTTCAGCCTCACTCTCACCAAAGCCCTGCATGCACCTGGGATCCAACCAGAGCCACCTGCCTGCAGGCTCACACCTCCACACTTCTGCACGGCTGGAACGACCTTATCCATTTTGTTCTGCCACACAGGCTCCTCCTCACTCTTCCAGACGCAGAGTAGCTCTCAATCACCTCCTTGTGATCCACACTGTTTCCTAGGCTCTCCCTCTGTCACAGCACTCCTCAAGGGGTGCTATGACGCCTGTTTGCACCGGACCTCCCCCACCAGACTGTACGTTCCTTAAAGACACAGGACATGTTTGTCATCTCACAGGCCAGCCAGGACTGGCCCGAAGCCCAGGACTCTGGAGACACTGGAGGTGCTTGGTGCATGTTGAATGGATGGCTGACAGGACAGCCAGATGGATAGGTGAGCGGAAACAGGGATATCTGTCTGAGCCCAACTAGATGCCAGTCTGCCAAGCACTGCTGGGGCCTGCATTTGGAACCTTGGCTGCTTCTCCCCTTTTCCCAACCAGCTCTGCCGTTGGCCCGGTTCCCTCAGGCCTGTCCTGGCTTTTGAGCCTTCTCTTCAGGCCCAGGGGAGTCCCAGCATGCCCCAAGAGGCAACAGCTCTGTCCAGCCTTCCTAAGCAAACCCTGGGCAGCCCCTATGAGAACGGCCATGCCCTTAAAGAGCCAGGGCTAGGCCAGGTGCAGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGATGAAACCCCGTCTCTGCTAAAAATACAAAAATCAGCTGGGCGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTGTCTCAAAAAACAAAAACCAAAACCAAAAATAAAGAGCCAGGGCTAAAGGTTCTCCCCATGGGCCTTATCTGATGTGGACACTCTCAGTCTCCCTGTCCTTCCTTCTTCCCTTTGTCCATATAGGTCGAGCCTCCAGGCCAGAAACAACCCAGGCTTCCATCCTCAGCCTCGTGCTGGGACACTGATGGGCCAGAAGTGTGGAGTCTCGGAAGCCCTTCCCTCTGGTCCAAGAGTACAGTCTCCCCTCTCTCCCACCCCTCTCCAGACCCCTCAGACAGAGACTCAAAGAAACTGCTTCTCGGCCAATAAGACCTCCAATCCGAGACGTGGGGGAGTGAAAGGAGAGAAGTATGTTCCCGCTGAGCATCACCCACCGGAATCCACTCTGTGAGTTCCTGGGGTTGACCAGGACGCAGTCCCAGGTGCGGTTGGGAGTGTTCTGGAACAGAATCAGCTGCCCTTCCTCCCGAACTCGGTCACTCGAGGTGTAGTCGGCCACAGCCACCTCCTTCACCCGGAATGGGTTAGAGAACAAGTTGGTGACGCCACTGAAGGTATTGACCAGGCGGCCAAAGAACTGCATCTTCTGCGGGGCAGGTGGGGAGGCCCCACCGTCTTCCCCCTCTGTCTGGAAGAAAACGAGGTCTCTGGTCAGCCAGGCACAGTCTCCCATGCCCATCTCACCCAGTGCAGCGGTTTCCTGCACAGACACCCAGATCACTCCCCACCAGCGTTGTCCCCAGATCCTGGGCCTGGAGGGATCTTAAAAGGAGGGGAAAGAAAGAGAAACAACACTGAGTGGGAGGTAAAAGTGACAGAACCCTCAGGCCAGGCTGGCTACCTAGAAGGCTGTCCCCCTGTGCTGCCACTGTGCACAGGTGACCTTAACTGCCTGCTTCCTGACCCAGTGTCCCAGCAGAGACTCAGTTTCCTCACCTGTAGTGTGTGGTATTGACCAAAGGAGATAGCACATGTGAACATACATTATAGGCAGTAATGCCCTGGGCAAATGGAGGGTTCTCACTAAATAAGTTACAGAGATAACCTTTCAGCACTCAAAGAGGCTAGTATGGACCAGACACAGTGGCTCAGGCATGTAATCCCAGCACTTCGAGAGGCTGAGGCGGGCGGATCATTTGAGGTCAGAAATTCGAGACCAGCCTGGCCAACATGGCGAAACCCTGCCTCTACTAAAAATACAAAAATTAGCCAGATGTGGTGGCAGGCGCCTGTAGTCCCAGCTGCCCGGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCGATAGGGTGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAGGCCAGCATGGATCATTTCACTTCCGCAAACAAAATCAATGTCCCCCCTCCTAGATACCAAAAGGTGACCAGCATCATGTCACACTCTATCGGAGCAAGGGGATCATCGGCATTGGTCTAAATCCTTTGTTTCCTGCTACCACAGGTTTCCCAAAGAGCTCCGAGAGACAGCACACAAAAGCAAGCTCCTTGGAAATGAACGAACTGCACCTTCTGCAGGGGCAGGTGGGGGAGCCCCTGCAGAAGATGCCATTCGAGACTCAGGAGCAGCAGTGTCTGGGTGGTAACTTTACGCTGCATATTCAGAGTCATAGTTTCTGCCATGGAAATTGTCCCCAGTGTTGATGATGGAATTAGATACCTTGTTATTTCCTAGGTTCCCAGAAAATACACTGCCTTCCTAAGGTACTGTCACCAAAGCCAGGCGCCAATCAGACGGAGGCCGCCCTCTGCCTCTGTGCCAAGATGTCACCAGACAAAAGACACTAAGGACAGAGTATGGGTGCCCTGGGGGAGAGAGGACATCTGAGTGGACACTGGGTCACAGCCACATTCTTCCCTGGCCTATGTGCTGAGCACAGGATCAACCCTGGGGACAGAAGGAAGACAAAAGCAAGGGGCCCACTAAGAGGCACATGAAAAGGAAAAAAGATCAATACTAATAATTATACCAACAAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGACTCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCTGAGATGGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAGATCATAACAACTGAAGAAAAGTTCGCAGTGTCCCATTACAAGGCTCAGTGCCATCTCTCAATGATGTCTATCTGGAATGTTCTTCCTCTCCTTTTCTGTCTGAGAAAGCCCTGATCCTTCTTCAAATCCAAGCTTGGTTCTCGTGGTTCTCAGCCTCCTCCTTAAAAATGTTTTTGTTGTTGTTGTTTTGAAACAGGGTCTGGCTCTGTTGCCCAGGCTGGAGTACAGTGGCTCAATCATGGCTCACTGCAGCCTCTACCTCCTTCCACCTCAGCCTCCTGAG 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CTGGAATCCTGTCAAGGGATTTTACAACTGACAGAACTTGGTGATTATTGGTACGTGGAGATTAGTGGTATCCCCAGGGCCGTGTACCTCAAAAGTGGGGCTGTCCAGCTCTCCAAGGAGTGGACCCGCTGCCCTGGTCAGCTGTGCCTGCAGTGGAGCTCTGAAGCTACAAGTGCAAGCCTGCCCCGTCCAGGGTCAGTCCTGATCGAGTCCAGCTGGAAGGCGGTCTGCTCAGCCCCATCTGCACTCAGAATCTGGAATGGCCCCACTGTATTAAAACTGGTGCCTGCACTGGCCACTGAGCTGCATTTAGCCCAAGCACCTGCTGTGGGTGCCTCTGCCTCAGGTTCCTTGTGGAGCCAGGCTCTGAATTCTCACCTGATTGGATGGGGCCCTGATACCTGCCTTGCTCTTCTGTTGGTGGCAGCCCCTGGCCCCCAGCCTGACACTTTCAGAGACCCCTCCTGCCATGCCTCTTTAGTCAGAATGAGTCCCCAGCTGCTTCCTTCAGCCTCACTCTCACCAAAGCCCTGCATGCACCTGGGATCCAACCAGAGCCACCTGCCTGCAGGCTCACACCTCCACACTTCTGCACGGCTGGAACGACCTTATCCATTTTGTTCTGCCACACAGGCTCCTCCTCACTCTTCCAGACGCAGAGTAGCTCTCAATCACCTCCTTGTGATCCACACTGTTTCCTAGGCTCTCCCTCTGTCACAGCACTCCTCAAGGGGTGCTATGACGCCTGTTTGCACCGGACCTCCCCCACCAGACTGTACGTTCCTTAAAGACACAGGACATGTTTGTCATCTCACAGGCCAGCCAGGACTGGCCCGAAGCCCAGGACTCTGGAGACACTGGAGGTGCTTGGTGCATGTTGAATGGATGGCTGACAGGACAGCCAGATGGATAGGTGAGCGGAAACAGGGATATCTGTCTGAGCCCAACTAGATGCCAGTCTGCCAAGCACTGCTGGGGCCTGCATTTGGAACCTTGGCTGCTTCTCCCCTTTTCCCAACCAGCTCTGCCGTTGGCCCGGTTCCCTCAGGCCTGTCCTGGCTTTTGAGCCTTCTCTTCAGGCCCAGGGGAGTCCCAGCATGCCCCAAGAGGCAACAGCTCTGTCCAGCCTTCCTAAGCAAACCCTGGGCAGCCCCTATGAGAACGGCCATGCCCTTAAAGAGCCAGGGCTAGGCCAGGTGCAGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGATGAAACCCCGTCTCTGCTAAAAATACAAAAATCAGCTGGGCGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTGTCTCAAAAAACAAAAACCAAAACCAAAAATAAAGAGCCAGGGCTAAAGGTTCTCCCCATGGGCCTTATCTGATGTGGACACTCTCAGTCTCCCTGTCCTTCCTTCTTCCCTTTGTCCATATAGGTCGAGCCTCCAGGCCAGAAACAACCCAGGCTTCCATCCTCAGCCTCGTGCTGGGACACTGATGGGCCAGAAGTGTGGAGTCTCGGAAGCCCTTCCCTCTGGTCCAAGAGTACAGTCTCCCCTCTCTCCCACCCCTCTCCAGACCCCTCAGACAGAGACTCAAAGAAACTGCTTCTCGGCCAATAAGACCTCCAATCCGAGACGTGGGGGAGTGAAAGGAGAGAAGTATGTTCCCGCTGAGCATCACCCACCGGAATCCACTCTGTGAGTTCCTGGGGTTGACCAGGACGCAGTCCCAGGTGCGGTTGGGAGTGTTCTGGAACAGAATCAGCTGCCCTTCCTCCCGAACTCGGTCACTCGAGGTGTAGTCGGCCACAGCCACCTCCTTCACCCGGAATGGGTTAGAGAACAAGTTGGTGACGCCACTGAAGGTATTGACCAGGCGGCCAAAGAACTGCACCTTCTGCGGGGCAGGTGGGGAGGCCCCACCGTCTTCCCCCTCTGTCTGGAAGAAAACGAGGTCTCTGGTCAGCCAGGCACAGTCTCCCATGCCCATCTCACCCAGTGCAGCGGTTTCCTGCACAGACACCCAGATCACTCCCCACCAGCGTTGTCCCCAGATCCTGGGCCTGGAGGGATCTTAAAAGGAGGGGAAAGAAAGAGAAACAACACTGAGTGGGAGGTAAAAGTGACAGAACCCTCAGGCCAGGCTGGCTACCTAGAAGGCTGTCCCCCTGTGCTGCCACTGTGCACAGGTGACCTTAACTGCCTGCTTCCTGACCCAGTGTCCCAGCAGAGACTCAGTTTCCTCACCTGTAGTGTGTGGTATTGACCAAAGGAGATAGCACATGTGAACATACATTATAGGCAGTAATGCCCTGGGCAAATGGAGGGTTCTCACTAAATAAGTTACAGAGATAACCTTTCAGCACTCAAAGAGGCTAGTATGGACCAGACACAGTGGCTCAGGCATGTAATCCCAGCACTTCGAGAGGCTGAGGCGGGCGGATCATTTGAGGTCAGAAATTCGAGACCAGCCTGGCCAACATGGCGAAACCCTGCCTCTACTAAAAATACAAAAATTAGCCAGATGTGGTGGCAGGCGCCTGTAGTCCCAGCTGCCCGGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCGATAGGGTGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAGGCCAGCATGGATCATTTCACTTCCGCAAACAAAATCAATGTCCCCCCTCCTAGATACCAAAAGGTGACCAGCATCATGTCACACTCTATCGGAGCAAGGGGATCATCGGCATTGGTCTAAATCCTTTGTTTCCTGCTACCACAGGTTTCCCAAAGAGCTCCGAGAGACAGCACACAAAAGCAAGCTCCTTGGAAATGAACGAACTGCACCTTCTGCAGGGGCAGGTGGGGGAGCCCCTGCAGAAGATGCCATTCGAGACTCAGGAGCAGCAGTGTCTGGGTGGTAACTTTACGCTGCATATTCAGAGTCATAGTTTCTGCCATGGAAATTGTCCCCAGTGTTGATGATGGAATTAGATACCTTGTTATTTCCTAGGTTCCCAGAAAATACACTGCCTTCCTAAGGTACTGTCACCAAAGCCAGGCGCCAATCAGACGGAGGCCGCCCTCTGCCTCTGTGCCAAGATGTCACCAGACAAAAGACACTAAGGACAGAGTATGGGTGCCCTGGGGGAGAGAGGACATCTGAGTGGACACTGGGTCACAGCCACATTCTTCCCTGGCCTATGTGCTGAGCACAGGATCAACCCTGGGGACAGAAGGAAGACAAAAGCAAGGGGCCCACTAAGAGGCACATGAAAAGGAAAAAAGATCAATACTAATAATTATACCAACAAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGACTCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCTGAGATGGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAGATCATAACAACTGAAGAAAAGTTCGCAGTGTCCCATTACAAGGCTCAGTGCCATCTCTCAATGATGTCTATCTGGAATGTTCTTCCTCTCCTTTTCTGTCTGAGAAAGCCCTGATCCTTCTTCAAATCCAAGCTTGGTTCTCGTGGTTCTCAGCCTCCTCCTTAAAAATGTTTTTGTTGTTGTTGTTTTGAAACAGGGTCTGGCTCTGTTGCCCAGGCTGGAGTACAGTGGCTCAATCATGGCTCACTGCAGCCTCTACCTCCTTCCACCTCAGCCTCCTGAG 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Task1_train_28826 | A variant has been detected on Chromosome 22 in PLA2G6 (phospholipase A2 group VI). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; PLA2G6-associated neurodegeneration | CTGGAATCCTGTCAAGGGATTTTACAACTGACAGAACTTGGTGATTATTGGTACGTGGAGATTAGTGGTATCCCCAGGGCCGTGTACCTCAAAAGTGGGGCTGTCCAGCTCTCCAAGGAGTGGACCCGCTGCCCTGGTCAGCTGTGCCTGCAGTGGAGCTCTGAAGCTACAAGTGCAAGCCTGCCCCGTCCAGGGTCAGTCCTGATCGAGTCCAGCTGGAAGGCGGTCTGCTCAGCCCCATCTGCACTCAGAATCTGGAATGGCCCCACTGTATTAAAACTGGTGCCTGCACTGGCCACTGAGCTGCATTTAGCCCAAGCACCTGCTGTGGGTGCCTCTGCCTCAGGTTCCTTGTGGAGCCAGGCTCTGAATTCTCACCTGATTGGATGGGGCCCTGATACCTGCCTTGCTCTTCTGTTGGTGGCAGCCCCTGGCCCCCAGCCTGACACTTTCAGAGACCCCTCCTGCCATGCCTCTTTAGTCAGAATGAGTCCCCAGCTGCTTCCTTCAGCCTCACTCTCACCAAAGCCCTGCATGCACCTGGGATCCAACCAGAGCCACCTGCCTGCAGGCTCACACCTCCACACTTCTGCACGGCTGGAACGACCTTATCCATTTTGTTCTGCCACACAGGCTCCTCCTCACTCTTCCAGACGCAGAGTAGCTCTCAATCACCTCCTTGTGATCCACACTGTTTCCTAGGCTCTCCCTCTGTCACAGCACTCCTCAAGGGGTGCTATGACGCCTGTTTGCACCGGACCTCCCCCACCAGACTGTACGTTCCTTAAAGACACAGGACATGTTTGTCATCTCACAGGCCAGCCAGGACTGGCCCGAAGCCCAGGACTCTGGAGACACTGGAGGTGCTTGGTGCATGTTGAATGGATGGCTGACAGGACAGCCAGATGGATAGGTGAGCGGAAACAGGGATATCTGTCTGAGCCCAACTAGATGCCAGTCTGCCAAGCACTGCTGGGGCCTGCATTTGGAACCTTGGCTGCTTCTCCCCTTTTCCCAACCAGCTCTGCCGTTGGCCCGGTTCCCTCAGGCCTGTCCTGGCTTTTGAGCCTTCTCTTCAGGCCCAGGGGAGTCCCAGCATGCCCCAAGAGGCAACAGCTCTGTCCAGCCTTCCTAAGCAAACCCTGGGCAGCCCCTATGAGAACGGCCATGCCCTTAAAGAGCCAGGGCTAGGCCAGGTGCAGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGATGAAACCCCGTCTCTGCTAAAAATACAAAAATCAGCTGGGCGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTGTCTCAAAAAACAAAAACCAAAACCAAAAATAAAGAGCCAGGGCTAAAGGTTCTCCCCATGGGCCTTATCTGATGTGGACACTCTCAGTCTCCCTGTCCTTCCTTCTTCCCTTTGTCCATATAGGTCGAGCCTCCAGGCCAGAAACAACCCAGGCTTCCATCCTCAGCCTCGTGCTGGGACACTGATGGGCCAGAAGTGTGGAGTCTCGGAAGCCCTTCCCTCTGGTCCAAGAGTACAGTCTCCCCTCTCTCCCACCCCTCTCCAGACCCCTCAGACAGAGACTCAAAGAAACTGCTTCTCGGCCAATAAGACCTCCAATCCGAGACGTGGGGGAGTGAAAGGAGAGAAGTATGTTCCCGCTGAGCATCACCCACCGGAATCCACTCTGTGAGTTCCTGGGGTTGACCAGGACGCAGTCCCAGGTGCGGTTGGGAGTGTTCTGGAACAGAATCAGCTGCCCTTCCTCCCGAACTCGGTCACTCGAGGTGTAGTCGGCCACAGCCACCTCCTTCACCCGGAATGGGTTAGAGAACAAGTTGGTGACGCCACTGAAGGTATTGACCAGGCGGCCAAAGAACTGCATCTTCTGCGGGGCAGGTGGGGAGGCCCCACCGTCTTCCCCCTCTGTCTGGAAGAAAACGAGGTCTCTGGTCAGCCAGGCACAGTCTCCCATGCCCATCTCACCCAGTGCAGCGGTTTCCTGCACAGACACCCAGATCACTCCCCACCAGCGTTGTCCCCAGATCCTGGGCCTGGAGGGATCTTAAAAGGAGGGGAAAGAAAGAGAAACAACACTGAGTGGGAGGTAAAAGTGACAGAACCCTCAGGCCAGGCTGGCTACCTAGAAGGCTGTCCCCCTGTGCTGCCACTGTGCACAGGTGACCTTAACTGCCTGCTTCCTGACCCAGTGTCCCAGCAGAGACTCAGTTTCCTCACCTGTAGTGTGTGGTATTGACCAAAGGAGATAGCACATGTGAACATACATTATAGGCAGTAATGCCCTGGGCAAATGGAGGGTTCTCACTAAATAAGTTACAGAGATAACCTTTCAGCACTCAAAGAGGCTAGTATGGACCAGACACAGTGGCTCAGGCATGTAATCCCAGCACTTCGAGAGGCTGAGGCGGGCGGATCATTTGAGGTCAGAAATTCGAGACCAGCCTGGCCAACATGGCGAAACCCTGCCTCTACTAAAAATACAAAAATTAGCCAGATGTGGTGGCAGGCGCCTGTAGTCCCAGCTGCCCGGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCGATAGGGTGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAGGCCAGCATGGATCATTTCACTTCCGCAAACAAAATCAATGTCCCCCCTCCTAGATACCAAAAGGTGACCAGCATCATGTCACACTCTATCGGAGCAAGGGGATCATCGGCATTGGTCTAAATCCTTTGTTTCCTGCTACCACAGGTTTCCCAAAGAGCTCCGAGAGACAGCACACAAAAGCAAGCTCCTTGGAAATGAACGAACTGCACCTTCTGCAGGGGCAGGTGGGGGAGCCCCTGCAGAAGATGCCATTCGAGACTCAGGAGCAGCAGTGTCTGGGTGGTAACTTTACGCTGCATATTCAGAGTCATAGTTTCTGCCATGGAAATTGTCCCCAGTGTTGATGATGGAATTAGATACCTTGTTATTTCCTAGGTTCCCAGAAAATACACTGCCTTCCTAAGGTACTGTCACCAAAGCCAGGCGCCAATCAGACGGAGGCCGCCCTCTGCCTCTGTGCCAAGATGTCACCAGACAAAAGACACTAAGGACAGAGTATGGGTGCCCTGGGGGAGAGAGGACATCTGAGTGGACACTGGGTCACAGCCACATTCTTCCCTGGCCTATGTGCTGAGCACAGGATCAACCCTGGGGACAGAAGGAAGACAAAAGCAAGGGGCCCACTAAGAGGCACATGAAAAGGAAAAAAGATCAATACTAATAATTATACCAACAAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGACTCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCTGAGATGGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAGATCATAACAACTGAAGAAAAGTTCGCAGTGTCCCATTACAAGGCTCAGTGCCATCTCTCAATGATGTCTATCTGGAATGTTCTTCCTCTCCTTTTCTGTCTGAGAAAGCCCTGATCCTTCTTCAAATCCAAGCTTGGTTCTCGTGGTTCTCAGCCTCCTCCTTAAAAATGTTTTTGTTGTTGTTGTTTTGAAACAGGGTCTGGCTCTGTTGCCCAGGCTGGAGTACAGTGGCTCAATCATGGCTCACTGCAGCCTCTACCTCCTTCCACCTCAGCCTCCTGAG 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CTGGAATCCTGTCAAGGGATTTTACAACTGACAGAACTTGGTGATTATTGGTACGTGGAGATTAGTGGTATCCCCAGGGCCGTGTACCTCAAAAGTGGGGCTGTCCAGCTCTCCAAGGAGTGGACCCGCTGCCCTGGTCAGCTGTGCCTGCAGTGGAGCTCTGAAGCTACAAGTGCAAGCCTGCCCCGTCCAGGGTCAGTCCTGATCGAGTCCAGCTGGAAGGCGGTCTGCTCAGCCCCATCTGCACTCAGAATCTGGAATGGCCCCACTGTATTAAAACTGGTGCCTGCACTGGCCACTGAGCTGCATTTAGCCCAAGCACCTGCTGTGGGTGCCTCTGCCTCAGGTTCCTTGTGGAGCCAGGCTCTGAATTCTCACCTGATTGGATGGGGCCCTGATACCTGCCTTGCTCTTCTGTTGGTGGCAGCCCCTGGCCCCCAGCCTGACACTTTCAGAGACCCCTCCTGCCATGCCTCTTTAGTCAGAATGAGTCCCCAGCTGCTTCCTTCAGCCTCACTCTCACCAAAGCCCTGCATGCACCTGGGATCCAACCAGAGCCACCTGCCTGCAGGCTCACACCTCCACACTTCTGCACGGCTGGAACGACCTTATCCATTTTGTTCTGCCACACAGGCTCCTCCTCACTCTTCCAGACGCAGAGTAGCTCTCAATCACCTCCTTGTGATCCACACTGTTTCCTAGGCTCTCCCTCTGTCACAGCACTCCTCAAGGGGTGCTATGACGCCTGTTTGCACCGGACCTCCCCCACCAGACTGTACGTTCCTTAAAGACACAGGACATGTTTGTCATCTCACAGGCCAGCCAGGACTGGCCCGAAGCCCAGGACTCTGGAGACACTGGAGGTGCTTGGTGCATGTTGAATGGATGGCTGACAGGACAGCCAGATGGATAGGTGAGCGGAAACAGGGATATCTGTCTGAGCCCAACTAGATGCCAGTCTGCCAAGCACTGCTGGGGCCTGCATTTGGAACCTTGGCTGCTTCTCCCCTTTTCCCAACCAGCTCTGCCGTTGGCCCGGTTCCCTCAGGCCTGTCCTGGCTTTTGAGCCTTCTCTTCAGGCCCAGGGGAGTCCCAGCATGCCCCAAGAGGCAACAGCTCTGTCCAGCCTTCCTAAGCAAACCCTGGGCAGCCCCTATGAGAACGGCCATGCCCTTAAAGAGCCAGGGCTAGGCCAGGTGCAGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGATGAAACCCCGTCTCTGCTAAAAATACAAAAATCAGCTGGGCGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTGTCTCAAAAAACAAAAACCAAAACCAAAAATAAAGAGCCAGGGCTAAAGGTTCTCCCCATGGGCCTTATCTGATGTGGACACTCTCAGTCTCCCTGTCCTTCCTTCTTCCCTTTGTCCATATAGGTCGAGCCTCCAGGCCAGAAACAACCCAGGCTTCCATCCTCAGCCTCGTGCTGGGACACTGATGGGCCAGAAGTGTGGAGTCTCGGAAGCCCTTCCCTCTGGTCCAAGAGTACAGTCTCCCCTCTCTCCCACCCCTCTCCAGACCCCTCAGACAGAGACTCAAAGAAACTGCTTCTCGGCCAATAAGACCTCCAATCCGAGACGTGGGGGAGTGAAAGGAGAGAAGTATGTTCCCGCTGAGCATCACCCACCGGAATCCACTCTGTGAGTTCCTGGGGTTGACCAGGACGCAGTCCCAGGTGCGGTTGGGAGTGTTCTGGAACAGAATCAGCTGCCCTTCCTCCCGAACTCGGTCACTCGAGGTGTAGTCGGCCACAGCCACCTCCTTCACCCGGAATGGGTTAGAGAACAAGTTGGTGACGCCACTGAAGGTATTGACCAGGCGGCCAAAGAACTGCACCTTCTGCGGGGCAGGTGGGGAGGCCCCACCGTCTTCCCCCTCTGTCTGGAAGAAAACGAGGTCTCTGGTCAGCCAGGCACAGTCTCCCATGCCCATCTCACCCAGTGCAGCGGTTTCCTGCACAGACACCCAGATCACTCCCCACCAGCGTTGTCCCCAGATCCTGGGCCTGGAGGGATCTTAAAAGGAGGGGAAAGAAAGAGAAACAACACTGAGTGGGAGGTAAAAGTGACAGAACCCTCAGGCCAGGCTGGCTACCTAGAAGGCTGTCCCCCTGTGCTGCCACTGTGCACAGGTGACCTTAACTGCCTGCTTCCTGACCCAGTGTCCCAGCAGAGACTCAGTTTCCTCACCTGTAGTGTGTGGTATTGACCAAAGGAGATAGCACATGTGAACATACATTATAGGCAGTAATGCCCTGGGCAAATGGAGGGTTCTCACTAAATAAGTTACAGAGATAACCTTTCAGCACTCAAAGAGGCTAGTATGGACCAGACACAGTGGCTCAGGCATGTAATCCCAGCACTTCGAGAGGCTGAGGCGGGCGGATCATTTGAGGTCAGAAATTCGAGACCAGCCTGGCCAACATGGCGAAACCCTGCCTCTACTAAAAATACAAAAATTAGCCAGATGTGGTGGCAGGCGCCTGTAGTCCCAGCTGCCCGGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCGATAGGGTGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAGGCCAGCATGGATCATTTCACTTCCGCAAACAAAATCAATGTCCCCCCTCCTAGATACCAAAAGGTGACCAGCATCATGTCACACTCTATCGGAGCAAGGGGATCATCGGCATTGGTCTAAATCCTTTGTTTCCTGCTACCACAGGTTTCCCAAAGAGCTCCGAGAGACAGCACACAAAAGCAAGCTCCTTGGAAATGAACGAACTGCACCTTCTGCAGGGGCAGGTGGGGGAGCCCCTGCAGAAGATGCCATTCGAGACTCAGGAGCAGCAGTGTCTGGGTGGTAACTTTACGCTGCATATTCAGAGTCATAGTTTCTGCCATGGAAATTGTCCCCAGTGTTGATGATGGAATTAGATACCTTGTTATTTCCTAGGTTCCCAGAAAATACACTGCCTTCCTAAGGTACTGTCACCAAAGCCAGGCGCCAATCAGACGGAGGCCGCCCTCTGCCTCTGTGCCAAGATGTCACCAGACAAAAGACACTAAGGACAGAGTATGGGTGCCCTGGGGGAGAGAGGACATCTGAGTGGACACTGGGTCACAGCCACATTCTTCCCTGGCCTATGTGCTGAGCACAGGATCAACCCTGGGGACAGAAGGAAGACAAAAGCAAGGGGCCCACTAAGAGGCACATGAAAAGGAAAAAAGATCAATACTAATAATTATACCAACAAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGACTCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCTGAGATGGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAGATCATAACAACTGAAGAAAAGTTCGCAGTGTCCCATTACAAGGCTCAGTGCCATCTCTCAATGATGTCTATCTGGAATGTTCTTCCTCTCCTTTTCTGTCTGAGAAAGCCCTGATCCTTCTTCAAATCCAAGCTTGGTTCTCGTGGTTCTCAGCCTCCTCCTTAAAAATGTTTTTGTTGTTGTTGTTTTGAAACAGGGTCTGGCTCTGTTGCCCAGGCTGGAGTACAGTGGCTCAATCATGGCTCACTGCAGCCTCTACCTCCTTCCACCTCAGCCTCCTGAG 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Task1_train_28827 | A sequence alteration has been identified in DMC1 (DNA meiotic recombinase 1) on Chromosome 22. Is it disease-inducing or harmless? | Pathogenic; Azoospermia | CTTTGAAAAGTGAAAGGGAGGGAATCACGTACTCCTTTCCCAACAACTAGTTTTCCATAGGTATATATACATACACAGAGTGAGAGAATTTCAATAGGTATATATATCTACTATATATGTCAGGTATACACACACAAACACACACACACACAAACATACATATACATATCCCTGAATTTACATACAATGTATAGTTATCATAAATCAGGGACTTTTAAGATAAATATAAGATTTAAATCTCTTTGCTGACTTTTCTTTAGTAACATGTGGGAAAAAACCTCTATTTCAAGATGTGAAATTGGAGACTGCTTTTCCATTTCTTCAGCTCCTAATAAGCACTAAGAAGCAATTTGCATCAATTCACCACCTACTCCTTGGCATCCCCAATTCCTCCAGCAGTTATTGCGAAGGTGGCTTCATTTTCAGGCATCTCAGGACTAACAGAATACAAGGGAACAGAAGTTTATAAAAAGCTCTATTTCTATAAATACTATATTCATGTCACAGGCATTATGTGCCCATCAGTCTGAATCTCCAGAGACATCTCAGAGTTGGTACAACCAAATGTGGCCTACAGAACTTACCCACAAGTATTATTAACCCTCACAAACATTTATTGAGCAACTTCTATATATAAAGTTCTGAATGTCAAGAAAAATTACTCCAAACTTGGAAACAGGTGAAAGGATAACTGGATGTTCTTTCATTTATTTATTTTAATTTTTTTTTTTTGGCGAAGTCTTGCTCTTGTCCCCCAGGCAATGGTGAGATCTCGTCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCAACTGGATGTTCTTTTAGTATAGTGTCAGGCATTGTATAGCAGCCCCTTAGAGGTTTATCTGATTCTATAGGGGTATGCACCTTTCTTATGACTAGACTAATGTAGGAGCAAACTGTAAAATACTTTGAAATAAATTAAAAGATTACTGAGTACCTTCCATGGAAACATAGGTTGTCTAGCACATCCTCCCAGGTTATCCAATTCTTTTTTGTTTTTTGTTTTTGTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTAGTCTCAAACTTCTGGCCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAAGTGCTAGGATTACAGGTGTGAGCCACTGTGCCGGGCCAAAATCTGTAATTCTTAATTAAACACGTAAAGTGCTGAGAAAGAATATAGGGTATAATATACTGAGTAGCCTAGACTGTAAGGGTTAGGGAAAGGTTCCCTGAGAAAGTGATGTTTAAACTGAAACCTGAAAAACAAATAGAGTTAACCTGGCAAAAAGAAAGGAGGATATGTTCCCATACTTGATACTTACCTTGTATTTAACACAATTTAATTGGAATTGATGATTTCATTATCTAGGTGTATGCTTTGAAAGGTCAGGGACCAAGTCTATGTGTCAATAGAATCCCTCAATCCCTAGTACCTAGTAACAGTAGGGACTTCCCAATAAATTGAATAATTTTTTAGAAAGAAATTCAAACACACAGCATCTGGCAGTAATAATTACAGCCTTGTGGTGGCTCACACCTATAGTCCCAGCACTTTGGGAGCCCAAGGTGGGAGGATTGCTTGAGCCTAGGAGTTTGAGACCAGCTCGGGCAACATGGCAAAACCCCGTCTCTACACACACACACACACACACACACACACACACACACACACACACACACACAAAATAAAAAAAAATTTACCTGTCATAAATCTTGGCAATTCTGAGCTCTCCTCTTCCCTTTCGCAAGCTTATTCTTGTTGTTGAAGCATGAGCCAGAATGTGTCCCCCAATGGGTTTTTTGGGATCTGCCTGAAAGCTGAATTAATAAAATACTCTTTCAGGTTTCATCATATGGACTATATATGGCAATATCTGCAATTACAAGGCAATCTTTCTGTGGTGGATGTCAGGAGTTGGAATAAGTGTATATTCTAAACAAGCAGAGGCTTGTTCATAAACTAAGGAGTGAGGTGAGTTTTGGAGCTGCTATATACCCCATCTAGTCTAGGCTTTTGAGATTCCTATGATAAATAGTTTATATTTTGTTTGACTTTTTTTTTTTGAGATGGAGTCTAGCTGTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGAGGTTTCACTGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTGGGCCTCCCAAAGTGCTGGGGTTACAAGCACGAGCCACTGTGCCCAGCCTGACTTTAAAAAATGAGATTACTGGCTGGGCTCGGTGGCTCGTGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGTGGATCACTGAGGTCAGAAGTTCGAGACTAGCCTGGCCAACATGGCAAAAACCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGTGTGCCTGATGCTTGTAATCCCAGCTACTCTGGAGGCTGAGGCAAGAGAATTGTTTGAACCCAAGAGGTGGAGGCTGCAGTTAGCTGAGATCAGCCACTGCATTCCAGCCTGGGCAACAGAATAAGACTCCTTCTCAAAAAACAAACAAACAAAAACAGAAAGAAAAAAAGAAAATGTGGGCTTAGAAATCATCAATAAGGGAACAGCACAAACTAAAGGTTATACTTGATCAAAATAAACTATGATATAGAATAATAGCTTCAGTTCTGAAAGAATATAGTTACAAGTCAATTCAAGTTGTGCTTGCTCCATTAAAGTGTTCATGATTCTGGTTTTACTCTAAGCTTCAGGCTTGGTATAGCAAGGATGTAGCTGATTGGCATGAGGTTAAATATATTTAGACTGTAGGTTGGTCGGGATAAGAAGCTCTTTGGTAAAGGAGTTTGCTGAGATAAACTGCTACTTGATTAAATGGCTCAGAGGTTAGGACCAGAAGACCCCTGGTTGGTGCTGAATAGGATTAAGATTCAGTAGAAACTGGACACTATGGCACATATCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGGACCACTTGAGCCCAGGAATTCAGAGGCTAGCCTGGGCACCATAGTGAGGCCCTCTTAAAAACATTTTTAAAAAAATGTTTTAAATGCAAATGCAGCAGGTCCAACATAGGAACAAGGACAAAGAGTTAGTTTTGGAGTGAACCACTATCAAGAAAGTAGTAGCCAGACAGTTGAGACTAACGGCGGCAGTTAAGAAGTCAGAAAGCTGGGTTGCTTTGCCAGGCACCTGACATGGTAGTAAAGCAATAAAGCCTTCTCAGTTGGATAAAATAGCTAGATAAGTGAGTTGTCTCTATAATGCTTACAGATCGATGCCACTTAACTTTTCAGGTCACCCTACCTTACAGGTGGTTCTTCATGGTTTTAAAATAATCTTATGTTCTATATAGATGGGCTGCTTGAGACCCTGAGGATATTCTCAACTGAGCTATGAACTCCGAGCCTGCAAACACTGTATTTATGCTTCTGTAATGTACTTTTCATGTTCTGCCTTTAGTACTATTATTTATTTACTTATTGTATTCCTTCTCAATTCCTCTCTTATTCTCTATCACTAAGCTCCTTAAGGGCAGACTATATTGTGTTTAGTTCTGCACAACCAGGCACACAGTGGGTGTTCAAAATTGTTTTTTCAGCTACGTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCGGAAGGCGGAGGCTGCAGTGAGCTGAGATTGCGCCACTGTACTCTAGCCTGGGTGA 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CTTTGAAAAGTGAAAGGGAGGGAATCACGTACTCCTTTCCCAACAACTAGTTTTCCATAGGTATATATACATACACAGAGTGAGAGAATTTCAATAGGTATATATATCTACTATATATGTCAGGTATACACACACAAACACACACACACACAAACATACATATACATATCCCTGAATTTACATACAATGTATAGTTATCATAAATCAGGGACTTTTAAGATAAATATAAGATTTAAATCTCTTTGCTGACTTTTCTTTAGTAACATGTGGGAAAAAACCTCTATTTCAAGATGTGAAATTGGAGACTGCTTTTCCATTTCTTCAGCTCCTAATAAGCACTAAGAAGCAATTTGCATCAATTCACCACCTACTCCTTGGCATCCCCAATTCCTCCAGCAGTTATTGCGAAGGTGGCTTCATTTTCAGGCATCTCAGGACTAACAGAATACAAGGGAACAGAAGTTTATAAAAAGCTCTATTTCTATAAATACTATATTCATGTCACAGGCATTATGTGCCCATCAGTCTGAATCTCCAGAGACATCTCAGAGTTGGTACAACCAAATGTGGCCTACAGAACTTACCCACAAGTATTATTAACCCTCACAAACATTTATTGAGCAACTTCTATATATAAAGTTCTGAATGTCAAGAAAAATTACTCCAAACTTGGAAACAGGTGAAAGGATAACTGGATGTTCTTTCATTTATTTATTTTAATTTTTTTTTTTTGGCGAAGTCTTGCTCTTGTCCCCCAGGCAATGGTGAGATCTCGTCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCAACTGGATGTTCTTTTAGTATAGTGTCAGGCATTGTATAGCAGCCCCTTAGAGGTTTATCTGATTCTATAGGGGTATGCACCTTTCTTATGACTAGACTAATGTAGGAGCAAACTGTAAAATACTTTGAAATAAATTAAAAGATTACTGAGTACCTTCCATGGAAACATAGGTTGTCTAGCACATCCTCCCAGGTTATCCAATTCTTTTTTGTTTTTTGTTTTTGTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTAGTCTCAAACTTCTGGCCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAAGTGCTAGGATTACAGGTGTGAGCCACTGTGCCGGGCCAAAATCTGTAATTCTTAATTAAACACGTAAAGTGCTGAGAAAGAATATAGGGTATAATATACTGAGTAGCCTAGACTGTAAGGGTTAGGGAAAGGTTCCCTGAGAAAGTGATGTTTAAACTGAAACCTGAAAAACAAATAGAGTTAACCTGGCAAAAAGAAAGGAGGATATGTTCCCATACTTGATACTTACCTTGTATTTAACACAATTTAATTGGAATTGATGATTTCATTATCTAGGTGTATGCTTTGAAAGGTCAGGGACCAAGTCTATGTGTCAATAGAATCCCTCAATCCCTAGTACCTAGTAACAGTAGGGACTTCCCAATAAATTGAATAATTTTTTAGAAAGAAATTCAAACACACAGCATCTGGCAGTAATAATTACAGCCTTGTGGTGGCTCACACCTATAGTCCCAGCACTTTGGGAGCCCAAGGTGGGAGGATTGCTTGAGCCTAGGAGTTTGAGACCAGCTCGGGCAACATGGCAAAACCCCGTCTCTACACACACACACACACACACACACACACACACACACACACACACACACACAAAATAAAAAAAAATTTACCTGTCATAAATCTTGGCAATTCTGAGCTCTCCTCTTCCCTTTCGCAAGCTTATTCTTGTTGTTGAAGCATGAGCCAGAATGTGTCCCCCAATGTGTTTTTTGGGATCTGCCTGAAAGCTGAATTAATAAAATACTCTTTCAGGTTTCATCATATGGACTATATATGGCAATATCTGCAATTACAAGGCAATCTTTCTGTGGTGGATGTCAGGAGTTGGAATAAGTGTATATTCTAAACAAGCAGAGGCTTGTTCATAAACTAAGGAGTGAGGTGAGTTTTGGAGCTGCTATATACCCCATCTAGTCTAGGCTTTTGAGATTCCTATGATAAATAGTTTATATTTTGTTTGACTTTTTTTTTTTGAGATGGAGTCTAGCTGTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGAGGTTTCACTGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTGGGCCTCCCAAAGTGCTGGGGTTACAAGCACGAGCCACTGTGCCCAGCCTGACTTTAAAAAATGAGATTACTGGCTGGGCTCGGTGGCTCGTGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGTGGATCACTGAGGTCAGAAGTTCGAGACTAGCCTGGCCAACATGGCAAAAACCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGTGTGCCTGATGCTTGTAATCCCAGCTACTCTGGAGGCTGAGGCAAGAGAATTGTTTGAACCCAAGAGGTGGAGGCTGCAGTTAGCTGAGATCAGCCACTGCATTCCAGCCTGGGCAACAGAATAAGACTCCTTCTCAAAAAACAAACAAACAAAAACAGAAAGAAAAAAAGAAAATGTGGGCTTAGAAATCATCAATAAGGGAACAGCACAAACTAAAGGTTATACTTGATCAAAATAAACTATGATATAGAATAATAGCTTCAGTTCTGAAAGAATATAGTTACAAGTCAATTCAAGTTGTGCTTGCTCCATTAAAGTGTTCATGATTCTGGTTTTACTCTAAGCTTCAGGCTTGGTATAGCAAGGATGTAGCTGATTGGCATGAGGTTAAATATATTTAGACTGTAGGTTGGTCGGGATAAGAAGCTCTTTGGTAAAGGAGTTTGCTGAGATAAACTGCTACTTGATTAAATGGCTCAGAGGTTAGGACCAGAAGACCCCTGGTTGGTGCTGAATAGGATTAAGATTCAGTAGAAACTGGACACTATGGCACATATCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGGACCACTTGAGCCCAGGAATTCAGAGGCTAGCCTGGGCACCATAGTGAGGCCCTCTTAAAAACATTTTTAAAAAAATGTTTTAAATGCAAATGCAGCAGGTCCAACATAGGAACAAGGACAAAGAGTTAGTTTTGGAGTGAACCACTATCAAGAAAGTAGTAGCCAGACAGTTGAGACTAACGGCGGCAGTTAAGAAGTCAGAAAGCTGGGTTGCTTTGCCAGGCACCTGACATGGTAGTAAAGCAATAAAGCCTTCTCAGTTGGATAAAATAGCTAGATAAGTGAGTTGTCTCTATAATGCTTACAGATCGATGCCACTTAACTTTTCAGGTCACCCTACCTTACAGGTGGTTCTTCATGGTTTTAAAATAATCTTATGTTCTATATAGATGGGCTGCTTGAGACCCTGAGGATATTCTCAACTGAGCTATGAACTCCGAGCCTGCAAACACTGTATTTATGCTTCTGTAATGTACTTTTCATGTTCTGCCTTTAGTACTATTATTTATTTACTTATTGTATTCCTTCTCAATTCCTCTCTTATTCTCTATCACTAAGCTCCTTAAGGGCAGACTATATTGTGTTTAGTTCTGCACAACCAGGCACACAGTGGGTGTTCAAAATTGTTTTTTCAGCTACGTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCGGAAGGCGGAGGCTGCAGTGAGCTGAGATTGCGCCACTGTACTCTAGCCTGGGTGA 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Task1_train_28828 | A mutation in DMC1 (DNA meiotic recombinase 1), located on Chromosome 22, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Azoospermia | CCATCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGCAGAATGGTGTGAACTCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAAAGTTTAAGACCCTACCACCTGGGGTAAAGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGATGAGATGAATGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCCATCTCTACCAAAAATACAACAATTAGCTGGGCATGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGGCTGCATGAGCTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAATGCCATCTCTACTAAAAAATAAAAAATTAGCTGGGTGTGGTGGCGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGAATTGCTTGAACCTGGGAGGCAGAAGTTGCAGTGAGCCAAGATCAGGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAAATCAGCCAGGCGTGGTGGCAGTTGCCTGTAATCCCAGCTACACAGGAAGCTGAGGCAGAATTGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTGCAGCCTGGGAGACAGAGCAAGACTCCATCTCTAAATAAATAAATAAATAAATGAAAATAAAATAAAGACCCCACCACAGGAAAGAAAGCCTGGGGTTCCCCTACTGAACTGAGGTCCTTAAAGGGGAGCTGAAGTAGTCTTAAACTGGTGCCATCCCCTAGCTACCAGCAAAAGCAAATTCGTTCTGGAGGAAAACTTTCCTACCTACCAATCCAGGTCCATTGAACTTTCATAGATTAAAATCAAACAATAAGCTCAGAAACACCAATAAATACAGAAGAAGGTAAGCCACTAAGACTGAGTCAACAGAAATAATGAAAACCAGATTTAGTGCCCAAGTCAACAGAAAAAAAAAAAAAAAAAACAGATTTAGTTCTCCAAGGACAGCAAATACTGGAATTCCCAGATGTGATACACAGTGTAGCTATGCATGAATTGCTTTTTAAAAATAGAGGATAGGACGGGTGCAGTGGCTCATGCCTGTAATCCCAATACTTTGGGAGGTCAAAGTGGGAGGATTGCTTGAGTCCAGGAGTTCGAGACCATCTTGGGCAACATAGCGAGACCCTTTATCTATTATTTAAAAAAAAAAATAGAGGATATAATCAGGGAAGAGGGAATCTAGTCTCTATGTTCATGGAACATTAATTGCCTAGAAATAAAATCAGCCTCATTATTCAATTACCTTTTGAACAAATAAGTGAAAAAAAATCTATTATCAGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAAAAATTAGCTGGGAGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGGAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGACCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAATCTATTATCTTCTATAGGAATCACAAATAAAAGATGAAAAGTGTTGATAAGACCCATCTGTTAATGTTCATATATATTTTCGTTGCAGTACAGAATGATCTCATGTTATGATAATTGAGATTTTGTAAGTTCCAAAATACTTACAATTTATTATTGGTTGTTTATTTAATTATATGTGTATGTATACACATAGATGTGTATGTGTGTGTGTATAATATTTCATTTAACAAAATATTAAGGTTCTACCTACCTCCAAAAGCTTCTGTAATTGCCATACTTTCAATTCCACCTCCTAGTAACTTACTGGAAATAGAAAGAAAGCATTAGTAACAGGAATAGAAATAGAAATATTAAGAGAGGAGAAAGTATTCATATCATTAGTATCCTTCCTATCTATGTATCTATCTATCTATTCTATCATCTACCTATCTATCTACAGAACATGAACAGCAATTCTTGGCTGAACAAATAGCATGCCACTTGCTAGATCACAGGTTCTATTGTGTATGGGCAAGTGGATCAGCAAAACAAATGATAAGCCCTATCGTTCTTACTTCAATAGTAAATGGAACCTGGGAATACTGCATGCTGTAGGCTTAAAAAATAATAATAATAAATTATTTTAAGAAAAAACTTAAAAAAATAGTAAATGGGTTAGCAAGGCCTTATGTCTTACTAGTCTTTAGAATTGAATTGGAGTTACAGATCGTCTTAATTATTATTATTATTATTTTTTTTTTTTCGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGTGATCTTGGCTCACTGCAGCCTCCGCCTACCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCACGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCACCATATTGGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCATGCCCAGCCCATCTTAGTTATTAATTGGGTATTTAATATTGTGCTGGAACTATGTTTCTATAGTCAATTGAATTTTCAATGTTTTTTCTTTTTCTTTTTTGAGACAGAATCTTGTTCTGTCACCTGACACAGGGCTAATTTTTTATTTTTTGTATGGCTGGGGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTGAGGCTCAAGAGATCTGCCCACCTTGGCCTTCCAAAGTGCTGGGATTATAGACATGAGCCATCATGCCCGGCTTCAGTTTTTAATATACTGAAAAACATATGAAAAACAGGTATTAGGAAAATCCAGTGATTGTCATTATGGTCAGGTTATCTCACATAAACCAAATATTATGGAGGACATGTCAGAATAGTAAATGTCAAAGATGTTGTAGGTAATGCTAGCAGTTAGAAGAGTAACTGTCAGATTCTGACAGCATACATTTAATTGGTAGCCCAATGTTGTAGTGCATTTAAAGCTCTGAATAAGAAAAGGCCTAAATTTAAGTCATGATCTCATTCATTCATTAAATGCAACACATATTAATTGTGTTAATTGTGCTAAGACCTGGTAGGGGCACTTTAAAAACCTTGTATGTAGTCTATTAACATGATTTTTTGGGATGTGATCACAGGTCAGACAAAAATTTAAGATATATAGATAATCCAATACATTTACATTTACATAGTTTAAGAGAGCAATTTAAATGTAAATTGAAACAATGTTGGAAGTTATCCACAAATTTAGTGAGGGCTGCAGACTTCAATAAGGAAAAGAAAAATCTAGATAGTGTACCTGCACAACTTAAATCTAAAGGACATGGGCTAAGCGATCAACCCATTTGGAGGGAATACACTTGGAAATCTTATAGGCCCAGCAACTATTTTTTTCTTCAACTTTTATTTTAAATTCAGGGGTACATGTGCCAGATATGCAGGTTTGTTACATAGGTAAACGTGTGCCATGGTGGTTGGGCTAGCAACTATTAAAGAAAGCTTTATTTGTCCCTCTTCTTCCTGAGAAAAATTACCCTGGAAAGCTATACCTCTGGAAAATCCCAGACAAAATTCCTGGTTGATATGTAATCTCAATCAGCTGAAAAGGTAACCCCAAAATTTACCTGTGAGGATACCCCAAATTATTTGGGATAGCACAATTGTTTCCTTTTTGAGACTCAGGAAAATTTAGAATTAAGTGTAGAAATAGTGTTTTTAAATATAGGGAGATTTAAAAATAGAGACACAAATCAAACCCATAGATTACTATTTTCATATTAAATTT 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CCATCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGCAGAATGGTGTGAACTCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAAAGTTTAAGACCCTACCACCTGGGGTAAAGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGATGAGATGAATGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCCATCTCTACCAAAAATACAACAATTAGCTGGGCATGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGGCTGCATGAGCTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAATGCCATCTCTACTAAAAAATAAAAAATTAGCTGGGTGTGGTGGCGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGAATTGCTTGAACCTGGGAGGCAGAAGTTGCAGTGAGCCAAGATCAGGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAAATCAGCCAGGCGTGGTGGCAGTTGCCTGTAATCCCAGCTACACAGGAAGCTGAGGCAGAATTGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTGCAGCCTGGGAGACAGAGCAAGACTCCATCTCTAAATAAATAAATAAATAAATGAAAATAAAATAAAGACCCCACCACAGGAAAGAAAGCCTGGGGTTCCCCTACTGAACTGAGGTCCTTAAAGGGGAGCTGAAGTAGTCTTAAACTGGTGCCATCCCCTAGCTACCAGCAAAAGCAAATTCGTTCTGGAGGAAAACTTTCCTACCTACCAATCCAGGTCCATTGAACTTTCATAGATTAAAATCAAACAATAAGCTCAGAAACACCAATAAATACAGAAGAAGGTAAGCCACTAAGACTGAGTCAACAGAAATAATGAAAACCAGATTTAGTGCCCAAGTCAACAGAAAAAAAAAAAAAAAAAACAGATTTAGTTCTCCAAGGACAGCAAATACTGGAATTCCCAGATGTGATACACAGTGTAGCTATGCATGAATTGCTTTTTAAAAATAGAGGATAGGACGGGTGCAGTGGCTCATGCCTGTAATCCCAATACTTTGGGAGGTCAAAGTGGGAGGATTGCTTGAGTCCAGGAGTTCGAGACCATCTTGGGCAACATAGCGAGACCCTTTATCTATTATTTAAAAAAAAAAATAGAGGATATAATCAGGGAAGAGGGAATCTAGTCTCTATGTTCATGGAACATTAATTGCCTAGAAATAAAATCAGCCTCATTATTCAATTACCTTTTGAACAAATAAGTGAAAAAAAATCTATTATCAGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAAAAATTAGCTGGGAGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGGAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGACCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAATCTATTATCTTCTATAGGAATCACAAATAAAAGATGAAAAGTGTTGATAAGACCCATCTGTTAATGTTCATATATATTTTCGTTGCAGTACAGAATGATCTCATGTTATGATAATTGAGATTTTGTAAGTTCCAAAATACTTACAATTTATTATTGGTTGTTTATTTAATTATATGTGTATGTATACACATAGATGTGTATGTGTGTGTGTATAATATTTCATTTAACAAAATATTAAGGTTCTACCTACCTCCAAAAGCTTCTGCAATTGCCATACTTTCAATTCCACCTCCTAGTAACTTACTGGAAATAGAAAGAAAGCATTAGTAACAGGAATAGAAATAGAAATATTAAGAGAGGAGAAAGTATTCATATCATTAGTATCCTTCCTATCTATGTATCTATCTATCTATTCTATCATCTACCTATCTATCTACAGAACATGAACAGCAATTCTTGGCTGAACAAATAGCATGCCACTTGCTAGATCACAGGTTCTATTGTGTATGGGCAAGTGGATCAGCAAAACAAATGATAAGCCCTATCGTTCTTACTTCAATAGTAAATGGAACCTGGGAATACTGCATGCTGTAGGCTTAAAAAATAATAATAATAAATTATTTTAAGAAAAAACTTAAAAAAATAGTAAATGGGTTAGCAAGGCCTTATGTCTTACTAGTCTTTAGAATTGAATTGGAGTTACAGATCGTCTTAATTATTATTATTATTATTTTTTTTTTTTCGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGTGATCTTGGCTCACTGCAGCCTCCGCCTACCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCACGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCACCATATTGGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCATGCCCAGCCCATCTTAGTTATTAATTGGGTATTTAATATTGTGCTGGAACTATGTTTCTATAGTCAATTGAATTTTCAATGTTTTTTCTTTTTCTTTTTTGAGACAGAATCTTGTTCTGTCACCTGACACAGGGCTAATTTTTTATTTTTTGTATGGCTGGGGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTGAGGCTCAAGAGATCTGCCCACCTTGGCCTTCCAAAGTGCTGGGATTATAGACATGAGCCATCATGCCCGGCTTCAGTTTTTAATATACTGAAAAACATATGAAAAACAGGTATTAGGAAAATCCAGTGATTGTCATTATGGTCAGGTTATCTCACATAAACCAAATATTATGGAGGACATGTCAGAATAGTAAATGTCAAAGATGTTGTAGGTAATGCTAGCAGTTAGAAGAGTAACTGTCAGATTCTGACAGCATACATTTAATTGGTAGCCCAATGTTGTAGTGCATTTAAAGCTCTGAATAAGAAAAGGCCTAAATTTAAGTCATGATCTCATTCATTCATTAAATGCAACACATATTAATTGTGTTAATTGTGCTAAGACCTGGTAGGGGCACTTTAAAAACCTTGTATGTAGTCTATTAACATGATTTTTTGGGATGTGATCACAGGTCAGACAAAAATTTAAGATATATAGATAATCCAATACATTTACATTTACATAGTTTAAGAGAGCAATTTAAATGTAAATTGAAACAATGTTGGAAGTTATCCACAAATTTAGTGAGGGCTGCAGACTTCAATAAGGAAAAGAAAAATCTAGATAGTGTACCTGCACAACTTAAATCTAAAGGACATGGGCTAAGCGATCAACCCATTTGGAGGGAATACACTTGGAAATCTTATAGGCCCAGCAACTATTTTTTTCTTCAACTTTTATTTTAAATTCAGGGGTACATGTGCCAGATATGCAGGTTTGTTACATAGGTAAACGTGTGCCATGGTGGTTGGGCTAGCAACTATTAAAGAAAGCTTTATTTGTCCCTCTTCTTCCTGAGAAAAATTACCCTGGAAAGCTATACCTCTGGAAAATCCCAGACAAAATTCCTGGTTGATATGTAATCTCAATCAGCTGAAAAGGTAACCCCAAAATTTACCTGTGAGGATACCCCAAATTATTTGGGATAGCACAATTGTTTCCTTTTTGAGACTCAGGAAAATTTAGAATTAAGTGTAGAAATAGTGTTTTTAAATATAGGGAGATTTAAAAATAGAGACACAAATCAAACCCATAGATTACTATTTTCATATTAAATTT 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Task1_train_28829 | A variant on Chromosome 22 in gene PDGFB (platelet derived growth factor subunit B) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Basal ganglia calcification, idiopathic, 5 | GGTGGTCAGGGCAGACTTCTAGGAGGAGGTGACTTCTGAGCTGAGACTCTAATGAAGAGAAGGAGCTAGGCTTGTGGAGAGCTGGGAGAAGTGTTCTTCAGCCACAGCAGTGTGTGCTAAAGCCTTGAGGCAGAAACTCCATTAGTTACTGAAAGAGGCCTGCCCGGCGGGGGTGGCACAGGTGAAGGGTACTGGTTGGCAGAGACCAGAGAGCCAGCCAGGGGCTAATCCTCATGTAGGGCTCTCAGGCCAGGGAGGAACCTGGCTTGTGTCTCAGCAAGATGAAAAGAAAGCCTCCCGTGAATTTAACCGGGGGCGGGCCTGATCCCATTTCCATTTTTAAGACCGGCCCCTGCCCCCAGCTGCTGCAGGGGAAGGGGGCTGAGGGCTGAGCCTGGAAAGGTGGTTACCTCGCTGCTCCTGGGAACCCCCCGGGCTTCGGGTCACAGGCCGTGCAGCTGCCACTGTCTCACACTTGCATGCCAGGTGGTCTTCCAGCGTCACCGTGGCCTTCTTAAAGATTGGCTTCTTCCGCACAATCTCGATCTTTCTCACCTGGAGGACAGAGCCACAAAATGCCTCTGTAGAGACCACACAGCCAGGAGCCCGGGAAGCCCGAATGGCTTGCGCTTCCCACCCCGGTGTCCCCTGCAGCAATCTTTCCTCGAAAGCCCGGAGAGCAGGCTGTGGGGCAAAAGCTTTGGCCCAAACAATAGCAGGACCTTGACCTCTGCCCTTCTCGTAGCTTTTCCATCAAAACAAGCCCTCCCGACCTGGGGCCCCCCTCAGTGCCCCCAGAGAGGGACAGCCAGAAAGGCATTTCCGGGTTGAGCTGGGGCCTGCGGTATCCTCATTCCCGGAGCGCCAGCCAAGGTCAGGGCTGCGGCAGAGGCGGGAGATGGTTGTCTGGAAGGAAGTGGGGGGAGGCTTCATCTAGGAGGGAGGTGGGAACGGGGAGGTCAGATGTCAGGTGTCCATCCATAGAGCTGGAAGCATCGAGGACAGGAGATACCACGAGAGTGGGCAGTGGGGTGGAGTGACATTCGTAGTCTCAGGCGTGGGGCCCAAGCCAGGGAGGGAAGGTGGGCAGGAGGAGAGGCCACGGGCTGGTGGCAGGAGAAGGAAGTGCGGCTAAGCAGGCAGAGCATCGGGCAAGGGCCGGTGCTGAGCTAGAGAAATGCGCACTGCCCAGCCTGTGGGCGAGGCTGGCCTGGGGCGTGCAGGAATCTTTCCACAAGAAGCAGAAGCAGCAGCTTCTCTGACTCTGCCCCGACTAGGGTGAGACCAGGGTGCTCCCTGAGACAGCCTCTACTCTAGAATTTTCCCTGAGTCCAGTGTATGTATCCCCCGTCCCTCCGAAGAAAAGCAGGATCAGCATTCCACTGTTGTCAGGGGACCTGCCCCAGCTCCGCAGTGTCTATCACCTGGTGGGCCTCTCTGCACTCTCTTTATTAAAGACACAGCTTGTCAAAGAGAGACAAGCAGGTGTCAAAGATGCAGGGCCACCCATCTGAGCCTTTCTCAAGACAGCCCTGAATAGGGAGAGCTTTGGGGGAACCTGAGTAGCTCCCCAAAACATTCTGAGTGTCAGATAAATGTTTGCGGATACGGCTCTTCAAGGGACGTTTTGCGATTTTGTCCTTGTAAAGGAGGTGACATCCCTACTTCACGTTGGCTCCACACCTCGCCCAGCCCGGGGGGTCTGTCTGTGGCTTTTGGCTACAGTGGCCTGAGCCACCTCAGAGGACTCATGGTCGGCCTCAGTCCACCTGCCTAGGAAGAGCTTCCCAAGAGTGGGCCTCTCTGGACAGAGCCCAGGAACAAATCAGGAATGTCCTTCGACACACCACTCTGCCCAGTCAAGGAAGCCTGGTCAGGTATGAGCCCCAGAAGGGTGGTCTCCACCCACCACCGGGACCAGCCTCGGGGGGCCGCGGAGCCTACGCACCTGGACAGGTCGCAGCTGCACCTGGGTGGGGCGGCACTGCACGTTGCGGTTGTTGCAGCAGCCGGAGCAGCGCTGCACCTCCACACAGGGCGGCCACACCAGGAAGTTGGCGTTGGTGCGGTCTATGAGGCGCCGGGAGATCTCGAACACCTCGGTGCGCGTCTTGCACTCGGCGATCATGGCCGGCTCAGCAATGGTCAGGGAACCTGGGAGGAGACGAAACCTGGGTCAGGAGCGTAGGCCTGTCCAGAGTCCCCCCACTTGGCAGGGGAGCTCAGCGGGTGCCTCCGGGACTGCTCTTTCTCACGCCCTTCAACCCCAGGGTTCAGGTTTCAAGTCCTGGCTGTCATTAGCCATGGGACTTGGGCAGATGGCTGAGCCACTCTAAGCCTGTGTTTCCCCATCTGAAAATGGGACCATGAGATCTACACCCAAGAACCACTGTAGTTTCAAGTGAGAAAATTCAGAGTGTGGGGCATGTTGTAAATGCTTAGTAAATGTCCGCTTCCCTCTGCTGGCACATGACTATTTTATTCTTCTTTATGATTTTACACATTTATGGGCTTGCCCAACATGTGGTTTTTATGCAGGTACCATATTAGCTCGAAACCACGCGTGCACTGCTGTCTCACGGTGCCTTGGATTCCTGCATCACTGCTGCTTTCAAAGCCTCAGCTTCCTCCTCTATGAAATGGGATAATAACAGCACCTCCCTCCCATGTGGATCTAAGGTGTAAAGTGAGTAAGCCTTGCCTACAGCAAGCACTGAGGTTACCGATGCTATCCATGTACAGAGGACAGGAGGCTCTGAGAGCTGAATATCCCGTCCGCCCACATTCATAGATTGGGGGTGGAACTCAGGCCACCTGACTTTTTTCTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGTGGTCTCGGCTAACTGCAACCTCCGCCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCATGGACTACAGGAACCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATGTCGGTCAGGATGATCTCCATCTCTTGACCTCGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCATGCCCGGCCCAGGCCACCTGACTCTTATTCATCGTTCCCCCAGCCTCTAACTGCAGTGTTTTGGGGACTCCAGGTGTCAAAGAGGAGGAGGGGTTTGAGTGGACATTTGCCTCACCTGGGAGGGTTTCTCTGGGACCTAATGATCTACGGTCTCCTTTAGGTCTCTGCAAGGGAGCAGGAGGAAGTTCCAGGCTTTGCTCGAGGTCTACCAGCCTAGGCCGCGGCCCTTTGCCACAGGAGATACCCATAGCCCATCAGGGACCACGCTGGGTTCAAGTGAGGGGAGCAGGTTGGGATCTCAGCCCTACCGCTCCCTAGCAGTGTGACCTCGCCTAGTTCTTTACCCTCTCTGGGCCCCAGTTTCCAACTCTGTGAAATGGGGTTAATAATATCTACCTCCAGGATTGAAATAAGGAACGAATGAGCTTTGCAGCACTATATTTAGAAACCAGAGAGTGTGGGGGCGAGGGGCTGTGATGACTGAACACAGGCATTTAAGGATGGTTTTACTCTCTCAGTTCGCTCAGTCCTGAATGTGGGGGGAACGGGAGTTGTAAGAGGACCCTCGGGGCCCTCCGACTGGCTGCCCGCCCCCGTTCTCTTTCCCTGGCCCCCATGCTAATTTGAAGGACCCTTGTTGGGTGTCTCAGTCTTACCCAGGCTCCTTCTTCCACGAGCCAAGCTCTCCAGCTCGCCTCCAGAGTGGGAGCGGGTCATGTTCAGGTCCAACTCGGCCCCATCTTCCTCTGCAGGAGAAGTCACAGTCAGACACCAGGCGGCCCCACCTTGGGCAGGGGCTCCCTCCGCCGGGGTGTCTGGGCAGGCGGGAGGTTTGCCTCTCCCCCACTCCAGAGAACAGTCCCTCCTTCCAGCCCCCATAAATGCACGGGTCCTGGCCCTGAGCAGGGACCCTCCAAGCAGCCCCCAGGACAGCTGCAGGCCCAGGATCCTGACTGCATCCCTGGCTCTTTAGCCAACATTTTTGGCCAGA 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GGTGGTCAGGGCAGACTTCTAGGAGGAGGTGACTTCTGAGCTGAGACTCTAATGAAGAGAAGGAGCTAGGCTTGTGGAGAGCTGGGAGAAGTGTTCTTCAGCCACAGCAGTGTGTGCTAAAGCCTTGAGGCAGAAACTCCATTAGTTACTGAAAGAGGCCTGCCCGGCGGGGGTGGCACAGGTGAAGGGTACTGGTTGGCAGAGACCAGAGAGCCAGCCAGGGGCTAATCCTCATGTAGGGCTCTCAGGCCAGGGAGGAACCTGGCTTGTGTCTCAGCAAGATGAAAAGAAAGCCTCCCGTGAATTTAACCGGGGGCGGGCCTGATCCCATTTCCATTTTTAAGACCGGCCCCTGCCCCCAGCTGCTGCAGGGGAAGGGGGCTGAGGGCTGAGCCTGGAAAGGTGGTTACCTCGCTGCTCCTGGGAACCCCCCGGGCTTCGGGTCACAGGCCGTGCAGCTGCCACTGTCTCACACTTGCATGCCAGGTGGTCTTCCAGCGTCACCGTGGCCTTCTTAAAGATTGGCTTCTTCCGCACAATCTCGATCTTTCTCACCTGGAGGACAGAGCCACAAAATGCCTCTGTAGAGACCACACAGCCAGGAGCCCGGGAAGCCCGAATGGCTTGCGCTTCCCACCCCGGTGTCCCCTGCAGCAATCTTTCCTCGAAAGCCCGGAGAGCAGGCTGTGGGGCAAAAGCTTTGGCCCAAACAATAGCAGGACCTTGACCTCTGCCCTTCTCGTAGCTTTTCCATCAAAACAAGCCCTCCCGACCTGGGGCCCCCCTCAGTGCCCCCAGAGAGGGACAGCCAGAAAGGCATTTCCGGGTTGAGCTGGGGCCTGCGGTATCCTCATTCCCGGAGCGCCAGCCAAGGTCAGGGCTGCGGCAGAGGCGGGAGATGGTTGTCTGGAAGGAAGTGGGGGGAGGCTTCATCTAGGAGGGAGGTGGGAACGGGGAGGTCAGATGTCAGGTGTCCATCCATAGAGCTGGAAGCATCGAGGACAGGAGATACCACGAGAGTGGGCAGTGGGGTGGAGTGACATTCGTAGTCTCAGGCGTGGGGCCCAAGCCAGGGAGGGAAGGTGGGCAGGAGGAGAGGCCACGGGCTGGTGGCAGGAGAAGGAAGTGCGGCTAAGCAGGCAGAGCATCGGGCAAGGGCCGGTGCTGAGCTAGAGAAATGCGCACTGCCCAGCCTGTGGGCGAGGCTGGCCTGGGGCGTGCAGGAATCTTTCCACAAGAAGCAGAAGCAGCAGCTTCTCTGACTCTGCCCCGACTAGGGTGAGACCAGGGTGCTCCCTGAGACAGCCTCTACTCTAGAATTTTCCCTGAGTCCAGTGTATGTATCCCCCGTCCCTCCGAAGAAAAGCAGGATCAGCATTCCACTGTTGTCAGGGGACCTGCCCCAGCTCCGCAGTGTCTATCACCTGGTGGGCCTCTCTGCACTCTCTTTATTAAAGACACAGCTTGTCAAAGAGAGACAAGCAGGTGTCAAAGATGCAGGGCCACCCATCTGAGCCTTTCTCAAGACAGCCCTGAATAGGGAGAGCTTTGGGGGAACCTGAGTAGCTCCCCAAAACATTCTGAGTGTCAGATAAATGTTTGCGGATACGGCTCTTCAAGGGACGTTTTGCGATTTTGTCCTTGTAAAGGAGGTGACATCCCTACTTCACGTTGGCTCCACACCTCGCCCAGCCCGGGGGGTCTGTCTGTGGCTTTTGGCTACAGTGGCCTGAGCCACCTCAGAGGACTCATGGTCGGCCTCAGTCCACCTGCCTAGGAAGAGCTTCCCAAGAGTGGGCCTCTCTGGACAGAGCCCAGGAACAAATCAGGAATGTCCTTCGACACACCACTCTGCCCAGTCAAGGAAGCCTGGTCAGGTATGAGCCCCAGAAGGGTGGTCTCCACCCACCACCGGGACCAGCCTCGGGGGGCCGCGGAGCCTACGCACCTGGACAGGTCGCAGCTGCACCTGGGTGGGGCGGCACTGCACGTTGCGGTTGTTGCAGCAGCCGGAGCAGCGCTGCACCTCCACACAGGGCGGCCACACCGGGAAGTTGGCGTTGGTGCGGTCTATGAGGCGCCGGGAGATCTCGAACACCTCGGTGCGCGTCTTGCACTCGGCGATCATGGCCGGCTCAGCAATGGTCAGGGAACCTGGGAGGAGACGAAACCTGGGTCAGGAGCGTAGGCCTGTCCAGAGTCCCCCCACTTGGCAGGGGAGCTCAGCGGGTGCCTCCGGGACTGCTCTTTCTCACGCCCTTCAACCCCAGGGTTCAGGTTTCAAGTCCTGGCTGTCATTAGCCATGGGACTTGGGCAGATGGCTGAGCCACTCTAAGCCTGTGTTTCCCCATCTGAAAATGGGACCATGAGATCTACACCCAAGAACCACTGTAGTTTCAAGTGAGAAAATTCAGAGTGTGGGGCATGTTGTAAATGCTTAGTAAATGTCCGCTTCCCTCTGCTGGCACATGACTATTTTATTCTTCTTTATGATTTTACACATTTATGGGCTTGCCCAACATGTGGTTTTTATGCAGGTACCATATTAGCTCGAAACCACGCGTGCACTGCTGTCTCACGGTGCCTTGGATTCCTGCATCACTGCTGCTTTCAAAGCCTCAGCTTCCTCCTCTATGAAATGGGATAATAACAGCACCTCCCTCCCATGTGGATCTAAGGTGTAAAGTGAGTAAGCCTTGCCTACAGCAAGCACTGAGGTTACCGATGCTATCCATGTACAGAGGACAGGAGGCTCTGAGAGCTGAATATCCCGTCCGCCCACATTCATAGATTGGGGGTGGAACTCAGGCCACCTGACTTTTTTCTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGTGGTCTCGGCTAACTGCAACCTCCGCCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCATGGACTACAGGAACCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATGTCGGTCAGGATGATCTCCATCTCTTGACCTCGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCATGCCCGGCCCAGGCCACCTGACTCTTATTCATCGTTCCCCCAGCCTCTAACTGCAGTGTTTTGGGGACTCCAGGTGTCAAAGAGGAGGAGGGGTTTGAGTGGACATTTGCCTCACCTGGGAGGGTTTCTCTGGGACCTAATGATCTACGGTCTCCTTTAGGTCTCTGCAAGGGAGCAGGAGGAAGTTCCAGGCTTTGCTCGAGGTCTACCAGCCTAGGCCGCGGCCCTTTGCCACAGGAGATACCCATAGCCCATCAGGGACCACGCTGGGTTCAAGTGAGGGGAGCAGGTTGGGATCTCAGCCCTACCGCTCCCTAGCAGTGTGACCTCGCCTAGTTCTTTACCCTCTCTGGGCCCCAGTTTCCAACTCTGTGAAATGGGGTTAATAATATCTACCTCCAGGATTGAAATAAGGAACGAATGAGCTTTGCAGCACTATATTTAGAAACCAGAGAGTGTGGGGGCGAGGGGCTGTGATGACTGAACACAGGCATTTAAGGATGGTTTTACTCTCTCAGTTCGCTCAGTCCTGAATGTGGGGGGAACGGGAGTTGTAAGAGGACCCTCGGGGCCCTCCGACTGGCTGCCCGCCCCCGTTCTCTTTCCCTGGCCCCCATGCTAATTTGAAGGACCCTTGTTGGGTGTCTCAGTCTTACCCAGGCTCCTTCTTCCACGAGCCAAGCTCTCCAGCTCGCCTCCAGAGTGGGAGCGGGTCATGTTCAGGTCCAACTCGGCCCCATCTTCCTCTGCAGGAGAAGTCACAGTCAGACACCAGGCGGCCCCACCTTGGGCAGGGGCTCCCTCCGCCGGGGTGTCTGGGCAGGCGGGAGGTTTGCCTCTCCCCCACTCCAGAGAACAGTCCCTCCTTCCAGCCCCCATAAATGCACGGGTCCTGGCCCTGAGCAGGGACCCTCCAAGCAGCCCCCAGGACAGCTGCAGGCCCAGGATCCTGACTGCATCCCTGGCTCTTTAGCCAACATTTTTGGCCAGA 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Task1_train_28830 | Gene PDGFB (platelet derived growth factor subunit B), found on Chromosome 22, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Basal ganglia calcification, idiopathic, 5 | AAAAAAGTAGGTGCTGTGGTGCTGATGGGAGGTTCTCCCTCCCTCACAGGACGCCAGGAAGGAAATGGGGCCGCTACAGAGGTGGTGAGGTGCCAGGGCCCACGGAGGGCCCACCTGTTGCGCGGGGGCGAGCACCAGGCGCTGGGTGCACGGGGGCCCGTGCGTGCCTGTGTACGTGCGTGGGTGTGCGCGCACGTGTGCTCAGGCCGCGCGTGCAGGGGCCGTGCGTGCGTTTGTGTGCGGTGCGCGCGCGTGTGTCCCGCGTGTGCACGGGCGTGGCAGAGGCGGGCGCGCGACCTGGCCGCGGTAGTGCGTGCCCGTCGCTCTGCGCGCCCGCCCGCCGGAGCGCAGCATCGCCTCCGGCCAGGAGTGTGCATGCGTGGGGTGAGTGAGCGAGTCGGGGGCCCGGGCGGGGTGGGCTGCGGAGAGCAGCCACGGGGCGCCGCCGTTCCCAGGACGCCCTGGCACCGGGCCCAGCCCCCAGGTCCCACGGCGAGGCGAGGCGGCAGCTGGGGCCGGCCGGCCACCCCCTCCCCAACAGCTGGCCGCGGCCCGGGGGGCTGCGGGAGAGGCGGAGAGGGGGCGTCGGGAGGGGCCTGAAGGCGGCCCGGCCGAGCCCCGCGTCCTCCCTCCCGGGTGCGGGCCGCGGGGGGCGGCCGCGGAAGGGCGGGGCCCCCGGGCGGGCGGCCTGCGGCCCTCGAGGAGCCCCGAGAACAAAAGGAGACGGCGACGGCTCCTCCGTGGTCAAAACAACCTGCGCTGGCGGCAGCCCAAGGCCGGGCCGCGGCCTCCGAGCCCTCCGCCTTAACCCCTTCGCCGCCGCTGCCTCCTTCCTGCGCCTGGCTGGAGGCCGCAGGGGCCGACCCTCCCCGGGAGCCGGCGAGGTGCGGGCGAGGTGCGGACTCCCGGCCGCAGCCGGGCGGAGGTGGGACGGTACCCAGTCACGCCGCGCTCCCGGCTGCCCTCTCCTCCCCTCCACCGCGCGCGTCGTCCTGCCCCGCCCCCTTTCCCACCTGGATTCCGGGTAGACTTGCCAACTCACGGCTACGTGAGGCTGGGAGGGGTGGGGACGGCTCCGACCCCAGCGCTCCCTCAGATGTTTTTATACCCCATCTCCCGTGCAGCTAGGCTTTTGCAGGCGGCGCGCTCCGCACCCTGCATGCGGGGGAGAGAGGTGCTTCCTCCTGCAGGGCGCGGGCACAGGTACGGCAAGGCCTCAGGCACACAGCGCCCCGGGGGCTGGATTCCTTCAGAGCCCCTAGTCCTCCCCCTACCCGAGTGCCCGAAACCTACCTGCGTCTCTATCTTTCTCTCCCTCTCTCTCTCCGTCTCTCTCTCCGTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCCCTGTTACTCCCACCCCAAACCCCGCGCCCGAGACACAAGCTGCTTCCAGACCGTGCTCTGGGGCCGGGCATGCCCTGCGCGTGCCGGAGGGCGTCCACCCGGACCCCGACCGGGAGCCAGGGTGGGACCCGAGCCCCGTCAAAGGTCGGCGTGGATGGCACCGGTGCGCAAGCTTGCACCTCCTGGGCAAGCCGATGGCAGGACAGAGCCTAAGCCGAGGCTGGCGCCGAAGTGGGCTCGGGAGGACGCGCTGCCTTCTGCACCCTGGGCACCACCCCACCCCCTCTCCCCCGGCCGGGAAGGGGCTTGTTCTCGGGTTCCCAAAGGGTGGGGGACAGGGCCACACACACCCTCCCCCGACACGGAACGGCTTAGGGAGCCAGATTCGCCCGCCGGTTGGAAAGAAAGCCACCGCTGTTGCCTTCCCTTAGAGCCTGTCACCCCCGGACCTCGCTCCCAGCCCGAAGAGGTCACCCAGCGCCCGGCGTCAGGCTCGCGGGCTGCAAGGGTCCAAAGTTCACTGCAGGGAGAGGAGGGGGCGGTCAGAAGGGGGGGGCGAAGGTAATGAATGAAGAACCAGCCCCAGCCGCCGTGGCAACTCACCTCGGCGCTGACCAGACGCAGGTAGCAGCAGAGAGACAGGAAGAGCGCCCAGCAGCGATTCATGCCGACTCCGGGCCCGGCCCCGCGGGGCCCCGGACGCGTAGATCGAGCGCGCCGCCCCCGCGGCCAGGGTGGGGGGCTGGGGAGGGGGGTGGGCTCGGCTCGGGTCCGCGGCGATCAGGCGCTCAGGCCTCTGCAGCCGCGGCTCACCCGCATGGCCCCCGGGCGCCGCCGCCCCCGGCCCCGGCTCCGTCGCTGGGGGGCAGGGGAGGACCTGGGCGCAGGACCTGGGTCCGAGGCCGCTACCTGGGCGGATCCCGAGCCCGAGTGAGCATCCACGGCCGGGGGGCTGCGTCGCGAACCAGCCGAGGCGTCTAGCCGTGTGGGGGCGCCCAGGGGACTCCAACCTCCAAGAGGAAAAGGAACACGGCAGTCGATGGTTCGTCTTCACTCGCCGGCTACAGGCGTTTTCCTCTGCCCGCCGGCTTAGCTTTTTTGCAACATTTTCTGGAAAGGCCCCCAAAATCGGAAAGCGCGGAGCTGGGCACCTCAAGGCCCAAGTCTCCCCCAAAAAACTTTTTCCAAAGTTGGCTTTGCAACGGCAGCTCGAGCACCCGGGCAGGGAGAGGTGCAAACTCCCGCCCGGGCCGGGTAGGGGGGCGGGAGCGTGTGCGCCCTGGCGCGGGGCCCGGGCGGCGGGCACGGCTGCTCCGCGCGCGCGGCGTGCCCGCTGCGCGCTCGGCTGGGCCCGGCCGACAGGTGGACGCGGCGCGAGTCCGTCGGTCCGTCTGCCCGCCCGCTCGCCGCTCTGGGCGTCCTCTGCGGGCTGCGGGCTGCGAGCTGCGAGCTGCGAGCTGCGGCTGCTCCGGTTTTCTCTTTGCAGCGAGGCTGGAGGGTGGGCTTTTTTTTTTTTTTTTCCTTTTTGCGCGCGTATGTATGTGTGTGCGCGCAAAGTATCTCTATCTAGGGAATGAAAAATGGGCGCTGGCGGCCGGAGGGGAGCCCTAGGGAGGCAGCGGGGGAGGCTGCGGGTGCGCAGGGAGGCAGGCAGGCCGCTCCCGGCTGCAGGAGGAGAAGTTGCCACCCTTTCAGCTGTTCCGGCCTTTATAAAGGAGAAGGGAGAGTGCGAGAGGTGGGTGGAGACAGCCTTTCCTCTTCTGGCCCGGAGTCAGCGCCAGGAGGGGGGGGACGCGGGAGCTGGGGGAGGGCTTGGGGCCAGGGCGGGGCGCTTAGGGGGTCTCTGAGAGCCGAGCAACCCTTCAGTCCATGAATCTGGCCCTGGGGAAAAAAGAACTAGGGGTGACCCACCGTCCCGCCCCTCAGCACAGTGACCATGGACAGGTTAGGAGCCCACGTGGTCTAGGGGGATGTCTCCAGAGCCAAGGCCAGGAGTCCACGCTCCCCTCCAGGACCAGACATTTCCACCCTGGCACAGGCATGGCAGGGAGGGACTCAGGCTCTGCAGTCTGAGAGCCTGAATTCAGATCCTGCCCTGGCACTCGGGAGCTTGGGTCACCTTGGGCAAGTCACTTCCCTCTGTCCCCTCCATCTAGCCTCAACCTGGAGATGGGGCTATTGTAAGGACTCAGTGTTAGCAAGGGAAGACACCGCAAGGTGAACCCACAGAACCCGGCAGCCAGCGCCCTTCAGCTGCAAGCTGGGTCCGAGTCTCCTCCTCCTAGCTGGTTGCCTGGCACAACAGGCCCTGCCAGCGTTGGCTGAATTTGAATTTGTTGAACTGCAAAGTCACACAAACCCCCACAGCCCTGCAGCATCTTCGCAGGGCTACCAACATGATCTTCCCGTCAGTCACCCTGCTGTTTACTATCTCCCTCAGCCCCCGGGTTCGAGGCCCAGAGCCCACCCACCCACAACCAGCCTTCACACAGTTAACGCCTTCTGCCCCCAGTCAGGGAGCTGCTGTGTCCCTGCCTTCAGCAGTCACACTGTCTCAGTCACAGTCACACGTACTCACACTGGGCCCAGCACCCCCCTCGGGACACGCAGGCTCCTGCATCACCCAGCCTCCCGGCTTTGAGGCACCCTCATCTCCTCCGCTTGCACTGTCTCTGTTATCCGCCCTTCCCTTTGGGATGTCAGCCTGCTTC 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AAAAAAGTAGGTGCTGTGGTGCTGATGGGAGGTTCTCCCTCCCTCACAGGACGCCAGGAAGGAAATGGGGCCGCTACAGAGGTGGTGAGGTGCCAGGGCCCACGGAGGGCCCACCTGTTGCGCGGGGGCGAGCACCAGGCGCTGGGTGCACGGGGGCCCGTGCGTGCCTGTGTACGTGCGTGGGTGTGCGCGCACGTGTGCTCAGGCCGCGCGTGCAGGGGCCGTGCGTGCGTTTGTGTGCGGTGCGCGCGCGTGTGTCCCGCGTGTGCACGGGCGTGGCAGAGGCGGGCGCGCGACCTGGCCGCGGTAGTGCGTGCCCGTCGCTCTGCGCGCCCGCCCGCCGGAGCGCAGCATCGCCTCCGGCCAGGAGTGTGCATGCGTGGGGTGAGTGAGCGAGTCGGGGGCCCGGGCGGGGTGGGCTGCGGAGAGCAGCCACGGGGCGCCGCCGTTCCCAGGACGCCCTGGCACCGGGCCCAGCCCCCAGGTCCCACGGCGAGGCGAGGCGGCAGCTGGGGCCGGCCGGCCACCCCCTCCCCAACAGCTGGCCGCGGCCCGGGGGGCTGCGGGAGAGGCGGAGAGGGGGCGTCGGGAGGGGCCTGAAGGCGGCCCGGCCGAGCCCCGCGTCCTCCCTCCCGGGTGCGGGCCGCGGGGGGCGGCCGCGGAAGGGCGGGGCCCCCGGGCGGGCGGCCTGCGGCCCTCGAGGAGCCCCGAGAACAAAAGGAGACGGCGACGGCTCCTCCGTGGTCAAAACAACCTGCGCTGGCGGCAGCCCAAGGCCGGGCCGCGGCCTCCGAGCCCTCCGCCTTAACCCCTTCGCCGCCGCTGCCTCCTTCCTGCGCCTGGCTGGAGGCCGCAGGGGCCGACCCTCCCCGGGAGCCGGCGAGGTGCGGGCGAGGTGCGGACTCCCGGCCGCAGCCGGGCGGAGGTGGGACGGTACCCAGTCACGCCGCGCTCCCGGCTGCCCTCTCCTCCCCTCCACCGCGCGCGTCGTCCTGCCCCGCCCCCTTTCCCACCTGGATTCCGGGTAGACTTGCCAACTCACGGCTACGTGAGGCTGGGAGGGGTGGGGACGGCTCCGACCCCAGCGCTCCCTCAGATGTTTTTATACCCCATCTCCCGTGCAGCTAGGCTTTTGCAGGCGGCGCGCTCCGCACCCTGCATGCGGGGGAGAGAGGTGCTTCCTCCTGCAGGGCGCGGGCACAGGTACGGCAAGGCCTCAGGCACACAGCGCCCCGGGGGCTGGATTCCTTCAGAGCCCCTAGTCCTCCCCCTACCCGAGTGCCCGAAACCTACCTGCGTCTCTATCTTTCTCTCCCTCTCTCTCTCCGTCTCTCTCTCCGTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCCCTGTTACTCCCACCCCAAACCCCGCGCCCGAGACACAAGCTGCTTCCAGACCGTGCTCTGGGGCCGGGCATGCCCTGCGCGTGCCGGAGGGCGTCCACCCGGACCCCGACCGGGAGCCAGGGTGGGACCCGAGCCCCGTCAAAGGTCGGCGTGGATGGCACCGGTGCGCAAGCTTGCACCTCCTGGGCAAGCCGATGGCAGGACAGAGCCTAAGCCGAGGCTGGCGCCGAAGTGGGCTCGGGAGGACGCGCTGCCTTCTGCACCCTGGGCACCACCCCACCCCCTCTCCCCCGGCCGGGAAGGGGCTTGTTCTCGGGTTCCCAAAGGGTGGGGGACAGGGCCACACACACCCTCCCCCGACACGGAACGGCTTAGGGAGCCAGATTCGCCCGCCGGTTGGAAAGAAAGCCACCGCTGTTGCCTTCCCTTAGAGCCTGTCACCCCCGGACCTCGCTCCCAGCCCGAAGAGGTCACCCAGCGCCCGGCGTCAGGCTCGCGGGCTGCAAGGGTCCAAAGTTCACTGCAGGGAGAGGAGGGGGCGGTCAGAAGGGGGGGGCGAAGGTAATGAATGAAGAACCAGCCCCAGCCGCCGTGGCAACTCACCTCGGCGCTGACCAGACGCAGGTAGCAGCAGAGAGACAGGAAGAGCGCCCAGCAGCGATTTATGCCGACTCCGGGCCCGGCCCCGCGGGGCCCCGGACGCGTAGATCGAGCGCGCCGCCCCCGCGGCCAGGGTGGGGGGCTGGGGAGGGGGGTGGGCTCGGCTCGGGTCCGCGGCGATCAGGCGCTCAGGCCTCTGCAGCCGCGGCTCACCCGCATGGCCCCCGGGCGCCGCCGCCCCCGGCCCCGGCTCCGTCGCTGGGGGGCAGGGGAGGACCTGGGCGCAGGACCTGGGTCCGAGGCCGCTACCTGGGCGGATCCCGAGCCCGAGTGAGCATCCACGGCCGGGGGGCTGCGTCGCGAACCAGCCGAGGCGTCTAGCCGTGTGGGGGCGCCCAGGGGACTCCAACCTCCAAGAGGAAAAGGAACACGGCAGTCGATGGTTCGTCTTCACTCGCCGGCTACAGGCGTTTTCCTCTGCCCGCCGGCTTAGCTTTTTTGCAACATTTTCTGGAAAGGCCCCCAAAATCGGAAAGCGCGGAGCTGGGCACCTCAAGGCCCAAGTCTCCCCCAAAAAACTTTTTCCAAAGTTGGCTTTGCAACGGCAGCTCGAGCACCCGGGCAGGGAGAGGTGCAAACTCCCGCCCGGGCCGGGTAGGGGGGCGGGAGCGTGTGCGCCCTGGCGCGGGGCCCGGGCGGCGGGCACGGCTGCTCCGCGCGCGCGGCGTGCCCGCTGCGCGCTCGGCTGGGCCCGGCCGACAGGTGGACGCGGCGCGAGTCCGTCGGTCCGTCTGCCCGCCCGCTCGCCGCTCTGGGCGTCCTCTGCGGGCTGCGGGCTGCGAGCTGCGAGCTGCGAGCTGCGGCTGCTCCGGTTTTCTCTTTGCAGCGAGGCTGGAGGGTGGGCTTTTTTTTTTTTTTTTCCTTTTTGCGCGCGTATGTATGTGTGTGCGCGCAAAGTATCTCTATCTAGGGAATGAAAAATGGGCGCTGGCGGCCGGAGGGGAGCCCTAGGGAGGCAGCGGGGGAGGCTGCGGGTGCGCAGGGAGGCAGGCAGGCCGCTCCCGGCTGCAGGAGGAGAAGTTGCCACCCTTTCAGCTGTTCCGGCCTTTATAAAGGAGAAGGGAGAGTGCGAGAGGTGGGTGGAGACAGCCTTTCCTCTTCTGGCCCGGAGTCAGCGCCAGGAGGGGGGGGACGCGGGAGCTGGGGGAGGGCTTGGGGCCAGGGCGGGGCGCTTAGGGGGTCTCTGAGAGCCGAGCAACCCTTCAGTCCATGAATCTGGCCCTGGGGAAAAAAGAACTAGGGGTGACCCACCGTCCCGCCCCTCAGCACAGTGACCATGGACAGGTTAGGAGCCCACGTGGTCTAGGGGGATGTCTCCAGAGCCAAGGCCAGGAGTCCACGCTCCCCTCCAGGACCAGACATTTCCACCCTGGCACAGGCATGGCAGGGAGGGACTCAGGCTCTGCAGTCTGAGAGCCTGAATTCAGATCCTGCCCTGGCACTCGGGAGCTTGGGTCACCTTGGGCAAGTCACTTCCCTCTGTCCCCTCCATCTAGCCTCAACCTGGAGATGGGGCTATTGTAAGGACTCAGTGTTAGCAAGGGAAGACACCGCAAGGTGAACCCACAGAACCCGGCAGCCAGCGCCCTTCAGCTGCAAGCTGGGTCCGAGTCTCCTCCTCCTAGCTGGTTGCCTGGCACAACAGGCCCTGCCAGCGTTGGCTGAATTTGAATTTGTTGAACTGCAAAGTCACACAAACCCCCACAGCCCTGCAGCATCTTCGCAGGGCTACCAACATGATCTTCCCGTCAGTCACCCTGCTGTTTACTATCTCCCTCAGCCCCCGGGTTCGAGGCCCAGAGCCCACCCACCCACAACCAGCCTTCACACAGTTAACGCCTTCTGCCCCCAGTCAGGGAGCTGCTGTGTCCCTGCCTTCAGCAGTCACACTGTCTCAGTCACAGTCACACGTACTCACACTGGGCCCAGCACCCCCCTCGGGACACGCAGGCTCCTGCATCACCCAGCCTCCCGGCTTTGAGGCACCCTCATCTCCTCCGCTTGCACTGTCTCTGTTATCCGCCCTTCCCTTTGGGATGTCAGCCTGCTTC 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Task1_train_28831 | A variant found in Chromosome 22 affects PDGFB (platelet derived growth factor subunit B). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | AAAAAGTAGGTGCTGTGGTGCTGATGGGAGGTTCTCCCTCCCTCACAGGACGCCAGGAAGGAAATGGGGCCGCTACAGAGGTGGTGAGGTGCCAGGGCCCACGGAGGGCCCACCTGTTGCGCGGGGGCGAGCACCAGGCGCTGGGTGCACGGGGGCCCGTGCGTGCCTGTGTACGTGCGTGGGTGTGCGCGCACGTGTGCTCAGGCCGCGCGTGCAGGGGCCGTGCGTGCGTTTGTGTGCGGTGCGCGCGCGTGTGTCCCGCGTGTGCACGGGCGTGGCAGAGGCGGGCGCGCGACCTGGCCGCGGTAGTGCGTGCCCGTCGCTCTGCGCGCCCGCCCGCCGGAGCGCAGCATCGCCTCCGGCCAGGAGTGTGCATGCGTGGGGTGAGTGAGCGAGTCGGGGGCCCGGGCGGGGTGGGCTGCGGAGAGCAGCCACGGGGCGCCGCCGTTCCCAGGACGCCCTGGCACCGGGCCCAGCCCCCAGGTCCCACGGCGAGGCGAGGCGGCAGCTGGGGCCGGCCGGCCACCCCCTCCCCAACAGCTGGCCGCGGCCCGGGGGGCTGCGGGAGAGGCGGAGAGGGGGCGTCGGGAGGGGCCTGAAGGCGGCCCGGCCGAGCCCCGCGTCCTCCCTCCCGGGTGCGGGCCGCGGGGGGCGGCCGCGGAAGGGCGGGGCCCCCGGGCGGGCGGCCTGCGGCCCTCGAGGAGCCCCGAGAACAAAAGGAGACGGCGACGGCTCCTCCGTGGTCAAAACAACCTGCGCTGGCGGCAGCCCAAGGCCGGGCCGCGGCCTCCGAGCCCTCCGCCTTAACCCCTTCGCCGCCGCTGCCTCCTTCCTGCGCCTGGCTGGAGGCCGCAGGGGCCGACCCTCCCCGGGAGCCGGCGAGGTGCGGGCGAGGTGCGGACTCCCGGCCGCAGCCGGGCGGAGGTGGGACGGTACCCAGTCACGCCGCGCTCCCGGCTGCCCTCTCCTCCCCTCCACCGCGCGCGTCGTCCTGCCCCGCCCCCTTTCCCACCTGGATTCCGGGTAGACTTGCCAACTCACGGCTACGTGAGGCTGGGAGGGGTGGGGACGGCTCCGACCCCAGCGCTCCCTCAGATGTTTTTATACCCCATCTCCCGTGCAGCTAGGCTTTTGCAGGCGGCGCGCTCCGCACCCTGCATGCGGGGGAGAGAGGTGCTTCCTCCTGCAGGGCGCGGGCACAGGTACGGCAAGGCCTCAGGCACACAGCGCCCCGGGGGCTGGATTCCTTCAGAGCCCCTAGTCCTCCCCCTACCCGAGTGCCCGAAACCTACCTGCGTCTCTATCTTTCTCTCCCTCTCTCTCTCCGTCTCTCTCTCCGTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCCCTGTTACTCCCACCCCAAACCCCGCGCCCGAGACACAAGCTGCTTCCAGACCGTGCTCTGGGGCCGGGCATGCCCTGCGCGTGCCGGAGGGCGTCCACCCGGACCCCGACCGGGAGCCAGGGTGGGACCCGAGCCCCGTCAAAGGTCGGCGTGGATGGCACCGGTGCGCAAGCTTGCACCTCCTGGGCAAGCCGATGGCAGGACAGAGCCTAAGCCGAGGCTGGCGCCGAAGTGGGCTCGGGAGGACGCGCTGCCTTCTGCACCCTGGGCACCACCCCACCCCCTCTCCCCCGGCCGGGAAGGGGCTTGTTCTCGGGTTCCCAAAGGGTGGGGGACAGGGCCACACACACCCTCCCCCGACACGGAACGGCTTAGGGAGCCAGATTCGCCCGCCGGTTGGAAAGAAAGCCACCGCTGTTGCCTTCCCTTAGAGCCTGTCACCCCCGGACCTCGCTCCCAGCCCGAAGAGGTCACCCAGCGCCCGGCGTCAGGCTCGCGGGCTGCAAGGGTCCAAAGTTCACTGCAGGGAGAGGAGGGGGCGGTCAGAAGGGGGGGGCGAAGGTAATGAATGAAGAACCAGCCCCAGCCGCCGTGGCAACTCACCTCGGCGCTGACCAGACGCAGGTAGCAGCAGAGAGACAGGAAGAGCGCCCAGCAGCGATTCATGCCGACTCCGGGCCCGGCCCCGCGGGGCCCCGGACGCGTAGATCGAGCGCGCCGCCCCCGCGGCCAGGGTGGGGGGCTGGGGAGGGGGGTGGGCTCGGCTCGGGTCCGCGGCGATCAGGCGCTCAGGCCTCTGCAGCCGCGGCTCACCCGCATGGCCCCCGGGCGCCGCCGCCCCCGGCCCCGGCTCCGTCGCTGGGGGGCAGGGGAGGACCTGGGCGCAGGACCTGGGTCCGAGGCCGCTACCTGGGCGGATCCCGAGCCCGAGTGAGCATCCACGGCCGGGGGGCTGCGTCGCGAACCAGCCGAGGCGTCTAGCCGTGTGGGGGCGCCCAGGGGACTCCAACCTCCAAGAGGAAAAGGAACACGGCAGTCGATGGTTCGTCTTCACTCGCCGGCTACAGGCGTTTTCCTCTGCCCGCCGGCTTAGCTTTTTTGCAACATTTTCTGGAAAGGCCCCCAAAATCGGAAAGCGCGGAGCTGGGCACCTCAAGGCCCAAGTCTCCCCCAAAAAACTTTTTCCAAAGTTGGCTTTGCAACGGCAGCTCGAGCACCCGGGCAGGGAGAGGTGCAAACTCCCGCCCGGGCCGGGTAGGGGGGCGGGAGCGTGTGCGCCCTGGCGCGGGGCCCGGGCGGCGGGCACGGCTGCTCCGCGCGCGCGGCGTGCCCGCTGCGCGCTCGGCTGGGCCCGGCCGACAGGTGGACGCGGCGCGAGTCCGTCGGTCCGTCTGCCCGCCCGCTCGCCGCTCTGGGCGTCCTCTGCGGGCTGCGGGCTGCGAGCTGCGAGCTGCGAGCTGCGGCTGCTCCGGTTTTCTCTTTGCAGCGAGGCTGGAGGGTGGGCTTTTTTTTTTTTTTTTCCTTTTTGCGCGCGTATGTATGTGTGTGCGCGCAAAGTATCTCTATCTAGGGAATGAAAAATGGGCGCTGGCGGCCGGAGGGGAGCCCTAGGGAGGCAGCGGGGGAGGCTGCGGGTGCGCAGGGAGGCAGGCAGGCCGCTCCCGGCTGCAGGAGGAGAAGTTGCCACCCTTTCAGCTGTTCCGGCCTTTATAAAGGAGAAGGGAGAGTGCGAGAGGTGGGTGGAGACAGCCTTTCCTCTTCTGGCCCGGAGTCAGCGCCAGGAGGGGGGGGACGCGGGAGCTGGGGGAGGGCTTGGGGCCAGGGCGGGGCGCTTAGGGGGTCTCTGAGAGCCGAGCAACCCTTCAGTCCATGAATCTGGCCCTGGGGAAAAAAGAACTAGGGGTGACCCACCGTCCCGCCCCTCAGCACAGTGACCATGGACAGGTTAGGAGCCCACGTGGTCTAGGGGGATGTCTCCAGAGCCAAGGCCAGGAGTCCACGCTCCCCTCCAGGACCAGACATTTCCACCCTGGCACAGGCATGGCAGGGAGGGACTCAGGCTCTGCAGTCTGAGAGCCTGAATTCAGATCCTGCCCTGGCACTCGGGAGCTTGGGTCACCTTGGGCAAGTCACTTCCCTCTGTCCCCTCCATCTAGCCTCAACCTGGAGATGGGGCTATTGTAAGGACTCAGTGTTAGCAAGGGAAGACACCGCAAGGTGAACCCACAGAACCCGGCAGCCAGCGCCCTTCAGCTGCAAGCTGGGTCCGAGTCTCCTCCTCCTAGCTGGTTGCCTGGCACAACAGGCCCTGCCAGCGTTGGCTGAATTTGAATTTGTTGAACTGCAAAGTCACACAAACCCCCACAGCCCTGCAGCATCTTCGCAGGGCTACCAACATGATCTTCCCGTCAGTCACCCTGCTGTTTACTATCTCCCTCAGCCCCCGGGTTCGAGGCCCAGAGCCCACCCACCCACAACCAGCCTTCACACAGTTAACGCCTTCTGCCCCCAGTCAGGGAGCTGCTGTGTCCCTGCCTTCAGCAGTCACACTGTCTCAGTCACAGTCACACGTACTCACACTGGGCCCAGCACCCCCCTCGGGACACGCAGGCTCCTGCATCACCCAGCCTCCCGGCTTTGAGGCACCCTCATCTCCTCCGCTTGCACTGTCTCTGTTATCCGCCCTTCCCTTTGGGATGTCAGCCTGCTTCT 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AAAAAGTAGGTGCTGTGGTGCTGATGGGAGGTTCTCCCTCCCTCACAGGACGCCAGGAAGGAAATGGGGCCGCTACAGAGGTGGTGAGGTGCCAGGGCCCACGGAGGGCCCACCTGTTGCGCGGGGGCGAGCACCAGGCGCTGGGTGCACGGGGGCCCGTGCGTGCCTGTGTACGTGCGTGGGTGTGCGCGCACGTGTGCTCAGGCCGCGCGTGCAGGGGCCGTGCGTGCGTTTGTGTGCGGTGCGCGCGCGTGTGTCCCGCGTGTGCACGGGCGTGGCAGAGGCGGGCGCGCGACCTGGCCGCGGTAGTGCGTGCCCGTCGCTCTGCGCGCCCGCCCGCCGGAGCGCAGCATCGCCTCCGGCCAGGAGTGTGCATGCGTGGGGTGAGTGAGCGAGTCGGGGGCCCGGGCGGGGTGGGCTGCGGAGAGCAGCCACGGGGCGCCGCCGTTCCCAGGACGCCCTGGCACCGGGCCCAGCCCCCAGGTCCCACGGCGAGGCGAGGCGGCAGCTGGGGCCGGCCGGCCACCCCCTCCCCAACAGCTGGCCGCGGCCCGGGGGGCTGCGGGAGAGGCGGAGAGGGGGCGTCGGGAGGGGCCTGAAGGCGGCCCGGCCGAGCCCCGCGTCCTCCCTCCCGGGTGCGGGCCGCGGGGGGCGGCCGCGGAAGGGCGGGGCCCCCGGGCGGGCGGCCTGCGGCCCTCGAGGAGCCCCGAGAACAAAAGGAGACGGCGACGGCTCCTCCGTGGTCAAAACAACCTGCGCTGGCGGCAGCCCAAGGCCGGGCCGCGGCCTCCGAGCCCTCCGCCTTAACCCCTTCGCCGCCGCTGCCTCCTTCCTGCGCCTGGCTGGAGGCCGCAGGGGCCGACCCTCCCCGGGAGCCGGCGAGGTGCGGGCGAGGTGCGGACTCCCGGCCGCAGCCGGGCGGAGGTGGGACGGTACCCAGTCACGCCGCGCTCCCGGCTGCCCTCTCCTCCCCTCCACCGCGCGCGTCGTCCTGCCCCGCCCCCTTTCCCACCTGGATTCCGGGTAGACTTGCCAACTCACGGCTACGTGAGGCTGGGAGGGGTGGGGACGGCTCCGACCCCAGCGCTCCCTCAGATGTTTTTATACCCCATCTCCCGTGCAGCTAGGCTTTTGCAGGCGGCGCGCTCCGCACCCTGCATGCGGGGGAGAGAGGTGCTTCCTCCTGCAGGGCGCGGGCACAGGTACGGCAAGGCCTCAGGCACACAGCGCCCCGGGGGCTGGATTCCTTCAGAGCCCCTAGTCCTCCCCCTACCCGAGTGCCCGAAACCTACCTGCGTCTCTATCTTTCTCTCCCTCTCTCTCTCCGTCTCTCTCTCCGTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCCCTGTTACTCCCACCCCAAACCCCGCGCCCGAGACACAAGCTGCTTCCAGACCGTGCTCTGGGGCCGGGCATGCCCTGCGCGTGCCGGAGGGCGTCCACCCGGACCCCGACCGGGAGCCAGGGTGGGACCCGAGCCCCGTCAAAGGTCGGCGTGGATGGCACCGGTGCGCAAGCTTGCACCTCCTGGGCAAGCCGATGGCAGGACAGAGCCTAAGCCGAGGCTGGCGCCGAAGTGGGCTCGGGAGGACGCGCTGCCTTCTGCACCCTGGGCACCACCCCACCCCCTCTCCCCCGGCCGGGAAGGGGCTTGTTCTCGGGTTCCCAAAGGGTGGGGGACAGGGCCACACACACCCTCCCCCGACACGGAACGGCTTAGGGAGCCAGATTCGCCCGCCGGTTGGAAAGAAAGCCACCGCTGTTGCCTTCCCTTAGAGCCTGTCACCCCCGGACCTCGCTCCCAGCCCGAAGAGGTCACCCAGCGCCCGGCGTCAGGCTCGCGGGCTGCAAGGGTCCAAAGTTCACTGCAGGGAGAGGAGGGGGCGGTCAGAAGGGGGGGGCGAAGGTAATGAATGAAGAACCAGCCCCAGCCGCCGTGGCAACTCACCTCGGCGCTGACCAGACGCAGGTAGCAGCAGAGAGACAGGAAGAGCGCCCAGCAGCGATTCCTGCCGACTCCGGGCCCGGCCCCGCGGGGCCCCGGACGCGTAGATCGAGCGCGCCGCCCCCGCGGCCAGGGTGGGGGGCTGGGGAGGGGGGTGGGCTCGGCTCGGGTCCGCGGCGATCAGGCGCTCAGGCCTCTGCAGCCGCGGCTCACCCGCATGGCCCCCGGGCGCCGCCGCCCCCGGCCCCGGCTCCGTCGCTGGGGGGCAGGGGAGGACCTGGGCGCAGGACCTGGGTCCGAGGCCGCTACCTGGGCGGATCCCGAGCCCGAGTGAGCATCCACGGCCGGGGGGCTGCGTCGCGAACCAGCCGAGGCGTCTAGCCGTGTGGGGGCGCCCAGGGGACTCCAACCTCCAAGAGGAAAAGGAACACGGCAGTCGATGGTTCGTCTTCACTCGCCGGCTACAGGCGTTTTCCTCTGCCCGCCGGCTTAGCTTTTTTGCAACATTTTCTGGAAAGGCCCCCAAAATCGGAAAGCGCGGAGCTGGGCACCTCAAGGCCCAAGTCTCCCCCAAAAAACTTTTTCCAAAGTTGGCTTTGCAACGGCAGCTCGAGCACCCGGGCAGGGAGAGGTGCAAACTCCCGCCCGGGCCGGGTAGGGGGGCGGGAGCGTGTGCGCCCTGGCGCGGGGCCCGGGCGGCGGGCACGGCTGCTCCGCGCGCGCGGCGTGCCCGCTGCGCGCTCGGCTGGGCCCGGCCGACAGGTGGACGCGGCGCGAGTCCGTCGGTCCGTCTGCCCGCCCGCTCGCCGCTCTGGGCGTCCTCTGCGGGCTGCGGGCTGCGAGCTGCGAGCTGCGAGCTGCGGCTGCTCCGGTTTTCTCTTTGCAGCGAGGCTGGAGGGTGGGCTTTTTTTTTTTTTTTTCCTTTTTGCGCGCGTATGTATGTGTGTGCGCGCAAAGTATCTCTATCTAGGGAATGAAAAATGGGCGCTGGCGGCCGGAGGGGAGCCCTAGGGAGGCAGCGGGGGAGGCTGCGGGTGCGCAGGGAGGCAGGCAGGCCGCTCCCGGCTGCAGGAGGAGAAGTTGCCACCCTTTCAGCTGTTCCGGCCTTTATAAAGGAGAAGGGAGAGTGCGAGAGGTGGGTGGAGACAGCCTTTCCTCTTCTGGCCCGGAGTCAGCGCCAGGAGGGGGGGGACGCGGGAGCTGGGGGAGGGCTTGGGGCCAGGGCGGGGCGCTTAGGGGGTCTCTGAGAGCCGAGCAACCCTTCAGTCCATGAATCTGGCCCTGGGGAAAAAAGAACTAGGGGTGACCCACCGTCCCGCCCCTCAGCACAGTGACCATGGACAGGTTAGGAGCCCACGTGGTCTAGGGGGATGTCTCCAGAGCCAAGGCCAGGAGTCCACGCTCCCCTCCAGGACCAGACATTTCCACCCTGGCACAGGCATGGCAGGGAGGGACTCAGGCTCTGCAGTCTGAGAGCCTGAATTCAGATCCTGCCCTGGCACTCGGGAGCTTGGGTCACCTTGGGCAAGTCACTTCCCTCTGTCCCCTCCATCTAGCCTCAACCTGGAGATGGGGCTATTGTAAGGACTCAGTGTTAGCAAGGGAAGACACCGCAAGGTGAACCCACAGAACCCGGCAGCCAGCGCCCTTCAGCTGCAAGCTGGGTCCGAGTCTCCTCCTCCTAGCTGGTTGCCTGGCACAACAGGCCCTGCCAGCGTTGGCTGAATTTGAATTTGTTGAACTGCAAAGTCACACAAACCCCCACAGCCCTGCAGCATCTTCGCAGGGCTACCAACATGATCTTCCCGTCAGTCACCCTGCTGTTTACTATCTCCCTCAGCCCCCGGGTTCGAGGCCCAGAGCCCACCCACCCACAACCAGCCTTCACACAGTTAACGCCTTCTGCCCCCAGTCAGGGAGCTGCTGTGTCCCTGCCTTCAGCAGTCACACTGTCTCAGTCACAGTCACACGTACTCACACTGGGCCCAGCACCCCCCTCGGGACACGCAGGCTCCTGCATCACCCAGCCTCCCGGCTTTGAGGCACCCTCATCTCCTCCGCTTGCACTGTCTCTGTTATCCGCCCTTCCCTTTGGGATGTCAGCCTGCTTCT 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Task1_train_28832 | Chromosome 22 houses a mutation in gene CACNA1I (calcium voltage-gated channel subunit alpha1 I). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Neurodevelopmental disorder with speech impairment and with or without seizures | CCTGCTTTCCTGTCTTGCTCTGCATCTTAGCCGTGTGACCTCAGGCTGGCCTCCAAGCCTCTTTTTCCTCATCCGTAAAATGCGTATCAGAACACTTCCCTGGTAGTGTGCTACAAGCCTCATTTCCAAATTTGTGGAAGGTCAGCGCTGTGGGGTCCCCCAACCCTCACCATCTCAGCAGACCTCTCACGACCCCAAGGTAGCAGAGTTGAGAGGGGCCCTCGGGGCCTTGTGCATGGGGCAGTGGGGAGACGGAGGTATGGTGAGGACACCGACCTGCCAGGGTCACACAGCCAGGGTGGGTGTCCAGAGGGGATCCACAGCTGCCCTCTGGCCTGACCGGGTCTCCATTCCCCACCCCAATGCCCCACAGCCGGAGGAGCTGACCAACATCCTGGAGATCTGCAATGTGGTCTTCACCAGCATGTTTGCCCTGGAGATGATCCTGAAGCTGGCTGCATTTGGGCTCTTCGACTACCTGCGTAACCCCTACAACATCTTCGACAGCATCATTGTCATCATCAGGTACCCCTCCCCCAACCCACCCGGCAGCAGAGTGCCTCGGGGGGACATTTACTGCAAAGACCCCAGCCAGCATATAAAGGACATAAGATGGCTGTGGAAACCCGTTGCACTGAAACAATTATCGAAATAGTCAAACATTTGTGATTTAGCAACATATTTCTGTCAAGTTAAACAGCATGATCTAGCAGCGCGTCTGTGACTGCTATCATTCCGAGGAAGGGATGGGCATAAATCATATTGGGAAACAACTGCATCGGCTGTCACGTGACGTGAAGACACCAGTTACTTTGATTGCCACAAAGCCATAGGTACTGCTAATTCTCTGTGGCTTCCTGTTTACATTCATAACCAAAAGACACGTTAAATCTCAAAAAGAGGACAGTGATATCCATGGACCTCCGGATTCTAGCCAGAGACTTCTTGTGGGGGTGGTGGTGGTCCATGGACTCCAAGTGAAGAGCCCCTGATTAGCTTGTGGCGTGGAGCAGCATCCAACATATTTGTCAGATGGATGGATGAATGGAAGCTCTGTCTCTCTGTTTTCCCTTCTCCCTCTGTCTTCCTCTCCCCCTGGCCTCCTACTGCTGCCTCCTACCTGTACCCTGGGCCTGCCCTGCGGGACCGCAGCATCTGGGAGATTGTGGGGCAGGCGGACGGTGGGCTGTCGGTGCTGCGGACCTTCCGGCTGCTGCGCGTGCTGAAACTGGTGCGCTTCATGCCTGCCCTGCGGCGCCAGCTCGTGGTGCTCATGAAGACCATGGACAACGTGGCCACCTTCTGCATGCTGCTCATGCTCTTCATCTTCATCTTCAGGTGAGCCTGCCCTGCTGGGGGCCATACCTCAGCACCTGCTGGGGCTGTGGGCGGGAGCCTGGGGGATGTGGTCCACTGTGCTTCTCTGGACAAAGCCACCTGGACCTGGGTGTGAAGCCTGACACTGTTCCTCAGTCCCCTGTGGCTTTCAGCAAGCATGAACCCCTAAGCCTCAGTGTTCATCTCTGTAAAATGGGACCAACGCTGCCCCGCCTCCCCCTGCCCTGCATTTTACTGAGTTGACTGAGAATGAAACAAGGTGAGTAGGCAGTTTGGTGCATGTGAGTCCGATGAGCCTCTTCCATCCTTTCCCCAGCATCCTTGGGATGCATATTTTTGGCTGCAAGTTCAGCCTCCGCACGGACACTGGAGACACGGTGCCCGACAGGAAGAACTTCGACTCCCTGCTGTGGGCCATCGTCACTGTGTTCCAGGTGAGTGGCCGCTGCGTGTTCATGTTTGCTGGGGAAGCGATGGGACAGTAGGCCTGGGAGGGGCGGGGCTGACAACTCCCATGCCTCCTTGTAGAGCCTAGCCCTGGACTAGGGGTACCCCAGGGCTAACTGTGTCTCCCCAACAGATCCTCACCCAGGAGGACTGGAACGTCGTTCTCTACAATGGCATGGCCTCCACTTCTCCCTGGGCCTCCCTCTACTTTGTCGCCCTCATGACCTTCGGCAACTATGTGCTCTTCAACCTGCTGGTGGCCATCCTGGTGGAGGGCTTCCAGGCGGAGGTGACTGTGGTCTTGGCAGAGGAAGCACCCCCACAGGGTCTGCGAAAGACTGGGCGAGGGAGAGGTGGCCTGGATGGGGGAGGGCTGCAATTCAAACTTCTAGCAGGCAACCTATCCCTAAAGGAGGGGGTTGCTGATGAGGTGGTGAGCTCTTCATCATAGGAAGCATGCAAATGGAGACTGCGTCTGCCATCCCTGCTCCCCCCCAGGGATGTAGGACTAGGCTTCTCCATCTCTGAGATTCGAAATCCCCCAAGATTAGGGACTCTGGGCCCTGCTCCCTCCGTTCTCTGAGGCTCTGGGGATACTTGCAGTCAGGCAGATGTAGGGTTGTGACCTAGGTTCTTGTTAGCATCTCATTTCCCTTTTCCAAACCTCAGTTTTCCCATTTGCAAAATGGCGGTGGAAACACCCATAGAAAAATTCTAGAGGGAGCTGGGAAGGGAGGAGCTGGACTGACCTGCATTCTAACGTGACGGATGCTCTCCCAGGGTGACGCCAATCGCTCCTACTCGGACGAGGACCAGAGCTCATCCAACATAGAAGAGTTTGATAAGCTCCAGGAAGGCCTGGACAGCAGCGGAGGTAAACAGGCCCTCGCTTGTCACCTAGAGAGCCCAGAGCCTTCTCCACAGATCCAGGTGGGCAGAGGGTACAGCGTCTGACTCCACCTCAAGCCCAGGCTCAGGGACTGCTACTTATCTATGGTTTGTTGTTTACGTTCATAATTGGAAAAAATGTGAAATCTCAAAAAGAGGTCAGTGACATCCATGGACCCCTGGGATTCTAGGCACAGGGGTAGCCGCAGCCCACCACATCCCTCCACATACCAGGGCCCCTTGGTTAGAGCCTTGGGGCCTTAGGTCAAGGTGTAGGTTCTGGTCCTGCCTGGCACTACTGGGCATCTTGGAACAAGCATCCTCCAACCCTAGCCCAGTGTCTTTCTCGGTAACTGGGGCGGACAGTCCCTGCCTTGTTTCCCATAGTGGGCATGGGAGTGAGGTGTCAGGCTGGTTCTGAGCACAGAAGGCAAGGGGTCCACACATACCTAAATAAAGCTAAGAGCCCTGCAGGTGGGGCGAAGGGGAGGCACTGTGATGGGGTGCAACCAGGAAGACTTCCTGGTAGAGGAAGCCTCCTTAGAAAAGCTCTCCATTTCTGCTCCTTCCTTGTTTGTCTGTCTCGTGGCTCCCTTGCTGTTGTTCTGTCCTGTCTGCCATCTGTCCCTCCCTCTGTCTCCATCTCACTCCTCCAGATCCCAAGCTCTGCCCAATCCCCATGACCCCCAATGGGCACCTGGACCCCAGTCTCCCACTGGGTGGGCACCTAGGTCCTGCTGGGGCTGCGGGACCTGCCCCCCGACTCTCACTGCAGCCGGACCCCATGCTGGTGGCCCTGGGCTCCCGAAAGAGCAGTGTCATGTCTCTAGGGAGGATGAGCTATGACCAGCGCTCCCTGGTGAGTCCTTGTGGGGAGCTCTGGACGGGCGCTTCCTGCTGGGGTGTGTGTGGAGGGGCCCTGAAGAGAGGTACCTGCCAGTCTAGCCTCAGACTCTGGTGCCCAGCCAAAGTCAGGCAGGGGCCATGTCTGTTGCATTCCTGGGTGCCCAGTGCCAGAGTGGGACCTGGCAATAAGGAACGAATGAAGGCCTAGTGCCAGTGGGGTCTGGTGCAGAGAATTGGATTTTCATCTCAGCAACAATGTGTAGGGTAAAAAGAGCTGGGCTTTGGAGTCAGGCAGACTGCAGCTTGAATCCACCTTCTGCCACTTCCAAGCTGTGTGACCAGGAGCAAATTACTGCCCTTCTCTGAGCCTCAGTTTCCTTACCTGCAAAATGGGAAGATGGCCCTAACTTGCTGTACCTTCCTCAAGGGAAGTGAGGTGGCAGGAGGGGATGTAACCTCCGGGTGGATGTGCCCCCATGTCCCTGTGGATGTGGATGGAGTGAGGTGGGACAGGGAGAGGAGCTCTAGGGTCAAGCCCATTCCATCACCCGCTGGCCAGGTGGGTGGTCTTAGAGCC 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CCTGCTTTCCTGTCTTGCTCTGCATCTTAGCCGTGTGACCTCAGGCTGGCCTCCAAGCCTCTTTTTCCTCATCCGTAAAATGCGTATCAGAACACTTCCCTGGTAGTGTGCTACAAGCCTCATTTCCAAATTTGTGGAAGGTCAGCGCTGTGGGGTCCCCCAACCCTCACCATCTCAGCAGACCTCTCACGACCCCAAGGTAGCAGAGTTGAGAGGGGCCCTCGGGGCCTTGTGCATGGGGCAGTGGGGAGACGGAGGTATGGTGAGGACACCGACCTGCCAGGGTCACACAGCCAGGGTGGGTGTCCAGAGGGGATCCACAGCTGCCCTCTGGCCTGACCGGGTCTCCATTCCCCACCCCAATGCCCCACAGCCGGAGGAGCTGACCAACATCCTGGAGATCTGCAATGTGGTCTTCACCAGCATGTTTGCCCTGGAGATGATCCTGAAGCTGGCTGCATTTGGGCTCTTCGACTACCTGCGTAACCCCTACAACATCTTCGACAGCATCATTGTCATCATCAGGTACCCCTCCCCCAACCCACCCGGCAGCAGAGTGCCTCGGGGGGACATTTACTGCAAAGACCCCAGCCAGCATATAAAGGACATAAGATGGCTGTGGAAACCCGTTGCACTGAAACAATTATCGAAATAGTCAAACATTTGTGATTTAGCAACATATTTCTGTCAAGTTAAACAGCATGATCTAGCAGCGCGTCTGTGACTGCTATCATTCCGAGGAAGGGATGGGCATAAATCATATTGGGAAACAACTGCATCGGCTGTCACGTGACGTGAAGACACCAGTTACTTTGATTGCCACAAAGCCATAGGTACTGCTAATTCTCTGTGGCTTCCTGTTTACATTCATAACCAAAAGACACGTTAAATCTCAAAAAGAGGACAGTGATATCCATGGACCTCCGGATTCTAGCCAGAGACTTCTTGTGGGGGTGGTGGTGGTCCATGGACTCCAAGTGAAGAGCCCCTGATTAGCTTGTGGCGTGGAGCAGCATCCAACATATTTGTCAGATGGATGGATGAATGGAAGCTCTGTCTCTCTGTTTTCCCTTCTCCCTCTGTCTTCCTCTCCCCCTGGCCTCCTACTGCTGCCTCCTACCTGTACCCTGGGCCTGCCCTGCGGGACCGCAGCATCTGGGAGATTGTGGGGCAGGCGGACGGTGGGCTGTCGGTGCTGCGGACCTTCCGGCTGCTGCGCGTGCTGAAACTGGTGCGCTTCATGCCTGCCCTGCGGCGCCAGCTCGTGGTGCTCATGAAGACCATGGACAACGTGGCCACCTTCTGCATGCTGCTCATGCTCTTCATCTTCATCTTCAGGTGAGCCTGCCCTGCTGGGGGCCATACCTCAGCACCTGCTGGGGCTGTGGGCGGGAGCCTGGGGGATGTGGTCCACTGTGCTTCTCTGGACAAAGCCACCTGGACCTGGGTGTGAAGCCTGACACTGTTCCTCAGTCCCCTGTGGCTTTCAGCAAGCATGAACCCCTAAGCCTCAGTGTTCATCTCTGTAAAATGGGACCAACGCTGCCCCGCCTCCCCCTGCCCTGCATTTTACTGAGTTGACTGAGAATGAAACAAGGTGAGTAGGCAGTTTGGTGCATGTGAGTCCGATGAGCCTCTTCCATCCTTTCCCCAGCATCCTTGGGATGCATATTTTTGGCTGCAAGTTCAGCCTCCGCACGGACACTGGAGACACGGTGCCCGACAGGAAGAACTTCGACTCCCTGCTGTGGGCCATCGTCACTGTGTTCCAGGTGAGTGGCCGCTGCGTGTTCATGTTTGCTGGGGAAGCGATGGGACAGTAGGCCTGGGAGGGGCGGGGCTGACAACTCCCATGCCTCCTTGTAGAGCCTAGCCCTGGACTAGGGGTACCCCAGGGCTAACTGTGTCTCCCCAACAGATCCTCACCCAGGAGGACTGGAACGTCGTTCTCTACAATGGCATGGCCTCCACTTCTCCCTGGGCCTCCCTCTACTTTGTCGCCCTCATGACCTTCGGCAACTATGTGCTCTTCAACCTGCTGGTGGCCAACCTGGTGGAGGGCTTCCAGGCGGAGGTGACTGTGGTCTTGGCAGAGGAAGCACCCCCACAGGGTCTGCGAAAGACTGGGCGAGGGAGAGGTGGCCTGGATGGGGGAGGGCTGCAATTCAAACTTCTAGCAGGCAACCTATCCCTAAAGGAGGGGGTTGCTGATGAGGTGGTGAGCTCTTCATCATAGGAAGCATGCAAATGGAGACTGCGTCTGCCATCCCTGCTCCCCCCCAGGGATGTAGGACTAGGCTTCTCCATCTCTGAGATTCGAAATCCCCCAAGATTAGGGACTCTGGGCCCTGCTCCCTCCGTTCTCTGAGGCTCTGGGGATACTTGCAGTCAGGCAGATGTAGGGTTGTGACCTAGGTTCTTGTTAGCATCTCATTTCCCTTTTCCAAACCTCAGTTTTCCCATTTGCAAAATGGCGGTGGAAACACCCATAGAAAAATTCTAGAGGGAGCTGGGAAGGGAGGAGCTGGACTGACCTGCATTCTAACGTGACGGATGCTCTCCCAGGGTGACGCCAATCGCTCCTACTCGGACGAGGACCAGAGCTCATCCAACATAGAAGAGTTTGATAAGCTCCAGGAAGGCCTGGACAGCAGCGGAGGTAAACAGGCCCTCGCTTGTCACCTAGAGAGCCCAGAGCCTTCTCCACAGATCCAGGTGGGCAGAGGGTACAGCGTCTGACTCCACCTCAAGCCCAGGCTCAGGGACTGCTACTTATCTATGGTTTGTTGTTTACGTTCATAATTGGAAAAAATGTGAAATCTCAAAAAGAGGTCAGTGACATCCATGGACCCCTGGGATTCTAGGCACAGGGGTAGCCGCAGCCCACCACATCCCTCCACATACCAGGGCCCCTTGGTTAGAGCCTTGGGGCCTTAGGTCAAGGTGTAGGTTCTGGTCCTGCCTGGCACTACTGGGCATCTTGGAACAAGCATCCTCCAACCCTAGCCCAGTGTCTTTCTCGGTAACTGGGGCGGACAGTCCCTGCCTTGTTTCCCATAGTGGGCATGGGAGTGAGGTGTCAGGCTGGTTCTGAGCACAGAAGGCAAGGGGTCCACACATACCTAAATAAAGCTAAGAGCCCTGCAGGTGGGGCGAAGGGGAGGCACTGTGATGGGGTGCAACCAGGAAGACTTCCTGGTAGAGGAAGCCTCCTTAGAAAAGCTCTCCATTTCTGCTCCTTCCTTGTTTGTCTGTCTCGTGGCTCCCTTGCTGTTGTTCTGTCCTGTCTGCCATCTGTCCCTCCCTCTGTCTCCATCTCACTCCTCCAGATCCCAAGCTCTGCCCAATCCCCATGACCCCCAATGGGCACCTGGACCCCAGTCTCCCACTGGGTGGGCACCTAGGTCCTGCTGGGGCTGCGGGACCTGCCCCCCGACTCTCACTGCAGCCGGACCCCATGCTGGTGGCCCTGGGCTCCCGAAAGAGCAGTGTCATGTCTCTAGGGAGGATGAGCTATGACCAGCGCTCCCTGGTGAGTCCTTGTGGGGAGCTCTGGACGGGCGCTTCCTGCTGGGGTGTGTGTGGAGGGGCCCTGAAGAGAGGTACCTGCCAGTCTAGCCTCAGACTCTGGTGCCCAGCCAAAGTCAGGCAGGGGCCATGTCTGTTGCATTCCTGGGTGCCCAGTGCCAGAGTGGGACCTGGCAATAAGGAACGAATGAAGGCCTAGTGCCAGTGGGGTCTGGTGCAGAGAATTGGATTTTCATCTCAGCAACAATGTGTAGGGTAAAAAGAGCTGGGCTTTGGAGTCAGGCAGACTGCAGCTTGAATCCACCTTCTGCCACTTCCAAGCTGTGTGACCAGGAGCAAATTACTGCCCTTCTCTGAGCCTCAGTTTCCTTACCTGCAAAATGGGAAGATGGCCCTAACTTGCTGTACCTTCCTCAAGGGAAGTGAGGTGGCAGGAGGGGATGTAACCTCCGGGTGGATGTGCCCCCATGTCCCTGTGGATGTGGATGGAGTGAGGTGGGACAGGGAGAGGAGCTCTAGGGTCAAGCCCATTCCATCACCCGCTGGCCAGGTGGGTGGTCTTAGAGCC 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Task1_train_28833 | Gene CACNA1I (calcium voltage-gated channel subunit alpha1 I) on Chromosome 22 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Neurodevelopmental disorder with speech impairment and with or without seizures | CTGCTTTCCTGTCTTGCTCTGCATCTTAGCCGTGTGACCTCAGGCTGGCCTCCAAGCCTCTTTTTCCTCATCCGTAAAATGCGTATCAGAACACTTCCCTGGTAGTGTGCTACAAGCCTCATTTCCAAATTTGTGGAAGGTCAGCGCTGTGGGGTCCCCCAACCCTCACCATCTCAGCAGACCTCTCACGACCCCAAGGTAGCAGAGTTGAGAGGGGCCCTCGGGGCCTTGTGCATGGGGCAGTGGGGAGACGGAGGTATGGTGAGGACACCGACCTGCCAGGGTCACACAGCCAGGGTGGGTGTCCAGAGGGGATCCACAGCTGCCCTCTGGCCTGACCGGGTCTCCATTCCCCACCCCAATGCCCCACAGCCGGAGGAGCTGACCAACATCCTGGAGATCTGCAATGTGGTCTTCACCAGCATGTTTGCCCTGGAGATGATCCTGAAGCTGGCTGCATTTGGGCTCTTCGACTACCTGCGTAACCCCTACAACATCTTCGACAGCATCATTGTCATCATCAGGTACCCCTCCCCCAACCCACCCGGCAGCAGAGTGCCTCGGGGGGACATTTACTGCAAAGACCCCAGCCAGCATATAAAGGACATAAGATGGCTGTGGAAACCCGTTGCACTGAAACAATTATCGAAATAGTCAAACATTTGTGATTTAGCAACATATTTCTGTCAAGTTAAACAGCATGATCTAGCAGCGCGTCTGTGACTGCTATCATTCCGAGGAAGGGATGGGCATAAATCATATTGGGAAACAACTGCATCGGCTGTCACGTGACGTGAAGACACCAGTTACTTTGATTGCCACAAAGCCATAGGTACTGCTAATTCTCTGTGGCTTCCTGTTTACATTCATAACCAAAAGACACGTTAAATCTCAAAAAGAGGACAGTGATATCCATGGACCTCCGGATTCTAGCCAGAGACTTCTTGTGGGGGTGGTGGTGGTCCATGGACTCCAAGTGAAGAGCCCCTGATTAGCTTGTGGCGTGGAGCAGCATCCAACATATTTGTCAGATGGATGGATGAATGGAAGCTCTGTCTCTCTGTTTTCCCTTCTCCCTCTGTCTTCCTCTCCCCCTGGCCTCCTACTGCTGCCTCCTACCTGTACCCTGGGCCTGCCCTGCGGGACCGCAGCATCTGGGAGATTGTGGGGCAGGCGGACGGTGGGCTGTCGGTGCTGCGGACCTTCCGGCTGCTGCGCGTGCTGAAACTGGTGCGCTTCATGCCTGCCCTGCGGCGCCAGCTCGTGGTGCTCATGAAGACCATGGACAACGTGGCCACCTTCTGCATGCTGCTCATGCTCTTCATCTTCATCTTCAGGTGAGCCTGCCCTGCTGGGGGCCATACCTCAGCACCTGCTGGGGCTGTGGGCGGGAGCCTGGGGGATGTGGTCCACTGTGCTTCTCTGGACAAAGCCACCTGGACCTGGGTGTGAAGCCTGACACTGTTCCTCAGTCCCCTGTGGCTTTCAGCAAGCATGAACCCCTAAGCCTCAGTGTTCATCTCTGTAAAATGGGACCAACGCTGCCCCGCCTCCCCCTGCCCTGCATTTTACTGAGTTGACTGAGAATGAAACAAGGTGAGTAGGCAGTTTGGTGCATGTGAGTCCGATGAGCCTCTTCCATCCTTTCCCCAGCATCCTTGGGATGCATATTTTTGGCTGCAAGTTCAGCCTCCGCACGGACACTGGAGACACGGTGCCCGACAGGAAGAACTTCGACTCCCTGCTGTGGGCCATCGTCACTGTGTTCCAGGTGAGTGGCCGCTGCGTGTTCATGTTTGCTGGGGAAGCGATGGGACAGTAGGCCTGGGAGGGGCGGGGCTGACAACTCCCATGCCTCCTTGTAGAGCCTAGCCCTGGACTAGGGGTACCCCAGGGCTAACTGTGTCTCCCCAACAGATCCTCACCCAGGAGGACTGGAACGTCGTTCTCTACAATGGCATGGCCTCCACTTCTCCCTGGGCCTCCCTCTACTTTGTCGCCCTCATGACCTTCGGCAACTATGTGCTCTTCAACCTGCTGGTGGCCATCCTGGTGGAGGGCTTCCAGGCGGAGGTGACTGTGGTCTTGGCAGAGGAAGCACCCCCACAGGGTCTGCGAAAGACTGGGCGAGGGAGAGGTGGCCTGGATGGGGGAGGGCTGCAATTCAAACTTCTAGCAGGCAACCTATCCCTAAAGGAGGGGGTTGCTGATGAGGTGGTGAGCTCTTCATCATAGGAAGCATGCAAATGGAGACTGCGTCTGCCATCCCTGCTCCCCCCCAGGGATGTAGGACTAGGCTTCTCCATCTCTGAGATTCGAAATCCCCCAAGATTAGGGACTCTGGGCCCTGCTCCCTCCGTTCTCTGAGGCTCTGGGGATACTTGCAGTCAGGCAGATGTAGGGTTGTGACCTAGGTTCTTGTTAGCATCTCATTTCCCTTTTCCAAACCTCAGTTTTCCCATTTGCAAAATGGCGGTGGAAACACCCATAGAAAAATTCTAGAGGGAGCTGGGAAGGGAGGAGCTGGACTGACCTGCATTCTAACGTGACGGATGCTCTCCCAGGGTGACGCCAATCGCTCCTACTCGGACGAGGACCAGAGCTCATCCAACATAGAAGAGTTTGATAAGCTCCAGGAAGGCCTGGACAGCAGCGGAGGTAAACAGGCCCTCGCTTGTCACCTAGAGAGCCCAGAGCCTTCTCCACAGATCCAGGTGGGCAGAGGGTACAGCGTCTGACTCCACCTCAAGCCCAGGCTCAGGGACTGCTACTTATCTATGGTTTGTTGTTTACGTTCATAATTGGAAAAAATGTGAAATCTCAAAAAGAGGTCAGTGACATCCATGGACCCCTGGGATTCTAGGCACAGGGGTAGCCGCAGCCCACCACATCCCTCCACATACCAGGGCCCCTTGGTTAGAGCCTTGGGGCCTTAGGTCAAGGTGTAGGTTCTGGTCCTGCCTGGCACTACTGGGCATCTTGGAACAAGCATCCTCCAACCCTAGCCCAGTGTCTTTCTCGGTAACTGGGGCGGACAGTCCCTGCCTTGTTTCCCATAGTGGGCATGGGAGTGAGGTGTCAGGCTGGTTCTGAGCACAGAAGGCAAGGGGTCCACACATACCTAAATAAAGCTAAGAGCCCTGCAGGTGGGGCGAAGGGGAGGCACTGTGATGGGGTGCAACCAGGAAGACTTCCTGGTAGAGGAAGCCTCCTTAGAAAAGCTCTCCATTTCTGCTCCTTCCTTGTTTGTCTGTCTCGTGGCTCCCTTGCTGTTGTTCTGTCCTGTCTGCCATCTGTCCCTCCCTCTGTCTCCATCTCACTCCTCCAGATCCCAAGCTCTGCCCAATCCCCATGACCCCCAATGGGCACCTGGACCCCAGTCTCCCACTGGGTGGGCACCTAGGTCCTGCTGGGGCTGCGGGACCTGCCCCCCGACTCTCACTGCAGCCGGACCCCATGCTGGTGGCCCTGGGCTCCCGAAAGAGCAGTGTCATGTCTCTAGGGAGGATGAGCTATGACCAGCGCTCCCTGGTGAGTCCTTGTGGGGAGCTCTGGACGGGCGCTTCCTGCTGGGGTGTGTGTGGAGGGGCCCTGAAGAGAGGTACCTGCCAGTCTAGCCTCAGACTCTGGTGCCCAGCCAAAGTCAGGCAGGGGCCATGTCTGTTGCATTCCTGGGTGCCCAGTGCCAGAGTGGGACCTGGCAATAAGGAACGAATGAAGGCCTAGTGCCAGTGGGGTCTGGTGCAGAGAATTGGATTTTCATCTCAGCAACAATGTGTAGGGTAAAAAGAGCTGGGCTTTGGAGTCAGGCAGACTGCAGCTTGAATCCACCTTCTGCCACTTCCAAGCTGTGTGACCAGGAGCAAATTACTGCCCTTCTCTGAGCCTCAGTTTCCTTACCTGCAAAATGGGAAGATGGCCCTAACTTGCTGTACCTTCCTCAAGGGAAGTGAGGTGGCAGGAGGGGATGTAACCTCCGGGTGGATGTGCCCCCATGTCCCTGTGGATGTGGATGGAGTGAGGTGGGACAGGGAGAGGAGCTCTAGGGTCAAGCCCATTCCATCACCCGCTGGCCAGGTGGGTGGTCTTAGAGCCA 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CTGCTTTCCTGTCTTGCTCTGCATCTTAGCCGTGTGACCTCAGGCTGGCCTCCAAGCCTCTTTTTCCTCATCCGTAAAATGCGTATCAGAACACTTCCCTGGTAGTGTGCTACAAGCCTCATTTCCAAATTTGTGGAAGGTCAGCGCTGTGGGGTCCCCCAACCCTCACCATCTCAGCAGACCTCTCACGACCCCAAGGTAGCAGAGTTGAGAGGGGCCCTCGGGGCCTTGTGCATGGGGCAGTGGGGAGACGGAGGTATGGTGAGGACACCGACCTGCCAGGGTCACACAGCCAGGGTGGGTGTCCAGAGGGGATCCACAGCTGCCCTCTGGCCTGACCGGGTCTCCATTCCCCACCCCAATGCCCCACAGCCGGAGGAGCTGACCAACATCCTGGAGATCTGCAATGTGGTCTTCACCAGCATGTTTGCCCTGGAGATGATCCTGAAGCTGGCTGCATTTGGGCTCTTCGACTACCTGCGTAACCCCTACAACATCTTCGACAGCATCATTGTCATCATCAGGTACCCCTCCCCCAACCCACCCGGCAGCAGAGTGCCTCGGGGGGACATTTACTGCAAAGACCCCAGCCAGCATATAAAGGACATAAGATGGCTGTGGAAACCCGTTGCACTGAAACAATTATCGAAATAGTCAAACATTTGTGATTTAGCAACATATTTCTGTCAAGTTAAACAGCATGATCTAGCAGCGCGTCTGTGACTGCTATCATTCCGAGGAAGGGATGGGCATAAATCATATTGGGAAACAACTGCATCGGCTGTCACGTGACGTGAAGACACCAGTTACTTTGATTGCCACAAAGCCATAGGTACTGCTAATTCTCTGTGGCTTCCTGTTTACATTCATAACCAAAAGACACGTTAAATCTCAAAAAGAGGACAGTGATATCCATGGACCTCCGGATTCTAGCCAGAGACTTCTTGTGGGGGTGGTGGTGGTCCATGGACTCCAAGTGAAGAGCCCCTGATTAGCTTGTGGCGTGGAGCAGCATCCAACATATTTGTCAGATGGATGGATGAATGGAAGCTCTGTCTCTCTGTTTTCCCTTCTCCCTCTGTCTTCCTCTCCCCCTGGCCTCCTACTGCTGCCTCCTACCTGTACCCTGGGCCTGCCCTGCGGGACCGCAGCATCTGGGAGATTGTGGGGCAGGCGGACGGTGGGCTGTCGGTGCTGCGGACCTTCCGGCTGCTGCGCGTGCTGAAACTGGTGCGCTTCATGCCTGCCCTGCGGCGCCAGCTCGTGGTGCTCATGAAGACCATGGACAACGTGGCCACCTTCTGCATGCTGCTCATGCTCTTCATCTTCATCTTCAGGTGAGCCTGCCCTGCTGGGGGCCATACCTCAGCACCTGCTGGGGCTGTGGGCGGGAGCCTGGGGGATGTGGTCCACTGTGCTTCTCTGGACAAAGCCACCTGGACCTGGGTGTGAAGCCTGACACTGTTCCTCAGTCCCCTGTGGCTTTCAGCAAGCATGAACCCCTAAGCCTCAGTGTTCATCTCTGTAAAATGGGACCAACGCTGCCCCGCCTCCCCCTGCCCTGCATTTTACTGAGTTGACTGAGAATGAAACAAGGTGAGTAGGCAGTTTGGTGCATGTGAGTCCGATGAGCCTCTTCCATCCTTTCCCCAGCATCCTTGGGATGCATATTTTTGGCTGCAAGTTCAGCCTCCGCACGGACACTGGAGACACGGTGCCCGACAGGAAGAACTTCGACTCCCTGCTGTGGGCCATCGTCACTGTGTTCCAGGTGAGTGGCCGCTGCGTGTTCATGTTTGCTGGGGAAGCGATGGGACAGTAGGCCTGGGAGGGGCGGGGCTGACAACTCCCATGCCTCCTTGTAGAGCCTAGCCCTGGACTAGGGGTACCCCAGGGCTAACTGTGTCTCCCCAACAGATCCTCACCCAGGAGGACTGGAACGTCGTTCTCTACAATGGCATGGCCTCCACTTCTCCCTGGGCCTCCCTCTACTTTGTCGCCCTCATGACCTTCGGCAACTATGTGCTCTTCAACCTGCTGGTGGCCATGCTGGTGGAGGGCTTCCAGGCGGAGGTGACTGTGGTCTTGGCAGAGGAAGCACCCCCACAGGGTCTGCGAAAGACTGGGCGAGGGAGAGGTGGCCTGGATGGGGGAGGGCTGCAATTCAAACTTCTAGCAGGCAACCTATCCCTAAAGGAGGGGGTTGCTGATGAGGTGGTGAGCTCTTCATCATAGGAAGCATGCAAATGGAGACTGCGTCTGCCATCCCTGCTCCCCCCCAGGGATGTAGGACTAGGCTTCTCCATCTCTGAGATTCGAAATCCCCCAAGATTAGGGACTCTGGGCCCTGCTCCCTCCGTTCTCTGAGGCTCTGGGGATACTTGCAGTCAGGCAGATGTAGGGTTGTGACCTAGGTTCTTGTTAGCATCTCATTTCCCTTTTCCAAACCTCAGTTTTCCCATTTGCAAAATGGCGGTGGAAACACCCATAGAAAAATTCTAGAGGGAGCTGGGAAGGGAGGAGCTGGACTGACCTGCATTCTAACGTGACGGATGCTCTCCCAGGGTGACGCCAATCGCTCCTACTCGGACGAGGACCAGAGCTCATCCAACATAGAAGAGTTTGATAAGCTCCAGGAAGGCCTGGACAGCAGCGGAGGTAAACAGGCCCTCGCTTGTCACCTAGAGAGCCCAGAGCCTTCTCCACAGATCCAGGTGGGCAGAGGGTACAGCGTCTGACTCCACCTCAAGCCCAGGCTCAGGGACTGCTACTTATCTATGGTTTGTTGTTTACGTTCATAATTGGAAAAAATGTGAAATCTCAAAAAGAGGTCAGTGACATCCATGGACCCCTGGGATTCTAGGCACAGGGGTAGCCGCAGCCCACCACATCCCTCCACATACCAGGGCCCCTTGGTTAGAGCCTTGGGGCCTTAGGTCAAGGTGTAGGTTCTGGTCCTGCCTGGCACTACTGGGCATCTTGGAACAAGCATCCTCCAACCCTAGCCCAGTGTCTTTCTCGGTAACTGGGGCGGACAGTCCCTGCCTTGTTTCCCATAGTGGGCATGGGAGTGAGGTGTCAGGCTGGTTCTGAGCACAGAAGGCAAGGGGTCCACACATACCTAAATAAAGCTAAGAGCCCTGCAGGTGGGGCGAAGGGGAGGCACTGTGATGGGGTGCAACCAGGAAGACTTCCTGGTAGAGGAAGCCTCCTTAGAAAAGCTCTCCATTTCTGCTCCTTCCTTGTTTGTCTGTCTCGTGGCTCCCTTGCTGTTGTTCTGTCCTGTCTGCCATCTGTCCCTCCCTCTGTCTCCATCTCACTCCTCCAGATCCCAAGCTCTGCCCAATCCCCATGACCCCCAATGGGCACCTGGACCCCAGTCTCCCACTGGGTGGGCACCTAGGTCCTGCTGGGGCTGCGGGACCTGCCCCCCGACTCTCACTGCAGCCGGACCCCATGCTGGTGGCCCTGGGCTCCCGAAAGAGCAGTGTCATGTCTCTAGGGAGGATGAGCTATGACCAGCGCTCCCTGGTGAGTCCTTGTGGGGAGCTCTGGACGGGCGCTTCCTGCTGGGGTGTGTGTGGAGGGGCCCTGAAGAGAGGTACCTGCCAGTCTAGCCTCAGACTCTGGTGCCCAGCCAAAGTCAGGCAGGGGCCATGTCTGTTGCATTCCTGGGTGCCCAGTGCCAGAGTGGGACCTGGCAATAAGGAACGAATGAAGGCCTAGTGCCAGTGGGGTCTGGTGCAGAGAATTGGATTTTCATCTCAGCAACAATGTGTAGGGTAAAAAGAGCTGGGCTTTGGAGTCAGGCAGACTGCAGCTTGAATCCACCTTCTGCCACTTCCAAGCTGTGTGACCAGGAGCAAATTACTGCCCTTCTCTGAGCCTCAGTTTCCTTACCTGCAAAATGGGAAGATGGCCCTAACTTGCTGTACCTTCCTCAAGGGAAGTGAGGTGGCAGGAGGGGATGTAACCTCCGGGTGGATGTGCCCCCATGTCCCTGTGGATGTGGATGGAGTGAGGTGGGACAGGGAGAGGAGCTCTAGGGTCAAGCCCATTCCATCACCCGCTGGCCAGGTGGGTGGTCTTAGAGCCA 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Task1_train_28834 | This variant affects the gene CACNA1I (calcium voltage-gated channel subunit alpha1 I) found on Chromosome 22. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Neurodevelopmental disorder with speech impairment and with or without seizures | AGCACTTTTTCTTCTATAACAGTAACTACAAGAGTATGTGGCAGGCACATAGTAGGTCCTTAGGAAAGTTTGTTGGACGAGGGCACAGCTCTGCCACACAGAGAAGACCTCTTTGTCCCTCTGCCTCCCAAGGGCAGAAGAATAGAGAGCTGAGGAGGGGTGGCTGCAGCTGGAGTCACTCACAGTCCTCACCCCTGCATTCCGCCTCCCCATGTCTCCCAGGCTCTGATGTCCCTCTTTGTCCTGGCATCCAAGGATGGTTGGGTGAACATCATGTACAATGGACTGGATGCTGTTGCTGTGGACCAGCAGGTGGGTGTAGCTGGGACCAGGCCAAGCCTTGATGCAGGGAGGAACATGGTGTCCTTGGGGCCCAGTGGTTTGAATTTGAAACTGGTGCCAATGAGTTCCACAGCCCCAGTGTCTCCCCACTGTCAGCACAGCCCACTCCTCACATCCTGGCCTGAATCTTCACCATTACAGTCCCTCCTCGGGTAGCGTAAGTCGTCGTTCCATTTGCTTTGGCAAACCCCCCCACTTTGTGTGAAGAGGCATCTGAGCTGCACCCTGCCTGGAAGGGTGCAGAGCCTGGTGGGTAGAGAACCAAGTGCAGGCAGAGAAGAGGGGCTGAGCCAGCTGGTAGAGGAACAGAGTGTGAGAGAGTGATGTGTTTAGGGAATTGGGAGTTGGGAGCCAGGAGTAGAAAGTGAGAGAGGCATGAGGTGGGGAGAGGAGGCAGGTAGTGTTAGGTGGTCTGCAAGCCCCCGGGTGTGCCATGACAAGGGGCAAAAGTTTATTCTGAGGGCAGAGAGAGCCGGTGAGGGACTTACAGCAAGAGTGGTGTCCCTGCTTGTCAGGTCTGCTTGTCAGTGCAGCTTCCTGAGGGCTGCTGGGTGAAGATGGATTTGGGGAGGGGGATTGGGTGGAGGAAGTCAGGGAGGAGACTCAGCCTTGGCTTCTGAGACCCCTGAGTAGCAGGGGTCCCTCTGGGGCTAGGCGGGGACTTTAGGCAAGACGTGTGGCTGACCAAGGTTGGCTGTGTCCAGACTGAGGGGGTCACTGGGAGAAGAAACAGAAAGATTCTCTAGCTCAAGACAGGGCCCACTCAGTGGTGGAAGCAGGGCTGTGTGCAACTCCCAGGCTGGTAATGGACCTCTGGCTCTTGGCTTCATGGGTCCCACCCAGTAAGGCTCTGGAGCTGGACGTGGGGGTGGCAGTATTGTGTGGGAGGAATGCGAACACTTGGACGCATCTTTCTCTATTTCCTTGTCTGCTCTGTCTCCTCACCCCCACCAGTGCATGCATGCACATGCGTACATGGATTCCACCAAGGAATCTGTGCATCCAAGTTCTCCCCTCTGCTGGCCGCCTTGTTTTCTGCCTTATTTCTGGATGGGCGAATAAGTGGCTGGTGGGTGGATGGATGGGTGGATGCATGGATGGGTGAATGGATGGATGGGTGGATGGATGAATGGATGGGTGGGTGGATGGATGGGTGGGTAGATAAATGAATGGGTGGCTGGCTGGCTGGCTGGTGGGTAGATGGATGGGTGGATGCATAGATGGGTGAATGGATAGATGGGTGGATGAGTGGATGGATGGGTGGGTGGATGGATGGATGGATGGGTGGTGGATGGATGGGTGGGTGAGTGGGAGGATAGGTGGATGGATGGATGGATGCATGCATAGGTGAATGAATGGATAGGTCAATGAGAGGAAGAAGACAGATGTTTCCAGGAGGCAGCCACTGAGCAGGGAAGGAGAGGTGGCTTTCTTGGCTGAGGACGATATTGTGCCATGCCCAGGGTATTTACTTCTTACCTGCTGCCTCATTTAGACCTCACAGCCACCTTCCTGGAGGCAGGCTCAACACATGCCCACTCCATGGAGGCTCAGCCAGGATGGGCACCTCCCCATGGCCCTGTAGGGCCCAATCAGCCTCCTCAGCCCTTTCTGACTCCCCTGCAGCCTGTGACCAACCACAACCCCTGGATGCTGCTGTACTTCATCTCCTTCCTGCTCATCGTCAGCTTCTTTGTGCTCAACATGTTTGTGGGTGTCGTGGTGGAGAACTTCCACAAGTGCCGGCAGCACCAGGAGGCTGAAGAGGCACGGCGGCGTGAGGAGAAGCGGCTGCGGCGCCTGGAGAAGAAGCGCCGGAGTGAGTGGGTGCCTGTGGAGGGCGTGGGCCACCCAGCTCTAAGCCCTTCTGCCTGGGCCTGACCCCAGCCTCCTGAGCCTTTGGAGCTGGAAGGGAACAAAAGATACAGCCCCTGTGCCCAGGGCTCAGCCACTTCTCCCAGCATCTTCCTGTCCAGGGGATCTGAGCCCCATCAGTGTCCATCCAGAGTCCAATGGCTGACACCACTGCCAACCTGAGTGAGGCTGTTGGGGGTTCAGCCCAGGCATAGGGCAAAGGCAGACCCTGGGTGCCCTGGGCCATGGGAAACCTGCCCTCCCAGCAGGCAGGCCCAGAGCTCCTGCCACAAGCTCATTTGGGGTAGATGGAGAGAATGAATGTCCTGCCTTCTTTGTCACCCTTCTCCACAGTTTCTCTCATGGTGCTTTGGCTGGGTGGAGGAGATCTAACACTGATCCCAGGGCCTGGGGTGGATCAACATCTTCCTCTTTGCCCCCTCCCTTTCCTCCACCTTTCTGTCCTTTGTGCTCTGTGCCCTTTCCCTTGACCCCAACCCTCTGTGGTCTTTGCCACTCCCCCTGCACCACCTGCAGAGGCCCAGCGGCTGCCCTACTATGCCACCTATTGTCACACCCGGCTGCTCATCCACTCCATGTGCACCAGCCACTACCTGGACATCTTCATCACCTTCATCATCTGCCTCAACGTGGTCACCATGTCCCTGGAGCACTACAATCAGCCCACGGTGAGCCCTGGTCTGCCTCCCAGCCCAAGGTTACAAGGTGAGGGTGGGGTCTCAGCAGGACCCCACCCCAGGGATAGGGTGGGGAAGGGGTTAGCTGATAGCAGGATGTGAGCAGCCCCTCCATGCTGGGCTCTATGCTGGGCACTGCAGTGGGAGGAGGTGCCGGACAAGCTTGCCCTCAGGAAGCTCAGAGTCTGGAAGGGAACGGTCAGAGGGAAGGTGGGTCAGGGAGGCAGGATTTGGACCGTGGCTTGCACATGGGTGGCAATGACTGTGATGTGTTAAATATTGACTCTTTGCAAGGCACGCTACATATATGAACTCTTTAATCCTCGCAGCAATCCTAAGGCTGGCAGGGGGAATCCTTTGTCTGGATTTTATAGGTGAAGAGCCTGAGGCTTAGAGAGGTTAAATATGCTGCCCAAATTACTCAGCCATAGGTAGTGGAACCAGGTCTGGAACTTAGATTTGCATTCAAAGCCTACCATGTAGCCTCCTTTACTACCTGGGTATATGGAGACGAGGCAAAAGGGTGGAAGGACCATTTCAGGCAAACACTGGGGGTGGGTGAGGATGACCATTTCCCAGCTTGTTGCAGACCAGGTATGTGAGGGGCATGTGAGGAGCAAGTGCATTCTAAAAACCCTGATGGAGTTGGAGGGGAAGAAGAGGGAAGCAGAGCCGCCAGGTGTGAAATTAATACCTTATTTCAAATGATGGGAGAGGAATATTATGAATGCAGAAAAAAGAAAGATAACCATTGGCAGAATGAAACAATAATTATACAACTTCCAAATTAACAGGAAAAATGGAATATTAATAGCTTACATTTACCAAGTATTATTCTGTTTCCAGCACCGAACTATCAGCTCATTTAATTTGCATACCAGCTTTCTAAGATGAAATGACTTACTCAAGATCATAAGGTGAATATGGAGTGAGCACTAAGCCAGGATTCAAATGTAGGCAGTCTGGCTCAGTAGCTCTTCATTAATACCCTATATTGCCTCCAAAGGTACCAACTCGACCAGATACACATAAATAAGAAAAAGGGAACAGAAGGAATAGCAGCATAAAATAAATAGTACACACTAAGATGGAAAGAATAAAAGCAGCATATAAATAATTACACTAAAAGTAAATGGACTAAATTCTCTCCTTAAAAGGCAGAGACTTTCTGAGTGGAGGAAGGTTGTGGAGCAGGTCATGTG 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AGCACTTTTTCTTCTATAACAGTAACTACAAGAGTATGTGGCAGGCACATAGTAGGTCCTTAGGAAAGTTTGTTGGACGAGGGCACAGCTCTGCCACACAGAGAAGACCTCTTTGTCCCTCTGCCTCCCAAGGGCAGAAGAATAGAGAGCTGAGGAGGGGTGGCTGCAGCTGGAGTCACTCACAGTCCTCACCCCTGCATTCCGCCTCCCCATGTCTCCCAGGCTCTGATGTCCCTCTTTGTCCTGGCATCCAAGGATGGTTGGGTGAACATCATGTACAATGGACTGGATGCTGTTGCTGTGGACCAGCAGGTGGGTGTAGCTGGGACCAGGCCAAGCCTTGATGCAGGGAGGAACATGGTGTCCTTGGGGCCCAGTGGTTTGAATTTGAAACTGGTGCCAATGAGTTCCACAGCCCCAGTGTCTCCCCACTGTCAGCACAGCCCACTCCTCACATCCTGGCCTGAATCTTCACCATTACAGTCCCTCCTCGGGTAGCGTAAGTCGTCGTTCCATTTGCTTTGGCAAACCCCCCCACTTTGTGTGAAGAGGCATCTGAGCTGCACCCTGCCTGGAAGGGTGCAGAGCCTGGTGGGTAGAGAACCAAGTGCAGGCAGAGAAGAGGGGCTGAGCCAGCTGGTAGAGGAACAGAGTGTGAGAGAGTGATGTGTTTAGGGAATTGGGAGTTGGGAGCCAGGAGTAGAAAGTGAGAGAGGCATGAGGTGGGGAGAGGAGGCAGGTAGTGTTAGGTGGTCTGCAAGCCCCCGGGTGTGCCATGACAAGGGGCAAAAGTTTATTCTGAGGGCAGAGAGAGCCGGTGAGGGACTTACAGCAAGAGTGGTGTCCCTGCTTGTCAGGTCTGCTTGTCAGTGCAGCTTCCTGAGGGCTGCTGGGTGAAGATGGATTTGGGGAGGGGGATTGGGTGGAGGAAGTCAGGGAGGAGACTCAGCCTTGGCTTCTGAGACCCCTGAGTAGCAGGGGTCCCTCTGGGGCTAGGCGGGGACTTTAGGCAAGACGTGTGGCTGACCAAGGTTGGCTGTGTCCAGACTGAGGGGGTCACTGGGAGAAGAAACAGAAAGATTCTCTAGCTCAAGACAGGGCCCACTCAGTGGTGGAAGCAGGGCTGTGTGCAACTCCCAGGCTGGTAATGGACCTCTGGCTCTTGGCTTCATGGGTCCCACCCAGTAAGGCTCTGGAGCTGGACGTGGGGGTGGCAGTATTGTGTGGGAGGAATGCGAACACTTGGACGCATCTTTCTCTATTTCCTTGTCTGCTCTGTCTCCTCACCCCCACCAGTGCATGCATGCACATGCGTACATGGATTCCACCAAGGAATCTGTGCATCCAAGTTCTCCCCTCTGCTGGCCGCCTTGTTTTCTGCCTTATTTCTGGATGGGCGAATAAGTGGCTGGTGGGTGGATGGATGGGTGGATGCATGGATGGGTGAATGGATGGATGGGTGGATGGATGAATGGATGGGTGGGTGGATGGATGGGTGGGTAGATAAATGAATGGGTGGCTGGCTGGCTGGCTGGTGGGTAGATGGATGGGTGGATGCATAGATGGGTGAATGGATAGATGGGTGGATGAGTGGATGGATGGGTGGGTGGATGGATGGATGGATGGGTGGTGGATGGATGGGTGGGTGAGTGGGAGGATAGGTGGATGGATGGATGGATGCATGCATAGGTGAATGAATGGATAGGTCAATGAGAGGAAGAAGACAGATGTTTCCAGGAGGCAGCCACTGAGCAGGGAAGGAGAGGTGGCTTTCTTGGCTGAGGACGATATTGTGCCATGCCCAGGGTATTTACTTCTTACCTGCTGCCTCATTTAGACCTCACAGCCACCTTCCTGGAGGCAGGCTCAACACATGCCCACTCCATGGAGGCTCAGCCAGGATGGGCACCTCCCCATGGCCCTGTAGGGCCCAATCAGCCTCCTCAGCCCTTTCTGACTCCCCTGCAGCCTGTGACCAACCACAACCCCTGGATGCTGCTGTACTTCATCTCCTTCCTGCTCATCGTCAGCTTCTTTGTGCTCAACATATTTGTGGGTGTCGTGGTGGAGAACTTCCACAAGTGCCGGCAGCACCAGGAGGCTGAAGAGGCACGGCGGCGTGAGGAGAAGCGGCTGCGGCGCCTGGAGAAGAAGCGCCGGAGTGAGTGGGTGCCTGTGGAGGGCGTGGGCCACCCAGCTCTAAGCCCTTCTGCCTGGGCCTGACCCCAGCCTCCTGAGCCTTTGGAGCTGGAAGGGAACAAAAGATACAGCCCCTGTGCCCAGGGCTCAGCCACTTCTCCCAGCATCTTCCTGTCCAGGGGATCTGAGCCCCATCAGTGTCCATCCAGAGTCCAATGGCTGACACCACTGCCAACCTGAGTGAGGCTGTTGGGGGTTCAGCCCAGGCATAGGGCAAAGGCAGACCCTGGGTGCCCTGGGCCATGGGAAACCTGCCCTCCCAGCAGGCAGGCCCAGAGCTCCTGCCACAAGCTCATTTGGGGTAGATGGAGAGAATGAATGTCCTGCCTTCTTTGTCACCCTTCTCCACAGTTTCTCTCATGGTGCTTTGGCTGGGTGGAGGAGATCTAACACTGATCCCAGGGCCTGGGGTGGATCAACATCTTCCTCTTTGCCCCCTCCCTTTCCTCCACCTTTCTGTCCTTTGTGCTCTGTGCCCTTTCCCTTGACCCCAACCCTCTGTGGTCTTTGCCACTCCCCCTGCACCACCTGCAGAGGCCCAGCGGCTGCCCTACTATGCCACCTATTGTCACACCCGGCTGCTCATCCACTCCATGTGCACCAGCCACTACCTGGACATCTTCATCACCTTCATCATCTGCCTCAACGTGGTCACCATGTCCCTGGAGCACTACAATCAGCCCACGGTGAGCCCTGGTCTGCCTCCCAGCCCAAGGTTACAAGGTGAGGGTGGGGTCTCAGCAGGACCCCACCCCAGGGATAGGGTGGGGAAGGGGTTAGCTGATAGCAGGATGTGAGCAGCCCCTCCATGCTGGGCTCTATGCTGGGCACTGCAGTGGGAGGAGGTGCCGGACAAGCTTGCCCTCAGGAAGCTCAGAGTCTGGAAGGGAACGGTCAGAGGGAAGGTGGGTCAGGGAGGCAGGATTTGGACCGTGGCTTGCACATGGGTGGCAATGACTGTGATGTGTTAAATATTGACTCTTTGCAAGGCACGCTACATATATGAACTCTTTAATCCTCGCAGCAATCCTAAGGCTGGCAGGGGGAATCCTTTGTCTGGATTTTATAGGTGAAGAGCCTGAGGCTTAGAGAGGTTAAATATGCTGCCCAAATTACTCAGCCATAGGTAGTGGAACCAGGTCTGGAACTTAGATTTGCATTCAAAGCCTACCATGTAGCCTCCTTTACTACCTGGGTATATGGAGACGAGGCAAAAGGGTGGAAGGACCATTTCAGGCAAACACTGGGGGTGGGTGAGGATGACCATTTCCCAGCTTGTTGCAGACCAGGTATGTGAGGGGCATGTGAGGAGCAAGTGCATTCTAAAAACCCTGATGGAGTTGGAGGGGAAGAAGAGGGAAGCAGAGCCGCCAGGTGTGAAATTAATACCTTATTTCAAATGATGGGAGAGGAATATTATGAATGCAGAAAAAAGAAAGATAACCATTGGCAGAATGAAACAATAATTATACAACTTCCAAATTAACAGGAAAAATGGAATATTAATAGCTTACATTTACCAAGTATTATTCTGTTTCCAGCACCGAACTATCAGCTCATTTAATTTGCATACCAGCTTTCTAAGATGAAATGACTTACTCAAGATCATAAGGTGAATATGGAGTGAGCACTAAGCCAGGATTCAAATGTAGGCAGTCTGGCTCAGTAGCTCTTCATTAATACCCTATATTGCCTCCAAAGGTACCAACTCGACCAGATACACATAAATAAGAAAAAGGGAACAGAAGGAATAGCAGCATAAAATAAATAGTACACACTAAGATGGAAAGAATAAAAGCAGCATATAAATAATTACACTAAAAGTAAATGGACTAAATTCTCTCCTTAAAAGGCAGAGACTTTCTGAGTGGAGGAAGGTTGTGGAGCAGGTCATGTG 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Task1_train_28835 | Chromosome 22 houses a mutation in gene TNRC6B (trinucleotide repeat containing adaptor 6B). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Global developmental delay with speech and behavioral abnormalities | AAAGTCTTTTTTTTTTTTTTTTGAGATGGAATTTCACTCTTGTTGCCCATGCTGGAGTGCAATGGCACCATCTTGGCTCACCACAACCTCCGCCTCCCAGCTTGAGGCAATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTGCATGTTGGTCAGGCTGGTCTTGAACTCTTGACCTCAGGTAATCCACCCACCTCAGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCTCTAAAGTCTTTTTTTAACCTTTTTATTTTTTTAAAGAGATGATAGCTCGCTATGTTGCCCAGGTGTTCTCAATCTCCTAGGCACAAGCTAGTCCCCCAAACTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCTAGGACTAAATTCTTGGCCATTGTGCTACACTACTTGGCACTCACGGACACGTTCTTAAGCTTGTTCTCCATGGCCCCAACTAGTCCAGTGGGTTCAGTAGATGAGGGTGCAGGGAAACTCACTTCTTCTTACTTAAATCATCTTAGAGGAGCAAACCAAAGATAGGAGGGAATCCTCTGTCGCCAGAGCTTCCTGCAGCCTCGCCTAGCTCACTCCTGAGAACAGGGAGAAGGACCCTGCCGGGTCAGTGACCTTCCAGGCTCTTTGATGCTGGCTCTTTTTTTACACTGCCACTCTGTGGGTGTTTGCTATCAGAAGCCATGCATTGAAACTCATGTCTTCTATTTACAAGTTAATATATTTGTCTTACTTGTAGCACAGAAATACTTTCACGTAAGTATTATTTATTAGCTTTATGCAATGTAGCATGTTTTGTTTTATGGCACATTTCCAGTAATAATTTCTTGGTTGGATAAAAGCCATATTGTCATCAATTTTTTTTTCTTGAAGATGTTTTCCTGAATATAAAATTTATACTTTTTATTGTAGAAAATTGGAAAGTCTAAGAAGAAAATTTAAAAACTGTTGTAATCTCACTGCTCCAAGATAATCATTGTTAACCCTTGAGTGTATTTTTCCTGTTATATATTTTTCACAGAAAAGTTTGACAACTCTTGCTTTAGATTCATCAAGATTCTTTTCACAGAAAAACAGTTTTATTTTGATAAATTCTGAAGATTCCTTTTCTTTTCTTTCTTTTTTATTTTTTTGGCTAGGTTTCTGCCTCAATGCTCAAGCAGTTTCCCAACAGTGGCCTGAGTCCAGGTCTTTTCAATGTGGGGCCCCAGTTATCTCCTCAACAAATTGCCATGCTGAGCCAGCTTCCACAAATTCCCCAGTTTCAGTTGGTAAGTAGAAGATTTTCTTCCTGTGGCTAAAAAGGTCATTTGCTTTTTTTTTTTCTTTAGCTTTGATTTGCTTCCCACATCTTTGCCACTTTCTATGTTCAAAGGGTGCTAGTCCACACTTCTTTGCAAACTATGGAGTGTGCTTAAGGGTTGTCAGCTCAACTGGAGGAAAATGTAACCAAGAGACCGGGAATTTGGTGTTACTTCCCTCCTGGATACTTTTGATTGTGTGACCTGTACTTCAGTGCACAGACCCTTTAGGTGTCCTCAGTAAATCAATCTCAGGAAACTTTGGTTTTCTGTCTTTCCCCCTTGTTTTGTAGGCATGTCAGCTTCTCTTGCAGCAGCAGCAACAGCAGCAGTTGTTACAGAACCAGAGAAAGATTTCTCAAGCTGTACGCCAACAGCAAGAGCAGCAGGTACGTGGGTAGGCAGGGTCCCTCCAGTGCTGTGTTGGAGGAGTACATCCCGGCTTAGCCTCTGATGGCAAAGAACCGGGCACAGTCTTTTCCTGGGAAGTTCGGGGCCGTGCTTATCACGTGTCTGTCTCTCTTGGCCCTCAGCTGGCTCGAATGGTGAGTGCACTGCAGCAGCAGCAGCAGCAGCAGCAGAGGCAGCCAGGCATGAAGCACTCGCCCTCTCATCCTGTTGGGCCCAAGCCGCATCTGGACAACATGGTACCCAACGCATTGAATGTGGGGCTCCCAGACCTTCAAACCAAAGGGCCAATACCTGGATATGGTTCTGGTAAGTTGTTGGTAGAGAAAATTACCTTTTTAGAAATCTACCTCTCTAGGCCTGTGGTAGGGGTTGCACCTGCATTACCCTCCTTTTTTATGTCAGCTGTACAAGGTAGGTAAATATTCTTATCCCTGGTTTACAGATGAGACATCTGAGGCTTCTTGAGTTTCAGTGGGTTTCCAGAGCTCACCACATGGTTACTAAATAGCAGAGCCAGGCCTCTAACTTCTCTGGCTCCAAAGCAGTCTTCCTTTTTTTTGTGTGTGTGTGTGTGTCTGGTTTATTTTATTTAACACAGTAAAGGCTCATACATGCTATAGCACATATCAGAATTCATCCCTTTCTAAGGCTGGGTAATACTCCATTGTGCAGATATACCACAGTGTGTTTACCCACTTTTCTGCTGAAATGGATAAACTTGGATTGTTTCCACCTTTTAACTACAAGTTGAGCATCCCCTAATCTAAAAATCCAAAATGCCCCAAAATCTGAAACTTTTTGATCACCAGCATGAAGCCAGCAGTCTTTCAATACGTGTGTATGAATGGCAAACTGCTCTCCTACCGCCGGGAATTTTTAAAACCCTATTTAAATGCTTGTGCATGCTGTGAGTGGTACACATGGCTGAGGTTATGATCTGTTAAAATATGTACTAGTTTGAAATGTTTTAGTGTACTCATATTAATAAAATTGCCTTCTATAGAAAAAATGAACTAAAATTATAGTGCAGATTGATAAAAATTCATTTGATATTAGTATTTCATCTGATTTAAATAGAATTAGAACAAGTAAGGTTATGCCTTTAACATTCTTCAAGAATTTTTTGGCAGGCAAATCATAGCTCTTTCAGAACTGGAAAACATGCTGTAAGCAGAATCTAATTGGTGAGGAAACAGTGATTTCAAAACAAAATTTTAAAATGGAAAAGATACCACACACCATCATAGTTTCATCTCAAACTGACAACATTTAGAATTTATCTTCTAAAGAAGATACTGTTCTACGCACACTCAAAAAACGAGTTGGGCCGCGCGCGGTGACTCACACCTGTAATCCCAGCCCCTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCAGCCTGGCCAATGTAGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCGGACGTTGTGGCATGCGCCTCTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGACGGAGGTTGCAGTGAGCTGAGATTGTGCCCCTGCACTCCCACCTGGGTGATAGAGCAAGACCCCATCTCAAAAAAAAAAAAAAAAAAAGAGTTGGGAAGACATGAAATTGCTGGTTCTAGGTGACAGTGTGACCCTGGACAAATGGCAGCGGCTGACTGTGCGCCAACCCCGTGATCCTCCTACTGCACGTGCAGGGGGTGAGCAAAGACTTCAAGGTGTTCTTGATCTTGATCTGGATATTTTAACGGAATTACTTTGTAGATCCTTAGCTTCCACCAACTGTTTTCATTCTTAAAGATGATCTGCCTGATAACTGACTTAAATTCGAAATAACTTTTCTTGCACTTGATATAGAAGAAGGTCAGCTCTGTGCTCATCTGGGCTGCAAAACACCAGGGTACCAAACATGGCGGGGCCTCCCTTGATTACTAACAAAGGTGTCCTTATGCTGTATTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTCGCCCAACCTCCACCTCCCACAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGATGGGATTACAGGCACATGCCACCACTCCCAGCTAATTTTTGTATAGTAGAGATGGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCGTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACTGCACCTGGCCGATTC 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AAAGTCTTTTTTTTTTTTTTTTGAGATGGAATTTCACTCTTGTTGCCCATGCTGGAGTGCAATGGCACCATCTTGGCTCACCACAACCTCCGCCTCCCAGCTTGAGGCAATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTGCATGTTGGTCAGGCTGGTCTTGAACTCTTGACCTCAGGTAATCCACCCACCTCAGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCTCTAAAGTCTTTTTTTAACCTTTTTATTTTTTTAAAGAGATGATAGCTCGCTATGTTGCCCAGGTGTTCTCAATCTCCTAGGCACAAGCTAGTCCCCCAAACTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCTAGGACTAAATTCTTGGCCATTGTGCTACACTACTTGGCACTCACGGACACGTTCTTAAGCTTGTTCTCCATGGCCCCAACTAGTCCAGTGGGTTCAGTAGATGAGGGTGCAGGGAAACTCACTTCTTCTTACTTAAATCATCTTAGAGGAGCAAACCAAAGATAGGAGGGAATCCTCTGTCGCCAGAGCTTCCTGCAGCCTCGCCTAGCTCACTCCTGAGAACAGGGAGAAGGACCCTGCCGGGTCAGTGACCTTCCAGGCTCTTTGATGCTGGCTCTTTTTTTACACTGCCACTCTGTGGGTGTTTGCTATCAGAAGCCATGCATTGAAACTCATGTCTTCTATTTACAAGTTAATATATTTGTCTTACTTGTAGCACAGAAATACTTTCACGTAAGTATTATTTATTAGCTTTATGCAATGTAGCATGTTTTGTTTTATGGCACATTTCCAGTAATAATTTCTTGGTTGGATAAAAGCCATATTGTCATCAATTTTTTTTTCTTGAAGATGTTTTCCTGAATATAAAATTTATACTTTTTATTGTAGAAAATTGGAAAGTCTAAGAAGAAAATTTAAAAACTGTTGTAATCTCACTGCTCCAAGATAATCATTGTTAACCCTTGAGTGTATTTTTCCTGTTATATATTTTTCACAGAAAAGTTTGACAACTCTTGCTTTAGATTCATCAAGATTCTTTTCACAGAAAAACAGTTTTATTTTGATAAATTCTGAAGATTCCTTTTCTTTTCTTTCTTTTTTATTTTTTTGGCTAGGTTTCTGCCTCAATGCTCAAGCAGTTTCCCAACAGTGGCCTGAGTCCAGGTCTTTTCAATGTGGGGCCCCAGTTATCTCCTCAACAAATTGCCATGCTGAGCCAGCTTCCACAAATTCCCCAGTTTCAGTTGGTAAGTAGAAGATTTTCTTCCTGTGGCTAAAAAGGTCATTTGCTTTTTTTTTTTCTTTAGCTTTGATTTGCTTCCCACATCTTTGCCACTTTCTATGTTCAAAGGGTGCTAGTCCACACTTCTTTGCAAACTATGGAGTGTGCTTAAGGGTTGTCAGCTCAACTGGAGGAAAATGTAACCAAGAGACCGGGAATTTGGTGTTACTTCCCTCCTGGATACTTTTGATTGTGTGACCTGTACTTCAGTGCACAGACCCTTTAGGTGTCCTCAGTAAATCAATCTCAGGAAACTTTGGTTTTCTGTCTTTCCCCCTTGTTTTGTAGGCATGTCAGCTTCTCTTGCAGCAGCAGCAACAGCAGCAGTTGTTACAGAACCAGAGAAAGATTTCTCAAGCTGTACGCCAACAGCAAGAGCAGCAGGTACGTGGGTAGGCAGGGTCCCTCCAGTGCTGTGTTGGAGGAGTACATCCCGGCTTAGCCTCTGATGGCAAAGAACCGGGCACAGTCTTTTCCTGGGAAGTTCGGGGCCGTGCTTATCACGTGTCTGTCTCTCTTGGCCCTCAGCTGGCTCGAATGGTGAGTGCACTGCAGCAGCAGCAGCAGCAGCAGCAGAGGCAGCCAGGCATGAAGCACTCGCCCTCTCATCCTGTTGGGCCCAAGCCGCATCTGGACAACATGGTACCCAACGCATTGAATGAGGGGCTCCCAGACCTTCAAACCAAAGGGCCAATACCTGGATATGGTTCTGGTAAGTTGTTGGTAGAGAAAATTACCTTTTTAGAAATCTACCTCTCTAGGCCTGTGGTAGGGGTTGCACCTGCATTACCCTCCTTTTTTATGTCAGCTGTACAAGGTAGGTAAATATTCTTATCCCTGGTTTACAGATGAGACATCTGAGGCTTCTTGAGTTTCAGTGGGTTTCCAGAGCTCACCACATGGTTACTAAATAGCAGAGCCAGGCCTCTAACTTCTCTGGCTCCAAAGCAGTCTTCCTTTTTTTTGTGTGTGTGTGTGTGTCTGGTTTATTTTATTTAACACAGTAAAGGCTCATACATGCTATAGCACATATCAGAATTCATCCCTTTCTAAGGCTGGGTAATACTCCATTGTGCAGATATACCACAGTGTGTTTACCCACTTTTCTGCTGAAATGGATAAACTTGGATTGTTTCCACCTTTTAACTACAAGTTGAGCATCCCCTAATCTAAAAATCCAAAATGCCCCAAAATCTGAAACTTTTTGATCACCAGCATGAAGCCAGCAGTCTTTCAATACGTGTGTATGAATGGCAAACTGCTCTCCTACCGCCGGGAATTTTTAAAACCCTATTTAAATGCTTGTGCATGCTGTGAGTGGTACACATGGCTGAGGTTATGATCTGTTAAAATATGTACTAGTTTGAAATGTTTTAGTGTACTCATATTAATAAAATTGCCTTCTATAGAAAAAATGAACTAAAATTATAGTGCAGATTGATAAAAATTCATTTGATATTAGTATTTCATCTGATTTAAATAGAATTAGAACAAGTAAGGTTATGCCTTTAACATTCTTCAAGAATTTTTTGGCAGGCAAATCATAGCTCTTTCAGAACTGGAAAACATGCTGTAAGCAGAATCTAATTGGTGAGGAAACAGTGATTTCAAAACAAAATTTTAAAATGGAAAAGATACCACACACCATCATAGTTTCATCTCAAACTGACAACATTTAGAATTTATCTTCTAAAGAAGATACTGTTCTACGCACACTCAAAAAACGAGTTGGGCCGCGCGCGGTGACTCACACCTGTAATCCCAGCCCCTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCAGCCTGGCCAATGTAGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCGGACGTTGTGGCATGCGCCTCTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGACGGAGGTTGCAGTGAGCTGAGATTGTGCCCCTGCACTCCCACCTGGGTGATAGAGCAAGACCCCATCTCAAAAAAAAAAAAAAAAAAAGAGTTGGGAAGACATGAAATTGCTGGTTCTAGGTGACAGTGTGACCCTGGACAAATGGCAGCGGCTGACTGTGCGCCAACCCCGTGATCCTCCTACTGCACGTGCAGGGGGTGAGCAAAGACTTCAAGGTGTTCTTGATCTTGATCTGGATATTTTAACGGAATTACTTTGTAGATCCTTAGCTTCCACCAACTGTTTTCATTCTTAAAGATGATCTGCCTGATAACTGACTTAAATTCGAAATAACTTTTCTTGCACTTGATATAGAAGAAGGTCAGCTCTGTGCTCATCTGGGCTGCAAAACACCAGGGTACCAAACATGGCGGGGCCTCCCTTGATTACTAACAAAGGTGTCCTTATGCTGTATTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTCGCCCAACCTCCACCTCCCACAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGATGGGATTACAGGCACATGCCACCACTCCCAGCTAATTTTTGTATAGTAGAGATGGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCGTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACTGCACCTGGCCGATTC 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Task1_train_28836 | A mutation in ADSL (adenylosuccinate lyase), located on Chromosome 22, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Adenylosuccinate lyase deficiency | GAAGAATGAAGCATCAACTTAATAAACTCTTGGCGTAGATAGCGATAGTAGTAGACCTTAATCATGTGTTGTGGTTTGTGATGTACTAGTGTGTACTCTTTCTATTTCATCTGATATTCTATTCTGTAGATGAGGGTAGTGGTACTCAAGACTTTGCCAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAAAAACTTGGAGAATAAGAGATTAGGAGGAATGCAGAAAATTTGTAGTAAGGAAAGTATGAATTTTGAAAAGATAAATTGCTTGAGGGGAGGAAGCAGTATGGCCGTGCTGCCCTCTGCTGCTTTGCTTTGGAAGGAGCCCAGAGGTGTCATGTCTTCTGTGACTGTAAAGGTTCCAGGCAGTTCTGCCACATGTGGCTGCCGAGTACTTGAAATGCAGCTAGTGTGACTGAGAAACTGACTTTTTACTTTTATTTATATATTTAGGTTTTGAGACTGGGTCTGGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCACAATCTTGGCTCGTTACAACCTCTGCATCCTGGGCTCAAGCTGTCCTCTCACCTCAGCCTCCCAAGCTGGAACTAGAGGTGCACGCCACCACGCCCGGCAAATTTTTGTGTTGTTTTGTAGAGATGGGTCTCACTGTGTTTTCCAGTGCGGTCTAGAACTTCTGGACTCAAGCGATCCACCGACCTTGGCCTCCCAAAGATGTGAGCCACCATACCTGGCCTGACTTTTTACTTATAAATATTTTCCAATACTTTTTAATTAATCAATTTAAATTTAAATAGCCATATCTGGCTAGTAGCTCCTTTCTTGGATAAAAAAGATCTAAGATGCAAGATCCTTCCCGGAGTCACTGTTTGCAAGTTTCAAGTGAGGTTTAAATCAGTTTCACCACTGTTTGTATTCAGCCCTTGGATCTAAGTTCCGAGCTGCCTGTGGGCTGCCAGCTATTTTTTGCAGCCTAATTTTTCCAGTGATGGATGAATGTAAGACATCAATGTGTTTATTTTCTCATCAATATCTCCTGGAATTGCTTTCAGTTGCACTCATTTGCTGTATATAATTTCCTGGCAAAACTACTTACAGAATTTCTAAATTTGGTTTCTGTAAATCCATCTAAGTAAAATGGCCACCATCATGCCAAGCACTAAGGATTAAGCAATAAATAAAACAAAGCTCCTCAAGAAGTATTCATTCTAGAGGGAAATGACAGGTTAATAAATATGTAAAAATGTCATGTGGTGATAAGTGCTGTAAATAAAACCAAGTGACACAGAGTGTGTTTTACATTGAAGTCAGGGAAGACCTCTTTGAGAAGATGACATTTGATTCCAGAGAGCAGAATGTGTGAGGGAGTGAACCAAGCAGAGGTCTCAGGCAGAAGGAACAGTCAAGAGCAGGATTATGTTGTTGTTTTATTTATTGGAGCTTTCTTTTTTTTTTTTTTTTGGAGACAGAGGCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGCCGCAATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGCGATTCTCCAACCTCAGCCTCCTGAGTAGCTAGGACTACAGGTGCACGCCACCATGCCTGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCGTTGTTGCCCAGGCTGGTCTGTTGGAGCTTTGTTATAGTATACTTTACCATGATTCATTGAGAAGTTCTCTCCCACCCCACCTCGACCCCACTACCCCTGGCCAGTGTACTTTCAACTTGGTTGCCTCAAATTTTAATTTAAGGGTTGGGAGATAGGGTAGTGCTGCTAACATGAATCAGTTTTTTTTCCTTGGTGTCACTTCATTCAAATAACTGTGACACTGAGACTATTTTATTTTATTTTGCCTATTCTGCAGACATTGGGTTTGCCTATCACAGATGAACAAATCCAGGAGATGAAATCAAACCTGGAGAACATCGACTTCAAGATGGCAGCTGAGGAAGAGAAACGTTTACGACATGATGTGATGGCTCACGTGCACACATTTGGCCACTGCTGTCCAAAAGCTGCAGGCATTATTCACCTTGGTGCTACTTCTTGCTATGTTGGAGACAATACTGTAGGCGCCTGTGTTGTTTATACTTAAAACTCAGTCTCTAGAATCTATTTGTCAATTTTATTTGATGTTGTCCAGTTGAGGAAGTGACACTATAGATCTTTTTTTTTTTTTTGAGGCAGAGTCTCCCTCTGTCTCCCAGACTGGAGTGCAGTGGCACGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACACTCGGCTAATTTTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCTATCTCCTGACCTCGTGATCCACCCCCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAGATCTTTATTTTTAAAGGTATCTTGGTTGAAAACGCTGAGGAATTTTTTCAGCTTTTAGTGTGCTTCCAATCTAAACTGTAAGCACCAAATGACCTCTATAAAATAAGACCTACAGATCCTGCTTATGCATTGGTTTGCTGGATGTAAGCCAAGGCCTTAGCATTTTAATGGCTGAGGTAATTTTTCAAAGGAATTTTTTTTTTTTCTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCGGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAATTGATTCCTGTGTCTCGGCCTCCCCAGTAGCTGGGATTCCACGCGCCTGCCACCACGCCGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGTTTTGCCATGTTGGTCAGGCTGGTCTTGAACTCCTAGCCTCAGGTTATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGAGTGCTGAGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAAAGGACTTGTGAAATCCTTTGAAGACCTTTGAAGGACTCTGAAGTCCTTCAAAGACCCTGTCTCAAAAAAAATACTTTGAGACAGGGTCTCGCTTCTGTCACCTAGGCTGGAGTGCAGTGACACGAACATGGCTCACTGCAGCCTTGACCTTCTGGGCTCAAGTGATTCTCCCACCTCGGGCTCCTGAGTAGCTGGGACCACAGGCATGTGCCACTGCACCAGGCTAATTAAAAAAAAATTTTTTTTTTTTTTGGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCGCCTGCCGCCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCAGACGATCTACCCTCCTCAGCCCCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCACGCCTGGCAAATTTTTAAAATATTTATAGGGACAGTGTTTCACCATGCTGCCCAGAATGGCCTTGAACTCCTGTGTTCAAACAGTCCTCCTGCCTTAGCCTCCCAAAGTCCTGGGATTACAGGAGTGAGCCAGCGTACCTGGCCTAGCTTGTGCTCTTAATCAGAGTATACCCATGGAGGTTGAAGTTAGATTCCAGATAAACGTCCAATTTGAGAATAAGCCAGTAATTTTTAAGTTGCCTCAAATGCTTTCTTATTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTCTCCTGCCTCAGCCTTCCAAGTAGCTAGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCC 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GAAGAATGAAGCATCAACTTAATAAACTCTTGGCGTAGATAGCGATAGTAGTAGACCTTAATCATGTGTTGTGGTTTGTGATGTACTAGTGTGTACTCTTTCTATTTCATCTGATATTCTATTCTGTAGATGAGGGTAGTGGTACTCAAGACTTTGCCAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAAAAACTTGGAGAATAAGAGATTAGGAGGAATGCAGAAAATTTGTAGTAAGGAAAGTATGAATTTTGAAAAGATAAATTGCTTGAGGGGAGGAAGCAGTATGGCCGTGCTGCCCTCTGCTGCTTTGCTTTGGAAGGAGCCCAGAGGTGTCATGTCTTCTGTGACTGTAAAGGTTCCAGGCAGTTCTGCCACATGTGGCTGCCGAGTACTTGAAATGCAGCTAGTGTGACTGAGAAACTGACTTTTTACTTTTATTTATATATTTAGGTTTTGAGACTGGGTCTGGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCACAATCTTGGCTCGTTACAACCTCTGCATCCTGGGCTCAAGCTGTCCTCTCACCTCAGCCTCCCAAGCTGGAACTAGAGGTGCACGCCACCACGCCCGGCAAATTTTTGTGTTGTTTTGTAGAGATGGGTCTCACTGTGTTTTCCAGTGCGGTCTAGAACTTCTGGACTCAAGCGATCCACCGACCTTGGCCTCCCAAAGATGTGAGCCACCATACCTGGCCTGACTTTTTACTTATAAATATTTTCCAATACTTTTTAATTAATCAATTTAAATTTAAATAGCCATATCTGGCTAGTAGCTCCTTTCTTGGATAAAAAAGATCTAAGATGCAAGATCCTTCCCGGAGTCACTGTTTGCAAGTTTCAAGTGAGGTTTAAATCAGTTTCACCACTGTTTGTATTCAGCCCTTGGATCTAAGTTCCGAGCTGCCTGTGGGCTGCCAGCTATTTTTTGCAGCCTAATTTTTCCAGTGATGGATGAATGTAAGACATCAATGTGTTTATTTTCTCATCAATATCTCCTGGAATTGCTTTCAGTTGCACTCATTTGCTGTATATAATTTCCTGGCAAAACTACTTACAGAATTTCTAAATTTGGTTTCTGTAAATCCATCTAAGTAAAATGGCCACCATCATGCCAAGCACTAAGGATTAAGCAATAAATAAAACAAAGCTCCTCAAGAAGTATTCATTCTAGAGGGAAATGACAGGTTAATAAATATGTAAAAATGTCATGTGGTGATAAGTGCTGTAAATAAAACCAAGTGACACAGAGTGTGTTTTACATTGAAGTCAGGGAAGACCTCTTTGAGAAGATGACATTTGATTCCAGAGAGCAGAATGTGTGAGGGAGTGAACCAAGCAGAGGTCTCAGGCAGAAGGAACAGTCAAGAGCAGGATTATGTTGTTGTTTTATTTATTGGAGCTTTCTTTTTTTTTTTTTTTTGGAGACAGAGGCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGCCGCAATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGCGATTCTCCAACCTCAGCCTCCTGAGTAGCTAGGACTACAGGTGCACGCCACCATGCCTGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCGTTGTTGCCCAGGCTGGTCTGTTGGAGCTTTGTTATAGTATACTTTACCATGATTCATTGAGAAGTTCTCTCCCACCCCACCTCGACCCCACTACCCCTGGCCAGTGTACTTTCAACTTGGTTGCCTCAAATTTTAATTTAAGGGTTGGGAGATAGGGTAGTGCTGCTAACATGAATCAGTTTTTTTTCCTTGGTGTCACTTCATTCAAATAACTGTGACACTGAGACTATTTTATTTTATTTTGCCTATTCTGCAGACATTGGGTTTGCCTATCACAGATGAACACATCCAGGAGATGAAATCAAACCTGGAGAACATCGACTTCAAGATGGCAGCTGAGGAAGAGAAACGTTTACGACATGATGTGATGGCTCACGTGCACACATTTGGCCACTGCTGTCCAAAAGCTGCAGGCATTATTCACCTTGGTGCTACTTCTTGCTATGTTGGAGACAATACTGTAGGCGCCTGTGTTGTTTATACTTAAAACTCAGTCTCTAGAATCTATTTGTCAATTTTATTTGATGTTGTCCAGTTGAGGAAGTGACACTATAGATCTTTTTTTTTTTTTTGAGGCAGAGTCTCCCTCTGTCTCCCAGACTGGAGTGCAGTGGCACGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACACTCGGCTAATTTTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCTATCTCCTGACCTCGTGATCCACCCCCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAGATCTTTATTTTTAAAGGTATCTTGGTTGAAAACGCTGAGGAATTTTTTCAGCTTTTAGTGTGCTTCCAATCTAAACTGTAAGCACCAAATGACCTCTATAAAATAAGACCTACAGATCCTGCTTATGCATTGGTTTGCTGGATGTAAGCCAAGGCCTTAGCATTTTAATGGCTGAGGTAATTTTTCAAAGGAATTTTTTTTTTTTCTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCGGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAATTGATTCCTGTGTCTCGGCCTCCCCAGTAGCTGGGATTCCACGCGCCTGCCACCACGCCGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGTTTTGCCATGTTGGTCAGGCTGGTCTTGAACTCCTAGCCTCAGGTTATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGAGTGCTGAGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAAAGGACTTGTGAAATCCTTTGAAGACCTTTGAAGGACTCTGAAGTCCTTCAAAGACCCTGTCTCAAAAAAAATACTTTGAGACAGGGTCTCGCTTCTGTCACCTAGGCTGGAGTGCAGTGACACGAACATGGCTCACTGCAGCCTTGACCTTCTGGGCTCAAGTGATTCTCCCACCTCGGGCTCCTGAGTAGCTGGGACCACAGGCATGTGCCACTGCACCAGGCTAATTAAAAAAAAATTTTTTTTTTTTTTGGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCGCCTGCCGCCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCAGACGATCTACCCTCCTCAGCCCCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCACGCCTGGCAAATTTTTAAAATATTTATAGGGACAGTGTTTCACCATGCTGCCCAGAATGGCCTTGAACTCCTGTGTTCAAACAGTCCTCCTGCCTTAGCCTCCCAAAGTCCTGGGATTACAGGAGTGAGCCAGCGTACCTGGCCTAGCTTGTGCTCTTAATCAGAGTATACCCATGGAGGTTGAAGTTAGATTCCAGATAAACGTCCAATTTGAGAATAAGCCAGTAATTTTTAAGTTGCCTCAAATGCTTTCTTATTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTCTCCTGCCTCAGCCTTCCAAGTAGCTAGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCC 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Task1_train_28837 | This alteration occurs within gene ADSL (adenylosuccinate lyase) located on Chromosome 22. Is it associated with a disease or is it a benign variant? | Pathogenic; Adenylosuccinate lyase deficiency | CTAGTGTGTACTCTTTCTATTTCATCTGATATTCTATTCTGTAGATGAGGGTAGTGGTACTCAAGACTTTGCCAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAAAAACTTGGAGAATAAGAGATTAGGAGGAATGCAGAAAATTTGTAGTAAGGAAAGTATGAATTTTGAAAAGATAAATTGCTTGAGGGGAGGAAGCAGTATGGCCGTGCTGCCCTCTGCTGCTTTGCTTTGGAAGGAGCCCAGAGGTGTCATGTCTTCTGTGACTGTAAAGGTTCCAGGCAGTTCTGCCACATGTGGCTGCCGAGTACTTGAAATGCAGCTAGTGTGACTGAGAAACTGACTTTTTACTTTTATTTATATATTTAGGTTTTGAGACTGGGTCTGGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCACAATCTTGGCTCGTTACAACCTCTGCATCCTGGGCTCAAGCTGTCCTCTCACCTCAGCCTCCCAAGCTGGAACTAGAGGTGCACGCCACCACGCCCGGCAAATTTTTGTGTTGTTTTGTAGAGATGGGTCTCACTGTGTTTTCCAGTGCGGTCTAGAACTTCTGGACTCAAGCGATCCACCGACCTTGGCCTCCCAAAGATGTGAGCCACCATACCTGGCCTGACTTTTTACTTATAAATATTTTCCAATACTTTTTAATTAATCAATTTAAATTTAAATAGCCATATCTGGCTAGTAGCTCCTTTCTTGGATAAAAAAGATCTAAGATGCAAGATCCTTCCCGGAGTCACTGTTTGCAAGTTTCAAGTGAGGTTTAAATCAGTTTCACCACTGTTTGTATTCAGCCCTTGGATCTAAGTTCCGAGCTGCCTGTGGGCTGCCAGCTATTTTTTGCAGCCTAATTTTTCCAGTGATGGATGAATGTAAGACATCAATGTGTTTATTTTCTCATCAATATCTCCTGGAATTGCTTTCAGTTGCACTCATTTGCTGTATATAATTTCCTGGCAAAACTACTTACAGAATTTCTAAATTTGGTTTCTGTAAATCCATCTAAGTAAAATGGCCACCATCATGCCAAGCACTAAGGATTAAGCAATAAATAAAACAAAGCTCCTCAAGAAGTATTCATTCTAGAGGGAAATGACAGGTTAATAAATATGTAAAAATGTCATGTGGTGATAAGTGCTGTAAATAAAACCAAGTGACACAGAGTGTGTTTTACATTGAAGTCAGGGAAGACCTCTTTGAGAAGATGACATTTGATTCCAGAGAGCAGAATGTGTGAGGGAGTGAACCAAGCAGAGGTCTCAGGCAGAAGGAACAGTCAAGAGCAGGATTATGTTGTTGTTTTATTTATTGGAGCTTTCTTTTTTTTTTTTTTTTGGAGACAGAGGCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGCCGCAATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGCGATTCTCCAACCTCAGCCTCCTGAGTAGCTAGGACTACAGGTGCACGCCACCATGCCTGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCGTTGTTGCCCAGGCTGGTCTGTTGGAGCTTTGTTATAGTATACTTTACCATGATTCATTGAGAAGTTCTCTCCCACCCCACCTCGACCCCACTACCCCTGGCCAGTGTACTTTCAACTTGGTTGCCTCAAATTTTAATTTAAGGGTTGGGAGATAGGGTAGTGCTGCTAACATGAATCAGTTTTTTTTCCTTGGTGTCACTTCATTCAAATAACTGTGACACTGAGACTATTTTATTTTATTTTGCCTATTCTGCAGACATTGGGTTTGCCTATCACAGATGAACAAATCCAGGAGATGAAATCAAACCTGGAGAACATCGACTTCAAGATGGCAGCTGAGGAAGAGAAACGTTTACGACATGATGTGATGGCTCACGTGCACACATTTGGCCACTGCTGTCCAAAAGCTGCAGGCATTATTCACCTTGGTGCTACTTCTTGCTATGTTGGAGACAATACTGTAGGCGCCTGTGTTGTTTATACTTAAAACTCAGTCTCTAGAATCTATTTGTCAATTTTATTTGATGTTGTCCAGTTGAGGAAGTGACACTATAGATCTTTTTTTTTTTTTTGAGGCAGAGTCTCCCTCTGTCTCCCAGACTGGAGTGCAGTGGCACGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACACTCGGCTAATTTTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCTATCTCCTGACCTCGTGATCCACCCCCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAGATCTTTATTTTTAAAGGTATCTTGGTTGAAAACGCTGAGGAATTTTTTCAGCTTTTAGTGTGCTTCCAATCTAAACTGTAAGCACCAAATGACCTCTATAAAATAAGACCTACAGATCCTGCTTATGCATTGGTTTGCTGGATGTAAGCCAAGGCCTTAGCATTTTAATGGCTGAGGTAATTTTTCAAAGGAATTTTTTTTTTTTCTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCGGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAATTGATTCCTGTGTCTCGGCCTCCCCAGTAGCTGGGATTCCACGCGCCTGCCACCACGCCGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGTTTTGCCATGTTGGTCAGGCTGGTCTTGAACTCCTAGCCTCAGGTTATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGAGTGCTGAGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAAAGGACTTGTGAAATCCTTTGAAGACCTTTGAAGGACTCTGAAGTCCTTCAAAGACCCTGTCTCAAAAAAAATACTTTGAGACAGGGTCTCGCTTCTGTCACCTAGGCTGGAGTGCAGTGACACGAACATGGCTCACTGCAGCCTTGACCTTCTGGGCTCAAGTGATTCTCCCACCTCGGGCTCCTGAGTAGCTGGGACCACAGGCATGTGCCACTGCACCAGGCTAATTAAAAAAAAATTTTTTTTTTTTTTGGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCGCCTGCCGCCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCAGACGATCTACCCTCCTCAGCCCCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCACGCCTGGCAAATTTTTAAAATATTTATAGGGACAGTGTTTCACCATGCTGCCCAGAATGGCCTTGAACTCCTGTGTTCAAACAGTCCTCCTGCCTTAGCCTCCCAAAGTCCTGGGATTACAGGAGTGAGCCAGCGTACCTGGCCTAGCTTGTGCTCTTAATCAGAGTATACCCATGGAGGTTGAAGTTAGATTCCAGATAAACGTCCAATTTGAGAATAAGCCAGTAATTTTTAAGTTGCCTCAAATGCTTTCTTATTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTCTCCTGCCTCAGCCTTCCAAGTAGCTAGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCCCCTGGCCTCCAAATGCTTTCTTTAGTCTTAAATGAAACATAATTAAAG 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CTAGTGTGTACTCTTTCTATTTCATCTGATATTCTATTCTGTAGATGAGGGTAGTGGTACTCAAGACTTTGCCAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAAAAACTTGGAGAATAAGAGATTAGGAGGAATGCAGAAAATTTGTAGTAAGGAAAGTATGAATTTTGAAAAGATAAATTGCTTGAGGGGAGGAAGCAGTATGGCCGTGCTGCCCTCTGCTGCTTTGCTTTGGAAGGAGCCCAGAGGTGTCATGTCTTCTGTGACTGTAAAGGTTCCAGGCAGTTCTGCCACATGTGGCTGCCGAGTACTTGAAATGCAGCTAGTGTGACTGAGAAACTGACTTTTTACTTTTATTTATATATTTAGGTTTTGAGACTGGGTCTGGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCACAATCTTGGCTCGTTACAACCTCTGCATCCTGGGCTCAAGCTGTCCTCTCACCTCAGCCTCCCAAGCTGGAACTAGAGGTGCACGCCACCACGCCCGGCAAATTTTTGTGTTGTTTTGTAGAGATGGGTCTCACTGTGTTTTCCAGTGCGGTCTAGAACTTCTGGACTCAAGCGATCCACCGACCTTGGCCTCCCAAAGATGTGAGCCACCATACCTGGCCTGACTTTTTACTTATAAATATTTTCCAATACTTTTTAATTAATCAATTTAAATTTAAATAGCCATATCTGGCTAGTAGCTCCTTTCTTGGATAAAAAAGATCTAAGATGCAAGATCCTTCCCGGAGTCACTGTTTGCAAGTTTCAAGTGAGGTTTAAATCAGTTTCACCACTGTTTGTATTCAGCCCTTGGATCTAAGTTCCGAGCTGCCTGTGGGCTGCCAGCTATTTTTTGCAGCCTAATTTTTCCAGTGATGGATGAATGTAAGACATCAATGTGTTTATTTTCTCATCAATATCTCCTGGAATTGCTTTCAGTTGCACTCATTTGCTGTATATAATTTCCTGGCAAAACTACTTACAGAATTTCTAAATTTGGTTTCTGTAAATCCATCTAAGTAAAATGGCCACCATCATGCCAAGCACTAAGGATTAAGCAATAAATAAAACAAAGCTCCTCAAGAAGTATTCATTCTAGAGGGAAATGACAGGTTAATAAATATGTAAAAATGTCATGTGGTGATAAGTGCTGTAAATAAAACCAAGTGACACAGAGTGTGTTTTACATTGAAGTCAGGGAAGACCTCTTTGAGAAGATGACATTTGATTCCAGAGAGCAGAATGTGTGAGGGAGTGAACCAAGCAGAGGTCTCAGGCAGAAGGAACAGTCAAGAGCAGGATTATGTTGTTGTTTTATTTATTGGAGCTTTCTTTTTTTTTTTTTTTTGGAGACAGAGGCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGCCGCAATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGCGATTCTCCAACCTCAGCCTCCTGAGTAGCTAGGACTACAGGTGCACGCCACCATGCCTGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCGTTGTTGCCCAGGCTGGTCTGTTGGAGCTTTGTTATAGTATACTTTACCATGATTCATTGAGAAGTTCTCTCCCACCCCACCTCGACCCCACTACCCCTGGCCAGTGTACTTTCAACTTGGTTGCCTCAAATTTTAATTTAAGGGTTGGGAGATAGGGTAGTGCTGCTAACATGAATCAGTTTTTTTTCCTTGGTGTCACTTCATTCAAATAACTGTGACACTGAGACTATTTTATTTTATTTTGCCTATTCTGCAGACATTGGGTTTGCCTATCACAGATGAACAAATCCAGGAGATGAAATCAAACCTGGAGAACATCGACTTCAAGATGGCAGCTGAGGAAGAGAAACGTTTACGACATGATGTGATGACTCACGTGCACACATTTGGCCACTGCTGTCCAAAAGCTGCAGGCATTATTCACCTTGGTGCTACTTCTTGCTATGTTGGAGACAATACTGTAGGCGCCTGTGTTGTTTATACTTAAAACTCAGTCTCTAGAATCTATTTGTCAATTTTATTTGATGTTGTCCAGTTGAGGAAGTGACACTATAGATCTTTTTTTTTTTTTTGAGGCAGAGTCTCCCTCTGTCTCCCAGACTGGAGTGCAGTGGCACGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACACTCGGCTAATTTTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCTATCTCCTGACCTCGTGATCCACCCCCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAGATCTTTATTTTTAAAGGTATCTTGGTTGAAAACGCTGAGGAATTTTTTCAGCTTTTAGTGTGCTTCCAATCTAAACTGTAAGCACCAAATGACCTCTATAAAATAAGACCTACAGATCCTGCTTATGCATTGGTTTGCTGGATGTAAGCCAAGGCCTTAGCATTTTAATGGCTGAGGTAATTTTTCAAAGGAATTTTTTTTTTTTCTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCGGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAATTGATTCCTGTGTCTCGGCCTCCCCAGTAGCTGGGATTCCACGCGCCTGCCACCACGCCGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGTTTTGCCATGTTGGTCAGGCTGGTCTTGAACTCCTAGCCTCAGGTTATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGAGTGCTGAGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAAAGGACTTGTGAAATCCTTTGAAGACCTTTGAAGGACTCTGAAGTCCTTCAAAGACCCTGTCTCAAAAAAAATACTTTGAGACAGGGTCTCGCTTCTGTCACCTAGGCTGGAGTGCAGTGACACGAACATGGCTCACTGCAGCCTTGACCTTCTGGGCTCAAGTGATTCTCCCACCTCGGGCTCCTGAGTAGCTGGGACCACAGGCATGTGCCACTGCACCAGGCTAATTAAAAAAAAATTTTTTTTTTTTTTGGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCGCCTGCCGCCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCAGACGATCTACCCTCCTCAGCCCCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCACGCCTGGCAAATTTTTAAAATATTTATAGGGACAGTGTTTCACCATGCTGCCCAGAATGGCCTTGAACTCCTGTGTTCAAACAGTCCTCCTGCCTTAGCCTCCCAAAGTCCTGGGATTACAGGAGTGAGCCAGCGTACCTGGCCTAGCTTGTGCTCTTAATCAGAGTATACCCATGGAGGTTGAAGTTAGATTCCAGATAAACGTCCAATTTGAGAATAAGCCAGTAATTTTTAAGTTGCCTCAAATGCTTTCTTATTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTCTCCTGCCTCAGCCTTCCAAGTAGCTAGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCCCCTGGCCTCCAAATGCTTTCTTTAGTCTTAAATGAAACATAATTAAAG 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Task1_train_28838 | Given this variant in gene ADSL (adenylosuccinate lyase) on Chromosome 22, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Adenylosuccinate lyase deficiency | ATTCTATTCTGTAGATGAGGGTAGTGGTACTCAAGACTTTGCCAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAAAAACTTGGAGAATAAGAGATTAGGAGGAATGCAGAAAATTTGTAGTAAGGAAAGTATGAATTTTGAAAAGATAAATTGCTTGAGGGGAGGAAGCAGTATGGCCGTGCTGCCCTCTGCTGCTTTGCTTTGGAAGGAGCCCAGAGGTGTCATGTCTTCTGTGACTGTAAAGGTTCCAGGCAGTTCTGCCACATGTGGCTGCCGAGTACTTGAAATGCAGCTAGTGTGACTGAGAAACTGACTTTTTACTTTTATTTATATATTTAGGTTTTGAGACTGGGTCTGGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCACAATCTTGGCTCGTTACAACCTCTGCATCCTGGGCTCAAGCTGTCCTCTCACCTCAGCCTCCCAAGCTGGAACTAGAGGTGCACGCCACCACGCCCGGCAAATTTTTGTGTTGTTTTGTAGAGATGGGTCTCACTGTGTTTTCCAGTGCGGTCTAGAACTTCTGGACTCAAGCGATCCACCGACCTTGGCCTCCCAAAGATGTGAGCCACCATACCTGGCCTGACTTTTTACTTATAAATATTTTCCAATACTTTTTAATTAATCAATTTAAATTTAAATAGCCATATCTGGCTAGTAGCTCCTTTCTTGGATAAAAAAGATCTAAGATGCAAGATCCTTCCCGGAGTCACTGTTTGCAAGTTTCAAGTGAGGTTTAAATCAGTTTCACCACTGTTTGTATTCAGCCCTTGGATCTAAGTTCCGAGCTGCCTGTGGGCTGCCAGCTATTTTTTGCAGCCTAATTTTTCCAGTGATGGATGAATGTAAGACATCAATGTGTTTATTTTCTCATCAATATCTCCTGGAATTGCTTTCAGTTGCACTCATTTGCTGTATATAATTTCCTGGCAAAACTACTTACAGAATTTCTAAATTTGGTTTCTGTAAATCCATCTAAGTAAAATGGCCACCATCATGCCAAGCACTAAGGATTAAGCAATAAATAAAACAAAGCTCCTCAAGAAGTATTCATTCTAGAGGGAAATGACAGGTTAATAAATATGTAAAAATGTCATGTGGTGATAAGTGCTGTAAATAAAACCAAGTGACACAGAGTGTGTTTTACATTGAAGTCAGGGAAGACCTCTTTGAGAAGATGACATTTGATTCCAGAGAGCAGAATGTGTGAGGGAGTGAACCAAGCAGAGGTCTCAGGCAGAAGGAACAGTCAAGAGCAGGATTATGTTGTTGTTTTATTTATTGGAGCTTTCTTTTTTTTTTTTTTTTGGAGACAGAGGCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGCCGCAATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGCGATTCTCCAACCTCAGCCTCCTGAGTAGCTAGGACTACAGGTGCACGCCACCATGCCTGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCGTTGTTGCCCAGGCTGGTCTGTTGGAGCTTTGTTATAGTATACTTTACCATGATTCATTGAGAAGTTCTCTCCCACCCCACCTCGACCCCACTACCCCTGGCCAGTGTACTTTCAACTTGGTTGCCTCAAATTTTAATTTAAGGGTTGGGAGATAGGGTAGTGCTGCTAACATGAATCAGTTTTTTTTCCTTGGTGTCACTTCATTCAAATAACTGTGACACTGAGACTATTTTATTTTATTTTGCCTATTCTGCAGACATTGGGTTTGCCTATCACAGATGAACAAATCCAGGAGATGAAATCAAACCTGGAGAACATCGACTTCAAGATGGCAGCTGAGGAAGAGAAACGTTTACGACATGATGTGATGGCTCACGTGCACACATTTGGCCACTGCTGTCCAAAAGCTGCAGGCATTATTCACCTTGGTGCTACTTCTTGCTATGTTGGAGACAATACTGTAGGCGCCTGTGTTGTTTATACTTAAAACTCAGTCTCTAGAATCTATTTGTCAATTTTATTTGATGTTGTCCAGTTGAGGAAGTGACACTATAGATCTTTTTTTTTTTTTTGAGGCAGAGTCTCCCTCTGTCTCCCAGACTGGAGTGCAGTGGCACGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACACTCGGCTAATTTTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCTATCTCCTGACCTCGTGATCCACCCCCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAGATCTTTATTTTTAAAGGTATCTTGGTTGAAAACGCTGAGGAATTTTTTCAGCTTTTAGTGTGCTTCCAATCTAAACTGTAAGCACCAAATGACCTCTATAAAATAAGACCTACAGATCCTGCTTATGCATTGGTTTGCTGGATGTAAGCCAAGGCCTTAGCATTTTAATGGCTGAGGTAATTTTTCAAAGGAATTTTTTTTTTTTCTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCGGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAATTGATTCCTGTGTCTCGGCCTCCCCAGTAGCTGGGATTCCACGCGCCTGCCACCACGCCGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGTTTTGCCATGTTGGTCAGGCTGGTCTTGAACTCCTAGCCTCAGGTTATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGAGTGCTGAGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAAAGGACTTGTGAAATCCTTTGAAGACCTTTGAAGGACTCTGAAGTCCTTCAAAGACCCTGTCTCAAAAAAAATACTTTGAGACAGGGTCTCGCTTCTGTCACCTAGGCTGGAGTGCAGTGACACGAACATGGCTCACTGCAGCCTTGACCTTCTGGGCTCAAGTGATTCTCCCACCTCGGGCTCCTGAGTAGCTGGGACCACAGGCATGTGCCACTGCACCAGGCTAATTAAAAAAAAATTTTTTTTTTTTTTGGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCGCCTGCCGCCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCAGACGATCTACCCTCCTCAGCCCCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCACGCCTGGCAAATTTTTAAAATATTTATAGGGACAGTGTTTCACCATGCTGCCCAGAATGGCCTTGAACTCCTGTGTTCAAACAGTCCTCCTGCCTTAGCCTCCCAAAGTCCTGGGATTACAGGAGTGAGCCAGCGTACCTGGCCTAGCTTGTGCTCTTAATCAGAGTATACCCATGGAGGTTGAAGTTAGATTCCAGATAAACGTCCAATTTGAGAATAAGCCAGTAATTTTTAAGTTGCCTCAAATGCTTTCTTATTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTCTCCTGCCTCAGCCTTCCAAGTAGCTAGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCCCCTGGCCTCCAAATGCTTTCTTTAGTCTTAAATGAAACATAATTAAAGGCATCTTTGTGTAACTGGCGAGTCAGATAG | ATTCTATTCTGTAGATGAGGGTAGTGGTACTCAAGACTTTGCCAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAAAAACTTGGAGAATAAGAGATTAGGAGGAATGCAGAAAATTTGTAGTAAGGAAAGTATGAATTTTGAAAAGATAAATTGCTTGAGGGGAGGAAGCAGTATGGCCGTGCTGCCCTCTGCTGCTTTGCTTTGGAAGGAGCCCAGAGGTGTCATGTCTTCTGTGACTGTAAAGGTTCCAGGCAGTTCTGCCACATGTGGCTGCCGAGTACTTGAAATGCAGCTAGTGTGACTGAGAAACTGACTTTTTACTTTTATTTATATATTTAGGTTTTGAGACTGGGTCTGGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCACAATCTTGGCTCGTTACAACCTCTGCATCCTGGGCTCAAGCTGTCCTCTCACCTCAGCCTCCCAAGCTGGAACTAGAGGTGCACGCCACCACGCCCGGCAAATTTTTGTGTTGTTTTGTAGAGATGGGTCTCACTGTGTTTTCCAGTGCGGTCTAGAACTTCTGGACTCAAGCGATCCACCGACCTTGGCCTCCCAAAGATGTGAGCCACCATACCTGGCCTGACTTTTTACTTATAAATATTTTCCAATACTTTTTAATTAATCAATTTAAATTTAAATAGCCATATCTGGCTAGTAGCTCCTTTCTTGGATAAAAAAGATCTAAGATGCAAGATCCTTCCCGGAGTCACTGTTTGCAAGTTTCAAGTGAGGTTTAAATCAGTTTCACCACTGTTTGTATTCAGCCCTTGGATCTAAGTTCCGAGCTGCCTGTGGGCTGCCAGCTATTTTTTGCAGCCTAATTTTTCCAGTGATGGATGAATGTAAGACATCAATGTGTTTATTTTCTCATCAATATCTCCTGGAATTGCTTTCAGTTGCACTCATTTGCTGTATATAATTTCCTGGCAAAACTACTTACAGAATTTCTAAATTTGGTTTCTGTAAATCCATCTAAGTAAAATGGCCACCATCATGCCAAGCACTAAGGATTAAGCAATAAATAAAACAAAGCTCCTCAAGAAGTATTCATTCTAGAGGGAAATGACAGGTTAATAAATATGTAAAAATGTCATGTGGTGATAAGTGCTGTAAATAAAACCAAGTGACACAGAGTGTGTTTTACATTGAAGTCAGGGAAGACCTCTTTGAGAAGATGACATTTGATTCCAGAGAGCAGAATGTGTGAGGGAGTGAACCAAGCAGAGGTCTCAGGCAGAAGGAACAGTCAAGAGCAGGATTATGTTGTTGTTTTATTTATTGGAGCTTTCTTTTTTTTTTTTTTTTGGAGACAGAGGCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGCCGCAATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGCGATTCTCCAACCTCAGCCTCCTGAGTAGCTAGGACTACAGGTGCACGCCACCATGCCTGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCGTTGTTGCCCAGGCTGGTCTGTTGGAGCTTTGTTATAGTATACTTTACCATGATTCATTGAGAAGTTCTCTCCCACCCCACCTCGACCCCACTACCCCTGGCCAGTGTACTTTCAACTTGGTTGCCTCAAATTTTAATTTAAGGGTTGGGAGATAGGGTAGTGCTGCTAACATGAATCAGTTTTTTTTCCTTGGTGTCACTTCATTCAAATAACTGTGACACTGAGACTATTTTATTTTATTTTGCCTATTCTGCAGACATTGGGTTTGCCTATCACAGATGAACAAATCCAGGAGATGAAATCAAACCTGGAGAACATCGACTTCAAGATGGCAGCTGAGGAAGAGAAACGTTTACGACATGATGTGATGGCTCACGTGCACACATTTGGCCACTGCTGTGCAAAAGCTGCAGGCATTATTCACCTTGGTGCTACTTCTTGCTATGTTGGAGACAATACTGTAGGCGCCTGTGTTGTTTATACTTAAAACTCAGTCTCTAGAATCTATTTGTCAATTTTATTTGATGTTGTCCAGTTGAGGAAGTGACACTATAGATCTTTTTTTTTTTTTTGAGGCAGAGTCTCCCTCTGTCTCCCAGACTGGAGTGCAGTGGCACGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACACTCGGCTAATTTTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCTATCTCCTGACCTCGTGATCCACCCCCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAGATCTTTATTTTTAAAGGTATCTTGGTTGAAAACGCTGAGGAATTTTTTCAGCTTTTAGTGTGCTTCCAATCTAAACTGTAAGCACCAAATGACCTCTATAAAATAAGACCTACAGATCCTGCTTATGCATTGGTTTGCTGGATGTAAGCCAAGGCCTTAGCATTTTAATGGCTGAGGTAATTTTTCAAAGGAATTTTTTTTTTTTCTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCGGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAATTGATTCCTGTGTCTCGGCCTCCCCAGTAGCTGGGATTCCACGCGCCTGCCACCACGCCGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGTTTTGCCATGTTGGTCAGGCTGGTCTTGAACTCCTAGCCTCAGGTTATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGAGTGCTGAGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAAAGGACTTGTGAAATCCTTTGAAGACCTTTGAAGGACTCTGAAGTCCTTCAAAGACCCTGTCTCAAAAAAAATACTTTGAGACAGGGTCTCGCTTCTGTCACCTAGGCTGGAGTGCAGTGACACGAACATGGCTCACTGCAGCCTTGACCTTCTGGGCTCAAGTGATTCTCCCACCTCGGGCTCCTGAGTAGCTGGGACCACAGGCATGTGCCACTGCACCAGGCTAATTAAAAAAAAATTTTTTTTTTTTTTGGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCGCCTGCCGCCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCAGACGATCTACCCTCCTCAGCCCCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCACGCCTGGCAAATTTTTAAAATATTTATAGGGACAGTGTTTCACCATGCTGCCCAGAATGGCCTTGAACTCCTGTGTTCAAACAGTCCTCCTGCCTTAGCCTCCCAAAGTCCTGGGATTACAGGAGTGAGCCAGCGTACCTGGCCTAGCTTGTGCTCTTAATCAGAGTATACCCATGGAGGTTGAAGTTAGATTCCAGATAAACGTCCAATTTGAGAATAAGCCAGTAATTTTTAAGTTGCCTCAAATGCTTTCTTATTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTCTCCTGCCTCAGCCTTCCAAGTAGCTAGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCCCCTGGCCTCCAAATGCTTTCTTTAGTCTTAAATGAAACATAATTAAAGGCATCTTTGTGTAACTGGCGAGTCAGATAG 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Task1_train_28839 | This alteration occurs within gene ADSL (adenylosuccinate lyase) located on Chromosome 22. Is it associated with a disease or is it a benign variant? | Pathogenic; Severe global developmental delay | CAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAAAAACTTGGAGAATAAGAGATTAGGAGGAATGCAGAAAATTTGTAGTAAGGAAAGTATGAATTTTGAAAAGATAAATTGCTTGAGGGGAGGAAGCAGTATGGCCGTGCTGCCCTCTGCTGCTTTGCTTTGGAAGGAGCCCAGAGGTGTCATGTCTTCTGTGACTGTAAAGGTTCCAGGCAGTTCTGCCACATGTGGCTGCCGAGTACTTGAAATGCAGCTAGTGTGACTGAGAAACTGACTTTTTACTTTTATTTATATATTTAGGTTTTGAGACTGGGTCTGGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCACAATCTTGGCTCGTTACAACCTCTGCATCCTGGGCTCAAGCTGTCCTCTCACCTCAGCCTCCCAAGCTGGAACTAGAGGTGCACGCCACCACGCCCGGCAAATTTTTGTGTTGTTTTGTAGAGATGGGTCTCACTGTGTTTTCCAGTGCGGTCTAGAACTTCTGGACTCAAGCGATCCACCGACCTTGGCCTCCCAAAGATGTGAGCCACCATACCTGGCCTGACTTTTTACTTATAAATATTTTCCAATACTTTTTAATTAATCAATTTAAATTTAAATAGCCATATCTGGCTAGTAGCTCCTTTCTTGGATAAAAAAGATCTAAGATGCAAGATCCTTCCCGGAGTCACTGTTTGCAAGTTTCAAGTGAGGTTTAAATCAGTTTCACCACTGTTTGTATTCAGCCCTTGGATCTAAGTTCCGAGCTGCCTGTGGGCTGCCAGCTATTTTTTGCAGCCTAATTTTTCCAGTGATGGATGAATGTAAGACATCAATGTGTTTATTTTCTCATCAATATCTCCTGGAATTGCTTTCAGTTGCACTCATTTGCTGTATATAATTTCCTGGCAAAACTACTTACAGAATTTCTAAATTTGGTTTCTGTAAATCCATCTAAGTAAAATGGCCACCATCATGCCAAGCACTAAGGATTAAGCAATAAATAAAACAAAGCTCCTCAAGAAGTATTCATTCTAGAGGGAAATGACAGGTTAATAAATATGTAAAAATGTCATGTGGTGATAAGTGCTGTAAATAAAACCAAGTGACACAGAGTGTGTTTTACATTGAAGTCAGGGAAGACCTCTTTGAGAAGATGACATTTGATTCCAGAGAGCAGAATGTGTGAGGGAGTGAACCAAGCAGAGGTCTCAGGCAGAAGGAACAGTCAAGAGCAGGATTATGTTGTTGTTTTATTTATTGGAGCTTTCTTTTTTTTTTTTTTTTGGAGACAGAGGCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGCCGCAATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGCGATTCTCCAACCTCAGCCTCCTGAGTAGCTAGGACTACAGGTGCACGCCACCATGCCTGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCGTTGTTGCCCAGGCTGGTCTGTTGGAGCTTTGTTATAGTATACTTTACCATGATTCATTGAGAAGTTCTCTCCCACCCCACCTCGACCCCACTACCCCTGGCCAGTGTACTTTCAACTTGGTTGCCTCAAATTTTAATTTAAGGGTTGGGAGATAGGGTAGTGCTGCTAACATGAATCAGTTTTTTTTCCTTGGTGTCACTTCATTCAAATAACTGTGACACTGAGACTATTTTATTTTATTTTGCCTATTCTGCAGACATTGGGTTTGCCTATCACAGATGAACAAATCCAGGAGATGAAATCAAACCTGGAGAACATCGACTTCAAGATGGCAGCTGAGGAAGAGAAACGTTTACGACATGATGTGATGGCTCACGTGCACACATTTGGCCACTGCTGTCCAAAAGCTGCAGGCATTATTCACCTTGGTGCTACTTCTTGCTATGTTGGAGACAATACTGTAGGCGCCTGTGTTGTTTATACTTAAAACTCAGTCTCTAGAATCTATTTGTCAATTTTATTTGATGTTGTCCAGTTGAGGAAGTGACACTATAGATCTTTTTTTTTTTTTTGAGGCAGAGTCTCCCTCTGTCTCCCAGACTGGAGTGCAGTGGCACGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACACTCGGCTAATTTTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCTATCTCCTGACCTCGTGATCCACCCCCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAGATCTTTATTTTTAAAGGTATCTTGGTTGAAAACGCTGAGGAATTTTTTCAGCTTTTAGTGTGCTTCCAATCTAAACTGTAAGCACCAAATGACCTCTATAAAATAAGACCTACAGATCCTGCTTATGCATTGGTTTGCTGGATGTAAGCCAAGGCCTTAGCATTTTAATGGCTGAGGTAATTTTTCAAAGGAATTTTTTTTTTTTCTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCGGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAATTGATTCCTGTGTCTCGGCCTCCCCAGTAGCTGGGATTCCACGCGCCTGCCACCACGCCGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGTTTTGCCATGTTGGTCAGGCTGGTCTTGAACTCCTAGCCTCAGGTTATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGAGTGCTGAGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAAAGGACTTGTGAAATCCTTTGAAGACCTTTGAAGGACTCTGAAGTCCTTCAAAGACCCTGTCTCAAAAAAAATACTTTGAGACAGGGTCTCGCTTCTGTCACCTAGGCTGGAGTGCAGTGACACGAACATGGCTCACTGCAGCCTTGACCTTCTGGGCTCAAGTGATTCTCCCACCTCGGGCTCCTGAGTAGCTGGGACCACAGGCATGTGCCACTGCACCAGGCTAATTAAAAAAAAATTTTTTTTTTTTTTGGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCGCCTGCCGCCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCAGACGATCTACCCTCCTCAGCCCCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCACGCCTGGCAAATTTTTAAAATATTTATAGGGACAGTGTTTCACCATGCTGCCCAGAATGGCCTTGAACTCCTGTGTTCAAACAGTCCTCCTGCCTTAGCCTCCCAAAGTCCTGGGATTACAGGAGTGAGCCAGCGTACCTGGCCTAGCTTGTGCTCTTAATCAGAGTATACCCATGGAGGTTGAAGTTAGATTCCAGATAAACGTCCAATTTGAGAATAAGCCAGTAATTTTTAAGTTGCCTCAAATGCTTTCTTATTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTCTCCTGCCTCAGCCTTCCAAGTAGCTAGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCCCCTGGCCTCCAAATGCTTTCTTTAGTCTTAAATGAAACATAATTAAAGGCATCTTTGTGTAACTGGCGAGTCAGATAGTGGGAGAAGAACAGTCTTCTTACTTGGAAAATCCTTTAAAAA 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CAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAAAAACTTGGAGAATAAGAGATTAGGAGGAATGCAGAAAATTTGTAGTAAGGAAAGTATGAATTTTGAAAAGATAAATTGCTTGAGGGGAGGAAGCAGTATGGCCGTGCTGCCCTCTGCTGCTTTGCTTTGGAAGGAGCCCAGAGGTGTCATGTCTTCTGTGACTGTAAAGGTTCCAGGCAGTTCTGCCACATGTGGCTGCCGAGTACTTGAAATGCAGCTAGTGTGACTGAGAAACTGACTTTTTACTTTTATTTATATATTTAGGTTTTGAGACTGGGTCTGGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCACAATCTTGGCTCGTTACAACCTCTGCATCCTGGGCTCAAGCTGTCCTCTCACCTCAGCCTCCCAAGCTGGAACTAGAGGTGCACGCCACCACGCCCGGCAAATTTTTGTGTTGTTTTGTAGAGATGGGTCTCACTGTGTTTTCCAGTGCGGTCTAGAACTTCTGGACTCAAGCGATCCACCGACCTTGGCCTCCCAAAGATGTGAGCCACCATACCTGGCCTGACTTTTTACTTATAAATATTTTCCAATACTTTTTAATTAATCAATTTAAATTTAAATAGCCATATCTGGCTAGTAGCTCCTTTCTTGGATAAAAAAGATCTAAGATGCAAGATCCTTCCCGGAGTCACTGTTTGCAAGTTTCAAGTGAGGTTTAAATCAGTTTCACCACTGTTTGTATTCAGCCCTTGGATCTAAGTTCCGAGCTGCCTGTGGGCTGCCAGCTATTTTTTGCAGCCTAATTTTTCCAGTGATGGATGAATGTAAGACATCAATGTGTTTATTTTCTCATCAATATCTCCTGGAATTGCTTTCAGTTGCACTCATTTGCTGTATATAATTTCCTGGCAAAACTACTTACAGAATTTCTAAATTTGGTTTCTGTAAATCCATCTAAGTAAAATGGCCACCATCATGCCAAGCACTAAGGATTAAGCAATAAATAAAACAAAGCTCCTCAAGAAGTATTCATTCTAGAGGGAAATGACAGGTTAATAAATATGTAAAAATGTCATGTGGTGATAAGTGCTGTAAATAAAACCAAGTGACACAGAGTGTGTTTTACATTGAAGTCAGGGAAGACCTCTTTGAGAAGATGACATTTGATTCCAGAGAGCAGAATGTGTGAGGGAGTGAACCAAGCAGAGGTCTCAGGCAGAAGGAACAGTCAAGAGCAGGATTATGTTGTTGTTTTATTTATTGGAGCTTTCTTTTTTTTTTTTTTTTGGAGACAGAGGCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGCCGCAATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGCGATTCTCCAACCTCAGCCTCCTGAGTAGCTAGGACTACAGGTGCACGCCACCATGCCTGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCGTTGTTGCCCAGGCTGGTCTGTTGGAGCTTTGTTATAGTATACTTTACCATGATTCATTGAGAAGTTCTCTCCCACCCCACCTCGACCCCACTACCCCTGGCCAGTGTACTTTCAACTTGGTTGCCTCAAATTTTAATTTAAGGGTTGGGAGATAGGGTAGTGCTGCTAACATGAATCAGTTTTTTTTCCTTGGTGTCACTTCATTCAAATAACTGTGACACTGAGACTATTTTATTTTATTTTGCCTATTCTGCAGACATTGGGTTTGCCTATCACAGATGAACAAATCCAGGAGATGAAATCAAACCTGGAGAACATCGACTTCAAGATGGCAGCTGAGGAAGAGAAACGTTTACGACATGATGTGATGGCTCACGTGCACACATTTGGCCACTGCTGTCCAAAAGCTGCAGGCATTATTCACCTTGGTGCTACTTCTTGCCATGTTGGAGACAATACTGTAGGCGCCTGTGTTGTTTATACTTAAAACTCAGTCTCTAGAATCTATTTGTCAATTTTATTTGATGTTGTCCAGTTGAGGAAGTGACACTATAGATCTTTTTTTTTTTTTTGAGGCAGAGTCTCCCTCTGTCTCCCAGACTGGAGTGCAGTGGCACGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACACTCGGCTAATTTTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCTATCTCCTGACCTCGTGATCCACCCCCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAGATCTTTATTTTTAAAGGTATCTTGGTTGAAAACGCTGAGGAATTTTTTCAGCTTTTAGTGTGCTTCCAATCTAAACTGTAAGCACCAAATGACCTCTATAAAATAAGACCTACAGATCCTGCTTATGCATTGGTTTGCTGGATGTAAGCCAAGGCCTTAGCATTTTAATGGCTGAGGTAATTTTTCAAAGGAATTTTTTTTTTTTCTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCGGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAATTGATTCCTGTGTCTCGGCCTCCCCAGTAGCTGGGATTCCACGCGCCTGCCACCACGCCGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGTTTTGCCATGTTGGTCAGGCTGGTCTTGAACTCCTAGCCTCAGGTTATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGAGTGCTGAGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAAAGGACTTGTGAAATCCTTTGAAGACCTTTGAAGGACTCTGAAGTCCTTCAAAGACCCTGTCTCAAAAAAAATACTTTGAGACAGGGTCTCGCTTCTGTCACCTAGGCTGGAGTGCAGTGACACGAACATGGCTCACTGCAGCCTTGACCTTCTGGGCTCAAGTGATTCTCCCACCTCGGGCTCCTGAGTAGCTGGGACCACAGGCATGTGCCACTGCACCAGGCTAATTAAAAAAAAATTTTTTTTTTTTTTGGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCGCCTGCCGCCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCAGACGATCTACCCTCCTCAGCCCCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCACGCCTGGCAAATTTTTAAAATATTTATAGGGACAGTGTTTCACCATGCTGCCCAGAATGGCCTTGAACTCCTGTGTTCAAACAGTCCTCCTGCCTTAGCCTCCCAAAGTCCTGGGATTACAGGAGTGAGCCAGCGTACCTGGCCTAGCTTGTGCTCTTAATCAGAGTATACCCATGGAGGTTGAAGTTAGATTCCAGATAAACGTCCAATTTGAGAATAAGCCAGTAATTTTTAAGTTGCCTCAAATGCTTTCTTATTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTCTCCTGCCTCAGCCTTCCAAGTAGCTAGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCCCCTGGCCTCCAAATGCTTTCTTTAGTCTTAAATGAAACATAATTAAAGGCATCTTTGTGTAACTGGCGAGTCAGATAGTGGGAGAAGAACAGTCTTCTTACTTGGAAAATCCTTTAAAAA 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Task1_train_28840 | This mutation is located in gene ADSL (adenylosuccinate lyase) on Chromosome 22. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Inability to walk | CAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAAAAACTTGGAGAATAAGAGATTAGGAGGAATGCAGAAAATTTGTAGTAAGGAAAGTATGAATTTTGAAAAGATAAATTGCTTGAGGGGAGGAAGCAGTATGGCCGTGCTGCCCTCTGCTGCTTTGCTTTGGAAGGAGCCCAGAGGTGTCATGTCTTCTGTGACTGTAAAGGTTCCAGGCAGTTCTGCCACATGTGGCTGCCGAGTACTTGAAATGCAGCTAGTGTGACTGAGAAACTGACTTTTTACTTTTATTTATATATTTAGGTTTTGAGACTGGGTCTGGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCACAATCTTGGCTCGTTACAACCTCTGCATCCTGGGCTCAAGCTGTCCTCTCACCTCAGCCTCCCAAGCTGGAACTAGAGGTGCACGCCACCACGCCCGGCAAATTTTTGTGTTGTTTTGTAGAGATGGGTCTCACTGTGTTTTCCAGTGCGGTCTAGAACTTCTGGACTCAAGCGATCCACCGACCTTGGCCTCCCAAAGATGTGAGCCACCATACCTGGCCTGACTTTTTACTTATAAATATTTTCCAATACTTTTTAATTAATCAATTTAAATTTAAATAGCCATATCTGGCTAGTAGCTCCTTTCTTGGATAAAAAAGATCTAAGATGCAAGATCCTTCCCGGAGTCACTGTTTGCAAGTTTCAAGTGAGGTTTAAATCAGTTTCACCACTGTTTGTATTCAGCCCTTGGATCTAAGTTCCGAGCTGCCTGTGGGCTGCCAGCTATTTTTTGCAGCCTAATTTTTCCAGTGATGGATGAATGTAAGACATCAATGTGTTTATTTTCTCATCAATATCTCCTGGAATTGCTTTCAGTTGCACTCATTTGCTGTATATAATTTCCTGGCAAAACTACTTACAGAATTTCTAAATTTGGTTTCTGTAAATCCATCTAAGTAAAATGGCCACCATCATGCCAAGCACTAAGGATTAAGCAATAAATAAAACAAAGCTCCTCAAGAAGTATTCATTCTAGAGGGAAATGACAGGTTAATAAATATGTAAAAATGTCATGTGGTGATAAGTGCTGTAAATAAAACCAAGTGACACAGAGTGTGTTTTACATTGAAGTCAGGGAAGACCTCTTTGAGAAGATGACATTTGATTCCAGAGAGCAGAATGTGTGAGGGAGTGAACCAAGCAGAGGTCTCAGGCAGAAGGAACAGTCAAGAGCAGGATTATGTTGTTGTTTTATTTATTGGAGCTTTCTTTTTTTTTTTTTTTTGGAGACAGAGGCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGCCGCAATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGCGATTCTCCAACCTCAGCCTCCTGAGTAGCTAGGACTACAGGTGCACGCCACCATGCCTGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCGTTGTTGCCCAGGCTGGTCTGTTGGAGCTTTGTTATAGTATACTTTACCATGATTCATTGAGAAGTTCTCTCCCACCCCACCTCGACCCCACTACCCCTGGCCAGTGTACTTTCAACTTGGTTGCCTCAAATTTTAATTTAAGGGTTGGGAGATAGGGTAGTGCTGCTAACATGAATCAGTTTTTTTTCCTTGGTGTCACTTCATTCAAATAACTGTGACACTGAGACTATTTTATTTTATTTTGCCTATTCTGCAGACATTGGGTTTGCCTATCACAGATGAACAAATCCAGGAGATGAAATCAAACCTGGAGAACATCGACTTCAAGATGGCAGCTGAGGAAGAGAAACGTTTACGACATGATGTGATGGCTCACGTGCACACATTTGGCCACTGCTGTCCAAAAGCTGCAGGCATTATTCACCTTGGTGCTACTTCTTGCTATGTTGGAGACAATACTGTAGGCGCCTGTGTTGTTTATACTTAAAACTCAGTCTCTAGAATCTATTTGTCAATTTTATTTGATGTTGTCCAGTTGAGGAAGTGACACTATAGATCTTTTTTTTTTTTTTGAGGCAGAGTCTCCCTCTGTCTCCCAGACTGGAGTGCAGTGGCACGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACACTCGGCTAATTTTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCTATCTCCTGACCTCGTGATCCACCCCCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAGATCTTTATTTTTAAAGGTATCTTGGTTGAAAACGCTGAGGAATTTTTTCAGCTTTTAGTGTGCTTCCAATCTAAACTGTAAGCACCAAATGACCTCTATAAAATAAGACCTACAGATCCTGCTTATGCATTGGTTTGCTGGATGTAAGCCAAGGCCTTAGCATTTTAATGGCTGAGGTAATTTTTCAAAGGAATTTTTTTTTTTTCTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCGGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAATTGATTCCTGTGTCTCGGCCTCCCCAGTAGCTGGGATTCCACGCGCCTGCCACCACGCCGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGTTTTGCCATGTTGGTCAGGCTGGTCTTGAACTCCTAGCCTCAGGTTATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGAGTGCTGAGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAAAGGACTTGTGAAATCCTTTGAAGACCTTTGAAGGACTCTGAAGTCCTTCAAAGACCCTGTCTCAAAAAAAATACTTTGAGACAGGGTCTCGCTTCTGTCACCTAGGCTGGAGTGCAGTGACACGAACATGGCTCACTGCAGCCTTGACCTTCTGGGCTCAAGTGATTCTCCCACCTCGGGCTCCTGAGTAGCTGGGACCACAGGCATGTGCCACTGCACCAGGCTAATTAAAAAAAAATTTTTTTTTTTTTTGGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCGCCTGCCGCCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCAGACGATCTACCCTCCTCAGCCCCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCACGCCTGGCAAATTTTTAAAATATTTATAGGGACAGTGTTTCACCATGCTGCCCAGAATGGCCTTGAACTCCTGTGTTCAAACAGTCCTCCTGCCTTAGCCTCCCAAAGTCCTGGGATTACAGGAGTGAGCCAGCGTACCTGGCCTAGCTTGTGCTCTTAATCAGAGTATACCCATGGAGGTTGAAGTTAGATTCCAGATAAACGTCCAATTTGAGAATAAGCCAGTAATTTTTAAGTTGCCTCAAATGCTTTCTTATTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTCTCCTGCCTCAGCCTTCCAAGTAGCTAGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCCCCTGGCCTCCAAATGCTTTCTTTAGTCTTAAATGAAACATAATTAAAGGCATCTTTGTGTAACTGGCGAGTCAGATAGTGGGAGAAGAACAGTCTTCTTACTTGGAAAATCCTTTAAAAA 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CAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAAAAACTTGGAGAATAAGAGATTAGGAGGAATGCAGAAAATTTGTAGTAAGGAAAGTATGAATTTTGAAAAGATAAATTGCTTGAGGGGAGGAAGCAGTATGGCCGTGCTGCCCTCTGCTGCTTTGCTTTGGAAGGAGCCCAGAGGTGTCATGTCTTCTGTGACTGTAAAGGTTCCAGGCAGTTCTGCCACATGTGGCTGCCGAGTACTTGAAATGCAGCTAGTGTGACTGAGAAACTGACTTTTTACTTTTATTTATATATTTAGGTTTTGAGACTGGGTCTGGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCACAATCTTGGCTCGTTACAACCTCTGCATCCTGGGCTCAAGCTGTCCTCTCACCTCAGCCTCCCAAGCTGGAACTAGAGGTGCACGCCACCACGCCCGGCAAATTTTTGTGTTGTTTTGTAGAGATGGGTCTCACTGTGTTTTCCAGTGCGGTCTAGAACTTCTGGACTCAAGCGATCCACCGACCTTGGCCTCCCAAAGATGTGAGCCACCATACCTGGCCTGACTTTTTACTTATAAATATTTTCCAATACTTTTTAATTAATCAATTTAAATTTAAATAGCCATATCTGGCTAGTAGCTCCTTTCTTGGATAAAAAAGATCTAAGATGCAAGATCCTTCCCGGAGTCACTGTTTGCAAGTTTCAAGTGAGGTTTAAATCAGTTTCACCACTGTTTGTATTCAGCCCTTGGATCTAAGTTCCGAGCTGCCTGTGGGCTGCCAGCTATTTTTTGCAGCCTAATTTTTCCAGTGATGGATGAATGTAAGACATCAATGTGTTTATTTTCTCATCAATATCTCCTGGAATTGCTTTCAGTTGCACTCATTTGCTGTATATAATTTCCTGGCAAAACTACTTACAGAATTTCTAAATTTGGTTTCTGTAAATCCATCTAAGTAAAATGGCCACCATCATGCCAAGCACTAAGGATTAAGCAATAAATAAAACAAAGCTCCTCAAGAAGTATTCATTCTAGAGGGAAATGACAGGTTAATAAATATGTAAAAATGTCATGTGGTGATAAGTGCTGTAAATAAAACCAAGTGACACAGAGTGTGTTTTACATTGAAGTCAGGGAAGACCTCTTTGAGAAGATGACATTTGATTCCAGAGAGCAGAATGTGTGAGGGAGTGAACCAAGCAGAGGTCTCAGGCAGAAGGAACAGTCAAGAGCAGGATTATGTTGTTGTTTTATTTATTGGAGCTTTCTTTTTTTTTTTTTTTTGGAGACAGAGGCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGCCGCAATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGCGATTCTCCAACCTCAGCCTCCTGAGTAGCTAGGACTACAGGTGCACGCCACCATGCCTGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCGTTGTTGCCCAGGCTGGTCTGTTGGAGCTTTGTTATAGTATACTTTACCATGATTCATTGAGAAGTTCTCTCCCACCCCACCTCGACCCCACTACCCCTGGCCAGTGTACTTTCAACTTGGTTGCCTCAAATTTTAATTTAAGGGTTGGGAGATAGGGTAGTGCTGCTAACATGAATCAGTTTTTTTTCCTTGGTGTCACTTCATTCAAATAACTGTGACACTGAGACTATTTTATTTTATTTTGCCTATTCTGCAGACATTGGGTTTGCCTATCACAGATGAACAAATCCAGGAGATGAAATCAAACCTGGAGAACATCGACTTCAAGATGGCAGCTGAGGAAGAGAAACGTTTACGACATGATGTGATGGCTCACGTGCACACATTTGGCCACTGCTGTCCAAAAGCTGCAGGCATTATTCACCTTGGTGCTACTTCTTGCCATGTTGGAGACAATACTGTAGGCGCCTGTGTTGTTTATACTTAAAACTCAGTCTCTAGAATCTATTTGTCAATTTTATTTGATGTTGTCCAGTTGAGGAAGTGACACTATAGATCTTTTTTTTTTTTTTGAGGCAGAGTCTCCCTCTGTCTCCCAGACTGGAGTGCAGTGGCACGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACACTCGGCTAATTTTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCTATCTCCTGACCTCGTGATCCACCCCCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAGATCTTTATTTTTAAAGGTATCTTGGTTGAAAACGCTGAGGAATTTTTTCAGCTTTTAGTGTGCTTCCAATCTAAACTGTAAGCACCAAATGACCTCTATAAAATAAGACCTACAGATCCTGCTTATGCATTGGTTTGCTGGATGTAAGCCAAGGCCTTAGCATTTTAATGGCTGAGGTAATTTTTCAAAGGAATTTTTTTTTTTTCTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCGGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAATTGATTCCTGTGTCTCGGCCTCCCCAGTAGCTGGGATTCCACGCGCCTGCCACCACGCCGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGTTTTGCCATGTTGGTCAGGCTGGTCTTGAACTCCTAGCCTCAGGTTATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGAGTGCTGAGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAAAGGACTTGTGAAATCCTTTGAAGACCTTTGAAGGACTCTGAAGTCCTTCAAAGACCCTGTCTCAAAAAAAATACTTTGAGACAGGGTCTCGCTTCTGTCACCTAGGCTGGAGTGCAGTGACACGAACATGGCTCACTGCAGCCTTGACCTTCTGGGCTCAAGTGATTCTCCCACCTCGGGCTCCTGAGTAGCTGGGACCACAGGCATGTGCCACTGCACCAGGCTAATTAAAAAAAAATTTTTTTTTTTTTTGGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCGCCTGCCGCCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCAGACGATCTACCCTCCTCAGCCCCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCACGCCTGGCAAATTTTTAAAATATTTATAGGGACAGTGTTTCACCATGCTGCCCAGAATGGCCTTGAACTCCTGTGTTCAAACAGTCCTCCTGCCTTAGCCTCCCAAAGTCCTGGGATTACAGGAGTGAGCCAGCGTACCTGGCCTAGCTTGTGCTCTTAATCAGAGTATACCCATGGAGGTTGAAGTTAGATTCCAGATAAACGTCCAATTTGAGAATAAGCCAGTAATTTTTAAGTTGCCTCAAATGCTTTCTTATTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTCTCCTGCCTCAGCCTTCCAAGTAGCTAGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCCCCTGGCCTCCAAATGCTTTCTTTAGTCTTAAATGAAACATAATTAAAGGCATCTTTGTGTAACTGGCGAGTCAGATAGTGGGAGAAGAACAGTCTTCTTACTTGGAAAATCCTTTAAAAA 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Task1_train_28841 | A sequence alteration has been identified in ADSL (adenylosuccinate lyase) on Chromosome 22. Is it disease-inducing or harmless? | Pathogenic; Difficulty standing | CAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAAAAACTTGGAGAATAAGAGATTAGGAGGAATGCAGAAAATTTGTAGTAAGGAAAGTATGAATTTTGAAAAGATAAATTGCTTGAGGGGAGGAAGCAGTATGGCCGTGCTGCCCTCTGCTGCTTTGCTTTGGAAGGAGCCCAGAGGTGTCATGTCTTCTGTGACTGTAAAGGTTCCAGGCAGTTCTGCCACATGTGGCTGCCGAGTACTTGAAATGCAGCTAGTGTGACTGAGAAACTGACTTTTTACTTTTATTTATATATTTAGGTTTTGAGACTGGGTCTGGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCACAATCTTGGCTCGTTACAACCTCTGCATCCTGGGCTCAAGCTGTCCTCTCACCTCAGCCTCCCAAGCTGGAACTAGAGGTGCACGCCACCACGCCCGGCAAATTTTTGTGTTGTTTTGTAGAGATGGGTCTCACTGTGTTTTCCAGTGCGGTCTAGAACTTCTGGACTCAAGCGATCCACCGACCTTGGCCTCCCAAAGATGTGAGCCACCATACCTGGCCTGACTTTTTACTTATAAATATTTTCCAATACTTTTTAATTAATCAATTTAAATTTAAATAGCCATATCTGGCTAGTAGCTCCTTTCTTGGATAAAAAAGATCTAAGATGCAAGATCCTTCCCGGAGTCACTGTTTGCAAGTTTCAAGTGAGGTTTAAATCAGTTTCACCACTGTTTGTATTCAGCCCTTGGATCTAAGTTCCGAGCTGCCTGTGGGCTGCCAGCTATTTTTTGCAGCCTAATTTTTCCAGTGATGGATGAATGTAAGACATCAATGTGTTTATTTTCTCATCAATATCTCCTGGAATTGCTTTCAGTTGCACTCATTTGCTGTATATAATTTCCTGGCAAAACTACTTACAGAATTTCTAAATTTGGTTTCTGTAAATCCATCTAAGTAAAATGGCCACCATCATGCCAAGCACTAAGGATTAAGCAATAAATAAAACAAAGCTCCTCAAGAAGTATTCATTCTAGAGGGAAATGACAGGTTAATAAATATGTAAAAATGTCATGTGGTGATAAGTGCTGTAAATAAAACCAAGTGACACAGAGTGTGTTTTACATTGAAGTCAGGGAAGACCTCTTTGAGAAGATGACATTTGATTCCAGAGAGCAGAATGTGTGAGGGAGTGAACCAAGCAGAGGTCTCAGGCAGAAGGAACAGTCAAGAGCAGGATTATGTTGTTGTTTTATTTATTGGAGCTTTCTTTTTTTTTTTTTTTTGGAGACAGAGGCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGCCGCAATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGCGATTCTCCAACCTCAGCCTCCTGAGTAGCTAGGACTACAGGTGCACGCCACCATGCCTGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCGTTGTTGCCCAGGCTGGTCTGTTGGAGCTTTGTTATAGTATACTTTACCATGATTCATTGAGAAGTTCTCTCCCACCCCACCTCGACCCCACTACCCCTGGCCAGTGTACTTTCAACTTGGTTGCCTCAAATTTTAATTTAAGGGTTGGGAGATAGGGTAGTGCTGCTAACATGAATCAGTTTTTTTTCCTTGGTGTCACTTCATTCAAATAACTGTGACACTGAGACTATTTTATTTTATTTTGCCTATTCTGCAGACATTGGGTTTGCCTATCACAGATGAACAAATCCAGGAGATGAAATCAAACCTGGAGAACATCGACTTCAAGATGGCAGCTGAGGAAGAGAAACGTTTACGACATGATGTGATGGCTCACGTGCACACATTTGGCCACTGCTGTCCAAAAGCTGCAGGCATTATTCACCTTGGTGCTACTTCTTGCTATGTTGGAGACAATACTGTAGGCGCCTGTGTTGTTTATACTTAAAACTCAGTCTCTAGAATCTATTTGTCAATTTTATTTGATGTTGTCCAGTTGAGGAAGTGACACTATAGATCTTTTTTTTTTTTTTGAGGCAGAGTCTCCCTCTGTCTCCCAGACTGGAGTGCAGTGGCACGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACACTCGGCTAATTTTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCTATCTCCTGACCTCGTGATCCACCCCCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAGATCTTTATTTTTAAAGGTATCTTGGTTGAAAACGCTGAGGAATTTTTTCAGCTTTTAGTGTGCTTCCAATCTAAACTGTAAGCACCAAATGACCTCTATAAAATAAGACCTACAGATCCTGCTTATGCATTGGTTTGCTGGATGTAAGCCAAGGCCTTAGCATTTTAATGGCTGAGGTAATTTTTCAAAGGAATTTTTTTTTTTTCTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCGGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAATTGATTCCTGTGTCTCGGCCTCCCCAGTAGCTGGGATTCCACGCGCCTGCCACCACGCCGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGTTTTGCCATGTTGGTCAGGCTGGTCTTGAACTCCTAGCCTCAGGTTATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGAGTGCTGAGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAAAGGACTTGTGAAATCCTTTGAAGACCTTTGAAGGACTCTGAAGTCCTTCAAAGACCCTGTCTCAAAAAAAATACTTTGAGACAGGGTCTCGCTTCTGTCACCTAGGCTGGAGTGCAGTGACACGAACATGGCTCACTGCAGCCTTGACCTTCTGGGCTCAAGTGATTCTCCCACCTCGGGCTCCTGAGTAGCTGGGACCACAGGCATGTGCCACTGCACCAGGCTAATTAAAAAAAAATTTTTTTTTTTTTTGGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCGCCTGCCGCCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCAGACGATCTACCCTCCTCAGCCCCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCACGCCTGGCAAATTTTTAAAATATTTATAGGGACAGTGTTTCACCATGCTGCCCAGAATGGCCTTGAACTCCTGTGTTCAAACAGTCCTCCTGCCTTAGCCTCCCAAAGTCCTGGGATTACAGGAGTGAGCCAGCGTACCTGGCCTAGCTTGTGCTCTTAATCAGAGTATACCCATGGAGGTTGAAGTTAGATTCCAGATAAACGTCCAATTTGAGAATAAGCCAGTAATTTTTAAGTTGCCTCAAATGCTTTCTTATTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTCTCCTGCCTCAGCCTTCCAAGTAGCTAGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCCCCTGGCCTCCAAATGCTTTCTTTAGTCTTAAATGAAACATAATTAAAGGCATCTTTGTGTAACTGGCGAGTCAGATAGTGGGAGAAGAACAGTCTTCTTACTTGGAAAATCCTTTAAAAA 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CAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAAAAACTTGGAGAATAAGAGATTAGGAGGAATGCAGAAAATTTGTAGTAAGGAAAGTATGAATTTTGAAAAGATAAATTGCTTGAGGGGAGGAAGCAGTATGGCCGTGCTGCCCTCTGCTGCTTTGCTTTGGAAGGAGCCCAGAGGTGTCATGTCTTCTGTGACTGTAAAGGTTCCAGGCAGTTCTGCCACATGTGGCTGCCGAGTACTTGAAATGCAGCTAGTGTGACTGAGAAACTGACTTTTTACTTTTATTTATATATTTAGGTTTTGAGACTGGGTCTGGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCACAATCTTGGCTCGTTACAACCTCTGCATCCTGGGCTCAAGCTGTCCTCTCACCTCAGCCTCCCAAGCTGGAACTAGAGGTGCACGCCACCACGCCCGGCAAATTTTTGTGTTGTTTTGTAGAGATGGGTCTCACTGTGTTTTCCAGTGCGGTCTAGAACTTCTGGACTCAAGCGATCCACCGACCTTGGCCTCCCAAAGATGTGAGCCACCATACCTGGCCTGACTTTTTACTTATAAATATTTTCCAATACTTTTTAATTAATCAATTTAAATTTAAATAGCCATATCTGGCTAGTAGCTCCTTTCTTGGATAAAAAAGATCTAAGATGCAAGATCCTTCCCGGAGTCACTGTTTGCAAGTTTCAAGTGAGGTTTAAATCAGTTTCACCACTGTTTGTATTCAGCCCTTGGATCTAAGTTCCGAGCTGCCTGTGGGCTGCCAGCTATTTTTTGCAGCCTAATTTTTCCAGTGATGGATGAATGTAAGACATCAATGTGTTTATTTTCTCATCAATATCTCCTGGAATTGCTTTCAGTTGCACTCATTTGCTGTATATAATTTCCTGGCAAAACTACTTACAGAATTTCTAAATTTGGTTTCTGTAAATCCATCTAAGTAAAATGGCCACCATCATGCCAAGCACTAAGGATTAAGCAATAAATAAAACAAAGCTCCTCAAGAAGTATTCATTCTAGAGGGAAATGACAGGTTAATAAATATGTAAAAATGTCATGTGGTGATAAGTGCTGTAAATAAAACCAAGTGACACAGAGTGTGTTTTACATTGAAGTCAGGGAAGACCTCTTTGAGAAGATGACATTTGATTCCAGAGAGCAGAATGTGTGAGGGAGTGAACCAAGCAGAGGTCTCAGGCAGAAGGAACAGTCAAGAGCAGGATTATGTTGTTGTTTTATTTATTGGAGCTTTCTTTTTTTTTTTTTTTTGGAGACAGAGGCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGCCGCAATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGCGATTCTCCAACCTCAGCCTCCTGAGTAGCTAGGACTACAGGTGCACGCCACCATGCCTGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCGTTGTTGCCCAGGCTGGTCTGTTGGAGCTTTGTTATAGTATACTTTACCATGATTCATTGAGAAGTTCTCTCCCACCCCACCTCGACCCCACTACCCCTGGCCAGTGTACTTTCAACTTGGTTGCCTCAAATTTTAATTTAAGGGTTGGGAGATAGGGTAGTGCTGCTAACATGAATCAGTTTTTTTTCCTTGGTGTCACTTCATTCAAATAACTGTGACACTGAGACTATTTTATTTTATTTTGCCTATTCTGCAGACATTGGGTTTGCCTATCACAGATGAACAAATCCAGGAGATGAAATCAAACCTGGAGAACATCGACTTCAAGATGGCAGCTGAGGAAGAGAAACGTTTACGACATGATGTGATGGCTCACGTGCACACATTTGGCCACTGCTGTCCAAAAGCTGCAGGCATTATTCACCTTGGTGCTACTTCTTGCCATGTTGGAGACAATACTGTAGGCGCCTGTGTTGTTTATACTTAAAACTCAGTCTCTAGAATCTATTTGTCAATTTTATTTGATGTTGTCCAGTTGAGGAAGTGACACTATAGATCTTTTTTTTTTTTTTGAGGCAGAGTCTCCCTCTGTCTCCCAGACTGGAGTGCAGTGGCACGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACACTCGGCTAATTTTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCTATCTCCTGACCTCGTGATCCACCCCCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAGATCTTTATTTTTAAAGGTATCTTGGTTGAAAACGCTGAGGAATTTTTTCAGCTTTTAGTGTGCTTCCAATCTAAACTGTAAGCACCAAATGACCTCTATAAAATAAGACCTACAGATCCTGCTTATGCATTGGTTTGCTGGATGTAAGCCAAGGCCTTAGCATTTTAATGGCTGAGGTAATTTTTCAAAGGAATTTTTTTTTTTTCTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCGGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAATTGATTCCTGTGTCTCGGCCTCCCCAGTAGCTGGGATTCCACGCGCCTGCCACCACGCCGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGTTTTGCCATGTTGGTCAGGCTGGTCTTGAACTCCTAGCCTCAGGTTATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGAGTGCTGAGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAAAGGACTTGTGAAATCCTTTGAAGACCTTTGAAGGACTCTGAAGTCCTTCAAAGACCCTGTCTCAAAAAAAATACTTTGAGACAGGGTCTCGCTTCTGTCACCTAGGCTGGAGTGCAGTGACACGAACATGGCTCACTGCAGCCTTGACCTTCTGGGCTCAAGTGATTCTCCCACCTCGGGCTCCTGAGTAGCTGGGACCACAGGCATGTGCCACTGCACCAGGCTAATTAAAAAAAAATTTTTTTTTTTTTTGGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCGCCTGCCGCCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCAGACGATCTACCCTCCTCAGCCCCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCACGCCTGGCAAATTTTTAAAATATTTATAGGGACAGTGTTTCACCATGCTGCCCAGAATGGCCTTGAACTCCTGTGTTCAAACAGTCCTCCTGCCTTAGCCTCCCAAAGTCCTGGGATTACAGGAGTGAGCCAGCGTACCTGGCCTAGCTTGTGCTCTTAATCAGAGTATACCCATGGAGGTTGAAGTTAGATTCCAGATAAACGTCCAATTTGAGAATAAGCCAGTAATTTTTAAGTTGCCTCAAATGCTTTCTTATTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTCTCCTGCCTCAGCCTTCCAAGTAGCTAGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCCCCTGGCCTCCAAATGCTTTCTTTAGTCTTAAATGAAACATAATTAAAGGCATCTTTGTGTAACTGGCGAGTCAGATAGTGGGAGAAGAACAGTCTTCTTACTTGGAAAATCCTTTAAAAA 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Task1_train_28842 | Gene ADSL (adenylosuccinate lyase) on Chromosome 22 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Generalized myoclonic seizure | CAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAAAAACTTGGAGAATAAGAGATTAGGAGGAATGCAGAAAATTTGTAGTAAGGAAAGTATGAATTTTGAAAAGATAAATTGCTTGAGGGGAGGAAGCAGTATGGCCGTGCTGCCCTCTGCTGCTTTGCTTTGGAAGGAGCCCAGAGGTGTCATGTCTTCTGTGACTGTAAAGGTTCCAGGCAGTTCTGCCACATGTGGCTGCCGAGTACTTGAAATGCAGCTAGTGTGACTGAGAAACTGACTTTTTACTTTTATTTATATATTTAGGTTTTGAGACTGGGTCTGGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCACAATCTTGGCTCGTTACAACCTCTGCATCCTGGGCTCAAGCTGTCCTCTCACCTCAGCCTCCCAAGCTGGAACTAGAGGTGCACGCCACCACGCCCGGCAAATTTTTGTGTTGTTTTGTAGAGATGGGTCTCACTGTGTTTTCCAGTGCGGTCTAGAACTTCTGGACTCAAGCGATCCACCGACCTTGGCCTCCCAAAGATGTGAGCCACCATACCTGGCCTGACTTTTTACTTATAAATATTTTCCAATACTTTTTAATTAATCAATTTAAATTTAAATAGCCATATCTGGCTAGTAGCTCCTTTCTTGGATAAAAAAGATCTAAGATGCAAGATCCTTCCCGGAGTCACTGTTTGCAAGTTTCAAGTGAGGTTTAAATCAGTTTCACCACTGTTTGTATTCAGCCCTTGGATCTAAGTTCCGAGCTGCCTGTGGGCTGCCAGCTATTTTTTGCAGCCTAATTTTTCCAGTGATGGATGAATGTAAGACATCAATGTGTTTATTTTCTCATCAATATCTCCTGGAATTGCTTTCAGTTGCACTCATTTGCTGTATATAATTTCCTGGCAAAACTACTTACAGAATTTCTAAATTTGGTTTCTGTAAATCCATCTAAGTAAAATGGCCACCATCATGCCAAGCACTAAGGATTAAGCAATAAATAAAACAAAGCTCCTCAAGAAGTATTCATTCTAGAGGGAAATGACAGGTTAATAAATATGTAAAAATGTCATGTGGTGATAAGTGCTGTAAATAAAACCAAGTGACACAGAGTGTGTTTTACATTGAAGTCAGGGAAGACCTCTTTGAGAAGATGACATTTGATTCCAGAGAGCAGAATGTGTGAGGGAGTGAACCAAGCAGAGGTCTCAGGCAGAAGGAACAGTCAAGAGCAGGATTATGTTGTTGTTTTATTTATTGGAGCTTTCTTTTTTTTTTTTTTTTGGAGACAGAGGCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGCCGCAATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGCGATTCTCCAACCTCAGCCTCCTGAGTAGCTAGGACTACAGGTGCACGCCACCATGCCTGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCGTTGTTGCCCAGGCTGGTCTGTTGGAGCTTTGTTATAGTATACTTTACCATGATTCATTGAGAAGTTCTCTCCCACCCCACCTCGACCCCACTACCCCTGGCCAGTGTACTTTCAACTTGGTTGCCTCAAATTTTAATTTAAGGGTTGGGAGATAGGGTAGTGCTGCTAACATGAATCAGTTTTTTTTCCTTGGTGTCACTTCATTCAAATAACTGTGACACTGAGACTATTTTATTTTATTTTGCCTATTCTGCAGACATTGGGTTTGCCTATCACAGATGAACAAATCCAGGAGATGAAATCAAACCTGGAGAACATCGACTTCAAGATGGCAGCTGAGGAAGAGAAACGTTTACGACATGATGTGATGGCTCACGTGCACACATTTGGCCACTGCTGTCCAAAAGCTGCAGGCATTATTCACCTTGGTGCTACTTCTTGCTATGTTGGAGACAATACTGTAGGCGCCTGTGTTGTTTATACTTAAAACTCAGTCTCTAGAATCTATTTGTCAATTTTATTTGATGTTGTCCAGTTGAGGAAGTGACACTATAGATCTTTTTTTTTTTTTTGAGGCAGAGTCTCCCTCTGTCTCCCAGACTGGAGTGCAGTGGCACGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACACTCGGCTAATTTTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCTATCTCCTGACCTCGTGATCCACCCCCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAGATCTTTATTTTTAAAGGTATCTTGGTTGAAAACGCTGAGGAATTTTTTCAGCTTTTAGTGTGCTTCCAATCTAAACTGTAAGCACCAAATGACCTCTATAAAATAAGACCTACAGATCCTGCTTATGCATTGGTTTGCTGGATGTAAGCCAAGGCCTTAGCATTTTAATGGCTGAGGTAATTTTTCAAAGGAATTTTTTTTTTTTCTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCGGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAATTGATTCCTGTGTCTCGGCCTCCCCAGTAGCTGGGATTCCACGCGCCTGCCACCACGCCGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGTTTTGCCATGTTGGTCAGGCTGGTCTTGAACTCCTAGCCTCAGGTTATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGAGTGCTGAGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAAAGGACTTGTGAAATCCTTTGAAGACCTTTGAAGGACTCTGAAGTCCTTCAAAGACCCTGTCTCAAAAAAAATACTTTGAGACAGGGTCTCGCTTCTGTCACCTAGGCTGGAGTGCAGTGACACGAACATGGCTCACTGCAGCCTTGACCTTCTGGGCTCAAGTGATTCTCCCACCTCGGGCTCCTGAGTAGCTGGGACCACAGGCATGTGCCACTGCACCAGGCTAATTAAAAAAAAATTTTTTTTTTTTTTGGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCGCCTGCCGCCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCAGACGATCTACCCTCCTCAGCCCCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCACGCCTGGCAAATTTTTAAAATATTTATAGGGACAGTGTTTCACCATGCTGCCCAGAATGGCCTTGAACTCCTGTGTTCAAACAGTCCTCCTGCCTTAGCCTCCCAAAGTCCTGGGATTACAGGAGTGAGCCAGCGTACCTGGCCTAGCTTGTGCTCTTAATCAGAGTATACCCATGGAGGTTGAAGTTAGATTCCAGATAAACGTCCAATTTGAGAATAAGCCAGTAATTTTTAAGTTGCCTCAAATGCTTTCTTATTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTCTCCTGCCTCAGCCTTCCAAGTAGCTAGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCCCCTGGCCTCCAAATGCTTTCTTTAGTCTTAAATGAAACATAATTAAAGGCATCTTTGTGTAACTGGCGAGTCAGATAGTGGGAGAAGAACAGTCTTCTTACTTGGAAAATCCTTTAAAAA 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CAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAAAAACTTGGAGAATAAGAGATTAGGAGGAATGCAGAAAATTTGTAGTAAGGAAAGTATGAATTTTGAAAAGATAAATTGCTTGAGGGGAGGAAGCAGTATGGCCGTGCTGCCCTCTGCTGCTTTGCTTTGGAAGGAGCCCAGAGGTGTCATGTCTTCTGTGACTGTAAAGGTTCCAGGCAGTTCTGCCACATGTGGCTGCCGAGTACTTGAAATGCAGCTAGTGTGACTGAGAAACTGACTTTTTACTTTTATTTATATATTTAGGTTTTGAGACTGGGTCTGGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCACAATCTTGGCTCGTTACAACCTCTGCATCCTGGGCTCAAGCTGTCCTCTCACCTCAGCCTCCCAAGCTGGAACTAGAGGTGCACGCCACCACGCCCGGCAAATTTTTGTGTTGTTTTGTAGAGATGGGTCTCACTGTGTTTTCCAGTGCGGTCTAGAACTTCTGGACTCAAGCGATCCACCGACCTTGGCCTCCCAAAGATGTGAGCCACCATACCTGGCCTGACTTTTTACTTATAAATATTTTCCAATACTTTTTAATTAATCAATTTAAATTTAAATAGCCATATCTGGCTAGTAGCTCCTTTCTTGGATAAAAAAGATCTAAGATGCAAGATCCTTCCCGGAGTCACTGTTTGCAAGTTTCAAGTGAGGTTTAAATCAGTTTCACCACTGTTTGTATTCAGCCCTTGGATCTAAGTTCCGAGCTGCCTGTGGGCTGCCAGCTATTTTTTGCAGCCTAATTTTTCCAGTGATGGATGAATGTAAGACATCAATGTGTTTATTTTCTCATCAATATCTCCTGGAATTGCTTTCAGTTGCACTCATTTGCTGTATATAATTTCCTGGCAAAACTACTTACAGAATTTCTAAATTTGGTTTCTGTAAATCCATCTAAGTAAAATGGCCACCATCATGCCAAGCACTAAGGATTAAGCAATAAATAAAACAAAGCTCCTCAAGAAGTATTCATTCTAGAGGGAAATGACAGGTTAATAAATATGTAAAAATGTCATGTGGTGATAAGTGCTGTAAATAAAACCAAGTGACACAGAGTGTGTTTTACATTGAAGTCAGGGAAGACCTCTTTGAGAAGATGACATTTGATTCCAGAGAGCAGAATGTGTGAGGGAGTGAACCAAGCAGAGGTCTCAGGCAGAAGGAACAGTCAAGAGCAGGATTATGTTGTTGTTTTATTTATTGGAGCTTTCTTTTTTTTTTTTTTTTGGAGACAGAGGCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGCCGCAATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGCGATTCTCCAACCTCAGCCTCCTGAGTAGCTAGGACTACAGGTGCACGCCACCATGCCTGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCGTTGTTGCCCAGGCTGGTCTGTTGGAGCTTTGTTATAGTATACTTTACCATGATTCATTGAGAAGTTCTCTCCCACCCCACCTCGACCCCACTACCCCTGGCCAGTGTACTTTCAACTTGGTTGCCTCAAATTTTAATTTAAGGGTTGGGAGATAGGGTAGTGCTGCTAACATGAATCAGTTTTTTTTCCTTGGTGTCACTTCATTCAAATAACTGTGACACTGAGACTATTTTATTTTATTTTGCCTATTCTGCAGACATTGGGTTTGCCTATCACAGATGAACAAATCCAGGAGATGAAATCAAACCTGGAGAACATCGACTTCAAGATGGCAGCTGAGGAAGAGAAACGTTTACGACATGATGTGATGGCTCACGTGCACACATTTGGCCACTGCTGTCCAAAAGCTGCAGGCATTATTCACCTTGGTGCTACTTCTTGCCATGTTGGAGACAATACTGTAGGCGCCTGTGTTGTTTATACTTAAAACTCAGTCTCTAGAATCTATTTGTCAATTTTATTTGATGTTGTCCAGTTGAGGAAGTGACACTATAGATCTTTTTTTTTTTTTTGAGGCAGAGTCTCCCTCTGTCTCCCAGACTGGAGTGCAGTGGCACGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACACTCGGCTAATTTTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCTATCTCCTGACCTCGTGATCCACCCCCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAGATCTTTATTTTTAAAGGTATCTTGGTTGAAAACGCTGAGGAATTTTTTCAGCTTTTAGTGTGCTTCCAATCTAAACTGTAAGCACCAAATGACCTCTATAAAATAAGACCTACAGATCCTGCTTATGCATTGGTTTGCTGGATGTAAGCCAAGGCCTTAGCATTTTAATGGCTGAGGTAATTTTTCAAAGGAATTTTTTTTTTTTCTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCGGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAATTGATTCCTGTGTCTCGGCCTCCCCAGTAGCTGGGATTCCACGCGCCTGCCACCACGCCGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGTTTTGCCATGTTGGTCAGGCTGGTCTTGAACTCCTAGCCTCAGGTTATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGAGTGCTGAGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAAAGGACTTGTGAAATCCTTTGAAGACCTTTGAAGGACTCTGAAGTCCTTCAAAGACCCTGTCTCAAAAAAAATACTTTGAGACAGGGTCTCGCTTCTGTCACCTAGGCTGGAGTGCAGTGACACGAACATGGCTCACTGCAGCCTTGACCTTCTGGGCTCAAGTGATTCTCCCACCTCGGGCTCCTGAGTAGCTGGGACCACAGGCATGTGCCACTGCACCAGGCTAATTAAAAAAAAATTTTTTTTTTTTTTGGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCGCCTGCCGCCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCAGACGATCTACCCTCCTCAGCCCCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCACGCCTGGCAAATTTTTAAAATATTTATAGGGACAGTGTTTCACCATGCTGCCCAGAATGGCCTTGAACTCCTGTGTTCAAACAGTCCTCCTGCCTTAGCCTCCCAAAGTCCTGGGATTACAGGAGTGAGCCAGCGTACCTGGCCTAGCTTGTGCTCTTAATCAGAGTATACCCATGGAGGTTGAAGTTAGATTCCAGATAAACGTCCAATTTGAGAATAAGCCAGTAATTTTTAAGTTGCCTCAAATGCTTTCTTATTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTCTCCTGCCTCAGCCTTCCAAGTAGCTAGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCCCCTGGCCTCCAAATGCTTTCTTTAGTCTTAAATGAAACATAATTAAAGGCATCTTTGTGTAACTGGCGAGTCAGATAGTGGGAGAAGAACAGTCTTCTTACTTGGAAAATCCTTTAAAAA 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Task1_train_28843 | A variant was discovered in gene ADSL (adenylosuccinate lyase), Chromosome 22. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Progressive neurologic deterioration | CAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAAAAACTTGGAGAATAAGAGATTAGGAGGAATGCAGAAAATTTGTAGTAAGGAAAGTATGAATTTTGAAAAGATAAATTGCTTGAGGGGAGGAAGCAGTATGGCCGTGCTGCCCTCTGCTGCTTTGCTTTGGAAGGAGCCCAGAGGTGTCATGTCTTCTGTGACTGTAAAGGTTCCAGGCAGTTCTGCCACATGTGGCTGCCGAGTACTTGAAATGCAGCTAGTGTGACTGAGAAACTGACTTTTTACTTTTATTTATATATTTAGGTTTTGAGACTGGGTCTGGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCACAATCTTGGCTCGTTACAACCTCTGCATCCTGGGCTCAAGCTGTCCTCTCACCTCAGCCTCCCAAGCTGGAACTAGAGGTGCACGCCACCACGCCCGGCAAATTTTTGTGTTGTTTTGTAGAGATGGGTCTCACTGTGTTTTCCAGTGCGGTCTAGAACTTCTGGACTCAAGCGATCCACCGACCTTGGCCTCCCAAAGATGTGAGCCACCATACCTGGCCTGACTTTTTACTTATAAATATTTTCCAATACTTTTTAATTAATCAATTTAAATTTAAATAGCCATATCTGGCTAGTAGCTCCTTTCTTGGATAAAAAAGATCTAAGATGCAAGATCCTTCCCGGAGTCACTGTTTGCAAGTTTCAAGTGAGGTTTAAATCAGTTTCACCACTGTTTGTATTCAGCCCTTGGATCTAAGTTCCGAGCTGCCTGTGGGCTGCCAGCTATTTTTTGCAGCCTAATTTTTCCAGTGATGGATGAATGTAAGACATCAATGTGTTTATTTTCTCATCAATATCTCCTGGAATTGCTTTCAGTTGCACTCATTTGCTGTATATAATTTCCTGGCAAAACTACTTACAGAATTTCTAAATTTGGTTTCTGTAAATCCATCTAAGTAAAATGGCCACCATCATGCCAAGCACTAAGGATTAAGCAATAAATAAAACAAAGCTCCTCAAGAAGTATTCATTCTAGAGGGAAATGACAGGTTAATAAATATGTAAAAATGTCATGTGGTGATAAGTGCTGTAAATAAAACCAAGTGACACAGAGTGTGTTTTACATTGAAGTCAGGGAAGACCTCTTTGAGAAGATGACATTTGATTCCAGAGAGCAGAATGTGTGAGGGAGTGAACCAAGCAGAGGTCTCAGGCAGAAGGAACAGTCAAGAGCAGGATTATGTTGTTGTTTTATTTATTGGAGCTTTCTTTTTTTTTTTTTTTTGGAGACAGAGGCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGCCGCAATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGCGATTCTCCAACCTCAGCCTCCTGAGTAGCTAGGACTACAGGTGCACGCCACCATGCCTGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCGTTGTTGCCCAGGCTGGTCTGTTGGAGCTTTGTTATAGTATACTTTACCATGATTCATTGAGAAGTTCTCTCCCACCCCACCTCGACCCCACTACCCCTGGCCAGTGTACTTTCAACTTGGTTGCCTCAAATTTTAATTTAAGGGTTGGGAGATAGGGTAGTGCTGCTAACATGAATCAGTTTTTTTTCCTTGGTGTCACTTCATTCAAATAACTGTGACACTGAGACTATTTTATTTTATTTTGCCTATTCTGCAGACATTGGGTTTGCCTATCACAGATGAACAAATCCAGGAGATGAAATCAAACCTGGAGAACATCGACTTCAAGATGGCAGCTGAGGAAGAGAAACGTTTACGACATGATGTGATGGCTCACGTGCACACATTTGGCCACTGCTGTCCAAAAGCTGCAGGCATTATTCACCTTGGTGCTACTTCTTGCTATGTTGGAGACAATACTGTAGGCGCCTGTGTTGTTTATACTTAAAACTCAGTCTCTAGAATCTATTTGTCAATTTTATTTGATGTTGTCCAGTTGAGGAAGTGACACTATAGATCTTTTTTTTTTTTTTGAGGCAGAGTCTCCCTCTGTCTCCCAGACTGGAGTGCAGTGGCACGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACACTCGGCTAATTTTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCTATCTCCTGACCTCGTGATCCACCCCCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAGATCTTTATTTTTAAAGGTATCTTGGTTGAAAACGCTGAGGAATTTTTTCAGCTTTTAGTGTGCTTCCAATCTAAACTGTAAGCACCAAATGACCTCTATAAAATAAGACCTACAGATCCTGCTTATGCATTGGTTTGCTGGATGTAAGCCAAGGCCTTAGCATTTTAATGGCTGAGGTAATTTTTCAAAGGAATTTTTTTTTTTTCTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCGGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAATTGATTCCTGTGTCTCGGCCTCCCCAGTAGCTGGGATTCCACGCGCCTGCCACCACGCCGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGTTTTGCCATGTTGGTCAGGCTGGTCTTGAACTCCTAGCCTCAGGTTATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGAGTGCTGAGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAAAGGACTTGTGAAATCCTTTGAAGACCTTTGAAGGACTCTGAAGTCCTTCAAAGACCCTGTCTCAAAAAAAATACTTTGAGACAGGGTCTCGCTTCTGTCACCTAGGCTGGAGTGCAGTGACACGAACATGGCTCACTGCAGCCTTGACCTTCTGGGCTCAAGTGATTCTCCCACCTCGGGCTCCTGAGTAGCTGGGACCACAGGCATGTGCCACTGCACCAGGCTAATTAAAAAAAAATTTTTTTTTTTTTTGGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCGCCTGCCGCCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCAGACGATCTACCCTCCTCAGCCCCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCACGCCTGGCAAATTTTTAAAATATTTATAGGGACAGTGTTTCACCATGCTGCCCAGAATGGCCTTGAACTCCTGTGTTCAAACAGTCCTCCTGCCTTAGCCTCCCAAAGTCCTGGGATTACAGGAGTGAGCCAGCGTACCTGGCCTAGCTTGTGCTCTTAATCAGAGTATACCCATGGAGGTTGAAGTTAGATTCCAGATAAACGTCCAATTTGAGAATAAGCCAGTAATTTTTAAGTTGCCTCAAATGCTTTCTTATTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTCTCCTGCCTCAGCCTTCCAAGTAGCTAGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCCCCTGGCCTCCAAATGCTTTCTTTAGTCTTAAATGAAACATAATTAAAGGCATCTTTGTGTAACTGGCGAGTCAGATAGTGGGAGAAGAACAGTCTTCTTACTTGGAAAATCCTTTAAAAA 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CAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAAAAACTTGGAGAATAAGAGATTAGGAGGAATGCAGAAAATTTGTAGTAAGGAAAGTATGAATTTTGAAAAGATAAATTGCTTGAGGGGAGGAAGCAGTATGGCCGTGCTGCCCTCTGCTGCTTTGCTTTGGAAGGAGCCCAGAGGTGTCATGTCTTCTGTGACTGTAAAGGTTCCAGGCAGTTCTGCCACATGTGGCTGCCGAGTACTTGAAATGCAGCTAGTGTGACTGAGAAACTGACTTTTTACTTTTATTTATATATTTAGGTTTTGAGACTGGGTCTGGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCACAATCTTGGCTCGTTACAACCTCTGCATCCTGGGCTCAAGCTGTCCTCTCACCTCAGCCTCCCAAGCTGGAACTAGAGGTGCACGCCACCACGCCCGGCAAATTTTTGTGTTGTTTTGTAGAGATGGGTCTCACTGTGTTTTCCAGTGCGGTCTAGAACTTCTGGACTCAAGCGATCCACCGACCTTGGCCTCCCAAAGATGTGAGCCACCATACCTGGCCTGACTTTTTACTTATAAATATTTTCCAATACTTTTTAATTAATCAATTTAAATTTAAATAGCCATATCTGGCTAGTAGCTCCTTTCTTGGATAAAAAAGATCTAAGATGCAAGATCCTTCCCGGAGTCACTGTTTGCAAGTTTCAAGTGAGGTTTAAATCAGTTTCACCACTGTTTGTATTCAGCCCTTGGATCTAAGTTCCGAGCTGCCTGTGGGCTGCCAGCTATTTTTTGCAGCCTAATTTTTCCAGTGATGGATGAATGTAAGACATCAATGTGTTTATTTTCTCATCAATATCTCCTGGAATTGCTTTCAGTTGCACTCATTTGCTGTATATAATTTCCTGGCAAAACTACTTACAGAATTTCTAAATTTGGTTTCTGTAAATCCATCTAAGTAAAATGGCCACCATCATGCCAAGCACTAAGGATTAAGCAATAAATAAAACAAAGCTCCTCAAGAAGTATTCATTCTAGAGGGAAATGACAGGTTAATAAATATGTAAAAATGTCATGTGGTGATAAGTGCTGTAAATAAAACCAAGTGACACAGAGTGTGTTTTACATTGAAGTCAGGGAAGACCTCTTTGAGAAGATGACATTTGATTCCAGAGAGCAGAATGTGTGAGGGAGTGAACCAAGCAGAGGTCTCAGGCAGAAGGAACAGTCAAGAGCAGGATTATGTTGTTGTTTTATTTATTGGAGCTTTCTTTTTTTTTTTTTTTTGGAGACAGAGGCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGCCGCAATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGCGATTCTCCAACCTCAGCCTCCTGAGTAGCTAGGACTACAGGTGCACGCCACCATGCCTGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCGTTGTTGCCCAGGCTGGTCTGTTGGAGCTTTGTTATAGTATACTTTACCATGATTCATTGAGAAGTTCTCTCCCACCCCACCTCGACCCCACTACCCCTGGCCAGTGTACTTTCAACTTGGTTGCCTCAAATTTTAATTTAAGGGTTGGGAGATAGGGTAGTGCTGCTAACATGAATCAGTTTTTTTTCCTTGGTGTCACTTCATTCAAATAACTGTGACACTGAGACTATTTTATTTTATTTTGCCTATTCTGCAGACATTGGGTTTGCCTATCACAGATGAACAAATCCAGGAGATGAAATCAAACCTGGAGAACATCGACTTCAAGATGGCAGCTGAGGAAGAGAAACGTTTACGACATGATGTGATGGCTCACGTGCACACATTTGGCCACTGCTGTCCAAAAGCTGCAGGCATTATTCACCTTGGTGCTACTTCTTGCCATGTTGGAGACAATACTGTAGGCGCCTGTGTTGTTTATACTTAAAACTCAGTCTCTAGAATCTATTTGTCAATTTTATTTGATGTTGTCCAGTTGAGGAAGTGACACTATAGATCTTTTTTTTTTTTTTGAGGCAGAGTCTCCCTCTGTCTCCCAGACTGGAGTGCAGTGGCACGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACACTCGGCTAATTTTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCTATCTCCTGACCTCGTGATCCACCCCCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAGATCTTTATTTTTAAAGGTATCTTGGTTGAAAACGCTGAGGAATTTTTTCAGCTTTTAGTGTGCTTCCAATCTAAACTGTAAGCACCAAATGACCTCTATAAAATAAGACCTACAGATCCTGCTTATGCATTGGTTTGCTGGATGTAAGCCAAGGCCTTAGCATTTTAATGGCTGAGGTAATTTTTCAAAGGAATTTTTTTTTTTTCTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCGGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAATTGATTCCTGTGTCTCGGCCTCCCCAGTAGCTGGGATTCCACGCGCCTGCCACCACGCCGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGTTTTGCCATGTTGGTCAGGCTGGTCTTGAACTCCTAGCCTCAGGTTATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGAGTGCTGAGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAAAGGACTTGTGAAATCCTTTGAAGACCTTTGAAGGACTCTGAAGTCCTTCAAAGACCCTGTCTCAAAAAAAATACTTTGAGACAGGGTCTCGCTTCTGTCACCTAGGCTGGAGTGCAGTGACACGAACATGGCTCACTGCAGCCTTGACCTTCTGGGCTCAAGTGATTCTCCCACCTCGGGCTCCTGAGTAGCTGGGACCACAGGCATGTGCCACTGCACCAGGCTAATTAAAAAAAAATTTTTTTTTTTTTTGGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCGCCTGCCGCCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCAGACGATCTACCCTCCTCAGCCCCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCACGCCTGGCAAATTTTTAAAATATTTATAGGGACAGTGTTTCACCATGCTGCCCAGAATGGCCTTGAACTCCTGTGTTCAAACAGTCCTCCTGCCTTAGCCTCCCAAAGTCCTGGGATTACAGGAGTGAGCCAGCGTACCTGGCCTAGCTTGTGCTCTTAATCAGAGTATACCCATGGAGGTTGAAGTTAGATTCCAGATAAACGTCCAATTTGAGAATAAGCCAGTAATTTTTAAGTTGCCTCAAATGCTTTCTTATTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTCTCCTGCCTCAGCCTTCCAAGTAGCTAGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCCCCTGGCCTCCAAATGCTTTCTTTAGTCTTAAATGAAACATAATTAAAGGCATCTTTGTGTAACTGGCGAGTCAGATAGTGGGAGAAGAACAGTCTTCTTACTTGGAAAATCCTTTAAAAA 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Task1_train_28844 | This alteration occurs within gene ADSL (adenylosuccinate lyase) located on Chromosome 22. Is it associated with a disease or is it a benign variant? | Pathogenic; Inborn genetic diseases | CAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAAAAACTTGGAGAATAAGAGATTAGGAGGAATGCAGAAAATTTGTAGTAAGGAAAGTATGAATTTTGAAAAGATAAATTGCTTGAGGGGAGGAAGCAGTATGGCCGTGCTGCCCTCTGCTGCTTTGCTTTGGAAGGAGCCCAGAGGTGTCATGTCTTCTGTGACTGTAAAGGTTCCAGGCAGTTCTGCCACATGTGGCTGCCGAGTACTTGAAATGCAGCTAGTGTGACTGAGAAACTGACTTTTTACTTTTATTTATATATTTAGGTTTTGAGACTGGGTCTGGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCACAATCTTGGCTCGTTACAACCTCTGCATCCTGGGCTCAAGCTGTCCTCTCACCTCAGCCTCCCAAGCTGGAACTAGAGGTGCACGCCACCACGCCCGGCAAATTTTTGTGTTGTTTTGTAGAGATGGGTCTCACTGTGTTTTCCAGTGCGGTCTAGAACTTCTGGACTCAAGCGATCCACCGACCTTGGCCTCCCAAAGATGTGAGCCACCATACCTGGCCTGACTTTTTACTTATAAATATTTTCCAATACTTTTTAATTAATCAATTTAAATTTAAATAGCCATATCTGGCTAGTAGCTCCTTTCTTGGATAAAAAAGATCTAAGATGCAAGATCCTTCCCGGAGTCACTGTTTGCAAGTTTCAAGTGAGGTTTAAATCAGTTTCACCACTGTTTGTATTCAGCCCTTGGATCTAAGTTCCGAGCTGCCTGTGGGCTGCCAGCTATTTTTTGCAGCCTAATTTTTCCAGTGATGGATGAATGTAAGACATCAATGTGTTTATTTTCTCATCAATATCTCCTGGAATTGCTTTCAGTTGCACTCATTTGCTGTATATAATTTCCTGGCAAAACTACTTACAGAATTTCTAAATTTGGTTTCTGTAAATCCATCTAAGTAAAATGGCCACCATCATGCCAAGCACTAAGGATTAAGCAATAAATAAAACAAAGCTCCTCAAGAAGTATTCATTCTAGAGGGAAATGACAGGTTAATAAATATGTAAAAATGTCATGTGGTGATAAGTGCTGTAAATAAAACCAAGTGACACAGAGTGTGTTTTACATTGAAGTCAGGGAAGACCTCTTTGAGAAGATGACATTTGATTCCAGAGAGCAGAATGTGTGAGGGAGTGAACCAAGCAGAGGTCTCAGGCAGAAGGAACAGTCAAGAGCAGGATTATGTTGTTGTTTTATTTATTGGAGCTTTCTTTTTTTTTTTTTTTTGGAGACAGAGGCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGCCGCAATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGCGATTCTCCAACCTCAGCCTCCTGAGTAGCTAGGACTACAGGTGCACGCCACCATGCCTGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCGTTGTTGCCCAGGCTGGTCTGTTGGAGCTTTGTTATAGTATACTTTACCATGATTCATTGAGAAGTTCTCTCCCACCCCACCTCGACCCCACTACCCCTGGCCAGTGTACTTTCAACTTGGTTGCCTCAAATTTTAATTTAAGGGTTGGGAGATAGGGTAGTGCTGCTAACATGAATCAGTTTTTTTTCCTTGGTGTCACTTCATTCAAATAACTGTGACACTGAGACTATTTTATTTTATTTTGCCTATTCTGCAGACATTGGGTTTGCCTATCACAGATGAACAAATCCAGGAGATGAAATCAAACCTGGAGAACATCGACTTCAAGATGGCAGCTGAGGAAGAGAAACGTTTACGACATGATGTGATGGCTCACGTGCACACATTTGGCCACTGCTGTCCAAAAGCTGCAGGCATTATTCACCTTGGTGCTACTTCTTGCTATGTTGGAGACAATACTGTAGGCGCCTGTGTTGTTTATACTTAAAACTCAGTCTCTAGAATCTATTTGTCAATTTTATTTGATGTTGTCCAGTTGAGGAAGTGACACTATAGATCTTTTTTTTTTTTTTGAGGCAGAGTCTCCCTCTGTCTCCCAGACTGGAGTGCAGTGGCACGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACACTCGGCTAATTTTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCTATCTCCTGACCTCGTGATCCACCCCCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAGATCTTTATTTTTAAAGGTATCTTGGTTGAAAACGCTGAGGAATTTTTTCAGCTTTTAGTGTGCTTCCAATCTAAACTGTAAGCACCAAATGACCTCTATAAAATAAGACCTACAGATCCTGCTTATGCATTGGTTTGCTGGATGTAAGCCAAGGCCTTAGCATTTTAATGGCTGAGGTAATTTTTCAAAGGAATTTTTTTTTTTTCTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCGGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAATTGATTCCTGTGTCTCGGCCTCCCCAGTAGCTGGGATTCCACGCGCCTGCCACCACGCCGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGTTTTGCCATGTTGGTCAGGCTGGTCTTGAACTCCTAGCCTCAGGTTATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGAGTGCTGAGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAAAGGACTTGTGAAATCCTTTGAAGACCTTTGAAGGACTCTGAAGTCCTTCAAAGACCCTGTCTCAAAAAAAATACTTTGAGACAGGGTCTCGCTTCTGTCACCTAGGCTGGAGTGCAGTGACACGAACATGGCTCACTGCAGCCTTGACCTTCTGGGCTCAAGTGATTCTCCCACCTCGGGCTCCTGAGTAGCTGGGACCACAGGCATGTGCCACTGCACCAGGCTAATTAAAAAAAAATTTTTTTTTTTTTTGGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCGCCTGCCGCCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCAGACGATCTACCCTCCTCAGCCCCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCACGCCTGGCAAATTTTTAAAATATTTATAGGGACAGTGTTTCACCATGCTGCCCAGAATGGCCTTGAACTCCTGTGTTCAAACAGTCCTCCTGCCTTAGCCTCCCAAAGTCCTGGGATTACAGGAGTGAGCCAGCGTACCTGGCCTAGCTTGTGCTCTTAATCAGAGTATACCCATGGAGGTTGAAGTTAGATTCCAGATAAACGTCCAATTTGAGAATAAGCCAGTAATTTTTAAGTTGCCTCAAATGCTTTCTTATTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTCTCCTGCCTCAGCCTTCCAAGTAGCTAGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCCCCTGGCCTCCAAATGCTTTCTTTAGTCTTAAATGAAACATAATTAAAGGCATCTTTGTGTAACTGGCGAGTCAGATAGTGGGAGAAGAACAGTCTTCTTACTTGGAAAATCCTTTAAAAA 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CAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAAAAACTTGGAGAATAAGAGATTAGGAGGAATGCAGAAAATTTGTAGTAAGGAAAGTATGAATTTTGAAAAGATAAATTGCTTGAGGGGAGGAAGCAGTATGGCCGTGCTGCCCTCTGCTGCTTTGCTTTGGAAGGAGCCCAGAGGTGTCATGTCTTCTGTGACTGTAAAGGTTCCAGGCAGTTCTGCCACATGTGGCTGCCGAGTACTTGAAATGCAGCTAGTGTGACTGAGAAACTGACTTTTTACTTTTATTTATATATTTAGGTTTTGAGACTGGGTCTGGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCACAATCTTGGCTCGTTACAACCTCTGCATCCTGGGCTCAAGCTGTCCTCTCACCTCAGCCTCCCAAGCTGGAACTAGAGGTGCACGCCACCACGCCCGGCAAATTTTTGTGTTGTTTTGTAGAGATGGGTCTCACTGTGTTTTCCAGTGCGGTCTAGAACTTCTGGACTCAAGCGATCCACCGACCTTGGCCTCCCAAAGATGTGAGCCACCATACCTGGCCTGACTTTTTACTTATAAATATTTTCCAATACTTTTTAATTAATCAATTTAAATTTAAATAGCCATATCTGGCTAGTAGCTCCTTTCTTGGATAAAAAAGATCTAAGATGCAAGATCCTTCCCGGAGTCACTGTTTGCAAGTTTCAAGTGAGGTTTAAATCAGTTTCACCACTGTTTGTATTCAGCCCTTGGATCTAAGTTCCGAGCTGCCTGTGGGCTGCCAGCTATTTTTTGCAGCCTAATTTTTCCAGTGATGGATGAATGTAAGACATCAATGTGTTTATTTTCTCATCAATATCTCCTGGAATTGCTTTCAGTTGCACTCATTTGCTGTATATAATTTCCTGGCAAAACTACTTACAGAATTTCTAAATTTGGTTTCTGTAAATCCATCTAAGTAAAATGGCCACCATCATGCCAAGCACTAAGGATTAAGCAATAAATAAAACAAAGCTCCTCAAGAAGTATTCATTCTAGAGGGAAATGACAGGTTAATAAATATGTAAAAATGTCATGTGGTGATAAGTGCTGTAAATAAAACCAAGTGACACAGAGTGTGTTTTACATTGAAGTCAGGGAAGACCTCTTTGAGAAGATGACATTTGATTCCAGAGAGCAGAATGTGTGAGGGAGTGAACCAAGCAGAGGTCTCAGGCAGAAGGAACAGTCAAGAGCAGGATTATGTTGTTGTTTTATTTATTGGAGCTTTCTTTTTTTTTTTTTTTTGGAGACAGAGGCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGCCGCAATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGCGATTCTCCAACCTCAGCCTCCTGAGTAGCTAGGACTACAGGTGCACGCCACCATGCCTGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCGTTGTTGCCCAGGCTGGTCTGTTGGAGCTTTGTTATAGTATACTTTACCATGATTCATTGAGAAGTTCTCTCCCACCCCACCTCGACCCCACTACCCCTGGCCAGTGTACTTTCAACTTGGTTGCCTCAAATTTTAATTTAAGGGTTGGGAGATAGGGTAGTGCTGCTAACATGAATCAGTTTTTTTTCCTTGGTGTCACTTCATTCAAATAACTGTGACACTGAGACTATTTTATTTTATTTTGCCTATTCTGCAGACATTGGGTTTGCCTATCACAGATGAACAAATCCAGGAGATGAAATCAAACCTGGAGAACATCGACTTCAAGATGGCAGCTGAGGAAGAGAAACGTTTACGACATGATGTGATGGCTCACGTGCACACATTTGGCCACTGCTGTCCAAAAGCTGCAGGCATTATTCACCTTGGTGCTACTTCTTGCCATGTTGGAGACAATACTGTAGGCGCCTGTGTTGTTTATACTTAAAACTCAGTCTCTAGAATCTATTTGTCAATTTTATTTGATGTTGTCCAGTTGAGGAAGTGACACTATAGATCTTTTTTTTTTTTTTGAGGCAGAGTCTCCCTCTGTCTCCCAGACTGGAGTGCAGTGGCACGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACACTCGGCTAATTTTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCTATCTCCTGACCTCGTGATCCACCCCCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAGATCTTTATTTTTAAAGGTATCTTGGTTGAAAACGCTGAGGAATTTTTTCAGCTTTTAGTGTGCTTCCAATCTAAACTGTAAGCACCAAATGACCTCTATAAAATAAGACCTACAGATCCTGCTTATGCATTGGTTTGCTGGATGTAAGCCAAGGCCTTAGCATTTTAATGGCTGAGGTAATTTTTCAAAGGAATTTTTTTTTTTTCTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCGGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAATTGATTCCTGTGTCTCGGCCTCCCCAGTAGCTGGGATTCCACGCGCCTGCCACCACGCCGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGTTTTGCCATGTTGGTCAGGCTGGTCTTGAACTCCTAGCCTCAGGTTATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGAGTGCTGAGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAAAGGACTTGTGAAATCCTTTGAAGACCTTTGAAGGACTCTGAAGTCCTTCAAAGACCCTGTCTCAAAAAAAATACTTTGAGACAGGGTCTCGCTTCTGTCACCTAGGCTGGAGTGCAGTGACACGAACATGGCTCACTGCAGCCTTGACCTTCTGGGCTCAAGTGATTCTCCCACCTCGGGCTCCTGAGTAGCTGGGACCACAGGCATGTGCCACTGCACCAGGCTAATTAAAAAAAAATTTTTTTTTTTTTTGGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCGCCTGCCGCCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCAGACGATCTACCCTCCTCAGCCCCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCACGCCTGGCAAATTTTTAAAATATTTATAGGGACAGTGTTTCACCATGCTGCCCAGAATGGCCTTGAACTCCTGTGTTCAAACAGTCCTCCTGCCTTAGCCTCCCAAAGTCCTGGGATTACAGGAGTGAGCCAGCGTACCTGGCCTAGCTTGTGCTCTTAATCAGAGTATACCCATGGAGGTTGAAGTTAGATTCCAGATAAACGTCCAATTTGAGAATAAGCCAGTAATTTTTAAGTTGCCTCAAATGCTTTCTTATTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTCTCCTGCCTCAGCCTTCCAAGTAGCTAGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCCCCTGGCCTCCAAATGCTTTCTTTAGTCTTAAATGAAACATAATTAAAGGCATCTTTGTGTAACTGGCGAGTCAGATAGTGGGAGAAGAACAGTCTTCTTACTTGGAAAATCCTTTAAAAA 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Task1_train_28845 | A variant was discovered on Chromosome 22, affecting ADSL (adenylosuccinate lyase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Adenylosuccinate lyase deficiency | CAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAAAAACTTGGAGAATAAGAGATTAGGAGGAATGCAGAAAATTTGTAGTAAGGAAAGTATGAATTTTGAAAAGATAAATTGCTTGAGGGGAGGAAGCAGTATGGCCGTGCTGCCCTCTGCTGCTTTGCTTTGGAAGGAGCCCAGAGGTGTCATGTCTTCTGTGACTGTAAAGGTTCCAGGCAGTTCTGCCACATGTGGCTGCCGAGTACTTGAAATGCAGCTAGTGTGACTGAGAAACTGACTTTTTACTTTTATTTATATATTTAGGTTTTGAGACTGGGTCTGGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCACAATCTTGGCTCGTTACAACCTCTGCATCCTGGGCTCAAGCTGTCCTCTCACCTCAGCCTCCCAAGCTGGAACTAGAGGTGCACGCCACCACGCCCGGCAAATTTTTGTGTTGTTTTGTAGAGATGGGTCTCACTGTGTTTTCCAGTGCGGTCTAGAACTTCTGGACTCAAGCGATCCACCGACCTTGGCCTCCCAAAGATGTGAGCCACCATACCTGGCCTGACTTTTTACTTATAAATATTTTCCAATACTTTTTAATTAATCAATTTAAATTTAAATAGCCATATCTGGCTAGTAGCTCCTTTCTTGGATAAAAAAGATCTAAGATGCAAGATCCTTCCCGGAGTCACTGTTTGCAAGTTTCAAGTGAGGTTTAAATCAGTTTCACCACTGTTTGTATTCAGCCCTTGGATCTAAGTTCCGAGCTGCCTGTGGGCTGCCAGCTATTTTTTGCAGCCTAATTTTTCCAGTGATGGATGAATGTAAGACATCAATGTGTTTATTTTCTCATCAATATCTCCTGGAATTGCTTTCAGTTGCACTCATTTGCTGTATATAATTTCCTGGCAAAACTACTTACAGAATTTCTAAATTTGGTTTCTGTAAATCCATCTAAGTAAAATGGCCACCATCATGCCAAGCACTAAGGATTAAGCAATAAATAAAACAAAGCTCCTCAAGAAGTATTCATTCTAGAGGGAAATGACAGGTTAATAAATATGTAAAAATGTCATGTGGTGATAAGTGCTGTAAATAAAACCAAGTGACACAGAGTGTGTTTTACATTGAAGTCAGGGAAGACCTCTTTGAGAAGATGACATTTGATTCCAGAGAGCAGAATGTGTGAGGGAGTGAACCAAGCAGAGGTCTCAGGCAGAAGGAACAGTCAAGAGCAGGATTATGTTGTTGTTTTATTTATTGGAGCTTTCTTTTTTTTTTTTTTTTGGAGACAGAGGCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGCCGCAATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGCGATTCTCCAACCTCAGCCTCCTGAGTAGCTAGGACTACAGGTGCACGCCACCATGCCTGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCGTTGTTGCCCAGGCTGGTCTGTTGGAGCTTTGTTATAGTATACTTTACCATGATTCATTGAGAAGTTCTCTCCCACCCCACCTCGACCCCACTACCCCTGGCCAGTGTACTTTCAACTTGGTTGCCTCAAATTTTAATTTAAGGGTTGGGAGATAGGGTAGTGCTGCTAACATGAATCAGTTTTTTTTCCTTGGTGTCACTTCATTCAAATAACTGTGACACTGAGACTATTTTATTTTATTTTGCCTATTCTGCAGACATTGGGTTTGCCTATCACAGATGAACAAATCCAGGAGATGAAATCAAACCTGGAGAACATCGACTTCAAGATGGCAGCTGAGGAAGAGAAACGTTTACGACATGATGTGATGGCTCACGTGCACACATTTGGCCACTGCTGTCCAAAAGCTGCAGGCATTATTCACCTTGGTGCTACTTCTTGCTATGTTGGAGACAATACTGTAGGCGCCTGTGTTGTTTATACTTAAAACTCAGTCTCTAGAATCTATTTGTCAATTTTATTTGATGTTGTCCAGTTGAGGAAGTGACACTATAGATCTTTTTTTTTTTTTTGAGGCAGAGTCTCCCTCTGTCTCCCAGACTGGAGTGCAGTGGCACGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACACTCGGCTAATTTTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCTATCTCCTGACCTCGTGATCCACCCCCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAGATCTTTATTTTTAAAGGTATCTTGGTTGAAAACGCTGAGGAATTTTTTCAGCTTTTAGTGTGCTTCCAATCTAAACTGTAAGCACCAAATGACCTCTATAAAATAAGACCTACAGATCCTGCTTATGCATTGGTTTGCTGGATGTAAGCCAAGGCCTTAGCATTTTAATGGCTGAGGTAATTTTTCAAAGGAATTTTTTTTTTTTCTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCGGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAATTGATTCCTGTGTCTCGGCCTCCCCAGTAGCTGGGATTCCACGCGCCTGCCACCACGCCGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGTTTTGCCATGTTGGTCAGGCTGGTCTTGAACTCCTAGCCTCAGGTTATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGAGTGCTGAGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAAAGGACTTGTGAAATCCTTTGAAGACCTTTGAAGGACTCTGAAGTCCTTCAAAGACCCTGTCTCAAAAAAAATACTTTGAGACAGGGTCTCGCTTCTGTCACCTAGGCTGGAGTGCAGTGACACGAACATGGCTCACTGCAGCCTTGACCTTCTGGGCTCAAGTGATTCTCCCACCTCGGGCTCCTGAGTAGCTGGGACCACAGGCATGTGCCACTGCACCAGGCTAATTAAAAAAAAATTTTTTTTTTTTTTGGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCGCCTGCCGCCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCAGACGATCTACCCTCCTCAGCCCCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCACGCCTGGCAAATTTTTAAAATATTTATAGGGACAGTGTTTCACCATGCTGCCCAGAATGGCCTTGAACTCCTGTGTTCAAACAGTCCTCCTGCCTTAGCCTCCCAAAGTCCTGGGATTACAGGAGTGAGCCAGCGTACCTGGCCTAGCTTGTGCTCTTAATCAGAGTATACCCATGGAGGTTGAAGTTAGATTCCAGATAAACGTCCAATTTGAGAATAAGCCAGTAATTTTTAAGTTGCCTCAAATGCTTTCTTATTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTCTCCTGCCTCAGCCTTCCAAGTAGCTAGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCCCCTGGCCTCCAAATGCTTTCTTTAGTCTTAAATGAAACATAATTAAAGGCATCTTTGTGTAACTGGCGAGTCAGATAGTGGGAGAAGAACAGTCTTCTTACTTGGAAAATCCTTTAAAAA 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CAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAAAAACTTGGAGAATAAGAGATTAGGAGGAATGCAGAAAATTTGTAGTAAGGAAAGTATGAATTTTGAAAAGATAAATTGCTTGAGGGGAGGAAGCAGTATGGCCGTGCTGCCCTCTGCTGCTTTGCTTTGGAAGGAGCCCAGAGGTGTCATGTCTTCTGTGACTGTAAAGGTTCCAGGCAGTTCTGCCACATGTGGCTGCCGAGTACTTGAAATGCAGCTAGTGTGACTGAGAAACTGACTTTTTACTTTTATTTATATATTTAGGTTTTGAGACTGGGTCTGGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCACAATCTTGGCTCGTTACAACCTCTGCATCCTGGGCTCAAGCTGTCCTCTCACCTCAGCCTCCCAAGCTGGAACTAGAGGTGCACGCCACCACGCCCGGCAAATTTTTGTGTTGTTTTGTAGAGATGGGTCTCACTGTGTTTTCCAGTGCGGTCTAGAACTTCTGGACTCAAGCGATCCACCGACCTTGGCCTCCCAAAGATGTGAGCCACCATACCTGGCCTGACTTTTTACTTATAAATATTTTCCAATACTTTTTAATTAATCAATTTAAATTTAAATAGCCATATCTGGCTAGTAGCTCCTTTCTTGGATAAAAAAGATCTAAGATGCAAGATCCTTCCCGGAGTCACTGTTTGCAAGTTTCAAGTGAGGTTTAAATCAGTTTCACCACTGTTTGTATTCAGCCCTTGGATCTAAGTTCCGAGCTGCCTGTGGGCTGCCAGCTATTTTTTGCAGCCTAATTTTTCCAGTGATGGATGAATGTAAGACATCAATGTGTTTATTTTCTCATCAATATCTCCTGGAATTGCTTTCAGTTGCACTCATTTGCTGTATATAATTTCCTGGCAAAACTACTTACAGAATTTCTAAATTTGGTTTCTGTAAATCCATCTAAGTAAAATGGCCACCATCATGCCAAGCACTAAGGATTAAGCAATAAATAAAACAAAGCTCCTCAAGAAGTATTCATTCTAGAGGGAAATGACAGGTTAATAAATATGTAAAAATGTCATGTGGTGATAAGTGCTGTAAATAAAACCAAGTGACACAGAGTGTGTTTTACATTGAAGTCAGGGAAGACCTCTTTGAGAAGATGACATTTGATTCCAGAGAGCAGAATGTGTGAGGGAGTGAACCAAGCAGAGGTCTCAGGCAGAAGGAACAGTCAAGAGCAGGATTATGTTGTTGTTTTATTTATTGGAGCTTTCTTTTTTTTTTTTTTTTGGAGACAGAGGCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGCCGCAATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGCGATTCTCCAACCTCAGCCTCCTGAGTAGCTAGGACTACAGGTGCACGCCACCATGCCTGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCGTTGTTGCCCAGGCTGGTCTGTTGGAGCTTTGTTATAGTATACTTTACCATGATTCATTGAGAAGTTCTCTCCCACCCCACCTCGACCCCACTACCCCTGGCCAGTGTACTTTCAACTTGGTTGCCTCAAATTTTAATTTAAGGGTTGGGAGATAGGGTAGTGCTGCTAACATGAATCAGTTTTTTTTCCTTGGTGTCACTTCATTCAAATAACTGTGACACTGAGACTATTTTATTTTATTTTGCCTATTCTGCAGACATTGGGTTTGCCTATCACAGATGAACAAATCCAGGAGATGAAATCAAACCTGGAGAACATCGACTTCAAGATGGCAGCTGAGGAAGAGAAACGTTTACGACATGATGTGATGGCTCACGTGCACACATTTGGCCACTGCTGTCCAAAAGCTGCAGGCATTATTCACCTTGGTGCTACTTCTTGCCATGTTGGAGACAATACTGTAGGCGCCTGTGTTGTTTATACTTAAAACTCAGTCTCTAGAATCTATTTGTCAATTTTATTTGATGTTGTCCAGTTGAGGAAGTGACACTATAGATCTTTTTTTTTTTTTTGAGGCAGAGTCTCCCTCTGTCTCCCAGACTGGAGTGCAGTGGCACGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACACTCGGCTAATTTTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCTATCTCCTGACCTCGTGATCCACCCCCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAGATCTTTATTTTTAAAGGTATCTTGGTTGAAAACGCTGAGGAATTTTTTCAGCTTTTAGTGTGCTTCCAATCTAAACTGTAAGCACCAAATGACCTCTATAAAATAAGACCTACAGATCCTGCTTATGCATTGGTTTGCTGGATGTAAGCCAAGGCCTTAGCATTTTAATGGCTGAGGTAATTTTTCAAAGGAATTTTTTTTTTTTCTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCGGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAATTGATTCCTGTGTCTCGGCCTCCCCAGTAGCTGGGATTCCACGCGCCTGCCACCACGCCGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGTTTTGCCATGTTGGTCAGGCTGGTCTTGAACTCCTAGCCTCAGGTTATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGAGTGCTGAGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAAAGGACTTGTGAAATCCTTTGAAGACCTTTGAAGGACTCTGAAGTCCTTCAAAGACCCTGTCTCAAAAAAAATACTTTGAGACAGGGTCTCGCTTCTGTCACCTAGGCTGGAGTGCAGTGACACGAACATGGCTCACTGCAGCCTTGACCTTCTGGGCTCAAGTGATTCTCCCACCTCGGGCTCCTGAGTAGCTGGGACCACAGGCATGTGCCACTGCACCAGGCTAATTAAAAAAAAATTTTTTTTTTTTTTGGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCGCCTGCCGCCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCAGACGATCTACCCTCCTCAGCCCCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCACGCCTGGCAAATTTTTAAAATATTTATAGGGACAGTGTTTCACCATGCTGCCCAGAATGGCCTTGAACTCCTGTGTTCAAACAGTCCTCCTGCCTTAGCCTCCCAAAGTCCTGGGATTACAGGAGTGAGCCAGCGTACCTGGCCTAGCTTGTGCTCTTAATCAGAGTATACCCATGGAGGTTGAAGTTAGATTCCAGATAAACGTCCAATTTGAGAATAAGCCAGTAATTTTTAAGTTGCCTCAAATGCTTTCTTATTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTCTCCTGCCTCAGCCTTCCAAGTAGCTAGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCCCCTGGCCTCCAAATGCTTTCTTTAGTCTTAAATGAAACATAATTAAAGGCATCTTTGTGTAACTGGCGAGTCAGATAGTGGGAGAAGAACAGTCTTCTTACTTGGAAAATCCTTTAAAAA 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Task1_train_28846 | A variant has been detected on Chromosome 22 in ADSL (adenylosuccinate lyase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Adenylosuccinate lyase deficiency | AGTGGCTTGATTTGGGCTTTTTTTTTTTTTTTTTTTTTTTGACATGGAGTTTCGCTTTTGTCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACCGCAGCCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCGAGTAGCTAGGATTACAGGCATGCACCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCTGTGTTGGTCAGGCTGGTCTCAAACTCCCGATCTCAGGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCATGGCACCCTACTTTGATTTAGGCTTAATGCTGGAAACAAAGCCATTAGCTGCTGTGTTTGAGTCCTCTGGTTATGTGTGTTGTGTAGCTGTTCTCCATAGCATGACTATTCCTCACTGGATCTTGACTCCTCACAAAGGCTTTCCTCTACTTCCAATCTAGAGCAGCCATCACCATTACCTTCATCGTTCTTTTATTCTTTTAGCACTTAAAATCTCAATAATTAATCTTGTTTCTTTTTTTTCATTTGTTTTTTTGAGACAGAATCTGGCTGTGTCGCCCAGTGCGGTGTCACAGTCTCGGCTCATTGCAACCTCTGCCTCTCAGGTTCGAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAACACCCGCCACCACGCCCAGTTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTTACCTGTCTCTGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCCCCCGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCTGGCCTAATCTTGTTTTGTTTTCTTTTTTTACTCGTTTACAATGTAAGCAAGTGCCACTGGACAAGGACCCTGTCTGTGTTATTCCTTGTTGTATTTCCAATAGTAAGAGTACATCAGATACTTGGCAAATATTACACGAGTATCTAATGTATTTCTTACCAATGTCTGTGGATATAGCCATGAACAAAAGGGACATTGTCCCTGCCCTTATAATAAATTGTCTCTTGCCGTGCATCACAGTGGTTCATGCCTGTAATCCCAACACTTTGGAAGGCTGAAGTAGGTGGATCGCTTGAGACATAGAGTTTGAGACCAGCCTGAGCAACAAAGTGAGACCCCGTCACTACAAAAAATTTAAAAATTAGCCAGGCATGGTATTGCATGCCTGTGGTCCCAGCTACATGGAAGGCTGAGGCAGAAGGATCACTTGAGCTCCAGAGGTCGAGGCTACAGTCAGCTATGTTCATGCCACTGCACTTCAGCTTGGGCAACAGAGCAAGACCCAGTCTAGAAATAATAATAATTTAAAAATTGCCTCTTGATGAAGAAAGTACTATGCTAATCGCCTTTTAGTTTCATACTCCTTGACTATTTGTAAATGACATTGAATCTCCGTAACGATTATTTGGTTAAACATTTTATCTCTTGTTTTATCTTTACCAGTTACTCCCTCTCTTACTTAAATTGTTCTCCCTCCAAGGGGTAATGGTGGTTATTAAAAGAAGCAATGAAACCTTGATGATTTAAGGTCTCGGTCTGAGACTTTCGTGTGTTCTCTTTGGGTTTTCAGGCCTGCACAGCTGACCACAGTTGGGAAACGTTGCTGTCTTTGGATTCAGGATCTTTGCATGGATCTCCAGAACTTGAAGCGTGTCCGAGATGACCTGCGCTTCCGGGGAGTAAAGGGTACCACTGGCACTCAGGCCAGTTTCCTGCAGCTCTTTGAGGGAGATGACCATAAGGTATTCTGAAAGTGACCTGCAGGACACAGAAACTCAATGGTGGAGCCTAAGAGACAAGGCTGCCTTTGAGGATGATAGGAGAGATTGACTGTGGGATGGGTGGGGTCTTTCGACTAGAAGGAAGTTGTGGGGGTTAGGGAGCGAGACCTGGGTAGGATGACAGGTTGAGGCATTCTCACACTGGACACATGGATTATTATAAGGATGTGTCTTTTCTTTCCAAGGTAGAGCAGCTTGACAAGATGGTGACAGAAAAGGCAGGATTTAAGAGGTAGGTAAATGGGAATGTGTTGGCCTCCCTGTTAAGTTGATGGAAGTCCTATATTCAGTATACCTGCAGATTTGACCTTACAATTTTTGCCTTTTTCTTCCTTTGTTCTTCTACCCATTTTTTTTTTTCCTGTCTCTATCCTGGGTTTTACTTTCTTACTATCTGGATTCTTTTTTTTTTTTTTTTTTTTTCGCCTAATCGTCTTGCTGACATATTTTCTGGATTTCATTTTATTTTATTATTGTTTTTGAGACAGGGTCTTACTCTGTCACCCAGGCTGGAGTGCAGCGGTGTGATCTCGGCTCACGGCAGCCTCCGCCTCCCAGTTTCAAGCAGTCCTTCCACCTAAGCCCCCTGTGACTACAGGCATGCCTGGCTAATTTTTGTATTGTTTTTGTATAATTTTTGTATTGTTTTGTAGAGACCATGTTGCCCAGGCTGGTCTCCAACTCCTGAGATCAAGCGATCCACCTGCCTCAGCCTCAAAGTGCTAGGATTATAGGCATGAGCCACCATGCCTGACCTGCATTCTCTTTTTGTATAATCTATAGGAAAAAAGAAAATGATTTACTTCTGGTTTCTTTAGAATACCTTTATCCATGTTGTTACCATTTTTGTTTCTTTACTTAGGGCCCCCAACAGGTTAGGCTAAATCTGACCATTTCCATTGAGGTCCACCAGGTTCCACCATGGCTCCTTCTCCCAGGCATTTCTATTGGGCTGTGGCCAGACATGGGCACGTTGCACCATGTATCCTTCTTGAGTCAGGCCATTGTCCTGAGTATTAGTGAAAAGGGTGGAAGAATAGTTTATTCCAGGAGCAAGTTACCACTCAGGTCCACTGGTTGAGTATAACTTAGCATACCAATAAGACCAAGCTTTTCTTTAGGATGTGTTTTTCCTTGTTTGACAGAGTCATGTTTTGAATTATTATTATTTTATAAGAGTCTCCCAGTGATGCTTAGGCTGGCCTTAACCTCCTGAGTTAAAGCAGTCCTCCTCCGTTAGCCTCCTAAGTAGCTGGGACTACAGTCATGCACCACTGCAATGGCTTTAAAATATTTTAACCTAAGTCTCTCTTGTACTTATTCCTAGAGCTTTCATCATCACAGGGCAGACATATACACGAAAAGTGGATATTGAAGTACTGTCTGTGCTGGCTAGCTTGGGGGCATCAGTGCACAAGGTGAGTGGTGGCAGCATGTGGGGTGGGGACAGGAGCTTTGGGCACCACAGACAGACTGAATTAACCTCAGACTTTTACTTAACCATCTCTCTCAAGCAATATTTTACATTAGTTTTAATAATTTGTGGTCTGTAAATGAAACCCTTAAGGGGAAGACTCGTTTTGGCATTTTCTTTAAAGTTATCTCAAGCACTGCAAAACATCCATCTTGTTCAGTGGTATATTAAATTAATCTTTTTTTTTTTTCGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCGAGCGAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACAATGTCTGGCTAATTTTAGTAGAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCGCGCCCATCCTGAATTAATCTTGTGATTTTCTTTCCATGATGCCTTAAGCAGTGTTTCACAAAAGCGTTTTCATGCTCCTTGAATTTGTCATCCCAGTCCTTCGGGAACAGAGAGGAGTCGGAGTAAGATACTCTGCAGGAGCTCTTTGGGAGGATGCGCTGGTCTTCAGCTCAGCCACAGCACACCTAAGAGCTCATCTCCTTCATCAGCCTAGTCACAGCTCCCAGACTCTACTGCACACTGACAGTGTGGGGTGATGCTTATTCCCCTACCTCCCCCAGATTTGCACCGACATACGCCTCCTGGCAAACCTCAAGGAGATGGAGGAACCCTTT 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AGTGGCTTGATTTGGGCTTTTTTTTTTTTTTTTTTTTTTTGACATGGAGTTTCGCTTTTGTCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACCGCAGCCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCGAGTAGCTAGGATTACAGGCATGCACCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCTGTGTTGGTCAGGCTGGTCTCAAACTCCCGATCTCAGGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCATGGCACCCTACTTTGATTTAGGCTTAATGCTGGAAACAAAGCCATTAGCTGCTGTGTTTGAGTCCTCTGGTTATGTGTGTTGTGTAGCTGTTCTCCATAGCATGACTATTCCTCACTGGATCTTGACTCCTCACAAAGGCTTTCCTCTACTTCCAATCTAGAGCAGCCATCACCATTACCTTCATCGTTCTTTTATTCTTTTAGCACTTAAAATCTCAATAATTAATCTTGTTTCTTTTTTTTCATTTGTTTTTTTGAGACAGAATCTGGCTGTGTCGCCCAGTGCGGTGTCACAGTCTCGGCTCATTGCAACCTCTGCCTCTCAGGTTCGAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAACACCCGCCACCACGCCCAGTTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTTACCTGTCTCTGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCCCCCGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCTGGCCTAATCTTGTTTTGTTTTCTTTTTTTACTCGTTTACAATGTAAGCAAGTGCCACTGGACAAGGACCCTGTCTGTGTTATTCCTTGTTGTATTTCCAATAGTAAGAGTACATCAGATACTTGGCAAATATTACACGAGTATCTAATGTATTTCTTACCAATGTCTGTGGATATAGCCATGAACAAAAGGGACATTGTCCCTGCCCTTATAATAAATTGTCTCTTGCCGTGCATCACAGTGGTTCATGCCTGTAATCCCAACACTTTGGAAGGCTGAAGTAGGTGGATCGCTTGAGACATAGAGTTTGAGACCAGCCTGAGCAACAAAGTGAGACCCCGTCACTACAAAAAATTTAAAAATTAGCCAGGCATGGTATTGCATGCCTGTGGTCCCAGCTACATGGAAGGCTGAGGCAGAAGGATCACTTGAGCTCCAGAGGTCGAGGCTACAGTCAGCTATGTTCATGCCACTGCACTTCAGCTTGGGCAACAGAGCAAGACCCAGTCTAGAAATAATAATAATTTAAAAATTGCCTCTTGATGAAGAAAGTACTATGCTAATCGCCTTTTAGTTTCATACTCCTTGACTATTTGTAAATGACATTGAATCTCCGTAACGATTATTTGGTTAAACATTTTATCTCTTGTTTTATCTTTACCAGTTACTCCCTCTCTTACTTAAATTGTTCTCCCTCCAAGGGGTAATGGTGGTTATTAAAAGAAGCAATGAAACCTTGATGATTTAAGGTCTCGGTCTGAGACTTTCGTGTGTTCTCTTTGGGTTTTCAGGCCTGCACAGCTGACCACAGTTGGGAAACGTTGCTGTCTTTGGATTCAGGATCTTTGCATGGATCTCCAGAACTTGAAGCGTGTCCGAGATGACCTGCGCTTCCGGGGAGTAAAGGGTACCACTGGCACTCAGGCCAGTTTCCTGCAGCTCTTTGAGGGAGATGACCATAAGGTATTCTGAAAGTGACCTGCAGGACACAGAAACTCAATGGTGGAGCCTAAGAGACAAGGCTGCCTTTGAGGATGATAGGAGAGATTGACTGTGGGATGGGTGGGGTCTTTCGACTAGAAGGAAGTTGTGGGGGTTAGGGAGCGAGACCTGGGTAGGATGACAGGTTGAGGCATTCTCACACTGGACACATGGATTATTATAAGGATGTGTCTTTTCTTTCCAAGGTAGAGCAGCTTGACAAGACGGTGACAGAAAAGGCAGGATTTAAGAGGTAGGTAAATGGGAATGTGTTGGCCTCCCTGTTAAGTTGATGGAAGTCCTATATTCAGTATACCTGCAGATTTGACCTTACAATTTTTGCCTTTTTCTTCCTTTGTTCTTCTACCCATTTTTTTTTTTCCTGTCTCTATCCTGGGTTTTACTTTCTTACTATCTGGATTCTTTTTTTTTTTTTTTTTTTTTCGCCTAATCGTCTTGCTGACATATTTTCTGGATTTCATTTTATTTTATTATTGTTTTTGAGACAGGGTCTTACTCTGTCACCCAGGCTGGAGTGCAGCGGTGTGATCTCGGCTCACGGCAGCCTCCGCCTCCCAGTTTCAAGCAGTCCTTCCACCTAAGCCCCCTGTGACTACAGGCATGCCTGGCTAATTTTTGTATTGTTTTTGTATAATTTTTGTATTGTTTTGTAGAGACCATGTTGCCCAGGCTGGTCTCCAACTCCTGAGATCAAGCGATCCACCTGCCTCAGCCTCAAAGTGCTAGGATTATAGGCATGAGCCACCATGCCTGACCTGCATTCTCTTTTTGTATAATCTATAGGAAAAAAGAAAATGATTTACTTCTGGTTTCTTTAGAATACCTTTATCCATGTTGTTACCATTTTTGTTTCTTTACTTAGGGCCCCCAACAGGTTAGGCTAAATCTGACCATTTCCATTGAGGTCCACCAGGTTCCACCATGGCTCCTTCTCCCAGGCATTTCTATTGGGCTGTGGCCAGACATGGGCACGTTGCACCATGTATCCTTCTTGAGTCAGGCCATTGTCCTGAGTATTAGTGAAAAGGGTGGAAGAATAGTTTATTCCAGGAGCAAGTTACCACTCAGGTCCACTGGTTGAGTATAACTTAGCATACCAATAAGACCAAGCTTTTCTTTAGGATGTGTTTTTCCTTGTTTGACAGAGTCATGTTTTGAATTATTATTATTTTATAAGAGTCTCCCAGTGATGCTTAGGCTGGCCTTAACCTCCTGAGTTAAAGCAGTCCTCCTCCGTTAGCCTCCTAAGTAGCTGGGACTACAGTCATGCACCACTGCAATGGCTTTAAAATATTTTAACCTAAGTCTCTCTTGTACTTATTCCTAGAGCTTTCATCATCACAGGGCAGACATATACACGAAAAGTGGATATTGAAGTACTGTCTGTGCTGGCTAGCTTGGGGGCATCAGTGCACAAGGTGAGTGGTGGCAGCATGTGGGGTGGGGACAGGAGCTTTGGGCACCACAGACAGACTGAATTAACCTCAGACTTTTACTTAACCATCTCTCTCAAGCAATATTTTACATTAGTTTTAATAATTTGTGGTCTGTAAATGAAACCCTTAAGGGGAAGACTCGTTTTGGCATTTTCTTTAAAGTTATCTCAAGCACTGCAAAACATCCATCTTGTTCAGTGGTATATTAAATTAATCTTTTTTTTTTTTCGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCGAGCGAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACAATGTCTGGCTAATTTTAGTAGAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCGCGCCCATCCTGAATTAATCTTGTGATTTTCTTTCCATGATGCCTTAAGCAGTGTTTCACAAAAGCGTTTTCATGCTCCTTGAATTTGTCATCCCAGTCCTTCGGGAACAGAGAGGAGTCGGAGTAAGATACTCTGCAGGAGCTCTTTGGGAGGATGCGCTGGTCTTCAGCTCAGCCACAGCACACCTAAGAGCTCATCTCCTTCATCAGCCTAGTCACAGCTCCCAGACTCTACTGCACACTGACAGTGTGGGGTGATGCTTATTCCCCTACCTCCCCCAGATTTGCACCGACATACGCCTCCTGGCAAACCTCAAGGAGATGGAGGAACCCTTT 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Task1_train_28847 | Given a variant located on Chromosome 22 and affecting ADSL (adenylosuccinate lyase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Adenylosuccinate lyase deficiency | ATAAGGATGTGTCTTTTCTTTCCAAGGTAGAGCAGCTTGACAAGATGGTGACAGAAAAGGCAGGATTTAAGAGGTAGGTAAATGGGAATGTGTTGGCCTCCCTGTTAAGTTGATGGAAGTCCTATATTCAGTATACCTGCAGATTTGACCTTACAATTTTTGCCTTTTTCTTCCTTTGTTCTTCTACCCATTTTTTTTTTTCCTGTCTCTATCCTGGGTTTTACTTTCTTACTATCTGGATTCTTTTTTTTTTTTTTTTTTTTTCGCCTAATCGTCTTGCTGACATATTTTCTGGATTTCATTTTATTTTATTATTGTTTTTGAGACAGGGTCTTACTCTGTCACCCAGGCTGGAGTGCAGCGGTGTGATCTCGGCTCACGGCAGCCTCCGCCTCCCAGTTTCAAGCAGTCCTTCCACCTAAGCCCCCTGTGACTACAGGCATGCCTGGCTAATTTTTGTATTGTTTTTGTATAATTTTTGTATTGTTTTGTAGAGACCATGTTGCCCAGGCTGGTCTCCAACTCCTGAGATCAAGCGATCCACCTGCCTCAGCCTCAAAGTGCTAGGATTATAGGCATGAGCCACCATGCCTGACCTGCATTCTCTTTTTGTATAATCTATAGGAAAAAAGAAAATGATTTACTTCTGGTTTCTTTAGAATACCTTTATCCATGTTGTTACCATTTTTGTTTCTTTACTTAGGGCCCCCAACAGGTTAGGCTAAATCTGACCATTTCCATTGAGGTCCACCAGGTTCCACCATGGCTCCTTCTCCCAGGCATTTCTATTGGGCTGTGGCCAGACATGGGCACGTTGCACCATGTATCCTTCTTGAGTCAGGCCATTGTCCTGAGTATTAGTGAAAAGGGTGGAAGAATAGTTTATTCCAGGAGCAAGTTACCACTCAGGTCCACTGGTTGAGTATAACTTAGCATACCAATAAGACCAAGCTTTTCTTTAGGATGTGTTTTTCCTTGTTTGACAGAGTCATGTTTTGAATTATTATTATTTTATAAGAGTCTCCCAGTGATGCTTAGGCTGGCCTTAACCTCCTGAGTTAAAGCAGTCCTCCTCCGTTAGCCTCCTAAGTAGCTGGGACTACAGTCATGCACCACTGCAATGGCTTTAAAATATTTTAACCTAAGTCTCTCTTGTACTTATTCCTAGAGCTTTCATCATCACAGGGCAGACATATACACGAAAAGTGGATATTGAAGTACTGTCTGTGCTGGCTAGCTTGGGGGCATCAGTGCACAAGGTGAGTGGTGGCAGCATGTGGGGTGGGGACAGGAGCTTTGGGCACCACAGACAGACTGAATTAACCTCAGACTTTTACTTAACCATCTCTCTCAAGCAATATTTTACATTAGTTTTAATAATTTGTGGTCTGTAAATGAAACCCTTAAGGGGAAGACTCGTTTTGGCATTTTCTTTAAAGTTATCTCAAGCACTGCAAAACATCCATCTTGTTCAGTGGTATATTAAATTAATCTTTTTTTTTTTTCGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCGAGCGAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACAATGTCTGGCTAATTTTAGTAGAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCGCGCCCATCCTGAATTAATCTTGTGATTTTCTTTCCATGATGCCTTAAGCAGTGTTTCACAAAAGCGTTTTCATGCTCCTTGAATTTGTCATCCCAGTCCTTCGGGAACAGAGAGGAGTCGGAGTAAGATACTCTGCAGGAGCTCTTTGGGAGGATGCGCTGGTCTTCAGCTCAGCCACAGCACACCTAAGAGCTCATCTCCTTCATCAGCCTAGTCACAGCTCCCAGACTCTACTGCACACTGACAGTGTGGGGTGATGCTTATTCCCCTACCTCCCCCAGATTTGCACCGACATACGCCTCCTGGCAAACCTCAAGGAGATGGAGGAACCCTTTGAAAAACAGCAGATTGGTGAGTGCTGTGTAGAGACCTGTGAGCACACATTGCTGCTGGAAGGCTGTGGATGGGGGCTGAGAGCTCATTCAGCATGCTTGCCTACTCACTATCCTCTGAAGTCTCTCTGCCTTTGCATCTTGTCCTTTTTTTACATGGGCAGGCTCAAGTGCGATGCCATATAAGCGGAATCCCATGCGTTCAGAACGTTGCTGCAGTCTTGCCCGCCACCTGATGACCCTTGTCATGGACCCGCTACAGACAGCATCTGTCCAGTGGTTTGAACGCACACTGGATGATAGTGCCAACCGGTCAGTGGCACAGGGACATCACATACACCAAGTTGAGTGGAGGTCTGAAGGAGGGACCTAGAAGTAAAAGGACATATTTGAGCATCTCTACAGTCTCCTTATCCCCAAGGATCCCAGAGTCTAGCAGGGAGGCAAAAACATAAAAAGGACAGTGTGATAAGTGTTACAATTGGAGTGTGTACTGGGTACTGTGGAGCAAAGAGGAAGGAATAGTGTTTGAGGAGTCAGAAAGCTTCACAGTAGAGGTGATGCCTTAAGACTTAAGAAATACATGCATCTTTTAAAGACAAGATCGGGAGCATTATAAAGGCACAAAGCAGGAGAAAACACACTTGAGGGAGTTACTACTACTTGAGTAGCCCTGGGGAATGAAGTCAACATGTGCCAGGAGGTGGGGCAGGACATGGTCACAGATAGCCAGTTTATGAAAGGTCTTCTGGGTCTTTTCTGAAGGCAGATAGATGTCAGTTGTGGTGTCTAGGCACAATGACATCTTGATTAGTTATGAGATGAGTCAGAAATAATTTGTAACTACTGTTGAGGTGCCAACATGCGCATCATTTTCTGTTTTATGTATATACTCACTTAAAGCAGATTGGCATTACTCTCGCCTGCTCGCATTTTGCTGGAATTTCTTGAGTGGATACGGATGTATAGTTAAACCTAGCTTTCTGGGATCTGTGCATAATCCACGATTTATCTCTGGAAATAAGTCATGTGAACTCATTCAGAAGTCAGCCATTGAATACTTTTTAGCAAGGTGTGACCCTGTAGGTCTGCTGATTTGCCTGCTAAAAGACCCTAGCAACAGTTTGGAGAGTTGGCTGTAAGGAGACAGGGATCATGTCAGAACAAGTTAGGGGCTACTTTAAAAGTCTGAGGCCACATTGGTGCAGTGGCCATGTAAATGGAGAGGAAGGATATAGATCCAGAGTCGAAGGCAGACTGGCCAGCCCAGCCCTGGTGGTTGACCGGAGTGAGTATAAAGAGCTTGGTGAGTGGGGCGCTACTGCCATTTACTGAGGCAGGAGCTACAAGGGAGGAATGGCAGGTATGTAATGGTGAGTAGGAGGAATGAGAAAGTGGCTGAGTTCAGTTTGGGGATTGAGGTACCCATAGATCAACCAGGTGGACGTCTCACTCAGTAGGTATGAGGTCTGGCACTTGAGCAAGTGGTCTGGCCTAGAGGTGACAGATTTGAGGGTCGTGAGGTTATTGGGGTAATCATAAGATTGAAGGAGATTATCCAGAGAGTACAGTCAGTAGGGCAACTTGTTGGGACACACACTGCATTTCACTGAAATTATTTGTTTAAAGACATACTGAATGGCTATTTGTTTTCTAGACGGATCTGTTTGGCCGAGGCATTTCTTACCGCAGATACTATATTGAATACGCTGCAGAACATTTCTGAAGGATTGGTCGTGTACCCCAAAGTAAGAAGCCTCAATTCAAAAGTAAAGTACTAGGGAGGGGTTAGAATGTGGGAGGGAGGGTGCTCTGGGGTGTGTTGAGGGAGCTGTATTCTGATCCGATAGGCATTCTTCCCACCCGAGCTCATCCTTCAGTTCATAAGCTCTAGGGAACTAGCTCTGTGGAATTCATAGACACATTATAGAAACAGAAAAAGAAGTATTTTAAATTGCCTTAAACTATCTAGCAGCATGAATCATCAGCTCTGGTGTGACTAGGCA 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ATAAGGATGTGTCTTTTCTTTCCAAGGTAGAGCAGCTTGACAAGATGGTGACAGAAAAGGCAGGATTTAAGAGGTAGGTAAATGGGAATGTGTTGGCCTCCCTGTTAAGTTGATGGAAGTCCTATATTCAGTATACCTGCAGATTTGACCTTACAATTTTTGCCTTTTTCTTCCTTTGTTCTTCTACCCATTTTTTTTTTTCCTGTCTCTATCCTGGGTTTTACTTTCTTACTATCTGGATTCTTTTTTTTTTTTTTTTTTTTTCGCCTAATCGTCTTGCTGACATATTTTCTGGATTTCATTTTATTTTATTATTGTTTTTGAGACAGGGTCTTACTCTGTCACCCAGGCTGGAGTGCAGCGGTGTGATCTCGGCTCACGGCAGCCTCCGCCTCCCAGTTTCAAGCAGTCCTTCCACCTAAGCCCCCTGTGACTACAGGCATGCCTGGCTAATTTTTGTATTGTTTTTGTATAATTTTTGTATTGTTTTGTAGAGACCATGTTGCCCAGGCTGGTCTCCAACTCCTGAGATCAAGCGATCCACCTGCCTCAGCCTCAAAGTGCTAGGATTATAGGCATGAGCCACCATGCCTGACCTGCATTCTCTTTTTGTATAATCTATAGGAAAAAAGAAAATGATTTACTTCTGGTTTCTTTAGAATACCTTTATCCATGTTGTTACCATTTTTGTTTCTTTACTTAGGGCCCCCAACAGGTTAGGCTAAATCTGACCATTTCCATTGAGGTCCACCAGGTTCCACCATGGCTCCTTCTCCCAGGCATTTCTATTGGGCTGTGGCCAGACATGGGCACGTTGCACCATGTATCCTTCTTGAGTCAGGCCATTGTCCTGAGTATTAGTGAAAAGGGTGGAAGAATAGTTTATTCCAGGAGCAAGTTACCACTCAGGTCCACTGGTTGAGTATAACTTAGCATACCAATAAGACCAAGCTTTTCTTTAGGATGTGTTTTTCCTTGTTTGACAGAGTCATGTTTTGAATTATTATTATTTTATAAGAGTCTCCCAGTGATGCTTAGGCTGGCCTTAACCTCCTGAGTTAAAGCAGTCCTCCTCCGTTAGCCTCCTAAGTAGCTGGGACTACAGTCATGCACCACTGCAATGGCTTTAAAATATTTTAACCTAAGTCTCTCTTGTACTTATTCCTAGAGCTTTCATCATCACAGGGCAGACATATACACGAAAAGTGGATATTGAAGTACTGTCTGTGCTGGCTAGCTTGGGGGCATCAGTGCACAAGGTGAGTGGTGGCAGCATGTGGGGTGGGGACAGGAGCTTTGGGCACCACAGACAGACTGAATTAACCTCAGACTTTTACTTAACCATCTCTCTCAAGCAATATTTTACATTAGTTTTAATAATTTGTGGTCTGTAAATGAAACCCTTAAGGGGAAGACTCGTTTTGGCATTTTCTTTAAAGTTATCTCAAGCACTGCAAAACATCCATCTTGTTCAGTGGTATATTAAATTAATCTTTTTTTTTTTTCGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCGAGCGAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACAATGTCTGGCTAATTTTAGTAGAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCGCGCCCATCCTGAATTAATCTTGTGATTTTCTTTCCATGATGCCTTAAGCAGTGTTTCACAAAAGCGTTTTCATGCTCCTTGAATTTGTCATCCCAGTCCTTCGGGAACAGAGAGGAGTCGGAGTAAGATACTCTGCAGGAGCTCTTTGGGAGGATGCGCTGGTCTTCAGCTCAGCCACAGCACACCTAAGAGCTCATCTCCTTCATCAGCCTAGTCACAGCTCCCAGACTCTACTGCACACTGACAGTGTGGGGTGATGCTTATTCCCCTACCTCCCCCAGATTTGCACCAACATACGCCTCCTGGCAAACCTCAAGGAGATGGAGGAACCCTTTGAAAAACAGCAGATTGGTGAGTGCTGTGTAGAGACCTGTGAGCACACATTGCTGCTGGAAGGCTGTGGATGGGGGCTGAGAGCTCATTCAGCATGCTTGCCTACTCACTATCCTCTGAAGTCTCTCTGCCTTTGCATCTTGTCCTTTTTTTACATGGGCAGGCTCAAGTGCGATGCCATATAAGCGGAATCCCATGCGTTCAGAACGTTGCTGCAGTCTTGCCCGCCACCTGATGACCCTTGTCATGGACCCGCTACAGACAGCATCTGTCCAGTGGTTTGAACGCACACTGGATGATAGTGCCAACCGGTCAGTGGCACAGGGACATCACATACACCAAGTTGAGTGGAGGTCTGAAGGAGGGACCTAGAAGTAAAAGGACATATTTGAGCATCTCTACAGTCTCCTTATCCCCAAGGATCCCAGAGTCTAGCAGGGAGGCAAAAACATAAAAAGGACAGTGTGATAAGTGTTACAATTGGAGTGTGTACTGGGTACTGTGGAGCAAAGAGGAAGGAATAGTGTTTGAGGAGTCAGAAAGCTTCACAGTAGAGGTGATGCCTTAAGACTTAAGAAATACATGCATCTTTTAAAGACAAGATCGGGAGCATTATAAAGGCACAAAGCAGGAGAAAACACACTTGAGGGAGTTACTACTACTTGAGTAGCCCTGGGGAATGAAGTCAACATGTGCCAGGAGGTGGGGCAGGACATGGTCACAGATAGCCAGTTTATGAAAGGTCTTCTGGGTCTTTTCTGAAGGCAGATAGATGTCAGTTGTGGTGTCTAGGCACAATGACATCTTGATTAGTTATGAGATGAGTCAGAAATAATTTGTAACTACTGTTGAGGTGCCAACATGCGCATCATTTTCTGTTTTATGTATATACTCACTTAAAGCAGATTGGCATTACTCTCGCCTGCTCGCATTTTGCTGGAATTTCTTGAGTGGATACGGATGTATAGTTAAACCTAGCTTTCTGGGATCTGTGCATAATCCACGATTTATCTCTGGAAATAAGTCATGTGAACTCATTCAGAAGTCAGCCATTGAATACTTTTTAGCAAGGTGTGACCCTGTAGGTCTGCTGATTTGCCTGCTAAAAGACCCTAGCAACAGTTTGGAGAGTTGGCTGTAAGGAGACAGGGATCATGTCAGAACAAGTTAGGGGCTACTTTAAAAGTCTGAGGCCACATTGGTGCAGTGGCCATGTAAATGGAGAGGAAGGATATAGATCCAGAGTCGAAGGCAGACTGGCCAGCCCAGCCCTGGTGGTTGACCGGAGTGAGTATAAAGAGCTTGGTGAGTGGGGCGCTACTGCCATTTACTGAGGCAGGAGCTACAAGGGAGGAATGGCAGGTATGTAATGGTGAGTAGGAGGAATGAGAAAGTGGCTGAGTTCAGTTTGGGGATTGAGGTACCCATAGATCAACCAGGTGGACGTCTCACTCAGTAGGTATGAGGTCTGGCACTTGAGCAAGTGGTCTGGCCTAGAGGTGACAGATTTGAGGGTCGTGAGGTTATTGGGGTAATCATAAGATTGAAGGAGATTATCCAGAGAGTACAGTCAGTAGGGCAACTTGTTGGGACACACACTGCATTTCACTGAAATTATTTGTTTAAAGACATACTGAATGGCTATTTGTTTTCTAGACGGATCTGTTTGGCCGAGGCATTTCTTACCGCAGATACTATATTGAATACGCTGCAGAACATTTCTGAAGGATTGGTCGTGTACCCCAAAGTAAGAAGCCTCAATTCAAAAGTAAAGTACTAGGGAGGGGTTAGAATGTGGGAGGGAGGGTGCTCTGGGGTGTGTTGAGGGAGCTGTATTCTGATCCGATAGGCATTCTTCCCACCCGAGCTCATCCTTCAGTTCATAAGCTCTAGGGAACTAGCTCTGTGGAATTCATAGACACATTATAGAAACAGAAAAAGAAGTATTTTAAATTGCCTTAAACTATCTAGCAGCATGAATCATCAGCTCTGGTGTGACTAGGCA 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Task1_train_28848 | An alteration has been detected in ADSL (adenylosuccinate lyase) on Chromosome 22. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Adenylosuccinate lyase deficiency | ATAAGGATGTGTCTTTTCTTTCCAAGGTAGAGCAGCTTGACAAGATGGTGACAGAAAAGGCAGGATTTAAGAGGTAGGTAAATGGGAATGTGTTGGCCTCCCTGTTAAGTTGATGGAAGTCCTATATTCAGTATACCTGCAGATTTGACCTTACAATTTTTGCCTTTTTCTTCCTTTGTTCTTCTACCCATTTTTTTTTTTCCTGTCTCTATCCTGGGTTTTACTTTCTTACTATCTGGATTCTTTTTTTTTTTTTTTTTTTTTCGCCTAATCGTCTTGCTGACATATTTTCTGGATTTCATTTTATTTTATTATTGTTTTTGAGACAGGGTCTTACTCTGTCACCCAGGCTGGAGTGCAGCGGTGTGATCTCGGCTCACGGCAGCCTCCGCCTCCCAGTTTCAAGCAGTCCTTCCACCTAAGCCCCCTGTGACTACAGGCATGCCTGGCTAATTTTTGTATTGTTTTTGTATAATTTTTGTATTGTTTTGTAGAGACCATGTTGCCCAGGCTGGTCTCCAACTCCTGAGATCAAGCGATCCACCTGCCTCAGCCTCAAAGTGCTAGGATTATAGGCATGAGCCACCATGCCTGACCTGCATTCTCTTTTTGTATAATCTATAGGAAAAAAGAAAATGATTTACTTCTGGTTTCTTTAGAATACCTTTATCCATGTTGTTACCATTTTTGTTTCTTTACTTAGGGCCCCCAACAGGTTAGGCTAAATCTGACCATTTCCATTGAGGTCCACCAGGTTCCACCATGGCTCCTTCTCCCAGGCATTTCTATTGGGCTGTGGCCAGACATGGGCACGTTGCACCATGTATCCTTCTTGAGTCAGGCCATTGTCCTGAGTATTAGTGAAAAGGGTGGAAGAATAGTTTATTCCAGGAGCAAGTTACCACTCAGGTCCACTGGTTGAGTATAACTTAGCATACCAATAAGACCAAGCTTTTCTTTAGGATGTGTTTTTCCTTGTTTGACAGAGTCATGTTTTGAATTATTATTATTTTATAAGAGTCTCCCAGTGATGCTTAGGCTGGCCTTAACCTCCTGAGTTAAAGCAGTCCTCCTCCGTTAGCCTCCTAAGTAGCTGGGACTACAGTCATGCACCACTGCAATGGCTTTAAAATATTTTAACCTAAGTCTCTCTTGTACTTATTCCTAGAGCTTTCATCATCACAGGGCAGACATATACACGAAAAGTGGATATTGAAGTACTGTCTGTGCTGGCTAGCTTGGGGGCATCAGTGCACAAGGTGAGTGGTGGCAGCATGTGGGGTGGGGACAGGAGCTTTGGGCACCACAGACAGACTGAATTAACCTCAGACTTTTACTTAACCATCTCTCTCAAGCAATATTTTACATTAGTTTTAATAATTTGTGGTCTGTAAATGAAACCCTTAAGGGGAAGACTCGTTTTGGCATTTTCTTTAAAGTTATCTCAAGCACTGCAAAACATCCATCTTGTTCAGTGGTATATTAAATTAATCTTTTTTTTTTTTCGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCGAGCGAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACAATGTCTGGCTAATTTTAGTAGAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCGCGCCCATCCTGAATTAATCTTGTGATTTTCTTTCCATGATGCCTTAAGCAGTGTTTCACAAAAGCGTTTTCATGCTCCTTGAATTTGTCATCCCAGTCCTTCGGGAACAGAGAGGAGTCGGAGTAAGATACTCTGCAGGAGCTCTTTGGGAGGATGCGCTGGTCTTCAGCTCAGCCACAGCACACCTAAGAGCTCATCTCCTTCATCAGCCTAGTCACAGCTCCCAGACTCTACTGCACACTGACAGTGTGGGGTGATGCTTATTCCCCTACCTCCCCCAGATTTGCACCGACATACGCCTCCTGGCAAACCTCAAGGAGATGGAGGAACCCTTTGAAAAACAGCAGATTGGTGAGTGCTGTGTAGAGACCTGTGAGCACACATTGCTGCTGGAAGGCTGTGGATGGGGGCTGAGAGCTCATTCAGCATGCTTGCCTACTCACTATCCTCTGAAGTCTCTCTGCCTTTGCATCTTGTCCTTTTTTTACATGGGCAGGCTCAAGTGCGATGCCATATAAGCGGAATCCCATGCGTTCAGAACGTTGCTGCAGTCTTGCCCGCCACCTGATGACCCTTGTCATGGACCCGCTACAGACAGCATCTGTCCAGTGGTTTGAACGCACACTGGATGATAGTGCCAACCGGTCAGTGGCACAGGGACATCACATACACCAAGTTGAGTGGAGGTCTGAAGGAGGGACCTAGAAGTAAAAGGACATATTTGAGCATCTCTACAGTCTCCTTATCCCCAAGGATCCCAGAGTCTAGCAGGGAGGCAAAAACATAAAAAGGACAGTGTGATAAGTGTTACAATTGGAGTGTGTACTGGGTACTGTGGAGCAAAGAGGAAGGAATAGTGTTTGAGGAGTCAGAAAGCTTCACAGTAGAGGTGATGCCTTAAGACTTAAGAAATACATGCATCTTTTAAAGACAAGATCGGGAGCATTATAAAGGCACAAAGCAGGAGAAAACACACTTGAGGGAGTTACTACTACTTGAGTAGCCCTGGGGAATGAAGTCAACATGTGCCAGGAGGTGGGGCAGGACATGGTCACAGATAGCCAGTTTATGAAAGGTCTTCTGGGTCTTTTCTGAAGGCAGATAGATGTCAGTTGTGGTGTCTAGGCACAATGACATCTTGATTAGTTATGAGATGAGTCAGAAATAATTTGTAACTACTGTTGAGGTGCCAACATGCGCATCATTTTCTGTTTTATGTATATACTCACTTAAAGCAGATTGGCATTACTCTCGCCTGCTCGCATTTTGCTGGAATTTCTTGAGTGGATACGGATGTATAGTTAAACCTAGCTTTCTGGGATCTGTGCATAATCCACGATTTATCTCTGGAAATAAGTCATGTGAACTCATTCAGAAGTCAGCCATTGAATACTTTTTAGCAAGGTGTGACCCTGTAGGTCTGCTGATTTGCCTGCTAAAAGACCCTAGCAACAGTTTGGAGAGTTGGCTGTAAGGAGACAGGGATCATGTCAGAACAAGTTAGGGGCTACTTTAAAAGTCTGAGGCCACATTGGTGCAGTGGCCATGTAAATGGAGAGGAAGGATATAGATCCAGAGTCGAAGGCAGACTGGCCAGCCCAGCCCTGGTGGTTGACCGGAGTGAGTATAAAGAGCTTGGTGAGTGGGGCGCTACTGCCATTTACTGAGGCAGGAGCTACAAGGGAGGAATGGCAGGTATGTAATGGTGAGTAGGAGGAATGAGAAAGTGGCTGAGTTCAGTTTGGGGATTGAGGTACCCATAGATCAACCAGGTGGACGTCTCACTCAGTAGGTATGAGGTCTGGCACTTGAGCAAGTGGTCTGGCCTAGAGGTGACAGATTTGAGGGTCGTGAGGTTATTGGGGTAATCATAAGATTGAAGGAGATTATCCAGAGAGTACAGTCAGTAGGGCAACTTGTTGGGACACACACTGCATTTCACTGAAATTATTTGTTTAAAGACATACTGAATGGCTATTTGTTTTCTAGACGGATCTGTTTGGCCGAGGCATTTCTTACCGCAGATACTATATTGAATACGCTGCAGAACATTTCTGAAGGATTGGTCGTGTACCCCAAAGTAAGAAGCCTCAATTCAAAAGTAAAGTACTAGGGAGGGGTTAGAATGTGGGAGGGAGGGTGCTCTGGGGTGTGTTGAGGGAGCTGTATTCTGATCCGATAGGCATTCTTCCCACCCGAGCTCATCCTTCAGTTCATAAGCTCTAGGGAACTAGCTCTGTGGAATTCATAGACACATTATAGAAACAGAAAAAGAAGTATTTTAAATTGCCTTAAACTATCTAGCAGCATGAATCATCAGCTCTGGTGTGACTAGGCA | ATAAGGATGTGTCTTTTCTTTCCAAGGTAGAGCAGCTTGACAAGATGGTGACAGAAAAGGCAGGATTTAAGAGGTAGGTAAATGGGAATGTGTTGGCCTCCCTGTTAAGTTGATGGAAGTCCTATATTCAGTATACCTGCAGATTTGACCTTACAATTTTTGCCTTTTTCTTCCTTTGTTCTTCTACCCATTTTTTTTTTTCCTGTCTCTATCCTGGGTTTTACTTTCTTACTATCTGGATTCTTTTTTTTTTTTTTTTTTTTTCGCCTAATCGTCTTGCTGACATATTTTCTGGATTTCATTTTATTTTATTATTGTTTTTGAGACAGGGTCTTACTCTGTCACCCAGGCTGGAGTGCAGCGGTGTGATCTCGGCTCACGGCAGCCTCCGCCTCCCAGTTTCAAGCAGTCCTTCCACCTAAGCCCCCTGTGACTACAGGCATGCCTGGCTAATTTTTGTATTGTTTTTGTATAATTTTTGTATTGTTTTGTAGAGACCATGTTGCCCAGGCTGGTCTCCAACTCCTGAGATCAAGCGATCCACCTGCCTCAGCCTCAAAGTGCTAGGATTATAGGCATGAGCCACCATGCCTGACCTGCATTCTCTTTTTGTATAATCTATAGGAAAAAAGAAAATGATTTACTTCTGGTTTCTTTAGAATACCTTTATCCATGTTGTTACCATTTTTGTTTCTTTACTTAGGGCCCCCAACAGGTTAGGCTAAATCTGACCATTTCCATTGAGGTCCACCAGGTTCCACCATGGCTCCTTCTCCCAGGCATTTCTATTGGGCTGTGGCCAGACATGGGCACGTTGCACCATGTATCCTTCTTGAGTCAGGCCATTGTCCTGAGTATTAGTGAAAAGGGTGGAAGAATAGTTTATTCCAGGAGCAAGTTACCACTCAGGTCCACTGGTTGAGTATAACTTAGCATACCAATAAGACCAAGCTTTTCTTTAGGATGTGTTTTTCCTTGTTTGACAGAGTCATGTTTTGAATTATTATTATTTTATAAGAGTCTCCCAGTGATGCTTAGGCTGGCCTTAACCTCCTGAGTTAAAGCAGTCCTCCTCCGTTAGCCTCCTAAGTAGCTGGGACTACAGTCATGCACCACTGCAATGGCTTTAAAATATTTTAACCTAAGTCTCTCTTGTACTTATTCCTAGAGCTTTCATCATCACAGGGCAGACATATACACGAAAAGTGGATATTGAAGTACTGTCTGTGCTGGCTAGCTTGGGGGCATCAGTGCACAAGGTGAGTGGTGGCAGCATGTGGGGTGGGGACAGGAGCTTTGGGCACCACAGACAGACTGAATTAACCTCAGACTTTTACTTAACCATCTCTCTCAAGCAATATTTTACATTAGTTTTAATAATTTGTGGTCTGTAAATGAAACCCTTAAGGGGAAGACTCGTTTTGGCATTTTCTTTAAAGTTATCTCAAGCACTGCAAAACATCCATCTTGTTCAGTGGTATATTAAATTAATCTTTTTTTTTTTTCGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCGAGCGAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACAATGTCTGGCTAATTTTAGTAGAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCGCGCCCATCCTGAATTAATCTTGTGATTTTCTTTCCATGATGCCTTAAGCAGTGTTTCACAAAAGCGTTTTCATGCTCCTTGAATTTGTCATCCCAGTCCTTCGGGAACAGAGAGGAGTCGGAGTAAGATACTCTGCAGGAGCTCTTTGGGAGGATGCGCTGGTCTTCAGCTCAGCCACAGCACACCTAAGAGCTCATCTCCTTCATCAGCCTAGTCACAGCTCCCAGACTCTACTGCACACTGACAGTGTGGGGTGATGCTTATTCCCCTACCTCCCCCAGATTTGCACCCACATACGCCTCCTGGCAAACCTCAAGGAGATGGAGGAACCCTTTGAAAAACAGCAGATTGGTGAGTGCTGTGTAGAGACCTGTGAGCACACATTGCTGCTGGAAGGCTGTGGATGGGGGCTGAGAGCTCATTCAGCATGCTTGCCTACTCACTATCCTCTGAAGTCTCTCTGCCTTTGCATCTTGTCCTTTTTTTACATGGGCAGGCTCAAGTGCGATGCCATATAAGCGGAATCCCATGCGTTCAGAACGTTGCTGCAGTCTTGCCCGCCACCTGATGACCCTTGTCATGGACCCGCTACAGACAGCATCTGTCCAGTGGTTTGAACGCACACTGGATGATAGTGCCAACCGGTCAGTGGCACAGGGACATCACATACACCAAGTTGAGTGGAGGTCTGAAGGAGGGACCTAGAAGTAAAAGGACATATTTGAGCATCTCTACAGTCTCCTTATCCCCAAGGATCCCAGAGTCTAGCAGGGAGGCAAAAACATAAAAAGGACAGTGTGATAAGTGTTACAATTGGAGTGTGTACTGGGTACTGTGGAGCAAAGAGGAAGGAATAGTGTTTGAGGAGTCAGAAAGCTTCACAGTAGAGGTGATGCCTTAAGACTTAAGAAATACATGCATCTTTTAAAGACAAGATCGGGAGCATTATAAAGGCACAAAGCAGGAGAAAACACACTTGAGGGAGTTACTACTACTTGAGTAGCCCTGGGGAATGAAGTCAACATGTGCCAGGAGGTGGGGCAGGACATGGTCACAGATAGCCAGTTTATGAAAGGTCTTCTGGGTCTTTTCTGAAGGCAGATAGATGTCAGTTGTGGTGTCTAGGCACAATGACATCTTGATTAGTTATGAGATGAGTCAGAAATAATTTGTAACTACTGTTGAGGTGCCAACATGCGCATCATTTTCTGTTTTATGTATATACTCACTTAAAGCAGATTGGCATTACTCTCGCCTGCTCGCATTTTGCTGGAATTTCTTGAGTGGATACGGATGTATAGTTAAACCTAGCTTTCTGGGATCTGTGCATAATCCACGATTTATCTCTGGAAATAAGTCATGTGAACTCATTCAGAAGTCAGCCATTGAATACTTTTTAGCAAGGTGTGACCCTGTAGGTCTGCTGATTTGCCTGCTAAAAGACCCTAGCAACAGTTTGGAGAGTTGGCTGTAAGGAGACAGGGATCATGTCAGAACAAGTTAGGGGCTACTTTAAAAGTCTGAGGCCACATTGGTGCAGTGGCCATGTAAATGGAGAGGAAGGATATAGATCCAGAGTCGAAGGCAGACTGGCCAGCCCAGCCCTGGTGGTTGACCGGAGTGAGTATAAAGAGCTTGGTGAGTGGGGCGCTACTGCCATTTACTGAGGCAGGAGCTACAAGGGAGGAATGGCAGGTATGTAATGGTGAGTAGGAGGAATGAGAAAGTGGCTGAGTTCAGTTTGGGGATTGAGGTACCCATAGATCAACCAGGTGGACGTCTCACTCAGTAGGTATGAGGTCTGGCACTTGAGCAAGTGGTCTGGCCTAGAGGTGACAGATTTGAGGGTCGTGAGGTTATTGGGGTAATCATAAGATTGAAGGAGATTATCCAGAGAGTACAGTCAGTAGGGCAACTTGTTGGGACACACACTGCATTTCACTGAAATTATTTGTTTAAAGACATACTGAATGGCTATTTGTTTTCTAGACGGATCTGTTTGGCCGAGGCATTTCTTACCGCAGATACTATATTGAATACGCTGCAGAACATTTCTGAAGGATTGGTCGTGTACCCCAAAGTAAGAAGCCTCAATTCAAAAGTAAAGTACTAGGGAGGGGTTAGAATGTGGGAGGGAGGGTGCTCTGGGGTGTGTTGAGGGAGCTGTATTCTGATCCGATAGGCATTCTTCCCACCCGAGCTCATCCTTCAGTTCATAAGCTCTAGGGAACTAGCTCTGTGGAATTCATAGACACATTATAGAAACAGAAAAAGAAGTATTTTAAATTGCCTTAAACTATCTAGCAGCATGAATCATCAGCTCTGGTGTGACTAGGCA 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Task1_train_28849 | A mutation in ADSL (adenylosuccinate lyase), located on Chromosome 22, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Adenylosuccinate lyase deficiency | ACACACACTGCATTTCACTGAAATTATTTGTTTAAAGACATACTGAATGGCTATTTGTTTTCTAGACGGATCTGTTTGGCCGAGGCATTTCTTACCGCAGATACTATATTGAATACGCTGCAGAACATTTCTGAAGGATTGGTCGTGTACCCCAAAGTAAGAAGCCTCAATTCAAAAGTAAAGTACTAGGGAGGGGTTAGAATGTGGGAGGGAGGGTGCTCTGGGGTGTGTTGAGGGAGCTGTATTCTGATCCGATAGGCATTCTTCCCACCCGAGCTCATCCTTCAGTTCATAAGCTCTAGGGAACTAGCTCTGTGGAATTCATAGACACATTATAGAAACAGAAAAAGAAGTATTTTAAATTGCCTTAAACTATCTAGCAGCATGAATCATCAGCTCTGGTGTGACTAGGCAGAGTAGATGTCTCCATTTGCCTGTTTTTAAGTACTTGAGGCAGATGGGTTCATTTCTCTCCTATACTTAGCTCTTGAGGCTGAGCACTGATATGTAACAAATAGGGGTTTTAAGAATTCTTTCAGGCCAGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGTTGGCGGGTGCCTGTAATCCGAGCTACTCGGGAGACTGAGGCAGGAAAATTGCTTGAACCCAGGAGGTGGAAGTTGCGGTGAGCCGAGATCGTGTCATTGTACTCCATCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAACCTCTTCCTATGTGGCAACTTTTTTTAAGTTAATATTTCCTTTTTAAAAATCAAAAGTCTGACAGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGATCACGAGGCCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCTGGACGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCCAGGAGACGGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAAAAAAAAATCCGAAGTCTGAGTTAGTAAGAAAACTGAAAAAACATCATATAGAATAAAACAACTTGTTACTCTCCATAATGTGGTAGTTAGTGTCTGTGCTGTGCATTTTGTTTGACATCCTGCTGTGTTTATGACTTTAACCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGAGTGCACGTTTGGTCCTGCTCTCTTCTCCGTGAAGGAGAGCAGATGAAGGTGTTTATGTCATTACCTTCAGTCACAGTAATGGTACAGAGCAGTGGCCATAATCTGCCATCTATGGAGGGTGATTTTGGTGAACTGAATTTGTTAAAGTGAATTACTTAATCACTTGTAGGAAAAGTCCACTCCTAGTGAAGGAATGAGGTCTGACATTCTGTAGGAAATGAGCAGGAAACGAGCAAATGATTCATGAGGCTTTACAGAAGAGGGCCAGAGCAAGGTGGGCATCCATTTCAGGCTTGTCCTAAGATGTGGGCAGAGAGTTGAGAAGACCCTGGTACAGATAGACACAGGAACCACCTCAGCCTAGAGGGGTTTTGTGTAGAGCTGTGTAGACTGCATGGATGGGAAGTATCTGATGACTTTTTAAAAGTGTTCAAACGCCCTGTTAGTAGGGAACTGACAATACTTCACTGTCTTCCCAGGATTGCCATGAGAAAATCAGAGTGCTTTCTCAGCAGGCAGCTTCTGTGGTTAAGCAGGAAGGGGGTGACAATGACCTCATAGAGCGTATCCAGGTTGATGCCTACTTCAGTCCCATTCACTCCCAGTTGGATCATTTACTGGATCCTTCTTCTTTCACTGGTCGTGCCTCCCAGCAGGTAAGCTTCCAAGAAGCCTCTTTTCTGCTGGGCTGCAGAACCTGGGGTACTCTCTTTGATGTTTTTGCTTTATAGGAGGTATGGTGGGAATGGGCTAGTTAGAAGAAAATCAGAGCAGGTTGCTGGCTAAAACTTAGATATTTCGGTTTTGTTTCTGTTTTGTTTTGTTTTTTTGAGACAGAGTCTCTCATCCAGGCTGGAGTGCAGTGGTGCTGAGTGCAGTGGTGCTGGGATTATAGGCATGAGCCCCCACAACTGACCAAGATACCGCTGTTTTGAGCTGCCTTTATTTCTTTGTGTAGATTTTTTGGAATTATCTTTTGGTCTTGAGAATGTGGTATAATGGACAAAGAATTAGGTTTTATTGTCAGGTGGATCTGGGTTAAATCGTAACCTCTGGCATTTACTGGCTGAGAAGGTAAAAGTAAATATCTCAGTGTTGTAATGATTGAAATGCCTGAGTATATACTAGGTGCTCAGTATGTGTTCAGGTACTGTATTTAATTCTGGGGATTTTAAAATGAATAGATAGGCTGGGCGCAGTGGCTCACACCAGTAATCCTAGCATTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCTCAGGAGTTCAAGAACATCCTGGGCAACATGGTGAAACCTTGTCTCTACAAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCGCCTGTAGTCTCTGCTACTCAGGGCTGAGGCGGGAGGATAGCTTGAGCCTAGGAGGTCAAGGCTGCAGTGAGCCATATTCATTCCCTTGCCCTCTGGCTTGGGTGACAAAATGAGATCCTGTCTTAAAAAAAATACAAAGATGAATAGATAATCCTCATCTTCAGAGAGCTCAAAACTTAGTGGTGAATACTTGTAAATAGGTCATTATGATACCAAGCAGTACGTGCAAGGACTGAGGGCTAAAAGACTAAAACTGGAGGTAGGAGACCAATAAGGAGGCTACTGCAACGGGCCAAGCAGTAGATGATGAGAGCTTGAGTGAAGGCAGTGGTGAGAGACACAGACCGGGGAGGGAGAGGAGGTTAAGCTCTTGGTGGCTACTTGAAGAGGGCTGGGAAGCAGGAGGAAAGAAGCTGTGGTGATTTTTAGGTTGGATGGAAATGGTGAAACCACCTGAGAGAACACAGGCTGGGCCAGTTTGCGGGAAAGGTTGGTGAGCATGTGGGCATGGTGGTTGAATCATCTGTGTCTAGGCAGAAATTCCTGATAGGCAGTTGAGGAAAACAAGCTCAGTGTTGGAGTAAAAGCTTCATCAAATTAGGTTTCAGTGGTATCCCCTGACATTGGAAAAGGTATTATCTGCTAATATCTTAACATTTTCTTTTGTCTTGTATTTGCTTTCCTCTGGCAGGTGCAGAGATTCTTAGAAGAGGAGGTGTATCCCCTGTTAAAACCATATGAAAGCGTGATGAAGGTGAAAGCAGAATTATGTCTGTAGAGTTGGAAGAGAATTAAACGAAAATCATTGTTAATTGCTGAGGCATGAAAATTGTGTTACTATAATGCCTTATTTTACCTCGAGAATTGTTACCTTAAATTAGTACAGCACTTTCTTCTTCCCATGGTGCTTTCCTGTTTCTCAGTCTCACATTTCTCAACAAGGCAAAAACAAAGAGCGTTGAAGTTGACTCTGCTCTTGCATAGTAAATGTAGTTCATACTTGATCTCTGTTCTTTCAAGGCATATTTTCCAGCTGCCTCAAGTTTAGTCCTTTTCACGTGTTCATTTGCTTGTAAAGTAGCAAGAAATTTCTGGTCCTGTCTTCTAAAAGTGAATTTGATCTAGGTCTAGCAAAATAACCTGGACTCAGTGATTGAGTCAATGGTCAGATACCTTTTATTTCGGTTATTTTTGGCTAGTATAAGTGATGAAGTTTGGAACTACAGTAAATACTTAAAAAAAAAAAAAAAAAGAACCAAACCCTGAT 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ACACACACTGCATTTCACTGAAATTATTTGTTTAAAGACATACTGAATGGCTATTTGTTTTCTAGACGGATCTGTTTGGCCGAGGCATTTCTTACCGCAGATACTATATTGAATACGCTGCAGAACATTTCTGAAGGATTGGTCGTGTACCCCAAAGTAAGAAGCCTCAATTCAAAAGTAAAGTACTAGGGAGGGGTTAGAATGTGGGAGGGAGGGTGCTCTGGGGTGTGTTGAGGGAGCTGTATTCTGATCCGATAGGCATTCTTCCCACCCGAGCTCATCCTTCAGTTCATAAGCTCTAGGGAACTAGCTCTGTGGAATTCATAGACACATTATAGAAACAGAAAAAGAAGTATTTTAAATTGCCTTAAACTATCTAGCAGCATGAATCATCAGCTCTGGTGTGACTAGGCAGAGTAGATGTCTCCATTTGCCTGTTTTTAAGTACTTGAGGCAGATGGGTTCATTTCTCTCCTATACTTAGCTCTTGAGGCTGAGCACTGATATGTAACAAATAGGGGTTTTAAGAATTCTTTCAGGCCAGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGTTGGCGGGTGCCTGTAATCCGAGCTACTCGGGAGACTGAGGCAGGAAAATTGCTTGAACCCAGGAGGTGGAAGTTGCGGTGAGCCGAGATCGTGTCATTGTACTCCATCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAACCTCTTCCTATGTGGCAACTTTTTTTAAGTTAATATTTCCTTTTTAAAAATCAAAAGTCTGACAGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGATCACGAGGCCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCTGGACGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCCAGGAGACGGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAAAAAAAAATCCGAAGTCTGAGTTAGTAAGAAAACTGAAAAAACATCATATAGAATAAAACAACTTGTTACTCTCCATAATGTGGTAGTTAGTGTCTGTGCTGTGCATTTTGTTTGACATCCTGCTGTGTTTATGACTTTAACCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGAGTGCACGTTTGGTCCTGCTCTCTTCTCCGTGAAGGAGAGCAGATGAAGGTGTTTATGTCATTACCTTCAGTCACAGTAATGGTACAGAGCAGTGGCCATAATCTGCCATCTATGGAGGGTGATTTTGGTGAACTGAATTTGTTAAAGTGAATTACTTAATCACTTGTAGGAAAAGTCCACTCCTAGTGAAGGAATGAGGTCTGACATTCTGTAGGAAATGAGCAGGAAACGAGCAAATGATTCATGAGGCTTTACAGAAGAGGGCCAGAGCAAGGTGGGCATCCATTTCAGGCTTGTCCTAAGATGTGGGCAGAGAGTTGAGAAGACCCTGGTACAGATAGACACAGGAACCACCTCAGCCTAGAGGGGTTTTGTGTAGAGCTGTGTAGACTGCATGGATGGGAAGTATCTGATGACTTTTTAAAAGTGTTCAAACGCCCTGTTAGTAGGGAACTGACAATACTTCACTGTCTTCCCAGGATTGCCATGAGAAAATCAGAGTGCTTTCTCAGCAGGCAGCTTCTGTGGTTAAGCAGGAAGGGGGTGACAATGACCTCATAGAGTGTATCCAGGTTGATGCCTACTTCAGTCCCATTCACTCCCAGTTGGATCATTTACTGGATCCTTCTTCTTTCACTGGTCGTGCCTCCCAGCAGGTAAGCTTCCAAGAAGCCTCTTTTCTGCTGGGCTGCAGAACCTGGGGTACTCTCTTTGATGTTTTTGCTTTATAGGAGGTATGGTGGGAATGGGCTAGTTAGAAGAAAATCAGAGCAGGTTGCTGGCTAAAACTTAGATATTTCGGTTTTGTTTCTGTTTTGTTTTGTTTTTTTGAGACAGAGTCTCTCATCCAGGCTGGAGTGCAGTGGTGCTGAGTGCAGTGGTGCTGGGATTATAGGCATGAGCCCCCACAACTGACCAAGATACCGCTGTTTTGAGCTGCCTTTATTTCTTTGTGTAGATTTTTTGGAATTATCTTTTGGTCTTGAGAATGTGGTATAATGGACAAAGAATTAGGTTTTATTGTCAGGTGGATCTGGGTTAAATCGTAACCTCTGGCATTTACTGGCTGAGAAGGTAAAAGTAAATATCTCAGTGTTGTAATGATTGAAATGCCTGAGTATATACTAGGTGCTCAGTATGTGTTCAGGTACTGTATTTAATTCTGGGGATTTTAAAATGAATAGATAGGCTGGGCGCAGTGGCTCACACCAGTAATCCTAGCATTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCTCAGGAGTTCAAGAACATCCTGGGCAACATGGTGAAACCTTGTCTCTACAAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCGCCTGTAGTCTCTGCTACTCAGGGCTGAGGCGGGAGGATAGCTTGAGCCTAGGAGGTCAAGGCTGCAGTGAGCCATATTCATTCCCTTGCCCTCTGGCTTGGGTGACAAAATGAGATCCTGTCTTAAAAAAAATACAAAGATGAATAGATAATCCTCATCTTCAGAGAGCTCAAAACTTAGTGGTGAATACTTGTAAATAGGTCATTATGATACCAAGCAGTACGTGCAAGGACTGAGGGCTAAAAGACTAAAACTGGAGGTAGGAGACCAATAAGGAGGCTACTGCAACGGGCCAAGCAGTAGATGATGAGAGCTTGAGTGAAGGCAGTGGTGAGAGACACAGACCGGGGAGGGAGAGGAGGTTAAGCTCTTGGTGGCTACTTGAAGAGGGCTGGGAAGCAGGAGGAAAGAAGCTGTGGTGATTTTTAGGTTGGATGGAAATGGTGAAACCACCTGAGAGAACACAGGCTGGGCCAGTTTGCGGGAAAGGTTGGTGAGCATGTGGGCATGGTGGTTGAATCATCTGTGTCTAGGCAGAAATTCCTGATAGGCAGTTGAGGAAAACAAGCTCAGTGTTGGAGTAAAAGCTTCATCAAATTAGGTTTCAGTGGTATCCCCTGACATTGGAAAAGGTATTATCTGCTAATATCTTAACATTTTCTTTTGTCTTGTATTTGCTTTCCTCTGGCAGGTGCAGAGATTCTTAGAAGAGGAGGTGTATCCCCTGTTAAAACCATATGAAAGCGTGATGAAGGTGAAAGCAGAATTATGTCTGTAGAGTTGGAAGAGAATTAAACGAAAATCATTGTTAATTGCTGAGGCATGAAAATTGTGTTACTATAATGCCTTATTTTACCTCGAGAATTGTTACCTTAAATTAGTACAGCACTTTCTTCTTCCCATGGTGCTTTCCTGTTTCTCAGTCTCACATTTCTCAACAAGGCAAAAACAAAGAGCGTTGAAGTTGACTCTGCTCTTGCATAGTAAATGTAGTTCATACTTGATCTCTGTTCTTTCAAGGCATATTTTCCAGCTGCCTCAAGTTTAGTCCTTTTCACGTGTTCATTTGCTTGTAAAGTAGCAAGAAATTTCTGGTCCTGTCTTCTAAAAGTGAATTTGATCTAGGTCTAGCAAAATAACCTGGACTCAGTGATTGAGTCAATGGTCAGATACCTTTTATTTCGGTTATTTTTGGCTAGTATAAGTGATGAAGTTTGGAACTACAGTAAATACTTAAAAAAAAAAAAAAAAAGAACCAAACCCTGAT 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Task1_train_28850 | This is a variant in ADSL (adenylosuccinate lyase), located on Chromosome 22. Is this mutation a likely cause of disease or not? | Pathogenic; Adenylosuccinate lyase deficiency | CACACACTGCATTTCACTGAAATTATTTGTTTAAAGACATACTGAATGGCTATTTGTTTTCTAGACGGATCTGTTTGGCCGAGGCATTTCTTACCGCAGATACTATATTGAATACGCTGCAGAACATTTCTGAAGGATTGGTCGTGTACCCCAAAGTAAGAAGCCTCAATTCAAAAGTAAAGTACTAGGGAGGGGTTAGAATGTGGGAGGGAGGGTGCTCTGGGGTGTGTTGAGGGAGCTGTATTCTGATCCGATAGGCATTCTTCCCACCCGAGCTCATCCTTCAGTTCATAAGCTCTAGGGAACTAGCTCTGTGGAATTCATAGACACATTATAGAAACAGAAAAAGAAGTATTTTAAATTGCCTTAAACTATCTAGCAGCATGAATCATCAGCTCTGGTGTGACTAGGCAGAGTAGATGTCTCCATTTGCCTGTTTTTAAGTACTTGAGGCAGATGGGTTCATTTCTCTCCTATACTTAGCTCTTGAGGCTGAGCACTGATATGTAACAAATAGGGGTTTTAAGAATTCTTTCAGGCCAGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGTTGGCGGGTGCCTGTAATCCGAGCTACTCGGGAGACTGAGGCAGGAAAATTGCTTGAACCCAGGAGGTGGAAGTTGCGGTGAGCCGAGATCGTGTCATTGTACTCCATCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAACCTCTTCCTATGTGGCAACTTTTTTTAAGTTAATATTTCCTTTTTAAAAATCAAAAGTCTGACAGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGATCACGAGGCCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCTGGACGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCCAGGAGACGGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAAAAAAAAATCCGAAGTCTGAGTTAGTAAGAAAACTGAAAAAACATCATATAGAATAAAACAACTTGTTACTCTCCATAATGTGGTAGTTAGTGTCTGTGCTGTGCATTTTGTTTGACATCCTGCTGTGTTTATGACTTTAACCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGAGTGCACGTTTGGTCCTGCTCTCTTCTCCGTGAAGGAGAGCAGATGAAGGTGTTTATGTCATTACCTTCAGTCACAGTAATGGTACAGAGCAGTGGCCATAATCTGCCATCTATGGAGGGTGATTTTGGTGAACTGAATTTGTTAAAGTGAATTACTTAATCACTTGTAGGAAAAGTCCACTCCTAGTGAAGGAATGAGGTCTGACATTCTGTAGGAAATGAGCAGGAAACGAGCAAATGATTCATGAGGCTTTACAGAAGAGGGCCAGAGCAAGGTGGGCATCCATTTCAGGCTTGTCCTAAGATGTGGGCAGAGAGTTGAGAAGACCCTGGTACAGATAGACACAGGAACCACCTCAGCCTAGAGGGGTTTTGTGTAGAGCTGTGTAGACTGCATGGATGGGAAGTATCTGATGACTTTTTAAAAGTGTTCAAACGCCCTGTTAGTAGGGAACTGACAATACTTCACTGTCTTCCCAGGATTGCCATGAGAAAATCAGAGTGCTTTCTCAGCAGGCAGCTTCTGTGGTTAAGCAGGAAGGGGGTGACAATGACCTCATAGAGCGTATCCAGGTTGATGCCTACTTCAGTCCCATTCACTCCCAGTTGGATCATTTACTGGATCCTTCTTCTTTCACTGGTCGTGCCTCCCAGCAGGTAAGCTTCCAAGAAGCCTCTTTTCTGCTGGGCTGCAGAACCTGGGGTACTCTCTTTGATGTTTTTGCTTTATAGGAGGTATGGTGGGAATGGGCTAGTTAGAAGAAAATCAGAGCAGGTTGCTGGCTAAAACTTAGATATTTCGGTTTTGTTTCTGTTTTGTTTTGTTTTTTTGAGACAGAGTCTCTCATCCAGGCTGGAGTGCAGTGGTGCTGAGTGCAGTGGTGCTGGGATTATAGGCATGAGCCCCCACAACTGACCAAGATACCGCTGTTTTGAGCTGCCTTTATTTCTTTGTGTAGATTTTTTGGAATTATCTTTTGGTCTTGAGAATGTGGTATAATGGACAAAGAATTAGGTTTTATTGTCAGGTGGATCTGGGTTAAATCGTAACCTCTGGCATTTACTGGCTGAGAAGGTAAAAGTAAATATCTCAGTGTTGTAATGATTGAAATGCCTGAGTATATACTAGGTGCTCAGTATGTGTTCAGGTACTGTATTTAATTCTGGGGATTTTAAAATGAATAGATAGGCTGGGCGCAGTGGCTCACACCAGTAATCCTAGCATTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCTCAGGAGTTCAAGAACATCCTGGGCAACATGGTGAAACCTTGTCTCTACAAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCGCCTGTAGTCTCTGCTACTCAGGGCTGAGGCGGGAGGATAGCTTGAGCCTAGGAGGTCAAGGCTGCAGTGAGCCATATTCATTCCCTTGCCCTCTGGCTTGGGTGACAAAATGAGATCCTGTCTTAAAAAAAATACAAAGATGAATAGATAATCCTCATCTTCAGAGAGCTCAAAACTTAGTGGTGAATACTTGTAAATAGGTCATTATGATACCAAGCAGTACGTGCAAGGACTGAGGGCTAAAAGACTAAAACTGGAGGTAGGAGACCAATAAGGAGGCTACTGCAACGGGCCAAGCAGTAGATGATGAGAGCTTGAGTGAAGGCAGTGGTGAGAGACACAGACCGGGGAGGGAGAGGAGGTTAAGCTCTTGGTGGCTACTTGAAGAGGGCTGGGAAGCAGGAGGAAAGAAGCTGTGGTGATTTTTAGGTTGGATGGAAATGGTGAAACCACCTGAGAGAACACAGGCTGGGCCAGTTTGCGGGAAAGGTTGGTGAGCATGTGGGCATGGTGGTTGAATCATCTGTGTCTAGGCAGAAATTCCTGATAGGCAGTTGAGGAAAACAAGCTCAGTGTTGGAGTAAAAGCTTCATCAAATTAGGTTTCAGTGGTATCCCCTGACATTGGAAAAGGTATTATCTGCTAATATCTTAACATTTTCTTTTGTCTTGTATTTGCTTTCCTCTGGCAGGTGCAGAGATTCTTAGAAGAGGAGGTGTATCCCCTGTTAAAACCATATGAAAGCGTGATGAAGGTGAAAGCAGAATTATGTCTGTAGAGTTGGAAGAGAATTAAACGAAAATCATTGTTAATTGCTGAGGCATGAAAATTGTGTTACTATAATGCCTTATTTTACCTCGAGAATTGTTACCTTAAATTAGTACAGCACTTTCTTCTTCCCATGGTGCTTTCCTGTTTCTCAGTCTCACATTTCTCAACAAGGCAAAAACAAAGAGCGTTGAAGTTGACTCTGCTCTTGCATAGTAAATGTAGTTCATACTTGATCTCTGTTCTTTCAAGGCATATTTTCCAGCTGCCTCAAGTTTAGTCCTTTTCACGTGTTCATTTGCTTGTAAAGTAGCAAGAAATTTCTGGTCCTGTCTTCTAAAAGTGAATTTGATCTAGGTCTAGCAAAATAACCTGGACTCAGTGATTGAGTCAATGGTCAGATACCTTTTATTTCGGTTATTTTTGGCTAGTATAAGTGATGAAGTTTGGAACTACAGTAAATACTTAAAAAAAAAAAAAAAAAGAACCAAACCCTGATG 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CACACACTGCATTTCACTGAAATTATTTGTTTAAAGACATACTGAATGGCTATTTGTTTTCTAGACGGATCTGTTTGGCCGAGGCATTTCTTACCGCAGATACTATATTGAATACGCTGCAGAACATTTCTGAAGGATTGGTCGTGTACCCCAAAGTAAGAAGCCTCAATTCAAAAGTAAAGTACTAGGGAGGGGTTAGAATGTGGGAGGGAGGGTGCTCTGGGGTGTGTTGAGGGAGCTGTATTCTGATCCGATAGGCATTCTTCCCACCCGAGCTCATCCTTCAGTTCATAAGCTCTAGGGAACTAGCTCTGTGGAATTCATAGACACATTATAGAAACAGAAAAAGAAGTATTTTAAATTGCCTTAAACTATCTAGCAGCATGAATCATCAGCTCTGGTGTGACTAGGCAGAGTAGATGTCTCCATTTGCCTGTTTTTAAGTACTTGAGGCAGATGGGTTCATTTCTCTCCTATACTTAGCTCTTGAGGCTGAGCACTGATATGTAACAAATAGGGGTTTTAAGAATTCTTTCAGGCCAGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGTTGGCGGGTGCCTGTAATCCGAGCTACTCGGGAGACTGAGGCAGGAAAATTGCTTGAACCCAGGAGGTGGAAGTTGCGGTGAGCCGAGATCGTGTCATTGTACTCCATCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAACCTCTTCCTATGTGGCAACTTTTTTTAAGTTAATATTTCCTTTTTAAAAATCAAAAGTCTGACAGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGATCACGAGGCCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCTGGACGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCCAGGAGACGGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAAAAAAAAATCCGAAGTCTGAGTTAGTAAGAAAACTGAAAAAACATCATATAGAATAAAACAACTTGTTACTCTCCATAATGTGGTAGTTAGTGTCTGTGCTGTGCATTTTGTTTGACATCCTGCTGTGTTTATGACTTTAACCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGAGTGCACGTTTGGTCCTGCTCTCTTCTCCGTGAAGGAGAGCAGATGAAGGTGTTTATGTCATTACCTTCAGTCACAGTAATGGTACAGAGCAGTGGCCATAATCTGCCATCTATGGAGGGTGATTTTGGTGAACTGAATTTGTTAAAGTGAATTACTTAATCACTTGTAGGAAAAGTCCACTCCTAGTGAAGGAATGAGGTCTGACATTCTGTAGGAAATGAGCAGGAAACGAGCAAATGATTCATGAGGCTTTACAGAAGAGGGCCAGAGCAAGGTGGGCATCCATTTCAGGCTTGTCCTAAGATGTGGGCAGAGAGTTGAGAAGACCCTGGTACAGATAGACACAGGAACCACCTCAGCCTAGAGGGGTTTTGTGTAGAGCTGTGTAGACTGCATGGATGGGAAGTATCTGATGACTTTTTAAAAGTGTTCAAACGCCCTGTTAGTAGGGAACTGACAATACTTCACTGTCTTCCCAGGATTGCCATGAGAAAATCAGAGTGCTTTCTCAGCAGGCAGCTTCTGTGGTTAAGCAGGAAGGGGGTGACAATGACCTCATAGAGCATATCCAGGTTGATGCCTACTTCAGTCCCATTCACTCCCAGTTGGATCATTTACTGGATCCTTCTTCTTTCACTGGTCGTGCCTCCCAGCAGGTAAGCTTCCAAGAAGCCTCTTTTCTGCTGGGCTGCAGAACCTGGGGTACTCTCTTTGATGTTTTTGCTTTATAGGAGGTATGGTGGGAATGGGCTAGTTAGAAGAAAATCAGAGCAGGTTGCTGGCTAAAACTTAGATATTTCGGTTTTGTTTCTGTTTTGTTTTGTTTTTTTGAGACAGAGTCTCTCATCCAGGCTGGAGTGCAGTGGTGCTGAGTGCAGTGGTGCTGGGATTATAGGCATGAGCCCCCACAACTGACCAAGATACCGCTGTTTTGAGCTGCCTTTATTTCTTTGTGTAGATTTTTTGGAATTATCTTTTGGTCTTGAGAATGTGGTATAATGGACAAAGAATTAGGTTTTATTGTCAGGTGGATCTGGGTTAAATCGTAACCTCTGGCATTTACTGGCTGAGAAGGTAAAAGTAAATATCTCAGTGTTGTAATGATTGAAATGCCTGAGTATATACTAGGTGCTCAGTATGTGTTCAGGTACTGTATTTAATTCTGGGGATTTTAAAATGAATAGATAGGCTGGGCGCAGTGGCTCACACCAGTAATCCTAGCATTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCTCAGGAGTTCAAGAACATCCTGGGCAACATGGTGAAACCTTGTCTCTACAAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCGCCTGTAGTCTCTGCTACTCAGGGCTGAGGCGGGAGGATAGCTTGAGCCTAGGAGGTCAAGGCTGCAGTGAGCCATATTCATTCCCTTGCCCTCTGGCTTGGGTGACAAAATGAGATCCTGTCTTAAAAAAAATACAAAGATGAATAGATAATCCTCATCTTCAGAGAGCTCAAAACTTAGTGGTGAATACTTGTAAATAGGTCATTATGATACCAAGCAGTACGTGCAAGGACTGAGGGCTAAAAGACTAAAACTGGAGGTAGGAGACCAATAAGGAGGCTACTGCAACGGGCCAAGCAGTAGATGATGAGAGCTTGAGTGAAGGCAGTGGTGAGAGACACAGACCGGGGAGGGAGAGGAGGTTAAGCTCTTGGTGGCTACTTGAAGAGGGCTGGGAAGCAGGAGGAAAGAAGCTGTGGTGATTTTTAGGTTGGATGGAAATGGTGAAACCACCTGAGAGAACACAGGCTGGGCCAGTTTGCGGGAAAGGTTGGTGAGCATGTGGGCATGGTGGTTGAATCATCTGTGTCTAGGCAGAAATTCCTGATAGGCAGTTGAGGAAAACAAGCTCAGTGTTGGAGTAAAAGCTTCATCAAATTAGGTTTCAGTGGTATCCCCTGACATTGGAAAAGGTATTATCTGCTAATATCTTAACATTTTCTTTTGTCTTGTATTTGCTTTCCTCTGGCAGGTGCAGAGATTCTTAGAAGAGGAGGTGTATCCCCTGTTAAAACCATATGAAAGCGTGATGAAGGTGAAAGCAGAATTATGTCTGTAGAGTTGGAAGAGAATTAAACGAAAATCATTGTTAATTGCTGAGGCATGAAAATTGTGTTACTATAATGCCTTATTTTACCTCGAGAATTGTTACCTTAAATTAGTACAGCACTTTCTTCTTCCCATGGTGCTTTCCTGTTTCTCAGTCTCACATTTCTCAACAAGGCAAAAACAAAGAGCGTTGAAGTTGACTCTGCTCTTGCATAGTAAATGTAGTTCATACTTGATCTCTGTTCTTTCAAGGCATATTTTCCAGCTGCCTCAAGTTTAGTCCTTTTCACGTGTTCATTTGCTTGTAAAGTAGCAAGAAATTTCTGGTCCTGTCTTCTAAAAGTGAATTTGATCTAGGTCTAGCAAAATAACCTGGACTCAGTGATTGAGTCAATGGTCAGATACCTTTTATTTCGGTTATTTTTGGCTAGTATAAGTGATGAAGTTTGGAACTACAGTAAATACTTAAAAAAAAAAAAAAAAAGAACCAAACCCTGATG 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Task1_train_28851 | The following genetic variant occurs in ADSL (adenylosuccinate lyase) on Chromosome 22. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Inborn genetic diseases | CACACACTGCATTTCACTGAAATTATTTGTTTAAAGACATACTGAATGGCTATTTGTTTTCTAGACGGATCTGTTTGGCCGAGGCATTTCTTACCGCAGATACTATATTGAATACGCTGCAGAACATTTCTGAAGGATTGGTCGTGTACCCCAAAGTAAGAAGCCTCAATTCAAAAGTAAAGTACTAGGGAGGGGTTAGAATGTGGGAGGGAGGGTGCTCTGGGGTGTGTTGAGGGAGCTGTATTCTGATCCGATAGGCATTCTTCCCACCCGAGCTCATCCTTCAGTTCATAAGCTCTAGGGAACTAGCTCTGTGGAATTCATAGACACATTATAGAAACAGAAAAAGAAGTATTTTAAATTGCCTTAAACTATCTAGCAGCATGAATCATCAGCTCTGGTGTGACTAGGCAGAGTAGATGTCTCCATTTGCCTGTTTTTAAGTACTTGAGGCAGATGGGTTCATTTCTCTCCTATACTTAGCTCTTGAGGCTGAGCACTGATATGTAACAAATAGGGGTTTTAAGAATTCTTTCAGGCCAGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGTTGGCGGGTGCCTGTAATCCGAGCTACTCGGGAGACTGAGGCAGGAAAATTGCTTGAACCCAGGAGGTGGAAGTTGCGGTGAGCCGAGATCGTGTCATTGTACTCCATCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAACCTCTTCCTATGTGGCAACTTTTTTTAAGTTAATATTTCCTTTTTAAAAATCAAAAGTCTGACAGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGATCACGAGGCCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCTGGACGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCCAGGAGACGGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAAAAAAAAATCCGAAGTCTGAGTTAGTAAGAAAACTGAAAAAACATCATATAGAATAAAACAACTTGTTACTCTCCATAATGTGGTAGTTAGTGTCTGTGCTGTGCATTTTGTTTGACATCCTGCTGTGTTTATGACTTTAACCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGAGTGCACGTTTGGTCCTGCTCTCTTCTCCGTGAAGGAGAGCAGATGAAGGTGTTTATGTCATTACCTTCAGTCACAGTAATGGTACAGAGCAGTGGCCATAATCTGCCATCTATGGAGGGTGATTTTGGTGAACTGAATTTGTTAAAGTGAATTACTTAATCACTTGTAGGAAAAGTCCACTCCTAGTGAAGGAATGAGGTCTGACATTCTGTAGGAAATGAGCAGGAAACGAGCAAATGATTCATGAGGCTTTACAGAAGAGGGCCAGAGCAAGGTGGGCATCCATTTCAGGCTTGTCCTAAGATGTGGGCAGAGAGTTGAGAAGACCCTGGTACAGATAGACACAGGAACCACCTCAGCCTAGAGGGGTTTTGTGTAGAGCTGTGTAGACTGCATGGATGGGAAGTATCTGATGACTTTTTAAAAGTGTTCAAACGCCCTGTTAGTAGGGAACTGACAATACTTCACTGTCTTCCCAGGATTGCCATGAGAAAATCAGAGTGCTTTCTCAGCAGGCAGCTTCTGTGGTTAAGCAGGAAGGGGGTGACAATGACCTCATAGAGCGTATCCAGGTTGATGCCTACTTCAGTCCCATTCACTCCCAGTTGGATCATTTACTGGATCCTTCTTCTTTCACTGGTCGTGCCTCCCAGCAGGTAAGCTTCCAAGAAGCCTCTTTTCTGCTGGGCTGCAGAACCTGGGGTACTCTCTTTGATGTTTTTGCTTTATAGGAGGTATGGTGGGAATGGGCTAGTTAGAAGAAAATCAGAGCAGGTTGCTGGCTAAAACTTAGATATTTCGGTTTTGTTTCTGTTTTGTTTTGTTTTTTTGAGACAGAGTCTCTCATCCAGGCTGGAGTGCAGTGGTGCTGAGTGCAGTGGTGCTGGGATTATAGGCATGAGCCCCCACAACTGACCAAGATACCGCTGTTTTGAGCTGCCTTTATTTCTTTGTGTAGATTTTTTGGAATTATCTTTTGGTCTTGAGAATGTGGTATAATGGACAAAGAATTAGGTTTTATTGTCAGGTGGATCTGGGTTAAATCGTAACCTCTGGCATTTACTGGCTGAGAAGGTAAAAGTAAATATCTCAGTGTTGTAATGATTGAAATGCCTGAGTATATACTAGGTGCTCAGTATGTGTTCAGGTACTGTATTTAATTCTGGGGATTTTAAAATGAATAGATAGGCTGGGCGCAGTGGCTCACACCAGTAATCCTAGCATTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCTCAGGAGTTCAAGAACATCCTGGGCAACATGGTGAAACCTTGTCTCTACAAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCGCCTGTAGTCTCTGCTACTCAGGGCTGAGGCGGGAGGATAGCTTGAGCCTAGGAGGTCAAGGCTGCAGTGAGCCATATTCATTCCCTTGCCCTCTGGCTTGGGTGACAAAATGAGATCCTGTCTTAAAAAAAATACAAAGATGAATAGATAATCCTCATCTTCAGAGAGCTCAAAACTTAGTGGTGAATACTTGTAAATAGGTCATTATGATACCAAGCAGTACGTGCAAGGACTGAGGGCTAAAAGACTAAAACTGGAGGTAGGAGACCAATAAGGAGGCTACTGCAACGGGCCAAGCAGTAGATGATGAGAGCTTGAGTGAAGGCAGTGGTGAGAGACACAGACCGGGGAGGGAGAGGAGGTTAAGCTCTTGGTGGCTACTTGAAGAGGGCTGGGAAGCAGGAGGAAAGAAGCTGTGGTGATTTTTAGGTTGGATGGAAATGGTGAAACCACCTGAGAGAACACAGGCTGGGCCAGTTTGCGGGAAAGGTTGGTGAGCATGTGGGCATGGTGGTTGAATCATCTGTGTCTAGGCAGAAATTCCTGATAGGCAGTTGAGGAAAACAAGCTCAGTGTTGGAGTAAAAGCTTCATCAAATTAGGTTTCAGTGGTATCCCCTGACATTGGAAAAGGTATTATCTGCTAATATCTTAACATTTTCTTTTGTCTTGTATTTGCTTTCCTCTGGCAGGTGCAGAGATTCTTAGAAGAGGAGGTGTATCCCCTGTTAAAACCATATGAAAGCGTGATGAAGGTGAAAGCAGAATTATGTCTGTAGAGTTGGAAGAGAATTAAACGAAAATCATTGTTAATTGCTGAGGCATGAAAATTGTGTTACTATAATGCCTTATTTTACCTCGAGAATTGTTACCTTAAATTAGTACAGCACTTTCTTCTTCCCATGGTGCTTTCCTGTTTCTCAGTCTCACATTTCTCAACAAGGCAAAAACAAAGAGCGTTGAAGTTGACTCTGCTCTTGCATAGTAAATGTAGTTCATACTTGATCTCTGTTCTTTCAAGGCATATTTTCCAGCTGCCTCAAGTTTAGTCCTTTTCACGTGTTCATTTGCTTGTAAAGTAGCAAGAAATTTCTGGTCCTGTCTTCTAAAAGTGAATTTGATCTAGGTCTAGCAAAATAACCTGGACTCAGTGATTGAGTCAATGGTCAGATACCTTTTATTTCGGTTATTTTTGGCTAGTATAAGTGATGAAGTTTGGAACTACAGTAAATACTTAAAAAAAAAAAAAAAAAGAACCAAACCCTGATG 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CACACACTGCATTTCACTGAAATTATTTGTTTAAAGACATACTGAATGGCTATTTGTTTTCTAGACGGATCTGTTTGGCCGAGGCATTTCTTACCGCAGATACTATATTGAATACGCTGCAGAACATTTCTGAAGGATTGGTCGTGTACCCCAAAGTAAGAAGCCTCAATTCAAAAGTAAAGTACTAGGGAGGGGTTAGAATGTGGGAGGGAGGGTGCTCTGGGGTGTGTTGAGGGAGCTGTATTCTGATCCGATAGGCATTCTTCCCACCCGAGCTCATCCTTCAGTTCATAAGCTCTAGGGAACTAGCTCTGTGGAATTCATAGACACATTATAGAAACAGAAAAAGAAGTATTTTAAATTGCCTTAAACTATCTAGCAGCATGAATCATCAGCTCTGGTGTGACTAGGCAGAGTAGATGTCTCCATTTGCCTGTTTTTAAGTACTTGAGGCAGATGGGTTCATTTCTCTCCTATACTTAGCTCTTGAGGCTGAGCACTGATATGTAACAAATAGGGGTTTTAAGAATTCTTTCAGGCCAGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGTTGGCGGGTGCCTGTAATCCGAGCTACTCGGGAGACTGAGGCAGGAAAATTGCTTGAACCCAGGAGGTGGAAGTTGCGGTGAGCCGAGATCGTGTCATTGTACTCCATCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAACCTCTTCCTATGTGGCAACTTTTTTTAAGTTAATATTTCCTTTTTAAAAATCAAAAGTCTGACAGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGATCACGAGGCCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCTGGACGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCCAGGAGACGGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAAAAAAAAATCCGAAGTCTGAGTTAGTAAGAAAACTGAAAAAACATCATATAGAATAAAACAACTTGTTACTCTCCATAATGTGGTAGTTAGTGTCTGTGCTGTGCATTTTGTTTGACATCCTGCTGTGTTTATGACTTTAACCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGAGTGCACGTTTGGTCCTGCTCTCTTCTCCGTGAAGGAGAGCAGATGAAGGTGTTTATGTCATTACCTTCAGTCACAGTAATGGTACAGAGCAGTGGCCATAATCTGCCATCTATGGAGGGTGATTTTGGTGAACTGAATTTGTTAAAGTGAATTACTTAATCACTTGTAGGAAAAGTCCACTCCTAGTGAAGGAATGAGGTCTGACATTCTGTAGGAAATGAGCAGGAAACGAGCAAATGATTCATGAGGCTTTACAGAAGAGGGCCAGAGCAAGGTGGGCATCCATTTCAGGCTTGTCCTAAGATGTGGGCAGAGAGTTGAGAAGACCCTGGTACAGATAGACACAGGAACCACCTCAGCCTAGAGGGGTTTTGTGTAGAGCTGTGTAGACTGCATGGATGGGAAGTATCTGATGACTTTTTAAAAGTGTTCAAACGCCCTGTTAGTAGGGAACTGACAATACTTCACTGTCTTCCCAGGATTGCCATGAGAAAATCAGAGTGCTTTCTCAGCAGGCAGCTTCTGTGGTTAAGCAGGAAGGGGGTGACAATGACCTCATAGAGCATATCCAGGTTGATGCCTACTTCAGTCCCATTCACTCCCAGTTGGATCATTTACTGGATCCTTCTTCTTTCACTGGTCGTGCCTCCCAGCAGGTAAGCTTCCAAGAAGCCTCTTTTCTGCTGGGCTGCAGAACCTGGGGTACTCTCTTTGATGTTTTTGCTTTATAGGAGGTATGGTGGGAATGGGCTAGTTAGAAGAAAATCAGAGCAGGTTGCTGGCTAAAACTTAGATATTTCGGTTTTGTTTCTGTTTTGTTTTGTTTTTTTGAGACAGAGTCTCTCATCCAGGCTGGAGTGCAGTGGTGCTGAGTGCAGTGGTGCTGGGATTATAGGCATGAGCCCCCACAACTGACCAAGATACCGCTGTTTTGAGCTGCCTTTATTTCTTTGTGTAGATTTTTTGGAATTATCTTTTGGTCTTGAGAATGTGGTATAATGGACAAAGAATTAGGTTTTATTGTCAGGTGGATCTGGGTTAAATCGTAACCTCTGGCATTTACTGGCTGAGAAGGTAAAAGTAAATATCTCAGTGTTGTAATGATTGAAATGCCTGAGTATATACTAGGTGCTCAGTATGTGTTCAGGTACTGTATTTAATTCTGGGGATTTTAAAATGAATAGATAGGCTGGGCGCAGTGGCTCACACCAGTAATCCTAGCATTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCTCAGGAGTTCAAGAACATCCTGGGCAACATGGTGAAACCTTGTCTCTACAAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCGCCTGTAGTCTCTGCTACTCAGGGCTGAGGCGGGAGGATAGCTTGAGCCTAGGAGGTCAAGGCTGCAGTGAGCCATATTCATTCCCTTGCCCTCTGGCTTGGGTGACAAAATGAGATCCTGTCTTAAAAAAAATACAAAGATGAATAGATAATCCTCATCTTCAGAGAGCTCAAAACTTAGTGGTGAATACTTGTAAATAGGTCATTATGATACCAAGCAGTACGTGCAAGGACTGAGGGCTAAAAGACTAAAACTGGAGGTAGGAGACCAATAAGGAGGCTACTGCAACGGGCCAAGCAGTAGATGATGAGAGCTTGAGTGAAGGCAGTGGTGAGAGACACAGACCGGGGAGGGAGAGGAGGTTAAGCTCTTGGTGGCTACTTGAAGAGGGCTGGGAAGCAGGAGGAAAGAAGCTGTGGTGATTTTTAGGTTGGATGGAAATGGTGAAACCACCTGAGAGAACACAGGCTGGGCCAGTTTGCGGGAAAGGTTGGTGAGCATGTGGGCATGGTGGTTGAATCATCTGTGTCTAGGCAGAAATTCCTGATAGGCAGTTGAGGAAAACAAGCTCAGTGTTGGAGTAAAAGCTTCATCAAATTAGGTTTCAGTGGTATCCCCTGACATTGGAAAAGGTATTATCTGCTAATATCTTAACATTTTCTTTTGTCTTGTATTTGCTTTCCTCTGGCAGGTGCAGAGATTCTTAGAAGAGGAGGTGTATCCCCTGTTAAAACCATATGAAAGCGTGATGAAGGTGAAAGCAGAATTATGTCTGTAGAGTTGGAAGAGAATTAAACGAAAATCATTGTTAATTGCTGAGGCATGAAAATTGTGTTACTATAATGCCTTATTTTACCTCGAGAATTGTTACCTTAAATTAGTACAGCACTTTCTTCTTCCCATGGTGCTTTCCTGTTTCTCAGTCTCACATTTCTCAACAAGGCAAAAACAAAGAGCGTTGAAGTTGACTCTGCTCTTGCATAGTAAATGTAGTTCATACTTGATCTCTGTTCTTTCAAGGCATATTTTCCAGCTGCCTCAAGTTTAGTCCTTTTCACGTGTTCATTTGCTTGTAAAGTAGCAAGAAATTTCTGGTCCTGTCTTCTAAAAGTGAATTTGATCTAGGTCTAGCAAAATAACCTGGACTCAGTGATTGAGTCAATGGTCAGATACCTTTTATTTCGGTTATTTTTGGCTAGTATAAGTGATGAAGTTTGGAACTACAGTAAATACTTAAAAAAAAAAAAAAAAAGAACCAAACCCTGATG 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Task1_train_28852 | Consider this mutation in ADSL (adenylosuccinate lyase) on Chromosome 22. Is this a benign change or a disease-causing variant? | Pathogenic; Adenylosuccinate lyase deficiency | GACATACTGAATGGCTATTTGTTTTCTAGACGGATCTGTTTGGCCGAGGCATTTCTTACCGCAGATACTATATTGAATACGCTGCAGAACATTTCTGAAGGATTGGTCGTGTACCCCAAAGTAAGAAGCCTCAATTCAAAAGTAAAGTACTAGGGAGGGGTTAGAATGTGGGAGGGAGGGTGCTCTGGGGTGTGTTGAGGGAGCTGTATTCTGATCCGATAGGCATTCTTCCCACCCGAGCTCATCCTTCAGTTCATAAGCTCTAGGGAACTAGCTCTGTGGAATTCATAGACACATTATAGAAACAGAAAAAGAAGTATTTTAAATTGCCTTAAACTATCTAGCAGCATGAATCATCAGCTCTGGTGTGACTAGGCAGAGTAGATGTCTCCATTTGCCTGTTTTTAAGTACTTGAGGCAGATGGGTTCATTTCTCTCCTATACTTAGCTCTTGAGGCTGAGCACTGATATGTAACAAATAGGGGTTTTAAGAATTCTTTCAGGCCAGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGTTGGCGGGTGCCTGTAATCCGAGCTACTCGGGAGACTGAGGCAGGAAAATTGCTTGAACCCAGGAGGTGGAAGTTGCGGTGAGCCGAGATCGTGTCATTGTACTCCATCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAACCTCTTCCTATGTGGCAACTTTTTTTAAGTTAATATTTCCTTTTTAAAAATCAAAAGTCTGACAGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGATCACGAGGCCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCTGGACGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCCAGGAGACGGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAAAAAAAAATCCGAAGTCTGAGTTAGTAAGAAAACTGAAAAAACATCATATAGAATAAAACAACTTGTTACTCTCCATAATGTGGTAGTTAGTGTCTGTGCTGTGCATTTTGTTTGACATCCTGCTGTGTTTATGACTTTAACCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGAGTGCACGTTTGGTCCTGCTCTCTTCTCCGTGAAGGAGAGCAGATGAAGGTGTTTATGTCATTACCTTCAGTCACAGTAATGGTACAGAGCAGTGGCCATAATCTGCCATCTATGGAGGGTGATTTTGGTGAACTGAATTTGTTAAAGTGAATTACTTAATCACTTGTAGGAAAAGTCCACTCCTAGTGAAGGAATGAGGTCTGACATTCTGTAGGAAATGAGCAGGAAACGAGCAAATGATTCATGAGGCTTTACAGAAGAGGGCCAGAGCAAGGTGGGCATCCATTTCAGGCTTGTCCTAAGATGTGGGCAGAGAGTTGAGAAGACCCTGGTACAGATAGACACAGGAACCACCTCAGCCTAGAGGGGTTTTGTGTAGAGCTGTGTAGACTGCATGGATGGGAAGTATCTGATGACTTTTTAAAAGTGTTCAAACGCCCTGTTAGTAGGGAACTGACAATACTTCACTGTCTTCCCAGGATTGCCATGAGAAAATCAGAGTGCTTTCTCAGCAGGCAGCTTCTGTGGTTAAGCAGGAAGGGGGTGACAATGACCTCATAGAGCGTATCCAGGTTGATGCCTACTTCAGTCCCATTCACTCCCAGTTGGATCATTTACTGGATCCTTCTTCTTTCACTGGTCGTGCCTCCCAGCAGGTAAGCTTCCAAGAAGCCTCTTTTCTGCTGGGCTGCAGAACCTGGGGTACTCTCTTTGATGTTTTTGCTTTATAGGAGGTATGGTGGGAATGGGCTAGTTAGAAGAAAATCAGAGCAGGTTGCTGGCTAAAACTTAGATATTTCGGTTTTGTTTCTGTTTTGTTTTGTTTTTTTGAGACAGAGTCTCTCATCCAGGCTGGAGTGCAGTGGTGCTGAGTGCAGTGGTGCTGGGATTATAGGCATGAGCCCCCACAACTGACCAAGATACCGCTGTTTTGAGCTGCCTTTATTTCTTTGTGTAGATTTTTTGGAATTATCTTTTGGTCTTGAGAATGTGGTATAATGGACAAAGAATTAGGTTTTATTGTCAGGTGGATCTGGGTTAAATCGTAACCTCTGGCATTTACTGGCTGAGAAGGTAAAAGTAAATATCTCAGTGTTGTAATGATTGAAATGCCTGAGTATATACTAGGTGCTCAGTATGTGTTCAGGTACTGTATTTAATTCTGGGGATTTTAAAATGAATAGATAGGCTGGGCGCAGTGGCTCACACCAGTAATCCTAGCATTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCTCAGGAGTTCAAGAACATCCTGGGCAACATGGTGAAACCTTGTCTCTACAAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCGCCTGTAGTCTCTGCTACTCAGGGCTGAGGCGGGAGGATAGCTTGAGCCTAGGAGGTCAAGGCTGCAGTGAGCCATATTCATTCCCTTGCCCTCTGGCTTGGGTGACAAAATGAGATCCTGTCTTAAAAAAAATACAAAGATGAATAGATAATCCTCATCTTCAGAGAGCTCAAAACTTAGTGGTGAATACTTGTAAATAGGTCATTATGATACCAAGCAGTACGTGCAAGGACTGAGGGCTAAAAGACTAAAACTGGAGGTAGGAGACCAATAAGGAGGCTACTGCAACGGGCCAAGCAGTAGATGATGAGAGCTTGAGTGAAGGCAGTGGTGAGAGACACAGACCGGGGAGGGAGAGGAGGTTAAGCTCTTGGTGGCTACTTGAAGAGGGCTGGGAAGCAGGAGGAAAGAAGCTGTGGTGATTTTTAGGTTGGATGGAAATGGTGAAACCACCTGAGAGAACACAGGCTGGGCCAGTTTGCGGGAAAGGTTGGTGAGCATGTGGGCATGGTGGTTGAATCATCTGTGTCTAGGCAGAAATTCCTGATAGGCAGTTGAGGAAAACAAGCTCAGTGTTGGAGTAAAAGCTTCATCAAATTAGGTTTCAGTGGTATCCCCTGACATTGGAAAAGGTATTATCTGCTAATATCTTAACATTTTCTTTTGTCTTGTATTTGCTTTCCTCTGGCAGGTGCAGAGATTCTTAGAAGAGGAGGTGTATCCCCTGTTAAAACCATATGAAAGCGTGATGAAGGTGAAAGCAGAATTATGTCTGTAGAGTTGGAAGAGAATTAAACGAAAATCATTGTTAATTGCTGAGGCATGAAAATTGTGTTACTATAATGCCTTATTTTACCTCGAGAATTGTTACCTTAAATTAGTACAGCACTTTCTTCTTCCCATGGTGCTTTCCTGTTTCTCAGTCTCACATTTCTCAACAAGGCAAAAACAAAGAGCGTTGAAGTTGACTCTGCTCTTGCATAGTAAATGTAGTTCATACTTGATCTCTGTTCTTTCAAGGCATATTTTCCAGCTGCCTCAAGTTTAGTCCTTTTCACGTGTTCATTTGCTTGTAAAGTAGCAAGAAATTTCTGGTCCTGTCTTCTAAAAGTGAATTTGATCTAGGTCTAGCAAAATAACCTGGACTCAGTGATTGAGTCAATGGTCAGATACCTTTTATTTCGGTTATTTTTGGCTAGTATAAGTGATGAAGTTTGGAACTACAGTAAATACTTAAAAAAAAAAAAAAAAAGAACCAAACCCTGATGTGACCATCAGGCTGATTGAGCTGAAGTTGTGCCCA 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GACATACTGAATGGCTATTTGTTTTCTAGACGGATCTGTTTGGCCGAGGCATTTCTTACCGCAGATACTATATTGAATACGCTGCAGAACATTTCTGAAGGATTGGTCGTGTACCCCAAAGTAAGAAGCCTCAATTCAAAAGTAAAGTACTAGGGAGGGGTTAGAATGTGGGAGGGAGGGTGCTCTGGGGTGTGTTGAGGGAGCTGTATTCTGATCCGATAGGCATTCTTCCCACCCGAGCTCATCCTTCAGTTCATAAGCTCTAGGGAACTAGCTCTGTGGAATTCATAGACACATTATAGAAACAGAAAAAGAAGTATTTTAAATTGCCTTAAACTATCTAGCAGCATGAATCATCAGCTCTGGTGTGACTAGGCAGAGTAGATGTCTCCATTTGCCTGTTTTTAAGTACTTGAGGCAGATGGGTTCATTTCTCTCCTATACTTAGCTCTTGAGGCTGAGCACTGATATGTAACAAATAGGGGTTTTAAGAATTCTTTCAGGCCAGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGTTGGCGGGTGCCTGTAATCCGAGCTACTCGGGAGACTGAGGCAGGAAAATTGCTTGAACCCAGGAGGTGGAAGTTGCGGTGAGCCGAGATCGTGTCATTGTACTCCATCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAACCTCTTCCTATGTGGCAACTTTTTTTAAGTTAATATTTCCTTTTTAAAAATCAAAAGTCTGACAGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGATCACGAGGCCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCTGGACGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCCAGGAGACGGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAAAAAAAAATCCGAAGTCTGAGTTAGTAAGAAAACTGAAAAAACATCATATAGAATAAAACAACTTGTTACTCTCCATAATGTGGTAGTTAGTGTCTGTGCTGTGCATTTTGTTTGACATCCTGCTGTGTTTATGACTTTAACCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGAGTGCACGTTTGGTCCTGCTCTCTTCTCCGTGAAGGAGAGCAGATGAAGGTGTTTATGTCATTACCTTCAGTCACAGTAATGGTACAGAGCAGTGGCCATAATCTGCCATCTATGGAGGGTGATTTTGGTGAACTGAATTTGTTAAAGTGAATTACTTAATCACTTGTAGGAAAAGTCCACTCCTAGTGAAGGAATGAGGTCTGACATTCTGTAGGAAATGAGCAGGAAACGAGCAAATGATTCATGAGGCTTTACAGAAGAGGGCCAGAGCAAGGTGGGCATCCATTTCAGGCTTGTCCTAAGATGTGGGCAGAGAGTTGAGAAGACCCTGGTACAGATAGACACAGGAACCACCTCAGCCTAGAGGGGTTTTGTGTAGAGCTGTGTAGACTGCATGGATGGGAAGTATCTGATGACTTTTTAAAAGTGTTCAAACGCCCTGTTAGTAGGGAACTGACAATACTTCACTGTCTTCCCAGGATTGCCATGAGAAAATCAGAGTGCTTTCTCAGCAGGCAGCTTCTGTGGTTAAGCAGGAAGGGGGTGACAATGACCTCATAGAGCGTATCCAGGTTGATGCCTACTTCAGTCCCATTCACCCCCAGTTGGATCATTTACTGGATCCTTCTTCTTTCACTGGTCGTGCCTCCCAGCAGGTAAGCTTCCAAGAAGCCTCTTTTCTGCTGGGCTGCAGAACCTGGGGTACTCTCTTTGATGTTTTTGCTTTATAGGAGGTATGGTGGGAATGGGCTAGTTAGAAGAAAATCAGAGCAGGTTGCTGGCTAAAACTTAGATATTTCGGTTTTGTTTCTGTTTTGTTTTGTTTTTTTGAGACAGAGTCTCTCATCCAGGCTGGAGTGCAGTGGTGCTGAGTGCAGTGGTGCTGGGATTATAGGCATGAGCCCCCACAACTGACCAAGATACCGCTGTTTTGAGCTGCCTTTATTTCTTTGTGTAGATTTTTTGGAATTATCTTTTGGTCTTGAGAATGTGGTATAATGGACAAAGAATTAGGTTTTATTGTCAGGTGGATCTGGGTTAAATCGTAACCTCTGGCATTTACTGGCTGAGAAGGTAAAAGTAAATATCTCAGTGTTGTAATGATTGAAATGCCTGAGTATATACTAGGTGCTCAGTATGTGTTCAGGTACTGTATTTAATTCTGGGGATTTTAAAATGAATAGATAGGCTGGGCGCAGTGGCTCACACCAGTAATCCTAGCATTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCTCAGGAGTTCAAGAACATCCTGGGCAACATGGTGAAACCTTGTCTCTACAAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCGCCTGTAGTCTCTGCTACTCAGGGCTGAGGCGGGAGGATAGCTTGAGCCTAGGAGGTCAAGGCTGCAGTGAGCCATATTCATTCCCTTGCCCTCTGGCTTGGGTGACAAAATGAGATCCTGTCTTAAAAAAAATACAAAGATGAATAGATAATCCTCATCTTCAGAGAGCTCAAAACTTAGTGGTGAATACTTGTAAATAGGTCATTATGATACCAAGCAGTACGTGCAAGGACTGAGGGCTAAAAGACTAAAACTGGAGGTAGGAGACCAATAAGGAGGCTACTGCAACGGGCCAAGCAGTAGATGATGAGAGCTTGAGTGAAGGCAGTGGTGAGAGACACAGACCGGGGAGGGAGAGGAGGTTAAGCTCTTGGTGGCTACTTGAAGAGGGCTGGGAAGCAGGAGGAAAGAAGCTGTGGTGATTTTTAGGTTGGATGGAAATGGTGAAACCACCTGAGAGAACACAGGCTGGGCCAGTTTGCGGGAAAGGTTGGTGAGCATGTGGGCATGGTGGTTGAATCATCTGTGTCTAGGCAGAAATTCCTGATAGGCAGTTGAGGAAAACAAGCTCAGTGTTGGAGTAAAAGCTTCATCAAATTAGGTTTCAGTGGTATCCCCTGACATTGGAAAAGGTATTATCTGCTAATATCTTAACATTTTCTTTTGTCTTGTATTTGCTTTCCTCTGGCAGGTGCAGAGATTCTTAGAAGAGGAGGTGTATCCCCTGTTAAAACCATATGAAAGCGTGATGAAGGTGAAAGCAGAATTATGTCTGTAGAGTTGGAAGAGAATTAAACGAAAATCATTGTTAATTGCTGAGGCATGAAAATTGTGTTACTATAATGCCTTATTTTACCTCGAGAATTGTTACCTTAAATTAGTACAGCACTTTCTTCTTCCCATGGTGCTTTCCTGTTTCTCAGTCTCACATTTCTCAACAAGGCAAAAACAAAGAGCGTTGAAGTTGACTCTGCTCTTGCATAGTAAATGTAGTTCATACTTGATCTCTGTTCTTTCAAGGCATATTTTCCAGCTGCCTCAAGTTTAGTCCTTTTCACGTGTTCATTTGCTTGTAAAGTAGCAAGAAATTTCTGGTCCTGTCTTCTAAAAGTGAATTTGATCTAGGTCTAGCAAAATAACCTGGACTCAGTGATTGAGTCAATGGTCAGATACCTTTTATTTCGGTTATTTTTGGCTAGTATAAGTGATGAAGTTTGGAACTACAGTAAATACTTAAAAAAAAAAAAAAAAAGAACCAAACCCTGATGTGACCATCAGGCTGATTGAGCTGAAGTTGTGCCCA 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Task1_train_28853 | A genetic alteration is present in XPNPEP3 (X-prolyl aminopeptidase 3) on Chromosome 22. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Nephronophthisis-like nephropathy 1 | GCATGATGCTGACCCTGATAGGACAGAAGCTTAAAGACTTGGGGATCATGAAGAACATTAAGGAAAATAATGCCTTCAAGGTACTTCACTTCTCTTGACCCCAGTTCTCAAGAACACCTAGCATGCTGCTAGGTTTTTACCCTATATAAAGCTAATTAGACTTAGAAATGGGACAGATGTAGTGATTCATGCCTGTAATCCCAGTAGTTTAGGAGGCTGAGGCAGGAGGATTGCTTGAAGCCAGCCTGGGCAACATAGCAAGACCCATCTATATACATGTAGATATATACACACACACACACACACACACACATATATATATACACACACATACGTAGATATATATACATACACACACAGGGTTTTTTAAGTAAAAAGAAAAGATTTAGAAATCATCTTTGTGATCTATAAAAGGGATTTAGCTTTAACATGGATTAAAACAAAGGAAGTCAGTACTTATTTCTTCCAGAAGATGGCAGCACATGCTGATTCATTACATGCTGCATAACTAGCTCAGTATTCAGAAAACTTAAAATGAAGTCTGGTGCCGACAGGGTGAAAAAGGAAACAAGAAATGAGGAGAAGCCTGGGAAACATAGCAAGACCCTATCTCTACAAAAAATTTAAAAGTTAGCCAGGTGTGGTGGCACACACCTCTAGTCTCAGCTACTTGGGAGGTTGAGGTGGGAGGATCACTTGACCCCAGAAGTTCAACGCTGCAGTGAGCTATGTTCGCACCACTGCACTCCAACCCGGGCCACAGAACAAGGCCCTGTGTCTAAAAAAAAAAAAAAGAGAGAGAGATTAACTTTTAATCCTTTTATGGGTTATTCTGTAGGTCAAAGGAGAAGGTATTTGTTGTTTAAGTGACATTTTTGACACTTCAGCAATATTCCCAAAGACCATGTCATTAGTGAATTTTTTTTCTGCATCCAAAATGTGATGGTGTTCAGTAAAAACGTAAAACCTCAGCTTTAAAATTAAGATACTAGATGCCTAAGTCAGATAGACCATTAGGCATCTCCTACCTACAAGTTAAGCCTTCTAGGACTTCTGTTATCAGTAAAAATGAAGCTATAAATTGGCTGTTGCTTGGGCCAACAAATCTTTAACTAACTGACGGAAATATCCAAGCTGGCTGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGCGGATCACATGAGGTCAGGAGTTCGAGACCAACCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTACATGACTATAATCCCGGCTATTTGGGAGGCTGAGGTGGGAGAATAGCTTGAACCCAGGAGACAGAGTTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAGCAGAGCAAGACTCCATCTCAAAAAAAAAGAAAGAAATACCCAAGCTGGTAGGTGCCCAAAAGTGTGCCTTCTCCACAAGTTGCTGTGAGCTATTTAGGGTCTCCAGAGTAGATTCCTGAGAGGGATGTGTGAACGAACATTGGAAAGAGAACTGTGATAATAGTCATCCTCTCTTTCCCAAGAAAAGAGATTTTTTTTTCTTTCTTTTATTTTTATCTTTCCTGTGGTACTGAAGAAAAGAGACTTTCATTTGCCACAGTCATTAGTTGGAATTACTCAAGTCTGCATGTATGTAGTATATTAAATAGCGGGAATGGAAATGTGGATTGATGAGAATGCCATTGGCAGAATTGCATGTAAGAGGTCGCAGTTTTTCAGGTGCCTTTAAGTATTAGCCCAAGGAGGGATTAAACTGAAGTGGCAGAACCATGGGGGAGATAATAACACATATCTCACTGATTTATACTTGCCCAGCATTCCCTGTAAGAGGTCATTGCTCTAATGATACTGTGACAATTATCTTTTCCAGGCTGCTCGAAAATACTGTCCTCATCATGTTGGCCACTACCTCGGGATGGATGTCCATGACACTCCAGACATGCCCCGTTCCCTCCCTCTGCAGCCTGGGATGGTAATCACAATTGAGCCCGGTAAGGAGAGGTGTTACAATAGTAGTATGAGGTAAATGTTTGTTTGTTTGTTTGTTTTTGAGATGGAGTTTTGCTCTTTCGCCCAGGCTGGAGTGAAGTGGTGTGATCTTCACTCACTGCAACCTCCGCCCCCCAGGTTCAGCAATTCTCCTGCCTCAACCTCCTGAGTATCTGGGATTACAGGTGTCGGCCACCACGCCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTATCTCAGTCTCCCAAAGTGCTAGGATTATACGTGAGCTACCGCGCCCAGCCACATTGTTTATTTTTACCTCAACCAATGTAATTAAGTTAGAAGAGACAGGAAAAAAAGTCCAGTGTGGAAGGTAATTTTATTTTCGATTTATCTTTTGTATTCTTATTTAATATCACACAATTTGTTCAGTTTGACTCCTCCAATAAACAACAGATGGGGAATACTTCCTATAAGTAGATATTAAGAAATGAATCTTTTTTAATCCTGCCTTTCCCAGGGCCAGTTTGTACTGGTCTCCCATTTAGTAGTGGGGGGCTGCTCAAGCTTCCAAAGCCCCCGGTGCTTGTGTGCAGAGAGACAGGCAGACACACTATGCTCTCAGTTTCAACACCTCTGCAAGCTGCATTGAGCTACCCAGCACCATCCCACTCCTTAGTATCCATCGCCTTCCTCATAAGCTTCAGAGAAAGCTAACAATCGGATACGTTACCTAACTTGAATGGTCCTGGGTGTTGGGCAGGATTCTGAAGAGAAGCAGTGACCACAATGGTGTGTGAAGATTGATGTTGTCAGAGTTGATGGTTAAATACTGATGCTGGTTTTGTTTTGAAAACAGATCTAAATTTTAGATTTCAAGTATTTTAATCTCTGTATAAATTATGGCTGTGAAATGTCTTTTATGCCACCCTTTGAACCTAGTCATACATTGCTATCTGTGGCCATAGATATATCATTTAGTTCAATCTGTTTGGTACATGGGCGCTTCCTTAGACTGCGCTACATTTTCCTTTGCTGATCTTTCTTTTTCAATCGCAGAGCAGTATCTGTGAGGATAGTGGAGGAAGTTTACAACTTGTTTAATATAAAAAGCCCTGGTATGTGTCTAACTTCATGATTAGAAAGGGTACCTGGGGTTCCTACATTTTTCCAAATGTACATTAAAGTCTTTCAGTTTCTCTTGTATTTTATATTACACACATCAGATATATTTAAATCTTATAATGACTGTCTCTGCAGCTTCCAGTTGTCAAGGCTAATAATCTCTAAATGTTTCTTTGAATACAGTTTAAATATATTTTGTCTTTATTTTTGCAAGGTGCTCTTTTTCCAAGGGACTCTTAGGCAGGGGAAGAATGCACTTACATAATCTGCTTGTCCCCCACATATATTGACGTACTTTTAAATTAAGTAACTTTATTGGCCTGCTTGAGCCACTAGAATATGACAGAATCATGATCAGCATTGCCGTAGTTGTATTTAGCTTGTAGTCCAATATAAAGATAACCACAATAATAATTTTAGTAATGATACCAACATGTGTTGACCATTATATGCCAGCCACTTTGACATGTATTATCTCATTTAATCCTCACAGCTTTACTAGGTAGGTACCATAAAGATCCAGTATTACAGAGGAAGGAATTTTAACCCAGAGGTTAACTTACTTGCCCCAAACCACCCAGTTACTATCATTCCTGAACAGCATGTTCTTCTTTCTACTTCACAGGCATTTATATTCCAGAGGATGACAAAGATGCCCCAGAGAAGTTTCGGGGTCTTGGTGTACGAATTGAGGATGATGTAGTGGTGACTCAGGACTCACCTCTCATCCTTTCTGCAGACTGTCCCAAAGAGATGAATGACATTGAACAGATATGCAGCCAGGCTTCTTGACCTTCACTGCGGCCCACATGCACCTCAGGTTCAAAATGGGTGTCTTCTGGCAGCCCTGCACGTGTGCTTTCTGAGTGTCTCTGTGTGTGCATTA 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GCATGATGCTGACCCTGATAGGACAGAAGCTTAAAGACTTGGGGATCATGAAGAACATTAAGGAAAATAATGCCTTCAAGGTACTTCACTTCTCTTGACCCCAGTTCTCAAGAACACCTAGCATGCTGCTAGGTTTTTACCCTATATAAAGCTAATTAGACTTAGAAATGGGACAGATGTAGTGATTCATGCCTGTAATCCCAGTAGTTTAGGAGGCTGAGGCAGGAGGATTGCTTGAAGCCAGCCTGGGCAACATAGCAAGACCCATCTATATACATGTAGATATATACACACACACACACACACACACACATATATATATACACACACATACGTAGATATATATACATACACACACAGGGTTTTTTAAGTAAAAAGAAAAGATTTAGAAATCATCTTTGTGATCTATAAAAGGGATTTAGCTTTAACATGGATTAAAACAAAGGAAGTCAGTACTTATTTCTTCCAGAAGATGGCAGCACATGCTGATTCATTACATGCTGCATAACTAGCTCAGTATTCAGAAAACTTAAAATGAAGTCTGGTGCCGACAGGGTGAAAAAGGAAACAAGAAATGAGGAGAAGCCTGGGAAACATAGCAAGACCCTATCTCTACAAAAAATTTAAAAGTTAGCCAGGTGTGGTGGCACACACCTCTAGTCTCAGCTACTTGGGAGGTTGAGGTGGGAGGATCACTTGACCCCAGAAGTTCAACGCTGCAGTGAGCTATGTTCGCACCACTGCACTCCAACCCGGGCCACAGAACAAGGCCCTGTGTCTAAAAAAAAAAAAAAGAGAGAGAGATTAACTTTTAATCCTTTTATGGGTTATTCTGTAGGTCAAAGGAGAAGGTATTTGTTGTTTAAGTGACATTTTTGACACTTCAGCAATATTCCCAAAGACCATGTCATTAGTGAATTTTTTTTCTGCATCCAAAATGTGATGGTGTTCAGTAAAAACGTAAAACCTCAGCTTTAAAATTAAGATACTAGATGCCTAAGTCAGATAGACCATTAGGCATCTCCTACCTACAAGTTAAGCCTTCTAGGACTTCTGTTATCAGTAAAAATGAAGCTATAAATTGGCTGTTGCTTGGGCCAACAAATCTTTAACTAACTGACGGAAATATCCAAGCTGGCTGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGCGGATCACATGAGGTCAGGAGTTCGAGACCAACCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTACATGACTATAATCCCGGCTATTTGGGAGGCTGAGGTGGGAGAATAGCTTGAACCCAGGAGACAGAGTTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAGCAGAGCAAGACTCCATCTCAAAAAAAAAGAAAGAAATACCCAAGCTGGTAGGTGCCCAAAAGTGTGCCTTCTCCACAAGTTGCTGTGAGCTATTTAGGGTCTCCAGAGTAGATTCCTGAGAGGGATGTGTGAACGAACATTGGAAAGAGAACTGTGATAATAGTCATCCTCTCTTTCCCAAGAAAAGAGATTTTTTTTTCTTTCTTTTATTTTTATCTTTCCTGTGGTACTGAAGAAAAGAGACTTTCATTTGCCACAGTCATTAGTTGGAATTACTCAAGTCTGCATGTATGTAGTATATTAAATAGCGGGAATGGAAATGTGGATTGATGAGAATGCCATTGGCAGAATTGCATGTAAGAGGTCGCAGTTTTTCAGGTGCCTTTAAGTATTAGCCCAAGGAGGGATTAAACTGAAGTGGCAGAACCATGGGGGAGATAATAACACATATCTCACTGATTTATACTTGCCCAGCATTCCCTGTAAGAGGTCATTGCTCTAATGATACTGTGACAATTATCTTTTCCAGGCTGCTCGAAAATACTGTCCTCATCATGTTGGCCACTACCTCGGGATGGATGTCCATGACACTCCAGACATGCCCCGTTCCCTCCCTCTGCAGCCTGGGATGGTAATCACAATTGAGCCCTGTAAGGAGAGGTGTTACAATAGTAGTATGAGGTAAATGTTTGTTTGTTTGTTTGTTTTTGAGATGGAGTTTTGCTCTTTCGCCCAGGCTGGAGTGAAGTGGTGTGATCTTCACTCACTGCAACCTCCGCCCCCCAGGTTCAGCAATTCTCCTGCCTCAACCTCCTGAGTATCTGGGATTACAGGTGTCGGCCACCACGCCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTATCTCAGTCTCCCAAAGTGCTAGGATTATACGTGAGCTACCGCGCCCAGCCACATTGTTTATTTTTACCTCAACCAATGTAATTAAGTTAGAAGAGACAGGAAAAAAAGTCCAGTGTGGAAGGTAATTTTATTTTCGATTTATCTTTTGTATTCTTATTTAATATCACACAATTTGTTCAGTTTGACTCCTCCAATAAACAACAGATGGGGAATACTTCCTATAAGTAGATATTAAGAAATGAATCTTTTTTAATCCTGCCTTTCCCAGGGCCAGTTTGTACTGGTCTCCCATTTAGTAGTGGGGGGCTGCTCAAGCTTCCAAAGCCCCCGGTGCTTGTGTGCAGAGAGACAGGCAGACACACTATGCTCTCAGTTTCAACACCTCTGCAAGCTGCATTGAGCTACCCAGCACCATCCCACTCCTTAGTATCCATCGCCTTCCTCATAAGCTTCAGAGAAAGCTAACAATCGGATACGTTACCTAACTTGAATGGTCCTGGGTGTTGGGCAGGATTCTGAAGAGAAGCAGTGACCACAATGGTGTGTGAAGATTGATGTTGTCAGAGTTGATGGTTAAATACTGATGCTGGTTTTGTTTTGAAAACAGATCTAAATTTTAGATTTCAAGTATTTTAATCTCTGTATAAATTATGGCTGTGAAATGTCTTTTATGCCACCCTTTGAACCTAGTCATACATTGCTATCTGTGGCCATAGATATATCATTTAGTTCAATCTGTTTGGTACATGGGCGCTTCCTTAGACTGCGCTACATTTTCCTTTGCTGATCTTTCTTTTTCAATCGCAGAGCAGTATCTGTGAGGATAGTGGAGGAAGTTTACAACTTGTTTAATATAAAAAGCCCTGGTATGTGTCTAACTTCATGATTAGAAAGGGTACCTGGGGTTCCTACATTTTTCCAAATGTACATTAAAGTCTTTCAGTTTCTCTTGTATTTTATATTACACACATCAGATATATTTAAATCTTATAATGACTGTCTCTGCAGCTTCCAGTTGTCAAGGCTAATAATCTCTAAATGTTTCTTTGAATACAGTTTAAATATATTTTGTCTTTATTTTTGCAAGGTGCTCTTTTTCCAAGGGACTCTTAGGCAGGGGAAGAATGCACTTACATAATCTGCTTGTCCCCCACATATATTGACGTACTTTTAAATTAAGTAACTTTATTGGCCTGCTTGAGCCACTAGAATATGACAGAATCATGATCAGCATTGCCGTAGTTGTATTTAGCTTGTAGTCCAATATAAAGATAACCACAATAATAATTTTAGTAATGATACCAACATGTGTTGACCATTATATGCCAGCCACTTTGACATGTATTATCTCATTTAATCCTCACAGCTTTACTAGGTAGGTACCATAAAGATCCAGTATTACAGAGGAAGGAATTTTAACCCAGAGGTTAACTTACTTGCCCCAAACCACCCAGTTACTATCATTCCTGAACAGCATGTTCTTCTTTCTACTTCACAGGCATTTATATTCCAGAGGATGACAAAGATGCCCCAGAGAAGTTTCGGGGTCTTGGTGTACGAATTGAGGATGATGTAGTGGTGACTCAGGACTCACCTCTCATCCTTTCTGCAGACTGTCCCAAAGAGATGAATGACATTGAACAGATATGCAGCCAGGCTTCTTGACCTTCACTGCGGCCCACATGCACCTCAGGTTCAAAATGGGTGTCTTCTGGCAGCCCTGCACGTGTGCTTTCTGAGTGTCTCTGTGTGTGCATTA 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Task1_train_28854 | The gene EP300 (E1A binding protein p300) is located on Chromosome 22, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | CTAAACCTTAAGGCAGTACATCTCTAACTTTGAAAAGAGTAGGAACAAGACCCTTCCCAATTCTGCAGGCCTGTAGTGGATCCAAGTGTCTATTTCTAACTCCCAGATTGTTCTGGTGCTGCTCATCTTCAGATTGCACTTGGAGTAGCAAGACAGGCCATTCAGGAAAATGCTATTAACAGAGATGAATGAATCTCTAGGCCATAACTAGTATAAGAAACGGTTTTCAATGTGGACATGTCCTCATTTTTGTAAGGAAGTATAACAGAAGTCCAAGTTGGTCCCCCTAATGTTGATTCTAGTTGGAGAATGTGGATCCTAGTTGGAGAATGGTAAGACTGTTAGCTTTTGTATGTAGTGAGGCTATGAGCAGTGTGTTATGCTGGGTTTCAGGATGGGAAGCCATGATACCTAACACCAAGAATAGTAACAGACAAGATTTTAAAAGGAAAAGAAGAAACAGTATTTCTAGTTCTTCCTGGGTTCTCCATTTCTGATAAGAGGAAATTTATTTACTATGAAGTCCTATAGAATATTCCTTTACATAAACATGCATTTTGTGTGAGCCAAGAATACACCTATTTAAATGTGTATTCTTAAAAAACCTGAATCTCTATATAGGGTGAAGTTTGTTCCTTTGGTTAGAACAGCAGTCAGATTGCTCATCTCTATCACTTTTTCTCATTGTGTCCCTTTTCTCTCCTTAGTACAATAAATAAAGAACAATTTTCCAAGAGAAAAAATGACACACTGGATCCTGAACTGTAAGTACGATCCCCTTGAATAGTCAGTACGCTTTGGCTTTTCTTTTTCCCTTTCATTCTCTTGAAGTTTGCATGACCAATCAGATGATCCTATATTCTTGGGCTAAATCTACATAACATACATCTAATGGATAGTAAAACCATGGAAAACACTGAAGTACTAAGGAACATTATTTCTTAATGTTAATTTTAATGTTCTTAATGTTGAATGTGAAACATTAAAGATCTAAACTTCTAGTTTGCAGTGAGGCCTTTTAGATCATGGAGGACTGACATGTATGTCTTCTAGATGTTCCTAAAATGGATGGGATGGTATTTGGATTTATTTGGAATTTTCAGCACCAGGAATCTGTCTTAAAAATTAGCCAGGTTTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTTTGGCCGGGCACAGTGGCCCACATCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGATCACCCAAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGCAAAATCCCGTCTCTACTACAAATATATAAATTAGCTGTGCGTGGTGGTGCGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTGGAACCCGGGAGGCAGGGGTTGAAGTGAGCTGATATGACGCCACTGCACTCCAGCCTGGGCGACACAGAGAGACTCCATCTCAGAAAACAAAACAAAAAACAGCCAGGCATGATAGTATGTGCCTATCCTAGCCAGGTAGCTGAGAGGCCAAGGCAGGAAAATGGCTTGAGCCCAGGAGTTTAAGGTTGTAGTGAGCTGTGATCATGCCACCCACTCCAGCCTGTACAACAGAGACCCTATCTCTAAAAAAATAGAAACTTTATTAAAACTATTTTCAGTTCTTTGGTCATGACCTTGGCTGTCTTTGTCAGAAGTCATGGGAAATATTGCAAGTTTTCATTTGGTTAAGGTTTGGGGTTAATTTTGGAATTGGCTCTGCTCTTCCAGGTTTGTTGAATGTACAGAGTGCGGAAGAAAGATGCATCAGATCTGTGTCCTTCACCATGAGATCATCTGGCCTGCTGGGTAAGTCTTAACGTTGTTACTTTCTCTGGAATTTTTCTTTATCGTGAATATTAACAAGTTTTTTATTCTATGCAATTGACTGTATTATATCTTCAAAGTTACTATCTTTAAATTGTTTTCTTTGGGTTTGGCCACGATAATTATAGTTCGCTTTTTAAAAATTAAGTAACCTAGTATCCAAAAATAGATTTTTATCTTATTTTTATGCATTCTTCTTAGCCATATAAATATATTTTATTCTGCTGGATTGTTTATTAAAATTATATTGTAGTTATTACACATCAAAAGTAAATATTTATGGCCAGGCGAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGACAGGGGTTCCAGACCAGCCTGACCAACATGGCAAAACCTCGTGTCTACTGAAAATACAAAAATTAGCCTGGCGTGGTGGTGCACGCCTGTAATCCAGCTACTCAGGAGGGAGGCTGAGGGAAGAGAATCACTTGAACCTGTGAGGGGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGAAAAAAGTAAATGCTTTTGTTCCGGCATCTAGAAACTAGGATCATGCTGCTGGCATGAATAGGTCTGGCCCTGGTAAGGGTCACCATTTGGTTAGGGCAGGAACAGCAAGTTATAAGGCTGCAGTCATAGTGTAATTGCCTAGTAAAAGGGAGGGGCCATCGCTCTGTACAAGAGGAACTAATCCCAGCCATGTTCCAAAGGAAGCGGGTATATGGGACATCCAGTGCCTCTCATTAAGATGGGATCTCCATCTCTTCTGCTCTGTTCTTGGGCTGATTGTTGTTCCTGATTTGGAGGTTACAAGAAAGGGCAGGCTAATTGACAGATTTCACTTTTCTTTTTTTCACCGTTATTTTCACATAGAAAATAACACTAAGGAAAATAGGTGATGGTTTAGTGGATACTTTATTTTCAGTGTGACTTGTCTTTTAAGTGTGCCTTTTTAGTGCTTTCCTTAACAGATTTCGTAAGAATGATTAAGAGACTTCTTGTGGTTCTTCTAATTTAGGATCAGTCAACTGAATGAAAATAATCTGTTATTACTGTGTTAAGCTTGCTTTTTCTTAAAAGTAATTTATGTTCATTATAAAATTTGAATAGTATGACAGTTTATGAAGTAAAAAGCGACGGTCTCAGCTTCTCTCTTCCCACCCAGATTCCTCACTACAGGAATAACACTCTTTTGTACATACAATCATACATTTTCTTTTTTTCTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGTGTGTGCCACCATGCCCGGCTAATTTTTGTATTTTGGTAGAGACAGGGTTTCATCATATTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTCGGCCTCCCGAAGTGCTGGGATTACAGCATGAGCCACTGCACCTGGCACATTTTCTTGATTTATGTGTATTTAATTTTTAATTTTTGTATTTTGTTATAAGTCATAGACTTTTTTAATTGAGTCTCACTTTCATCACCCAGGCTGGAGTGCAATGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAGGCAATTCTCCTGCCTCAGCCTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGATTACAGGCACATACCACCATGTCTGACCAATTCTTGTATTTTTACTAGAGACAGGGTTTCATTATGTTGGTCAGGGTGGTCTTGAACTCCTGACCTCAAAAGATCCACCCACCTCGACCTCCCAAAGTACTGGGATTACAGGCGGGAGCCACCACGCCTGGCTGGTCATAGACACTCATTTATGTCTGCT 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CTAAACCTTAAGGCAGTACATCTCTAACTTTGAAAAGAGTAGGAACAAGACCCTTCCCAATTCTGCAGGCCTGTAGTGGATCCAAGTGTCTATTTCTAACTCCCAGATTGTTCTGGTGCTGCTCATCTTCAGATTGCACTTGGAGTAGCAAGACAGGCCATTCAGGAAAATGCTATTAACAGAGATGAATGAATCTCTAGGCCATAACTAGTATAAGAAACGGTTTTCAATGTGGACATGTCCTCATTTTTGTAAGGAAGTATAACAGAAGTCCAAGTTGGTCCCCCTAATGTTGATTCTAGTTGGAGAATGTGGATCCTAGTTGGAGAATGGTAAGACTGTTAGCTTTTGTATGTAGTGAGGCTATGAGCAGTGTGTTATGCTGGGTTTCAGGATGGGAAGCCATGATACCTAACACCAAGAATAGTAACAGACAAGATTTTAAAAGGAAAAGAAGAAACAGTATTTCTAGTTCTTCCTGGGTTCTCCATTTCTGATAAGAGGAAATTTATTTACTATGAAGTCCTATAGAATATTCCTTTACATAAACATGCATTTTGTGTGAGCCAAGAATACACCTATTTAAATGTGTATTCTTAAAAAACCTGAATCTCTATATAGGGTGAAGTTTGTTCCTTTGGTTAGAACAGCAGTCAGATTGCTCATCTCTATCACTTTTTCTCATTGTGTCCCTTTTCTCTCCTTAGTACAATAAATAAAGAACAATTTTCCAAGAGAAAAAATGACACACTGGATCCTGAACTGTAAGTACGATCCCCTTGAATAGTCAGTACGCTTTGGCTTTTCTTTTTCCCTTTCATTCTCTTGAAGTTTGCATGACCAATCAGATGATCCTATATTCTTGGGCTAAATCTACATAACATACATCTAATGGATAGTAAAACCATGGAAAACACTGAAGTACTAAGGAACATTATTTCTTAATGTTAATTTTAATGTTCTTAATGTTGAATGTGAAACATTAAAGATCTAAACTTCTAGTTTGCAGTGAGGCCTTTTAGATCATGGAGGACTGACATGTATGTCTTCTAGATGTTCCTAAAATGGATGGGATGGTATTTGGATTTATTTGGAATTTTCAGCACCAGGAATCTGTCTTAAAAATTAGCCAGGTTTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTTTGGCCGGGCACAGTGGCCCACATCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGATCACCCAAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGCAAAATCCCGTCTCTACTACAAATATATAAATTAGCTGTGCGTGGTGGTGCGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTGGAACCCGGGAGGCAGGGGTTGAAGTGAGCTGATATGACGCCACTGCACTCCAGCCTGGGCGACACAGAGAGACTCCATCTCAGAAAACAAAACAAAAAACAGCCAGGCATGATAGTATGTGCCTATCCTAGCCAGGTAGCTGAGAGGCCAAGGCAGGAAAATGGCTTGAGCCCAGGAGTTTAAGGTTGTAGTGAGCTGTGATCATGCCACCCACTCCAGCCTGTACAACAGAGACCCTATCTCTAAAAAAATAGAAACTTTATTAAAACTATTTTCAGTTCTTTGGTCATGACCTTGGCTGTCTTTGTCAGAAGTCATGGGAAATATTGCAAGTTTTCATTTGGTTAAGGTTTGGGGTTAATTTTGGAATTGGCTCTGCTCTTCCAGGTTTGTTGAATATACAGAGTGCGGAAGAAAGATGCATCAGATCTGTGTCCTTCACCATGAGATCATCTGGCCTGCTGGGTAAGTCTTAACGTTGTTACTTTCTCTGGAATTTTTCTTTATCGTGAATATTAACAAGTTTTTTATTCTATGCAATTGACTGTATTATATCTTCAAAGTTACTATCTTTAAATTGTTTTCTTTGGGTTTGGCCACGATAATTATAGTTCGCTTTTTAAAAATTAAGTAACCTAGTATCCAAAAATAGATTTTTATCTTATTTTTATGCATTCTTCTTAGCCATATAAATATATTTTATTCTGCTGGATTGTTTATTAAAATTATATTGTAGTTATTACACATCAAAAGTAAATATTTATGGCCAGGCGAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGACAGGGGTTCCAGACCAGCCTGACCAACATGGCAAAACCTCGTGTCTACTGAAAATACAAAAATTAGCCTGGCGTGGTGGTGCACGCCTGTAATCCAGCTACTCAGGAGGGAGGCTGAGGGAAGAGAATCACTTGAACCTGTGAGGGGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGAAAAAAGTAAATGCTTTTGTTCCGGCATCTAGAAACTAGGATCATGCTGCTGGCATGAATAGGTCTGGCCCTGGTAAGGGTCACCATTTGGTTAGGGCAGGAACAGCAAGTTATAAGGCTGCAGTCATAGTGTAATTGCCTAGTAAAAGGGAGGGGCCATCGCTCTGTACAAGAGGAACTAATCCCAGCCATGTTCCAAAGGAAGCGGGTATATGGGACATCCAGTGCCTCTCATTAAGATGGGATCTCCATCTCTTCTGCTCTGTTCTTGGGCTGATTGTTGTTCCTGATTTGGAGGTTACAAGAAAGGGCAGGCTAATTGACAGATTTCACTTTTCTTTTTTTCACCGTTATTTTCACATAGAAAATAACACTAAGGAAAATAGGTGATGGTTTAGTGGATACTTTATTTTCAGTGTGACTTGTCTTTTAAGTGTGCCTTTTTAGTGCTTTCCTTAACAGATTTCGTAAGAATGATTAAGAGACTTCTTGTGGTTCTTCTAATTTAGGATCAGTCAACTGAATGAAAATAATCTGTTATTACTGTGTTAAGCTTGCTTTTTCTTAAAAGTAATTTATGTTCATTATAAAATTTGAATAGTATGACAGTTTATGAAGTAAAAAGCGACGGTCTCAGCTTCTCTCTTCCCACCCAGATTCCTCACTACAGGAATAACACTCTTTTGTACATACAATCATACATTTTCTTTTTTTCTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGTGTGTGCCACCATGCCCGGCTAATTTTTGTATTTTGGTAGAGACAGGGTTTCATCATATTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTCGGCCTCCCGAAGTGCTGGGATTACAGCATGAGCCACTGCACCTGGCACATTTTCTTGATTTATGTGTATTTAATTTTTAATTTTTGTATTTTGTTATAAGTCATAGACTTTTTTAATTGAGTCTCACTTTCATCACCCAGGCTGGAGTGCAATGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAGGCAATTCTCCTGCCTCAGCCTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGATTACAGGCACATACCACCATGTCTGACCAATTCTTGTATTTTTACTAGAGACAGGGTTTCATTATGTTGGTCAGGGTGGTCTTGAACTCCTGACCTCAAAAGATCCACCCACCTCGACCTCCCAAAGTACTGGGATTACAGGCGGGAGCCACCACGCCTGGCTGGTCATAGACACTCATTTATGTCTGCT 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Task1_train_28855 | A variant was discovered on Chromosome 22, affecting EP300 (E1A binding protein p300). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | ATGAGATTTGAGGTTGAACCTTAAGACTAACAACAGTAAATTTGCACCTCAGTAACTTTTAACTTTTACATTCCTAGGGTTGCCATCTACCAGACTTGGCACCTTTCTAGAGAATCGTGTGAATGACTTTCTGAGGCGACAGAATCACCCTGAGTCAGGAGAGGTCACTGTTAGAGTAGTTCATGCTTCTGACAAAACCGTGGAAGTAAAACCAGGCATGAAAGCAAGGTATCTAGTCATTTCACTTTTCTTCTCCTCGTGGATCCAAAATTGCTCATACATGGTTACTATTGGTGATTCCAGTCTGAATGAGTTATGTTGTGGTTCCCCCACCATCTCAATTGTATAGGTTTGTGGACAGTGGAGAGATGGCAGAATCCTTTCCATACCGAACCAAAGCCCTCTTTGCCTTTGAAGAAATTGATGGTGTTGACCTGTGCTTCTTTGGCATGCATGTTCAAGAGTATGGCTCTGACTGCCCTCCACCCAACCAGAGGTATGACTAGCTCACAGTGGCTAGCTCCGGATTTGTGTGGGAGTTCCAACTTATAATAGGTGGAAAAGCATAACAGGCAAGAAAATGTTTAGTGTGTTTGGTTTGGAAATGCAAAATCTCAAGTGTCCAGTAATTTTAAAGTGAAACAGATTAAAAAGCAAACCCCCAAACAAAATAACCGCTCAATACTGCTCTTCTGTGGTCATAGTAATAAAGGATATGAATAGCAACCTGAAATTGGAATTTGAAAACAAACGTACTACTCTTCAGAAAATGAGCTTAAATCTGGATTAAGTAGCTATGTGAAAATATATCATACAAATCGGGTGGGAATTTCTTTTCTCCAAAAATAGTATAAAGGCAATAATAAAAACGTATAGGGATCACCAAATACTGATTGATGTGTATGTGCCAGGCACTGCTAGTTACTACAAATAGAAGGAAACCACAGGCTCACTGAACTTCCCTGAAGGGTTCACGGCGGAGTCGCCTACCTGCCTGTGATGAGCTTCACAAATAACGATGTGAGCAAAGAGCCTGGGAGAGTGAGAGGGTGTTATTAGGCACATGGAGTAAAGAACTCATTATGTGACCTGACTTTTTTTTTCCTCTTCATTTCTCTTCATTTTGTATAGGAGAGTATACATATCTTACCTCGATAGTGTTCATTTCTTCCGTCCTAAATGCTTGAGGACTGCAGTCTATCATGAAATCCTAATTGGATATTTAGAATATGTCAAGAAATTAGGGTAAGCATATTTTGATAATGGCTTTTTTTCTTTAACTAGCATGGCATTCTGGTGAGATATAGGTTAAATATGCAAATATATAACTCTTGGCCTTTTTTTCCTCATTTTAGTTCTTACGTAACAATTCTCTTAACTTTGTTGGAGCCCCTTTGAAGTTAATGTCAGTAGAGAGAAATGGATATGTTGGCCCTAGTTTCACCCATCCAACATTAGTTTTGTTTGTAAGCTAAGCCATTGGGTCCACTTTGCTTTGAAGTTTGATTTGTGCCCCTCATTTGAGGGCAGAATTTTAACTGCATTTGATCCTTTTACAACCTGGGTATGAAGACCAAAAACAGTTCTGGAGATACTTCTTACCTTTAGAGTATGTATGTCATTGGAAACATTCACTCCCTCATCTTGAAGTCTGTTTCTCTGAACAGTGTGCCTTTTAATTTAGCTCTTGTTAAATGGGTCCATTTTCCTTTGCAGTGTAATCTTCATTTGGTCTTAACATGCAGACTTAGGGTTTTTGGATCCAGGGCTAAGTCACCCACTTCGTGGCTGAGATTCGCAACATCCCACCATGGCCTCCAAAAATAAGTAGGCAATATGAGATCCATTGTTACTACTGTGAGTTATGCCTAATTTTGGCCTCACAATGTTAATCTCATTCTGGGTTATATATACACTGTGTTATCTTGGGAAAAATTATTGGTATCTATATCAACTCCAACTTGTGGTTTAAAATGTAGCCTTCTAGAATAGATTATCTCTTTTCCTTAATGTTCTTTCTCTTTGTATTGTTAGTTACACAACAGGGCATATTTGGGCATGTCCACCAAGTGAGGGAGATGATTATATCTTCCATTGCCATCCTCCTGACCAGAAGATACCCAAGCCCAAGCGACTGCAGGAATGGTACAAAAAAATGCTTGACAAGGCTGTATCAGAGCGTATTGTCCATGACTACAAGGTCAGTTGGGACATAGGGGCCAGGTGCTGACAATAGATCTGGAAATGCACTAATGTTGCTGCTCTTTGTTCTGTCATTTAACTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACGCAGGCTGGAGTGCAGTGACACGATTTTGGCTCACTTCAAGCTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCTCCTGCCATCACACCCGGCTAAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTTTTTTTTTTTTTTTTAAACAAAAGTCTTGCTTGTTCTACCTCTTGCATGTAATTCCTAAAAATGCTAATTTGATTGCTTTTATTTTGTATATTCAAAATTTTTCAATATAAGAAAAACCAGGTTTTGAAGAGCGGTAGATCAAGAAATCCCTGTTTTAAACATGTAACCAAAATTTTATTTTATTTATTTTTGGGGGGAGGGTGGGGATAGAGTTGGGGTATCGCCATGCTGCCCAGGCTGGACTTGAACTCTTGGCCTCAAGCATTCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTTAAAATATATCTTTTTGTTTTGGTTTTTTGTTGGTTTGGTTTGGGTTGGTTAGGGTTTTAGGGGTGTGGGTGTTTTGTTTTCAGAAAGGGTCACTCTCTGTCACCCAGGCTAGGGTGCAGTGGCATGATACCCGCTCATTGCAACCTGTGCCTCCCAGGCTCAAGCCATCCTCCCATCTCAGCTTCCTGAGTTGCTGGGACTAGGTGCACACTACGAGAGCTAGCTGATTTTTGTATATTTTTTGTAGAGACAGGATGTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTAGGATTATAGGCATGAGCCACATCACCCAGCCAAAAATATATTCTCCCTTTTTTTTTTTTGGACGGAGTTTCAGGCTGGAGTGCAATGGTGCAGTCTCCTGGGTTCAAGTGATGGTCCTACCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCAAGCCAGGCTAATTTTTTCTATTTTTAGTAGAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACTGCACCTGGCCAAAAATATATTCTTAATTAACAGTATTATGTTATTCATAAATATAGGTTGTCTCATGATACAGACTTGTCTTCCTCAATTTAGTAGTTCAACTAAATAAAGAAGTTTTCCTAAGCAGCCCAGCAAATCATTCTGCAGCAGATACTATTTCCAGTATTTGTAGTTTTGGTCATTTTGAACAAAGCTGTCAGTAAAAGCTGCTGAAATTCCAAGGATGGGTGTGAGGAGGGCATGCTTCATACCACATATTCTGTGATAAGGAGTGGTAGGGGCCATGGCATGCATGATGGTGCTACCACCCTGACGTTGATCCTGGCAGGATAATTGCCACTTGGTTATATAAAGGCAGATAAGCTCCCTGTTTTTGTGGGTAGAAGAAATAGAAAACCGGAAATATTGACTTTAGGCCAGGCCTTTTCACTATTTATTTTTCTAAATACTCCCTGGCTTACGGCTTAGGTATAAAGTCTCTGCCAGCTTTCAAGACATTTTAAGCTTTCATGTTTCTTGTCAGCCATGATTATTCTGTATAATCAATGCTTTAAAAGAACATAGA 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ATGAGATTTGAGGTTGAACCTTAAGACTAACAACAGTAAATTTGCACCTCAGTAACTTTTAACTTTTACATTCCTAGGGTTGCCATCTACCAGACTTGGCACCTTTCTAGAGAATCGTGTGAATGACTTTCTGAGGCGACAGAATCACCCTGAGTCAGGAGAGGTCACTGTTAGAGTAGTTCATGCTTCTGACAAAACCGTGGAAGTAAAACCAGGCATGAAAGCAAGGTATCTAGTCATTTCACTTTTCTTCTCCTCGTGGATCCAAAATTGCTCATACATGGTTACTATTGGTGATTCCAGTCTGAATGAGTTATGTTGTGGTTCCCCCACCATCTCAATTGTATAGGTTTGTGGACAGTGGAGAGATGGCAGAATCCTTTCCATACCGAACCAAAGCCCTCTTTGCCTTTGAAGAAATTGATGGTGTTGACCTGTGCTTCTTTGGCATGCATGTTCAAGAGTATGGCTCTGACTGCCCTCCACCCAACCAGAGGTATGACTAGCTCACAGTGGCTAGCTCCGGATTTGTGTGGGAGTTCCAACTTATAATAGGTGGAAAAGCATAACAGGCAAGAAAATGTTTAGTGTGTTTGGTTTGGAAATGCAAAATCTCAAGTGTCCAGTAATTTTAAAGTGAAACAGATTAAAAAGCAAACCCCCAAACAAAATAACCGCTCAATACTGCTCTTCTGTGGTCATAGTAATAAAGGATATGAATAGCAACCTGAAATTGGAATTTGAAAACAAACGTACTACTCTTCAGAAAATGAGCTTAAATCTGGATTAAGTAGCTATGTGAAAATATATCATACAAATCGGGTGGGAATTTCTTTTCTCCAAAAATAGTATAAAGGCAATAATAAAAACGTATAGGGATCACCAAATACTGATTGATGTGTATGTGCCAGGCACTGCTAGTTACTACAAATAGAAGGAAACCACAGGCTCACTGAACTTCCCTGAAGGGTTCACGGCGGAGTCGCCTACCTGCCTGTGATGAGCTTCACAAATAACGATGTGAGCAAAGAGCCTGGGAGAGTGAGAGGGTGTTATTAGGCACATGGAGTAAAGAACTCATTATGTGACCTGACTTTTTTTTTCCTCTTCATTTCTCTTCATTTTGTATAGGAGAGTATACATATCTTACCTCGATAGTGTTCATTTCTTCCGTCCTAAATGCTTGAGGACTGCAGTCTATCATGAAATCCTAATTGGATATTTAGAATATGTCAAGAAATTAGGGTAAGCATATTTTGATAATGGCTTTTTTTCTTTAACTAGCATGGCATTCTGGTGAGATATAGGTTAAATATGCAAATATATAACTCTTGGCCTTTTTTTCCTCATTTTAGTTCTTACGTAACAATTCTCTTAACTTTGTTGGAGCCCCTTTGAAGTTAATGTCAGTAGAGAGAAATGGATATGTTGGCCCTAGTTTCACCCATCCAACATTAGTTTTGTTTGTAAGCTAAGCCATTGGGTCCACTTTGCTTTGAAGTTTGATTTGTGCCCCTCATTTGAGGGCAGAATTTTAACTGCATTTGATCCTTTTACAACCTGGGTATGAAGACCAAAAACAGTTCTGGAGATACTTCTTACCTTTAGAGTATGTATGTCATTGGAAACATTCACTCCCTCATCTTGAAGTCTGTTTCTCTGAACAGTGTGCCTTTTAATTTAGCTCTTGTTAAATGGGTCCATTTTCCTTTGCAGTGTAATCTTCATTTGGTCTTAACATGCAGACTTAGGGTTTTTGGATCCAGGGCTAAGTCACCCACTTCGTGGCTGAGATTCGCAACATCCCACCATGGCCTCCAAAAATAAGTAGGCAATATGAGATCCATTGTTACTACTGTGAGTTATGCCTAATTTTGGCCTCACAATGTTAATCTCATTCTGGGTTATATATACACTGTGTTATCTTGGGAAAAATTATTGGTATCTATATCAACTCCAACTTGTGGTTTAAAATGTAGCCTTCTAGAATAGATTATCTCTTTTCCTTAATGTTCTTTCTCTTTGTATTGTTAGTTACACAACAGGGCTTATTTGGGCATGTCCACCAAGTGAGGGAGATGATTATATCTTCCATTGCCATCCTCCTGACCAGAAGATACCCAAGCCCAAGCGACTGCAGGAATGGTACAAAAAAATGCTTGACAAGGCTGTATCAGAGCGTATTGTCCATGACTACAAGGTCAGTTGGGACATAGGGGCCAGGTGCTGACAATAGATCTGGAAATGCACTAATGTTGCTGCTCTTTGTTCTGTCATTTAACTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACGCAGGCTGGAGTGCAGTGACACGATTTTGGCTCACTTCAAGCTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCTCCTGCCATCACACCCGGCTAAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTTTTTTTTTTTTTTTTAAACAAAAGTCTTGCTTGTTCTACCTCTTGCATGTAATTCCTAAAAATGCTAATTTGATTGCTTTTATTTTGTATATTCAAAATTTTTCAATATAAGAAAAACCAGGTTTTGAAGAGCGGTAGATCAAGAAATCCCTGTTTTAAACATGTAACCAAAATTTTATTTTATTTATTTTTGGGGGGAGGGTGGGGATAGAGTTGGGGTATCGCCATGCTGCCCAGGCTGGACTTGAACTCTTGGCCTCAAGCATTCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTTAAAATATATCTTTTTGTTTTGGTTTTTTGTTGGTTTGGTTTGGGTTGGTTAGGGTTTTAGGGGTGTGGGTGTTTTGTTTTCAGAAAGGGTCACTCTCTGTCACCCAGGCTAGGGTGCAGTGGCATGATACCCGCTCATTGCAACCTGTGCCTCCCAGGCTCAAGCCATCCTCCCATCTCAGCTTCCTGAGTTGCTGGGACTAGGTGCACACTACGAGAGCTAGCTGATTTTTGTATATTTTTTGTAGAGACAGGATGTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTAGGATTATAGGCATGAGCCACATCACCCAGCCAAAAATATATTCTCCCTTTTTTTTTTTTGGACGGAGTTTCAGGCTGGAGTGCAATGGTGCAGTCTCCTGGGTTCAAGTGATGGTCCTACCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCAAGCCAGGCTAATTTTTTCTATTTTTAGTAGAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACTGCACCTGGCCAAAAATATATTCTTAATTAACAGTATTATGTTATTCATAAATATAGGTTGTCTCATGATACAGACTTGTCTTCCTCAATTTAGTAGTTCAACTAAATAAAGAAGTTTTCCTAAGCAGCCCAGCAAATCATTCTGCAGCAGATACTATTTCCAGTATTTGTAGTTTTGGTCATTTTGAACAAAGCTGTCAGTAAAAGCTGCTGAAATTCCAAGGATGGGTGTGAGGAGGGCATGCTTCATACCACATATTCTGTGATAAGGAGTGGTAGGGGCCATGGCATGCATGATGGTGCTACCACCCTGACGTTGATCCTGGCAGGATAATTGCCACTTGGTTATATAAAGGCAGATAAGCTCCCTGTTTTTGTGGGTAGAAGAAATAGAAAACCGGAAATATTGACTTTAGGCCAGGCCTTTTCACTATTTATTTTTCTAAATACTCCCTGGCTTACGGCTTAGGTATAAAGTCTCTGCCAGCTTTCAAGACATTTTAAGCTTTCATGTTTCTTGTCAGCCATGATTATTCTGTATAATCAATGCTTTAAAAGAACATAGA 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Task1_train_28856 | An alteration has been detected in EP300 (E1A binding protein p300) on Chromosome 22. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | CAGGAATGGTACAAAAAAATGCTTGACAAGGCTGTATCAGAGCGTATTGTCCATGACTACAAGGTCAGTTGGGACATAGGGGCCAGGTGCTGACAATAGATCTGGAAATGCACTAATGTTGCTGCTCTTTGTTCTGTCATTTAACTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACGCAGGCTGGAGTGCAGTGACACGATTTTGGCTCACTTCAAGCTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCTCCTGCCATCACACCCGGCTAAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTTTTTTTTTTTTTTTTAAACAAAAGTCTTGCTTGTTCTACCTCTTGCATGTAATTCCTAAAAATGCTAATTTGATTGCTTTTATTTTGTATATTCAAAATTTTTCAATATAAGAAAAACCAGGTTTTGAAGAGCGGTAGATCAAGAAATCCCTGTTTTAAACATGTAACCAAAATTTTATTTTATTTATTTTTGGGGGGAGGGTGGGGATAGAGTTGGGGTATCGCCATGCTGCCCAGGCTGGACTTGAACTCTTGGCCTCAAGCATTCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTTAAAATATATCTTTTTGTTTTGGTTTTTTGTTGGTTTGGTTTGGGTTGGTTAGGGTTTTAGGGGTGTGGGTGTTTTGTTTTCAGAAAGGGTCACTCTCTGTCACCCAGGCTAGGGTGCAGTGGCATGATACCCGCTCATTGCAACCTGTGCCTCCCAGGCTCAAGCCATCCTCCCATCTCAGCTTCCTGAGTTGCTGGGACTAGGTGCACACTACGAGAGCTAGCTGATTTTTGTATATTTTTTGTAGAGACAGGATGTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTAGGATTATAGGCATGAGCCACATCACCCAGCCAAAAATATATTCTCCCTTTTTTTTTTTTGGACGGAGTTTCAGGCTGGAGTGCAATGGTGCAGTCTCCTGGGTTCAAGTGATGGTCCTACCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCAAGCCAGGCTAATTTTTTCTATTTTTAGTAGAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACTGCACCTGGCCAAAAATATATTCTTAATTAACAGTATTATGTTATTCATAAATATAGGTTGTCTCATGATACAGACTTGTCTTCCTCAATTTAGTAGTTCAACTAAATAAAGAAGTTTTCCTAAGCAGCCCAGCAAATCATTCTGCAGCAGATACTATTTCCAGTATTTGTAGTTTTGGTCATTTTGAACAAAGCTGTCAGTAAAAGCTGCTGAAATTCCAAGGATGGGTGTGAGGAGGGCATGCTTCATACCACATATTCTGTGATAAGGAGTGGTAGGGGCCATGGCATGCATGATGGTGCTACCACCCTGACGTTGATCCTGGCAGGATAATTGCCACTTGGTTATATAAAGGCAGATAAGCTCCCTGTTTTTGTGGGTAGAAGAAATAGAAAACCGGAAATATTGACTTTAGGCCAGGCCTTTTCACTATTTATTTTTCTAAATACTCCCTGGCTTACGGCTTAGGTATAAAGTCTCTGCCAGCTTTCAAGACATTTTAAGCTTTCATGTTTCTTGTCAGCCATGATTATTCTGTATAATCAATGCTTTAAAAGAACATAGAAATTCCTATATGTACATGCATGTTTTCACAGGATATTTTTAAACAAGCTACTGAAGATAGATTAACAAGTGCAAAGGAATTGCCTTATTTCGAGGGTGATTTCTGGCCCAATGTTCTGGAAGAAAGCATTAAGGAACTGGAACAGGAGGAAGAAGAGAGAAAACGAGAGGAAAACACCAGCAATGAAAGCACAGATGTAAGGGCATTGAGTTTCCTTTGAAACTTCTATCATGATTCTAATATTTAATCCAGAAGTGCACTTAAACTTTCAATTGGGTTTTAAAGCTTTCAGGTGTAAAAGAGCTCTTTAAGTTGGACAAGAAATATTGGCTTAGAGAGGTTATTAGGGTTCTGTTTCAGTGGTATTAAACTTTTAAAGCATCAGAGCCCCTTTTAAAATGGCATCTCAGACTTTGAGTAATGTGAAATGATAAAAGAAACTGAAGGAAATCCTGAAAAACTGATAGAAGATTACTTATCTGAAGGACTAGGTTATGAATATTATAGGCCTTGTGGGTCACATATCTCTGGCATATTTTCTGTCTTTTAAAAACACACTCTTTTTAAATGTAAAAAACCATTCTTAGCTATACAAAATAGGCCTGAGCCAGAATTTAAGTTACTAAGCCTGGCTTAGTAACCTCACCAGTTATTTCCCCATAGCATATCTCGAATTACCTCCATTGAATTTAACTTAACAAAAGGCACCCTTAAATAGTCTGTTAACAAACTCTTACAGCCTTGTCATTTAGTATTTGTAGGCTCATAACATTTTAGAATATGAGTGGAAGGAAATAAAACCAAGGTCTTCTGGCTCCCCACTTTGATACACTCTTCACTACCCCAAAGTGCCACCCCTTCCTTGTTCCCTAGCCCCAATCTGGGATACATTCAATCAATCTACAGGGTCTGCACATTCTGTGGCCTCTTCTAGGCAAAAAGCTAAAGGGCTGCCATTGCCTTAAAGATCACTGGGAGAAAATTAGGTCAAATAACAACTTTAAGGAGAAAGAATAAGTGAAGAGAACAGCTAGTAAAATAAGTTACAGGCATAAGATTATGATATCTAGTTTCAAAGAAGGGAGATATTCTGTGCTATTCCCAAATTACTTAACAAAAACCTTATTTTCTTGTCTCCTTTGTGCTACTCTGCAGGTGACCAAGGGAGACAGCAAAAATGCTAAAAAGAAGAATAATAAGAAAACCAGCAAAAATAAGAGCAGCCTGAGTAGGGGCAACAAGAAGAAACCCGGGATGCCCAATGTATCTAACGACCTCTCACAGAAACTATATGCCACCATGGAGAAGCATAAAGAGGTAAGATGCAGCCACCCAGAGTTGGGGAAAAACGGCAAGATTTCTGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGTGAAACCTTGCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGAGAAGCGGAGATTGCAGTGAGCCGAGGTCACTCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAGAAAAAGAAATAAGAAATGAATAAAAACACTGACTGTTCGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAGGTTGAGGCAGGCGGATCACTTGAGGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGCGAACCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCTGGCGTGGTGGCACACACCTGTAATCCTTGGGATGCTGGGGTGGGAGGATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGCACTTACAGCCTGGGTGACAGAACGAGACTCTGTTTCAAAAAATAAAAAGATTTAACCTTTCTGAAAGTGAATTAGTAAATAGAATTGGAGAAAAGTTAAACTTCCACATATGGACTTACAACCCCCTTCTCAAAACTTTTTGAGTTATTTCATCATTTACATTGTTTAGTTGTTCTTGCAGTCATTTGGGAAAATAACTGGGTAAGGTTTTTTTTTTCTCTCTTTAATAT 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CAGGAATGGTACAAAAAAATGCTTGACAAGGCTGTATCAGAGCGTATTGTCCATGACTACAAGGTCAGTTGGGACATAGGGGCCAGGTGCTGACAATAGATCTGGAAATGCACTAATGTTGCTGCTCTTTGTTCTGTCATTTAACTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACGCAGGCTGGAGTGCAGTGACACGATTTTGGCTCACTTCAAGCTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCTCCTGCCATCACACCCGGCTAAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTTTTTTTTTTTTTTTTAAACAAAAGTCTTGCTTGTTCTACCTCTTGCATGTAATTCCTAAAAATGCTAATTTGATTGCTTTTATTTTGTATATTCAAAATTTTTCAATATAAGAAAAACCAGGTTTTGAAGAGCGGTAGATCAAGAAATCCCTGTTTTAAACATGTAACCAAAATTTTATTTTATTTATTTTTGGGGGGAGGGTGGGGATAGAGTTGGGGTATCGCCATGCTGCCCAGGCTGGACTTGAACTCTTGGCCTCAAGCATTCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTTAAAATATATCTTTTTGTTTTGGTTTTTTGTTGGTTTGGTTTGGGTTGGTTAGGGTTTTAGGGGTGTGGGTGTTTTGTTTTCAGAAAGGGTCACTCTCTGTCACCCAGGCTAGGGTGCAGTGGCATGATACCCGCTCATTGCAACCTGTGCCTCCCAGGCTCAAGCCATCCTCCCATCTCAGCTTCCTGAGTTGCTGGGACTAGGTGCACACTACGAGAGCTAGCTGATTTTTGTATATTTTTTGTAGAGACAGGATGTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTAGGATTATAGGCATGAGCCACATCACCCAGCCAAAAATATATTCTCCCTTTTTTTTTTTTGGACGGAGTTTCAGGCTGGAGTGCAATGGTGCAGTCTCCTGGGTTCAAGTGATGGTCCTACCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCAAGCCAGGCTAATTTTTTCTATTTTTAGTAGAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACTGCACCTGGCCAAAAATATATTCTTAATTAACAGTATTATGTTATTCATAAATATAGGTTGTCTCATGATACAGACTTGTCTTCCTCAATTTAGTAGTTCAACTAAATAAAGAAGTTTTCCTAAGCAGCCCAGCAAATCATTCTGCAGCAGATACTATTTCCAGTATTTGTAGTTTTGGTCATTTTGAACAAAGCTGTCAGTAAAAGCTGCTGAAATTCCAAGGATGGGTGTGAGGAGGGCATGCTTCATACCACATATTCTGTGATAAGGAGTGGTAGGGGCCATGGCATGCATGATGGTGCTACCACCCTGACGTTGATCCTGGCAGGATAATTGCCACTTGGTTATATAAAGGCAGATAAGCTCCCTGTTTTTGTGGGTAGAAGAAATAGAAAACCGGAAATATTGACTTTAGGCCAGGCCTTTTCACTATTTATTTTTCTAAATACTCCCTGGCTTACGGCTTAGGTATAAAGTCTCTGCCAGCTTTCAAGACATTTTAAGCTTTCATGTTTCTTGTCAGCCATGATTATTCTGTATAATCAATGCTTTAAAAGAACATAGAAATTCCTATATGTACATGCATGTTTTCACAGGATATTTTTAAACAAGCTACTGAAGATAGATTAACAAGTGCAAAGGAATTGCCTTATTGCGAGGGTGATTTCTGGCCCAATGTTCTGGAAGAAAGCATTAAGGAACTGGAACAGGAGGAAGAAGAGAGAAAACGAGAGGAAAACACCAGCAATGAAAGCACAGATGTAAGGGCATTGAGTTTCCTTTGAAACTTCTATCATGATTCTAATATTTAATCCAGAAGTGCACTTAAACTTTCAATTGGGTTTTAAAGCTTTCAGGTGTAAAAGAGCTCTTTAAGTTGGACAAGAAATATTGGCTTAGAGAGGTTATTAGGGTTCTGTTTCAGTGGTATTAAACTTTTAAAGCATCAGAGCCCCTTTTAAAATGGCATCTCAGACTTTGAGTAATGTGAAATGATAAAAGAAACTGAAGGAAATCCTGAAAAACTGATAGAAGATTACTTATCTGAAGGACTAGGTTATGAATATTATAGGCCTTGTGGGTCACATATCTCTGGCATATTTTCTGTCTTTTAAAAACACACTCTTTTTAAATGTAAAAAACCATTCTTAGCTATACAAAATAGGCCTGAGCCAGAATTTAAGTTACTAAGCCTGGCTTAGTAACCTCACCAGTTATTTCCCCATAGCATATCTCGAATTACCTCCATTGAATTTAACTTAACAAAAGGCACCCTTAAATAGTCTGTTAACAAACTCTTACAGCCTTGTCATTTAGTATTTGTAGGCTCATAACATTTTAGAATATGAGTGGAAGGAAATAAAACCAAGGTCTTCTGGCTCCCCACTTTGATACACTCTTCACTACCCCAAAGTGCCACCCCTTCCTTGTTCCCTAGCCCCAATCTGGGATACATTCAATCAATCTACAGGGTCTGCACATTCTGTGGCCTCTTCTAGGCAAAAAGCTAAAGGGCTGCCATTGCCTTAAAGATCACTGGGAGAAAATTAGGTCAAATAACAACTTTAAGGAGAAAGAATAAGTGAAGAGAACAGCTAGTAAAATAAGTTACAGGCATAAGATTATGATATCTAGTTTCAAAGAAGGGAGATATTCTGTGCTATTCCCAAATTACTTAACAAAAACCTTATTTTCTTGTCTCCTTTGTGCTACTCTGCAGGTGACCAAGGGAGACAGCAAAAATGCTAAAAAGAAGAATAATAAGAAAACCAGCAAAAATAAGAGCAGCCTGAGTAGGGGCAACAAGAAGAAACCCGGGATGCCCAATGTATCTAACGACCTCTCACAGAAACTATATGCCACCATGGAGAAGCATAAAGAGGTAAGATGCAGCCACCCAGAGTTGGGGAAAAACGGCAAGATTTCTGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGTGAAACCTTGCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGAGAAGCGGAGATTGCAGTGAGCCGAGGTCACTCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAGAAAAAGAAATAAGAAATGAATAAAAACACTGACTGTTCGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAGGTTGAGGCAGGCGGATCACTTGAGGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGCGAACCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCTGGCGTGGTGGCACACACCTGTAATCCTTGGGATGCTGGGGTGGGAGGATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGCACTTACAGCCTGGGTGACAGAACGAGACTCTGTTTCAAAAAATAAAAAGATTTAACCTTTCTGAAAGTGAATTAGTAAATAGAATTGGAGAAAAGTTAAACTTCCACATATGGACTTACAACCCCCTTCTCAAAACTTTTTGAGTTATTTCATCATTTACATTGTTTAGTTGTTCTTGCAGTCATTTGGGAAAATAACTGGGTAAGGTTTTTTTTTTCTCTCTTTAATAT 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Task1_train_28857 | Given a variant located on Chromosome 22 and affecting EP300 (E1A binding protein p300), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Colorectal cancer | AGGCGGATCACTTGAGGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGCGAACCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCTGGCGTGGTGGCACACACCTGTAATCCTTGGGATGCTGGGGTGGGAGGATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGCACTTACAGCCTGGGTGACAGAACGAGACTCTGTTTCAAAAAATAAAAAGATTTAACCTTTCTGAAAGTGAATTAGTAAATAGAATTGGAGAAAAGTTAAACTTCCACATATGGACTTACAACCCCCTTCTCAAAACTTTTTGAGTTATTTCATCATTTACATTGTTTAGTTGTTCTTGCAGTCATTTGGGAAAATAACTGGGTAAGGTTTTTTTTTTCTCTCTTTAATATCATATAATTGATAACGAAAGCCAGGAGAATTGAAGAGTAATTCCTCTCAGGGTTTGTCCAATGGTAGTAATCTCGATTGTTCAGTCAGACTCCTCATTTTACTATCTCGGTTCTCAGACATATAATCAAGTTCTTATAGGAAGTGGTAATTAAGTTGAGAGGGAAATGAAGGCTTGATTTCAGGTTGTAATTCCGTACCTAAAAATTGGTTAAACAGTCTCTTTGGGAGAGAAATAGTTAACAAAATCTTTTTTAGAGAGGAATTTGTTATAATGATGTTATCATGGTGAACACCTATATACATAGGTGTTCAAAGTATCTTTTCCCCCACTGCTCCCCCCATCACCACCCCTTTTTTGTTAGCCTAGAATAATGGGCTACGATGTAATAATGGTAATAACCATTATCTCAGCCATGCTAGTGAAATGGAAGGATTCCTGAGTTCTAATACGTTAGGTAATGATTATTAACAATTAATAGTTACTAGCTATTTCAAGCAGTAAGTAATGCCACAGAATCCTAGGCAGTTGGGAAAAGCCCTTAGAATATATTGTAATAGGTTTGACTTAAATTGTGGACACATTCCATGGCTGTTTAAATTTAGGTTGTAAATCCAAGTATTGGCCTGGTTGTAGGGTGACAGAAGCAGCGAACATTGCTGGCCAGAGACTGTGAGTGTGGCTGCCAGTGTGCACAGATGTTGAATAATCTGTTATCAGTACAGCAGTTTCTCACAAGTTCCTAATTTCTTAAGGGGATGTTTTACATTTTATTACTTTAATAGGTGTTTATAGTTATATACTAATTAATGTCAAATACATATGTAATACCAGCTTTTTATACCTTTTACACTAATGGTTATGAGAATTGATGGTTGTTACAAGTTTTTTCAAACTTCAATGAACAAGAATTTTATTGCTTTGTCAACAAAGACTAAGATTTTTTATCCATTCCATTCCCTTCCAAACCTGTAGGAAAAGTTACACAGGAAAGTTGCATAGGGGACCTTCATGAGTCCAGGCCAGTTGTTTTTCATACTGTCTCCATATTTGGATTTGTCTGGTTTGTTGTAATTAGATTGAGGTTAAACCATGGATTGCATCTTAAAGTAGACTGCCTTGAGGCAAAATGTCCACTGTGCATGGTGCTATACCTCACCCAGACCATTGTTACTCTGAAGGAGTTACTGAATGAAGGAGAAAAAAATCACAGGATGTGCATTTCAGTTCTATTTATAGTCAGTCTCAAGAGACCAAAGAGGTAAAGCAGGAAAAGGAACAGGAGGCGTATGGTGGTGAAACTAACTCAGCATTCGCCAGTCTCATTGGTGCTCAGCCTGCTGTACCTGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGCAGATCACTTGAGCTTAGGAGTTTGAGACCAGCCTGGGCAACATGGCGAAGCCTCGTCTCTACAAAAAATGCAGAAATTAGCCAGGTGTGGTGGTGTGGGCCTGTGGTCTCAGCTATTCAGGAGGCCATGGTGGGATAATTGCTTGAGCCCAGGAGGCAGAGGTTGTAGTGAGCCAAGATCACGCCACTGCATTCCAGCCTGGATGACAGAGCGAGGCCCTGTCTCAAAAAAAAGAGACTGTCTGTTTTTCAGGTCTTCTTTGTGATCCGCCTCATTGCTGGCCCTGCTGCCAACTCCCTGCCTCCCATTGTTGATCCTGATCCTCTCATCCCCTGCGATCTGATGGATGGTCGGGATGCGTTTCTCACGCTGGCAAGGGACAAGCACCTGGAGTTCTCTTCACTCCGAAGAGCCCAGTGGTCCACCATGTGCATGCTGGTGGAGCTGCACACGCAGAGCCAGGACCGCTTTGTCTACACCTGCAATGAATGCAAGCACCATGTGGAGACACGCTGGCACTGTACTGTCTGTGAGGTAGGCACCGGGTTGTGGGAAGGAGGAGGTGAGCTCCGCAGGGTTGTTCTGAGGGGCCATGCAGCCACGTATTTTATAGAGGCCTGTGGGATGCTAGGGGCTTGGCCTCGTGTTTGAGGGGCAGAGCTGAAGAGGCTAGTTTTTGTTCTACGAAAGGGGCTTTTCTAGCCCAAACAATATCTAAAATACTTTTGAATGACTTAAATCTTGGAGAGTTTACGTGCACCTCCTGTTTTTTCCCTAGGATTATGACTTGTGTATCACCTGCTATAACACTAAAAACCATGACCACAAAATGGAGAAACTAGGCCTTGGCTTAGATGATGAGAGCAACAACCAGCAGGCTGCAGCCACCCAGAGCCCAGGCGATTCTCGCCGCCTGAGTATCCAGCGCTGCATCCAGTCTCTGGTCCATGCTTGCCAGTGTCGGAATGCCAATTGCTCACTGCCATCCTGCCAGAAGATGAAGCGGGTTGTGCAGCATACCAAGGGTTGCAAACGGAAAACCAATGGCGGGTGCCCCATCTGCAAGCAGCTCATTGCCCTCTGCTGCTACCATGCCAAGCACTGCCAGGAGAACAAATGCCCGGTGCCGTTCTGCCTAAACATCAAGCAGAAGCTCCGGCAGCAACAGCTGCAGCACCGACTACAGCAGGCCCAAATGCTTCGCAGGAGGATGGCCAGCATGCAGCGGACTGGTGTGGTTGGGCAGCAACAGGGCCTCCCTTCCCCCACTCCTGCCACTCCAACGACACCAACTGGCCAACAGCCAACCACCCCGCAGACGCCCCAGCCCACTTCTCAGCCTCAGCCTACCCCTCCCAATAGCATGCCACCCTACTTGCCCAGGACTCAAGCTGCTGGCCCTGTGTCCCAGGGTAAGGCAGCAGGCCAGGTGACCCCTCCAACCCCTCCTCAGACTGCTCAGCCACCCCTTCCAGGGCCCCCACCTGCAGCAGTGGAAATGGCAATGCAGATTCAGAGAGCAGCGGAGACGCAGCGCCAGATGGCCCACGTGCAAATTTTTCAAAGGCCAATCCAACACCAGATGCCCCCGATGACTCCCATGGCCCCCATGGGTATGAACCCACCTCCCATGACCAGAGGTCCCAGTGGGCATTTGGAGCCAGGGATGGGACCGACAGGGATGCAGCAACAGCCACCCTGGAGCCAAGGAGGATTGCCTCAGCCCCAGCAACTACAGTCTGGGATGCCAAGGCCAGCCATGATGTCAGTGGCCCAGCATGGTCAACCTTTGAACATGGCTCCACAACCAGGATTGGGCCAGGTAGGTATCAGCCCACTCAAACCAGGCACTGTGTCTCAACAAGCCTTACAAAACCTTTTGCGGACTCTCAGGTCTCCCAGCTCTCCCCTGCAGCAGCAACAGGTGCTTAGTATCCTTCACGCCAACCCCCAGCTGTTGGCTGCATTCATCAAGCAGCGGGCTGCCAAGTATGCCAACTCTAATCCACAACCCATCCCTGGGCAGCCTGGCATGCCCCAGGGGCAGCCAGGGCTACAGCCACCTACCATGCCAGGTCAGCAGGGGGTCCACTCCAATCCAGCCATGCAGAACATGAATCCAATGCAGGCGGGCGTTCAGAGGGCTGGCCTGCCCCAGCAGCAACCACAGCAGCAACTCCAGCCACCCATGGGAGGGATGAGCCCCCAGGCTCAGCAGATGAACATGAACCACAACACCATGCCTTCACAATTCCGAGACATCTTGAGACGACAGCAAATGATGCAACAGCAGCAGCAACAGG 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AGGCGGATCACTTGAGGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGCGAACCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCTGGCGTGGTGGCACACACCTGTAATCCTTGGGATGCTGGGGTGGGAGGATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGCACTTACAGCCTGGGTGACAGAACGAGACTCTGTTTCAAAAAATAAAAAGATTTAACCTTTCTGAAAGTGAATTAGTAAATAGAATTGGAGAAAAGTTAAACTTCCACATATGGACTTACAACCCCCTTCTCAAAACTTTTTGAGTTATTTCATCATTTACATTGTTTAGTTGTTCTTGCAGTCATTTGGGAAAATAACTGGGTAAGGTTTTTTTTTTCTCTCTTTAATATCATATAATTGATAACGAAAGCCAGGAGAATTGAAGAGTAATTCCTCTCAGGGTTTGTCCAATGGTAGTAATCTCGATTGTTCAGTCAGACTCCTCATTTTACTATCTCGGTTCTCAGACATATAATCAAGTTCTTATAGGAAGTGGTAATTAAGTTGAGAGGGAAATGAAGGCTTGATTTCAGGTTGTAATTCCGTACCTAAAAATTGGTTAAACAGTCTCTTTGGGAGAGAAATAGTTAACAAAATCTTTTTTAGAGAGGAATTTGTTATAATGATGTTATCATGGTGAACACCTATATACATAGGTGTTCAAAGTATCTTTTCCCCCACTGCTCCCCCCATCACCACCCCTTTTTTGTTAGCCTAGAATAATGGGCTACGATGTAATAATGGTAATAACCATTATCTCAGCCATGCTAGTGAAATGGAAGGATTCCTGAGTTCTAATACGTTAGGTAATGATTATTAACAATTAATAGTTACTAGCTATTTCAAGCAGTAAGTAATGCCACAGAATCCTAGGCAGTTGGGAAAAGCCCTTAGAATATATTGTAATAGGTTTGACTTAAATTGTGGACACATTCCATGGCTGTTTAAATTTAGGTTGTAAATCCAAGTATTGGCCTGGTTGTAGGGTGACAGAAGCAGCGAACATTGCTGGCCAGAGACTGTGAGTGTGGCTGCCAGTGTGCACAGATGTTGAATAATCTGTTATCAGTACAGCAGTTTCTCACAAGTTCCTAATTTCTTAAGGGGATGTTTTACATTTTATTACTTTAATAGGTGTTTATAGTTATATACTAATTAATGTCAAATACATATGTAATACCAGCTTTTTATACCTTTTACACTAATGGTTATGAGAATTGATGGTTGTTACAAGTTTTTTCAAACTTCAATGAACAAGAATTTTATTGCTTTGTCAACAAAGACTAAGATTTTTTATCCATTCCATTCCCTTCCAAACCTGTAGGAAAAGTTACACAGGAAAGTTGCATAGGGGACCTTCATGAGTCCAGGCCAGTTGTTTTTCATACTGTCTCCATATTTGGATTTGTCTGGTTTGTTGTAATTAGATTGAGGTTAAACCATGGATTGCATCTTAAAGTAGACTGCCTTGAGGCAAAATGTCCACTGTGCATGGTGCTATACCTCACCCAGACCATTGTTACTCTGAAGGAGTTACTGAATGAAGGAGAAAAAAATCACAGGATGTGCATTTCAGTTCTATTTATAGTCAGTCTCAAGAGACCAAAGAGGTAAAGCAGGAAAAGGAACAGGAGGCGTATGGTGGTGAAACTAACTCAGCATTCGCCAGTCTCATTGGTGCTCAGCCTGCTGTACCTGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGCAGATCACTTGAGCTTAGGAGTTTGAGACCAGCCTGGGCAACATGGCGAAGCCTCGTCTCTACAAAAAATGCAGAAATTAGCCAGGTGTGGTGGTGTGGGCCTGTGGTCTCAGCTATTCAGGAGGCCATGGTGGGATAATTGCTTGAGCCCAGGAGGCAGAGGTTGTAGTGAGCCAAGATCACGCCACTGCATTCCAGCCTGGATGACAGAGCGAGGCCCTGTCTCAAAAAAAAGAGACTGTCTGTTTTTCAGGTCATCTTTGTGATCCGCCTCATTGCTGGCCCTGCTGCCAACTCCCTGCCTCCCATTGTTGATCCTGATCCTCTCATCCCCTGCGATCTGATGGATGGTCGGGATGCGTTTCTCACGCTGGCAAGGGACAAGCACCTGGAGTTCTCTTCACTCCGAAGAGCCCAGTGGTCCACCATGTGCATGCTGGTGGAGCTGCACACGCAGAGCCAGGACCGCTTTGTCTACACCTGCAATGAATGCAAGCACCATGTGGAGACACGCTGGCACTGTACTGTCTGTGAGGTAGGCACCGGGTTGTGGGAAGGAGGAGGTGAGCTCCGCAGGGTTGTTCTGAGGGGCCATGCAGCCACGTATTTTATAGAGGCCTGTGGGATGCTAGGGGCTTGGCCTCGTGTTTGAGGGGCAGAGCTGAAGAGGCTAGTTTTTGTTCTACGAAAGGGGCTTTTCTAGCCCAAACAATATCTAAAATACTTTTGAATGACTTAAATCTTGGAGAGTTTACGTGCACCTCCTGTTTTTTCCCTAGGATTATGACTTGTGTATCACCTGCTATAACACTAAAAACCATGACCACAAAATGGAGAAACTAGGCCTTGGCTTAGATGATGAGAGCAACAACCAGCAGGCTGCAGCCACCCAGAGCCCAGGCGATTCTCGCCGCCTGAGTATCCAGCGCTGCATCCAGTCTCTGGTCCATGCTTGCCAGTGTCGGAATGCCAATTGCTCACTGCCATCCTGCCAGAAGATGAAGCGGGTTGTGCAGCATACCAAGGGTTGCAAACGGAAAACCAATGGCGGGTGCCCCATCTGCAAGCAGCTCATTGCCCTCTGCTGCTACCATGCCAAGCACTGCCAGGAGAACAAATGCCCGGTGCCGTTCTGCCTAAACATCAAGCAGAAGCTCCGGCAGCAACAGCTGCAGCACCGACTACAGCAGGCCCAAATGCTTCGCAGGAGGATGGCCAGCATGCAGCGGACTGGTGTGGTTGGGCAGCAACAGGGCCTCCCTTCCCCCACTCCTGCCACTCCAACGACACCAACTGGCCAACAGCCAACCACCCCGCAGACGCCCCAGCCCACTTCTCAGCCTCAGCCTACCCCTCCCAATAGCATGCCACCCTACTTGCCCAGGACTCAAGCTGCTGGCCCTGTGTCCCAGGGTAAGGCAGCAGGCCAGGTGACCCCTCCAACCCCTCCTCAGACTGCTCAGCCACCCCTTCCAGGGCCCCCACCTGCAGCAGTGGAAATGGCAATGCAGATTCAGAGAGCAGCGGAGACGCAGCGCCAGATGGCCCACGTGCAAATTTTTCAAAGGCCAATCCAACACCAGATGCCCCCGATGACTCCCATGGCCCCCATGGGTATGAACCCACCTCCCATGACCAGAGGTCCCAGTGGGCATTTGGAGCCAGGGATGGGACCGACAGGGATGCAGCAACAGCCACCCTGGAGCCAAGGAGGATTGCCTCAGCCCCAGCAACTACAGTCTGGGATGCCAAGGCCAGCCATGATGTCAGTGGCCCAGCATGGTCAACCTTTGAACATGGCTCCACAACCAGGATTGGGCCAGGTAGGTATCAGCCCACTCAAACCAGGCACTGTGTCTCAACAAGCCTTACAAAACCTTTTGCGGACTCTCAGGTCTCCCAGCTCTCCCCTGCAGCAGCAACAGGTGCTTAGTATCCTTCACGCCAACCCCCAGCTGTTGGCTGCATTCATCAAGCAGCGGGCTGCCAAGTATGCCAACTCTAATCCACAACCCATCCCTGGGCAGCCTGGCATGCCCCAGGGGCAGCCAGGGCTACAGCCACCTACCATGCCAGGTCAGCAGGGGGTCCACTCCAATCCAGCCATGCAGAACATGAATCCAATGCAGGCGGGCGTTCAGAGGGCTGGCCTGCCCCAGCAGCAACCACAGCAGCAACTCCAGCCACCCATGGGAGGGATGAGCCCCCAGGCTCAGCAGATGAACATGAACCACAACACCATGCCTTCACAATTCCGAGACATCTTGAGACGACAGCAAATGATGCAACAGCAGCAGCAACAGG 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Task1_train_28858 | Located on Chromosome 22, this mutation impacts EP300 (E1A binding protein p300). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | GGGAAAAGCCCTTAGAATATATTGTAATAGGTTTGACTTAAATTGTGGACACATTCCATGGCTGTTTAAATTTAGGTTGTAAATCCAAGTATTGGCCTGGTTGTAGGGTGACAGAAGCAGCGAACATTGCTGGCCAGAGACTGTGAGTGTGGCTGCCAGTGTGCACAGATGTTGAATAATCTGTTATCAGTACAGCAGTTTCTCACAAGTTCCTAATTTCTTAAGGGGATGTTTTACATTTTATTACTTTAATAGGTGTTTATAGTTATATACTAATTAATGTCAAATACATATGTAATACCAGCTTTTTATACCTTTTACACTAATGGTTATGAGAATTGATGGTTGTTACAAGTTTTTTCAAACTTCAATGAACAAGAATTTTATTGCTTTGTCAACAAAGACTAAGATTTTTTATCCATTCCATTCCCTTCCAAACCTGTAGGAAAAGTTACACAGGAAAGTTGCATAGGGGACCTTCATGAGTCCAGGCCAGTTGTTTTTCATACTGTCTCCATATTTGGATTTGTCTGGTTTGTTGTAATTAGATTGAGGTTAAACCATGGATTGCATCTTAAAGTAGACTGCCTTGAGGCAAAATGTCCACTGTGCATGGTGCTATACCTCACCCAGACCATTGTTACTCTGAAGGAGTTACTGAATGAAGGAGAAAAAAATCACAGGATGTGCATTTCAGTTCTATTTATAGTCAGTCTCAAGAGACCAAAGAGGTAAAGCAGGAAAAGGAACAGGAGGCGTATGGTGGTGAAACTAACTCAGCATTCGCCAGTCTCATTGGTGCTCAGCCTGCTGTACCTGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGCAGATCACTTGAGCTTAGGAGTTTGAGACCAGCCTGGGCAACATGGCGAAGCCTCGTCTCTACAAAAAATGCAGAAATTAGCCAGGTGTGGTGGTGTGGGCCTGTGGTCTCAGCTATTCAGGAGGCCATGGTGGGATAATTGCTTGAGCCCAGGAGGCAGAGGTTGTAGTGAGCCAAGATCACGCCACTGCATTCCAGCCTGGATGACAGAGCGAGGCCCTGTCTCAAAAAAAAGAGACTGTCTGTTTTTCAGGTCTTCTTTGTGATCCGCCTCATTGCTGGCCCTGCTGCCAACTCCCTGCCTCCCATTGTTGATCCTGATCCTCTCATCCCCTGCGATCTGATGGATGGTCGGGATGCGTTTCTCACGCTGGCAAGGGACAAGCACCTGGAGTTCTCTTCACTCCGAAGAGCCCAGTGGTCCACCATGTGCATGCTGGTGGAGCTGCACACGCAGAGCCAGGACCGCTTTGTCTACACCTGCAATGAATGCAAGCACCATGTGGAGACACGCTGGCACTGTACTGTCTGTGAGGTAGGCACCGGGTTGTGGGAAGGAGGAGGTGAGCTCCGCAGGGTTGTTCTGAGGGGCCATGCAGCCACGTATTTTATAGAGGCCTGTGGGATGCTAGGGGCTTGGCCTCGTGTTTGAGGGGCAGAGCTGAAGAGGCTAGTTTTTGTTCTACGAAAGGGGCTTTTCTAGCCCAAACAATATCTAAAATACTTTTGAATGACTTAAATCTTGGAGAGTTTACGTGCACCTCCTGTTTTTTCCCTAGGATTATGACTTGTGTATCACCTGCTATAACACTAAAAACCATGACCACAAAATGGAGAAACTAGGCCTTGGCTTAGATGATGAGAGCAACAACCAGCAGGCTGCAGCCACCCAGAGCCCAGGCGATTCTCGCCGCCTGAGTATCCAGCGCTGCATCCAGTCTCTGGTCCATGCTTGCCAGTGTCGGAATGCCAATTGCTCACTGCCATCCTGCCAGAAGATGAAGCGGGTTGTGCAGCATACCAAGGGTTGCAAACGGAAAACCAATGGCGGGTGCCCCATCTGCAAGCAGCTCATTGCCCTCTGCTGCTACCATGCCAAGCACTGCCAGGAGAACAAATGCCCGGTGCCGTTCTGCCTAAACATCAAGCAGAAGCTCCGGCAGCAACAGCTGCAGCACCGACTACAGCAGGCCCAAATGCTTCGCAGGAGGATGGCCAGCATGCAGCGGACTGGTGTGGTTGGGCAGCAACAGGGCCTCCCTTCCCCCACTCCTGCCACTCCAACGACACCAACTGGCCAACAGCCAACCACCCCGCAGACGCCCCAGCCCACTTCTCAGCCTCAGCCTACCCCTCCCAATAGCATGCCACCCTACTTGCCCAGGACTCAAGCTGCTGGCCCTGTGTCCCAGGGTAAGGCAGCAGGCCAGGTGACCCCTCCAACCCCTCCTCAGACTGCTCAGCCACCCCTTCCAGGGCCCCCACCTGCAGCAGTGGAAATGGCAATGCAGATTCAGAGAGCAGCGGAGACGCAGCGCCAGATGGCCCACGTGCAAATTTTTCAAAGGCCAATCCAACACCAGATGCCCCCGATGACTCCCATGGCCCCCATGGGTATGAACCCACCTCCCATGACCAGAGGTCCCAGTGGGCATTTGGAGCCAGGGATGGGACCGACAGGGATGCAGCAACAGCCACCCTGGAGCCAAGGAGGATTGCCTCAGCCCCAGCAACTACAGTCTGGGATGCCAAGGCCAGCCATGATGTCAGTGGCCCAGCATGGTCAACCTTTGAACATGGCTCCACAACCAGGATTGGGCCAGGTAGGTATCAGCCCACTCAAACCAGGCACTGTGTCTCAACAAGCCTTACAAAACCTTTTGCGGACTCTCAGGTCTCCCAGCTCTCCCCTGCAGCAGCAACAGGTGCTTAGTATCCTTCACGCCAACCCCCAGCTGTTGGCTGCATTCATCAAGCAGCGGGCTGCCAAGTATGCCAACTCTAATCCACAACCCATCCCTGGGCAGCCTGGCATGCCCCAGGGGCAGCCAGGGCTACAGCCACCTACCATGCCAGGTCAGCAGGGGGTCCACTCCAATCCAGCCATGCAGAACATGAATCCAATGCAGGCGGGCGTTCAGAGGGCTGGCCTGCCCCAGCAGCAACCACAGCAGCAACTCCAGCCACCCATGGGAGGGATGAGCCCCCAGGCTCAGCAGATGAACATGAACCACAACACCATGCCTTCACAATTCCGAGACATCTTGAGACGACAGCAAATGATGCAACAGCAGCAGCAACAGGGAGCAGGGCCAGGAATAGGCCCTGGAATGGCCAACCATAACCAGTTCCAGCAACCCCAAGGAGTTGGCTACCCACCACAGCAGCAGCAGCGGATGCAGCATCACATGCAACAGATGCAACAAGGAAATATGGGACAGATAGGCCAGCTTCCCCAGGCCTTGGGAGCAGAGGCAGGTGCCAGTCTACAGGCCTATCAGCAGCGACTCCTTCAGCAACAGATGGGGTCCCCTGTTCAGCCCAACCCCATGAGCCCCCAGCAGCATATGCTCCCAAATCAGGCCCAGTCCCCACACCTACAAGGCCAGCAGATCCCTAATTCTCTCTCCAATCAAGTGCGCTCTCCCCAGCCTGTCCCTTCTCCACGGCCACAGTCCCAGCCCCCCCACTCCAGTCCTTCCCCAAGGATGCAGCCTCAGCCTTCTCCACACCACGTTTCCCCACAGACAAGTTCCCCACATCCTGGACTGGTAGCTGCCCAGGCCAACCCCATGGAACAAGGGCATTTTGCCAGCCCGGACCAGAATTCAATGCTTTCTCAGCTTGCTAGCAATCCAGGCATGGCAAACCTCCATGGTGCAAGCGCCACGGACCTGGGACTCAGCACCGATAACTCAGACTTGAATTCAAACCTCTCACAGAGTACACTAGACATACACTAGAGACACCTTGTAGTATTTTGGGAGCAAAAAAATTATTTTCTCTTAACAAGACTTTTTGTACTGAAAACAATTTTTTTGAATCTTTCGTAGCCTAAAAGACAATTTTCCTTGGAACACATAAGAACTGTGCAGTAGCCGTTTGTGGTTTAAAGCAAACATGCAAGATGAACCTGAGGGATGATAGAATACAAAGAATATATTTTTGTTATGGCTGGTTACCACCAGCCTTTCTTCCCCTTTGTGTGTGTGGTTCAAGTGTGCACTGGGAGGAGG 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GGGAAAAGCCCTTAGAATATATTGTAATAGGTTTGACTTAAATTGTGGACACATTCCATGGCTGTTTAAATTTAGGTTGTAAATCCAAGTATTGGCCTGGTTGTAGGGTGACAGAAGCAGCGAACATTGCTGGCCAGAGACTGTGAGTGTGGCTGCCAGTGTGCACAGATGTTGAATAATCTGTTATCAGTACAGCAGTTTCTCACAAGTTCCTAATTTCTTAAGGGGATGTTTTACATTTTATTACTTTAATAGGTGTTTATAGTTATATACTAATTAATGTCAAATACATATGTAATACCAGCTTTTTATACCTTTTACACTAATGGTTATGAGAATTGATGGTTGTTACAAGTTTTTTCAAACTTCAATGAACAAGAATTTTATTGCTTTGTCAACAAAGACTAAGATTTTTTATCCATTCCATTCCCTTCCAAACCTGTAGGAAAAGTTACACAGGAAAGTTGCATAGGGGACCTTCATGAGTCCAGGCCAGTTGTTTTTCATACTGTCTCCATATTTGGATTTGTCTGGTTTGTTGTAATTAGATTGAGGTTAAACCATGGATTGCATCTTAAAGTAGACTGCCTTGAGGCAAAATGTCCACTGTGCATGGTGCTATACCTCACCCAGACCATTGTTACTCTGAAGGAGTTACTGAATGAAGGAGAAAAAAATCACAGGATGTGCATTTCAGTTCTATTTATAGTCAGTCTCAAGAGACCAAAGAGGTAAAGCAGGAAAAGGAACAGGAGGCGTATGGTGGTGAAACTAACTCAGCATTCGCCAGTCTCATTGGTGCTCAGCCTGCTGTACCTGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGCAGATCACTTGAGCTTAGGAGTTTGAGACCAGCCTGGGCAACATGGCGAAGCCTCGTCTCTACAAAAAATGCAGAAATTAGCCAGGTGTGGTGGTGTGGGCCTGTGGTCTCAGCTATTCAGGAGGCCATGGTGGGATAATTGCTTGAGCCCAGGAGGCAGAGGTTGTAGTGAGCCAAGATCACGCCACTGCATTCCAGCCTGGATGACAGAGCGAGGCCCTGTCTCAAAAAAAAGAGACTGTCTGTTTTTCAGGTCTTCTTTGTGATCCGCCTCATTGCTGGCCCTGCTGCCAACTCCCTGCCTCCCATTGTTGATCCTGATCCTCTCATCCCCTGCGATCTGATGGATGGTCGGGATGCGTTTCTCACGCTGGCAAGGGACAAGCACCTGGAGTTCTCTTCACTCCGAAGAGCCCAGTGGTCCACCATGTGCATGCTGGTGGAGCTGCACACGCAGAGCCAGGACCGCTTTGTCTACACCTGCAATGAATGCAAGCACCATGTGGAGACACGCTGGCACTGTACTGTCTGTGAGGTAGGCACCGGGTTGTGGGAAGGAGGAGGTGAGCTCCGCAGGGTTGTTCTGAGGGGCCATGCAGCCACGTATTTTATAGAGGCCTGTGGGATGCTAGGGGCTTGGCCTCGTGTTTGAGGGGCAGAGCTGAAGAGGCTAGTTTTTGTTCTACGAAAGGGGCTTTTCTAGCCCAAACAATATCTAAAATACTTTTGAATGACTTAAATCTTGGAGAGTTTACGTGCACCTCCTGTTTTTTCCCTAGGATTATGACTTGTGTATCACCTGCTATAACACTAAAAACCATGACCACAAAATGGAGAAACTAGGCCTTGGCTTAGATGATGAGAGCAACAACCAGCAGGCTGCAGCCACCCAGAGCCCAGGCGATTCTCGCCGCCTGAGTATCCAGCGCTGCATCCAGTCTCTGGTCCATGCTTGCCAGTGTCGGAATGCCAATTGCTCACTGCCATCCTGCCAGAAGATGAAGCGGGTTGTGCAGCATACCAAGGGTTGCAAACGGAAAACCAATGGCGGGTGCCCCATCTGCAAGCAGCTCATTGCCCTCTGCTGCTACCATGCCAAGCACTGCCAGGAGAACAAATGCCCGGTGCCGTTCTGCCTAAACATCAAGCAGAAGCTCCGGCAGCAACAGCTGCAGCACCGACTACAGCCGGCCCAAATGCTTCGCAGGAGGATGGCCAGCATGCAGCGGACTGGTGTGGTTGGGCAGCAACAGGGCCTCCCTTCCCCCACTCCTGCCACTCCAACGACACCAACTGGCCAACAGCCAACCACCCCGCAGACGCCCCAGCCCACTTCTCAGCCTCAGCCTACCCCTCCCAATAGCATGCCACCCTACTTGCCCAGGACTCAAGCTGCTGGCCCTGTGTCCCAGGGTAAGGCAGCAGGCCAGGTGACCCCTCCAACCCCTCCTCAGACTGCTCAGCCACCCCTTCCAGGGCCCCCACCTGCAGCAGTGGAAATGGCAATGCAGATTCAGAGAGCAGCGGAGACGCAGCGCCAGATGGCCCACGTGCAAATTTTTCAAAGGCCAATCCAACACCAGATGCCCCCGATGACTCCCATGGCCCCCATGGGTATGAACCCACCTCCCATGACCAGAGGTCCCAGTGGGCATTTGGAGCCAGGGATGGGACCGACAGGGATGCAGCAACAGCCACCCTGGAGCCAAGGAGGATTGCCTCAGCCCCAGCAACTACAGTCTGGGATGCCAAGGCCAGCCATGATGTCAGTGGCCCAGCATGGTCAACCTTTGAACATGGCTCCACAACCAGGATTGGGCCAGGTAGGTATCAGCCCACTCAAACCAGGCACTGTGTCTCAACAAGCCTTACAAAACCTTTTGCGGACTCTCAGGTCTCCCAGCTCTCCCCTGCAGCAGCAACAGGTGCTTAGTATCCTTCACGCCAACCCCCAGCTGTTGGCTGCATTCATCAAGCAGCGGGCTGCCAAGTATGCCAACTCTAATCCACAACCCATCCCTGGGCAGCCTGGCATGCCCCAGGGGCAGCCAGGGCTACAGCCACCTACCATGCCAGGTCAGCAGGGGGTCCACTCCAATCCAGCCATGCAGAACATGAATCCAATGCAGGCGGGCGTTCAGAGGGCTGGCCTGCCCCAGCAGCAACCACAGCAGCAACTCCAGCCACCCATGGGAGGGATGAGCCCCCAGGCTCAGCAGATGAACATGAACCACAACACCATGCCTTCACAATTCCGAGACATCTTGAGACGACAGCAAATGATGCAACAGCAGCAGCAACAGGGAGCAGGGCCAGGAATAGGCCCTGGAATGGCCAACCATAACCAGTTCCAGCAACCCCAAGGAGTTGGCTACCCACCACAGCAGCAGCAGCGGATGCAGCATCACATGCAACAGATGCAACAAGGAAATATGGGACAGATAGGCCAGCTTCCCCAGGCCTTGGGAGCAGAGGCAGGTGCCAGTCTACAGGCCTATCAGCAGCGACTCCTTCAGCAACAGATGGGGTCCCCTGTTCAGCCCAACCCCATGAGCCCCCAGCAGCATATGCTCCCAAATCAGGCCCAGTCCCCACACCTACAAGGCCAGCAGATCCCTAATTCTCTCTCCAATCAAGTGCGCTCTCCCCAGCCTGTCCCTTCTCCACGGCCACAGTCCCAGCCCCCCCACTCCAGTCCTTCCCCAAGGATGCAGCCTCAGCCTTCTCCACACCACGTTTCCCCACAGACAAGTTCCCCACATCCTGGACTGGTAGCTGCCCAGGCCAACCCCATGGAACAAGGGCATTTTGCCAGCCCGGACCAGAATTCAATGCTTTCTCAGCTTGCTAGCAATCCAGGCATGGCAAACCTCCATGGTGCAAGCGCCACGGACCTGGGACTCAGCACCGATAACTCAGACTTGAATTCAAACCTCTCACAGAGTACACTAGACATACACTAGAGACACCTTGTAGTATTTTGGGAGCAAAAAAATTATTTTCTCTTAACAAGACTTTTTGTACTGAAAACAATTTTTTTGAATCTTTCGTAGCCTAAAAGACAATTTTCCTTGGAACACATAAGAACTGTGCAGTAGCCGTTTGTGGTTTAAAGCAAACATGCAAGATGAACCTGAGGGATGATAGAATACAAAGAATATATTTTTGTTATGGCTGGTTACCACCAGCCTTTCTTCCCCTTTGTGTGTGTGGTTCAAGTGTGCACTGGGAGGAGG 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Task1_train_28859 | This alteration in EP300 (E1A binding protein p300) on Chromosome 22 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Carcinoma of colon | CCCTGCGATCTGATGGATGGTCGGGATGCGTTTCTCACGCTGGCAAGGGACAAGCACCTGGAGTTCTCTTCACTCCGAAGAGCCCAGTGGTCCACCATGTGCATGCTGGTGGAGCTGCACACGCAGAGCCAGGACCGCTTTGTCTACACCTGCAATGAATGCAAGCACCATGTGGAGACACGCTGGCACTGTACTGTCTGTGAGGTAGGCACCGGGTTGTGGGAAGGAGGAGGTGAGCTCCGCAGGGTTGTTCTGAGGGGCCATGCAGCCACGTATTTTATAGAGGCCTGTGGGATGCTAGGGGCTTGGCCTCGTGTTTGAGGGGCAGAGCTGAAGAGGCTAGTTTTTGTTCTACGAAAGGGGCTTTTCTAGCCCAAACAATATCTAAAATACTTTTGAATGACTTAAATCTTGGAGAGTTTACGTGCACCTCCTGTTTTTTCCCTAGGATTATGACTTGTGTATCACCTGCTATAACACTAAAAACCATGACCACAAAATGGAGAAACTAGGCCTTGGCTTAGATGATGAGAGCAACAACCAGCAGGCTGCAGCCACCCAGAGCCCAGGCGATTCTCGCCGCCTGAGTATCCAGCGCTGCATCCAGTCTCTGGTCCATGCTTGCCAGTGTCGGAATGCCAATTGCTCACTGCCATCCTGCCAGAAGATGAAGCGGGTTGTGCAGCATACCAAGGGTTGCAAACGGAAAACCAATGGCGGGTGCCCCATCTGCAAGCAGCTCATTGCCCTCTGCTGCTACCATGCCAAGCACTGCCAGGAGAACAAATGCCCGGTGCCGTTCTGCCTAAACATCAAGCAGAAGCTCCGGCAGCAACAGCTGCAGCACCGACTACAGCAGGCCCAAATGCTTCGCAGGAGGATGGCCAGCATGCAGCGGACTGGTGTGGTTGGGCAGCAACAGGGCCTCCCTTCCCCCACTCCTGCCACTCCAACGACACCAACTGGCCAACAGCCAACCACCCCGCAGACGCCCCAGCCCACTTCTCAGCCTCAGCCTACCCCTCCCAATAGCATGCCACCCTACTTGCCCAGGACTCAAGCTGCTGGCCCTGTGTCCCAGGGTAAGGCAGCAGGCCAGGTGACCCCTCCAACCCCTCCTCAGACTGCTCAGCCACCCCTTCCAGGGCCCCCACCTGCAGCAGTGGAAATGGCAATGCAGATTCAGAGAGCAGCGGAGACGCAGCGCCAGATGGCCCACGTGCAAATTTTTCAAAGGCCAATCCAACACCAGATGCCCCCGATGACTCCCATGGCCCCCATGGGTATGAACCCACCTCCCATGACCAGAGGTCCCAGTGGGCATTTGGAGCCAGGGATGGGACCGACAGGGATGCAGCAACAGCCACCCTGGAGCCAAGGAGGATTGCCTCAGCCCCAGCAACTACAGTCTGGGATGCCAAGGCCAGCCATGATGTCAGTGGCCCAGCATGGTCAACCTTTGAACATGGCTCCACAACCAGGATTGGGCCAGGTAGGTATCAGCCCACTCAAACCAGGCACTGTGTCTCAACAAGCCTTACAAAACCTTTTGCGGACTCTCAGGTCTCCCAGCTCTCCCCTGCAGCAGCAACAGGTGCTTAGTATCCTTCACGCCAACCCCCAGCTGTTGGCTGCATTCATCAAGCAGCGGGCTGCCAAGTATGCCAACTCTAATCCACAACCCATCCCTGGGCAGCCTGGCATGCCCCAGGGGCAGCCAGGGCTACAGCCACCTACCATGCCAGGTCAGCAGGGGGTCCACTCCAATCCAGCCATGCAGAACATGAATCCAATGCAGGCGGGCGTTCAGAGGGCTGGCCTGCCCCAGCAGCAACCACAGCAGCAACTCCAGCCACCCATGGGAGGGATGAGCCCCCAGGCTCAGCAGATGAACATGAACCACAACACCATGCCTTCACAATTCCGAGACATCTTGAGACGACAGCAAATGATGCAACAGCAGCAGCAACAGGGAGCAGGGCCAGGAATAGGCCCTGGAATGGCCAACCATAACCAGTTCCAGCAACCCCAAGGAGTTGGCTACCCACCACAGCAGCAGCAGCGGATGCAGCATCACATGCAACAGATGCAACAAGGAAATATGGGACAGATAGGCCAGCTTCCCCAGGCCTTGGGAGCAGAGGCAGGTGCCAGTCTACAGGCCTATCAGCAGCGACTCCTTCAGCAACAGATGGGGTCCCCTGTTCAGCCCAACCCCATGAGCCCCCAGCAGCATATGCTCCCAAATCAGGCCCAGTCCCCACACCTACAAGGCCAGCAGATCCCTAATTCTCTCTCCAATCAAGTGCGCTCTCCCCAGCCTGTCCCTTCTCCACGGCCACAGTCCCAGCCCCCCCACTCCAGTCCTTCCCCAAGGATGCAGCCTCAGCCTTCTCCACACCACGTTTCCCCACAGACAAGTTCCCCACATCCTGGACTGGTAGCTGCCCAGGCCAACCCCATGGAACAAGGGCATTTTGCCAGCCCGGACCAGAATTCAATGCTTTCTCAGCTTGCTAGCAATCCAGGCATGGCAAACCTCCATGGTGCAAGCGCCACGGACCTGGGACTCAGCACCGATAACTCAGACTTGAATTCAAACCTCTCACAGAGTACACTAGACATACACTAGAGACACCTTGTAGTATTTTGGGAGCAAAAAAATTATTTTCTCTTAACAAGACTTTTTGTACTGAAAACAATTTTTTTGAATCTTTCGTAGCCTAAAAGACAATTTTCCTTGGAACACATAAGAACTGTGCAGTAGCCGTTTGTGGTTTAAAGCAAACATGCAAGATGAACCTGAGGGATGATAGAATACAAAGAATATATTTTTGTTATGGCTGGTTACCACCAGCCTTTCTTCCCCTTTGTGTGTGTGGTTCAAGTGTGCACTGGGAGGAGGCTGAGGCCTGTGAAGCCAAACAATATGCTCCTGCCTTGCACCTCCAATAGGTTTTATTATTTTTTTTAAATTAATGAACATATGTAATATTAATAGTTATTATTTACTGGTGCAGATGGTTGACATTTTTCCCTATTTTCCTCACTTTATGGAAGAGTTAAAACATTTCTAAACCAGAGGACAAAAGGGGTTAATGTTACTTTAAAATTACATTCTATATATATATAAATATATATAAATATATATTAAAATACCAGTTTTTTTTCTCTGGGTGCAAAGATGTTCATTCTTTTAAAAAATGTTTAAAAAAAAAAAAAAACTGCCTTTCTTCCCCTCAAGTCAACTTTTGTGCTCCAGAAAATTTTCTATTCTGTAAGTCTGAGCGTAAAACTTCAAGTATTAAAATAATTTGTACATGTAGAGAGAAAAATGACTTTTTCAAAAATATACAGGGGCAGCTGCCAAATTGATGTATTATATATTGTGGTTTCTGTTTCTTGAAAGAATTTTTTTCGTTATTTTTACATCTAACAAAGTAAAAAAATTAAAAAGAGGGTAAGAAACGATTCCGGTGGGATGATTTTAACATGCAAAATGTCCCTGGGGGTTTCTTCTTTGCTTGCTTTCTTCCTCCTTACCCTACCCCCCACTCACACACACACACACACACACACACACACACACACACACACACTTTCTATAAAACTTGAAAATAGCAAAAACCCTCAACTGTTGTAAATCATGCAATTAAAGTTGATTACTTATAAATATGAACTTTGGATCACTGTATAGACTGTTAAATTTGATTTCTTATTACCTATTGTTAAATAAACTGTGTGAGACAGACACCCTGACTTTGTTTCACTTGATAACACATCTTTGTCTTGGAGTACACCCGTTTTAAGTGCCTAATGCTTAGGATTCAGAGGAAAAAGTGAAAGCATTAGCTTATAGCCTCTTTAATCTACTACGTATAATGTATTCACAAGTAGATCTTGGTGAATTTATCCAAAGTTCTGGGAAAAAGTACTGCAGGTACCAGCTAACAGTCAAGGTGGAAGTGATAACCTACTTAACACCTTGATACAGGACCCCTTAAGGATGACCTCATGGTCTTCCAATCACCTTCATCTTACAGGGATGAGAAGGAGGACCTAAGAAGACGGATCATATCTGCCTAAGTCCCAAGTA 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CCCTGCGATCTGATGGATGGTCGGGATGCGTTTCTCACGCTGGCAAGGGACAAGCACCTGGAGTTCTCTTCACTCCGAAGAGCCCAGTGGTCCACCATGTGCATGCTGGTGGAGCTGCACACGCAGAGCCAGGACCGCTTTGTCTACACCTGCAATGAATGCAAGCACCATGTGGAGACACGCTGGCACTGTACTGTCTGTGAGGTAGGCACCGGGTTGTGGGAAGGAGGAGGTGAGCTCCGCAGGGTTGTTCTGAGGGGCCATGCAGCCACGTATTTTATAGAGGCCTGTGGGATGCTAGGGGCTTGGCCTCGTGTTTGAGGGGCAGAGCTGAAGAGGCTAGTTTTTGTTCTACGAAAGGGGCTTTTCTAGCCCAAACAATATCTAAAATACTTTTGAATGACTTAAATCTTGGAGAGTTTACGTGCACCTCCTGTTTTTTCCCTAGGATTATGACTTGTGTATCACCTGCTATAACACTAAAAACCATGACCACAAAATGGAGAAACTAGGCCTTGGCTTAGATGATGAGAGCAACAACCAGCAGGCTGCAGCCACCCAGAGCCCAGGCGATTCTCGCCGCCTGAGTATCCAGCGCTGCATCCAGTCTCTGGTCCATGCTTGCCAGTGTCGGAATGCCAATTGCTCACTGCCATCCTGCCAGAAGATGAAGCGGGTTGTGCAGCATACCAAGGGTTGCAAACGGAAAACCAATGGCGGGTGCCCCATCTGCAAGCAGCTCATTGCCCTCTGCTGCTACCATGCCAAGCACTGCCAGGAGAACAAATGCCCGGTGCCGTTCTGCCTAAACATCAAGCAGAAGCTCCGGCAGCAACAGCTGCAGCACCGACTACAGCAGGCCCAAATGCTTCGCAGGAGGATGGCCAGCATGCAGCGGACTGGTGTGGTTGGGCAGCAACAGGGCCTCCCTTCCCCCACTCCTGCCACTCCAACGACACCAACTGGCCAACAGCCAACCACCCCGCAGACGCCCCAGCCCACTTCTCAGCCTCAGCCTACCCCTCCCAATAGCATGCCACCCTACTTGCCCAGGACTCAAGCTGCTGGCCCTGTGTCCCAGGGTAAGGCAGCAGGCCAGGTGACCCCTCCAACCCCTCCTCAGACTGCTCAGCCACCCCTTCCAGGGCCCCCACCTGCAGCAGTGGAAATGGCAATGCAGATTCAGAGAGCAGCGGAGACGCAGCGCCAGATGGCCCACGTGCAAATTTTTCAAAGGCCAATCCAACACCAGATGCCCCCGATGACTCCCATGGCCCCCATGGGTATGAACCCACCTCCCATGACCAGAGGTCCCAGTGGGCATTTGGAGCCAGGGATGGGACCGACAGGGATGCAGCAACAGCCACCCTGGAGCCAAGGAGGATTGCCTCAGCCCCAGCAACTACAGTCTGGGATGCCAAGGCCAGCCATGATGTCAGTGGCCCAGCATGGTCAACCTTTGAACATGGCTCCACAACCAGGATTGGGCCAGGTAGGTATCAGCCCACTCAAACCAGGCACTGTGTCTCAACAAGCCTTACAAAACCTTTTGCGGACTCTCAGGTCTCCCAGCTCTCCCCTGCAGCAGCAACAGGTGCTTAGTATCCTTCACGCCAACCCCCAGCTGTTGGCTGCATTCATCAAGCAGCGGGCTGCCAAGTATGCCAACTCTAATCCACAACCCATCCCTGGGCAGCCTGGCATGCCCCAGGGGCAGCCAGGGCTACAGCCACCTACCATGCCAGGTCAGCAGGGGGTCCACTCCAATCCAGCCATGCAGAACATGAATCCAATGCAGGCGGGCGTTCAGAGGGCTGGCCTGCCCCAGCAGCAACCACAGCAGCAACTCCAGCCACCCATGGGAGGGATGAGCCCCCAGGCTCAGCAGATGAACATGAACCACAACACCATGCCTTCACAATTCCGAGACATCTTGAGACGACAGCAAATGATGCAACAGCAGCAGCAACAGGGAGCAGGGCCAGGAATAGGCCCTGGAATGGCCAACCATAACCAGTTCCAGCAACCCCAAGGAGTTGGCTACCCACAACAGCAGCAGCAGCGGATGCAGCATCACATGCAACAGATGCAACAAGGAAATATGGGACAGATAGGCCAGCTTCCCCAGGCCTTGGGAGCAGAGGCAGGTGCCAGTCTACAGGCCTATCAGCAGCGACTCCTTCAGCAACAGATGGGGTCCCCTGTTCAGCCCAACCCCATGAGCCCCCAGCAGCATATGCTCCCAAATCAGGCCCAGTCCCCACACCTACAAGGCCAGCAGATCCCTAATTCTCTCTCCAATCAAGTGCGCTCTCCCCAGCCTGTCCCTTCTCCACGGCCACAGTCCCAGCCCCCCCACTCCAGTCCTTCCCCAAGGATGCAGCCTCAGCCTTCTCCACACCACGTTTCCCCACAGACAAGTTCCCCACATCCTGGACTGGTAGCTGCCCAGGCCAACCCCATGGAACAAGGGCATTTTGCCAGCCCGGACCAGAATTCAATGCTTTCTCAGCTTGCTAGCAATCCAGGCATGGCAAACCTCCATGGTGCAAGCGCCACGGACCTGGGACTCAGCACCGATAACTCAGACTTGAATTCAAACCTCTCACAGAGTACACTAGACATACACTAGAGACACCTTGTAGTATTTTGGGAGCAAAAAAATTATTTTCTCTTAACAAGACTTTTTGTACTGAAAACAATTTTTTTGAATCTTTCGTAGCCTAAAAGACAATTTTCCTTGGAACACATAAGAACTGTGCAGTAGCCGTTTGTGGTTTAAAGCAAACATGCAAGATGAACCTGAGGGATGATAGAATACAAAGAATATATTTTTGTTATGGCTGGTTACCACCAGCCTTTCTTCCCCTTTGTGTGTGTGGTTCAAGTGTGCACTGGGAGGAGGCTGAGGCCTGTGAAGCCAAACAATATGCTCCTGCCTTGCACCTCCAATAGGTTTTATTATTTTTTTTAAATTAATGAACATATGTAATATTAATAGTTATTATTTACTGGTGCAGATGGTTGACATTTTTCCCTATTTTCCTCACTTTATGGAAGAGTTAAAACATTTCTAAACCAGAGGACAAAAGGGGTTAATGTTACTTTAAAATTACATTCTATATATATATAAATATATATAAATATATATTAAAATACCAGTTTTTTTTCTCTGGGTGCAAAGATGTTCATTCTTTTAAAAAATGTTTAAAAAAAAAAAAAAACTGCCTTTCTTCCCCTCAAGTCAACTTTTGTGCTCCAGAAAATTTTCTATTCTGTAAGTCTGAGCGTAAAACTTCAAGTATTAAAATAATTTGTACATGTAGAGAGAAAAATGACTTTTTCAAAAATATACAGGGGCAGCTGCCAAATTGATGTATTATATATTGTGGTTTCTGTTTCTTGAAAGAATTTTTTTCGTTATTTTTACATCTAACAAAGTAAAAAAATTAAAAAGAGGGTAAGAAACGATTCCGGTGGGATGATTTTAACATGCAAAATGTCCCTGGGGGTTTCTTCTTTGCTTGCTTTCTTCCTCCTTACCCTACCCCCCACTCACACACACACACACACACACACACACACACACACACACACACTTTCTATAAAACTTGAAAATAGCAAAAACCCTCAACTGTTGTAAATCATGCAATTAAAGTTGATTACTTATAAATATGAACTTTGGATCACTGTATAGACTGTTAAATTTGATTTCTTATTACCTATTGTTAAATAAACTGTGTGAGACAGACACCCTGACTTTGTTTCACTTGATAACACATCTTTGTCTTGGAGTACACCCGTTTTAAGTGCCTAATGCTTAGGATTCAGAGGAAAAAGTGAAAGCATTAGCTTATAGCCTCTTTAATCTACTACGTATAATGTATTCACAAGTAGATCTTGGTGAATTTATCCAAAGTTCTGGGAAAAAGTACTGCAGGTACCAGCTAACAGTCAAGGTGGAAGTGATAACCTACTTAACACCTTGATACAGGACCCCTTAAGGATGACCTCATGGTCTTCCAATCACCTTCATCTTACAGGGATGAGAAGGAGGACCTAAGAAGACGGATCATATCTGCCTAAGTCCCAAGTA 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Task1_train_28860 | With a mutation on Chromosome 22 in gene ACO2 (aconitase 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Infantile cerebellar-retinal degeneration | AATTATACCTCTGTTTAAAGCTGTTTAAAAATGAAAGGCTATAGAAGTGGAAGCTGTTATCTCATCCCAGTGCAAGCCCTGGTATTTAGAGATGGGCTGGCTGAGCTGAGGAGAGCAGTTGCTTATCTTGTTAAATAGTGGTTTCAGTAATAGGTCAGGTTTGGGCTTTTTTGTTTTTTTTTTGTTTGTTTGTTTTTATTAGAGACAGCATGTCACTCTGTTGCTCAAGCTGGAGTGCAGTGATGTGATCAGGGCTCACTGCAGCCTTGATCTCCTGGGCTTAAGTGATCCTCCCGCCTCAGCCTCCTGCGTAGTTGGGACTACAGGCACGCATCACCCTGTCTGGCTCATTCTTTTTTTTTTTTTGAGATAGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGTGGCGCTATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGTGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCATGATCCGCCTGTCTCGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGCACCCGGCCTCATTCTGTTTTTTATAGAGACAAGGTCTCACTCTGTTGTCCAGGCTGATCTTGAACTGGCCTCAAGCGATCCTCCTGCTTTGGTCTCCCAAAATGCTAGGATTACAGGCGTGAGCCACCACACCAGGCCCCCAGGTCAGGGTTAAACTCAGAGCTTCTGACTCCCAGTCTGAAACTTTTTTCTTGGCCTCAAACAATAGGACAGAGCCTGTCAGGTGTGGGTTGAACTCTGCTCCTCCTTAGGAAGGAAGTCTCAAGCTTGGCCTAAGCTTTGAGAATTCTGGGGGGCAGAGCGTGAGGTCTGAAAGGGGCTGTTGTGGCAGGCAGGGCGGCCACAACAGCCCCTTTGCTCTGTTGTGTGGGTGCAGCCGGGAGTCAGCCGGAACGTTGAGCCTGGCAGGGAGAGTGGACCCGCGCAGAGCTCAGTCTAGATGGCTGGGAGGCTTGTGGGGAGAAGACGGTTGAGTCCTGACAGGGCCGGACCCCAGGGCAGGTTTGGACTGCCATTTTGGCTCTGATGAGGAAGGGAGGGGTGGGGCCTCCGGGGAAATGGGGTCTAGGAGGAGGAGGAGCTGTGAGAGGCCAGTGGCAGTGACCCGGTCTCTGTTCTTGAAAACTGACAGATACTCCTGTCTATGTCTGGAGCTAATGGGCAAAGTCTTAGTGTCATAGTTGGGTAGCCAGGCATCCCAGGCCTGAGGTGTGGAGGGTTGTAGATGGCGGACAGGGTGGACAGGTGAAGGGGATGCTGGTCCTGATTCCCTGTGCCTTAGTGGGGCTGAGGGCACAGAGGGAAGTAGCGAAATCTAGCTGTGAACTTGGTCACTCTCCTGAGCCTGTTTCTTGGTTGTTGTTAAATGGCTTTCTTGGTTGTTGTTGTTGTTAAATGGCAGGAATGATGAGATATGCATGTTGCGGGGACTTAGTAGGAATTACGATGCTGGGAAAGCCAGGATCCTTTGAAAAGAACCAGCGCTGCCCTCTTGTGATGTTGTCATTCACTTACTCATCAAGTAATTGTGGAGCACCTAACAAGTGCCAGGTGCTGCAGGAGGTGAGGAGGTGGTGCAGTGAACAGGACCCAGCAGTCCCCACCCAAGTGGAACGTTGAGGTCCTGAGTTCAGACTCCCTGTCCCTGGCCACTGTTGAGGTTGCCACATGGACTGAGAGGGAGAGGCAGGGCGGGAGGAGGCCGTGCAGCTAGCACCAGGCCACCCTTCTGCTCTTCTCCCCACAGACTGAACCGGCCGCTGACACTCTCGGAGAAGATTGTGTATGGACACCTGGATGACCCCGCCAGCCAGGAAATTGAGCGAGGCAAGTCGTACCTGCGGCTGCGGCCGGACCGTGTGGCCATGCAGGATGCGACGGCCCAGATGGCCATGCTCCAGTTCATCAGCAGCGGGCTGTCCAAGGTGGCTGTGCCATCCACCATCCACTGTGACCATCTGATTGAAGCCCAGGTTGGGGGCGAGAAAGACCTGCGCCGGGCCAAGGTGAGCAGAAGGTGGCTTTGGGGGTGGGCAAGTGGGCAAGACTGGGCGAGAGGCCTCACCCTCACACTGGAGCAAACCAGGGCATTGCCTCCAAATTCTCACACCTCTTTGGATTGGTCTGCTTTTAAAACTTGATTTTACTTGTTTCTCTTTCTAAAAATAGCACTTGCTCATTATGTTAAAAAATACAGAGGAAGCCTAAAGAAAGAAAAAATCATCCTTGACCTTACCACACTGCAGGTCCTTTTTCTGTCCTGTTGGAGGATGATGTGGATCCTGCCAGGTGCTCTGGAAGGGGCCATGCAGGCCTCCCTGTCTGCCTGAGCAGTGAGGGGTGCATCTTAGCATAGTTTGCCAGCATCCCATTTGCACCCACTCCCGCTCTCCTCTGACCCTCCAAGGACCCTCTCCGGGAGGTAGGCGTGCTAGGGTCACTATTTGTAAATTTGAGGCGGCAGTGGCATCATACTTGAGTTCTGTAACTACATGAGGGCACGATTAGGGCTCAATGCTGATCCTGGCTCCCACTCTGGTGCTCTGTCACTGAGGAGCCTCCTTTGGGGGCCATTCTTCTGTGAGTTTTGCTTAACTACATGGGGGTGGCTGTATGCCATGCTGAAGGCTTTTCCCCCACCCTTCTATGAAATCGAGTTCCTGCTCCTTCTCCCAGGCTCGGCTTGTGGGACCTTTGTGTCAGCCTGCTCTTGGCAACAGCGGGCCTCTCTCTCCCAGCTCTGGGCCTCCCCACTCTCCAGCCCCTGCAGTGGGAGTGGGTCCCCCTCACGGGGAGGGGCGTTGGCAGGAGCTGAATGCTGGCAGGGCTGCGGCCTGTGGGCATGTGATTGAAAGTGCTCCAGCTCCCAGGGTCAGCATGGCTCAAAGCCTCCCAGCCCCATGGGAAACACTCGGGGCGGCGCTCTCACTCAGACCCTCTCTTCCACCCTGGCCCCCTGGTGGTATCCTGGCTCCACAGTGGCTCTTTCCCCTCAGCTGAAAGGACAGTCCTGCCTGCCGGCCGGCGGTTTCCACATTAGCAACAACACTGGTGGGGGTAATAATGTTACAGGAGCTCCCACAGTGCCGGGAACTGCACATGGCCGGGAACGTGGGTCCTCTGCAGCCCTGGGGACAGCTGCCCACAACAGGGCTGCTACCTTCTGGGGCTGGCTTTCTGCTTGCTTTATGGGCTCAGAGTGAATCTTCTGGAGATGAGATGCACACTCATAGCATTCAGAGCTCATTCCCTCATGCGTTCAACAAATTGAACATTCTTTATGTGCCAGGCACTGGGCTAGGTACTGAGGTTCAGTGTGAACAAGTCAGGCAGGGGCCCTGCCTTCAGGGATCTGCTTGTGGGTGTGGACACTAAACAATGGCCGAGGTAGGTAACTGCAGATCTGGGTATGTGTTAGGAAGGGAAAGTGCGGGACTTGGTCAGTATAAAAAAGAGGTCTAATTTAGATGCTGGGGGAAAGAGAGAGCTTCTTTGAGGATGTGACAGATAACCTGAGGACTGAACATATGAGTTGCATTGACTGGAGGAAGAACATGCTAGAAAGAACAGCATTTGCAAAGACCCTGAGCCAGGAAGAAACTTGATGCTTTTGTGGAAGTGAGAGGGGGCCTGTACTGCTGGAGTTCTCTGTGTTTGGAAGAGCGGGTGGTATGAGGTGGGCAGGGGCAGCCAGGAACGCGAGGGCTGTGGGAACGCTATGGTCACCATCCTCAGAGTCCTAGAACAGTTTAAGCGGAGAAAGAATATGGTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTATCCCCCAGGCTGGAGTGCAGTGACACACAATCTCGGCTCACTGCAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCATACCTGGCT 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AATTATACCTCTGTTTAAAGCTGTTTAAAAATGAAAGGCTATAGAAGTGGAAGCTGTTATCTCATCCCAGTGCAAGCCCTGGTATTTAGAGATGGGCTGGCTGAGCTGAGGAGAGCAGTTGCTTATCTTGTTAAATAGTGGTTTCAGTAATAGGTCAGGTTTGGGCTTTTTTGTTTTTTTTTTGTTTGTTTGTTTTTATTAGAGACAGCATGTCACTCTGTTGCTCAAGCTGGAGTGCAGTGATGTGATCAGGGCTCACTGCAGCCTTGATCTCCTGGGCTTAAGTGATCCTCCCGCCTCAGCCTCCTGCGTAGTTGGGACTACAGGCACGCATCACCCTGTCTGGCTCATTCTTTTTTTTTTTTTGAGATAGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGTGGCGCTATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGTGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCATGATCCGCCTGTCTCGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGCACCCGGCCTCATTCTGTTTTTTATAGAGACAAGGTCTCACTCTGTTGTCCAGGCTGATCTTGAACTGGCCTCAAGCGATCCTCCTGCTTTGGTCTCCCAAAATGCTAGGATTACAGGCGTGAGCCACCACACCAGGCCCCCAGGTCAGGGTTAAACTCAGAGCTTCTGACTCCCAGTCTGAAACTTTTTTCTTGGCCTCAAACAATAGGACAGAGCCTGTCAGGTGTGGGTTGAACTCTGCTCCTCCTTAGGAAGGAAGTCTCAAGCTTGGCCTAAGCTTTGAGAATTCTGGGGGGCAGAGCGTGAGGTCTGAAAGGGGCTGTTGTGGCAGGCAGGGCGGCCACAACAGCCCCTTTGCTCTGTTGTGTGGGTGCAGCCGGGAGTCAGCCGGAACGTTGAGCCTGGCAGGGAGAGTGGACCCGCGCAGAGCTCAGTCTAGATGGCTGGGAGGCTTGTGGGGAGAAGACGGTTGAGTCCTGACAGGGCCGGACCCCAGGGCAGGTTTGGACTGCCATTTTGGCTCTGATGAGGAAGGGAGGGGTGGGGCCTCCGGGGAAATGGGGTCTAGGAGGAGGAGGAGCTGTGAGAGGCCAGTGGCAGTGACCCGGTCTCTGTTCTTGAAAACTGACAGATACTCCTGTCTATGTCTGGAGCTAATGGGCAAAGTCTTAGTGTCATAGTTGGGTAGCCAGGCATCCCAGGCCTGAGGTGTGGAGGGTTGTAGATGGCGGACAGGGTGGACAGGTGAAGGGGATGCTGGTCCTGATTCCCTGTGCCTTAGTGGGGCTGAGGGCACAGAGGGAAGTAGCGAAATCTAGCTGTGAACTTGGTCACTCTCCTGAGCCTGTTTCTTGGTTGTTGTTAAATGGCTTTCTTGGTTGTTGTTGTTGTTAAATGGCAGGAATGATGAGATATGCATGTTGCGGGGACTTAGTAGGAATTACGATGCTGGGAAAGCCAGGATCCTTTGAAAAGAACCAGCGCTGCCCTCTTGTGATGTTGTCATTCACTTACTCATCAAGTAATTGTGGAGCACCTAACAAGTGCCAGGTGCTGCAGGAGGTGAGGAGGTGGTGCAGTGAACAGGACCCAGCAGTCCCCACCCAAGTGGAACGTTGAGGTCCTGAGTTCAGACTCCCTGTCCCTGGCCACTGTTGAGGTTGCCACATGGACTGAGAGGGAGAGGCAGGGCGGGAGGAGGCCGTGCAGCTAGCACCAGGCCACCCTTCTGCTCTTCTCCCCACAGACTGAACCGGCCGCTGACACTCTCGGAGAAGATTGTGTATGGACACCTGGATGACCCCGCCAGCCAGGAAATTGAGCGAGGCAAGTCGTACCTGCGGCTGCGGCCGGACCGTGTGGCCATGCAGGATGCGACGGCCCAGATGGCCATGCTCCAGTTCATCAGGAGCGGGCTGTCCAAGGTGGCTGTGCCATCCACCATCCACTGTGACCATCTGATTGAAGCCCAGGTTGGGGGCGAGAAAGACCTGCGCCGGGCCAAGGTGAGCAGAAGGTGGCTTTGGGGGTGGGCAAGTGGGCAAGACTGGGCGAGAGGCCTCACCCTCACACTGGAGCAAACCAGGGCATTGCCTCCAAATTCTCACACCTCTTTGGATTGGTCTGCTTTTAAAACTTGATTTTACTTGTTTCTCTTTCTAAAAATAGCACTTGCTCATTATGTTAAAAAATACAGAGGAAGCCTAAAGAAAGAAAAAATCATCCTTGACCTTACCACACTGCAGGTCCTTTTTCTGTCCTGTTGGAGGATGATGTGGATCCTGCCAGGTGCTCTGGAAGGGGCCATGCAGGCCTCCCTGTCTGCCTGAGCAGTGAGGGGTGCATCTTAGCATAGTTTGCCAGCATCCCATTTGCACCCACTCCCGCTCTCCTCTGACCCTCCAAGGACCCTCTCCGGGAGGTAGGCGTGCTAGGGTCACTATTTGTAAATTTGAGGCGGCAGTGGCATCATACTTGAGTTCTGTAACTACATGAGGGCACGATTAGGGCTCAATGCTGATCCTGGCTCCCACTCTGGTGCTCTGTCACTGAGGAGCCTCCTTTGGGGGCCATTCTTCTGTGAGTTTTGCTTAACTACATGGGGGTGGCTGTATGCCATGCTGAAGGCTTTTCCCCCACCCTTCTATGAAATCGAGTTCCTGCTCCTTCTCCCAGGCTCGGCTTGTGGGACCTTTGTGTCAGCCTGCTCTTGGCAACAGCGGGCCTCTCTCTCCCAGCTCTGGGCCTCCCCACTCTCCAGCCCCTGCAGTGGGAGTGGGTCCCCCTCACGGGGAGGGGCGTTGGCAGGAGCTGAATGCTGGCAGGGCTGCGGCCTGTGGGCATGTGATTGAAAGTGCTCCAGCTCCCAGGGTCAGCATGGCTCAAAGCCTCCCAGCCCCATGGGAAACACTCGGGGCGGCGCTCTCACTCAGACCCTCTCTTCCACCCTGGCCCCCTGGTGGTATCCTGGCTCCACAGTGGCTCTTTCCCCTCAGCTGAAAGGACAGTCCTGCCTGCCGGCCGGCGGTTTCCACATTAGCAACAACACTGGTGGGGGTAATAATGTTACAGGAGCTCCCACAGTGCCGGGAACTGCACATGGCCGGGAACGTGGGTCCTCTGCAGCCCTGGGGACAGCTGCCCACAACAGGGCTGCTACCTTCTGGGGCTGGCTTTCTGCTTGCTTTATGGGCTCAGAGTGAATCTTCTGGAGATGAGATGCACACTCATAGCATTCAGAGCTCATTCCCTCATGCGTTCAACAAATTGAACATTCTTTATGTGCCAGGCACTGGGCTAGGTACTGAGGTTCAGTGTGAACAAGTCAGGCAGGGGCCCTGCCTTCAGGGATCTGCTTGTGGGTGTGGACACTAAACAATGGCCGAGGTAGGTAACTGCAGATCTGGGTATGTGTTAGGAAGGGAAAGTGCGGGACTTGGTCAGTATAAAAAAGAGGTCTAATTTAGATGCTGGGGGAAAGAGAGAGCTTCTTTGAGGATGTGACAGATAACCTGAGGACTGAACATATGAGTTGCATTGACTGGAGGAAGAACATGCTAGAAAGAACAGCATTTGCAAAGACCCTGAGCCAGGAAGAAACTTGATGCTTTTGTGGAAGTGAGAGGGGGCCTGTACTGCTGGAGTTCTCTGTGTTTGGAAGAGCGGGTGGTATGAGGTGGGCAGGGGCAGCCAGGAACGCGAGGGCTGTGGGAACGCTATGGTCACCATCCTCAGAGTCCTAGAACAGTTTAAGCGGAGAAAGAATATGGTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTATCCCCCAGGCTGGAGTGCAGTGACACACAATCTCGGCTCACTGCAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCATACCTGGCT 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Task1_train_28861 | This genomic variant is located on Chromosome 22, within the ACO2 (aconitase 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Infantile cerebellar-retinal degeneration | CTCACCCCCATCTGTCCAGCCACACCCACAGACCGGGGAGCTCACTGTCACGGCCAGCGTCATCGTGACATCTTCTGCAGTCCTCATGTCTGCCTGACCTCTCCCCCTGGATGTGGACCACAAGTGTCTACACCGTGTGGACCACAAGTGTCTACACCGTGTAGACCACCCCGAATTCTGTGTGCCCAGCCTTCGTGGATCCAACTTTTACAAGCTTGAGGCTCTTTAGGGATGCACTAGTCTTAAATCCTTGTACGTGGCAGCATTGGCCAGTTCTTCGCAGCCAGGTCTTCCCTCTGCATCCCCAAGAGATGAGACCTTTGGACCTTAGAGTCTGCTAGGCAGATGCTTGTCCTGAGGCAGAGGCCCTGGGGTTTCTGTAAGATTTCTGGGAGCACTGGTGGGTCCTGAGAGTTCACAGAGCCTGTCACACCTCTCATGTGTTCTTCCCCACATCCCCGGGTGGGGCACTAACTCCATCTGACTGATGAGCGGCAGAACCTCAGGTGAAGGCTCTTGCTGCAAAACAATAAATAAAAATGTTGCTTCCCGCAGGCACTATTCTGTGCCTCATGGACAGGATCTCATCCAGTCATCAGTGAACCAATGATGTGAGCACGATTGTTAGCTATTTCTTGATAGGGAAACTGAGCTCCGAGAGAAGTGACTTGTCCATGGTCCCACAACAACTAGTAGATGGTGGGGCCAGACCTCAGACCCCCCGATACAGGACGCCTGGCTCAGGGCTTGCCAAGCAGTGTCCTGCAGCTTCAGGGGGCCAGTGCCTCAGAGGTGCCTGGTGCCTGGGCCACACTTGGGTGTTGAGCCTATACAGCACCCAAGGTGTTGAGCACTTGGGTGTTGAGGTGTTGCTGCCTTTCTTACCAAATGTTTTGGGGGAAGTGCTCCCCACGGCTGGGAGGAGCGCCTCAGTGAAGGGAGTACTGTGAAATGGGACAGGTGATGAGGCAGGGTGGCATCGCGCCTTGAGCAAGTCACATGGGTTCTCAGAGCCACCTCCAGATGCTGAAGTGGACGAGGCATCACCTATTCTTTGCAGTTGAGGAAAAGTTCATAGCTTTGTGTACCCACTGGGGCCTCCCAGGACTTCTTCCTCAGGGGCCTTGTGGGGCTGGAGCCAGCTCCTGGAAGAACCACCAACCCCGATGAGAAGCCAGGTGGGGATGCTCCACACCCAGGATGAGGCCGGGCCTGGGCCCATCACAGGACAGTTTCTCTGGTTCTTGTCACATCCTGGGGTCATGGTGGTATGGGTGTTTGGTTACTGTGCTACAAATGAGGAAACTGAGGCATGGGGCAGCATTCAAAGGCCCAAGACATATAGCAGGAAATATCAGAGCTATTCAAGAGCCCAGGCCACCTGTCTCCCAAGGCTCTGGCTCTTCTTGGCCACCCTGGAGACGGCCTGGATTAAATGGGGCTGCTCCTACCAGTTCCATCCTGGGAGAGTGGCTGGACGTGGTTGGGAGGCCCCGGGTCAGTGGGGCCATTTTTTGGTATTCTCGGCTGAGGGCTTCTAAATATAACATCTTGGATTATTTTTCAGATTATTCTGGAAAACTATGCGTACCCTGGTGTTCTTCTGATTGGCACTGACTCCCACACCCCCAATGGTGGCGGCCTTGGGGGCATCTGCATTGGAGTTGGGGGTGCCGATGCTGTGGATGTCATGGCTGGGATCCCCTGGGAGCTGAAGTGCCCCAAGGTGAGGGTGGGGAGGGACTCATTCTGGGCTGGCTGTGGGGTGGTGGTTGGTGGGGATGAACGGGAGACGGTGGGACCCAGGAGGGAAAAGGGAACAAGTTAGACTCGAATCTTCTGGGAGGGAGGTAGAGACCAATAAGCAGCAATGTGAATGGCAGCAGGGCCATCCTGACTTCGTGGCTGGCACAGGCACACACGGCCTCTCACAGCCGCCTCGCCCCCTCCTGTCCAGGTGATTGGCGTGAAGCTGACGGGCTCTCTCTCCGGTTGGTCCTCACCCAAAGATGTGATCCTGAAGGTGGCAGGCATCCTCACGGTGAAAGGTGGCACAGGTGCAATCGTGGAATACCACGGGCCTGGTGTAGACTCCATCTCCTGCACTGGTGAGGAAGGCGGCCAGGCGACGTGGCCCCTACCCTGTGCTGGGCCTGATGGGTCTCCAGTTGGGAGTAGAAGCGGTGAATGGCCTTCACTTGAGAATCTGTCTGTTCCATTTGGGGACTTGGGATAGACAGAGGTAGAAGGAAAATTGGAGACAGCATTAGAGATTGTCTAGTCCACATCCTCATTAAACAGATGAAGAGATTGAGATACCTGTCGAGGCTGCCGGTGACTTCCTAACTGTGTGGCCACACACGGTTAGGAGCCAAGTCAGCTTCTGCTGCTGGGCCCAGGCCATAGCACTAGGCCACCTTGGGTGATCTAGACGAATCCAGAGAGGACAGAGGCAGTGGTGGGAATGGGCAGAGCCAGGGCTTCATTCATGAAGCAGCTGCAGGCCCACATCCTCCCTTCGCTGAAGTTCGAGCCTCACTCACTTCCCTTGGATTAGAGATCGGTGCCTGTCCGCCTCCAAGACCAGGTAGGAGCCAGCTGCTCCCTGCCTGTCACTCCTGGTGACCTGGCCTGGATGCCTGGTCCTCAGAAATCCAGGGAGATTTGTAACAGTCTAGACTTCCCAGGTGCCTGCCTGGGCTCCCTGGCAGCCCTGCAGAACTCTGGTTCCCCTGCAGTGATGGGGGCTCACTCCTGCCACGGGACTGCTCAGTCAGGACGTTGGTAACAGGCCCATACCTCCGTCCTAGTGGCTCCTGAGGCAGGTGGCCTGGTAGCAGCTGCAGTACCTGTGAGCCCCACCAGTTCTGTGACGCTTTGTGGTCCAGACAGTGTGTATCATTTCAGTTTTTGTTTTTGTTCTTGTTTTTTGAGACAGAGTCTAACTCTGTCGCCCAGGCTGGAATGCAGTGGTGCAATCTCGGCTCACTACAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCGGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCATGATGCCTGGCTAATTTTTTTTGTATTTTTTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCATCACTGGAAAACTTGAGACACAGAAAAGTGTCTCCACCATGGTATGGCTGAAGGAGGGCAGGCCACCAGGCAGACAGACCAAGATCCGAATGTCAGCATCTACCTTTATGTGCTTTATGGCATGACCTTGAATCTCTCTGAGCCAGTTCCTCCCCTGCCAAAAAGAATAGCAACTGGGCAGTGTCTGGTCAGGTCAGCCTACAGTACGTGGTGCCTGTTCAATCTCTTGGGCGACAGTCAGGCCCCAAGCTCGCAGCTCAGTGTGTGGGGGCTGAATCTTCACCTGAGTCCTCTTCATTCTACCCAGCAGCCACCCTGAGCTGGGGCCCTGAGCTCTGATCCCCATGGCCTCCCCTCACCGGCCCAGGTTTTTACCCAGGGCCTCAAGGGATGAGTCGGCCCGCTGTCACCACATCTCTCTGAGTGGGAGGAGAAGCAATGCAGCTCCCTGGTGTGAAGATGCAGGTGGCCGCGTAGCAGGTGTGTGGGACCCTGGCCCGGCCACCAGCCAATGCCCGGGGCTCTGTTGCTCCACAGGCATGGCGACAATCTGCAACATGGGTGCAGAAATTGGGGCCACCACTTCCGTGTTCCCTTACAACCACAGGATGAAGAAGTACCTGAGCAAGACCGGCCGGGAAGGTGAGCTGGCAGGGGCAGGCCCGTGTGGGTGGAACAGTCACATGCCCGCTCCTCCCCAAGACAGAGCTATGCCTTTCCCTGTAGGGCAGGGGTTCTTAACCCATTGTCTCCAGACAGGCGTCCGAGGCTCTGAGAAAGCCCTGAAGAGGTGCAATATGTTTCTGAGTAGATTGTCTGGAGCTCTCTCCAGCTTCTCAAAGGGCCTGGCATCTGAGTTCAAGATAGCCCCACCTCAGGATGGGCATTTCATTTTCCCTGGAAGGTGGCTGAATGC 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CTCACCCCCATCTGTCCAGCCACACCCACAGACCGGGGAGCTCACTGTCACGGCCAGCGTCATCGTGACATCTTCTGCAGTCCTCATGTCTGCCTGACCTCTCCCCCTGGATGTGGACCACAAGTGTCTACACCGTGTGGACCACAAGTGTCTACACCGTGTAGACCACCCCGAATTCTGTGTGCCCAGCCTTCGTGGATCCAACTTTTACAAGCTTGAGGCTCTTTAGGGATGCACTAGTCTTAAATCCTTGTACGTGGCAGCATTGGCCAGTTCTTCGCAGCCAGGTCTTCCCTCTGCATCCCCAAGAGATGAGACCTTTGGACCTTAGAGTCTGCTAGGCAGATGCTTGTCCTGAGGCAGAGGCCCTGGGGTTTCTGTAAGATTTCTGGGAGCACTGGTGGGTCCTGAGAGTTCACAGAGCCTGTCACACCTCTCATGTGTTCTTCCCCACATCCCCGGGTGGGGCACTAACTCCATCTGACTGATGAGCGGCAGAACCTCAGGTGAAGGCTCTTGCTGCAAAACAATAAATAAAAATGTTGCTTCCCGCAGGCACTATTCTGTGCCTCATGGACAGGATCTCATCCAGTCATCAGTGAACCAATGATGTGAGCACGATTGTTAGCTATTTCTTGATAGGGAAACTGAGCTCCGAGAGAAGTGACTTGTCCATGGTCCCACAACAACTAGTAGATGGTGGGGCCAGACCTCAGACCCCCCGATACAGGACGCCTGGCTCAGGGCTTGCCAAGCAGTGTCCTGCAGCTTCAGGGGGCCAGTGCCTCAGAGGTGCCTGGTGCCTGGGCCACACTTGGGTGTTGAGCCTATACAGCACCCAAGGTGTTGAGCACTTGGGTGTTGAGGTGTTGCTGCCTTTCTTACCAAATGTTTTGGGGGAAGTGCTCCCCACGGCTGGGAGGAGCGCCTCAGTGAAGGGAGTACTGTGAAATGGGACAGGTGATGAGGCAGGGTGGCATCGCGCCTTGAGCAAGTCACATGGGTTCTCAGAGCCACCTCCAGATGCTGAAGTGGACGAGGCATCACCTATTCTTTGCAGTTGAGGAAAAGTTCATAGCTTTGTGTACCCACTGGGGCCTCCCAGGACTTCTTCCTCAGGGGCCTTGTGGGGCTGGAGCCAGCTCCTGGAAGAACCACCAACCCCGATGAGAAGCCAGGTGGGGATGCTCCACACCCAGGATGAGGCCGGGCCTGGGCCCATCACAGGACAGTTTCTCTGGTTCTTGTCACATCCTGGGGTCATGGTGGTATGGGTGTTTGGTTACTGTGCTACAAATGAGGAAACTGAGGCATGGGGCAGCATTCAAAGGCCCAAGACATATAGCAGGAAATATCAGAGCTATTCAAGAGCCCAGGCCACCTGTCTCCCAAGGCTCTGGCTCTTCTTGGCCACCCTGGAGACGGCCTGGATTAAATGGGGCTGCTCCTACCAGTTCCATCCTGGGAGAGTGGCTGGACGTGGTTGGGAGGCCCCGGGTCAGTGGGGCCATTTTTTGGTATTCTCGGCTGAGGGCTTCTAAATATAACATCTTGGATTATTTTTCAGATTATTCTGGAAAACTATGCGTACCCTGGTGTTCTTCTGATTGGCACTGACTCCCACACCCCCAATGGTGGCGGCCTTGGGGGCATCTGCATTGGAGTTGGGGGTGCCGATGCTGTGGATGTCATGGCTGGGATCCCCTGGGAGCTGAAGTGCCCCAAGGTGAGGGTGGGGAGGGACTCATTCTGGGCTGGCTGTGGGGTGGTGGTTGGTGGGGATGAACGGGAGACGGTGGGACCCAGGAGGGAAAAGGGAACAAGTTAGACTCGAATCTTCTGGGAGGGAGGTAGAGACCAATAAGCAGCAATGTGAATGGCAGCAGGGCCATCCTGACTTCGTGGCTGGCACAGGCACACACGGCCTCTCACAGCCGCCTCGCCCCCTCCTGTCCAGGTGATTGGCGTGAAGCTGACGGGCTCTCTCTCCGGTTGGTCCTCACCCAAAGATGTGATCCTGAAGGTGGCAGGCATCCTCACGGTGAAAGATGGCACAGGTGCAATCGTGGAATACCACGGGCCTGGTGTAGACTCCATCTCCTGCACTGGTGAGGAAGGCGGCCAGGCGACGTGGCCCCTACCCTGTGCTGGGCCTGATGGGTCTCCAGTTGGGAGTAGAAGCGGTGAATGGCCTTCACTTGAGAATCTGTCTGTTCCATTTGGGGACTTGGGATAGACAGAGGTAGAAGGAAAATTGGAGACAGCATTAGAGATTGTCTAGTCCACATCCTCATTAAACAGATGAAGAGATTGAGATACCTGTCGAGGCTGCCGGTGACTTCCTAACTGTGTGGCCACACACGGTTAGGAGCCAAGTCAGCTTCTGCTGCTGGGCCCAGGCCATAGCACTAGGCCACCTTGGGTGATCTAGACGAATCCAGAGAGGACAGAGGCAGTGGTGGGAATGGGCAGAGCCAGGGCTTCATTCATGAAGCAGCTGCAGGCCCACATCCTCCCTTCGCTGAAGTTCGAGCCTCACTCACTTCCCTTGGATTAGAGATCGGTGCCTGTCCGCCTCCAAGACCAGGTAGGAGCCAGCTGCTCCCTGCCTGTCACTCCTGGTGACCTGGCCTGGATGCCTGGTCCTCAGAAATCCAGGGAGATTTGTAACAGTCTAGACTTCCCAGGTGCCTGCCTGGGCTCCCTGGCAGCCCTGCAGAACTCTGGTTCCCCTGCAGTGATGGGGGCTCACTCCTGCCACGGGACTGCTCAGTCAGGACGTTGGTAACAGGCCCATACCTCCGTCCTAGTGGCTCCTGAGGCAGGTGGCCTGGTAGCAGCTGCAGTACCTGTGAGCCCCACCAGTTCTGTGACGCTTTGTGGTCCAGACAGTGTGTATCATTTCAGTTTTTGTTTTTGTTCTTGTTTTTTGAGACAGAGTCTAACTCTGTCGCCCAGGCTGGAATGCAGTGGTGCAATCTCGGCTCACTACAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCGGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCATGATGCCTGGCTAATTTTTTTTGTATTTTTTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCATCACTGGAAAACTTGAGACACAGAAAAGTGTCTCCACCATGGTATGGCTGAAGGAGGGCAGGCCACCAGGCAGACAGACCAAGATCCGAATGTCAGCATCTACCTTTATGTGCTTTATGGCATGACCTTGAATCTCTCTGAGCCAGTTCCTCCCCTGCCAAAAAGAATAGCAACTGGGCAGTGTCTGGTCAGGTCAGCCTACAGTACGTGGTGCCTGTTCAATCTCTTGGGCGACAGTCAGGCCCCAAGCTCGCAGCTCAGTGTGTGGGGGCTGAATCTTCACCTGAGTCCTCTTCATTCTACCCAGCAGCCACCCTGAGCTGGGGCCCTGAGCTCTGATCCCCATGGCCTCCCCTCACCGGCCCAGGTTTTTACCCAGGGCCTCAAGGGATGAGTCGGCCCGCTGTCACCACATCTCTCTGAGTGGGAGGAGAAGCAATGCAGCTCCCTGGTGTGAAGATGCAGGTGGCCGCGTAGCAGGTGTGTGGGACCCTGGCCCGGCCACCAGCCAATGCCCGGGGCTCTGTTGCTCCACAGGCATGGCGACAATCTGCAACATGGGTGCAGAAATTGGGGCCACCACTTCCGTGTTCCCTTACAACCACAGGATGAAGAAGTACCTGAGCAAGACCGGCCGGGAAGGTGAGCTGGCAGGGGCAGGCCCGTGTGGGTGGAACAGTCACATGCCCGCTCCTCCCCAAGACAGAGCTATGCCTTTCCCTGTAGGGCAGGGGTTCTTAACCCATTGTCTCCAGACAGGCGTCCGAGGCTCTGAGAAAGCCCTGAAGAGGTGCAATATGTTTCTGAGTAGATTGTCTGGAGCTCTCTCCAGCTTCTCAAAGGGCCTGGCATCTGAGTTCAAGATAGCCCCACCTCAGGATGGGCATTTCATTTTCCCTGGAAGGTGGCTGAATGC 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Task1_train_28862 | This genomic variant is located on Chromosome 22, within the ACO2 (aconitase 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Infantile cerebellar-retinal degeneration | GCTCCTCCCTTTCCTTATTGAGTGACTGCTTCTTCAAAACCCAGCTCTTCACTTCCAGGACACCCTCCCCGGCTCTGAACCTTAGCTGGCGCTCCTCCTCTGTGTCTCCGTGTCCCTGACAGCTCCTGCACTAGGGTGTGAGCTCTGTAAGGGCAGAGACAGCAGCCTTGGTTTCTTCATTGGCCTAGTCAGTGCCCAGGGTGGGCCTGGTGTTTGGCAGGTGCTCAGGTGGGTGGTGAGTGAACTCTCAAGAACAGTTTATGTTTCACGTGCTCCATCCCCGTCCCTTGTTGATTTCAGACATTGCCAATCTAGCTGATGAATTCAAGGATCACTTGGTGCCTGACCCTGGCTGCCATTATGACCAACTAATTGAAATTAACCTCAGTGAGGTGAGGAGACAATTAACTGGGTTCAAGAAGTTTCTGAGAGTAGTGGGGAGCAGGGCGGGTCCTGCCTAAATACTCACTGAGGGCCGGGTGGTGGCTCACAGCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGGTCAGTTGAGGTCAGCAGTTCAAGACCAGCCTGTCCAACATAGTGAAACCCCGTCTCTACTAAAAAAAAAAAAAAAAATACAAAAATTAGCTCGGCATAGTGCCATGTGCCTATAATCCCAGCTATTCAGGAGGCTGAGGCAAGATAATCGCTTGAACCCGGGACGCAGAGGTTGCAGTCAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGACACTGTCTCAAAAACAAAACAAGAAAAACCTCAGGGTGACTCGTGGGCCCCTGGGTCCCCAGTGTTCCTGCAAACTGCTTCCTGAAGCAGCCTGGAGCAGTGGGTGGGGAGGGGGGAGACACAGCCACGGGGAGAGCAGAGGTAGCTCTGGCTGCTGAACCAGAAGTGGATGTCAGTTTGCCACCAGCTCAGCTTTAGGAGAAGCCAAGGTTTCACCCTGAAGGGTTTTTGTTATCTGAGTTCAGAGGGCAAATCCCAGCAGGGTTAGGCACCCTGAGACGCACAGATCAGAGCAGGTGTTTGCAGAGCCAGAGGAAGGGCAGGCTAGAGGATCCCGTCTGCAGGAGTTCACACCTCGGCTCTGCCACTTAAGTTGTGTGGCCTTGGTCACGCACTTAGCCTCTGTAGGCCCCTTGCTCCATCACGTGTGGAACCTACAGCAGTCGTGAGGATTGAATGAATTCATGTAACTAACACTGACGGAGGTTTACTGCATGCTGCGCACATAGCTGAGTGCCTCGCATTTACTGATGATTATGATATGTAAAGCGTCTGGCCTTAAGTCCATTTTTGTCATGATTCCAAAAGCGGCCGGGCATGGTGGCTGACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGATTGAGACCATCCTGGCTAATGTGATGAAACCCCGTCTCTACTAAAAAAATACAAAAAAATTAGCCAGACGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGTGTGAACCCGAGAGGCGGAGGCTGCCGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAGCAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAGATTCCAAAAGCAACATCGAATGGGAGATAATGAACTTAGGAAGCTGACAGCCTTGATCCATTCCATGCCTCTGCTGTCTCCTAGCTATGTGACTTCAAGCACAGCATGTCACTTCTGAGCTTCAGTTCCTTCATCTGCAGAGCTGAGCCCAGCCTTGCAGGGCTGGAGGGAGCCCGGGAGCGGGTGTGTGCAGAGCCAACTGCTCAGTTCTTCCCTGTGATGAGGTTTCAGTCAAGAGAAAGTCGTTGGCCTCTCTGTGGGGACGTGGTGAGGCAGTGAAAGAGGCTGTCCCCGCTTCAAGGTTTCTTCCCTCCTCTCTTTCTTCTCCTTGCATGTTTGTTTCTTCAGCTGAAGCCACACATCAATGGGCCCTTCACCCCTGACCTGGCTCACCCTGTGGCAGAAGTGGGCAAGGTGGCAGAGAAGGAAGGATGGCCTCTGGACATCCGAGTGGGTGAGCACCTTCCACCCCATCTGTTTAGCAGGTCTCAGGGCCAGTGGCTCTGCCCAGGGCTGTAGACAATCACCTATGCCTACTGTGTGGCACTTTCTAAGGTGGGCAGTTTCTGAAATGGGTTTATTATTGAAAAATTACTTTTTCGGCCAGAAGTGGTGGCTCATGCTTGAAATCCCAGCATTTCAGGAGGCCAATGCAGGTGGATTACTTGAGTCTAGGGGTTCAAGACCAGCCTGGGCAACATGGAAAAACCCCGTCTCTTAAAAGAAAATGCAAAAATTGGCCAGGGGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGGGTGGTGGCAGGCACCTGTAGCCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAATGAACCGAGATTGTGTCACTGCACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAGAAAAAAAAAAAAAAATTGGCCAGGTGTGGAGGCGCATGCCTATAGTCCTAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGTCCTGGAGGTCAAGGCTACAGTGAGCCGAGATGGTACCACTGCATTCCAGCCTGGGCAACAAAGGCAGACTCAAAACTGCAGACTCAAGCAACAGAGCCTGCCTCCAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAGAAAAATTACTTTTTCTTGGCAGAAAAGAAAAATATGTTTATTGTAGAGAATATTCACAATCAAGAAGAATTTTTAAAACTCCTAATCTCAACCCCCAGCCAGGAGCAAGCTCTTAGAGCTCTTGGAGAGGTGTGCTGTGTTTCTGTGTATTGTGTGCATAGATTTTCCCGTTTTACATTTTATATCACCCATGCTGCTTTATGTGACTTTTCATGCTTTACACATGCAGACGCCCTGGCATGCCAGTCACTGGCATCTGCTGCTGCTGGGTACAGTGTGGCTGTGAAGAGCATGGAGCCTGGAGCCAGATGGCCTGGGCTTGAATCCTGGCTCTGCCACCTAACAGCCACTAACAGCTGAGTGACCCTGAGCAAACTACTTCACTGTCTATGTGTGGGTTCCCCATCTGTAAAACAGGAGTCATGATCGTACTGACACCTTTGAAGGTGGTGTTGGGCCTACTGCTGCTATCACCAATGAGAAAAATAAATAAAAAATAAAGTTGTCTGGAGAAGTGACAATATGTGAAAAGAGATTTCTATACCGTCTGGCCGAAAATAAGGGCAATATAATGTGTTCGCCCTTATTCATTGAAGTAATTTTAAGAAAAAAAATATTTGGTGGTTTAATAATTAGAAAGTAAATTACTAAATTAATAAAAGAAACTATCTTGGCTGGTTATATGGGCTTTTGCCAGTAATCCCAACCCTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGCAGTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGGTTTCACTGTGTTAGCCAGGCTAGTCTGGAACTCCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCTCAAAGTTGTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCAGTCCCAACACTTTGAGAGGCTGAGGCAGGAGGATCATTTGATCCCAGGAGTTCAAGAGCAGCCTGGGCAACATGGTGAGACTTTGTCTCTACAAAAACAATTTATTGAATTAGCCAGGTGTGGTGGTACTCACCTGTGGGTCCCAGCTACTCAGGAAGTTGAGGCAGGAGGAGTTGCTTGAGCCCCAGGAGTTAGAGACTGCA 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GCTCCTCCCTTTCCTTATTGAGTGACTGCTTCTTCAAAACCCAGCTCTTCACTTCCAGGACACCCTCCCCGGCTCTGAACCTTAGCTGGCGCTCCTCCTCTGTGTCTCCGTGTCCCTGACAGCTCCTGCACTAGGGTGTGAGCTCTGTAAGGGCAGAGACAGCAGCCTTGGTTTCTTCATTGGCCTAGTCAGTGCCCAGGGTGGGCCTGGTGTTTGGCAGGTGCTCAGGTGGGTGGTGAGTGAACTCTCAAGAACAGTTTATGTTTCACGTGCTCCATCCCCGTCCCTTGTTGATTTCAGACATTGCCAATCTAGCTGATGAATTCAAGGATCACTTGGTGCCTGACCCTGGCTGCCATTATGACCAACTAATTGAAATTAACCTCAGTGAGGTGAGGAGACAATTAACTGGGTTCAAGAAGTTTCTGAGAGTAGTGGGGAGCAGGGCGGGTCCTGCCTAAATACTCACTGAGGGCCGGGTGGTGGCTCACAGCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGGTCAGTTGAGGTCAGCAGTTCAAGACCAGCCTGTCCAACATAGTGAAACCCCGTCTCTACTAAAAAAAAAAAAAAAAATACAAAAATTAGCTCGGCATAGTGCCATGTGCCTATAATCCCAGCTATTCAGGAGGCTGAGGCAAGATAATCGCTTGAACCCGGGACGCAGAGGTTGCAGTCAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGACACTGTCTCAAAAACAAAACAAGAAAAACCTCAGGGTGACTCGTGGGCCCCTGGGTCCCCAGTGTTCCTGCAAACTGCTTCCTGAAGCAGCCTGGAGCAGTGGGTGGGGAGGGGGGAGACACAGCCACGGGGAGAGCAGAGGTAGCTCTGGCTGCTGAACCAGAAGTGGATGTCAGTTTGCCACCAGCTCAGCTTTAGGAGAAGCCAAGGTTTCACCCTGAAGGGTTTTTGTTATCTGAGTTCAGAGGGCAAATCCCAGCAGGGTTAGGCACCCTGAGACGCACAGATCAGAGCAGGTGTTTGCAGAGCCAGAGGAAGGGCAGGCTAGAGGATCCCGTCTGCAGGAGTTCACACCTCGGCTCTGCCACTTAAGTTGTGTGGCCTTGGTCACGCACTTAGCCTCTGTAGGCCCCTTGCTCCATCACGTGTGGAACCTACAGCAGTCGTGAGGATTGAATGAATTCATGTAACTAACACTGACGGAGGTTTACTGCATGCTGCGCACATAGCTGAGTGCCTCGCATTTACTGATGATTATGATATGTAAAGCGTCTGGCCTTAAGTCCATTTTTGTCATGATTCCAAAAGCGGCCGGGCATGGTGGCTGACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGATTGAGACCATCCTGGCTAATGTGATGAAACCCCGTCTCTACTAAAAAAATACAAAAAAATTAGCCAGACGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGTGTGAACCCGAGAGGCGGAGGCTGCCGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAGCAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAGATTCCAAAAGCAACATCGAATGGGAGATAATGAACTTAGGAAGCTGACAGCCTTGATCCATTCCATGCCTCTGCTGTCTCCTAGCTATGTGACTTCAAGCACAGCATGTCACTTCTGAGCTTCAGTTCCTTCATCTGCAGAGCTGAGCCCAGCCTTGCAGGGCTGGAGGGAGCCCGGGAGCGGGTGTGTGCAGAGCCAACTGCTCAGTTCTTCCCTGTGATGAGGTTTCAGTCAAGAGAAAGTCGTTGGCCTCTCTGTGGGGACGTGGTGAGGCAGTGAAAGAGGCTGTCCCCGCTTCAAGGTTTCTTCCCTCCTCTCTTTCTTCTCCTTGCATGTTTGTTTCTTCAGCTGAAGCCACACATCAATGGGCCCTTCACCCCTGACCTGGCTCACCCTGTGGCAGAAGCGGGCAAGGTGGCAGAGAAGGAAGGATGGCCTCTGGACATCCGAGTGGGTGAGCACCTTCCACCCCATCTGTTTAGCAGGTCTCAGGGCCAGTGGCTCTGCCCAGGGCTGTAGACAATCACCTATGCCTACTGTGTGGCACTTTCTAAGGTGGGCAGTTTCTGAAATGGGTTTATTATTGAAAAATTACTTTTTCGGCCAGAAGTGGTGGCTCATGCTTGAAATCCCAGCATTTCAGGAGGCCAATGCAGGTGGATTACTTGAGTCTAGGGGTTCAAGACCAGCCTGGGCAACATGGAAAAACCCCGTCTCTTAAAAGAAAATGCAAAAATTGGCCAGGGGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGGGTGGTGGCAGGCACCTGTAGCCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAATGAACCGAGATTGTGTCACTGCACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAGAAAAAAAAAAAAAAATTGGCCAGGTGTGGAGGCGCATGCCTATAGTCCTAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGTCCTGGAGGTCAAGGCTACAGTGAGCCGAGATGGTACCACTGCATTCCAGCCTGGGCAACAAAGGCAGACTCAAAACTGCAGACTCAAGCAACAGAGCCTGCCTCCAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAGAAAAATTACTTTTTCTTGGCAGAAAAGAAAAATATGTTTATTGTAGAGAATATTCACAATCAAGAAGAATTTTTAAAACTCCTAATCTCAACCCCCAGCCAGGAGCAAGCTCTTAGAGCTCTTGGAGAGGTGTGCTGTGTTTCTGTGTATTGTGTGCATAGATTTTCCCGTTTTACATTTTATATCACCCATGCTGCTTTATGTGACTTTTCATGCTTTACACATGCAGACGCCCTGGCATGCCAGTCACTGGCATCTGCTGCTGCTGGGTACAGTGTGGCTGTGAAGAGCATGGAGCCTGGAGCCAGATGGCCTGGGCTTGAATCCTGGCTCTGCCACCTAACAGCCACTAACAGCTGAGTGACCCTGAGCAAACTACTTCACTGTCTATGTGTGGGTTCCCCATCTGTAAAACAGGAGTCATGATCGTACTGACACCTTTGAAGGTGGTGTTGGGCCTACTGCTGCTATCACCAATGAGAAAAATAAATAAAAAATAAAGTTGTCTGGAGAAGTGACAATATGTGAAAAGAGATTTCTATACCGTCTGGCCGAAAATAAGGGCAATATAATGTGTTCGCCCTTATTCATTGAAGTAATTTTAAGAAAAAAAATATTTGGTGGTTTAATAATTAGAAAGTAAATTACTAAATTAATAAAAGAAACTATCTTGGCTGGTTATATGGGCTTTTGCCAGTAATCCCAACCCTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGCAGTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGGTTTCACTGTGTTAGCCAGGCTAGTCTGGAACTCCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCTCAAAGTTGTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCAGTCCCAACACTTTGAGAGGCTGAGGCAGGAGGATCATTTGATCCCAGGAGTTCAAGAGCAGCCTGGGCAACATGGTGAGACTTTGTCTCTACAAAAACAATTTATTGAATTAGCCAGGTGTGGTGGTACTCACCTGTGGGTCCCAGCTACTCAGGAAGTTGAGGCAGGAGGAGTTGCTTGAGCCCCAGGAGTTAGAGACTGCA 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Task1_train_28863 | This alteration in ACO2 (aconitase 2) on Chromosome 22 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Infantile cerebellar-retinal degeneration | CTATAGTCCTAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGTCCTGGAGGTCAAGGCTACAGTGAGCCGAGATGGTACCACTGCATTCCAGCCTGGGCAACAAAGGCAGACTCAAAACTGCAGACTCAAGCAACAGAGCCTGCCTCCAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAGAAAAATTACTTTTTCTTGGCAGAAAAGAAAAATATGTTTATTGTAGAGAATATTCACAATCAAGAAGAATTTTTAAAACTCCTAATCTCAACCCCCAGCCAGGAGCAAGCTCTTAGAGCTCTTGGAGAGGTGTGCTGTGTTTCTGTGTATTGTGTGCATAGATTTTCCCGTTTTACATTTTATATCACCCATGCTGCTTTATGTGACTTTTCATGCTTTACACATGCAGACGCCCTGGCATGCCAGTCACTGGCATCTGCTGCTGCTGGGTACAGTGTGGCTGTGAAGAGCATGGAGCCTGGAGCCAGATGGCCTGGGCTTGAATCCTGGCTCTGCCACCTAACAGCCACTAACAGCTGAGTGACCCTGAGCAAACTACTTCACTGTCTATGTGTGGGTTCCCCATCTGTAAAACAGGAGTCATGATCGTACTGACACCTTTGAAGGTGGTGTTGGGCCTACTGCTGCTATCACCAATGAGAAAAATAAATAAAAAATAAAGTTGTCTGGAGAAGTGACAATATGTGAAAAGAGATTTCTATACCGTCTGGCCGAAAATAAGGGCAATATAATGTGTTCGCCCTTATTCATTGAAGTAATTTTAAGAAAAAAAATATTTGGTGGTTTAATAATTAGAAAGTAAATTACTAAATTAATAAAAGAAACTATCTTGGCTGGTTATATGGGCTTTTGCCAGTAATCCCAACCCTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGCAGTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGGTTTCACTGTGTTAGCCAGGCTAGTCTGGAACTCCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCTCAAAGTTGTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCAGTCCCAACACTTTGAGAGGCTGAGGCAGGAGGATCATTTGATCCCAGGAGTTCAAGAGCAGCCTGGGCAACATGGTGAGACTTTGTCTCTACAAAAACAATTTATTGAATTAGCCAGGTGTGGTGGTACTCACCTGTGGGTCCCAGCTACTCAGGAAGTTGAGGCAGGAGGAGTTGCTTGAGCCCCAGGAGTTAGAGACTGCAGTGAGCAAGCCTCGACTGTGCCCTTGCACTCCAGCCTGGGCGACAGAGCAAGACCCCATCTCAACAACAACAAAAAGAGACTGTCTAGACAGAAAGTGCGATGTTATTCAGGTTTTATAGACTTTTTAAAAAGAACTCTTATTGCCCTGATTATAAAACAATCTTTAAAACCCAGAAAATACTAGAAAGTATAAAAGAAGAAAATTAGCATCTCCTGTCAGCCCCAGCCCATCAAGGATGGCTGTTCGTATGAGCCCTCTGACGTGCCTACACGTGTACATGATATTGCTGTAAAAGGGGTCATAGTCCTAATGTGTTCAGCATCATGGCCAATGGCTACAGCATCTTTCTTCAAATGACGCCACGTCATGAGTTAGCCTGTCCTTTATTGTTGGATATTTCGGTTGCTTGCAACTGGTCTCTGTTAAAAAAGTCTCTGGCCCAGCCCAGATGGTGAACTCTTTTGGCCAAGTCTGGATAATTTGAAGTCAGGTGGAGACCTCTGCTCACTGTCTCCTCCTGACCCTTAACCCCACCACCCACAATGCACCAGGTCTAATTGGTAGCTGCACCAATTCAAGCTATGAAGATATGGGGCGCTCAGCAGCTGTGGCCAAGCAGGCACTGGCCCATGGCCTCAAGTGCAAGTCCCAGTTCACCATCACTCCAGGTTCCGAGCAGATCCGCGCCACCATTGAGCGGGACGGCTATGTGAGTGCCCATATCCCCCTGCCCATCTCCCCCACCCCATGCTGAGTAATGCCTCCAGGCGGCACAAGCCCAGAGGCCTGTTGGGCCGGGGCTGGGGCAGGTCCCAGTGGCTGCCCTGGGGTTCCAGTACAGCACTTCGTCCTGCAGCCACCACATCACCCCTTCCCATCAGACTCTCACCCACCCTTGACATTCTGTCTTCCTCTCTCCCTGGCAGGCACAGATCTTGAGGGATCTGGGTGGCATTGTCCTGGCCAATGCTTGTGGCCCCTGCATTGGCCAGTGGGACAGGTAAGAGGCGTATCTTTTGACAAGACAGCCCCTTGTGCACAGGGTACAGAGCCCCAGAAGTTGGAGGGGGAATTATTGGGGTGGAGAGAAGAGACTCCAGCCAAGGTCTCTAGCTCCAGGGACTCTTGCCCATTAGAAGCCTCTGGCAGACATGCCTGGGAAGAGGGGCTGGGTGAGGAAGGGCCCTGCAGAGGCACTGGGGGGCAACTTGGCTGAAGCCTGGGCTGGCAGGAGGAAGCCAGCGCGGCCTCACCCTGACGGACACAGCAGGAGCCGTTTGGGAGGAGGCAGTGCCCCAGGTCAGGAAACTCAGGCCTTGACCAAGGCCTTGCCTCTGGCTTACGTGTGGTTGCAGGCTGGGCCCAGTGATCCTGAGGTTCCCTTCTGCTCTGCGCGTGGCCCCAGGAGGAGGCAACCCTGGCAGGGCCTCTTCATTTTCCCTCGGTAGGAGCTAGGCTGGGCTGCGCCACAGGAACCCAGCTTATCTGTCCTCGGGACAGGCCAGGTGACAAGGCCAGATATCCCTAACCCTGATCCCTCTGACCTGGCAGGAAGGACATCAAGAAGGGGGAGAAGAACACAATCGTCACCTCCTACAACAGGAACTTCACGGGCCGCAACGACGCAAACCCCGAGACCCATGCCTTTGTCACGTCCCCAGAGGTGAGACTGCCCAGCTGCGCACAAGCCTGGGATGGCCTCTGGGGGTCCCTGGCGGGTCAGAGGAGGAGGCAGAAGGAGATGGGGACTGGGGTCATCCAAGTGGTAGCCAGGAGCTACAGGCCTTCCCAGCCTCAGGCGCATGCTTGGTGCTTCCTGCCTGGGGCTCCCTGGGTCATGGGATTATGAGATATTTATACAGTGGTTTGTGCTTATGAGCATGGAATTTGGAATCTCACTCACTGCCTAGGACACATCCCAGCCCTGCCTCTAACTCGCTGTATGAGTGTGGCCAAGTCACTTACCTTCTCTGTGTCCCCGTAATCCTCGGGATTACCTGGGAAAGTGCGTGGGACACATGCAGTTTCCAACCCCAGGTAGGAGTTCCACAAAAGCGAGGCCTTTGCCATTGTTCCCGTGGCCAGAGTGAGCCTTGCCCTTGGCGGTATTCAGCCCTGGCCGTGACTGGCACATGGCCAGGCTCTCTTGACTTGGTTGTTTATCTGCGTGTTCTACAAATATGTCTTGCTAAATGGGTGAAGGAATGGCTCCTTCCATGTTTTTAGTGTCCTGCGCACTGAGCAGGTTTGCATCATACCAGCATTTCTGCGCCAGGGCCCCCACTCCCTCCAGGATAGCTGTGAGGAGAGAGAACAGCACTGCCGGCCCGGCCCTGCAGGGATGGGAGAGGCCGCACTGCCCTTGGCTTCCTGAGTCCTCTGCAGGCCCAAGGCCCCGTGGTCCCAAAGATCGTCCTGCAGCTCTGGCCTCTGAGGAACACAGGGGTCTGGGAAGAACATGGAAATTTCCTGGGTTCCTTTCTCAGTTTTGGCCTAGGCTTTTGGTAGGTGCAGGAGACAGGAGTGGCAATTGGTGCTGACCAACAAACTGGCCACCTCCATTTCAGATTGTCACAGCCCTGGCCATTGCGGGAACCCTCAAGTTCAACCCAGAGACCGACTACCTGACGGGCACGGATGGCAAGAAGTTCAGGCTGGAGGCTCCGGATGCAGATGAGCTTCCCAAAGGGGTGAGCGCCC 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CTATAGTCCTAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGTCCTGGAGGTCAAGGCTACAGTGAGCCGAGATGGTACCACTGCATTCCAGCCTGGGCAACAAAGGCAGACTCAAAACTGCAGACTCAAGCAACAGAGCCTGCCTCCAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAGAAAAATTACTTTTTCTTGGCAGAAAAGAAAAATATGTTTATTGTAGAGAATATTCACAATCAAGAAGAATTTTTAAAACTCCTAATCTCAACCCCCAGCCAGGAGCAAGCTCTTAGAGCTCTTGGAGAGGTGTGCTGTGTTTCTGTGTATTGTGTGCATAGATTTTCCCGTTTTACATTTTATATCACCCATGCTGCTTTATGTGACTTTTCATGCTTTACACATGCAGACGCCCTGGCATGCCAGTCACTGGCATCTGCTGCTGCTGGGTACAGTGTGGCTGTGAAGAGCATGGAGCCTGGAGCCAGATGGCCTGGGCTTGAATCCTGGCTCTGCCACCTAACAGCCACTAACAGCTGAGTGACCCTGAGCAAACTACTTCACTGTCTATGTGTGGGTTCCCCATCTGTAAAACAGGAGTCATGATCGTACTGACACCTTTGAAGGTGGTGTTGGGCCTACTGCTGCTATCACCAATGAGAAAAATAAATAAAAAATAAAGTTGTCTGGAGAAGTGACAATATGTGAAAAGAGATTTCTATACCGTCTGGCCGAAAATAAGGGCAATATAATGTGTTCGCCCTTATTCATTGAAGTAATTTTAAGAAAAAAAATATTTGGTGGTTTAATAATTAGAAAGTAAATTACTAAATTAATAAAAGAAACTATCTTGGCTGGTTATATGGGCTTTTGCCAGTAATCCCAACCCTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGCAGTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGGTTTCACTGTGTTAGCCAGGCTAGTCTGGAACTCCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCTCAAAGTTGTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCAGTCCCAACACTTTGAGAGGCTGAGGCAGGAGGATCATTTGATCCCAGGAGTTCAAGAGCAGCCTGGGCAACATGGTGAGACTTTGTCTCTACAAAAACAATTTATTGAATTAGCCAGGTGTGGTGGTACTCACCTGTGGGTCCCAGCTACTCAGGAAGTTGAGGCAGGAGGAGTTGCTTGAGCCCCAGGAGTTAGAGACTGCAGTGAGCAAGCCTCGACTGTGCCCTTGCACTCCAGCCTGGGCGACAGAGCAAGACCCCATCTCAACAACAACAAAAAGAGACTGTCTAGACAGAAAGTGCGATGTTATTCAGGTTTTATAGACTTTTTAAAAAGAACTCTTATTGCCCTGATTATAAAACAATCTTTAAAACCCAGAAAATACTAGAAAGTATAAAAGAAGAAAATTAGCATCTCCTGTCAGCCCCAGCCCATCAAGGATGGCTGTTCGTATGAGCCCTCTGACGTGCCTACACGTGTACATGATATTGCTGTAAAAGGGGTCATAGTCCTAATGTGTTCAGCATCATGGCCAATGGCTACAGCATCTTTCTTCAAATGACGCCACGTCATGAGTTAGCCTGTCCTTTATTGTTGGATATTTCGGTTGCTTGCAACTGGTCTCTGTTAAAAAAGTCTCTGGCCCAGCCCAGATGGTGAACTCTTTTGGCCAAGTCTGGATAATTTGAAGTCAGGTGGAGACCTCTGCTCACTGTCTCCTCCTGACCCTTAACCCCACCACCCACAATGCACCAGGTCTAATTGGTAGCTGCACCAATTCAAGCTATGAAGATATGGGGCGCTCAGCAGCTGTGGCCAAGCAGGCACTGGCCCATGGCCTCAAGTGCAAGTCCCAGGTCACCATCACTCCAGGTTCCGAGCAGATCCGCGCCACCATTGAGCGGGACGGCTATGTGAGTGCCCATATCCCCCTGCCCATCTCCCCCACCCCATGCTGAGTAATGCCTCCAGGCGGCACAAGCCCAGAGGCCTGTTGGGCCGGGGCTGGGGCAGGTCCCAGTGGCTGCCCTGGGGTTCCAGTACAGCACTTCGTCCTGCAGCCACCACATCACCCCTTCCCATCAGACTCTCACCCACCCTTGACATTCTGTCTTCCTCTCTCCCTGGCAGGCACAGATCTTGAGGGATCTGGGTGGCATTGTCCTGGCCAATGCTTGTGGCCCCTGCATTGGCCAGTGGGACAGGTAAGAGGCGTATCTTTTGACAAGACAGCCCCTTGTGCACAGGGTACAGAGCCCCAGAAGTTGGAGGGGGAATTATTGGGGTGGAGAGAAGAGACTCCAGCCAAGGTCTCTAGCTCCAGGGACTCTTGCCCATTAGAAGCCTCTGGCAGACATGCCTGGGAAGAGGGGCTGGGTGAGGAAGGGCCCTGCAGAGGCACTGGGGGGCAACTTGGCTGAAGCCTGGGCTGGCAGGAGGAAGCCAGCGCGGCCTCACCCTGACGGACACAGCAGGAGCCGTTTGGGAGGAGGCAGTGCCCCAGGTCAGGAAACTCAGGCCTTGACCAAGGCCTTGCCTCTGGCTTACGTGTGGTTGCAGGCTGGGCCCAGTGATCCTGAGGTTCCCTTCTGCTCTGCGCGTGGCCCCAGGAGGAGGCAACCCTGGCAGGGCCTCTTCATTTTCCCTCGGTAGGAGCTAGGCTGGGCTGCGCCACAGGAACCCAGCTTATCTGTCCTCGGGACAGGCCAGGTGACAAGGCCAGATATCCCTAACCCTGATCCCTCTGACCTGGCAGGAAGGACATCAAGAAGGGGGAGAAGAACACAATCGTCACCTCCTACAACAGGAACTTCACGGGCCGCAACGACGCAAACCCCGAGACCCATGCCTTTGTCACGTCCCCAGAGGTGAGACTGCCCAGCTGCGCACAAGCCTGGGATGGCCTCTGGGGGTCCCTGGCGGGTCAGAGGAGGAGGCAGAAGGAGATGGGGACTGGGGTCATCCAAGTGGTAGCCAGGAGCTACAGGCCTTCCCAGCCTCAGGCGCATGCTTGGTGCTTCCTGCCTGGGGCTCCCTGGGTCATGGGATTATGAGATATTTATACAGTGGTTTGTGCTTATGAGCATGGAATTTGGAATCTCACTCACTGCCTAGGACACATCCCAGCCCTGCCTCTAACTCGCTGTATGAGTGTGGCCAAGTCACTTACCTTCTCTGTGTCCCCGTAATCCTCGGGATTACCTGGGAAAGTGCGTGGGACACATGCAGTTTCCAACCCCAGGTAGGAGTTCCACAAAAGCGAGGCCTTTGCCATTGTTCCCGTGGCCAGAGTGAGCCTTGCCCTTGGCGGTATTCAGCCCTGGCCGTGACTGGCACATGGCCAGGCTCTCTTGACTTGGTTGTTTATCTGCGTGTTCTACAAATATGTCTTGCTAAATGGGTGAAGGAATGGCTCCTTCCATGTTTTTAGTGTCCTGCGCACTGAGCAGGTTTGCATCATACCAGCATTTCTGCGCCAGGGCCCCCACTCCCTCCAGGATAGCTGTGAGGAGAGAGAACAGCACTGCCGGCCCGGCCCTGCAGGGATGGGAGAGGCCGCACTGCCCTTGGCTTCCTGAGTCCTCTGCAGGCCCAAGGCCCCGTGGTCCCAAAGATCGTCCTGCAGCTCTGGCCTCTGAGGAACACAGGGGTCTGGGAAGAACATGGAAATTTCCTGGGTTCCTTTCTCAGTTTTGGCCTAGGCTTTTGGTAGGTGCAGGAGACAGGAGTGGCAATTGGTGCTGACCAACAAACTGGCCACCTCCATTTCAGATTGTCACAGCCCTGGCCATTGCGGGAACCCTCAAGTTCAACCCAGAGACCGACTACCTGACGGGCACGGATGGCAAGAAGTTCAGGCTGGAGGCTCCGGATGCAGATGAGCTTCCCAAAGGGGTGAGCGCCC 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Task1_train_28864 | A variant has been detected on Chromosome 22 in ACO2, POLR3H (aconitase 2| RNA polymerase III subunit H). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Infantile cerebellar-retinal degeneration | CTTACCTTCTCTGTGTCCCCGTAATCCTCGGGATTACCTGGGAAAGTGCGTGGGACACATGCAGTTTCCAACCCCAGGTAGGAGTTCCACAAAAGCGAGGCCTTTGCCATTGTTCCCGTGGCCAGAGTGAGCCTTGCCCTTGGCGGTATTCAGCCCTGGCCGTGACTGGCACATGGCCAGGCTCTCTTGACTTGGTTGTTTATCTGCGTGTTCTACAAATATGTCTTGCTAAATGGGTGAAGGAATGGCTCCTTCCATGTTTTTAGTGTCCTGCGCACTGAGCAGGTTTGCATCATACCAGCATTTCTGCGCCAGGGCCCCCACTCCCTCCAGGATAGCTGTGAGGAGAGAGAACAGCACTGCCGGCCCGGCCCTGCAGGGATGGGAGAGGCCGCACTGCCCTTGGCTTCCTGAGTCCTCTGCAGGCCCAAGGCCCCGTGGTCCCAAAGATCGTCCTGCAGCTCTGGCCTCTGAGGAACACAGGGGTCTGGGAAGAACATGGAAATTTCCTGGGTTCCTTTCTCAGTTTTGGCCTAGGCTTTTGGTAGGTGCAGGAGACAGGAGTGGCAATTGGTGCTGACCAACAAACTGGCCACCTCCATTTCAGATTGTCACAGCCCTGGCCATTGCGGGAACCCTCAAGTTCAACCCAGAGACCGACTACCTGACGGGCACGGATGGCAAGAAGTTCAGGCTGGAGGCTCCGGATGCAGATGAGCTTCCCAAAGGGGTGAGCGCCCACGCCCCCTGCTTGCTGGTTGCTGTGTGGCCACGTCACTTCCTTCTCAACCTCACAGCACCTCCTGTGCAGGCAGGGAGGGCGCTGCTAGTGAGAAGGAAGCAGCTCTGTTCCCTGGGAGGGGAGGTGGGGCCCGAGGAAACTTGCCTTCTGAGAGTCTGTCCTTGTGGGAACTGAGGACTCAGCACCCCACGCATCCCCATTCCCTGCTGCAGGAGTTTGACCCAGGGCAGGACACCTACCAGCACCCACCCAAGGACAGCAGCGGGCAGCATGTGGACGTGAGCCCCACCAGCCAGCGCCTGCAGCTCCTGGAGCCTTTTGACAAGTGGGATGGCAAGGACCTGGAGGACCTGCAGATCCTCATCAAGGTCAGCAGCATGGGGACGGCAGGACAGCCCCACCCTGCCAGGGCCCCCCGTCCCCTGAGCATCGGGAAGGGCCATGAACCTGGAGGAAGTGAGCACAGTCAAGACGCAGGTGGGAGATGGAAGGGAGGTTTGGCTGCAGAGCAGAGAGGGTATCGCAACGCAGTCCAGCGTCCCCCTTCTCTGTGGCCCCGAACTGGGCAGAGCTAGATCTGGCCAGCCTCCGTCTGGGGCCCTCAGCCATCCAGCAGCAGCTGATCAGAGCCACCTCCAGTGGGTGTGGGCAGGTGAGTACAGCTCAGGCTGGGCTGGGACAGTGTGTGTGATTGCACAGCAGGCTCCACACCTGGCACGTCCACACAGGCTCTGGAAGCCATGGACAACTCCTGCCCCCACAGTTGGGCACCCGTGGATATGGGATGGCTTGTGTTTGGCACCGACCAAAAACAAGCCTTTTTGGTGTGGCCAGAGGCCTCCAATCTGTGTCAGATATTTATTTATGCTGCTTATTAAGGGGTCTCCAGGCACCCCTGTGACAGAAGAGACTAATCAGTCATCAGCCAGGACCCAGGCATGTCCTGGGCTCCTGTGTCCAGCATGAGGTCTGTGGCTGATCTTGCAGCTGAGGCCTGAAGGGTGAGCGAACATTGACCTGTCCCAACTTTGGGCGGCCTCTGCCCCATAAGGGAGACTGAGCAGCCAGAGGCCTTTGAGGGGATGAAGGCCTGGCCTGAGCCCATGTGGCCTTAGGGTGGAAGCACCAGGACCACAGAACACGTGTCTGAAGACTTGCCTGCCTCTCACCCCTCTGTCACCCCTCCTGGGCCCCGGGGCCTGCTGCCTGCCTCTGGAGGGCTTGTCATCCACCCCTCCAGGGCCATGCCCTGACCTCTGTCCTCTCTACTTACCACCCAAGGTCAAAGGGAAGTGTACCACTGACCACATCTCAGCTGCTGGCCCCTGGCTCAAGTTCCGTGGGCACTTGGATAACATCTCCAACAACCTGCTCATTGGTGCCATCAACATTGAAAACGGCAAGGCCAACTCCGTGCGCAATGCCGTCACTCAGGAGTTTGGCCCCGTCCCTGACACTGCCCGCTACTACAAGGTGGGTCAGAGTTGATAGGGGCAATGCCAGTGGTCACTCCTGAAGGGGCCTGCAAGGCAGGTGCAGGGAGGACATTAGGGGAGTGGAAACTGGGAAGGAGGCCGACCAAGCCCAAAGGGGACTGCTGTGGAAGGGAGGAGAGGCCTGCAGCCCCTCCCTGTGGCTGAGAAGGCATGAGGCCCAGGTCCGGTGGTACAGCCGGGTCCCTGCACCAGGAGGAGTTAGTGAGAGATATCTTAGGATATCTGGCCCTAGACAAAGACAAGGAAGGGGGCCGACTCAGGAAGTCAGAGGCCAAAAGCTCAGAGAGGGGGCTACACGGGGCCTCACAGTGAGCAGGCAGAGAGGGTCTGAGGTGATTGGACTTTTTCTGCTTTGAGAAACAAACAGAACCAGGGCTGAACCCAAGTCCTGGCCCAGCCGGGTGAAAGGACTCTGGCACCCCCTGGTGGCTGGGTGGGGCAGAGGGTGCTCCCAGGAAGGGGGCGCCTTGAGCTTCACAGATGCATCTTGTGTGGGGCCCGGAGGCCGTCCCTGTCTCACCCAACCTCCCTCCACACACACCTGCCTCTGCCAAGCACCAATGGGTGGCTTCTGTCTTCTTTGCCACTGCAAACAACCACGTGCCTCTGTCCCCTCGGGGCCTCGTTTGGGTCTCATTCACGCAGGCTTCACTTGCCCTTAGGCAGCAGGCGAGGAAGGGCCCCTCCAGCCCCTTTACCGGGAGCCTCAGGATGCCCAGGCGCCAGGTGGGTGAGGCCAGGCAGGTAGGGCCAGACAGGTGAGGACGGTGCCCTCCTCTGCCTTATAACCTTACCCCCGCTTGCCTGACAGAAACATGGCATCAGGTGGGTGGTGATCGGAGACGAGAACTACGGCGAGGGCTCGAGCCGGGAGCATGCAGCTCTGGAGCCTCGCCACCTTGGGGGCCGGGCCATCATCACCAAGAGCTTTGCCAGGATCCACGGTGAGCTGGAGTCTGTACCCAGGCCATCCTCATCCCATCCCTAGTGATCAAGGTCACTCTCCCTGCCCGTGGCTGAGTTGGGCCTGGTTCTAGGCTGTGTCCACTGCAGCCCACAGGCCCGTCAGCCTCTTGCCCCTTCTTAGGCTCACACAGTGCACATCCGACGCTCAGCTTCCCGGCTTCCCGCAGGCCCTGCTTCCAGGCTTGTAGATCTGAGCCGCTGAGATCTAGGACATGTGCCAGGGGGTTCTTTCTGATCATGAATGTGCAGCAGGAAGGCCTCGCAGACCTCAGCACCAGCGCACACTTGCTAGGGGCACCCCTAGTGAAAGGGAGCAGACCAGGGCCCCATAGTCACTGCCCGGGCATTGTCCCAGGCAGCAGGATTAGGGGCATCTCCCAGAGCCCCAGATGGGTTCAGAAAATGAAGCTCTCCAGGCTAGTCAGGCCCCCGATGACCGAATGCCGCCTGCTTTCCAGAGACCAACCTGAAGAAACAGGGCCTGCTGCCTCTGACCTTCGCTGACCCGGCTGACTACAACAAGATTCACCCTGTGGACAAGCTGACCATTCAGGGCCTGAAGGACTTCACCCCTGGCAAGGTTAGGGGCCCGGGTCCCCCTGAGGTGGTGGGGTGAGGGGCAGCCACCTTGTTTCCCCTCCTGCACTGGCCCCAGGGTAGCTTCTCCCAGGAGGCTTCATTCCAGCTGGAAAGGCCCCCAGTTCTCCAGGTGGCCCCACAGAGAAAGCAAAGTGGCTTCTCAGAGTTGGGGGTTGGAGTCAACCCGGGGCCCTCACACCTCCCCAACCTCCCTTTACTCACCAGGACCTGGCACTCAGGGGACAGCCCACCCACTGCAGGACCCTCTGGGCCCCAGGAATCCCCTGTAGGTGCCACCTGGGTCTGACCTGGG 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CTTACCTTCTCTGTGTCCCCGTAATCCTCGGGATTACCTGGGAAAGTGCGTGGGACACATGCAGTTTCCAACCCCAGGTAGGAGTTCCACAAAAGCGAGGCCTTTGCCATTGTTCCCGTGGCCAGAGTGAGCCTTGCCCTTGGCGGTATTCAGCCCTGGCCGTGACTGGCACATGGCCAGGCTCTCTTGACTTGGTTGTTTATCTGCGTGTTCTACAAATATGTCTTGCTAAATGGGTGAAGGAATGGCTCCTTCCATGTTTTTAGTGTCCTGCGCACTGAGCAGGTTTGCATCATACCAGCATTTCTGCGCCAGGGCCCCCACTCCCTCCAGGATAGCTGTGAGGAGAGAGAACAGCACTGCCGGCCCGGCCCTGCAGGGATGGGAGAGGCCGCACTGCCCTTGGCTTCCTGAGTCCTCTGCAGGCCCAAGGCCCCGTGGTCCCAAAGATCGTCCTGCAGCTCTGGCCTCTGAGGAACACAGGGGTCTGGGAAGAACATGGAAATTTCCTGGGTTCCTTTCTCAGTTTTGGCCTAGGCTTTTGGTAGGTGCAGGAGACAGGAGTGGCAATTGGTGCTGACCAACAAACTGGCCACCTCCATTTCAGATTGTCACAGCCCTGGCCATTGCGGGAACCCTCAAGTTCAACCCAGAGACCGACTACCTGACGGGCACGGATGGCAAGAAGTTCAGGCTGGAGGCTCCGGATGCAGATGAGCTTCCCAAAGGGGTGAGCGCCCACGCCCCCTGCTTGCTGGTTGCTGTGTGGCCACGTCACTTCCTTCTCAACCTCACAGCACCTCCTGTGCAGGCAGGGAGGGCGCTGCTAGTGAGAAGGAAGCAGCTCTGTTCCCTGGGAGGGGAGGTGGGGCCCGAGGAAACTTGCCTTCTGAGAGTCTGTCCTTGTGGGAACTGAGGACTCAGCACCCCACGCATCCCCATTCCCTGCTGCAGGAGTTTGACCCAGGGCAGGACACCTACCAGCACCCACCCAAGGACAGCAGCGGGCAGCATGTGGACGTGAGCCCCACCAGCCAGCGCCTGCAGCTCCTGGAGCCTTTTGACAAGTGGGATGGCAAGGACCTGGAGGACCTGCAGATCCTCATCAAGGTCAGCAGCATGGGGACGGCAGGACAGCCCCACCCTGCCAGGGCCCCCCGTCCCCTGAGCATCGGGAAGGGCCATGAACCTGGAGGAAGTGAGCACAGTCAAGACGCAGGTGGGAGATGGAAGGGAGGTTTGGCTGCAGAGCAGAGAGGGTATCGCAACGCAGTCCAGCGTCCCCCTTCTCTGTGGCCCCGAACTGGGCAGAGCTAGATCTGGCCAGCCTCCGTCTGGGGCCCTCAGCCATCCAGCAGCAGCTGATCAGAGCCACCTCCAGTGGGTGTGGGCAGGTGAGTACAGCTCAGGCTGGGCTGGGACAGTGTGTGTGATTGCACAGCAGGCTCCACACCTGGCACGTCCACACAGGCTCTGGAAGCCATGGACAACTCCTGCCCCCACAGTTGGGCACCCGTGGATATGGGATGGCTTGTGTTTGGCACCGACCAAAAACAAGCCTTTTTGGTGTGGCCAGAGGCCTCCAATCTGTGTCAGATATTTATTTATGCTGCTTATTAAGGGGTCTCCAGGCACCCCTGTGACAGAAGAGACTAATCAGTCATCAGCCAGGACCCAGGCATGTCCTGGGCTCCTGTGTCCAGCATGAGGTCTGTGGCTGATCTTGCAGCTGAGGCCTGAAGGGTGAGCGAACATTGACCTGTCCCAACTTTGGGCGGCCTCTGCCCCATAAGGGAGACTGAGCAGCCAGAGGCCTTTGAGGGGATGAAGGCCTGGCCTGAGCCCATGTGGCCTTAGGGTGGAAGCACCAGGACCACAGAACACGTGTCTGAAGACTTGCCTGCCTCTCACCCCTCTGTCACCCCTCCTGGGCCCCGGGGCCTGCTGCCTGCCTCTGGAGGGCTTGTCATCCACCCCTCCAGGGCCATGCCCTGACCTCTGTCCTCTCTACTTACCACCCAAGGTCAAAGGGAAGTGTACCACTGACCGCATCTCAGCTGCTGGCCCCTGGCTCAAGTTCCGTGGGCACTTGGATAACATCTCCAACAACCTGCTCATTGGTGCCATCAACATTGAAAACGGCAAGGCCAACTCCGTGCGCAATGCCGTCACTCAGGAGTTTGGCCCCGTCCCTGACACTGCCCGCTACTACAAGGTGGGTCAGAGTTGATAGGGGCAATGCCAGTGGTCACTCCTGAAGGGGCCTGCAAGGCAGGTGCAGGGAGGACATTAGGGGAGTGGAAACTGGGAAGGAGGCCGACCAAGCCCAAAGGGGACTGCTGTGGAAGGGAGGAGAGGCCTGCAGCCCCTCCCTGTGGCTGAGAAGGCATGAGGCCCAGGTCCGGTGGTACAGCCGGGTCCCTGCACCAGGAGGAGTTAGTGAGAGATATCTTAGGATATCTGGCCCTAGACAAAGACAAGGAAGGGGGCCGACTCAGGAAGTCAGAGGCCAAAAGCTCAGAGAGGGGGCTACACGGGGCCTCACAGTGAGCAGGCAGAGAGGGTCTGAGGTGATTGGACTTTTTCTGCTTTGAGAAACAAACAGAACCAGGGCTGAACCCAAGTCCTGGCCCAGCCGGGTGAAAGGACTCTGGCACCCCCTGGTGGCTGGGTGGGGCAGAGGGTGCTCCCAGGAAGGGGGCGCCTTGAGCTTCACAGATGCATCTTGTGTGGGGCCCGGAGGCCGTCCCTGTCTCACCCAACCTCCCTCCACACACACCTGCCTCTGCCAAGCACCAATGGGTGGCTTCTGTCTTCTTTGCCACTGCAAACAACCACGTGCCTCTGTCCCCTCGGGGCCTCGTTTGGGTCTCATTCACGCAGGCTTCACTTGCCCTTAGGCAGCAGGCGAGGAAGGGCCCCTCCAGCCCCTTTACCGGGAGCCTCAGGATGCCCAGGCGCCAGGTGGGTGAGGCCAGGCAGGTAGGGCCAGACAGGTGAGGACGGTGCCCTCCTCTGCCTTATAACCTTACCCCCGCTTGCCTGACAGAAACATGGCATCAGGTGGGTGGTGATCGGAGACGAGAACTACGGCGAGGGCTCGAGCCGGGAGCATGCAGCTCTGGAGCCTCGCCACCTTGGGGGCCGGGCCATCATCACCAAGAGCTTTGCCAGGATCCACGGTGAGCTGGAGTCTGTACCCAGGCCATCCTCATCCCATCCCTAGTGATCAAGGTCACTCTCCCTGCCCGTGGCTGAGTTGGGCCTGGTTCTAGGCTGTGTCCACTGCAGCCCACAGGCCCGTCAGCCTCTTGCCCCTTCTTAGGCTCACACAGTGCACATCCGACGCTCAGCTTCCCGGCTTCCCGCAGGCCCTGCTTCCAGGCTTGTAGATCTGAGCCGCTGAGATCTAGGACATGTGCCAGGGGGTTCTTTCTGATCATGAATGTGCAGCAGGAAGGCCTCGCAGACCTCAGCACCAGCGCACACTTGCTAGGGGCACCCCTAGTGAAAGGGAGCAGACCAGGGCCCCATAGTCACTGCCCGGGCATTGTCCCAGGCAGCAGGATTAGGGGCATCTCCCAGAGCCCCAGATGGGTTCAGAAAATGAAGCTCTCCAGGCTAGTCAGGCCCCCGATGACCGAATGCCGCCTGCTTTCCAGAGACCAACCTGAAGAAACAGGGCCTGCTGCCTCTGACCTTCGCTGACCCGGCTGACTACAACAAGATTCACCCTGTGGACAAGCTGACCATTCAGGGCCTGAAGGACTTCACCCCTGGCAAGGTTAGGGGCCCGGGTCCCCCTGAGGTGGTGGGGTGAGGGGCAGCCACCTTGTTTCCCCTCCTGCACTGGCCCCAGGGTAGCTTCTCCCAGGAGGCTTCATTCCAGCTGGAAAGGCCCCCAGTTCTCCAGGTGGCCCCACAGAGAAAGCAAAGTGGCTTCTCAGAGTTGGGGGTTGGAGTCAACCCGGGGCCCTCACACCTCCCCAACCTCCCTTTACTCACCAGGACCTGGCACTCAGGGGACAGCCCACCCACTGCAGGACCCTCTGGGCCCCAGGAATCCCCTGTAGGTGCCACCTGGGTCTGACCTGGG 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Task1_train_28865 | A genetic alteration is present in ACO2, POLR3H (aconitase 2| RNA polymerase III subunit H) on Chromosome 22. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | TTTGACAAGTGGGATGGCAAGGACCTGGAGGACCTGCAGATCCTCATCAAGGTCAGCAGCATGGGGACGGCAGGACAGCCCCACCCTGCCAGGGCCCCCCGTCCCCTGAGCATCGGGAAGGGCCATGAACCTGGAGGAAGTGAGCACAGTCAAGACGCAGGTGGGAGATGGAAGGGAGGTTTGGCTGCAGAGCAGAGAGGGTATCGCAACGCAGTCCAGCGTCCCCCTTCTCTGTGGCCCCGAACTGGGCAGAGCTAGATCTGGCCAGCCTCCGTCTGGGGCCCTCAGCCATCCAGCAGCAGCTGATCAGAGCCACCTCCAGTGGGTGTGGGCAGGTGAGTACAGCTCAGGCTGGGCTGGGACAGTGTGTGTGATTGCACAGCAGGCTCCACACCTGGCACGTCCACACAGGCTCTGGAAGCCATGGACAACTCCTGCCCCCACAGTTGGGCACCCGTGGATATGGGATGGCTTGTGTTTGGCACCGACCAAAAACAAGCCTTTTTGGTGTGGCCAGAGGCCTCCAATCTGTGTCAGATATTTATTTATGCTGCTTATTAAGGGGTCTCCAGGCACCCCTGTGACAGAAGAGACTAATCAGTCATCAGCCAGGACCCAGGCATGTCCTGGGCTCCTGTGTCCAGCATGAGGTCTGTGGCTGATCTTGCAGCTGAGGCCTGAAGGGTGAGCGAACATTGACCTGTCCCAACTTTGGGCGGCCTCTGCCCCATAAGGGAGACTGAGCAGCCAGAGGCCTTTGAGGGGATGAAGGCCTGGCCTGAGCCCATGTGGCCTTAGGGTGGAAGCACCAGGACCACAGAACACGTGTCTGAAGACTTGCCTGCCTCTCACCCCTCTGTCACCCCTCCTGGGCCCCGGGGCCTGCTGCCTGCCTCTGGAGGGCTTGTCATCCACCCCTCCAGGGCCATGCCCTGACCTCTGTCCTCTCTACTTACCACCCAAGGTCAAAGGGAAGTGTACCACTGACCACATCTCAGCTGCTGGCCCCTGGCTCAAGTTCCGTGGGCACTTGGATAACATCTCCAACAACCTGCTCATTGGTGCCATCAACATTGAAAACGGCAAGGCCAACTCCGTGCGCAATGCCGTCACTCAGGAGTTTGGCCCCGTCCCTGACACTGCCCGCTACTACAAGGTGGGTCAGAGTTGATAGGGGCAATGCCAGTGGTCACTCCTGAAGGGGCCTGCAAGGCAGGTGCAGGGAGGACATTAGGGGAGTGGAAACTGGGAAGGAGGCCGACCAAGCCCAAAGGGGACTGCTGTGGAAGGGAGGAGAGGCCTGCAGCCCCTCCCTGTGGCTGAGAAGGCATGAGGCCCAGGTCCGGTGGTACAGCCGGGTCCCTGCACCAGGAGGAGTTAGTGAGAGATATCTTAGGATATCTGGCCCTAGACAAAGACAAGGAAGGGGGCCGACTCAGGAAGTCAGAGGCCAAAAGCTCAGAGAGGGGGCTACACGGGGCCTCACAGTGAGCAGGCAGAGAGGGTCTGAGGTGATTGGACTTTTTCTGCTTTGAGAAACAAACAGAACCAGGGCTGAACCCAAGTCCTGGCCCAGCCGGGTGAAAGGACTCTGGCACCCCCTGGTGGCTGGGTGGGGCAGAGGGTGCTCCCAGGAAGGGGGCGCCTTGAGCTTCACAGATGCATCTTGTGTGGGGCCCGGAGGCCGTCCCTGTCTCACCCAACCTCCCTCCACACACACCTGCCTCTGCCAAGCACCAATGGGTGGCTTCTGTCTTCTTTGCCACTGCAAACAACCACGTGCCTCTGTCCCCTCGGGGCCTCGTTTGGGTCTCATTCACGCAGGCTTCACTTGCCCTTAGGCAGCAGGCGAGGAAGGGCCCCTCCAGCCCCTTTACCGGGAGCCTCAGGATGCCCAGGCGCCAGGTGGGTGAGGCCAGGCAGGTAGGGCCAGACAGGTGAGGACGGTGCCCTCCTCTGCCTTATAACCTTACCCCCGCTTGCCTGACAGAAACATGGCATCAGGTGGGTGGTGATCGGAGACGAGAACTACGGCGAGGGCTCGAGCCGGGAGCATGCAGCTCTGGAGCCTCGCCACCTTGGGGGCCGGGCCATCATCACCAAGAGCTTTGCCAGGATCCACGGTGAGCTGGAGTCTGTACCCAGGCCATCCTCATCCCATCCCTAGTGATCAAGGTCACTCTCCCTGCCCGTGGCTGAGTTGGGCCTGGTTCTAGGCTGTGTCCACTGCAGCCCACAGGCCCGTCAGCCTCTTGCCCCTTCTTAGGCTCACACAGTGCACATCCGACGCTCAGCTTCCCGGCTTCCCGCAGGCCCTGCTTCCAGGCTTGTAGATCTGAGCCGCTGAGATCTAGGACATGTGCCAGGGGGTTCTTTCTGATCATGAATGTGCAGCAGGAAGGCCTCGCAGACCTCAGCACCAGCGCACACTTGCTAGGGGCACCCCTAGTGAAAGGGAGCAGACCAGGGCCCCATAGTCACTGCCCGGGCATTGTCCCAGGCAGCAGGATTAGGGGCATCTCCCAGAGCCCCAGATGGGTTCAGAAAATGAAGCTCTCCAGGCTAGTCAGGCCCCCGATGACCGAATGCCGCCTGCTTTCCAGAGACCAACCTGAAGAAACAGGGCCTGCTGCCTCTGACCTTCGCTGACCCGGCTGACTACAACAAGATTCACCCTGTGGACAAGCTGACCATTCAGGGCCTGAAGGACTTCACCCCTGGCAAGGTTAGGGGCCCGGGTCCCCCTGAGGTGGTGGGGTGAGGGGCAGCCACCTTGTTTCCCCTCCTGCACTGGCCCCAGGGTAGCTTCTCCCAGGAGGCTTCATTCCAGCTGGAAAGGCCCCCAGTTCTCCAGGTGGCCCCACAGAGAAAGCAAAGTGGCTTCTCAGAGTTGGGGGTTGGAGTCAACCCGGGGCCCTCACACCTCCCCAACCTCCCTTTACTCACCAGGACCTGGCACTCAGGGGACAGCCCACCCACTGCAGGACCCTCTGGGCCCCAGGAATCCCCTGTAGGTGCCACCTGGGTCTGACCTGGGCCATCAGGCACAGACTGGCCTAGGATTTGGTTTGCCTGCTGACCTCTTAGGTCCCCAGGCAGTGCCCTGTCTCCCTGACCCCCCTGCGGGGCCAAGGGCACACAGTACCCACCACTTCCACCCACACCCACCTTCTCCTTGCAGCCCCTGAAGTGCATCATCAAGCACCCCAACGGGACCCAGGAGACCATCCTCCTGAACCACACCTTCAACGAGACGCAGATTGAGTGGTTCCGCGCTGGCAGTGCCCTCAACAGAATGAAGGAACTGCAACAGTGAGGGCAGTGCCTCCCCGCCCCGCCGCTGGCGTCAAGTTCAGCTCCACGTGTGCCATCAGTGGATCCGATCCGTCCAGCCATGGCTTCCTATTCCAAGATGGTGTGACCAGACATGCTTCCTGCTCCCCGCTTAGCCCACGGAGTGACTGTGGTTGTGGTGGGGGGGTTCTTAAAATAACTTTTTAGCCCCCGTCTTCCTATTTTGAGTTTGGTTCAGATCTTAAGCAGCTCCATGCAACTGTATTTATTTTTGATGACAAGACTCCCATCTAAAGTTTTTCTCCTGCCTGATCATTTCATTGGTGGCTGAAGGATTCTAGAGAACCTTTTGTTCTTGCAAGGAAAACAAGAATCCAAAACCAGTGACTGTTCTGTGAGTGATTGGTGTCTGTGCCGTTTGTTGTCAAGTCCAGGGTCCAGGAAGGGTCTTTTCAGTCAAGGTCAGTGGAGGCCCAACAGCCACAGCCACAGATGGATCCATCACTGCAGTGAAGGAGGAGCAGGGCCTAGATGGTGGAGGAGCGGGGCAAGCTGGTGGGCACTCCTGGCCTTGCCTCACTGTCCAGCTCGAGACACTATCTCCTTAGCATCGGCCTCAGCTGCTGTTGTCTTCACAGCCGGCCATACCACCTTCCCGCAGGCTGGTAGGGTCCACTGTCCAGCCCCAGGGCTAGTTGCTGGTCCACCAGGAGAGAAGGCCCAGGCCTGGCTCACTGATGGATCCCTGCCAGGGATAAAGAACACGCACATTTCACTGACATGCTGGCTTGAACCAACCTGG 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TTTGACAAGTGGGATGGCAAGGACCTGGAGGACCTGCAGATCCTCATCAAGGTCAGCAGCATGGGGACGGCAGGACAGCCCCACCCTGCCAGGGCCCCCCGTCCCCTGAGCATCGGGAAGGGCCATGAACCTGGAGGAAGTGAGCACAGTCAAGACGCAGGTGGGAGATGGAAGGGAGGTTTGGCTGCAGAGCAGAGAGGGTATCGCAACGCAGTCCAGCGTCCCCCTTCTCTGTGGCCCCGAACTGGGCAGAGCTAGATCTGGCCAGCCTCCGTCTGGGGCCCTCAGCCATCCAGCAGCAGCTGATCAGAGCCACCTCCAGTGGGTGTGGGCAGGTGAGTACAGCTCAGGCTGGGCTGGGACAGTGTGTGTGATTGCACAGCAGGCTCCACACCTGGCACGTCCACACAGGCTCTGGAAGCCATGGACAACTCCTGCCCCCACAGTTGGGCACCCGTGGATATGGGATGGCTTGTGTTTGGCACCGACCAAAAACAAGCCTTTTTGGTGTGGCCAGAGGCCTCCAATCTGTGTCAGATATTTATTTATGCTGCTTATTAAGGGGTCTCCAGGCACCCCTGTGACAGAAGAGACTAATCAGTCATCAGCCAGGACCCAGGCATGTCCTGGGCTCCTGTGTCCAGCATGAGGTCTGTGGCTGATCTTGCAGCTGAGGCCTGAAGGGTGAGCGAACATTGACCTGTCCCAACTTTGGGCGGCCTCTGCCCCATAAGGGAGACTGAGCAGCCAGAGGCCTTTGAGGGGATGAAGGCCTGGCCTGAGCCCATGTGGCCTTAGGGTGGAAGCACCAGGACCACAGAACACGTGTCTGAAGACTTGCCTGCCTCTCACCCCTCTGTCACCCCTCCTGGGCCCCGGGGCCTGCTGCCTGCCTCTGGAGGGCTTGTCATCCACCCCTCCAGGGCCATGCCCTGACCTCTGTCCTCTCTACTTACCACCCAAGGTCAAAGGGAAGTGTACCACTGACCACATCTCAGCTGCTGGCCCCTGGCTCAAGTTCCGTGGGCACTTGGATAACATCTCCAACAACCTGCTCATTGGTGCCATCAACATTGAAAACGGCAAGGCCAACTCCGTGCGCAATGCCGTCACTCAGGAGTTTGGCCCCGTCCCTGACACTGCCCGCTACTACAAGGTGGGTCAGAGTTGATAGGGGCAATGCCAGTGGTCACTCCTGAAGGGGCCTGCAAGGCAGGTGCAGGGAGGACATTAGGGGAGTGGAAACTGGGAAGGAGGCCGACCAAGCCCAAAGGGGACTGCTGTGGAAGGGAGGAGAGGCCTGCAGCCCCTCCCTGTGGCTGAGAAGGCATGAGGCCCAGGTCCGGTGGTACAGCCGGGTCCCTGCACCAGGAGGAGTTAGTGAGAGATATCTTAGGATATCTGGCCCTAGACAAAGACAAGGAAGGGGGCCGACTCAGGAAGTCAGAGGCCAAAAGCTCAGAGAGGGGGCTACACGGGGCCTCACAGTGAGCAGGCAGAGAGGGTCTGAGGTGATTGGACTTTTTCTGCTTTGAGAAACAAACAGAACCAGGGCTGAACCCAAGTCCTGGCCCAGCCGGGTGAAAGGACTCTGGCACCCCCTGGTGGCTGGGTGGGGCAGAGGGTGCTCCCAGGAAGGGGGCGCCTTGAGCTTCACAGATGCATCTTGTGTGGGGCCCGGAGGCCGTCCCTGTCTCACCCAACCTCCCTCCACACACACCTGCCTCTGCCAAGCACCAATGGGTGGCTTCTGTCTTCTTTGCCACTGCAAACAACCACGTGCCTCTGTCCCCTCGGGGCCTCGTTTGGGTCTCATTCACGCAGGCTTCACTTGCCCTTAGGCAGCAGGCGAGGAAGGGCCCCTCCAGCCCCTTTACCGGGAGCCTCAGGATGCCCAGGCGCCAGGTGGGTGAGGCCAGGCAGGTAGGGCCAGACAGGTGAGGACGGTGCCCTCCTCTGCCTTATAACCTTACCCCCGCTTGCCTGACAGAAACATGGCATCAGGTGGGTGGTGATCGGAGACGAGAACTACGGCGAGGGCTCGAGCCAGGAGCATGCAGCTCTGGAGCCTCGCCACCTTGGGGGCCGGGCCATCATCACCAAGAGCTTTGCCAGGATCCACGGTGAGCTGGAGTCTGTACCCAGGCCATCCTCATCCCATCCCTAGTGATCAAGGTCACTCTCCCTGCCCGTGGCTGAGTTGGGCCTGGTTCTAGGCTGTGTCCACTGCAGCCCACAGGCCCGTCAGCCTCTTGCCCCTTCTTAGGCTCACACAGTGCACATCCGACGCTCAGCTTCCCGGCTTCCCGCAGGCCCTGCTTCCAGGCTTGTAGATCTGAGCCGCTGAGATCTAGGACATGTGCCAGGGGGTTCTTTCTGATCATGAATGTGCAGCAGGAAGGCCTCGCAGACCTCAGCACCAGCGCACACTTGCTAGGGGCACCCCTAGTGAAAGGGAGCAGACCAGGGCCCCATAGTCACTGCCCGGGCATTGTCCCAGGCAGCAGGATTAGGGGCATCTCCCAGAGCCCCAGATGGGTTCAGAAAATGAAGCTCTCCAGGCTAGTCAGGCCCCCGATGACCGAATGCCGCCTGCTTTCCAGAGACCAACCTGAAGAAACAGGGCCTGCTGCCTCTGACCTTCGCTGACCCGGCTGACTACAACAAGATTCACCCTGTGGACAAGCTGACCATTCAGGGCCTGAAGGACTTCACCCCTGGCAAGGTTAGGGGCCCGGGTCCCCCTGAGGTGGTGGGGTGAGGGGCAGCCACCTTGTTTCCCCTCCTGCACTGGCCCCAGGGTAGCTTCTCCCAGGAGGCTTCATTCCAGCTGGAAAGGCCCCCAGTTCTCCAGGTGGCCCCACAGAGAAAGCAAAGTGGCTTCTCAGAGTTGGGGGTTGGAGTCAACCCGGGGCCCTCACACCTCCCCAACCTCCCTTTACTCACCAGGACCTGGCACTCAGGGGACAGCCCACCCACTGCAGGACCCTCTGGGCCCCAGGAATCCCCTGTAGGTGCCACCTGGGTCTGACCTGGGCCATCAGGCACAGACTGGCCTAGGATTTGGTTTGCCTGCTGACCTCTTAGGTCCCCAGGCAGTGCCCTGTCTCCCTGACCCCCCTGCGGGGCCAAGGGCACACAGTACCCACCACTTCCACCCACACCCACCTTCTCCTTGCAGCCCCTGAAGTGCATCATCAAGCACCCCAACGGGACCCAGGAGACCATCCTCCTGAACCACACCTTCAACGAGACGCAGATTGAGTGGTTCCGCGCTGGCAGTGCCCTCAACAGAATGAAGGAACTGCAACAGTGAGGGCAGTGCCTCCCCGCCCCGCCGCTGGCGTCAAGTTCAGCTCCACGTGTGCCATCAGTGGATCCGATCCGTCCAGCCATGGCTTCCTATTCCAAGATGGTGTGACCAGACATGCTTCCTGCTCCCCGCTTAGCCCACGGAGTGACTGTGGTTGTGGTGGGGGGGTTCTTAAAATAACTTTTTAGCCCCCGTCTTCCTATTTTGAGTTTGGTTCAGATCTTAAGCAGCTCCATGCAACTGTATTTATTTTTGATGACAAGACTCCCATCTAAAGTTTTTCTCCTGCCTGATCATTTCATTGGTGGCTGAAGGATTCTAGAGAACCTTTTGTTCTTGCAAGGAAAACAAGAATCCAAAACCAGTGACTGTTCTGTGAGTGATTGGTGTCTGTGCCGTTTGTTGTCAAGTCCAGGGTCCAGGAAGGGTCTTTTCAGTCAAGGTCAGTGGAGGCCCAACAGCCACAGCCACAGATGGATCCATCACTGCAGTGAAGGAGGAGCAGGGCCTAGATGGTGGAGGAGCGGGGCAAGCTGGTGGGCACTCCTGGCCTTGCCTCACTGTCCAGCTCGAGACACTATCTCCTTAGCATCGGCCTCAGCTGCTGTTGTCTTCACAGCCGGCCATACCACCTTCCCGCAGGCTGGTAGGGTCCACTGTCCAGCCCCAGGGCTAGTTGCTGGTCCACCAGGAGAGAAGGCCCAGGCCTGGCTCACTGATGGATCCCTGCCAGGGATAAAGAACACGCACATTTCACTGACATGCTGGCTTGAACCAACCTGG 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Task1_train_28866 | A mutation on Chromosome 22 affecting ACO2, POLR3H (aconitase 2| RNA polymerase III subunit H) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Infantile cerebellar-retinal degeneration | CCTGAAGGGTGAGCGAACATTGACCTGTCCCAACTTTGGGCGGCCTCTGCCCCATAAGGGAGACTGAGCAGCCAGAGGCCTTTGAGGGGATGAAGGCCTGGCCTGAGCCCATGTGGCCTTAGGGTGGAAGCACCAGGACCACAGAACACGTGTCTGAAGACTTGCCTGCCTCTCACCCCTCTGTCACCCCTCCTGGGCCCCGGGGCCTGCTGCCTGCCTCTGGAGGGCTTGTCATCCACCCCTCCAGGGCCATGCCCTGACCTCTGTCCTCTCTACTTACCACCCAAGGTCAAAGGGAAGTGTACCACTGACCACATCTCAGCTGCTGGCCCCTGGCTCAAGTTCCGTGGGCACTTGGATAACATCTCCAACAACCTGCTCATTGGTGCCATCAACATTGAAAACGGCAAGGCCAACTCCGTGCGCAATGCCGTCACTCAGGAGTTTGGCCCCGTCCCTGACACTGCCCGCTACTACAAGGTGGGTCAGAGTTGATAGGGGCAATGCCAGTGGTCACTCCTGAAGGGGCCTGCAAGGCAGGTGCAGGGAGGACATTAGGGGAGTGGAAACTGGGAAGGAGGCCGACCAAGCCCAAAGGGGACTGCTGTGGAAGGGAGGAGAGGCCTGCAGCCCCTCCCTGTGGCTGAGAAGGCATGAGGCCCAGGTCCGGTGGTACAGCCGGGTCCCTGCACCAGGAGGAGTTAGTGAGAGATATCTTAGGATATCTGGCCCTAGACAAAGACAAGGAAGGGGGCCGACTCAGGAAGTCAGAGGCCAAAAGCTCAGAGAGGGGGCTACACGGGGCCTCACAGTGAGCAGGCAGAGAGGGTCTGAGGTGATTGGACTTTTTCTGCTTTGAGAAACAAACAGAACCAGGGCTGAACCCAAGTCCTGGCCCAGCCGGGTGAAAGGACTCTGGCACCCCCTGGTGGCTGGGTGGGGCAGAGGGTGCTCCCAGGAAGGGGGCGCCTTGAGCTTCACAGATGCATCTTGTGTGGGGCCCGGAGGCCGTCCCTGTCTCACCCAACCTCCCTCCACACACACCTGCCTCTGCCAAGCACCAATGGGTGGCTTCTGTCTTCTTTGCCACTGCAAACAACCACGTGCCTCTGTCCCCTCGGGGCCTCGTTTGGGTCTCATTCACGCAGGCTTCACTTGCCCTTAGGCAGCAGGCGAGGAAGGGCCCCTCCAGCCCCTTTACCGGGAGCCTCAGGATGCCCAGGCGCCAGGTGGGTGAGGCCAGGCAGGTAGGGCCAGACAGGTGAGGACGGTGCCCTCCTCTGCCTTATAACCTTACCCCCGCTTGCCTGACAGAAACATGGCATCAGGTGGGTGGTGATCGGAGACGAGAACTACGGCGAGGGCTCGAGCCGGGAGCATGCAGCTCTGGAGCCTCGCCACCTTGGGGGCCGGGCCATCATCACCAAGAGCTTTGCCAGGATCCACGGTGAGCTGGAGTCTGTACCCAGGCCATCCTCATCCCATCCCTAGTGATCAAGGTCACTCTCCCTGCCCGTGGCTGAGTTGGGCCTGGTTCTAGGCTGTGTCCACTGCAGCCCACAGGCCCGTCAGCCTCTTGCCCCTTCTTAGGCTCACACAGTGCACATCCGACGCTCAGCTTCCCGGCTTCCCGCAGGCCCTGCTTCCAGGCTTGTAGATCTGAGCCGCTGAGATCTAGGACATGTGCCAGGGGGTTCTTTCTGATCATGAATGTGCAGCAGGAAGGCCTCGCAGACCTCAGCACCAGCGCACACTTGCTAGGGGCACCCCTAGTGAAAGGGAGCAGACCAGGGCCCCATAGTCACTGCCCGGGCATTGTCCCAGGCAGCAGGATTAGGGGCATCTCCCAGAGCCCCAGATGGGTTCAGAAAATGAAGCTCTCCAGGCTAGTCAGGCCCCCGATGACCGAATGCCGCCTGCTTTCCAGAGACCAACCTGAAGAAACAGGGCCTGCTGCCTCTGACCTTCGCTGACCCGGCTGACTACAACAAGATTCACCCTGTGGACAAGCTGACCATTCAGGGCCTGAAGGACTTCACCCCTGGCAAGGTTAGGGGCCCGGGTCCCCCTGAGGTGGTGGGGTGAGGGGCAGCCACCTTGTTTCCCCTCCTGCACTGGCCCCAGGGTAGCTTCTCCCAGGAGGCTTCATTCCAGCTGGAAAGGCCCCCAGTTCTCCAGGTGGCCCCACAGAGAAAGCAAAGTGGCTTCTCAGAGTTGGGGGTTGGAGTCAACCCGGGGCCCTCACACCTCCCCAACCTCCCTTTACTCACCAGGACCTGGCACTCAGGGGACAGCCCACCCACTGCAGGACCCTCTGGGCCCCAGGAATCCCCTGTAGGTGCCACCTGGGTCTGACCTGGGCCATCAGGCACAGACTGGCCTAGGATTTGGTTTGCCTGCTGACCTCTTAGGTCCCCAGGCAGTGCCCTGTCTCCCTGACCCCCCTGCGGGGCCAAGGGCACACAGTACCCACCACTTCCACCCACACCCACCTTCTCCTTGCAGCCCCTGAAGTGCATCATCAAGCACCCCAACGGGACCCAGGAGACCATCCTCCTGAACCACACCTTCAACGAGACGCAGATTGAGTGGTTCCGCGCTGGCAGTGCCCTCAACAGAATGAAGGAACTGCAACAGTGAGGGCAGTGCCTCCCCGCCCCGCCGCTGGCGTCAAGTTCAGCTCCACGTGTGCCATCAGTGGATCCGATCCGTCCAGCCATGGCTTCCTATTCCAAGATGGTGTGACCAGACATGCTTCCTGCTCCCCGCTTAGCCCACGGAGTGACTGTGGTTGTGGTGGGGGGGTTCTTAAAATAACTTTTTAGCCCCCGTCTTCCTATTTTGAGTTTGGTTCAGATCTTAAGCAGCTCCATGCAACTGTATTTATTTTTGATGACAAGACTCCCATCTAAAGTTTTTCTCCTGCCTGATCATTTCATTGGTGGCTGAAGGATTCTAGAGAACCTTTTGTTCTTGCAAGGAAAACAAGAATCCAAAACCAGTGACTGTTCTGTGAGTGATTGGTGTCTGTGCCGTTTGTTGTCAAGTCCAGGGTCCAGGAAGGGTCTTTTCAGTCAAGGTCAGTGGAGGCCCAACAGCCACAGCCACAGATGGATCCATCACTGCAGTGAAGGAGGAGCAGGGCCTAGATGGTGGAGGAGCGGGGCAAGCTGGTGGGCACTCCTGGCCTTGCCTCACTGTCCAGCTCGAGACACTATCTCCTTAGCATCGGCCTCAGCTGCTGTTGTCTTCACAGCCGGCCATACCACCTTCCCGCAGGCTGGTAGGGTCCACTGTCCAGCCCCAGGGCTAGTTGCTGGTCCACCAGGAGAGAAGGCCCAGGCCTGGCTCACTGATGGATCCCTGCCAGGGATAAAGAACACGCACATTTCACTGACATGCTGGCTTGAACCAACCTGGACAGGAGGTGAAGGGAGCCCAGCAGGCCCAGCACAGGCAAAGAAGAGGCGGGGCACACGGCAGCCAAGAGGCTCTGGAGAGATGTGGGAGCCACAGCAGTGCTCCCAACGGGCACGCAGCACGCAGGGCGCAGACCCTTCTCCAGGGACTCCAGGCCCTGATAGGGTCAGGGACCCTTCCTCACCCTTAGGCCTGCCCTCCAGGGCCACCTAGGTTCTAATCGTGGCAGGAAGGCTGAGCAAACACAAGGCCCATGCTCCAGACGCATCCAACAGGGAGCAGCCTTGAAAGCCACTCTTCCCCGGAGCCCTCCCTTTTATTTCACTGCTGCAATGCTGCTCCTACAGGGAGCCCTACCTTTTTTTTGTTGTTTTTTTTTTTTGAGACAGTCTCGCACTGTCACCCGGGCTGGAGTGGAGTGGCACGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCCAGCAGCCCTACCCTTAAT 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CCTGAAGGGTGAGCGAACATTGACCTGTCCCAACTTTGGGCGGCCTCTGCCCCATAAGGGAGACTGAGCAGCCAGAGGCCTTTGAGGGGATGAAGGCCTGGCCTGAGCCCATGTGGCCTTAGGGTGGAAGCACCAGGACCACAGAACACGTGTCTGAAGACTTGCCTGCCTCTCACCCCTCTGTCACCCCTCCTGGGCCCCGGGGCCTGCTGCCTGCCTCTGGAGGGCTTGTCATCCACCCCTCCAGGGCCATGCCCTGACCTCTGTCCTCTCTACTTACCACCCAAGGTCAAAGGGAAGTGTACCACTGACCACATCTCAGCTGCTGGCCCCTGGCTCAAGTTCCGTGGGCACTTGGATAACATCTCCAACAACCTGCTCATTGGTGCCATCAACATTGAAAACGGCAAGGCCAACTCCGTGCGCAATGCCGTCACTCAGGAGTTTGGCCCCGTCCCTGACACTGCCCGCTACTACAAGGTGGGTCAGAGTTGATAGGGGCAATGCCAGTGGTCACTCCTGAAGGGGCCTGCAAGGCAGGTGCAGGGAGGACATTAGGGGAGTGGAAACTGGGAAGGAGGCCGACCAAGCCCAAAGGGGACTGCTGTGGAAGGGAGGAGAGGCCTGCAGCCCCTCCCTGTGGCTGAGAAGGCATGAGGCCCAGGTCCGGTGGTACAGCCGGGTCCCTGCACCAGGAGGAGTTAGTGAGAGATATCTTAGGATATCTGGCCCTAGACAAAGACAAGGAAGGGGGCCGACTCAGGAAGTCAGAGGCCAAAAGCTCAGAGAGGGGGCTACACGGGGCCTCACAGTGAGCAGGCAGAGAGGGTCTGAGGTGATTGGACTTTTTCTGCTTTGAGAAACAAACAGAACCAGGGCTGAACCCAAGTCCTGGCCCAGCCGGGTGAAAGGACTCTGGCACCCCCTGGTGGCTGGGTGGGGCAGAGGGTGCTCCCAGGAAGGGGGCGCCTTGAGCTTCACAGATGCATCTTGTGTGGGGCCCGGAGGCCGTCCCTGTCTCACCCAACCTCCCTCCACACACACCTGCCTCTGCCAAGCACCAATGGGTGGCTTCTGTCTTCTTTGCCACTGCAAACAACCACGTGCCTCTGTCCCCTCGGGGCCTCGTTTGGGTCTCATTCACGCAGGCTTCACTTGCCCTTAGGCAGCAGGCGAGGAAGGGCCCCTCCAGCCCCTTTACCGGGAGCCTCAGGATGCCCAGGCGCCAGGTGGGTGAGGCCAGGCAGGTAGGGCCAGACAGGTGAGGACGGTGCCCTCCTCTGCCTTATAACCTTACCCCCGCTTGCCTGACAGAAACATGGCATCAGGTGGGTGGTGATCGGAGACGAGAACTACGGCGAGGGCTCGAGCCGGGAGCATGCAGCTCTGGAGCCTCGCCACCTTGGGGGCCGGGCCATCATCACCAAGAGCTTTGCCAGGATCCACGGTGAGCTGGAGTCTGTACCCAGGCCATCCTCATCCCATCCCTAGTGATCAAGGTCACTCTCCCTGCCCGTGGCTGAGTTGGGCCTGGTTCTAGGCTGTGTCCACTGCAGCCCACAGGCCCGTCAGCCTCTTGCCCCTTCTTAGGCTCACACAGTGCACATCCGACGCTCAGCTTCCCGGCTTCCCGCAGGCCCTGCTTCCAGGCTTGTAGATCTGAGCCGCTGAGATCTAGGACATGTGCCAGGGGGTTCTTTCTGATCATGAATGTGCAGCAGGAAGGCCTCGCAGACCTCAGCACCAGCGCACACTTGCTAGGGGCACCCCTAGTGAAAGGGAGCAGACCAGGGCCCCATAGTCACTGCCCGGGCATTGTCCCAGGCAGCAGGATTAGGGGCATCTCCCAGAGCCCCAGATGGGTTCAGAAAATGAAGCTCTCCAGGCTAGTCAGGCCCCCGATGACCGAATGCCGCCTGCTTTCCAGAGACCAACCTGAAGAAACAGGGCCTGCTGCCTCTGACCTTCGCTGACCCGGCTGACTACAACAAGATTCACCCTGTGGACAAGCTGACCATTCAGGGCCTGAAGGACTTCACCCCTGGCAACGTTAGGGGCCCGGGTCCCCCTGAGGTGGTGGGGTGAGGGGCAGCCACCTTGTTTCCCCTCCTGCACTGGCCCCAGGGTAGCTTCTCCCAGGAGGCTTCATTCCAGCTGGAAAGGCCCCCAGTTCTCCAGGTGGCCCCACAGAGAAAGCAAAGTGGCTTCTCAGAGTTGGGGGTTGGAGTCAACCCGGGGCCCTCACACCTCCCCAACCTCCCTTTACTCACCAGGACCTGGCACTCAGGGGACAGCCCACCCACTGCAGGACCCTCTGGGCCCCAGGAATCCCCTGTAGGTGCCACCTGGGTCTGACCTGGGCCATCAGGCACAGACTGGCCTAGGATTTGGTTTGCCTGCTGACCTCTTAGGTCCCCAGGCAGTGCCCTGTCTCCCTGACCCCCCTGCGGGGCCAAGGGCACACAGTACCCACCACTTCCACCCACACCCACCTTCTCCTTGCAGCCCCTGAAGTGCATCATCAAGCACCCCAACGGGACCCAGGAGACCATCCTCCTGAACCACACCTTCAACGAGACGCAGATTGAGTGGTTCCGCGCTGGCAGTGCCCTCAACAGAATGAAGGAACTGCAACAGTGAGGGCAGTGCCTCCCCGCCCCGCCGCTGGCGTCAAGTTCAGCTCCACGTGTGCCATCAGTGGATCCGATCCGTCCAGCCATGGCTTCCTATTCCAAGATGGTGTGACCAGACATGCTTCCTGCTCCCCGCTTAGCCCACGGAGTGACTGTGGTTGTGGTGGGGGGGTTCTTAAAATAACTTTTTAGCCCCCGTCTTCCTATTTTGAGTTTGGTTCAGATCTTAAGCAGCTCCATGCAACTGTATTTATTTTTGATGACAAGACTCCCATCTAAAGTTTTTCTCCTGCCTGATCATTTCATTGGTGGCTGAAGGATTCTAGAGAACCTTTTGTTCTTGCAAGGAAAACAAGAATCCAAAACCAGTGACTGTTCTGTGAGTGATTGGTGTCTGTGCCGTTTGTTGTCAAGTCCAGGGTCCAGGAAGGGTCTTTTCAGTCAAGGTCAGTGGAGGCCCAACAGCCACAGCCACAGATGGATCCATCACTGCAGTGAAGGAGGAGCAGGGCCTAGATGGTGGAGGAGCGGGGCAAGCTGGTGGGCACTCCTGGCCTTGCCTCACTGTCCAGCTCGAGACACTATCTCCTTAGCATCGGCCTCAGCTGCTGTTGTCTTCACAGCCGGCCATACCACCTTCCCGCAGGCTGGTAGGGTCCACTGTCCAGCCCCAGGGCTAGTTGCTGGTCCACCAGGAGAGAAGGCCCAGGCCTGGCTCACTGATGGATCCCTGCCAGGGATAAAGAACACGCACATTTCACTGACATGCTGGCTTGAACCAACCTGGACAGGAGGTGAAGGGAGCCCAGCAGGCCCAGCACAGGCAAAGAAGAGGCGGGGCACACGGCAGCCAAGAGGCTCTGGAGAGATGTGGGAGCCACAGCAGTGCTCCCAACGGGCACGCAGCACGCAGGGCGCAGACCCTTCTCCAGGGACTCCAGGCCCTGATAGGGTCAGGGACCCTTCCTCACCCTTAGGCCTGCCCTCCAGGGCCACCTAGGTTCTAATCGTGGCAGGAAGGCTGAGCAAACACAAGGCCCATGCTCCAGACGCATCCAACAGGGAGCAGCCTTGAAAGCCACTCTTCCCCGGAGCCCTCCCTTTTATTTCACTGCTGCAATGCTGCTCCTACAGGGAGCCCTACCTTTTTTTTGTTGTTTTTTTTTTTTGAGACAGTCTCGCACTGTCACCCGGGCTGGAGTGGAGTGGCACGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCCAGCAGCCCTACCCTTAAT 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Task1_train_28867 | Assess the clinical impact of this variant on gene CCDC134 (coiled-coil domain containing 134), found on Chromosome 22. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Severe progressive deforming recessive osteogenesis imperfecta (type III) | CAAGACCAGCCTGGCCAACATGGCAAAACCCCGTTGCTACTAAAAATACAAAAATTAGCTGTGTGTGGTGGCAGGCAACTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGGAGAATCGCTTGAACCCAGGAAGCGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCTCTCCAGACTGGGCAACAGAGCAAGACTCCGTCTCAAAAAAACAAAACAAAACAAAAACTAGTGCCTTCAACTGGGGAATACCTGGCTCTTAGTTAAAAGCATGAGAAATTTCCTGGTTAAATGGAACAATTCAGACACATCAAGAAAAGCCCGAAGTACAGAATCAAGTTATACTAGAGGAAAACATTGTTTTTCTAGGCCCTCAAGACAGAATATTTGAGTGTCAGGCCGTAACAGCAGAGTTAGAACCAGAGAAAAAAGCTATAGTAGCCGGGTGCAGTGACTCACACCTGTATCCCAGTACTTTGGGAGGCCAAGATGGGTGGATCACTTGAGCCCAGGAGTTCAAGACTAGCCTGGGCAATGTAGCAAAACCCACGTCTAAGAAAAATACAAAAAATAGCCGTGCATGGCGGCATGCACCTGTAGTGCCAGCTATTCAGGAGGCTGAGGTGGGAGGATGGCTTGAGCCTGGGAAGTGGAGGCTGCAATGAGCCATGACTGTGCCACTGCACTCCAGCCTGGGCAGCAGAGCAGGACCCTGTCTCAAAAAAAAAAAAAAAAATTACAGGAACTAACAAAAAACATTTAAGAGAATTACCACCCCAGCCAAGTGAAAAGATGCATCCTTTCAAGGGGAGAAAGAGGAAGGGTGGAAGGCAGCAATGTATGTCCTGGGAATCACCAGGAAAGTGAACTTCACAGTGCTCAATAAATAATTGTGTTGGCTGGGCATAGTGGCTCACGCCTGTAATCCCAGTATTTGGGAGGCTGGGGCGAGAGGATCTCTTGAGCTCAGGAGTTGGAGACCAGCCTGGGCAATATAGCAAGACCTCATCTCTACTAAGGAAAAAATAAATAAAAAGGGCCGGGCGCGGTGGCTCACATCTGAATCCCAGCACTTTGGGAGGACAAGGCAGGCGGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGGCCAATATGGAGAAACCCCGTCTCTACTGAAAATACAGAATTAGCTGGGCATGGTGGCGCATGCGTGTAATCCCAGCTACTCAGGAGGCCGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCATTCCACTCCAGCCTGAGCAACAAGAGTGAAACTCCATCTTAAAAAAAAAAAATTAAATTAAAATAAATAAATAATTGTTGCATGTTGCCTGAATATGAACAGGTATTCTATGTAGTACCTATGGTTCCAAAGTGAGTGAGTAGCAAGCCCCCTTACCCCGAGACTGCCCTGCCTTCCTCCCTGCCCTTTGTCCCTTCTTACTTTCTGATGACAAAAGTCAAGGAAGGAGGAAAACTCCAGAAGTTTCATATCTTCTCTGCCTGGGCTTCCTTGACCAGATGCTTTCCTGGGAGACCAGGATAGGGGATGTGGAAGGAATACTGTTGACGAGCCCCTCCTCCCCAGGCACAGTGCCTCACCCAGACCTCCCTCCCTGCAGCAGGGAGGTGACCTCCTTATCCCTGTTCTACAGCTGAGAAGGCTGAGGCTCAGAAAGGCTGGGCAAGCTGCTCGAGGTCCCAGAGACGGGCGGGGGCAGGGCTCCAGCCTAGAGCTCTAGCCACTGACCCTGTGCTCTAAGTGTTCCTGTGTTACACACACTTATCTTTCTCCCCACCTCCTAGCATCCCACGGCTCTGTATTGTGTGCCTGCTGGCCCTGGGATAAGAGCTGCAGCTTCAGGGCTCCCCAAAGCTGGGTTCTTGGTATACAGAGGCTGCACTATGTCGGGGGAAGCTGCTGTTCACCTGTGCACTCTATTTTATGTAACACCGATCTCTGAGTCTCACTCTCTTTCTTTGGGTTATTCTTCCAGCTCAAGAGGTTTGGATATGGACCTTCTTCAATTCCTGGCCTTCCTCTTTGTCCTGCTTTTGTCTGGGATGGGAGCCACAGGCACCTTGAGGACCTCCCTGGACCCAAGCCTGGAGATCTGTATCCTTTGGGGTTGTAGTTAATGAGCTGTCTTTGAGAGGTCTATAAATGAGGTTCTTCTACTCAGGGATTCCAGGGATAAGCAGGCCCAGCTGGCGGGAACAGGGAGAAAAGGTGAGGTGCTCTAGCCAGACCTTGAGCAAGTCAGGTCTCTCCGGAGCTTCAGCTTCCGCGTATGGTAAATGGAGATGACAAGGCCCATCTCTAGACTGCAAAGGCTCAGTGAGGACTGTGCATGGCCTGGCACCTTGTGGGCAAGATCCTGGGTGGAGACTCAGGAATTCTGGATTACTGGCCCATCTGGACCCTGGTGAACTGGGCCACCTGCTCCAGGCCAGGCCTCAAGGACACGAAGATGAATTACAACAAGTCCCCTGGCTTTGAGGTGTCCATAAGCCCAGGGGGAGAAAGTATCCAAACAAATGATCATGTTACTCTGTGACCAGTGCTCTGATGGGCACAGGAGGGGTCAGGGAGAAACACTGTGTGATGGTTTTTGAGCCAGGCCTTGAAAGGAAAGAAACTCCTAGAGGAGGGTGAGGGGCATCCTGGGCAGAGAGGGTGCAGCGCGAGCAGAGAGGTGGAGGCTCTGGAACAGTAGAATGCTTGTGGAGACGGCAGGAAGACCACAGCAAAGGGAAGGCAGGAGCCAGGTCTGGAGGCTTGGTTTCAGGCTTCTGGGTGTGGAGCGCCATGGGAACTGGATGAATAGTGCGTTGCAGGTCCATGCACTTGTCAGTTTGTTCATTTCCTGGAGGCTTCTAGCCCTGGGTGTCCATGGCCCTTGCAGATACTTGCTGGTCAGGAATGAGCCTTCTGAGGCAAGACTGCTGGATTGTCCAGGCAGGGCTATTGATGCCAGCCCCTTAACTTAATTCTGCCCAGACAAGAAGATGTTTGAGGTGAAGCGGCGGGAGCAGCTGTTGGCACTGAAGAACCTGGCACAGCTGAACGACATCCACCAGCAGTACAAGATCCTTGATGTCATGCTCAAGGGGCTCTTTAAGGTGTGTGCAGGCAGGGGGCAGCTCATGGCAGGTCCAGTCTTTGATCTAGGCACTGATGGGTAAACAGGAGTTCCCTAACGGGTTGGTGTTCAGGGACAGGGGAACTGCGCACACGTAAGACTTGAAGTGGGGTTTAAATAAATGGGGATGGGAGCAGTCTGTGATGGGCACTGCGAAGCCACTCAGCCCTGGCGGGATTCCCTCAGGTGCTGGAGGACTCCCGGACAGTGCTCACCGCTGCTGATGTGCTCCCAGATGGGCCCTTCCCCCAGGACGAGAAGCTGAAGGATGGTATGGTCTGCCCTGCCCCGCCCTGTCCTCCGCACCACCCGATCTTCTCTAGCTGCTCCTTCTCTCCTGTTCTTGTCACTCTTTTTTTCTCCCCGGAAGTGCCCTCTTGTGGCACCTTCTAAGTGGTCCCCTTGGGCAGATGGGCGTTTCGTGAGTGGCCTCCCTAATTAACTGGCTACTTTTTAGCAATAGCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCAGGCTGGAGTACAGTGGTGTGATCTCGGCTCACTGCAACCTCCACTTCCCGCGTACAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCGCCACACCCAGCTAGTTTTTGTATTCTTAATAGAGACGAGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGCGCTGGGATTACAGGCGAGAGCCACTGCACCCGGCCACAATAGCATTTCTTAGATTACACTGAGAGGATGCGGACAGCTCTTATATATTAAATAGTAGATACTTTACAACCATGAACTCAAATCTCCACCATAACTCTGGGGGAAGACACTGTTCTCTCTACTTTCTATATGAAAGAGGACA 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CAAGACCAGCCTGGCCAACATGGCAAAACCCCGTTGCTACTAAAAATACAAAAATTAGCTGTGTGTGGTGGCAGGCAACTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGGAGAATCGCTTGAACCCAGGAAGCGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCTCTCCAGACTGGGCAACAGAGCAAGACTCCGTCTCAAAAAAACAAAACAAAACAAAAACTAGTGCCTTCAACTGGGGAATACCTGGCTCTTAGTTAAAAGCATGAGAAATTTCCTGGTTAAATGGAACAATTCAGACACATCAAGAAAAGCCCGAAGTACAGAATCAAGTTATACTAGAGGAAAACATTGTTTTTCTAGGCCCTCAAGACAGAATATTTGAGTGTCAGGCCGTAACAGCAGAGTTAGAACCAGAGAAAAAAGCTATAGTAGCCGGGTGCAGTGACTCACACCTGTATCCCAGTACTTTGGGAGGCCAAGATGGGTGGATCACTTGAGCCCAGGAGTTCAAGACTAGCCTGGGCAATGTAGCAAAACCCACGTCTAAGAAAAATACAAAAAATAGCCGTGCATGGCGGCATGCACCTGTAGTGCCAGCTATTCAGGAGGCTGAGGTGGGAGGATGGCTTGAGCCTGGGAAGTGGAGGCTGCAATGAGCCATGACTGTGCCACTGCACTCCAGCCTGGGCAGCAGAGCAGGACCCTGTCTCAAAAAAAAAAAAAAAAATTACAGGAACTAACAAAAAACATTTAAGAGAATTACCACCCCAGCCAAGTGAAAAGATGCATCCTTTCAAGGGGAGAAAGAGGAAGGGTGGAAGGCAGCAATGTATGTCCTGGGAATCACCAGGAAAGTGAACTTCACAGTGCTCAATAAATAATTGTGTTGGCTGGGCATAGTGGCTCACGCCTGTAATCCCAGTATTTGGGAGGCTGGGGCGAGAGGATCTCTTGAGCTCAGGAGTTGGAGACCAGCCTGGGCAATATAGCAAGACCTCATCTCTACTAAGGAAAAAATAAATAAAAAGGGCCGGGCGCGGTGGCTCACATCTGAATCCCAGCACTTTGGGAGGACAAGGCAGGCGGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGGCCAATATGGAGAAACCCCGTCTCTACTGAAAATACAGAATTAGCTGGGCATGGTGGCGCATGCGTGTAATCCCAGCTACTCAGGAGGCCGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCATTCCACTCCAGCCTGAGCAACAAGAGTGAAACTCCATCTTAAAAAAAAAAAATTAAATTAAAATAAATAAATAATTGTTGCATGTTGCCTGAATATGAACAGGTATTCTATGTAGTACCTATGGTTCCAAAGTGAGTGAGTAGCAAGCCCCCTTACCCCGAGACTGCCCTGCCTTCCTCCCTGCCCTTTGTCCCTTCTTACTTTCTGATGACAAAAGTCAAGGAAGGAGGAAAACTCCAGAAGTTTCATATCTTCTCTGCCTGGGCTTCCTTGACCAGATGCTTTCCTGGGAGACCAGGATAGGGGATGTGGAAGGAATACTGTTGACGAGCCCCTCCTCCCCAGGCACAGTGCCTCACCCAGACCTCCCTCCCTGCAGCAGGGAGGTGACCTCCTTATCCCTGTTCTACAGCTGAGAAGGCTGAGGCTCAGAAAGGCTGGGCAAGCTGCTCGAGGTCCCAGAGACGGGCGGGGGCAGGGCTCCAGCCTAGAGCTCTAGCCACTGACCCTGTGCTCTAAGTGTTCCTGTGTTACACACACTTATCTTTCTCCCCACCTCCTAGCATCCCACGGCTCTGTATTGTGTGCCTGCTGGCCCTGGGATAAGAGCTGCAGCTTCAGGGCTCCCCAAAGCTGGGTTCTTGGTATACAGAGGCTGCACTATGTCGGGGGAAGCTGCTGTTCACCTGTGCACTCTATTTTATGTAACACCGATCTCTGAGTCTCACTCTCTTTCTTTGGGTTATTCTTCCAGCTCAAGAGGTTTGGATACGGACCTTCTTCAATTCCTGGCCTTCCTCTTTGTCCTGCTTTTGTCTGGGATGGGAGCCACAGGCACCTTGAGGACCTCCCTGGACCCAAGCCTGGAGATCTGTATCCTTTGGGGTTGTAGTTAATGAGCTGTCTTTGAGAGGTCTATAAATGAGGTTCTTCTACTCAGGGATTCCAGGGATAAGCAGGCCCAGCTGGCGGGAACAGGGAGAAAAGGTGAGGTGCTCTAGCCAGACCTTGAGCAAGTCAGGTCTCTCCGGAGCTTCAGCTTCCGCGTATGGTAAATGGAGATGACAAGGCCCATCTCTAGACTGCAAAGGCTCAGTGAGGACTGTGCATGGCCTGGCACCTTGTGGGCAAGATCCTGGGTGGAGACTCAGGAATTCTGGATTACTGGCCCATCTGGACCCTGGTGAACTGGGCCACCTGCTCCAGGCCAGGCCTCAAGGACACGAAGATGAATTACAACAAGTCCCCTGGCTTTGAGGTGTCCATAAGCCCAGGGGGAGAAAGTATCCAAACAAATGATCATGTTACTCTGTGACCAGTGCTCTGATGGGCACAGGAGGGGTCAGGGAGAAACACTGTGTGATGGTTTTTGAGCCAGGCCTTGAAAGGAAAGAAACTCCTAGAGGAGGGTGAGGGGCATCCTGGGCAGAGAGGGTGCAGCGCGAGCAGAGAGGTGGAGGCTCTGGAACAGTAGAATGCTTGTGGAGACGGCAGGAAGACCACAGCAAAGGGAAGGCAGGAGCCAGGTCTGGAGGCTTGGTTTCAGGCTTCTGGGTGTGGAGCGCCATGGGAACTGGATGAATAGTGCGTTGCAGGTCCATGCACTTGTCAGTTTGTTCATTTCCTGGAGGCTTCTAGCCCTGGGTGTCCATGGCCCTTGCAGATACTTGCTGGTCAGGAATGAGCCTTCTGAGGCAAGACTGCTGGATTGTCCAGGCAGGGCTATTGATGCCAGCCCCTTAACTTAATTCTGCCCAGACAAGAAGATGTTTGAGGTGAAGCGGCGGGAGCAGCTGTTGGCACTGAAGAACCTGGCACAGCTGAACGACATCCACCAGCAGTACAAGATCCTTGATGTCATGCTCAAGGGGCTCTTTAAGGTGTGTGCAGGCAGGGGGCAGCTCATGGCAGGTCCAGTCTTTGATCTAGGCACTGATGGGTAAACAGGAGTTCCCTAACGGGTTGGTGTTCAGGGACAGGGGAACTGCGCACACGTAAGACTTGAAGTGGGGTTTAAATAAATGGGGATGGGAGCAGTCTGTGATGGGCACTGCGAAGCCACTCAGCCCTGGCGGGATTCCCTCAGGTGCTGGAGGACTCCCGGACAGTGCTCACCGCTGCTGATGTGCTCCCAGATGGGCCCTTCCCCCAGGACGAGAAGCTGAAGGATGGTATGGTCTGCCCTGCCCCGCCCTGTCCTCCGCACCACCCGATCTTCTCTAGCTGCTCCTTCTCTCCTGTTCTTGTCACTCTTTTTTTCTCCCCGGAAGTGCCCTCTTGTGGCACCTTCTAAGTGGTCCCCTTGGGCAGATGGGCGTTTCGTGAGTGGCCTCCCTAATTAACTGGCTACTTTTTAGCAATAGCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCAGGCTGGAGTACAGTGGTGTGATCTCGGCTCACTGCAACCTCCACTTCCCGCGTACAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCGCCACACCCAGCTAGTTTTTGTATTCTTAATAGAGACGAGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGCGCTGGGATTACAGGCGAGAGCCACTGCACCCGGCCACAATAGCATTTCTTAGATTACACTGAGAGGATGCGGACAGCTCTTATATATTAAATAGTAGATACTTTACAACCATGAACTCAAATCTCCACCATAACTCTGGGGGAAGACACTGTTCTCTCTACTTTCTATATGAAAGAGGACA 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Task1_train_28868 | A change on Chromosome 22 affects gene NAGA (alpha-N-acetylgalactosaminidase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Alpha-N-acetylgalactosaminidase deficiency | TGTGCATATGTAAGTTTTTACACCATACCCTAAATACAAGGACCTCAGAACCCTGAGGAGTATGGGAGATCCACCCAGAAAATACTCCTTGGGCAGCACAGTGCAAGGCCTGGGGCACTGGGTGCTCCTGCATTCAAAGCCCAAGGAGGACCTAGCTAGGTTGCTCTGCCACTAGCTCTCTCCAAAGGGGAGAGCCACCAGGGAAGACAAGTGCCCTGTAGCCTTGGCTAAAAGAGGAGGGCTTGGGAAATACGGACCAAAGCAAGACAGGCAAGAACCCATCATTCCTTCACTTTGACTGTTACCCCTGTCCTTAGGAAGAGGGACAGGAAATCAATTTTAAGACACAACTCCTGGACAGGTTTGTGGACACATCTGGGGAATATGAACCTCCTTTGCAGCCAGGTTGGGAGAGAAATAAAGGAAAAGAAGTAGGGGTTGGGGTGGAGCCACCAGAGAGAAGAGCAGGCTGAGGTGCTGGGCCAGGGGCACTGCTGGGCAGAGCACAAGCTGCAGGACCTGGGAGCATTGCTACTTGGCCTCATTGTGTTGTCACCATCACCACTGCCAGCATACCAGGCACAGCAGGGGCAGCTCCTGGGTGTGAGGCAAGTCTGGCATCTCTAGGAAGTACAATCTTCTGGTCACTTTGGAAAAGGAGGGGCCAGACGATGCCAGACATCATCCATAGAGGTGAGATTTGAATCCAGCACCCCGTGTAGTGCCACCAGAGTCCCTAACTAAAGGTACCCCAGGTCCATATTACAACTACTTGATTAAAGAACAGGTTTATTGGTGACCTGAGGGAGCCAAGGTCTCCTTTGTGACCCTCACTCCCAGGTGGTATCAGGCTGCAAGGCCCTCTATGGGTAGAAAAGCCAATCACATGATCCATGGGCATTCCTGGCAAGAGGTCAGATCTCTCTACTCCTAATTCGAAAACTTCCAAATCCTGATTTCAGAGTCAACAGCAAGGTCAGAGGCTAGAGTCCTGATGGGCATGGAGCTCAGGAGGCTGGCGAGTTGCTCAGCAACGTCTGTGGGGCTGCGCACATGGAAGTAGAGGCCAGGAAGGCCACAGGAAAATTGCCCCAAAAGAAGTTTCCAAGAGGGTTTACGCTTGGACAGGGCATAGAACCTGGCCGTGAGATTGCACTTTGGGTATGATGGGGTCAGTCACCGAGCAGGCCTGGGGAGCAGAGAACCTCCCCACTTGCCCTGGGCATGCCAAGGCTCCATGGTCTAGGCTCAGTGGTGCCACCACAGCCTGTCACATGTCCCAGCTCCTCACTGCTGGGACATCTCCAGGTTCTTGATGGGATACAGGTACCACATCACTACCCCTGAAGGGTTGATGATCACTGTGAAGTTGGTTTCATCTCGGAGGCCACTGATGATGTCACCTGAGTAGACGTCCTGGGCCTGCAGTGGGGAGGGACATCACCAATGCCACCATGAGAGTGGCGGCACAGAGACCCCCCCCGCTAGAGGATGTAGAAGCCTTCTGCCTGGACTTTGGCCTGTCTGTGCTGGGCTTCCAGTATGCCCTACAGAAGTGGGAGCCCTGAATCCCCATCACTTCTCCACCAGCAAATCCAGCAGGTGCCCAAGCACGGGCAGTGGAGAAAGCCCCAGCCCATGGAAAACTGTGAGGAACGTGCCAGCAAGGGCTGACCCTTGGGAGGAGTACAGCCGTAGAGGCTAATGGGATTCATATTTATATGCAGTAGTTCTGTTTGCATAGGTTGAAAATACTGGTGCAGAGCACGGCACTGGCTGCAGCTCTCAGTGCCTGCAGCTCCCCATGGGCACCTGCCAGAGGCCCTAAGCCCACGGCTCAGGGGAGGCCATATGTGAACAACCACCCCCCATAATACCCTCCCACAGAAATCTGAAGCCCAGGCGGGTGGCTGCAGGCAGCCGGGTGCTCACCTCATATATCACAGACCCGGTGAAGTTCAGCTGGCCAAGGGAGGAGTGGTAGCGATAAGGCATATCGGTCCTGCAGCTGAAGAAGACTAAGGCGCTAGCCTTGTTGGACAGAGGCCGCATGTACACTTCGATGAGAGATTTTTCCTGGGCACAGAAGGTGGCTACTGGCTGGGGTCCCTTGCTCAGACAGGACCTACCATTGCCTCCCTGGCCCTCCCTGAGTTCTGGGTCCCCCAGTTCACAGCTCCATGTCACACAGGTTTAGGGAGGATGCCACGGGCCTCCAGCACCCCAGCTTATCTAACCCTATCTGCCCACCTTCCCTGACTCAGCAGATACTCATCAACACCTACTCTGAGCCCGGCCCCTATGCTAGCACACTGAGACAAGTGCTGCATGAGGCCCTGCCCCAGAAGCTCATAGGACAACGGGAGGGATAAACGCAGAAACAGGGAAGCGCAACAACAGTACAGCGTATGAGTGCTGGCCCCAAACAGCTGCCAGTGCTGGCCTGGAGGGTGCTGTCCAGTGGGAACAGTGAACTCTGTTCCAGGAGGGTGGAGAGTGGAGCTGGATGTGAACTCCCATCCTCCAGAAGGTTTTCCAGGCCCAGCTCCACCATCAGCCCCTCTGGCAGGGAATTGTTACTTCCTCTGGGCATCACCAGTTCTATAGGTGCCTTCCATAGTTCTGTAGGTTTCTTTTTACCAGAATCCAGGATTTGGTAAAGAGCAAAGGCAGACAGGCACAGTGGCTCATGCCTGTAATCCCATTACTTTGTGAGGCCGAGGCCAGTGGATCAGCTGACGTCAGGAGTTTTGAGAGTAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTGAAAAAAATACAAAAAAAATTAGCCGGGTGTGGTGGCGCACACCTGTAATCCCAGCTACCTGGGAGGCTGAGGCAGGAAAATCGCTTGAACCTGGGAGCCAGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTGGGCTACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAGGCTTTGAGGTGACACTGAAGTCCAGTCTTGTTTGTACCAACTGTGTAGCCTTGGGATAAAGTTACTCAGACTCTCGAAGTTTCATTTTTCTCATTTGTAAAATGGCAAGATAACTACCTTGCTGAGAAAAATTATCTAAAACTCCCAGCACATGGTAGGTACTCAATAAATAGCAGCCACCAGTAGTCGTAGTATTCCTTGGCTATAACAGCTTCTCCTGGCCGAGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGATACGGGTGGATCACCTGAGGCCAGGAGTTCGAGACAAGCCTGGCCAACATGGTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAGTGCCAGCTACTCAGGAGGCTGAGGCACGAGAATTGCTTGAACCTGGCAGGTAGAGATTGCAGTGAGTCGAAATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAACAAACAGACCAGCTCCTCCTGCTCTGGAGGGAAGTCCAAGCTCTCTGCAGGCCATCACGGGTGTATAGAAGCTCTGTGCCTCACCCTTGCTATGTGCACTTATGTGGCTGACACCTCTCATCCCCGACTCCCTTGAGCTGTCCTGCTCAGCCCTGCTCTCACCCAGCAAGAGGAGGACAGTTGGAGCAGCTCCCATCAGAGTCCTCAACCATAAGCAACCAGAAGGGGTAGCCCTGGTTGGGGACTGGGCGACTCCTGTACCTCGCCAGGTGTTGCCCCCAGGGAGGCTGGCAGCCTTTCTCTCAGGAGAACCCAGTTCCTCAGCCCTCCCCTTCCTTCCCTCCACACCCTAGTACCTTGTGAATCCTGCGTCCCTGGATGCCTAAGGGATCCTGGTTGATTTTGATCATGAGTGGATTCTGCAGAATGTCCATGTTCTGGGCGGAGATGGTACGCAGGTCTGTGGACATCAAGAGGGGGGCTGCCAGCACCGTCCACAGGGCCATCTGGGCCCGGGATTGCTCTAAGCTGAGACCAAAGTTCCCAATGAGCAGCTGGGGGCAGAGAAGAGGAGTAGTCAGCTCTCATCTCCTCAAGGAGGTAGACACAGGGACCAT 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TGTGCATATGTAAGTTTTTACACCATACCCTAAATACAAGGACCTCAGAACCCTGAGGAGTATGGGAGATCCACCCAGAAAATACTCCTTGGGCAGCACAGTGCAAGGCCTGGGGCACTGGGTGCTCCTGCATTCAAAGCCCAAGGAGGACCTAGCTAGGTTGCTCTGCCACTAGCTCTCTCCAAAGGGGAGAGCCACCAGGGAAGACAAGTGCCCTGTAGCCTTGGCTAAAAGAGGAGGGCTTGGGAAATACGGACCAAAGCAAGACAGGCAAGAACCCATCATTCCTTCACTTTGACTGTTACCCCTGTCCTTAGGAAGAGGGACAGGAAATCAATTTTAAGACACAACTCCTGGACAGGTTTGTGGACACATCTGGGGAATATGAACCTCCTTTGCAGCCAGGTTGGGAGAGAAATAAAGGAAAAGAAGTAGGGGTTGGGGTGGAGCCACCAGAGAGAAGAGCAGGCTGAGGTGCTGGGCCAGGGGCACTGCTGGGCAGAGCACAAGCTGCAGGACCTGGGAGCATTGCTACTTGGCCTCATTGTGTTGTCACCATCACCACTGCCAGCATACCAGGCACAGCAGGGGCAGCTCCTGGGTGTGAGGCAAGTCTGGCATCTCTAGGAAGTACAATCTTCTGGTCACTTTGGAAAAGGAGGGGCCAGACGATGCCAGACATCATCCATAGAGGTGAGATTTGAATCCAGCACCCCGTGTAGTGCCACCAGAGTCCCTAACTAAAGGTACCCCAGGTCCATATTACAACTACTTGATTAAAGAACAGGTTTATTGGTGACCTGAGGGAGCCAAGGTCTCCTTTGTGACCCTCACTCCCAGGTGGTATCAGGCTGCAAGGCCCTCTATGGGTAGAAAAGCCAATCACATGATCCATGGGCATTCCTGGCAAGAGGTCAGATCTCTCTACTCCTAATTCGAAAACTTCCAAATCCTGATTTCAGAGTCAACAGCAAGGTCAGAGGCTAGAGTCCTGATGGGCATGGAGCTCAGGAGGCTGGCGAGTTGCTCAGCAACGTCTGTGGGGCTGCGCACATGGAAGTAGAGGCCAGGAAGGCCACAGGAAAATTGCCCCAAAAGAAGTTTCCAAGAGGGTTTACGCTTGGACAGGGCATAGAACCTGGCCGTGAGATTGCACTTTGGGTATGATGGGGTCAGTCACCGAGCAGGCCTGGGGAGCAGAGAACCTCCCCACTTGCCCTGGGCATGCCAAGGCTCCATGGTCTAGGCTCAGTGGTGCCACCACAGCCTGTCACATGTCCCAGCTCCTCACTGCTGGGACATCTCCAGGTTCTTGATGGGATACAGGTACCACATCACTACCCCTGAAGGGTTGATGATCACTGTGAAGTTGGTTTCATCTCGGAGGCCACTGATGATGTCACCTGAGTAGACGTCCTGGGCCTGCAGTGGGGAGGGACATCACCAATGCCACCATGAGAGTGGCGGCACAGAGACCCCCCCCGCTAGAGGATGTAGAAGCCTTCTGCCTGGACTTTGGCCTGTCTGTGCTGGGCTTCCAGTATGCCCTACAGAAGTGGGAGCCCTGAATCCCCATCACTTCTCCACCAGCAAATCCAGCAGGTGCCCAAGCACGGGCAGTGGAGAAAGCCCCAGCCCATGGAAAACTGTGAGGAACGTGCCAGCAAGGGCTGACCCTTGGGAGGAGTACAGCCGTAGAGGCTAATGGGATTCATATTTATATGCAGTAGTTCTGTTTGCATAGGTTGAAAATACTGGTGCAGAGCACGGCACTGGCTGCAGCTCTCAGTGCCTGCAGCTCCCCATGGGCACCTGCCAGAGGCCCTAAGCCCACGGCTCAGGGGAGGCCATATGTGAACAACCACCCCCCATAATACCCTCCCACAGAAATCTGAAGCCCAGGCGGGTGGCTGCAGGCAGCCGGGTGCTCACCTCATATATCACAGACCCGGTGAAGTTCAGCTGGCCAAGGGAGGAGTGGTAGCGATAAGGCATATCGGTCCTGCAGCTGAAGAAGACTAAGGCGCTAGCCTTGTTGGACAGAGGCCACATGTACACTTCGATGAGAGATTTTTCCTGGGCACAGAAGGTGGCTACTGGCTGGGGTCCCTTGCTCAGACAGGACCTACCATTGCCTCCCTGGCCCTCCCTGAGTTCTGGGTCCCCCAGTTCACAGCTCCATGTCACACAGGTTTAGGGAGGATGCCACGGGCCTCCAGCACCCCAGCTTATCTAACCCTATCTGCCCACCTTCCCTGACTCAGCAGATACTCATCAACACCTACTCTGAGCCCGGCCCCTATGCTAGCACACTGAGACAAGTGCTGCATGAGGCCCTGCCCCAGAAGCTCATAGGACAACGGGAGGGATAAACGCAGAAACAGGGAAGCGCAACAACAGTACAGCGTATGAGTGCTGGCCCCAAACAGCTGCCAGTGCTGGCCTGGAGGGTGCTGTCCAGTGGGAACAGTGAACTCTGTTCCAGGAGGGTGGAGAGTGGAGCTGGATGTGAACTCCCATCCTCCAGAAGGTTTTCCAGGCCCAGCTCCACCATCAGCCCCTCTGGCAGGGAATTGTTACTTCCTCTGGGCATCACCAGTTCTATAGGTGCCTTCCATAGTTCTGTAGGTTTCTTTTTACCAGAATCCAGGATTTGGTAAAGAGCAAAGGCAGACAGGCACAGTGGCTCATGCCTGTAATCCCATTACTTTGTGAGGCCGAGGCCAGTGGATCAGCTGACGTCAGGAGTTTTGAGAGTAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTGAAAAAAATACAAAAAAAATTAGCCGGGTGTGGTGGCGCACACCTGTAATCCCAGCTACCTGGGAGGCTGAGGCAGGAAAATCGCTTGAACCTGGGAGCCAGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTGGGCTACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAGGCTTTGAGGTGACACTGAAGTCCAGTCTTGTTTGTACCAACTGTGTAGCCTTGGGATAAAGTTACTCAGACTCTCGAAGTTTCATTTTTCTCATTTGTAAAATGGCAAGATAACTACCTTGCTGAGAAAAATTATCTAAAACTCCCAGCACATGGTAGGTACTCAATAAATAGCAGCCACCAGTAGTCGTAGTATTCCTTGGCTATAACAGCTTCTCCTGGCCGAGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGATACGGGTGGATCACCTGAGGCCAGGAGTTCGAGACAAGCCTGGCCAACATGGTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAGTGCCAGCTACTCAGGAGGCTGAGGCACGAGAATTGCTTGAACCTGGCAGGTAGAGATTGCAGTGAGTCGAAATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAACAAACAGACCAGCTCCTCCTGCTCTGGAGGGAAGTCCAAGCTCTCTGCAGGCCATCACGGGTGTATAGAAGCTCTGTGCCTCACCCTTGCTATGTGCACTTATGTGGCTGACACCTCTCATCCCCGACTCCCTTGAGCTGTCCTGCTCAGCCCTGCTCTCACCCAGCAAGAGGAGGACAGTTGGAGCAGCTCCCATCAGAGTCCTCAACCATAAGCAACCAGAAGGGGTAGCCCTGGTTGGGGACTGGGCGACTCCTGTACCTCGCCAGGTGTTGCCCCCAGGGAGGCTGGCAGCCTTTCTCTCAGGAGAACCCAGTTCCTCAGCCCTCCCCTTCCTTCCCTCCACACCCTAGTACCTTGTGAATCCTGCGTCCCTGGATGCCTAAGGGATCCTGGTTGATTTTGATCATGAGTGGATTCTGCAGAATGTCCATGTTCTGGGCGGAGATGGTACGCAGGTCTGTGGACATCAAGAGGGGGGCTGCCAGCACCGTCCACAGGGCCATCTGGGCCCGGGATTGCTCTAAGCTGAGACCAAAGTTCCCAATGAGCAGCTGGGGGCAGAGAAGAGGAGTAGTCAGCTCTCATCTCCTCAAGGAGGTAGACACAGGGACCAT 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Task1_train_28869 | Located on Chromosome 22, this mutation impacts NDUFA6 (NADH:ubiquinone oxidoreductase subunit A6). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 33 | TGGCCTGGGCGCGGTGGCTCACGCCAGCACTTTGGGAGGCCACGGCGGGTGGATTACTTGAGGTCAAGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTTTTCTAAAAATATAAAACTAGCTGGATGTGGTGGTCCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGGAGAATTACTTGAACCAGGAGGTGGAAGGTGCAGTGAGCCAAGATCACACCAGTGCACTCCAGCCTGGGCAACAACAGCGAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAGACCAGCCTGGGCAATGGAGAGACGCCATCTCTATTTAAAAAAAAAAAAAAAGTATGGGAGTCCTCAGTGATCATACCTATAGATTCCAAACCCCTTCTCCATCATTTGGATTGCCCTGGGAAGCACAAGAGAAGACCACCATCCAAACAGAGATCAGTTCTTGAACCTGTGTTGATGTTTATTCTGCCACTGAGAGGTACACCAGGGTTTCCAAAGACAGTAGGAATATTTCTGTTCTCTGTGTATATTGAACAGCTGTGCACCTAAGCAGGGTGCCTGAGTAGGAAGTTAATTTCATTTTAAGGGCTGGAGCTTGTTACAAGTAGCGGAGCCAAGCCTTTGCACATCCATTTTCTTCAGAACCCAAGGAAAACTAGCCCATCTTGACAGCTCTACTTTTGCGCCTGTTAGTGCTGCCCTGATCCCTGACAGGAAGAGCTGGCTAATTTTAGATAATCTGTGCCCTGACACTGAAGTGTCTAATCATAGGGGCTATAGAAACAACTACATTAACAAGTCGTCCAGCCTCATGCCCAATGTCACAATTTTTGAACAGATGGCCTCCTTCCTTCCTGTTTACTGACATGCAAGGCTCTGAGAAAAATAATTCAATCCAATTTACAGCAAACACCACATTTCAAGAAAAGGGAAAGAACAGGTGATGTGTATACCAAGGTCCCACTTGCTCAGGCAAAAAGAGGCTGCAGAAAATTGGTTCATCAATGGAATTCTATCACAAAGTGACCATTGTATAGTGAGTTTATTTGTGCTCTAAAATAGTATCAACGTGCATCTTTCCACTGAATGACTTCATGGATCGTGGCCAACATAGAACTTGGATAGGAAATCCTTTGGCCTTGGCGCTTCTGTTTCATGGAAGAACCGCATAACATGTGTCCGCTGCTTCCATACTTTAATTGTTTCTTCCAGTTCGATCTTTCCCTGAACAGTGAGGAGAGAGGTCATCAGTCAAAGTTGTCAAGTTGAAGGCATATGACACTGAAGGCCAGGATTCTATTCTCTGCTCAGCATGGACTTGTTGAATGACCTTGGGCAAGTAACTACTCTGTCTGGGCAAAGTTTCTATGTCTGGACAATGAGGTGGTCAGGGTAAATCATTTCTGACACTTTTCAGATTCTTTAACTCTGTGGTTAACTGGTACCAAGAGGAGAAACATACAGGTTAACAGGCTCCTATCCCATGACTACCTAACCTGACTGGCTTAACTTATGTTTCTGCTTATCATTTCTTCTGTTACTGACTGGTCTATGCTGAAGCTCCCATTGATGCTAACGTGACTGGCCAGGGGGACAGAATCAGCCCCAGGATTTGAGTCCATTTATACAGGACTCATAACCACCCTAACTGCCTCTTCCAGCTGTAAACTGGCATTCAGATGAAGTGGTAACTTCTAGGGATGAGGTTCAAGAAGAGTTCAAACTTTCCTCCCTATATCTTTTTTTATGGTTATAAAATGCAAGTCCCAGTGGATGTTCCCTTGATGAATCTTATCTATTTAACCAGATGATAACCTCCAAGTTCAAGTATTTCTCTGAAACACAGCAATAATCACTGCCGAACCAGTAGCTGCTTTCTAAACTTGGAGACAAAATGTTCATTTGGAAAGACTAAGAAGTAGTGGACAAGTTGGCTGATCTTTTAAATTGGTCAGGGAGGGTCAGTTACCTTAATGACCAGAAGATCAACCACCCTGGGGTCTGTGACATGGGCATTCTTCATAAACATTTCTCGGACTTTATCCCGTCCCATTTTCACAGTGATGTCCAGCTGGAATTGGTGCACTAGAGAGAAAAACATGACTCAGGGTAGAAATTGTATGGTTAAATAAAACCTAGAGTCAAATGATACTCATTGAACACATACAGGTCGCCCATTCATTTCTTCACCAAAAAATTAGCCTGACCCTAGGCTAGGTGCTTGAGGATGAGACATGTGATTCATGGTATTTGCTCTCAAGGAACTTATTATTTGTTTGGGGAAAAAGACCACTGAATTTGAAGAGGCAGTAAAGCATTGTTCAAGAGTTTGAACAACCTGGGTTCAAATCCCAGCTTTTGTTAGCTATATGATCCCGTGTAAGTTAACTTTCTTGTGCCTGAGTGTATTTTTTAAAAAATTATTTTATGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGATCGAGACTACCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGTGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGTGGACCTTGCAGTGAGCCGAGGTCGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAATAATAATTATTTTATTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACTAAAAATACAAACATGAGCCGGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGGTGCAGTGAGCTGAGATGGGCCACTGCATTCCAGCCTGGGTGACAGAGTGAGACTGTGTCTCAAAAAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAATAATTATTATTTTATTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACAGCCTGGCCAACATGGTGAAACCCCGTTTCTACTAAAAATACAAAAGTTAGCCAGGTGTGGTGGCACGCAACTATAATCCCAGCTACTCGGGAGGCTGAGGCATGGGGAAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCATTGCCCTCCAGCCTGGGAGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGTGAGTTATCATTACTGTTTTTTTCATTAAATACTTAAAATTTTACTTTTGTTTTTTATTAATGCTCAGGCTGTTCTAAGTTCTCAACACTATTACTTATTCCCCTTCCTTGATTTGATTCCTCAGCTGGAGTCCTGATGATGGATACCATAAAACCCGTGTGGCACAGGTTTGAGTAACTGGCCAGCTACAGATCACTGATCTTCCCCATAGGGATGCATACTCCTTGACCCCTTCTTTTCTCTCCTCTTCCCTTGCTTTCTAGGCTCCTGTAGCCCTCTGCCTTCTTTTCCTCCTCTCAAGACCCTTCTGACTTTGGGACTTTCTTCCCAAAACAGAATTTGAGGGAAGGTCTTGGGAGGGGTCGGTTTAGAAAGAGCTGGATCCTCAGAGTCAGGATACCTGGGTTCTGTCTTCTACTTGGCCAC 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TGGCCTGGGCGCGGTGGCTCACGCCAGCACTTTGGGAGGCCACGGCGGGTGGATTACTTGAGGTCAAGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTTTTCTAAAAATATAAAACTAGCTGGATGTGGTGGTCCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGGAGAATTACTTGAACCAGGAGGTGGAAGGTGCAGTGAGCCAAGATCACACCAGTGCACTCCAGCCTGGGCAACAACAGCGAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAGACCAGCCTGGGCAATGGAGAGACGCCATCTCTATTTAAAAAAAAAAAAAAAGTATGGGAGTCCTCAGTGATCATACCTATAGATTCCAAACCCCTTCTCCATCATTTGGATTGCCCTGGGAAGCACAAGAGAAGACCACCATCCAAACAGAGATCAGTTCTTGAACCTGTGTTGATGTTTATTCTGCCACTGAGAGGTACACCAGGGTTTCCAAAGACAGTAGGAATATTTCTGTTCTCTGTGTATATTGAACAGCTGTGCACCTAAGCAGGGTGCCTGAGTAGGAAGTTAATTTCATTTTAAGGGCTGGAGCTTGTTACAAGTAGCGGAGCCAAGCCTTTGCACATCCATTTTCTTCAGAACCCAAGGAAAACTAGCCCATCTTGACAGCTCTACTTTTGCGCCTGTTAGTGCTGCCCTGATCCCTGACAGGAAGAGCTGGCTAATTTTAGATAATCTGTGCCCTGACACTGAAGTGTCTAATCATAGGGGCTATAGAAACAACTACATTAACAAGTCGTCCAGCCTCATGCCCAATGTCACAATTTTTGAACAGATGGCCTCCTTCCTTCCTGTTTACTGACATGCAAGGCTCTGAGAAAAATAATTCAATCCAATTTACAGCAAACACCACATTTCAAGAAAAGGGAAAGAACAGGTGATGTGTATACCAAGGTCCCACTTGCTCAGGCAAAAAGAGGCTGCAGAAAATTGGTTCATCAATGGAATTCTATCACAAAGTGACCATTGTATAGTGAGTTTATTTGTGCTCTAAAATAGTATCAACGTGCATCTTTCCACTGAATGACTTCATGGATCGTGGCCAACATAGAACTTGGATAGGAAATCCTTTGGCCTTGGCGCTTCTGTTTCATGGAAGAACCGCATAACATGTGTCCGCTGCTTCCATACTTTAATTGTTTCTTCCAGTTCGATCTTTCCCTGAACAGTGAGGAGAGAGGTCATCAGTCAAAGTTGTCAAGTTGAAGGCATATGACACTGAAGGCCAGGATTCTATTCTCTGCTCAGCATGGACTTGTTGAATGACCTTGGGCAAGTAACTACTCTGTCTGGGCAAAGTTTCTATGTCTGGACAATGAGGTGGTCAGGGTAAATCATTTCTGACACTTTTCAGATTCTTTAACTCTGTGGTTAACTGGTACCAAGAGGAGAAACATACAGGTTAACAGGCTCCTATCCCATGACTACCTAACCTGACTGGCTTAACTTATGTTTCTGCTTATCATTTCTTCTGTTACTGACTGGTCTATGCTGAAGCTCCCATTGATGCTAACGTGACTGGCCAGGGGGACAGAATCAGCCCCAGGATTTGAGTCCATTTATACAGGACTCATAACCACCCTAACTGCCTCTTCCAGCTGTAAACTGGCATTCAGATGAAGTGGTAACTTCTAGGGATGAGGTTCAAGAAGAGTTCAAACTTTCCTCCCTATATCTTTTTTTATGGTTATAAAATGCAAGTCCCAGTGGATGTTCCCTTGATGAATCTTATCTATTTAACCAGATGATAACCTCCAAGTTCAAGTATTTCTCTGAAACACAGCAATAATCACTGCCGAACCAGTAGCTGCTTTCTAAACTTGGAGACAAAATGTTCATTTGGAAAGACTAAGAAGTAGTGGACAAGTTGGCTGATCTTTTAAATTGGTCAGGGAGGGTCAGTTACCTTAATGACCAGAAGATCAACCACCCTGGGGTCTGTGACATGGGCATTCTTCATAAACATTTCTGGGACTTTATCCCGTCCCATTTTCACAGTGATGTCCAGCTGGAATTGGTGCACTAGAGAGAAAAACATGACTCAGGGTAGAAATTGTATGGTTAAATAAAACCTAGAGTCAAATGATACTCATTGAACACATACAGGTCGCCCATTCATTTCTTCACCAAAAAATTAGCCTGACCCTAGGCTAGGTGCTTGAGGATGAGACATGTGATTCATGGTATTTGCTCTCAAGGAACTTATTATTTGTTTGGGGAAAAAGACCACTGAATTTGAAGAGGCAGTAAAGCATTGTTCAAGAGTTTGAACAACCTGGGTTCAAATCCCAGCTTTTGTTAGCTATATGATCCCGTGTAAGTTAACTTTCTTGTGCCTGAGTGTATTTTTTAAAAAATTATTTTATGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGATCGAGACTACCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGTGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGTGGACCTTGCAGTGAGCCGAGGTCGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAATAATAATTATTTTATTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACTAAAAATACAAACATGAGCCGGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGGTGCAGTGAGCTGAGATGGGCCACTGCATTCCAGCCTGGGTGACAGAGTGAGACTGTGTCTCAAAAAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAATAATTATTATTTTATTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACAGCCTGGCCAACATGGTGAAACCCCGTTTCTACTAAAAATACAAAAGTTAGCCAGGTGTGGTGGCACGCAACTATAATCCCAGCTACTCGGGAGGCTGAGGCATGGGGAAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCATTGCCCTCCAGCCTGGGAGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGTGAGTTATCATTACTGTTTTTTTCATTAAATACTTAAAATTTTACTTTTGTTTTTTATTAATGCTCAGGCTGTTCTAAGTTCTCAACACTATTACTTATTCCCCTTCCTTGATTTGATTCCTCAGCTGGAGTCCTGATGATGGATACCATAAAACCCGTGTGGCACAGGTTTGAGTAACTGGCCAGCTACAGATCACTGATCTTCCCCATAGGGATGCATACTCCTTGACCCCTTCTTTTCTCTCCTCTTCCCTTGCTTTCTAGGCTCCTGTAGCCCTCTGCCTTCTTTTCCTCCTCTCAAGACCCTTCTGACTTTGGGACTTTCTTCCCAAAACAGAATTTGAGGGAAGGTCTTGGGAGGGGTCGGTTTAGAAAGAGCTGGATCCTCAGAGTCAGGATACCTGGGTTCTGTCTTCTACTTGGCCAC 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Task1_train_28870 | A variant has been detected on Chromosome 22 in NDUFA6 (NADH:ubiquinone oxidoreductase subunit A6). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Mitochondrial disease | TGGCCTGGGCGCGGTGGCTCACGCCAGCACTTTGGGAGGCCACGGCGGGTGGATTACTTGAGGTCAAGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTTTTCTAAAAATATAAAACTAGCTGGATGTGGTGGTCCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGGAGAATTACTTGAACCAGGAGGTGGAAGGTGCAGTGAGCCAAGATCACACCAGTGCACTCCAGCCTGGGCAACAACAGCGAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAGACCAGCCTGGGCAATGGAGAGACGCCATCTCTATTTAAAAAAAAAAAAAAAGTATGGGAGTCCTCAGTGATCATACCTATAGATTCCAAACCCCTTCTCCATCATTTGGATTGCCCTGGGAAGCACAAGAGAAGACCACCATCCAAACAGAGATCAGTTCTTGAACCTGTGTTGATGTTTATTCTGCCACTGAGAGGTACACCAGGGTTTCCAAAGACAGTAGGAATATTTCTGTTCTCTGTGTATATTGAACAGCTGTGCACCTAAGCAGGGTGCCTGAGTAGGAAGTTAATTTCATTTTAAGGGCTGGAGCTTGTTACAAGTAGCGGAGCCAAGCCTTTGCACATCCATTTTCTTCAGAACCCAAGGAAAACTAGCCCATCTTGACAGCTCTACTTTTGCGCCTGTTAGTGCTGCCCTGATCCCTGACAGGAAGAGCTGGCTAATTTTAGATAATCTGTGCCCTGACACTGAAGTGTCTAATCATAGGGGCTATAGAAACAACTACATTAACAAGTCGTCCAGCCTCATGCCCAATGTCACAATTTTTGAACAGATGGCCTCCTTCCTTCCTGTTTACTGACATGCAAGGCTCTGAGAAAAATAATTCAATCCAATTTACAGCAAACACCACATTTCAAGAAAAGGGAAAGAACAGGTGATGTGTATACCAAGGTCCCACTTGCTCAGGCAAAAAGAGGCTGCAGAAAATTGGTTCATCAATGGAATTCTATCACAAAGTGACCATTGTATAGTGAGTTTATTTGTGCTCTAAAATAGTATCAACGTGCATCTTTCCACTGAATGACTTCATGGATCGTGGCCAACATAGAACTTGGATAGGAAATCCTTTGGCCTTGGCGCTTCTGTTTCATGGAAGAACCGCATAACATGTGTCCGCTGCTTCCATACTTTAATTGTTTCTTCCAGTTCGATCTTTCCCTGAACAGTGAGGAGAGAGGTCATCAGTCAAAGTTGTCAAGTTGAAGGCATATGACACTGAAGGCCAGGATTCTATTCTCTGCTCAGCATGGACTTGTTGAATGACCTTGGGCAAGTAACTACTCTGTCTGGGCAAAGTTTCTATGTCTGGACAATGAGGTGGTCAGGGTAAATCATTTCTGACACTTTTCAGATTCTTTAACTCTGTGGTTAACTGGTACCAAGAGGAGAAACATACAGGTTAACAGGCTCCTATCCCATGACTACCTAACCTGACTGGCTTAACTTATGTTTCTGCTTATCATTTCTTCTGTTACTGACTGGTCTATGCTGAAGCTCCCATTGATGCTAACGTGACTGGCCAGGGGGACAGAATCAGCCCCAGGATTTGAGTCCATTTATACAGGACTCATAACCACCCTAACTGCCTCTTCCAGCTGTAAACTGGCATTCAGATGAAGTGGTAACTTCTAGGGATGAGGTTCAAGAAGAGTTCAAACTTTCCTCCCTATATCTTTTTTTATGGTTATAAAATGCAAGTCCCAGTGGATGTTCCCTTGATGAATCTTATCTATTTAACCAGATGATAACCTCCAAGTTCAAGTATTTCTCTGAAACACAGCAATAATCACTGCCGAACCAGTAGCTGCTTTCTAAACTTGGAGACAAAATGTTCATTTGGAAAGACTAAGAAGTAGTGGACAAGTTGGCTGATCTTTTAAATTGGTCAGGGAGGGTCAGTTACCTTAATGACCAGAAGATCAACCACCCTGGGGTCTGTGACATGGGCATTCTTCATAAACATTTCTCGGACTTTATCCCGTCCCATTTTCACAGTGATGTCCAGCTGGAATTGGTGCACTAGAGAGAAAAACATGACTCAGGGTAGAAATTGTATGGTTAAATAAAACCTAGAGTCAAATGATACTCATTGAACACATACAGGTCGCCCATTCATTTCTTCACCAAAAAATTAGCCTGACCCTAGGCTAGGTGCTTGAGGATGAGACATGTGATTCATGGTATTTGCTCTCAAGGAACTTATTATTTGTTTGGGGAAAAAGACCACTGAATTTGAAGAGGCAGTAAAGCATTGTTCAAGAGTTTGAACAACCTGGGTTCAAATCCCAGCTTTTGTTAGCTATATGATCCCGTGTAAGTTAACTTTCTTGTGCCTGAGTGTATTTTTTAAAAAATTATTTTATGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGATCGAGACTACCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGTGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGTGGACCTTGCAGTGAGCCGAGGTCGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAATAATAATTATTTTATTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACTAAAAATACAAACATGAGCCGGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGGTGCAGTGAGCTGAGATGGGCCACTGCATTCCAGCCTGGGTGACAGAGTGAGACTGTGTCTCAAAAAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAATAATTATTATTTTATTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACAGCCTGGCCAACATGGTGAAACCCCGTTTCTACTAAAAATACAAAAGTTAGCCAGGTGTGGTGGCACGCAACTATAATCCCAGCTACTCGGGAGGCTGAGGCATGGGGAAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCATTGCCCTCCAGCCTGGGAGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGTGAGTTATCATTACTGTTTTTTTCATTAAATACTTAAAATTTTACTTTTGTTTTTTATTAATGCTCAGGCTGTTCTAAGTTCTCAACACTATTACTTATTCCCCTTCCTTGATTTGATTCCTCAGCTGGAGTCCTGATGATGGATACCATAAAACCCGTGTGGCACAGGTTTGAGTAACTGGCCAGCTACAGATCACTGATCTTCCCCATAGGGATGCATACTCCTTGACCCCTTCTTTTCTCTCCTCTTCCCTTGCTTTCTAGGCTCCTGTAGCCCTCTGCCTTCTTTTCCTCCTCTCAAGACCCTTCTGACTTTGGGACTTTCTTCCCAAAACAGAATTTGAGGGAAGGTCTTGGGAGGGGTCGGTTTAGAAAGAGCTGGATCCTCAGAGTCAGGATACCTGGGTTCTGTCTTCTACTTGGCCAC 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TGGCCTGGGCGCGGTGGCTCACGCCAGCACTTTGGGAGGCCACGGCGGGTGGATTACTTGAGGTCAAGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTTTTCTAAAAATATAAAACTAGCTGGATGTGGTGGTCCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGGAGAATTACTTGAACCAGGAGGTGGAAGGTGCAGTGAGCCAAGATCACACCAGTGCACTCCAGCCTGGGCAACAACAGCGAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAGACCAGCCTGGGCAATGGAGAGACGCCATCTCTATTTAAAAAAAAAAAAAAAGTATGGGAGTCCTCAGTGATCATACCTATAGATTCCAAACCCCTTCTCCATCATTTGGATTGCCCTGGGAAGCACAAGAGAAGACCACCATCCAAACAGAGATCAGTTCTTGAACCTGTGTTGATGTTTATTCTGCCACTGAGAGGTACACCAGGGTTTCCAAAGACAGTAGGAATATTTCTGTTCTCTGTGTATATTGAACAGCTGTGCACCTAAGCAGGGTGCCTGAGTAGGAAGTTAATTTCATTTTAAGGGCTGGAGCTTGTTACAAGTAGCGGAGCCAAGCCTTTGCACATCCATTTTCTTCAGAACCCAAGGAAAACTAGCCCATCTTGACAGCTCTACTTTTGCGCCTGTTAGTGCTGCCCTGATCCCTGACAGGAAGAGCTGGCTAATTTTAGATAATCTGTGCCCTGACACTGAAGTGTCTAATCATAGGGGCTATAGAAACAACTACATTAACAAGTCGTCCAGCCTCATGCCCAATGTCACAATTTTTGAACAGATGGCCTCCTTCCTTCCTGTTTACTGACATGCAAGGCTCTGAGAAAAATAATTCAATCCAATTTACAGCAAACACCACATTTCAAGAAAAGGGAAAGAACAGGTGATGTGTATACCAAGGTCCCACTTGCTCAGGCAAAAAGAGGCTGCAGAAAATTGGTTCATCAATGGAATTCTATCACAAAGTGACCATTGTATAGTGAGTTTATTTGTGCTCTAAAATAGTATCAACGTGCATCTTTCCACTGAATGACTTCATGGATCGTGGCCAACATAGAACTTGGATAGGAAATCCTTTGGCCTTGGCGCTTCTGTTTCATGGAAGAACCGCATAACATGTGTCCGCTGCTTCCATACTTTAATTGTTTCTTCCAGTTCGATCTTTCCCTGAACAGTGAGGAGAGAGGTCATCAGTCAAAGTTGTCAAGTTGAAGGCATATGACACTGAAGGCCAGGATTCTATTCTCTGCTCAGCATGGACTTGTTGAATGACCTTGGGCAAGTAACTACTCTGTCTGGGCAAAGTTTCTATGTCTGGACAATGAGGTGGTCAGGGTAAATCATTTCTGACACTTTTCAGATTCTTTAACTCTGTGGTTAACTGGTACCAAGAGGAGAAACATACAGGTTAACAGGCTCCTATCCCATGACTACCTAACCTGACTGGCTTAACTTATGTTTCTGCTTATCATTTCTTCTGTTACTGACTGGTCTATGCTGAAGCTCCCATTGATGCTAACGTGACTGGCCAGGGGGACAGAATCAGCCCCAGGATTTGAGTCCATTTATACAGGACTCATAACCACCCTAACTGCCTCTTCCAGCTGTAAACTGGCATTCAGATGAAGTGGTAACTTCTAGGGATGAGGTTCAAGAAGAGTTCAAACTTTCCTCCCTATATCTTTTTTTATGGTTATAAAATGCAAGTCCCAGTGGATGTTCCCTTGATGAATCTTATCTATTTAACCAGATGATAACCTCCAAGTTCAAGTATTTCTCTGAAACACAGCAATAATCACTGCCGAACCAGTAGCTGCTTTCTAAACTTGGAGACAAAATGTTCATTTGGAAAGACTAAGAAGTAGTGGACAAGTTGGCTGATCTTTTAAATTGGTCAGGGAGGGTCAGTTACCTTAATGACCAGAAGATCAACCACCCTGGGGTCTGTGACATGGGCATTCTTCATAAACATTTCTGGGACTTTATCCCGTCCCATTTTCACAGTGATGTCCAGCTGGAATTGGTGCACTAGAGAGAAAAACATGACTCAGGGTAGAAATTGTATGGTTAAATAAAACCTAGAGTCAAATGATACTCATTGAACACATACAGGTCGCCCATTCATTTCTTCACCAAAAAATTAGCCTGACCCTAGGCTAGGTGCTTGAGGATGAGACATGTGATTCATGGTATTTGCTCTCAAGGAACTTATTATTTGTTTGGGGAAAAAGACCACTGAATTTGAAGAGGCAGTAAAGCATTGTTCAAGAGTTTGAACAACCTGGGTTCAAATCCCAGCTTTTGTTAGCTATATGATCCCGTGTAAGTTAACTTTCTTGTGCCTGAGTGTATTTTTTAAAAAATTATTTTATGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGATCGAGACTACCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGTGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGTGGACCTTGCAGTGAGCCGAGGTCGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAATAATAATTATTTTATTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACTAAAAATACAAACATGAGCCGGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGGTGCAGTGAGCTGAGATGGGCCACTGCATTCCAGCCTGGGTGACAGAGTGAGACTGTGTCTCAAAAAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAATAATTATTATTTTATTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACAGCCTGGCCAACATGGTGAAACCCCGTTTCTACTAAAAATACAAAAGTTAGCCAGGTGTGGTGGCACGCAACTATAATCCCAGCTACTCGGGAGGCTGAGGCATGGGGAAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCATTGCCCTCCAGCCTGGGAGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGTGAGTTATCATTACTGTTTTTTTCATTAAATACTTAAAATTTTACTTTTGTTTTTTATTAATGCTCAGGCTGTTCTAAGTTCTCAACACTATTACTTATTCCCCTTCCTTGATTTGATTCCTCAGCTGGAGTCCTGATGATGGATACCATAAAACCCGTGTGGCACAGGTTTGAGTAACTGGCCAGCTACAGATCACTGATCTTCCCCATAGGGATGCATACTCCTTGACCCCTTCTTTTCTCTCCTCTTCCCTTGCTTTCTAGGCTCCTGTAGCCCTCTGCCTTCTTTTCCTCCTCTCAAGACCCTTCTGACTTTGGGACTTTCTTCCCAAAACAGAATTTGAGGGAAGGTCTTGGGAGGGGTCGGTTTAGAAAGAGCTGGATCCTCAGAGTCAGGATACCTGGGTTCTGTCTTCTACTTGGCCAC 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Task1_train_28871 | This variant affects gene NDUFA6 (NADH:ubiquinone oxidoreductase subunit A6) located on Chromosome 22. Evaluate its biological effect and specify any disease association. | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 33 | CTGGGAGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGTGAGTTATCATTACTGTTTTTTTCATTAAATACTTAAAATTTTACTTTTGTTTTTTATTAATGCTCAGGCTGTTCTAAGTTCTCAACACTATTACTTATTCCCCTTCCTTGATTTGATTCCTCAGCTGGAGTCCTGATGATGGATACCATAAAACCCGTGTGGCACAGGTTTGAGTAACTGGCCAGCTACAGATCACTGATCTTCCCCATAGGGATGCATACTCCTTGACCCCTTCTTTTCTCTCCTCTTCCCTTGCTTTCTAGGCTCCTGTAGCCCTCTGCCTTCTTTTCCTCCTCTCAAGACCCTTCTGACTTTGGGACTTTCTTCCCAAAACAGAATTTGAGGGAAGGTCTTGGGAGGGGTCGGTTTAGAAAGAGCTGGATCCTCAGAGTCAGGATACCTGGGTTCTGTCTTCTACTTGGCCACTGATTTACCCTTCACAAGCCACCCTTTTTGAATGTGGTCCTCCTTCCCCCAGCACCTTCCTCCTGCAACCAGAGAGGGTTCTGGGTACTCCTAGAAGTATTCTGCCAGGCAAACATTATGTTTTCAAACTGCTGAATTTGAATGCACCACCCCGAAACACACACACACACACACACACACACACTGCTACAGTCACTCCCCACACACATCTTTTATCTGCCTGCCCCTGAAGGCATCTGAATTTGCAGTCCCTGAACCAGCAGATCACTCAAGTTTCTCCTTCTCTAGTATCGCGTGGGTTTAAGTTCTGGTCAGTAGCAATTTTTCCAAAAGTCAGCTTGAAGACAGGGACTCTGTGGAGCAGACACAGTTCTCATATGTCAAAGAACCGGGTTCTGCTTGGAAGCTGCTGCTAAGGAAAGCCCTATAAATAACAAAAATAACAACAAAAACAACGGCAGCAGCTAATATTTAATGAGTTAAATATGCATCAAGTCCTGTTCTAAGCACTCTAGATATTTTAACTTAATACAGTAACCTTCTGAAGAAGGAATTATTATTCCCATTTTAAAGATGAAGAAACTGAGGAATAGATGAAATAACTGGCCCAAGGTCACACAGCTAGTTGAGGGCAGCGCCTGAAGAAAAGTCCGTGCTCCTAACCACCACATTCTACCGCCTTTTCACACACACAAGCAGGGACTCGACAGCCCTGAGGAGTGGCACCGTGCTCCAGCTCACTCAAAAACACCTCTTTCTCGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATTCTGGCTAACACGGTGAAATCCCGTCTCTACTAAAAATACAAAAAAAAATGGCCGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCTGAGGCAGGAGAATGACGTGAATCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGAGCGACACAGCGAGACTCTGTCACAAACAAAAAAATCCAACGGGCATCTATAATTACACTCTGCAACTCTAGACTTTGGGTTCTGGGTACAACAGTGGCTCGGCCTGGGCCCTGGGCACATCACTTCACCTCTCGGTGCCTCCGCTGCCTCACCCACAAAGTGAGTGTGTCACTGACAGTCATCGTCCTCCCGCCAATTGCGAAGGACAAAAGAGACCAAAGCTCCGATAGCACGTACGAATGCTAGGCACGGCCGGTCTGACCACCGCGCCGCCGCCAGGTCCGGCCCATGGTAGGCTCGGGTGACCCTCTTCCCCTGAAGCACCCGCAGTCGCCTCTGCCCAAGTTGGTGACCTCAGCTGGGCCCATGAGAAACCCCGGCCGGGCCGGCTACGACCTTGAGCGGCGGCCTCCGGGTCCCCACGTAAGCCGCTACCTCTCACCAGTGTTCGGCACCTCCCGATACCAGGCGCGGTAGAGCTCGCGCACCCTCCGCTTGGCCTCGTTCATGTCCCGACTGAAAATGGGCTTCACGAAGGTGCTGGCGGTAGAAGTAGCTTGGCGGACGCCGCTCCCCGCCATCTTGCCAAAGCATCCACTCCACAACCCCACCCCTTTGCAAGCAGCGCGTGCGGACCGCGGGCGAATGTCTTTTCCCATTGGCTAAGGAGGAACGCCCCGCCTGTATGCTGGGTGGGCGGGAGGATGACTCTGAGGCTCTCGGATTGGCTGGGAAGCCTCTCTCTGGCTGAGCGAACGGTGGGTGCTGCGCATGCTCATCTACAGAAACGCCGCTTGGCCTTTGGACTACACCATCTGTCGCTCGCTCTAACGAGCCGGCGTTGCCGCCAGGGGACGCTCGGGCCGCAGGAGGTCGCTGGGTCGTGAGCTGGCGCCGGGGACGCCGAGCGACTGCGGGGTTTCCCTCAGCGTCCTGCTATCCGGCTGCCCGCCGCGCTCCTTGGTAGTGTCCGTGGGCGCGCAGGCCTTGAAGAACCTCCTCGTGGCGGGACCCCGAGGTAACTGCTGAGGCAGATAATGGCGCCTGGGCTGCGGTGGGGCTTGTCCTGCCGCCTGGCGGCTTTCTGCAGGGCCAGGATATACTTACTTTTCTGTAAACCAACTCTTCCTTAGCGCAGGAGAGGTGTCAAAGAGCTGGCGCGTCTCCAGAGCCCCGGGAGGAAGGCTGTAACGGCAGCCCCATCGTAGACAGGGACATTCGCATCCCGAGCCCTGGATCTCTGAAAACCAGCCCAGAATTTGGAAGCTGGAAGGAACTTTAGATCGTCCATTCTGAGTGTCTCTCTTCGCTGGCGTTTTCCCACTGAGGTTATGTAAACATGAAGAGGAGCCTACAAGTGTCAAGGAAAAAACGACAGCTAACCACAGGGCAGGCCATGGGCAAGATATCTCAGTGTTCTCCGCTCTCATAGGTCAGGTAGGTACCTCAGCATCCCCATTTTACAGGTGAGGAAACTGAGATGGCCCAGAGTCTAGGTCACCTGACAGATCGCCCCCACCTGCCTGACTGCTGCCTAAGAGGCTCCGTCTTTTTCTGAAGGTGTAGTTGACAGGAGCCTGTGAGTATTGGGGAAGGGCCAGGGGCCGGGGCTGAGCATCTACTCCAAACTTTCCCATTTCGAAGGGTTAAAAAACCAGATATACTTTTTTTCTTCCTTATTATCTTCTAAAATGTATATATATATTCAAGTGAGCTATACAAAAGAAAGCACGTAACATATATAAATTATAAAGCATAATAATAAAATGGAAGCTTTTGAACCTCAGTACTGACTTAAGAAGTTGTAACACAGTTAAGGTTTGTATAAAGTGTCCTTAGATGTCCTTAGTAGCCACTGTTCTCTAGTTCTCTAGGTACATTAACTTGGCTAGGCTTCACAACACACCAGTGAGATTGTGTTGATATACCCTTTTTTTTTTTTTTTTTTGAGACAGAGTGAGACTCACCTAGGCTGGACTGCAATGGTGCAATCTCGGCTCACTGCAACCTCCGCCTCTCATGTTCAAGCCATTCTCCTGCCTCAGCTTTCCGAATCGCTGGGATTACAGGTGCGCACCACCATGCATGGCTAATGCTTGTATTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTCAAACTCCTGACTTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCCCCCGGCTGATATACTCATTTTATAGATGAGAAAACTGAGGCACAAAGAGACTAAGTTACTTTACAGCATTGGGGTTGAAGCCCAGGCAGCTGGTGCCAGAGTCAGTTTTCTGACTCTCGCAGCACCTATACCATGATATCTACCTGTATGATTCTAACCTTGTGTATACCCCTGCCTCCTTCAGAAGTACCCACTATCATGATAAATTCATTGTGTTCAACATTCAAAAAAAAAATGGGGCGCAGTGGCTCACTCCTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGTGTATCACCTGATGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAAAATTAGCCGGCATGGTGGTGGGCACCTGTAATCTCAGCTACTC 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CTGGGAGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGTGAGTTATCATTACTGTTTTTTTCATTAAATACTTAAAATTTTACTTTTGTTTTTTATTAATGCTCAGGCTGTTCTAAGTTCTCAACACTATTACTTATTCCCCTTCCTTGATTTGATTCCTCAGCTGGAGTCCTGATGATGGATACCATAAAACCCGTGTGGCACAGGTTTGAGTAACTGGCCAGCTACAGATCACTGATCTTCCCCATAGGGATGCATACTCCTTGACCCCTTCTTTTCTCTCCTCTTCCCTTGCTTTCTAGGCTCCTGTAGCCCTCTGCCTTCTTTTCCTCCTCTCAAGACCCTTCTGACTTTGGGACTTTCTTCCCAAAACAGAATTTGAGGGAAGGTCTTGGGAGGGGTCGGTTTAGAAAGAGCTGGATCCTCAGAGTCAGGATACCTGGGTTCTGTCTTCTACTTGGCCACTGATTTACCCTTCACAAGCCACCCTTTTTGAATGTGGTCCTCCTTCCCCCAGCACCTTCCTCCTGCAACCAGAGAGGGTTCTGGGTACTCCTAGAAGTATTCTGCCAGGCAAACATTATGTTTTCAAACTGCTGAATTTGAATGCACCACCCCGAAACACACACACACACACACACACACACACTGCTACAGTCACTCCCCACACACATCTTTTATCTGCCTGCCCCTGAAGGCATCTGAATTTGCAGTCCCTGAACCAGCAGATCACTCAAGTTTCTCCTTCTCTAGTATCGCGTGGGTTTAAGTTCTGGTCAGTAGCAATTTTTCCAAAAGTCAGCTTGAAGACAGGGACTCTGTGGAGCAGACACAGTTCTCATATGTCAAAGAACCGGGTTCTGCTTGGAAGCTGCTGCTAAGGAAAGCCCTATAAATAACAAAAATAACAACAAAAACAACGGCAGCAGCTAATATTTAATGAGTTAAATATGCATCAAGTCCTGTTCTAAGCACTCTAGATATTTTAACTTAATACAGTAACCTTCTGAAGAAGGAATTATTATTCCCATTTTAAAGATGAAGAAACTGAGGAATAGATGAAATAACTGGCCCAAGGTCACACAGCTAGTTGAGGGCAGCGCCTGAAGAAAAGTCCGTGCTCCTAACCACCACATTCTACCGCCTTTTCACACACACAAGCAGGGACTCGACAGCCCTGAGGAGTGGCACCGTGCTCCAGCTCACTCAAAAACACCTCTTTCTCGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATTCTGGCTAACACGGTGAAATCCCGTCTCTACTAAAAATACAAAAAAAAATGGCCGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCTGAGGCAGGAGAATGACGTGAATCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGAGCGACACAGCGAGACTCTGTCACAAACAAAAAAATCCAACGGGCATCTATAATTACACTCTGCAACTCTAGACTTTGGGTTCTGGGTACAACAGTGGCTCGGCCTGGGCCCTGGGCACATCACTTCACCTCTCGGTGCCTCCGCTGCCTCACCCACAAAGTGAGTGTGTCACTGACAGTCATCGTCCTCCCGCCAATTGCGAAGGACAAAAGAGACCAAAGCTCCGATAGCACGTACGAATGCTAGGCACGGCCGGTCTGACCACCGCGCCGCCGCCAGGTCCGGCCCATGGTAGGCTCGGGTGACCCTCTTCCCCTGAAGCACCCGCAGTCGCCTCTGCCCAAGTTGGTGACCTCAGCTGGGCCCATGAGAAACCCCGGCCGGGCCGGCTACGACCTTGAGCGGCGGCCTCCGGGTCCCCACGTAAGCCGCTACCTCTCACCAGTGTTCGGCACCTCCCGATACCAGGCGCGGTAGAGCTCGCGCACCCTCCGCTTGGCCTCGTTCATGTCCCGACTGAAAATGGGCTTCACGAAGGTGCTGGCGGTAGAAGTAGCTTGGCGGACGCCGCTCCCCGCTATCTTGCCAAAGCATCCACTCCACAACCCCACCCCTTTGCAAGCAGCGCGTGCGGACCGCGGGCGAATGTCTTTTCCCATTGGCTAAGGAGGAACGCCCCGCCTGTATGCTGGGTGGGCGGGAGGATGACTCTGAGGCTCTCGGATTGGCTGGGAAGCCTCTCTCTGGCTGAGCGAACGGTGGGTGCTGCGCATGCTCATCTACAGAAACGCCGCTTGGCCTTTGGACTACACCATCTGTCGCTCGCTCTAACGAGCCGGCGTTGCCGCCAGGGGACGCTCGGGCCGCAGGAGGTCGCTGGGTCGTGAGCTGGCGCCGGGGACGCCGAGCGACTGCGGGGTTTCCCTCAGCGTCCTGCTATCCGGCTGCCCGCCGCGCTCCTTGGTAGTGTCCGTGGGCGCGCAGGCCTTGAAGAACCTCCTCGTGGCGGGACCCCGAGGTAACTGCTGAGGCAGATAATGGCGCCTGGGCTGCGGTGGGGCTTGTCCTGCCGCCTGGCGGCTTTCTGCAGGGCCAGGATATACTTACTTTTCTGTAAACCAACTCTTCCTTAGCGCAGGAGAGGTGTCAAAGAGCTGGCGCGTCTCCAGAGCCCCGGGAGGAAGGCTGTAACGGCAGCCCCATCGTAGACAGGGACATTCGCATCCCGAGCCCTGGATCTCTGAAAACCAGCCCAGAATTTGGAAGCTGGAAGGAACTTTAGATCGTCCATTCTGAGTGTCTCTCTTCGCTGGCGTTTTCCCACTGAGGTTATGTAAACATGAAGAGGAGCCTACAAGTGTCAAGGAAAAAACGACAGCTAACCACAGGGCAGGCCATGGGCAAGATATCTCAGTGTTCTCCGCTCTCATAGGTCAGGTAGGTACCTCAGCATCCCCATTTTACAGGTGAGGAAACTGAGATGGCCCAGAGTCTAGGTCACCTGACAGATCGCCCCCACCTGCCTGACTGCTGCCTAAGAGGCTCCGTCTTTTTCTGAAGGTGTAGTTGACAGGAGCCTGTGAGTATTGGGGAAGGGCCAGGGGCCGGGGCTGAGCATCTACTCCAAACTTTCCCATTTCGAAGGGTTAAAAAACCAGATATACTTTTTTTCTTCCTTATTATCTTCTAAAATGTATATATATATTCAAGTGAGCTATACAAAAGAAAGCACGTAACATATATAAATTATAAAGCATAATAATAAAATGGAAGCTTTTGAACCTCAGTACTGACTTAAGAAGTTGTAACACAGTTAAGGTTTGTATAAAGTGTCCTTAGATGTCCTTAGTAGCCACTGTTCTCTAGTTCTCTAGGTACATTAACTTGGCTAGGCTTCACAACACACCAGTGAGATTGTGTTGATATACCCTTTTTTTTTTTTTTTTTTGAGACAGAGTGAGACTCACCTAGGCTGGACTGCAATGGTGCAATCTCGGCTCACTGCAACCTCCGCCTCTCATGTTCAAGCCATTCTCCTGCCTCAGCTTTCCGAATCGCTGGGATTACAGGTGCGCACCACCATGCATGGCTAATGCTTGTATTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTCAAACTCCTGACTTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCCCCCGGCTGATATACTCATTTTATAGATGAGAAAACTGAGGCACAAAGAGACTAAGTTACTTTACAGCATTGGGGTTGAAGCCCAGGCAGCTGGTGCCAGAGTCAGTTTTCTGACTCTCGCAGCACCTATACCATGATATCTACCTGTATGATTCTAACCTTGTGTATACCCCTGCCTCCTTCAGAAGTACCCACTATCATGATAAATTCATTGTGTTCAACATTCAAAAAAAAAATGGGGCGCAGTGGCTCACTCCTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGTGTATCACCTGATGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAAAATTAGCCGGCATGGTGGTGGGCACCTGTAATCTCAGCTACTC 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Task1_train_28872 | Gene NDUFA6 (NADH:ubiquinone oxidoreductase subunit A6) on Chromosome 22 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Mitochondrial disease | CTGGGAGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGTGAGTTATCATTACTGTTTTTTTCATTAAATACTTAAAATTTTACTTTTGTTTTTTATTAATGCTCAGGCTGTTCTAAGTTCTCAACACTATTACTTATTCCCCTTCCTTGATTTGATTCCTCAGCTGGAGTCCTGATGATGGATACCATAAAACCCGTGTGGCACAGGTTTGAGTAACTGGCCAGCTACAGATCACTGATCTTCCCCATAGGGATGCATACTCCTTGACCCCTTCTTTTCTCTCCTCTTCCCTTGCTTTCTAGGCTCCTGTAGCCCTCTGCCTTCTTTTCCTCCTCTCAAGACCCTTCTGACTTTGGGACTTTCTTCCCAAAACAGAATTTGAGGGAAGGTCTTGGGAGGGGTCGGTTTAGAAAGAGCTGGATCCTCAGAGTCAGGATACCTGGGTTCTGTCTTCTACTTGGCCACTGATTTACCCTTCACAAGCCACCCTTTTTGAATGTGGTCCTCCTTCCCCCAGCACCTTCCTCCTGCAACCAGAGAGGGTTCTGGGTACTCCTAGAAGTATTCTGCCAGGCAAACATTATGTTTTCAAACTGCTGAATTTGAATGCACCACCCCGAAACACACACACACACACACACACACACACTGCTACAGTCACTCCCCACACACATCTTTTATCTGCCTGCCCCTGAAGGCATCTGAATTTGCAGTCCCTGAACCAGCAGATCACTCAAGTTTCTCCTTCTCTAGTATCGCGTGGGTTTAAGTTCTGGTCAGTAGCAATTTTTCCAAAAGTCAGCTTGAAGACAGGGACTCTGTGGAGCAGACACAGTTCTCATATGTCAAAGAACCGGGTTCTGCTTGGAAGCTGCTGCTAAGGAAAGCCCTATAAATAACAAAAATAACAACAAAAACAACGGCAGCAGCTAATATTTAATGAGTTAAATATGCATCAAGTCCTGTTCTAAGCACTCTAGATATTTTAACTTAATACAGTAACCTTCTGAAGAAGGAATTATTATTCCCATTTTAAAGATGAAGAAACTGAGGAATAGATGAAATAACTGGCCCAAGGTCACACAGCTAGTTGAGGGCAGCGCCTGAAGAAAAGTCCGTGCTCCTAACCACCACATTCTACCGCCTTTTCACACACACAAGCAGGGACTCGACAGCCCTGAGGAGTGGCACCGTGCTCCAGCTCACTCAAAAACACCTCTTTCTCGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATTCTGGCTAACACGGTGAAATCCCGTCTCTACTAAAAATACAAAAAAAAATGGCCGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCTGAGGCAGGAGAATGACGTGAATCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGAGCGACACAGCGAGACTCTGTCACAAACAAAAAAATCCAACGGGCATCTATAATTACACTCTGCAACTCTAGACTTTGGGTTCTGGGTACAACAGTGGCTCGGCCTGGGCCCTGGGCACATCACTTCACCTCTCGGTGCCTCCGCTGCCTCACCCACAAAGTGAGTGTGTCACTGACAGTCATCGTCCTCCCGCCAATTGCGAAGGACAAAAGAGACCAAAGCTCCGATAGCACGTACGAATGCTAGGCACGGCCGGTCTGACCACCGCGCCGCCGCCAGGTCCGGCCCATGGTAGGCTCGGGTGACCCTCTTCCCCTGAAGCACCCGCAGTCGCCTCTGCCCAAGTTGGTGACCTCAGCTGGGCCCATGAGAAACCCCGGCCGGGCCGGCTACGACCTTGAGCGGCGGCCTCCGGGTCCCCACGTAAGCCGCTACCTCTCACCAGTGTTCGGCACCTCCCGATACCAGGCGCGGTAGAGCTCGCGCACCCTCCGCTTGGCCTCGTTCATGTCCCGACTGAAAATGGGCTTCACGAAGGTGCTGGCGGTAGAAGTAGCTTGGCGGACGCCGCTCCCCGCCATCTTGCCAAAGCATCCACTCCACAACCCCACCCCTTTGCAAGCAGCGCGTGCGGACCGCGGGCGAATGTCTTTTCCCATTGGCTAAGGAGGAACGCCCCGCCTGTATGCTGGGTGGGCGGGAGGATGACTCTGAGGCTCTCGGATTGGCTGGGAAGCCTCTCTCTGGCTGAGCGAACGGTGGGTGCTGCGCATGCTCATCTACAGAAACGCCGCTTGGCCTTTGGACTACACCATCTGTCGCTCGCTCTAACGAGCCGGCGTTGCCGCCAGGGGACGCTCGGGCCGCAGGAGGTCGCTGGGTCGTGAGCTGGCGCCGGGGACGCCGAGCGACTGCGGGGTTTCCCTCAGCGTCCTGCTATCCGGCTGCCCGCCGCGCTCCTTGGTAGTGTCCGTGGGCGCGCAGGCCTTGAAGAACCTCCTCGTGGCGGGACCCCGAGGTAACTGCTGAGGCAGATAATGGCGCCTGGGCTGCGGTGGGGCTTGTCCTGCCGCCTGGCGGCTTTCTGCAGGGCCAGGATATACTTACTTTTCTGTAAACCAACTCTTCCTTAGCGCAGGAGAGGTGTCAAAGAGCTGGCGCGTCTCCAGAGCCCCGGGAGGAAGGCTGTAACGGCAGCCCCATCGTAGACAGGGACATTCGCATCCCGAGCCCTGGATCTCTGAAAACCAGCCCAGAATTTGGAAGCTGGAAGGAACTTTAGATCGTCCATTCTGAGTGTCTCTCTTCGCTGGCGTTTTCCCACTGAGGTTATGTAAACATGAAGAGGAGCCTACAAGTGTCAAGGAAAAAACGACAGCTAACCACAGGGCAGGCCATGGGCAAGATATCTCAGTGTTCTCCGCTCTCATAGGTCAGGTAGGTACCTCAGCATCCCCATTTTACAGGTGAGGAAACTGAGATGGCCCAGAGTCTAGGTCACCTGACAGATCGCCCCCACCTGCCTGACTGCTGCCTAAGAGGCTCCGTCTTTTTCTGAAGGTGTAGTTGACAGGAGCCTGTGAGTATTGGGGAAGGGCCAGGGGCCGGGGCTGAGCATCTACTCCAAACTTTCCCATTTCGAAGGGTTAAAAAACCAGATATACTTTTTTTCTTCCTTATTATCTTCTAAAATGTATATATATATTCAAGTGAGCTATACAAAAGAAAGCACGTAACATATATAAATTATAAAGCATAATAATAAAATGGAAGCTTTTGAACCTCAGTACTGACTTAAGAAGTTGTAACACAGTTAAGGTTTGTATAAAGTGTCCTTAGATGTCCTTAGTAGCCACTGTTCTCTAGTTCTCTAGGTACATTAACTTGGCTAGGCTTCACAACACACCAGTGAGATTGTGTTGATATACCCTTTTTTTTTTTTTTTTTTGAGACAGAGTGAGACTCACCTAGGCTGGACTGCAATGGTGCAATCTCGGCTCACTGCAACCTCCGCCTCTCATGTTCAAGCCATTCTCCTGCCTCAGCTTTCCGAATCGCTGGGATTACAGGTGCGCACCACCATGCATGGCTAATGCTTGTATTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTCAAACTCCTGACTTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCCCCCGGCTGATATACTCATTTTATAGATGAGAAAACTGAGGCACAAAGAGACTAAGTTACTTTACAGCATTGGGGTTGAAGCCCAGGCAGCTGGTGCCAGAGTCAGTTTTCTGACTCTCGCAGCACCTATACCATGATATCTACCTGTATGATTCTAACCTTGTGTATACCCCTGCCTCCTTCAGAAGTACCCACTATCATGATAAATTCATTGTGTTCAACATTCAAAAAAAAAATGGGGCGCAGTGGCTCACTCCTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGTGTATCACCTGATGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAAAATTAGCCGGCATGGTGGTGGGCACCTGTAATCTCAGCTACTC 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CTGGGAGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGTGAGTTATCATTACTGTTTTTTTCATTAAATACTTAAAATTTTACTTTTGTTTTTTATTAATGCTCAGGCTGTTCTAAGTTCTCAACACTATTACTTATTCCCCTTCCTTGATTTGATTCCTCAGCTGGAGTCCTGATGATGGATACCATAAAACCCGTGTGGCACAGGTTTGAGTAACTGGCCAGCTACAGATCACTGATCTTCCCCATAGGGATGCATACTCCTTGACCCCTTCTTTTCTCTCCTCTTCCCTTGCTTTCTAGGCTCCTGTAGCCCTCTGCCTTCTTTTCCTCCTCTCAAGACCCTTCTGACTTTGGGACTTTCTTCCCAAAACAGAATTTGAGGGAAGGTCTTGGGAGGGGTCGGTTTAGAAAGAGCTGGATCCTCAGAGTCAGGATACCTGGGTTCTGTCTTCTACTTGGCCACTGATTTACCCTTCACAAGCCACCCTTTTTGAATGTGGTCCTCCTTCCCCCAGCACCTTCCTCCTGCAACCAGAGAGGGTTCTGGGTACTCCTAGAAGTATTCTGCCAGGCAAACATTATGTTTTCAAACTGCTGAATTTGAATGCACCACCCCGAAACACACACACACACACACACACACACACTGCTACAGTCACTCCCCACACACATCTTTTATCTGCCTGCCCCTGAAGGCATCTGAATTTGCAGTCCCTGAACCAGCAGATCACTCAAGTTTCTCCTTCTCTAGTATCGCGTGGGTTTAAGTTCTGGTCAGTAGCAATTTTTCCAAAAGTCAGCTTGAAGACAGGGACTCTGTGGAGCAGACACAGTTCTCATATGTCAAAGAACCGGGTTCTGCTTGGAAGCTGCTGCTAAGGAAAGCCCTATAAATAACAAAAATAACAACAAAAACAACGGCAGCAGCTAATATTTAATGAGTTAAATATGCATCAAGTCCTGTTCTAAGCACTCTAGATATTTTAACTTAATACAGTAACCTTCTGAAGAAGGAATTATTATTCCCATTTTAAAGATGAAGAAACTGAGGAATAGATGAAATAACTGGCCCAAGGTCACACAGCTAGTTGAGGGCAGCGCCTGAAGAAAAGTCCGTGCTCCTAACCACCACATTCTACCGCCTTTTCACACACACAAGCAGGGACTCGACAGCCCTGAGGAGTGGCACCGTGCTCCAGCTCACTCAAAAACACCTCTTTCTCGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATTCTGGCTAACACGGTGAAATCCCGTCTCTACTAAAAATACAAAAAAAAATGGCCGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCTGAGGCAGGAGAATGACGTGAATCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGAGCGACACAGCGAGACTCTGTCACAAACAAAAAAATCCAACGGGCATCTATAATTACACTCTGCAACTCTAGACTTTGGGTTCTGGGTACAACAGTGGCTCGGCCTGGGCCCTGGGCACATCACTTCACCTCTCGGTGCCTCCGCTGCCTCACCCACAAAGTGAGTGTGTCACTGACAGTCATCGTCCTCCCGCCAATTGCGAAGGACAAAAGAGACCAAAGCTCCGATAGCACGTACGAATGCTAGGCACGGCCGGTCTGACCACCGCGCCGCCGCCAGGTCCGGCCCATGGTAGGCTCGGGTGACCCTCTTCCCCTGAAGCACCCGCAGTCGCCTCTGCCCAAGTTGGTGACCTCAGCTGGGCCCATGAGAAACCCCGGCCGGGCCGGCTACGACCTTGAGCGGCGGCCTCCGGGTCCCCACGTAAGCCGCTACCTCTCACCAGTGTTCGGCACCTCCCGATACCAGGCGCGGTAGAGCTCGCGCACCCTCCGCTTGGCCTCGTTCATGTCCCGACTGAAAATGGGCTTCACGAAGGTGCTGGCGGTAGAAGTAGCTTGGCGGACGCCGCTCCCCGCTATCTTGCCAAAGCATCCACTCCACAACCCCACCCCTTTGCAAGCAGCGCGTGCGGACCGCGGGCGAATGTCTTTTCCCATTGGCTAAGGAGGAACGCCCCGCCTGTATGCTGGGTGGGCGGGAGGATGACTCTGAGGCTCTCGGATTGGCTGGGAAGCCTCTCTCTGGCTGAGCGAACGGTGGGTGCTGCGCATGCTCATCTACAGAAACGCCGCTTGGCCTTTGGACTACACCATCTGTCGCTCGCTCTAACGAGCCGGCGTTGCCGCCAGGGGACGCTCGGGCCGCAGGAGGTCGCTGGGTCGTGAGCTGGCGCCGGGGACGCCGAGCGACTGCGGGGTTTCCCTCAGCGTCCTGCTATCCGGCTGCCCGCCGCGCTCCTTGGTAGTGTCCGTGGGCGCGCAGGCCTTGAAGAACCTCCTCGTGGCGGGACCCCGAGGTAACTGCTGAGGCAGATAATGGCGCCTGGGCTGCGGTGGGGCTTGTCCTGCCGCCTGGCGGCTTTCTGCAGGGCCAGGATATACTTACTTTTCTGTAAACCAACTCTTCCTTAGCGCAGGAGAGGTGTCAAAGAGCTGGCGCGTCTCCAGAGCCCCGGGAGGAAGGCTGTAACGGCAGCCCCATCGTAGACAGGGACATTCGCATCCCGAGCCCTGGATCTCTGAAAACCAGCCCAGAATTTGGAAGCTGGAAGGAACTTTAGATCGTCCATTCTGAGTGTCTCTCTTCGCTGGCGTTTTCCCACTGAGGTTATGTAAACATGAAGAGGAGCCTACAAGTGTCAAGGAAAAAACGACAGCTAACCACAGGGCAGGCCATGGGCAAGATATCTCAGTGTTCTCCGCTCTCATAGGTCAGGTAGGTACCTCAGCATCCCCATTTTACAGGTGAGGAAACTGAGATGGCCCAGAGTCTAGGTCACCTGACAGATCGCCCCCACCTGCCTGACTGCTGCCTAAGAGGCTCCGTCTTTTTCTGAAGGTGTAGTTGACAGGAGCCTGTGAGTATTGGGGAAGGGCCAGGGGCCGGGGCTGAGCATCTACTCCAAACTTTCCCATTTCGAAGGGTTAAAAAACCAGATATACTTTTTTTCTTCCTTATTATCTTCTAAAATGTATATATATATTCAAGTGAGCTATACAAAAGAAAGCACGTAACATATATAAATTATAAAGCATAATAATAAAATGGAAGCTTTTGAACCTCAGTACTGACTTAAGAAGTTGTAACACAGTTAAGGTTTGTATAAAGTGTCCTTAGATGTCCTTAGTAGCCACTGTTCTCTAGTTCTCTAGGTACATTAACTTGGCTAGGCTTCACAACACACCAGTGAGATTGTGTTGATATACCCTTTTTTTTTTTTTTTTTTGAGACAGAGTGAGACTCACCTAGGCTGGACTGCAATGGTGCAATCTCGGCTCACTGCAACCTCCGCCTCTCATGTTCAAGCCATTCTCCTGCCTCAGCTTTCCGAATCGCTGGGATTACAGGTGCGCACCACCATGCATGGCTAATGCTTGTATTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTCAAACTCCTGACTTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCCCCCGGCTGATATACTCATTTTATAGATGAGAAAACTGAGGCACAAAGAGACTAAGTTACTTTACAGCATTGGGGTTGAAGCCCAGGCAGCTGGTGCCAGAGTCAGTTTTCTGACTCTCGCAGCACCTATACCATGATATCTACCTGTATGATTCTAACCTTGTGTATACCCCTGCCTCCTTCAGAAGTACCCACTATCATGATAAATTCATTGTGTTCAACATTCAAAAAAAAAATGGGGCGCAGTGGCTCACTCCTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGTGTATCACCTGATGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAAAATTAGCCGGCATGGTGGTGGGCACCTGTAATCTCAGCTACTC 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Task1_train_28873 | This mutation is located in gene TCF20 (transcription factor 20) on Chromosome 22. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Neurodevelopmental abnormality | TTGGATGGCACTTCTTTAACAAAATGTTTCCCTTCTTTCAACAGTTAACACACTGCAAAACATCCCCCTATCATCTCAGCAAAGAAAATACAACACTCTATTGTATGTATACAACGTACTGTGATTTAGAGTAAGAAATACATATTTTAGTCTTCATCCCTGATTCCTGGCACAGACCTCCTAAAACCCGTGTAAATTCCTGAGCAATTAGGGGTGCTAGGAGCATCTTTTCTTCTAATATTTGGTTTTTGATCCTGGTTCCTGACATGGAGCTCCTAAACCCTTGGAATTTCCTGGATAGGAGCACTTTTTGTTCTAAGGCTACTCTTGGTGGTTCCTGGATGGGGGCTGGGCACCAGAGAGACGAAGCTGTGATTAGCAGCTTGGAACTGTTAGCTCTACCCACCCCACTCCAGGAAGGACAGAGGGGGTGAAGATTGAGTTAATAATTGATTATGCCTACATGATGAAGCCTCCAAAAAATCCGTGAACTACTGGATTCAGAGGGCTTCTGGACTGCTGAGTAGATGAAGGTGCCTCAGGGGTGGTGCCCCTGGAGAGAGCATGGACGCTCCATGCCCCTGCCCACACATCTGGCCCTATGTTTCTTTCATGTGGCTGTTCATCTGCATCCTTTATAATGGGTAAACACAAGTGAAGTGTTTCCGTGAATTCTGTGAGCCATGTTAAACATTAATCAAACCCAAGGAAGCGGTCTTGGGAACCCCAGTTTATAGTTGATCACTCAGAAACACAGGTCATAACACAGGGCTTGAGATTGGTATATGAAGTGGGGAGCGGTCTTGTGGGACTGAGCCCTTAACCTGTAGGGGCTGCACTAACTCTGCTTAGTATCAGAACCAAGCTAAACTATAGGACACCCAGTTGGTGTCCAATGGTGAATTACCTGTGTGATGCTATCAAGAAAAGAAAGTAAAAAGACAACTCAGAGAATGGAAGAAAACATTTGCAAACCACATATCCAGAATTACAAATAATTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGACTCCCGAGTAGCTGGGACTATAGGTGCGCGTCACATCTGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCACTATTTTAGCCAGGCTGGTCTTGAACTCCTGACCCCATGATCCACCCGCCCGGCCTACAAATAATTCTTAAAACTTGACATTAAAAAGATAAACAACCCAATTTTACAATGGGCAAAGGATGTGAATAGCTATTTCTCCAAAGAAGATGTACAAATGGCCAATAGGCACAAGAAAAAAATGCTCGACATTAGCCATCAGGGAAATACAAATAAAAACCACAATGAAATAACATTTCATACCCACTGGGCTGGCTACAATTAAAAAAAAAAAAAAAAAGAAACACATATGACAGCAAGTGTCAGGGAGGACCTGGGGAAAGGAGAACACTCATGCACTGCCACTGAGAACGTAAAATGGGGCAGCCATTTTGGAAAACAGTCTGACAGTTCCTTAAAAGGTTAAACAGAGTTACCATATGATCCAGCAATTCTACTCCCAGGTACACATCCAAGAGAACTGAAAACATGTTCACACAAATGCTTGCATGTGAATGTTCTATAGCAGCATTATTCATAACAGTCAAAAAGTGGAAGTAACCCAAATGTACAGCAAAGCCCACAGAGATAGAAAGGATTGAGTCCAACAGAGCTTAAAGGGAAAAAAAAATCATAAAAATTTAAAAAAGAAAACAGAATAGTGGTTGCCAGGGACTGGAGGGAAGGGAAGGGAGATGAGTGCTGCTAATGGGTGGGAAGTTTTTTTATGAAGTGACAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAAACAACGACAACAGAGAGAATCAAACTGTATGTCCTAATCCTTTGGATGCTCTGGACAAGGGTCTGTGGTCTCCTCTTACCTGCATCAATGGCACACGGGTAATGGTATCGGAAGGAGCAGCCTTTGTTGTAGCAGCCCAAGGTGGCGCCTGCCTCCTGGCAGTGGGAACATTTCTGAAAGGAAGGGAAAAGTCAGGCATGTCAGTATCCCAGATTTGGCCCTCTCCTCCAGGCCTTCCCTGGTCCCCATCTGTTAGACCTCAGCACGTGTCTCTGTGGTTAGAGGAGTCCGTGGTGGCAGGATGAGCTGGTCAATTTCTAAATGCCATTCACTGACCACACCATGGGAAGGGATCCAGCAATAATGTTTTAGACCAAGCCTCACAAATGTTCTCAAATCAACAATACAGCAGGGTGAGATGAGCAATCCATGTCATAAAGGACATGCCAGAGTGGGGTCCCCAGCCCTGCCTCTGGTACCCCCGCCATCCACCCACCCACACACTATGCCAGGCATTTCCTTGCTGCTATCGTGAGCGGCCTGCAGATCTTCCCTGTTTACTTCTGCTGTGAAAATCTGGGGTAAGAGAGGGTAAGGTAGTAGAGTTATATATAAACCTTTTAGAATTAGAAGTGGAATTTGGTTTCTAGTTCTTGTATTTGTAAGAAGATTTTATTTTTATTTTTGATCTACTTACCCCAAATGCCCAATACATTTCCCTTTTCAGAAAATATGGGCTCCTGTGTGCAAATGGTATTTTTATACATGAATCTTATTTTAAATGCACCAGAAAACCTGCCATGAATTTCTGGCTAAGTGAGACATTATTTTGTAATTGAGACACTCCTCCTTATATGGTCAGGTTTTCTTAAAGTGGGGCACATCTCTGTCAGCCCTGTGATGTGGCTGCTGTGAGTGCTCATCCTGTCAGGTAAGAAATGTGTCCTATCAGCAACAAACACATTCATAAAACTCAACCACATGTGACCCTACTAAGGATGCTGGCTCTTCAGATAGCAGAGGCACACAACCAGCAAGACTAGCTGGAAGAGACAGAAACTTGTTCCTGCTTCTATGAAAAATAAAAGTGTTCCCTAAGCAATTACACTGAGCTGGCTCAGGCCCCCGACACAGATACTGATGGAAAACTACACTAACGCCAGCAACAGCAAAGCCCAAGCGCTCGCCACGCTCAGACTGAATGATCTCATCCAGCCCTCTGCACTATTCCACCTGGCAGGCACTCCTAATGCTTCACGTGAAACTCTTGAGACACCAAAGGGAAAATAACTTGTTCCAGGTCAGAGCTGAGATTCTGGATGATCATCTCTGGCATCCTCCAGAGACAAAAGAGGTAGGAACAAGGGCTGGAAGAGATTAGTCCTTCAAAAGCTTTGCCCTGCTCTCAGAAGATCAAGGTCCTTCTGGGTGCCCATAATCAGTAAATGTTTATCATGTGCCCTCGCACCCTTGTTAAGAGAGAAAAGATCATTTGGTCTGGAGTAAACCAAGGACAAGTTCACAGCATTTCTAGTAGCCCTAGACTCTGTCGACCTTTGTCAGTGCCACAGAGCATCTCAGAATCAAAAGGACTATCAACTTCAGAGAAGGGAGTGTGGGTAGTCCATCGGTGGCCAACCTGCAGCCATGTCTGCTGCCACTTTCTTTTTTTGAGATGGAGTCTTGCTTTGTCGCCCAGGCTGGAGTGCAGTAGCGCAATCTTGGCTCACTGCAACCTCTGCCTCCCAGTTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTATGCCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCATATTGGCCAAGCTGGTCTCAAACTCCTGACCTCATCGCATCTGGCCTCCTGCTGCCACTTTCTTACTCAAGAGGCCCGAAGATATGGCCCTCCCTACCCTGGGGGATGAATCACAGTGAGTGGTGGCCATTTAGGAATGGGTATGGTCAAGCATTTCTGGTAGGAAAGTCTGCAGGAAAAAGGGCTTCTGAAAACATTTTGCACTCCCCCCAACCTTTTTTTTTTTTTTTTTAATATATTTTGAGACGATGTCTTGCTCTGTCACCCAGGATGGAGTGCAGTGGCACAATCATGGCT 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TTGGATGGCACTTCTTTAACAAAATGTTTCCCTTCTTTCAACAGTTAACACACTGCAAAACATCCCCCTATCATCTCAGCAAAGAAAATACAACACTCTATTGTATGTATACAACGTACTGTGATTTAGAGTAAGAAATACATATTTTAGTCTTCATCCCTGATTCCTGGCACAGACCTCCTAAAACCCGTGTAAATTCCTGAGCAATTAGGGGTGCTAGGAGCATCTTTTCTTCTAATATTTGGTTTTTGATCCTGGTTCCTGACATGGAGCTCCTAAACCCTTGGAATTTCCTGGATAGGAGCACTTTTTGTTCTAAGGCTACTCTTGGTGGTTCCTGGATGGGGGCTGGGCACCAGAGAGACGAAGCTGTGATTAGCAGCTTGGAACTGTTAGCTCTACCCACCCCACTCCAGGAAGGACAGAGGGGGTGAAGATTGAGTTAATAATTGATTATGCCTACATGATGAAGCCTCCAAAAAATCCGTGAACTACTGGATTCAGAGGGCTTCTGGACTGCTGAGTAGATGAAGGTGCCTCAGGGGTGGTGCCCCTGGAGAGAGCATGGACGCTCCATGCCCCTGCCCACACATCTGGCCCTATGTTTCTTTCATGTGGCTGTTCATCTGCATCCTTTATAATGGGTAAACACAAGTGAAGTGTTTCCGTGAATTCTGTGAGCCATGTTAAACATTAATCAAACCCAAGGAAGCGGTCTTGGGAACCCCAGTTTATAGTTGATCACTCAGAAACACAGGTCATAACACAGGGCTTGAGATTGGTATATGAAGTGGGGAGCGGTCTTGTGGGACTGAGCCCTTAACCTGTAGGGGCTGCACTAACTCTGCTTAGTATCAGAACCAAGCTAAACTATAGGACACCCAGTTGGTGTCCAATGGTGAATTACCTGTGTGATGCTATCAAGAAAAGAAAGTAAAAAGACAACTCAGAGAATGGAAGAAAACATTTGCAAACCACATATCCAGAATTACAAATAATTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGACTCCCGAGTAGCTGGGACTATAGGTGCGCGTCACATCTGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCACTATTTTAGCCAGGCTGGTCTTGAACTCCTGACCCCATGATCCACCCGCCCGGCCTACAAATAATTCTTAAAACTTGACATTAAAAAGATAAACAACCCAATTTTACAATGGGCAAAGGATGTGAATAGCTATTTCTCCAAAGAAGATGTACAAATGGCCAATAGGCACAAGAAAAAAATGCTCGACATTAGCCATCAGGGAAATACAAATAAAAACCACAATGAAATAACATTTCATACCCACTGGGCTGGCTACAATTAAAAAAAAAAAAAAAAAGAAACACATATGACAGCAAGTGTCAGGGAGGACCTGGGGAAAGGAGAACACTCATGCACTGCCACTGAGAACGTAAAATGGGGCAGCCATTTTGGAAAACAGTCTGACAGTTCCTTAAAAGGTTAAACAGAGTTACCATATGATCCAGCAATTCTACTCCCAGGTACACATCCAAGAGAACTGAAAACATGTTCACACAAATGCTTGCATGTGAATGTTCTATAGCAGCATTATTCATAACAGTCAAAAAGTGGAAGTAACCCAAATGTACAGCAAAGCCCACAGAGATAGAAAGGATTGAGTCCAACAGAGCTTAAAGGGAAAAAAAAATCATAAAAATTTAAAAAAGAAAACAGAATAGTGGTTGCCAGGGACTGGAGGGAAGGGAAGGGAGATGAGTGCTGCTAATGGGTGGGAAGTTTTTTTATGAAGTGACAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAAACAACGACAACAGAGAGAATCAAACTGTATGTCCTAATCCTTTGGATGCTCTGGACAAGGGTCTGTGGTCTCCTCTTACCTGCATCAATGGCACACGGGTAATAGTATCGGAAGGAGCAGCCTTTGTTGTAGCAGCCCAAGGTGGCGCCTGCCTCCTGGCAGTGGGAACATTTCTGAAAGGAAGGGAAAAGTCAGGCATGTCAGTATCCCAGATTTGGCCCTCTCCTCCAGGCCTTCCCTGGTCCCCATCTGTTAGACCTCAGCACGTGTCTCTGTGGTTAGAGGAGTCCGTGGTGGCAGGATGAGCTGGTCAATTTCTAAATGCCATTCACTGACCACACCATGGGAAGGGATCCAGCAATAATGTTTTAGACCAAGCCTCACAAATGTTCTCAAATCAACAATACAGCAGGGTGAGATGAGCAATCCATGTCATAAAGGACATGCCAGAGTGGGGTCCCCAGCCCTGCCTCTGGTACCCCCGCCATCCACCCACCCACACACTATGCCAGGCATTTCCTTGCTGCTATCGTGAGCGGCCTGCAGATCTTCCCTGTTTACTTCTGCTGTGAAAATCTGGGGTAAGAGAGGGTAAGGTAGTAGAGTTATATATAAACCTTTTAGAATTAGAAGTGGAATTTGGTTTCTAGTTCTTGTATTTGTAAGAAGATTTTATTTTTATTTTTGATCTACTTACCCCAAATGCCCAATACATTTCCCTTTTCAGAAAATATGGGCTCCTGTGTGCAAATGGTATTTTTATACATGAATCTTATTTTAAATGCACCAGAAAACCTGCCATGAATTTCTGGCTAAGTGAGACATTATTTTGTAATTGAGACACTCCTCCTTATATGGTCAGGTTTTCTTAAAGTGGGGCACATCTCTGTCAGCCCTGTGATGTGGCTGCTGTGAGTGCTCATCCTGTCAGGTAAGAAATGTGTCCTATCAGCAACAAACACATTCATAAAACTCAACCACATGTGACCCTACTAAGGATGCTGGCTCTTCAGATAGCAGAGGCACACAACCAGCAAGACTAGCTGGAAGAGACAGAAACTTGTTCCTGCTTCTATGAAAAATAAAAGTGTTCCCTAAGCAATTACACTGAGCTGGCTCAGGCCCCCGACACAGATACTGATGGAAAACTACACTAACGCCAGCAACAGCAAAGCCCAAGCGCTCGCCACGCTCAGACTGAATGATCTCATCCAGCCCTCTGCACTATTCCACCTGGCAGGCACTCCTAATGCTTCACGTGAAACTCTTGAGACACCAAAGGGAAAATAACTTGTTCCAGGTCAGAGCTGAGATTCTGGATGATCATCTCTGGCATCCTCCAGAGACAAAAGAGGTAGGAACAAGGGCTGGAAGAGATTAGTCCTTCAAAAGCTTTGCCCTGCTCTCAGAAGATCAAGGTCCTTCTGGGTGCCCATAATCAGTAAATGTTTATCATGTGCCCTCGCACCCTTGTTAAGAGAGAAAAGATCATTTGGTCTGGAGTAAACCAAGGACAAGTTCACAGCATTTCTAGTAGCCCTAGACTCTGTCGACCTTTGTCAGTGCCACAGAGCATCTCAGAATCAAAAGGACTATCAACTTCAGAGAAGGGAGTGTGGGTAGTCCATCGGTGGCCAACCTGCAGCCATGTCTGCTGCCACTTTCTTTTTTTGAGATGGAGTCTTGCTTTGTCGCCCAGGCTGGAGTGCAGTAGCGCAATCTTGGCTCACTGCAACCTCTGCCTCCCAGTTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTATGCCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCATATTGGCCAAGCTGGTCTCAAACTCCTGACCTCATCGCATCTGGCCTCCTGCTGCCACTTTCTTACTCAAGAGGCCCGAAGATATGGCCCTCCCTACCCTGGGGGATGAATCACAGTGAGTGGTGGCCATTTAGGAATGGGTATGGTCAAGCATTTCTGGTAGGAAAGTCTGCAGGAAAAAGGGCTTCTGAAAACATTTTGCACTCCCCCCAACCTTTTTTTTTTTTTTTTTAATATATTTTGAGACGATGTCTTGCTCTGTCACCCAGGATGGAGTGCAGTGGCACAATCATGGCT 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Task1_train_28874 | Gene RRP7A (ribosomal RNA processing 7 homolog A), found on Chromosome 22, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Microcephaly 28, primary, autosomal recessive | AGACCCGAGGGGTGGCCTGGTCCTTCCCTCCTGGCCTGTGTGGACTCTGATGGGGCTGTTGGACGCGGTGGCCTTCAACCTGGGGCCCGTTGGCCAGAGCTCGGCCTCTCAGAGACCGCTGCAGGCCCTGCCTCGCCTCCTCCTGGCCCTGCACCTCCAGCCATTCACTGCGGCTCTCACAGCTCAGTACGGTCGGAATTTGCGCTGGGCCCGCAGCAGCTCGATCCTCTGCTTGTCCTCCTCGAACTTCTTGCGCAGCTGCGCTAGATCTGGGGGTGAGAGGAGGCGCGGGGCAGGGTCAGACAGCGCGCCCCGGGGAAGCTGGCTTGCTCATGCCCCACCCCTCCTCCCAGTTACTGTGGGGGTGGGGCTATGTCTCCCCCACCAGCCCATCCCCCTCCCAGCTCTGCTGTGGGGGCAGGGTCTGGATCTTGTCAGGAAACAGAACCGACGGCAGGCCGAGTCCAAGGGCAAGGCCAAAGTGGGAGATGCTGGCACCCCCAGCCTGGAGATGAAGCCCTAGCGACAAAGCAAAGGTACCCGCCCCCACCCCCATCCCTGCACAGGGGGAAGGAAGGAGTCTTGAGCGCTCGGCCTGGAGAACCCTGAGAATCAGTAAAGGCACCCCAGCCCTTGTGCTGGTGAATGCAGATGGCAACCCTGGTCAGTGGGAGGCTGATGGCACTGAGGGGGAAGCTGAGGGTCTAGAGCGAGCACGAGCGGGAGCCAGGAGGGCCAGCCAGGCAGGGAAAGCACCAGTGACTGGGCGGGCGGCTCAGGGCCTGCCGCAGAGCCCGTCCCTGTGCCCTAGCCAGGGCCAGGAGAACCCTCCCCTGGGCCCACAGGGAAGCTGTTCTGTAGACAGGGACACCAGGCAGTGGGGCAGGAGGCTCAGCCGCAGCACCAGGAGTGGGCCACAGGCGATCGGGCCCACAGGCATGGGAGGGTCCTGTGCGGGGCCACCTGACAGACACACACACACACACACCCACCACCAACCCAACACACATACTCTGCAGCACCTTCTCTGCACCCACAGTGGGTTCAGAAGCCCCCTCTGCACTTGAACTCCTCGTTAGCTGGAGGCTGACGAGCGCCAGCACTAAGTGCACAGGGACCCAGAGGTGGGCACTGATGACCTAGGGTCCCCACCCACTGAGCAAATGCATCTGCCCCTAGGGGGTGATGGGGAACCGCCACACAGGGTGCTGCCAGGCTGGGCCTCTTTCCACAGAGTCTGGTGCGAGCCCCGTGCTTAGGGACGCCCTCCCTCCTCGACCACCAAGTCCAGCGCCCGCCCTCAGGAGCACTGGCCACAGGCCTCATCCGTGGCTGGGGCCAAGGCCGAGGGGTCTGAGGATGGACTGGGGGTGGCTTACGCTCCATCTTGCTCTCTCGATGCTGCCAGGCGTAGAAGTTGAGCAGCTCTTTTCGGCTGCGCTTCCGTCTCTCCCTCTCCAGCACCCGCAAGCTGGCTGCCTCAGTCCGGGGGAGCACAGGCCGCCGGCCCCGGCGGGTCACCTTCACCCAGCCCTCCTCGTCAGGGACCCCCTCCTCCTCCTTGGCCTTAGCTTCTTCCTGCAAGGAAGGTGATCCCATCCTCCGGTGGGACCTCCTGCAGCCTCCAGCAGCGCGCCCTCCACGCCCTCCTCCCAAAGTCAGAACTGCCCTGAGCCCCCGCAGGGGAGGGCTGCTCCCCTCCTCCCAGCACAGTGTTGGGGCTAAGGATGGCGGGGAGGGCACGGACCTGCCGGCACTGCCTCCTTCTCCACTGTAGGACATGTGGAGACTACATGTGTCACCCAGCCAGGCAGCCCAGGATCCAGCAGGGAAACAGGGAGCCTGGCCTCTACAGAGTGGCCAAGGACAGGCCACCACTGCCCTCCCTCTGGGGCGCCACCTTCCCACAGCCACACGGGCGATGCGGGGCTCGGCCGACCCCGCGGGGCCTCTACCTCAGCGATCTTCTGGTCATATGCCTCCATGAACGTGTCCACTTCCACCCTCAGGGCCTCAGGGTCGGGCACAGAGTCTGCGTAGTCACTGATCCACTCTGAGGAAAAGGGAGCCAGGGAAACGGGGCTTCCTCAGGCCTGGCATTTGGGCCCCACCCCAGGGCCTGCCAGGCAAATTGGGACCTTTTCCCACAGGGCCCGGGGCACAGGTGCTAAGGAGATCCCAGGGGCTGCAAGCTGCGCCCTCGCTCTGCCTGCCCAGTATGCCTGTGCCGCTCTGTGCCAGGGGCTCAGGCTAATGACTCCCTGGGGACCCAGACACAGCCCCATGGTCCTCCTGCCCAGGCCTCCACATGCTGCTCTCAGGGAGCATGGACTTGGCTTGTGACATTCAGACACTGTCCCCATAGAGTGTCCTGCCAACCCGGAGCCCAGAAAGGAGGCGCCAGACCCCTCCCGCAGTACTAACTGTGAATGCCACTCTTCACAGGGTGGCTCTCTGTGGACACCAGCAGGGGGCCCTTCAGGGCCAAGGCCGCTGACACCCCACTTGGCTTCTGGAACACCACATAGGCTACCTGGAAACCCTGAAGAGAGAGAGATGTCAGAGGTTGGGGGCTCCTTCCCACGTCTGGCACAAGGTCTCCAGGCCTGCCCTCAGCCTAGGTGGTAGCTACACCAGGGGAGATGGTGCTAGGCTATTCCTGAGCCATGAAGAGAACCACAGGCCATCCCATAATCCAGGTCAGAGGCAGCCACACTTCCAGTAATCCTGCTTCTGCGGGAAGTGACGGCTGTTCCCAACTCCTCCCCAGGAAGAGGGGATACAGAGGCTTCTTTTCTTCCAGTCACGGGAGGGATGCGGTGAAACACAGGGGTCGCCCTGGGCCAGGGCAGGTTTTTGGAAGCCAGGCCTGGGCGCACACACCATGCCAGATGCCACTGTGTGGGGAGGAGGTGTGGGCTCCAGGGCCACTGGGAAAGCTGTGAACAACAGTGCTCCTGGAGACCCGGCCCCCAAGCCTGGGGAAGGAGCTCCCTCAGTGGGGAAGCAGGAGGGGAGCCGGGGAAGGCCCTGCAGGTGGCCAGCAGAGACGGTCCGTGAGCTTTAACACGGGACAGAAAAAGCCAGGCAGGAAGTGCAAGGATGTGGCAAATCTGGCAAAGAATCGCAGGCTTTGTCACCCAGACAGTCTCTTACACCACACACGGTGAGGATGGGCTCAGGACCAGAGAATGCTCTGATGTCCCACTGCCAGCTCCCCCAACACACTGGGGACAGTGCCCCACCCCCCTCACTCTAGTGGAACCCCGGGCTTGGCGGCTCACCGGAACTGGCTTGGGATGAAAAAACTTCGACCTTGACTCCTTTGGGCTCTCAGCCAGGTCCGGCTTCTCCTGCAACTCTACAGACTGGACGAGGCCACAGGTGGACAGGAGGCGGGACAGGCTCTCCTGCCGCAGGGAGAGGGAAGCCAAGTGTGAGCATCCGCAGGGCCATCCCAAAGCCTCCCTGCACCATGGGTGGCGCTGCCAGGGGTCCAGCGCCGCTGAAGGACTCAGCCACAGCCACATCTGCCCAAGCCGGGAGACTGTGGGCACCATGGCCTCCGACCTGTTCCCCAGGGACAATATGGAGGTTGATATTCCTGCTCTTTTTTTTTTTTGAGTTGGAGTATTGCTCTGTAGCCCAGGCTGGAGTCCTGCAACCTCCACCTTCGGGTTGCAAGTGATTCTCATGCCTCAGTCTCCCGAGCAGCTGGGATTACAAGCGCCCACCACCACCACACGTGGCTAATTTTTGTATTTTGAGAAGAGACAGGGTTCTGCCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCATATTCCTGCTCTCTCACTGGAGACAGGTGGGGACATTCTTGCTGTTATTCTGATTTCCTATGACAAGTTTTACTACCTGAATCAGCAGTAGTGACCCTATGCTATGACAGTTGGGATGGTGGTTGTCTGTGGTGGAGGCAGCGGGGGTTCTGGGATGTGCTGCTGTGTCTCCACCTGGGCGCTGACTACACAGCTATGTTCTGTCTCTGG 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AGACCCGAGGGGTGGCCTGGTCCTTCCCTCCTGGCCTGTGTGGACTCTGATGGGGCTGTTGGACGCGGTGGCCTTCAACCTGGGGCCCGTTGGCCAGAGCTCGGCCTCTCAGAGACCGCTGCAGGCCCTGCCTCGCCTCCTCCTGGCCCTGCACCTCCAGCCATTCACTGCGGCTCTCACAGCTCAGTACGGTCGGAATTTGCGCTGGGCCCGCAGCAGCTCGATCCTCTGCTTGTCCTCCTCGAACTTCTTGCGCAGCTGCGCTAGATCTGGGGGTGAGAGGAGGCGCGGGGCAGGGTCAGACAGCGCGCCCCGGGGAAGCTGGCTTGCTCATGCCCCACCCCTCCTCCCAGTTACTGTGGGGGTGGGGCTATGTCTCCCCCACCAGCCCATCCCCCTCCCAGCTCTGCTGTGGGGGCAGGGTCTGGATCTTGTCAGGAAACAGAACCGACGGCAGGCCGAGTCCAAGGGCAAGGCCAAAGTGGGAGATGCTGGCACCCCCAGCCTGGAGATGAAGCCCTAGCGACAAAGCAAAGGTACCCGCCCCCACCCCCATCCCTGCACAGGGGGAAGGAAGGAGTCTTGAGCGCTCGGCCTGGAGAACCCTGAGAATCAGTAAAGGCACCCCAGCCCTTGTGCTGGTGAATGCAGATGGCAACCCTGGTCAGTGGGAGGCTGATGGCACTGAGGGGGAAGCTGAGGGTCTAGAGCGAGCACGAGCGGGAGCCAGGAGGGCCAGCCAGGCAGGGAAAGCACCAGTGACTGGGCGGGCGGCTCAGGGCCTGCCGCAGAGCCCGTCCCTGTGCCCTAGCCAGGGCCAGGAGAACCCTCCCCTGGGCCCACAGGGAAGCTGTTCTGTAGACAGGGACACCAGGCAGTGGGGCAGGAGGCTCAGCCGCAGCACCAGGAGTGGGCCACAGGCGATCGGGCCCACAGGCATGGGAGGGTCCTGTGCGGGGCCACCTGACAGACACACACACACACACACCCACCACCAACCCAACACACATACTCTGCAGCACCTTCTCTGCACCCACAGTGGGTTCAGAAGCCCCCTCTGCACTTGAACTCCTCGTTAGCTGGAGGCTGACGAGCGCCAGCACTAAGTGCACAGGGACCCAGAGGTGGGCACTGATGACCTAGGGTCCCCACCCACTGAGCAAATGCATCTGCCCCTAGGGGGTGATGGGGAACCGCCACACAGGGTGCTGCCAGGCTGGGCCTCTTTCCACAGAGTCTGGTGCGAGCCCCGTGCTTAGGGACGCCCTCCCTCCTCGACCACCAAGTCCAGCGCCCGCCCTCAGGAGCACTGGCCACAGGCCTCATCCGTGGCTGGGGCCAAGGCCGAGGGGTCTGAGGATGGACTGGGGGTGGCTTACGCTCCATCTTGCTCTCTCGATGCTGCCAGGCGTAGAAGTTGAGCAGCTCTTTTCGGCTGCGCTTCCGTCTCTCCCTCTCCAGCACCCGCAAGCTGGCTGCCTCAGTCCGGGGGAGCACAGGCCGCCGGCCCCGGCGGGTCACCTTCACCCAGCCCTCCTCGTCAGGGACCCCCTCCTCCTCCTTGGCCTTAGCTTCTTCCTGCAAGGAAGGTGATCCCATCCTCCGGTGGGACCTCCTGCAGCCTCCAGCAGCGCGCCCTCCACGCCCTCCTCCCAAAGTCAGAACTGCCCTGAGCCCCCGCAGGGGAGGGCTGCTCCCCTCCTCCCAGCACAGTGTTGGGGCTAAGGATGGCGGGGAGGGCACGGACCTGCCGGCACTGCCTCCTTCTCCACTGTAGGACATGTGGAGACTACATGTGTCACCCAGCCAGGCAGCCCAGGATCCAGCAGGGAAACAGGGAGCCTGGCCTCTACAGAGTGGCCAAGGACAGGCCACCACTGCCCTCCCTCTGGGGCGCCACCTTCCCACAGCCACACGGGCGATGCGGGGCTCGGCCGACCCCGCGGGGCCTCTACCTCAGCGATCTTCTGGTCATATGCCTCCATGAACGTGTCCACTTCCACCCTCAGGGCCTCAGGGTCGGGCACAGAGTCTGCGTAGTCACTGATGCACTCTGAGGAAAAGGGAGCCAGGGAAACGGGGCTTCCTCAGGCCTGGCATTTGGGCCCCACCCCAGGGCCTGCCAGGCAAATTGGGACCTTTTCCCACAGGGCCCGGGGCACAGGTGCTAAGGAGATCCCAGGGGCTGCAAGCTGCGCCCTCGCTCTGCCTGCCCAGTATGCCTGTGCCGCTCTGTGCCAGGGGCTCAGGCTAATGACTCCCTGGGGACCCAGACACAGCCCCATGGTCCTCCTGCCCAGGCCTCCACATGCTGCTCTCAGGGAGCATGGACTTGGCTTGTGACATTCAGACACTGTCCCCATAGAGTGTCCTGCCAACCCGGAGCCCAGAAAGGAGGCGCCAGACCCCTCCCGCAGTACTAACTGTGAATGCCACTCTTCACAGGGTGGCTCTCTGTGGACACCAGCAGGGGGCCCTTCAGGGCCAAGGCCGCTGACACCCCACTTGGCTTCTGGAACACCACATAGGCTACCTGGAAACCCTGAAGAGAGAGAGATGTCAGAGGTTGGGGGCTCCTTCCCACGTCTGGCACAAGGTCTCCAGGCCTGCCCTCAGCCTAGGTGGTAGCTACACCAGGGGAGATGGTGCTAGGCTATTCCTGAGCCATGAAGAGAACCACAGGCCATCCCATAATCCAGGTCAGAGGCAGCCACACTTCCAGTAATCCTGCTTCTGCGGGAAGTGACGGCTGTTCCCAACTCCTCCCCAGGAAGAGGGGATACAGAGGCTTCTTTTCTTCCAGTCACGGGAGGGATGCGGTGAAACACAGGGGTCGCCCTGGGCCAGGGCAGGTTTTTGGAAGCCAGGCCTGGGCGCACACACCATGCCAGATGCCACTGTGTGGGGAGGAGGTGTGGGCTCCAGGGCCACTGGGAAAGCTGTGAACAACAGTGCTCCTGGAGACCCGGCCCCCAAGCCTGGGGAAGGAGCTCCCTCAGTGGGGAAGCAGGAGGGGAGCCGGGGAAGGCCCTGCAGGTGGCCAGCAGAGACGGTCCGTGAGCTTTAACACGGGACAGAAAAAGCCAGGCAGGAAGTGCAAGGATGTGGCAAATCTGGCAAAGAATCGCAGGCTTTGTCACCCAGACAGTCTCTTACACCACACACGGTGAGGATGGGCTCAGGACCAGAGAATGCTCTGATGTCCCACTGCCAGCTCCCCCAACACACTGGGGACAGTGCCCCACCCCCCTCACTCTAGTGGAACCCCGGGCTTGGCGGCTCACCGGAACTGGCTTGGGATGAAAAAACTTCGACCTTGACTCCTTTGGGCTCTCAGCCAGGTCCGGCTTCTCCTGCAACTCTACAGACTGGACGAGGCCACAGGTGGACAGGAGGCGGGACAGGCTCTCCTGCCGCAGGGAGAGGGAAGCCAAGTGTGAGCATCCGCAGGGCCATCCCAAAGCCTCCCTGCACCATGGGTGGCGCTGCCAGGGGTCCAGCGCCGCTGAAGGACTCAGCCACAGCCACATCTGCCCAAGCCGGGAGACTGTGGGCACCATGGCCTCCGACCTGTTCCCCAGGGACAATATGGAGGTTGATATTCCTGCTCTTTTTTTTTTTTGAGTTGGAGTATTGCTCTGTAGCCCAGGCTGGAGTCCTGCAACCTCCACCTTCGGGTTGCAAGTGATTCTCATGCCTCAGTCTCCCGAGCAGCTGGGATTACAAGCGCCCACCACCACCACACGTGGCTAATTTTTGTATTTTGAGAAGAGACAGGGTTCTGCCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCATATTCCTGCTCTCTCACTGGAGACAGGTGGGGACATTCTTGCTGTTATTCTGATTTCCTATGACAAGTTTTACTACCTGAATCAGCAGTAGTGACCCTATGCTATGACAGTTGGGATGGTGGTTGTCTGTGGTGGAGGCAGCGGGGGTTCTGGGATGTGCTGCTGTGTCTCCACCTGGGCGCTGACTACACAGCTATGTTCTGTCTCTGG 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Task1_train_28875 | Given a variant located on Chromosome 22 and affecting CYB5R3 (cytochrome b5 reductase 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Deficiency of cytochrome-b5 reductase | GCAAGTCTCCGGAGCACCAGCCTAGCCCCGCCTCCCTCTCCAGCCTCATCGTTGCTGCCCCTTCCAGCCACCTATCTTCTTCGATCTGTTTCTGAAAGTTTATTCCACAAGCTGGTTCCAACGGCAGGGCCTTTGCGTCTGCTGTTTCCACCATTTGAACACCCACCCACCCCAGCATGGCCAGCTCTCTCTTCCCGTCCCAGCCCAAATCCATCTCCTTGGGGCCTTCCTGCTGCCCCGTTTTAAGAACAGCCCCACACCCACCTTGCCTCATCACCTCTGTAATTTACCACCATGCAGATGGCATCCTCTGACTTTCCTGAGCCTCGAGGCTCATCTGACCCTGACAGGAGGCAGCAGCCTCGCGGTGCATTGGGGTGACTGGGGTTGCGTGGTTTCAGCTGGTTTGCCTCTGGGGGTTGGGAATTTTTCTTCCTGTGTATACTTCTCTGCACTTTCCAAATTTTCTACCACAAAGATACATCAGAAATAAATGCTGGAGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAATACAAAAACTAGCTGGGTGTGGTGGTGGGCACTTTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAGAGGTGGAGGTTGTAGTGAGCTGAGATCATGCCACTCCAGCCTGGGTGACAAAGGGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAAAAAAATGCTAGGTCTTCCCCAGCCCTTTCCTGACCCCACCCCTTGTGTTGCAGGTCACAGACCCTCGAGGAGCTAGAGAAGGGTTAATATTAGCAAAGTTTTACTTTTTTTTTTTCTGCTCATAAATGACTCTGAAAAAGCCAATACGCAAGAGGCTAACACAACTGTAGTCTAAAGGCAACGTCGAGGTCACTGATATGTCCCTCAGACAAGAGGCACTGCTCAGAATCCCCCTGTGCTGGGGGTGAGGGAAGGAGGGGACGGTTTAGGACAGAGGAATAAATACATGTGGTTGTGGGAGTTCTGCCATCAGGGATGGTGGCCCCAGCCCAGGACCCCAAAACCCTGAGGCGGTGCAGTGGGCTGCCAACCCCCCAGCTCGGGGTTCCCCAAGGCTGCCTCAGTGTTTGGATGGGCTGGAAGGAAATGCTGAGGTTCTGGGAGGGCCCCATGGCCAGCCCCCTCTTCCCACTCTAGCCAGAGGAGAGCCAAGCTCCCGGCTGGCCAGGGCCCTGGGGTAGGGAGCAGTGCCCCCAAGAGGGCTTTCTGGTGTCAATGTCTCATGCAGCGTCAGGTGGTGAGGCCTGGGCCTGGCCCTGAGGCGGGAGTGGGGGTGACAGGCGAGGCTGGGGTGGGCCCTGGCACCTGCAGCTTTGGGCTGCCCATGTGTGTCTGCTGACATCCCGACTATGGTCCACGGCCGGGAATGGTGGGCAGACGGGGCTGCTGGCAGCCCTCAGCCTTATAGTGTGTGTGGGGGGTGGACGAGGGGTCATGAGGACAGGGATGGGGCTGGGCGTCTCTGGTAAGGACCAGTAAGTGCCAGGCAGGACGTACTCTGAAGGCTCAGCCGTGGCCCATCTGGGACACAGCCCTGCTCCCGAAGGGGCTCCAGGGGAACTGCTCAGCCAGGTGATTCACCAGGGCACGGGCAGGCCAGGCTGAACCCGGGGCCCCAGTGTGCGATGTGGGGAGGTGACTGGGTGAGCGTGAACAGGGCGTGGGGTGCGCGGGGCGGGTGGCCGTGTGACCGTGCCCGGCCCTCAGAAGACGAAGCAGCGCTCCGTGGGGTGGCCCACGTGGTCCAGGTTGGGAAGGCAGGCGTACTGGATCATGGGTGGGGGGCCACACATCAGCACCAGCGGCTCCTCCTCTGGGGGTGGAAGGTGGTCCCGGATCATCTCCTCATTCACGAAGCCCTGGCCGTAGTCCCAGGCTGTGGGGTGAGAGACCAGGTAAGCTGACGTGTGGCTGTGTGGTCACCAACCTGCTGACCGACCAACCCTAGGCGGTGAATTCCTTAAATGCTGAAGAATGGAGAGGCTGATCCCAGCAAACTGTCACCAGGACCCCCTGCCCCCAACCCTGACTCAAGCCTATGGCCTCAGGCCCTGCAGCCTGAAACCAGTGTACAAAGCCCATCATGGTTCCCCTGACTGCACTTTACAGTTTGCAAAGCCTTTTGCTTCCATTTGGCCTCCGGGGTGTCCCTTGGAACAACCCAGTGGGTGGACAGGGCGGGGAATATGAATCCCATTTTACAGATGTGGCAACTGAGGCCCAGAGGACCCAGAGTTGAGTTGCTCAAGATCACACAATGAGGCAGGGACACGACTGAGATGTACCTTCCAGGATCCAGAGGTCCCCAGGCTGGTGCTCTGCCCCAGGCTGCTCAGGGTGACAGTCTCTAACTGCCCCCACCTCCATGAGCCCACTGTGACTCCCCAAGAATGTCGGCCCATGAGGAACTGAGTCTCATCCACAGCTGTGTGTCCTGCCCCCTCGAGCCCTGAGCGCCCACGATGATATGGCTGGTCTCTATCCTTAGTAACCAGAAACAACCACCCCACAGCCCTCAACACCAAGAGAAAAGCTGCTGAAGCCTCAGGCCAGGAGGGCTGGCACTGGCTGACACAGACACCCTGCCTAGATGGCCCAAGTTTACAGCATACACTCCACGCTGTGAAGGTCCTGACGGGGAGGGGCCAAAGCAGTCCCGCTTGCCCTGGAACCAGGAAGAGTCTACTGTGCTGAGCAAGGGGGTCCTCTTTATCTCATGGACTCCATGAGCTAAGTCACTGACCACATTTCCCTTTTCACCTTGGCTGCTGGGAAGCCTGGAGTGATACGTGTGGCCCATTCACAGCAAGCGTACATTATAGTCCGTTTTTGTACAAATCCCAGTACTGATTCCATTCATTTTATAGCCCTGCACTTGTTTTTCTTTCACTCCCACTTTCCATTTGTGCCACTCTGACTCACCAGATGAGTCTTTGTAAGCCTCCTAAAATCCCTCTGGAACAAGGCGAGGCACAGAAAATAGTTTTATAGCTGGGCAATGGATCTGAAGTGGATCTGAAAGTACCTTGTAAAAACTGCATGGGCATAAACTGCTAGTGTACAAAATGTGCAGGTATGTAAGACACCTTTCAATTTCACAGCGATTTCTTTTTAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTTAAGAGACAGGAATTGGCTATGTTGCCCCAGCTGGCAGGCAGTGGCTATTCACAGGTGTGATCATAATGCCCTCCAGCCTGGAGCTCCTGGGCTCATGTGATCCTCTTGCCTTAGCTTTGAATAGCTGGGACTACAGGTGCATGCCACCGTGCATGGCTTAATGTATTTTTCCCTGTACCTGTCCTGAAAGTGGCTCTGTGGGGGAAATACTCACTGCCCCTGCCTGGAGTCCTTGGGGCTCTCCTCATCCTTCGCTTAGCTACGGTACAGCCAGACTGGCCTGTTACCACTTTCTTTCTCAACCTCTGGAATTTCAGCTTACATTTAATGCTACAGCAGTACCTCAACTAATCTTGAATTGTGGGTCACAGTGGCAACAAATGTACACGAAAAATGCTAGGAGATCACCCAACTATTCCTCTCATTGGCAGGTAACTGTCCCGTGGTGGTGGTGCAGGTGCTGCTGCCTGTTGCCACCAGGGGTCAGCACTGGCCCCTCCCTGGGGGACCAGGCCTCGCTCTGGCCACAGGGCAGGGGCTCCTGCACGCACCAGGGATCTGGATCACTCATCTGGAATTGGGATGGGGCTAAACCCTGCCTCGCAGCAAGCTGGCCCCGCCCATGCCA 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GCAAGTCTCCGGAGCACCAGCCTAGCCCCGCCTCCCTCTCCAGCCTCATCGTTGCTGCCCCTTCCAGCCACCTATCTTCTTCGATCTGTTTCTGAAAGTTTATTCCACAAGCTGGTTCCAACGGCAGGGCCTTTGCGTCTGCTGTTTCCACCATTTGAACACCCACCCACCCCAGCATGGCCAGCTCTCTCTTCCCGTCCCAGCCCAAATCCATCTCCTTGGGGCCTTCCTGCTGCCCCGTTTTAAGAACAGCCCCACACCCACCTTGCCTCATCACCTCTGTAATTTACCACCATGCAGATGGCATCCTCTGACTTTCCTGAGCCTCGAGGCTCATCTGACCCTGACAGGAGGCAGCAGCCTCGCGGTGCATTGGGGTGACTGGGGTTGCGTGGTTTCAGCTGGTTTGCCTCTGGGGGTTGGGAATTTTTCTTCCTGTGTATACTTCTCTGCACTTTCCAAATTTTCTACCACAAAGATACATCAGAAATAAATGCTGGAGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAATACAAAAACTAGCTGGGTGTGGTGGTGGGCACTTTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAGAGGTGGAGGTTGTAGTGAGCTGAGATCATGCCACTCCAGCCTGGGTGACAAAGGGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAAAAAAATGCTAGGTCTTCCCCAGCCCTTTCCTGACCCCACCCCTTGTGTTGCAGGTCACAGACCCTCGAGGAGCTAGAGAAGGGTTAATATTAGCAAAGTTTTACTTTTTTTTTTTCTGCTCATAAATGACTCTGAAAAAGCCAATACGCAAGAGGCTAACACAACTGTAGTCTAAAGGCAACGTCGAGGTCACTGATATGTCCCTCAGACAAGAGGCACTGCTCAGAATCCCCCTGTGCTGGGGGTGAGGGAAGGAGGGGACGGTTTAGGACAGAGGAATAAATACATGTGGTTGTGGGAGTTCTGCCATCAGGGATGGTGGCCCCAGCCCAGGACCCCAAAACCCTGAGGCGGTGCAGTGGGCTGCCAACCCCCCAGCTCGGGGTTCCCCAAGGCTGCCTCAGTGTTTGGATGGGCTGGAAGGAAATGCTGAGGTTCTGGGAGGGCCCCATGGCCAGCCCCCTCTTCCCACTCTAGCCAGAGGAGAGCCAAGCTCCCGGCTGGCCAGGGCCCTGGGGTAGGGAGCAGTGCCCCCAAGAGGGCTTTCTGGTGTCAATGTCTCATGCAGCGTCAGGTGGTGAGGCCTGGGCCTGGCCCTGAGGCGGGAGTGGGGGTGACAGGCGAGGCTGGGGTGGGCCCTGGCACCTGCAGCTTTGGGCTGCCCATGTGTGTCTGCTGACATCCCGACTATGGTCCACGGCCGGGAATGGTGGGCAGACGGGGCTGCTGGCAGCCCTCAGCCTTATAGTGTGTGTGGGGGGTGGACGAGGGGTCATGAGGACAGGGATGGGGCTGGGCGTCTCTGGTAAGGACCAGTAAGTGCCAGGCAGGACGTACTCTGAAGGCTCAGCCGTGGCCCATCTGGGACACAGCCCTGCTCCCGAAGGGGCTCCAGGGGAACTGCTCAGCCAGGTGATTCACCAGGGCACGGGCAGGCCAGGCTGAACCCGGGGCCCCAGTGTGCGATGTGGGGAGGTGACTGGGTGAGCGTGAACAGGGCGTGGGGTGCGCGGGGCGGGTGGCCGTGTGACCGTGCCCGGCCCTCAGAAGACGAAGCAGCGCTCCGTGGGGTGGTCCACGTGGTCCAGGTTGGGAAGGCAGGCGTACTGGATCATGGGTGGGGGGCCACACATCAGCACCAGCGGCTCCTCCTCTGGGGGTGGAAGGTGGTCCCGGATCATCTCCTCATTCACGAAGCCCTGGCCGTAGTCCCAGGCTGTGGGGTGAGAGACCAGGTAAGCTGACGTGTGGCTGTGTGGTCACCAACCTGCTGACCGACCAACCCTAGGCGGTGAATTCCTTAAATGCTGAAGAATGGAGAGGCTGATCCCAGCAAACTGTCACCAGGACCCCCTGCCCCCAACCCTGACTCAAGCCTATGGCCTCAGGCCCTGCAGCCTGAAACCAGTGTACAAAGCCCATCATGGTTCCCCTGACTGCACTTTACAGTTTGCAAAGCCTTTTGCTTCCATTTGGCCTCCGGGGTGTCCCTTGGAACAACCCAGTGGGTGGACAGGGCGGGGAATATGAATCCCATTTTACAGATGTGGCAACTGAGGCCCAGAGGACCCAGAGTTGAGTTGCTCAAGATCACACAATGAGGCAGGGACACGACTGAGATGTACCTTCCAGGATCCAGAGGTCCCCAGGCTGGTGCTCTGCCCCAGGCTGCTCAGGGTGACAGTCTCTAACTGCCCCCACCTCCATGAGCCCACTGTGACTCCCCAAGAATGTCGGCCCATGAGGAACTGAGTCTCATCCACAGCTGTGTGTCCTGCCCCCTCGAGCCCTGAGCGCCCACGATGATATGGCTGGTCTCTATCCTTAGTAACCAGAAACAACCACCCCACAGCCCTCAACACCAAGAGAAAAGCTGCTGAAGCCTCAGGCCAGGAGGGCTGGCACTGGCTGACACAGACACCCTGCCTAGATGGCCCAAGTTTACAGCATACACTCCACGCTGTGAAGGTCCTGACGGGGAGGGGCCAAAGCAGTCCCGCTTGCCCTGGAACCAGGAAGAGTCTACTGTGCTGAGCAAGGGGGTCCTCTTTATCTCATGGACTCCATGAGCTAAGTCACTGACCACATTTCCCTTTTCACCTTGGCTGCTGGGAAGCCTGGAGTGATACGTGTGGCCCATTCACAGCAAGCGTACATTATAGTCCGTTTTTGTACAAATCCCAGTACTGATTCCATTCATTTTATAGCCCTGCACTTGTTTTTCTTTCACTCCCACTTTCCATTTGTGCCACTCTGACTCACCAGATGAGTCTTTGTAAGCCTCCTAAAATCCCTCTGGAACAAGGCGAGGCACAGAAAATAGTTTTATAGCTGGGCAATGGATCTGAAGTGGATCTGAAAGTACCTTGTAAAAACTGCATGGGCATAAACTGCTAGTGTACAAAATGTGCAGGTATGTAAGACACCTTTCAATTTCACAGCGATTTCTTTTTAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTTAAGAGACAGGAATTGGCTATGTTGCCCCAGCTGGCAGGCAGTGGCTATTCACAGGTGTGATCATAATGCCCTCCAGCCTGGAGCTCCTGGGCTCATGTGATCCTCTTGCCTTAGCTTTGAATAGCTGGGACTACAGGTGCATGCCACCGTGCATGGCTTAATGTATTTTTCCCTGTACCTGTCCTGAAAGTGGCTCTGTGGGGGAAATACTCACTGCCCCTGCCTGGAGTCCTTGGGGCTCTCCTCATCCTTCGCTTAGCTACGGTACAGCCAGACTGGCCTGTTACCACTTTCTTTCTCAACCTCTGGAATTTCAGCTTACATTTAATGCTACAGCAGTACCTCAACTAATCTTGAATTGTGGGTCACAGTGGCAACAAATGTACACGAAAAATGCTAGGAGATCACCCAACTATTCCTCTCATTGGCAGGTAACTGTCCCGTGGTGGTGGTGCAGGTGCTGCTGCCTGTTGCCACCAGGGGTCAGCACTGGCCCCTCCCTGGGGGACCAGGCCTCGCTCTGGCCACAGGGCAGGGGCTCCTGCACGCACCAGGGATCTGGATCACTCATCTGGAATTGGGATGGGGCTAAACCCTGCCTCGCAGCAAGCTGGCCCCGCCCATGCCA 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Task1_train_28876 | A sequence alteration has been identified in CYB5R3 (cytochrome b5 reductase 3) on Chromosome 22. Is it disease-inducing or harmless? | Pathogenic; Hereditary methemoglobinemia | CAACGGCAGGGCCTTTGCGTCTGCTGTTTCCACCATTTGAACACCCACCCACCCCAGCATGGCCAGCTCTCTCTTCCCGTCCCAGCCCAAATCCATCTCCTTGGGGCCTTCCTGCTGCCCCGTTTTAAGAACAGCCCCACACCCACCTTGCCTCATCACCTCTGTAATTTACCACCATGCAGATGGCATCCTCTGACTTTCCTGAGCCTCGAGGCTCATCTGACCCTGACAGGAGGCAGCAGCCTCGCGGTGCATTGGGGTGACTGGGGTTGCGTGGTTTCAGCTGGTTTGCCTCTGGGGGTTGGGAATTTTTCTTCCTGTGTATACTTCTCTGCACTTTCCAAATTTTCTACCACAAAGATACATCAGAAATAAATGCTGGAGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAATACAAAAACTAGCTGGGTGTGGTGGTGGGCACTTTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAGAGGTGGAGGTTGTAGTGAGCTGAGATCATGCCACTCCAGCCTGGGTGACAAAGGGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAAAAAAATGCTAGGTCTTCCCCAGCCCTTTCCTGACCCCACCCCTTGTGTTGCAGGTCACAGACCCTCGAGGAGCTAGAGAAGGGTTAATATTAGCAAAGTTTTACTTTTTTTTTTTCTGCTCATAAATGACTCTGAAAAAGCCAATACGCAAGAGGCTAACACAACTGTAGTCTAAAGGCAACGTCGAGGTCACTGATATGTCCCTCAGACAAGAGGCACTGCTCAGAATCCCCCTGTGCTGGGGGTGAGGGAAGGAGGGGACGGTTTAGGACAGAGGAATAAATACATGTGGTTGTGGGAGTTCTGCCATCAGGGATGGTGGCCCCAGCCCAGGACCCCAAAACCCTGAGGCGGTGCAGTGGGCTGCCAACCCCCCAGCTCGGGGTTCCCCAAGGCTGCCTCAGTGTTTGGATGGGCTGGAAGGAAATGCTGAGGTTCTGGGAGGGCCCCATGGCCAGCCCCCTCTTCCCACTCTAGCCAGAGGAGAGCCAAGCTCCCGGCTGGCCAGGGCCCTGGGGTAGGGAGCAGTGCCCCCAAGAGGGCTTTCTGGTGTCAATGTCTCATGCAGCGTCAGGTGGTGAGGCCTGGGCCTGGCCCTGAGGCGGGAGTGGGGGTGACAGGCGAGGCTGGGGTGGGCCCTGGCACCTGCAGCTTTGGGCTGCCCATGTGTGTCTGCTGACATCCCGACTATGGTCCACGGCCGGGAATGGTGGGCAGACGGGGCTGCTGGCAGCCCTCAGCCTTATAGTGTGTGTGGGGGGTGGACGAGGGGTCATGAGGACAGGGATGGGGCTGGGCGTCTCTGGTAAGGACCAGTAAGTGCCAGGCAGGACGTACTCTGAAGGCTCAGCCGTGGCCCATCTGGGACACAGCCCTGCTCCCGAAGGGGCTCCAGGGGAACTGCTCAGCCAGGTGATTCACCAGGGCACGGGCAGGCCAGGCTGAACCCGGGGCCCCAGTGTGCGATGTGGGGAGGTGACTGGGTGAGCGTGAACAGGGCGTGGGGTGCGCGGGGCGGGTGGCCGTGTGACCGTGCCCGGCCCTCAGAAGACGAAGCAGCGCTCCGTGGGGTGGCCCACGTGGTCCAGGTTGGGAAGGCAGGCGTACTGGATCATGGGTGGGGGGCCACACATCAGCACCAGCGGCTCCTCCTCTGGGGGTGGAAGGTGGTCCCGGATCATCTCCTCATTCACGAAGCCCTGGCCGTAGTCCCAGGCTGTGGGGTGAGAGACCAGGTAAGCTGACGTGTGGCTGTGTGGTCACCAACCTGCTGACCGACCAACCCTAGGCGGTGAATTCCTTAAATGCTGAAGAATGGAGAGGCTGATCCCAGCAAACTGTCACCAGGACCCCCTGCCCCCAACCCTGACTCAAGCCTATGGCCTCAGGCCCTGCAGCCTGAAACCAGTGTACAAAGCCCATCATGGTTCCCCTGACTGCACTTTACAGTTTGCAAAGCCTTTTGCTTCCATTTGGCCTCCGGGGTGTCCCTTGGAACAACCCAGTGGGTGGACAGGGCGGGGAATATGAATCCCATTTTACAGATGTGGCAACTGAGGCCCAGAGGACCCAGAGTTGAGTTGCTCAAGATCACACAATGAGGCAGGGACACGACTGAGATGTACCTTCCAGGATCCAGAGGTCCCCAGGCTGGTGCTCTGCCCCAGGCTGCTCAGGGTGACAGTCTCTAACTGCCCCCACCTCCATGAGCCCACTGTGACTCCCCAAGAATGTCGGCCCATGAGGAACTGAGTCTCATCCACAGCTGTGTGTCCTGCCCCCTCGAGCCCTGAGCGCCCACGATGATATGGCTGGTCTCTATCCTTAGTAACCAGAAACAACCACCCCACAGCCCTCAACACCAAGAGAAAAGCTGCTGAAGCCTCAGGCCAGGAGGGCTGGCACTGGCTGACACAGACACCCTGCCTAGATGGCCCAAGTTTACAGCATACACTCCACGCTGTGAAGGTCCTGACGGGGAGGGGCCAAAGCAGTCCCGCTTGCCCTGGAACCAGGAAGAGTCTACTGTGCTGAGCAAGGGGGTCCTCTTTATCTCATGGACTCCATGAGCTAAGTCACTGACCACATTTCCCTTTTCACCTTGGCTGCTGGGAAGCCTGGAGTGATACGTGTGGCCCATTCACAGCAAGCGTACATTATAGTCCGTTTTTGTACAAATCCCAGTACTGATTCCATTCATTTTATAGCCCTGCACTTGTTTTTCTTTCACTCCCACTTTCCATTTGTGCCACTCTGACTCACCAGATGAGTCTTTGTAAGCCTCCTAAAATCCCTCTGGAACAAGGCGAGGCACAGAAAATAGTTTTATAGCTGGGCAATGGATCTGAAGTGGATCTGAAAGTACCTTGTAAAAACTGCATGGGCATAAACTGCTAGTGTACAAAATGTGCAGGTATGTAAGACACCTTTCAATTTCACAGCGATTTCTTTTTAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTTAAGAGACAGGAATTGGCTATGTTGCCCCAGCTGGCAGGCAGTGGCTATTCACAGGTGTGATCATAATGCCCTCCAGCCTGGAGCTCCTGGGCTCATGTGATCCTCTTGCCTTAGCTTTGAATAGCTGGGACTACAGGTGCATGCCACCGTGCATGGCTTAATGTATTTTTCCCTGTACCTGTCCTGAAAGTGGCTCTGTGGGGGAAATACTCACTGCCCCTGCCTGGAGTCCTTGGGGCTCTCCTCATCCTTCGCTTAGCTACGGTACAGCCAGACTGGCCTGTTACCACTTTCTTTCTCAACCTCTGGAATTTCAGCTTACATTTAATGCTACAGCAGTACCTCAACTAATCTTGAATTGTGGGTCACAGTGGCAACAAATGTACACGAAAAATGCTAGGAGATCACCCAACTATTCCTCTCATTGGCAGGTAACTGTCCCGTGGTGGTGGTGCAGGTGCTGCTGCCTGTTGCCACCAGGGGTCAGCACTGGCCCCTCCCTGGGGGACCAGGCCTCGCTCTGGCCACAGGGCAGGGGCTCCTGCACGCACCAGGGATCTGGATCACTCATCTGGAATTGGGATGGGGCTAAACCCTGCCTCGCAGCAAGCTGGCCCCGCCCATGCCATTAGAAACTGCAGTCAGAAAGGAGCAAAGCAGCCTATCACTTCCTCCCTTTAGACTGACACATGGGTACAGGATAAAACGCTCTTTTCTTTGAGACGGAGTCTCGCTCTATCGCCAGG 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CAACGGCAGGGCCTTTGCGTCTGCTGTTTCCACCATTTGAACACCCACCCACCCCAGCATGGCCAGCTCTCTCTTCCCGTCCCAGCCCAAATCCATCTCCTTGGGGCCTTCCTGCTGCCCCGTTTTAAGAACAGCCCCACACCCACCTTGCCTCATCACCTCTGTAATTTACCACCATGCAGATGGCATCCTCTGACTTTCCTGAGCCTCGAGGCTCATCTGACCCTGACAGGAGGCAGCAGCCTCGCGGTGCATTGGGGTGACTGGGGTTGCGTGGTTTCAGCTGGTTTGCCTCTGGGGGTTGGGAATTTTTCTTCCTGTGTATACTTCTCTGCACTTTCCAAATTTTCTACCACAAAGATACATCAGAAATAAATGCTGGAGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAATACAAAAACTAGCTGGGTGTGGTGGTGGGCACTTTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAGAGGTGGAGGTTGTAGTGAGCTGAGATCATGCCACTCCAGCCTGGGTGACAAAGGGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAAAAAAATGCTAGGTCTTCCCCAGCCCTTTCCTGACCCCACCCCTTGTGTTGCAGGTCACAGACCCTCGAGGAGCTAGAGAAGGGTTAATATTAGCAAAGTTTTACTTTTTTTTTTTCTGCTCATAAATGACTCTGAAAAAGCCAATACGCAAGAGGCTAACACAACTGTAGTCTAAAGGCAACGTCGAGGTCACTGATATGTCCCTCAGACAAGAGGCACTGCTCAGAATCCCCCTGTGCTGGGGGTGAGGGAAGGAGGGGACGGTTTAGGACAGAGGAATAAATACATGTGGTTGTGGGAGTTCTGCCATCAGGGATGGTGGCCCCAGCCCAGGACCCCAAAACCCTGAGGCGGTGCAGTGGGCTGCCAACCCCCCAGCTCGGGGTTCCCCAAGGCTGCCTCAGTGTTTGGATGGGCTGGAAGGAAATGCTGAGGTTCTGGGAGGGCCCCATGGCCAGCCCCCTCTTCCCACTCTAGCCAGAGGAGAGCCAAGCTCCCGGCTGGCCAGGGCCCTGGGGTAGGGAGCAGTGCCCCCAAGAGGGCTTTCTGGTGTCAATGTCTCATGCAGCGTCAGGTGGTGAGGCCTGGGCCTGGCCCTGAGGCGGGAGTGGGGGTGACAGGCGAGGCTGGGGTGGGCCCTGGCACCTGCAGCTTTGGGCTGCCCATGTGTGTCTGCTGACATCCCGACTATGGTCCACGGCCGGGAATGGTGGGCAGACGGGGCTGCTGGCAGCCCTCAGCCTTATAGTGTGTGTGGGGGGTGGACGAGGGGTCATGAGGACAGGGATGGGGCTGGGCGTCTCTGGTAAGGACCAGTAAGTGCCAGGCAGGACGTACTCTGAAGGCTCAGCCGTGGCCCATCTGGGACACAGCCCTGCTCCCGAAGGGGCTCCAGGGGAACTGCTCAGCCAGGTGATTCACCAGGGCACGGGCAGGCCAGGCTGAACCCGGGGCCCCAGTGTGCGATGTGGGGAGGTGACTGGGTGAGCGTGAACAGGGCGTGGGGTGCGCGGGGCGGGTGGCCGTGTGACCGTGCCCGGCCCTCAGAAGACGAAGCAGCGCTCCGTGGGGTGGCCCACGTGGTCCAGGTTGGGAAGGCAGGCGTACTGGATCATGGGTGGGGGGCCACACATCAGCACCAGCGGCTCCTCCTCTGGGGGTGGAAGGTGGTCCCGGATCATCTCCTCATTCATGAAGCCCTGGCCGTAGTCCCAGGCTGTGGGGTGAGAGACCAGGTAAGCTGACGTGTGGCTGTGTGGTCACCAACCTGCTGACCGACCAACCCTAGGCGGTGAATTCCTTAAATGCTGAAGAATGGAGAGGCTGATCCCAGCAAACTGTCACCAGGACCCCCTGCCCCCAACCCTGACTCAAGCCTATGGCCTCAGGCCCTGCAGCCTGAAACCAGTGTACAAAGCCCATCATGGTTCCCCTGACTGCACTTTACAGTTTGCAAAGCCTTTTGCTTCCATTTGGCCTCCGGGGTGTCCCTTGGAACAACCCAGTGGGTGGACAGGGCGGGGAATATGAATCCCATTTTACAGATGTGGCAACTGAGGCCCAGAGGACCCAGAGTTGAGTTGCTCAAGATCACACAATGAGGCAGGGACACGACTGAGATGTACCTTCCAGGATCCAGAGGTCCCCAGGCTGGTGCTCTGCCCCAGGCTGCTCAGGGTGACAGTCTCTAACTGCCCCCACCTCCATGAGCCCACTGTGACTCCCCAAGAATGTCGGCCCATGAGGAACTGAGTCTCATCCACAGCTGTGTGTCCTGCCCCCTCGAGCCCTGAGCGCCCACGATGATATGGCTGGTCTCTATCCTTAGTAACCAGAAACAACCACCCCACAGCCCTCAACACCAAGAGAAAAGCTGCTGAAGCCTCAGGCCAGGAGGGCTGGCACTGGCTGACACAGACACCCTGCCTAGATGGCCCAAGTTTACAGCATACACTCCACGCTGTGAAGGTCCTGACGGGGAGGGGCCAAAGCAGTCCCGCTTGCCCTGGAACCAGGAAGAGTCTACTGTGCTGAGCAAGGGGGTCCTCTTTATCTCATGGACTCCATGAGCTAAGTCACTGACCACATTTCCCTTTTCACCTTGGCTGCTGGGAAGCCTGGAGTGATACGTGTGGCCCATTCACAGCAAGCGTACATTATAGTCCGTTTTTGTACAAATCCCAGTACTGATTCCATTCATTTTATAGCCCTGCACTTGTTTTTCTTTCACTCCCACTTTCCATTTGTGCCACTCTGACTCACCAGATGAGTCTTTGTAAGCCTCCTAAAATCCCTCTGGAACAAGGCGAGGCACAGAAAATAGTTTTATAGCTGGGCAATGGATCTGAAGTGGATCTGAAAGTACCTTGTAAAAACTGCATGGGCATAAACTGCTAGTGTACAAAATGTGCAGGTATGTAAGACACCTTTCAATTTCACAGCGATTTCTTTTTAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTTAAGAGACAGGAATTGGCTATGTTGCCCCAGCTGGCAGGCAGTGGCTATTCACAGGTGTGATCATAATGCCCTCCAGCCTGGAGCTCCTGGGCTCATGTGATCCTCTTGCCTTAGCTTTGAATAGCTGGGACTACAGGTGCATGCCACCGTGCATGGCTTAATGTATTTTTCCCTGTACCTGTCCTGAAAGTGGCTCTGTGGGGGAAATACTCACTGCCCCTGCCTGGAGTCCTTGGGGCTCTCCTCATCCTTCGCTTAGCTACGGTACAGCCAGACTGGCCTGTTACCACTTTCTTTCTCAACCTCTGGAATTTCAGCTTACATTTAATGCTACAGCAGTACCTCAACTAATCTTGAATTGTGGGTCACAGTGGCAACAAATGTACACGAAAAATGCTAGGAGATCACCCAACTATTCCTCTCATTGGCAGGTAACTGTCCCGTGGTGGTGGTGCAGGTGCTGCTGCCTGTTGCCACCAGGGGTCAGCACTGGCCCCTCCCTGGGGGACCAGGCCTCGCTCTGGCCACAGGGCAGGGGCTCCTGCACGCACCAGGGATCTGGATCACTCATCTGGAATTGGGATGGGGCTAAACCCTGCCTCGCAGCAAGCTGGCCCCGCCCATGCCATTAGAAACTGCAGTCAGAAAGGAGCAAAGCAGCCTATCACTTCCTCCCTTTAGACTGACACATGGGTACAGGATAAAACGCTCTTTTCTTTGAGACGGAGTCTCGCTCTATCGCCAGG 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Task1_train_28877 | Here is a mutation in CYB5R3 (cytochrome b5 reductase 3) on Chromosome 22. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Deficiency of cytochrome-b5 reductase | CAACGGCAGGGCCTTTGCGTCTGCTGTTTCCACCATTTGAACACCCACCCACCCCAGCATGGCCAGCTCTCTCTTCCCGTCCCAGCCCAAATCCATCTCCTTGGGGCCTTCCTGCTGCCCCGTTTTAAGAACAGCCCCACACCCACCTTGCCTCATCACCTCTGTAATTTACCACCATGCAGATGGCATCCTCTGACTTTCCTGAGCCTCGAGGCTCATCTGACCCTGACAGGAGGCAGCAGCCTCGCGGTGCATTGGGGTGACTGGGGTTGCGTGGTTTCAGCTGGTTTGCCTCTGGGGGTTGGGAATTTTTCTTCCTGTGTATACTTCTCTGCACTTTCCAAATTTTCTACCACAAAGATACATCAGAAATAAATGCTGGAGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAATACAAAAACTAGCTGGGTGTGGTGGTGGGCACTTTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAGAGGTGGAGGTTGTAGTGAGCTGAGATCATGCCACTCCAGCCTGGGTGACAAAGGGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAAAAAAATGCTAGGTCTTCCCCAGCCCTTTCCTGACCCCACCCCTTGTGTTGCAGGTCACAGACCCTCGAGGAGCTAGAGAAGGGTTAATATTAGCAAAGTTTTACTTTTTTTTTTTCTGCTCATAAATGACTCTGAAAAAGCCAATACGCAAGAGGCTAACACAACTGTAGTCTAAAGGCAACGTCGAGGTCACTGATATGTCCCTCAGACAAGAGGCACTGCTCAGAATCCCCCTGTGCTGGGGGTGAGGGAAGGAGGGGACGGTTTAGGACAGAGGAATAAATACATGTGGTTGTGGGAGTTCTGCCATCAGGGATGGTGGCCCCAGCCCAGGACCCCAAAACCCTGAGGCGGTGCAGTGGGCTGCCAACCCCCCAGCTCGGGGTTCCCCAAGGCTGCCTCAGTGTTTGGATGGGCTGGAAGGAAATGCTGAGGTTCTGGGAGGGCCCCATGGCCAGCCCCCTCTTCCCACTCTAGCCAGAGGAGAGCCAAGCTCCCGGCTGGCCAGGGCCCTGGGGTAGGGAGCAGTGCCCCCAAGAGGGCTTTCTGGTGTCAATGTCTCATGCAGCGTCAGGTGGTGAGGCCTGGGCCTGGCCCTGAGGCGGGAGTGGGGGTGACAGGCGAGGCTGGGGTGGGCCCTGGCACCTGCAGCTTTGGGCTGCCCATGTGTGTCTGCTGACATCCCGACTATGGTCCACGGCCGGGAATGGTGGGCAGACGGGGCTGCTGGCAGCCCTCAGCCTTATAGTGTGTGTGGGGGGTGGACGAGGGGTCATGAGGACAGGGATGGGGCTGGGCGTCTCTGGTAAGGACCAGTAAGTGCCAGGCAGGACGTACTCTGAAGGCTCAGCCGTGGCCCATCTGGGACACAGCCCTGCTCCCGAAGGGGCTCCAGGGGAACTGCTCAGCCAGGTGATTCACCAGGGCACGGGCAGGCCAGGCTGAACCCGGGGCCCCAGTGTGCGATGTGGGGAGGTGACTGGGTGAGCGTGAACAGGGCGTGGGGTGCGCGGGGCGGGTGGCCGTGTGACCGTGCCCGGCCCTCAGAAGACGAAGCAGCGCTCCGTGGGGTGGCCCACGTGGTCCAGGTTGGGAAGGCAGGCGTACTGGATCATGGGTGGGGGGCCACACATCAGCACCAGCGGCTCCTCCTCTGGGGGTGGAAGGTGGTCCCGGATCATCTCCTCATTCACGAAGCCCTGGCCGTAGTCCCAGGCTGTGGGGTGAGAGACCAGGTAAGCTGACGTGTGGCTGTGTGGTCACCAACCTGCTGACCGACCAACCCTAGGCGGTGAATTCCTTAAATGCTGAAGAATGGAGAGGCTGATCCCAGCAAACTGTCACCAGGACCCCCTGCCCCCAACCCTGACTCAAGCCTATGGCCTCAGGCCCTGCAGCCTGAAACCAGTGTACAAAGCCCATCATGGTTCCCCTGACTGCACTTTACAGTTTGCAAAGCCTTTTGCTTCCATTTGGCCTCCGGGGTGTCCCTTGGAACAACCCAGTGGGTGGACAGGGCGGGGAATATGAATCCCATTTTACAGATGTGGCAACTGAGGCCCAGAGGACCCAGAGTTGAGTTGCTCAAGATCACACAATGAGGCAGGGACACGACTGAGATGTACCTTCCAGGATCCAGAGGTCCCCAGGCTGGTGCTCTGCCCCAGGCTGCTCAGGGTGACAGTCTCTAACTGCCCCCACCTCCATGAGCCCACTGTGACTCCCCAAGAATGTCGGCCCATGAGGAACTGAGTCTCATCCACAGCTGTGTGTCCTGCCCCCTCGAGCCCTGAGCGCCCACGATGATATGGCTGGTCTCTATCCTTAGTAACCAGAAACAACCACCCCACAGCCCTCAACACCAAGAGAAAAGCTGCTGAAGCCTCAGGCCAGGAGGGCTGGCACTGGCTGACACAGACACCCTGCCTAGATGGCCCAAGTTTACAGCATACACTCCACGCTGTGAAGGTCCTGACGGGGAGGGGCCAAAGCAGTCCCGCTTGCCCTGGAACCAGGAAGAGTCTACTGTGCTGAGCAAGGGGGTCCTCTTTATCTCATGGACTCCATGAGCTAAGTCACTGACCACATTTCCCTTTTCACCTTGGCTGCTGGGAAGCCTGGAGTGATACGTGTGGCCCATTCACAGCAAGCGTACATTATAGTCCGTTTTTGTACAAATCCCAGTACTGATTCCATTCATTTTATAGCCCTGCACTTGTTTTTCTTTCACTCCCACTTTCCATTTGTGCCACTCTGACTCACCAGATGAGTCTTTGTAAGCCTCCTAAAATCCCTCTGGAACAAGGCGAGGCACAGAAAATAGTTTTATAGCTGGGCAATGGATCTGAAGTGGATCTGAAAGTACCTTGTAAAAACTGCATGGGCATAAACTGCTAGTGTACAAAATGTGCAGGTATGTAAGACACCTTTCAATTTCACAGCGATTTCTTTTTAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTTAAGAGACAGGAATTGGCTATGTTGCCCCAGCTGGCAGGCAGTGGCTATTCACAGGTGTGATCATAATGCCCTCCAGCCTGGAGCTCCTGGGCTCATGTGATCCTCTTGCCTTAGCTTTGAATAGCTGGGACTACAGGTGCATGCCACCGTGCATGGCTTAATGTATTTTTCCCTGTACCTGTCCTGAAAGTGGCTCTGTGGGGGAAATACTCACTGCCCCTGCCTGGAGTCCTTGGGGCTCTCCTCATCCTTCGCTTAGCTACGGTACAGCCAGACTGGCCTGTTACCACTTTCTTTCTCAACCTCTGGAATTTCAGCTTACATTTAATGCTACAGCAGTACCTCAACTAATCTTGAATTGTGGGTCACAGTGGCAACAAATGTACACGAAAAATGCTAGGAGATCACCCAACTATTCCTCTCATTGGCAGGTAACTGTCCCGTGGTGGTGGTGCAGGTGCTGCTGCCTGTTGCCACCAGGGGTCAGCACTGGCCCCTCCCTGGGGGACCAGGCCTCGCTCTGGCCACAGGGCAGGGGCTCCTGCACGCACCAGGGATCTGGATCACTCATCTGGAATTGGGATGGGGCTAAACCCTGCCTCGCAGCAAGCTGGCCCCGCCCATGCCATTAGAAACTGCAGTCAGAAAGGAGCAAAGCAGCCTATCACTTCCTCCCTTTAGACTGACACATGGGTACAGGATAAAACGCTCTTTTCTTTGAGACGGAGTCTCGCTCTATCGCCAGG 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CAACGGCAGGGCCTTTGCGTCTGCTGTTTCCACCATTTGAACACCCACCCACCCCAGCATGGCCAGCTCTCTCTTCCCGTCCCAGCCCAAATCCATCTCCTTGGGGCCTTCCTGCTGCCCCGTTTTAAGAACAGCCCCACACCCACCTTGCCTCATCACCTCTGTAATTTACCACCATGCAGATGGCATCCTCTGACTTTCCTGAGCCTCGAGGCTCATCTGACCCTGACAGGAGGCAGCAGCCTCGCGGTGCATTGGGGTGACTGGGGTTGCGTGGTTTCAGCTGGTTTGCCTCTGGGGGTTGGGAATTTTTCTTCCTGTGTATACTTCTCTGCACTTTCCAAATTTTCTACCACAAAGATACATCAGAAATAAATGCTGGAGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAATACAAAAACTAGCTGGGTGTGGTGGTGGGCACTTTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAGAGGTGGAGGTTGTAGTGAGCTGAGATCATGCCACTCCAGCCTGGGTGACAAAGGGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAAAAAAATGCTAGGTCTTCCCCAGCCCTTTCCTGACCCCACCCCTTGTGTTGCAGGTCACAGACCCTCGAGGAGCTAGAGAAGGGTTAATATTAGCAAAGTTTTACTTTTTTTTTTTCTGCTCATAAATGACTCTGAAAAAGCCAATACGCAAGAGGCTAACACAACTGTAGTCTAAAGGCAACGTCGAGGTCACTGATATGTCCCTCAGACAAGAGGCACTGCTCAGAATCCCCCTGTGCTGGGGGTGAGGGAAGGAGGGGACGGTTTAGGACAGAGGAATAAATACATGTGGTTGTGGGAGTTCTGCCATCAGGGATGGTGGCCCCAGCCCAGGACCCCAAAACCCTGAGGCGGTGCAGTGGGCTGCCAACCCCCCAGCTCGGGGTTCCCCAAGGCTGCCTCAGTGTTTGGATGGGCTGGAAGGAAATGCTGAGGTTCTGGGAGGGCCCCATGGCCAGCCCCCTCTTCCCACTCTAGCCAGAGGAGAGCCAAGCTCCCGGCTGGCCAGGGCCCTGGGGTAGGGAGCAGTGCCCCCAAGAGGGCTTTCTGGTGTCAATGTCTCATGCAGCGTCAGGTGGTGAGGCCTGGGCCTGGCCCTGAGGCGGGAGTGGGGGTGACAGGCGAGGCTGGGGTGGGCCCTGGCACCTGCAGCTTTGGGCTGCCCATGTGTGTCTGCTGACATCCCGACTATGGTCCACGGCCGGGAATGGTGGGCAGACGGGGCTGCTGGCAGCCCTCAGCCTTATAGTGTGTGTGGGGGGTGGACGAGGGGTCATGAGGACAGGGATGGGGCTGGGCGTCTCTGGTAAGGACCAGTAAGTGCCAGGCAGGACGTACTCTGAAGGCTCAGCCGTGGCCCATCTGGGACACAGCCCTGCTCCCGAAGGGGCTCCAGGGGAACTGCTCAGCCAGGTGATTCACCAGGGCACGGGCAGGCCAGGCTGAACCCGGGGCCCCAGTGTGCGATGTGGGGAGGTGACTGGGTGAGCGTGAACAGGGCGTGGGGTGCGCGGGGCGGGTGGCCGTGTGACCGTGCCCGGCCCTCAGAAGACGAAGCAGCGCTCCGTGGGGTGGCCCACGTGGTCCAGGTTGGGAAGGCAGGCGTACTGGATCATGGGTGGGGGGCCACACATCAGCACCAGCGGCTCCTCCTCTGGGGGTGGAAGGTGGTCCCGGATCATCTCCTCATTCATGAAGCCCTGGCCGTAGTCCCAGGCTGTGGGGTGAGAGACCAGGTAAGCTGACGTGTGGCTGTGTGGTCACCAACCTGCTGACCGACCAACCCTAGGCGGTGAATTCCTTAAATGCTGAAGAATGGAGAGGCTGATCCCAGCAAACTGTCACCAGGACCCCCTGCCCCCAACCCTGACTCAAGCCTATGGCCTCAGGCCCTGCAGCCTGAAACCAGTGTACAAAGCCCATCATGGTTCCCCTGACTGCACTTTACAGTTTGCAAAGCCTTTTGCTTCCATTTGGCCTCCGGGGTGTCCCTTGGAACAACCCAGTGGGTGGACAGGGCGGGGAATATGAATCCCATTTTACAGATGTGGCAACTGAGGCCCAGAGGACCCAGAGTTGAGTTGCTCAAGATCACACAATGAGGCAGGGACACGACTGAGATGTACCTTCCAGGATCCAGAGGTCCCCAGGCTGGTGCTCTGCCCCAGGCTGCTCAGGGTGACAGTCTCTAACTGCCCCCACCTCCATGAGCCCACTGTGACTCCCCAAGAATGTCGGCCCATGAGGAACTGAGTCTCATCCACAGCTGTGTGTCCTGCCCCCTCGAGCCCTGAGCGCCCACGATGATATGGCTGGTCTCTATCCTTAGTAACCAGAAACAACCACCCCACAGCCCTCAACACCAAGAGAAAAGCTGCTGAAGCCTCAGGCCAGGAGGGCTGGCACTGGCTGACACAGACACCCTGCCTAGATGGCCCAAGTTTACAGCATACACTCCACGCTGTGAAGGTCCTGACGGGGAGGGGCCAAAGCAGTCCCGCTTGCCCTGGAACCAGGAAGAGTCTACTGTGCTGAGCAAGGGGGTCCTCTTTATCTCATGGACTCCATGAGCTAAGTCACTGACCACATTTCCCTTTTCACCTTGGCTGCTGGGAAGCCTGGAGTGATACGTGTGGCCCATTCACAGCAAGCGTACATTATAGTCCGTTTTTGTACAAATCCCAGTACTGATTCCATTCATTTTATAGCCCTGCACTTGTTTTTCTTTCACTCCCACTTTCCATTTGTGCCACTCTGACTCACCAGATGAGTCTTTGTAAGCCTCCTAAAATCCCTCTGGAACAAGGCGAGGCACAGAAAATAGTTTTATAGCTGGGCAATGGATCTGAAGTGGATCTGAAAGTACCTTGTAAAAACTGCATGGGCATAAACTGCTAGTGTACAAAATGTGCAGGTATGTAAGACACCTTTCAATTTCACAGCGATTTCTTTTTAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTTAAGAGACAGGAATTGGCTATGTTGCCCCAGCTGGCAGGCAGTGGCTATTCACAGGTGTGATCATAATGCCCTCCAGCCTGGAGCTCCTGGGCTCATGTGATCCTCTTGCCTTAGCTTTGAATAGCTGGGACTACAGGTGCATGCCACCGTGCATGGCTTAATGTATTTTTCCCTGTACCTGTCCTGAAAGTGGCTCTGTGGGGGAAATACTCACTGCCCCTGCCTGGAGTCCTTGGGGCTCTCCTCATCCTTCGCTTAGCTACGGTACAGCCAGACTGGCCTGTTACCACTTTCTTTCTCAACCTCTGGAATTTCAGCTTACATTTAATGCTACAGCAGTACCTCAACTAATCTTGAATTGTGGGTCACAGTGGCAACAAATGTACACGAAAAATGCTAGGAGATCACCCAACTATTCCTCTCATTGGCAGGTAACTGTCCCGTGGTGGTGGTGCAGGTGCTGCTGCCTGTTGCCACCAGGGGTCAGCACTGGCCCCTCCCTGGGGGACCAGGCCTCGCTCTGGCCACAGGGCAGGGGCTCCTGCACGCACCAGGGATCTGGATCACTCATCTGGAATTGGGATGGGGCTAAACCCTGCCTCGCAGCAAGCTGGCCCCGCCCATGCCATTAGAAACTGCAGTCAGAAAGGAGCAAAGCAGCCTATCACTTCCTCCCTTTAGACTGACACATGGGTACAGGATAAAACGCTCTTTTCTTTGAGACGGAGTCTCGCTCTATCGCCAGG 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Task1_train_28878 | This sequence change occurs on Chromosome 22, altering CYB5R3 (cytochrome b5 reductase 3). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Central core myopathy | CAACGGCAGGGCCTTTGCGTCTGCTGTTTCCACCATTTGAACACCCACCCACCCCAGCATGGCCAGCTCTCTCTTCCCGTCCCAGCCCAAATCCATCTCCTTGGGGCCTTCCTGCTGCCCCGTTTTAAGAACAGCCCCACACCCACCTTGCCTCATCACCTCTGTAATTTACCACCATGCAGATGGCATCCTCTGACTTTCCTGAGCCTCGAGGCTCATCTGACCCTGACAGGAGGCAGCAGCCTCGCGGTGCATTGGGGTGACTGGGGTTGCGTGGTTTCAGCTGGTTTGCCTCTGGGGGTTGGGAATTTTTCTTCCTGTGTATACTTCTCTGCACTTTCCAAATTTTCTACCACAAAGATACATCAGAAATAAATGCTGGAGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAATACAAAAACTAGCTGGGTGTGGTGGTGGGCACTTTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAGAGGTGGAGGTTGTAGTGAGCTGAGATCATGCCACTCCAGCCTGGGTGACAAAGGGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAAAAAAATGCTAGGTCTTCCCCAGCCCTTTCCTGACCCCACCCCTTGTGTTGCAGGTCACAGACCCTCGAGGAGCTAGAGAAGGGTTAATATTAGCAAAGTTTTACTTTTTTTTTTTCTGCTCATAAATGACTCTGAAAAAGCCAATACGCAAGAGGCTAACACAACTGTAGTCTAAAGGCAACGTCGAGGTCACTGATATGTCCCTCAGACAAGAGGCACTGCTCAGAATCCCCCTGTGCTGGGGGTGAGGGAAGGAGGGGACGGTTTAGGACAGAGGAATAAATACATGTGGTTGTGGGAGTTCTGCCATCAGGGATGGTGGCCCCAGCCCAGGACCCCAAAACCCTGAGGCGGTGCAGTGGGCTGCCAACCCCCCAGCTCGGGGTTCCCCAAGGCTGCCTCAGTGTTTGGATGGGCTGGAAGGAAATGCTGAGGTTCTGGGAGGGCCCCATGGCCAGCCCCCTCTTCCCACTCTAGCCAGAGGAGAGCCAAGCTCCCGGCTGGCCAGGGCCCTGGGGTAGGGAGCAGTGCCCCCAAGAGGGCTTTCTGGTGTCAATGTCTCATGCAGCGTCAGGTGGTGAGGCCTGGGCCTGGCCCTGAGGCGGGAGTGGGGGTGACAGGCGAGGCTGGGGTGGGCCCTGGCACCTGCAGCTTTGGGCTGCCCATGTGTGTCTGCTGACATCCCGACTATGGTCCACGGCCGGGAATGGTGGGCAGACGGGGCTGCTGGCAGCCCTCAGCCTTATAGTGTGTGTGGGGGGTGGACGAGGGGTCATGAGGACAGGGATGGGGCTGGGCGTCTCTGGTAAGGACCAGTAAGTGCCAGGCAGGACGTACTCTGAAGGCTCAGCCGTGGCCCATCTGGGACACAGCCCTGCTCCCGAAGGGGCTCCAGGGGAACTGCTCAGCCAGGTGATTCACCAGGGCACGGGCAGGCCAGGCTGAACCCGGGGCCCCAGTGTGCGATGTGGGGAGGTGACTGGGTGAGCGTGAACAGGGCGTGGGGTGCGCGGGGCGGGTGGCCGTGTGACCGTGCCCGGCCCTCAGAAGACGAAGCAGCGCTCCGTGGGGTGGCCCACGTGGTCCAGGTTGGGAAGGCAGGCGTACTGGATCATGGGTGGGGGGCCACACATCAGCACCAGCGGCTCCTCCTCTGGGGGTGGAAGGTGGTCCCGGATCATCTCCTCATTCACGAAGCCCTGGCCGTAGTCCCAGGCTGTGGGGTGAGAGACCAGGTAAGCTGACGTGTGGCTGTGTGGTCACCAACCTGCTGACCGACCAACCCTAGGCGGTGAATTCCTTAAATGCTGAAGAATGGAGAGGCTGATCCCAGCAAACTGTCACCAGGACCCCCTGCCCCCAACCCTGACTCAAGCCTATGGCCTCAGGCCCTGCAGCCTGAAACCAGTGTACAAAGCCCATCATGGTTCCCCTGACTGCACTTTACAGTTTGCAAAGCCTTTTGCTTCCATTTGGCCTCCGGGGTGTCCCTTGGAACAACCCAGTGGGTGGACAGGGCGGGGAATATGAATCCCATTTTACAGATGTGGCAACTGAGGCCCAGAGGACCCAGAGTTGAGTTGCTCAAGATCACACAATGAGGCAGGGACACGACTGAGATGTACCTTCCAGGATCCAGAGGTCCCCAGGCTGGTGCTCTGCCCCAGGCTGCTCAGGGTGACAGTCTCTAACTGCCCCCACCTCCATGAGCCCACTGTGACTCCCCAAGAATGTCGGCCCATGAGGAACTGAGTCTCATCCACAGCTGTGTGTCCTGCCCCCTCGAGCCCTGAGCGCCCACGATGATATGGCTGGTCTCTATCCTTAGTAACCAGAAACAACCACCCCACAGCCCTCAACACCAAGAGAAAAGCTGCTGAAGCCTCAGGCCAGGAGGGCTGGCACTGGCTGACACAGACACCCTGCCTAGATGGCCCAAGTTTACAGCATACACTCCACGCTGTGAAGGTCCTGACGGGGAGGGGCCAAAGCAGTCCCGCTTGCCCTGGAACCAGGAAGAGTCTACTGTGCTGAGCAAGGGGGTCCTCTTTATCTCATGGACTCCATGAGCTAAGTCACTGACCACATTTCCCTTTTCACCTTGGCTGCTGGGAAGCCTGGAGTGATACGTGTGGCCCATTCACAGCAAGCGTACATTATAGTCCGTTTTTGTACAAATCCCAGTACTGATTCCATTCATTTTATAGCCCTGCACTTGTTTTTCTTTCACTCCCACTTTCCATTTGTGCCACTCTGACTCACCAGATGAGTCTTTGTAAGCCTCCTAAAATCCCTCTGGAACAAGGCGAGGCACAGAAAATAGTTTTATAGCTGGGCAATGGATCTGAAGTGGATCTGAAAGTACCTTGTAAAAACTGCATGGGCATAAACTGCTAGTGTACAAAATGTGCAGGTATGTAAGACACCTTTCAATTTCACAGCGATTTCTTTTTAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTTAAGAGACAGGAATTGGCTATGTTGCCCCAGCTGGCAGGCAGTGGCTATTCACAGGTGTGATCATAATGCCCTCCAGCCTGGAGCTCCTGGGCTCATGTGATCCTCTTGCCTTAGCTTTGAATAGCTGGGACTACAGGTGCATGCCACCGTGCATGGCTTAATGTATTTTTCCCTGTACCTGTCCTGAAAGTGGCTCTGTGGGGGAAATACTCACTGCCCCTGCCTGGAGTCCTTGGGGCTCTCCTCATCCTTCGCTTAGCTACGGTACAGCCAGACTGGCCTGTTACCACTTTCTTTCTCAACCTCTGGAATTTCAGCTTACATTTAATGCTACAGCAGTACCTCAACTAATCTTGAATTGTGGGTCACAGTGGCAACAAATGTACACGAAAAATGCTAGGAGATCACCCAACTATTCCTCTCATTGGCAGGTAACTGTCCCGTGGTGGTGGTGCAGGTGCTGCTGCCTGTTGCCACCAGGGGTCAGCACTGGCCCCTCCCTGGGGGACCAGGCCTCGCTCTGGCCACAGGGCAGGGGCTCCTGCACGCACCAGGGATCTGGATCACTCATCTGGAATTGGGATGGGGCTAAACCCTGCCTCGCAGCAAGCTGGCCCCGCCCATGCCATTAGAAACTGCAGTCAGAAAGGAGCAAAGCAGCCTATCACTTCCTCCCTTTAGACTGACACATGGGTACAGGATAAAACGCTCTTTTCTTTGAGACGGAGTCTCGCTCTATCGCCAGG 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CAACGGCAGGGCCTTTGCGTCTGCTGTTTCCACCATTTGAACACCCACCCACCCCAGCATGGCCAGCTCTCTCTTCCCGTCCCAGCCCAAATCCATCTCCTTGGGGCCTTCCTGCTGCCCCGTTTTAAGAACAGCCCCACACCCACCTTGCCTCATCACCTCTGTAATTTACCACCATGCAGATGGCATCCTCTGACTTTCCTGAGCCTCGAGGCTCATCTGACCCTGACAGGAGGCAGCAGCCTCGCGGTGCATTGGGGTGACTGGGGTTGCGTGGTTTCAGCTGGTTTGCCTCTGGGGGTTGGGAATTTTTCTTCCTGTGTATACTTCTCTGCACTTTCCAAATTTTCTACCACAAAGATACATCAGAAATAAATGCTGGAGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAATACAAAAACTAGCTGGGTGTGGTGGTGGGCACTTTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAGAGGTGGAGGTTGTAGTGAGCTGAGATCATGCCACTCCAGCCTGGGTGACAAAGGGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAAAAAAATGCTAGGTCTTCCCCAGCCCTTTCCTGACCCCACCCCTTGTGTTGCAGGTCACAGACCCTCGAGGAGCTAGAGAAGGGTTAATATTAGCAAAGTTTTACTTTTTTTTTTTCTGCTCATAAATGACTCTGAAAAAGCCAATACGCAAGAGGCTAACACAACTGTAGTCTAAAGGCAACGTCGAGGTCACTGATATGTCCCTCAGACAAGAGGCACTGCTCAGAATCCCCCTGTGCTGGGGGTGAGGGAAGGAGGGGACGGTTTAGGACAGAGGAATAAATACATGTGGTTGTGGGAGTTCTGCCATCAGGGATGGTGGCCCCAGCCCAGGACCCCAAAACCCTGAGGCGGTGCAGTGGGCTGCCAACCCCCCAGCTCGGGGTTCCCCAAGGCTGCCTCAGTGTTTGGATGGGCTGGAAGGAAATGCTGAGGTTCTGGGAGGGCCCCATGGCCAGCCCCCTCTTCCCACTCTAGCCAGAGGAGAGCCAAGCTCCCGGCTGGCCAGGGCCCTGGGGTAGGGAGCAGTGCCCCCAAGAGGGCTTTCTGGTGTCAATGTCTCATGCAGCGTCAGGTGGTGAGGCCTGGGCCTGGCCCTGAGGCGGGAGTGGGGGTGACAGGCGAGGCTGGGGTGGGCCCTGGCACCTGCAGCTTTGGGCTGCCCATGTGTGTCTGCTGACATCCCGACTATGGTCCACGGCCGGGAATGGTGGGCAGACGGGGCTGCTGGCAGCCCTCAGCCTTATAGTGTGTGTGGGGGGTGGACGAGGGGTCATGAGGACAGGGATGGGGCTGGGCGTCTCTGGTAAGGACCAGTAAGTGCCAGGCAGGACGTACTCTGAAGGCTCAGCCGTGGCCCATCTGGGACACAGCCCTGCTCCCGAAGGGGCTCCAGGGGAACTGCTCAGCCAGGTGATTCACCAGGGCACGGGCAGGCCAGGCTGAACCCGGGGCCCCAGTGTGCGATGTGGGGAGGTGACTGGGTGAGCGTGAACAGGGCGTGGGGTGCGCGGGGCGGGTGGCCGTGTGACCGTGCCCGGCCCTCAGAAGACGAAGCAGCGCTCCGTGGGGTGGCCCACGTGGTCCAGGTTGGGAAGGCAGGCGTACTGGATCATGGGTGGGGGGCCACACATCAGCACCAGCGGCTCCTCCTCTGGGGGTGGAAGGTGGTCCCGGATCATCTCCTCATTCATGAAGCCCTGGCCGTAGTCCCAGGCTGTGGGGTGAGAGACCAGGTAAGCTGACGTGTGGCTGTGTGGTCACCAACCTGCTGACCGACCAACCCTAGGCGGTGAATTCCTTAAATGCTGAAGAATGGAGAGGCTGATCCCAGCAAACTGTCACCAGGACCCCCTGCCCCCAACCCTGACTCAAGCCTATGGCCTCAGGCCCTGCAGCCTGAAACCAGTGTACAAAGCCCATCATGGTTCCCCTGACTGCACTTTACAGTTTGCAAAGCCTTTTGCTTCCATTTGGCCTCCGGGGTGTCCCTTGGAACAACCCAGTGGGTGGACAGGGCGGGGAATATGAATCCCATTTTACAGATGTGGCAACTGAGGCCCAGAGGACCCAGAGTTGAGTTGCTCAAGATCACACAATGAGGCAGGGACACGACTGAGATGTACCTTCCAGGATCCAGAGGTCCCCAGGCTGGTGCTCTGCCCCAGGCTGCTCAGGGTGACAGTCTCTAACTGCCCCCACCTCCATGAGCCCACTGTGACTCCCCAAGAATGTCGGCCCATGAGGAACTGAGTCTCATCCACAGCTGTGTGTCCTGCCCCCTCGAGCCCTGAGCGCCCACGATGATATGGCTGGTCTCTATCCTTAGTAACCAGAAACAACCACCCCACAGCCCTCAACACCAAGAGAAAAGCTGCTGAAGCCTCAGGCCAGGAGGGCTGGCACTGGCTGACACAGACACCCTGCCTAGATGGCCCAAGTTTACAGCATACACTCCACGCTGTGAAGGTCCTGACGGGGAGGGGCCAAAGCAGTCCCGCTTGCCCTGGAACCAGGAAGAGTCTACTGTGCTGAGCAAGGGGGTCCTCTTTATCTCATGGACTCCATGAGCTAAGTCACTGACCACATTTCCCTTTTCACCTTGGCTGCTGGGAAGCCTGGAGTGATACGTGTGGCCCATTCACAGCAAGCGTACATTATAGTCCGTTTTTGTACAAATCCCAGTACTGATTCCATTCATTTTATAGCCCTGCACTTGTTTTTCTTTCACTCCCACTTTCCATTTGTGCCACTCTGACTCACCAGATGAGTCTTTGTAAGCCTCCTAAAATCCCTCTGGAACAAGGCGAGGCACAGAAAATAGTTTTATAGCTGGGCAATGGATCTGAAGTGGATCTGAAAGTACCTTGTAAAAACTGCATGGGCATAAACTGCTAGTGTACAAAATGTGCAGGTATGTAAGACACCTTTCAATTTCACAGCGATTTCTTTTTAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTTAAGAGACAGGAATTGGCTATGTTGCCCCAGCTGGCAGGCAGTGGCTATTCACAGGTGTGATCATAATGCCCTCCAGCCTGGAGCTCCTGGGCTCATGTGATCCTCTTGCCTTAGCTTTGAATAGCTGGGACTACAGGTGCATGCCACCGTGCATGGCTTAATGTATTTTTCCCTGTACCTGTCCTGAAAGTGGCTCTGTGGGGGAAATACTCACTGCCCCTGCCTGGAGTCCTTGGGGCTCTCCTCATCCTTCGCTTAGCTACGGTACAGCCAGACTGGCCTGTTACCACTTTCTTTCTCAACCTCTGGAATTTCAGCTTACATTTAATGCTACAGCAGTACCTCAACTAATCTTGAATTGTGGGTCACAGTGGCAACAAATGTACACGAAAAATGCTAGGAGATCACCCAACTATTCCTCTCATTGGCAGGTAACTGTCCCGTGGTGGTGGTGCAGGTGCTGCTGCCTGTTGCCACCAGGGGTCAGCACTGGCCCCTCCCTGGGGGACCAGGCCTCGCTCTGGCCACAGGGCAGGGGCTCCTGCACGCACCAGGGATCTGGATCACTCATCTGGAATTGGGATGGGGCTAAACCCTGCCTCGCAGCAAGCTGGCCCCGCCCATGCCATTAGAAACTGCAGTCAGAAAGGAGCAAAGCAGCCTATCACTTCCTCCCTTTAGACTGACACATGGGTACAGGATAAAACGCTCTTTTCTTTGAGACGGAGTCTCGCTCTATCGCCAGG 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Task1_train_28879 | The gene CYB5R3 (cytochrome b5 reductase 3), on Chromosome 22, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hereditary methemoglobinemia | GGGTGGATCACTTGAGCTCATGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAGAATTAGCTGGATGTGGTGGCGGGCACCTGTAATCGCAGCTACTCAGGTAGCTGAGGCAGGACAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTCACGCCATTGCACTCCAGCCTGGGCAATAAGAGTGAAATTCCGTCTCAATTTTTTTAAAAAAAGTTATGTCTTCCTCTCTGAGCTAAAGTGTGTCTCATGCTTTAATCCTCACCACCATCCTTTGAGGTGGCCACCGCCGCGACCCACCTGACAGATGAACAGAGGGATGGAACCTTGGGGGGCTGCTACTCGAGGGTAGGGGGCTCCCAGCTCAAAACCAGGCACTGAGGTCACGGAGGAAGGTAGGAGAGGAAACGAGCAGCAATGACCCGACTGGCACGGTTCTCGGAGTGTAGCATGGGGACCCCTGGGGTTGGGACCCTGGAGAGGATCCCTGAGGCCAAATGGTTTTCATATAATACTGAGACACTGGTATTTTTCACTCTTCCTCTCTCAGTAGATGGGGCCACTTTCCAGAGGCTGCGTGACTGGCAACATCACACAGATGGGATGTAGAAACAAACACAGGAATCTAGCTGTCCTATGAAGCCAGACATTCCAAGGTTTGCAAAAACGTAAAACAGAATGATGTTTTCTAAAATAGTTTTTTAAAAATAAAAATAGGCTGGGTACTGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGGCACACATCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAGGATTGTGCCATTGCACTCCAGCCTGAGGGACAAGAGCGAGACTTTGTATCAAAATAAATAAATAAATAAAACCCTGGTTTGCATCCTGGTTTCAGCACTTCCCACGAGACATGCACAGTCAAGCCCCTCCCGGAGCCTGTGTTCGGAGGTATGAGATGAGGCGACCACACTGCCCTCGCTACCAGCTGCAAAGATGGCCTGTACAGGTGACAGACGGTCTGACGGCCTCCACAGACTCTGAACCAGCACCACCAAGTCTCACTGCTGCCCTCTCTCCCTCCACACCAGCCAGCTTAGAATTTCTGGCTCTTTCTCCCCTGGGCCTGGCAAGGCCATCTTGGTTGGCCTTGCGGCAGTTTTCTGCAGCTGCGGGGAGGCAGGGTGGGGCAAGGACCCACATCCAAGGACCTCAGGCAAGCATCTTCTCCCCCAAATCTACGTCATCAGTCACAAAACACTAACCTGAAAAGACCTTGCAACAACCCAGTTTCATCAGCTCATTCTACAGATGAGGGAGTGAAGCTCAGAGAGGGAAAGTAGCTCGTCCAAGACCACACAGCAGGCCAGGGCGGGCAGGCAGGCAGTGGGCTCGTGGACAAGGATATGAATCAGGAGCCAGAGACACCAACATTCAAATCCTGCCCTGACACCCTGTAGCTCAGGGGCTTCGTGCAAATGTCTGGTCATTTGTAAGATGGGCCCCTCCATGTCCAGGCCAGCATTCTTCCCACTCTACCAGTGGGTTCCACACCGTGCTCATGGTGAAGGGAGTTCTGAGTTTTGGAGGAAGCAGCCAGGGGAGGGGGTGCTCAGGGAGCTCCCCGCAAGGCAGCCCCCTCAGCCAGACACAGGCGCTGCACCACAAAGCCTGCCCGCCGTGCTGCTGCCAAGGCCGCCAGTGCACAGAACATTCAGGGCCCCCCATCCCGGTCATCCCCAGAATCTCAGCAGAGCTGTGCAGACCCCTGGAACAGCACCTGACCAGGCCCGAAGTCCCCTCTCAGGGTAAGCTGAGTTTCCCCATCATGGGGATGCCCACTGACCTGGTTGGCAAAGAGCAGGTGGCACACAGTGTGGTCATCAGGGTCCTTCATGATGGCGCGGATCACCTGCAGCATCGGGGTGATGCCTGCAAAATAGCCGGCCGGGCCTCGCACGTGCTGAGCGAGGCCTGTTCACAGGCACCGCCCCGCCCAGGTGTACTGGGGTGGAGGGGCCAGGACCACTGGGCCTGGGCCCCTGACCTCTGGTAGCTCCCAGGCACTCAGAACCTGCGCCTCACCCACACCCCAACCCCACCCTTAACATGAGCCGCCGGACGCCTCAGTGGGGGGTTCCGTGTACCTGTCCCTCCCGCGATCATGCCCACAGACTTCACTGTCCTGATGATAGGGTTGGACTTTTTGTCAGGTCGGATGGCGAACTTCCCTGGGGAGAGAGAAGGGGTGAGGCCCGGCCATCAAACATGCCATGTGTGGTGGCTGGAGAGGCTGGAGAGGGGGCTGGAGAACCTGCCCCCACTGTGAGGTCCGAGGTAGAGGCAGCTGCCATTCTAACGCGAGCCATGAGGAAGGTGCAGGAGCAGTGGAGAGGCTGGGAACCCGGAGGCTCAGCTCTGTCCTCTTGCTTGCTTGTTTCAGATGCTGAGAAAGCCAAATAGAGGCTGGCAGTGGGTGAGACGTGGCCCCCAGGAGTGGCCTGTCTGCAACCCCTGTGCCAGCAACTTACCCCCTCTACAGCCAGGGAGACTCAGTTCCCAGAGAGGGACAGCTGGCCTGACGAGAGTCACCCATCCACACAGAGCCAGGGGCCTGCACCCTGCACCCAGCACGCCCAAGCTCTCCAATTCTCTGAGCCTGCCGTGTAACCAAGGGATTCCGACCCGAATCACCTTTGCCCTGGTAGACCAGCAGCCCACTGGGGCCCCGGAACTCAATGGTGTCTCCAATCTGCATGCTCTCCAGGTACTGAGACATCTTCCCTCCAGCGGGAAACTTGGGATGGGTGTCCTTGAAGTAAACCTGCAAGACACCCCCGCAGCCCTCAGTCCCCAGCTCCAGGTCTCAGGGGCGAGCTCTTGCCCACAGTGGGAGACAAGTGCCTCTTCTGCAGCTTCTTCTGAGGCCCACACATGGCCTTCTCCCGTGGAGCCCCATCCACCCAGCCGTCAAATCCTACCTGTCCTGCACCCCGTCCTTCACCCCGTCCTCCCAGGAGTCAGCCTCCACCTGACATATCCGGGGAAAGCAAACCACCAGCCTCGTGTACAAGGCCGACCAACTCCAGGGCTGGATGCACTCACATTTCACCAACTGTCTCTGGGGCCCCCTCCCAACGGGAGACACTGAACCCGTCAGCAAAGTCAAGGCTCTGGGAGGCCCACTAAGCCACACTCCTCCTGGTGGACACTCAGTCCCTTCCGTTTTGTGCTGTCGCTAAAAACCTCCCTCACTCTTGGGACTACTTCCTGCCCTGCACTCTCTAGGATTACTGTCTTGGGAAAGAGAAGGGCCTCAATCCGACACCTACAAAGAAATGGGGAGACAGAGGAGGAGCGGCTCACCCTGCCCAAGGAGTCTGATGGATGGAGAAGGGGAAGGTGGCTGGGGGAGGGACAGCGTGTACACAGTGCCTCAGGGAGGGGAGCCTGTTGTGGCTTCAGCACAGAGGGTGGCTATGGGGTGTGGAGGCAGAGGGGAGTGGAGGGCCACGGACAGGCAGGCAGAGCACACTGTCCTGGGCCCTGGGTGCCAGGCCAGGACTCTAACCTTTATCAAGGACCAAGGGAGCCAGCCAGGTCTCCAAGCCAGGAGAGGCCTGGTCACCTGTGAGTTTTTCATCCTCAATTTGAATCCTCCTAATAGCTTCTCCACATTTGGCCAGAGAGACTTCAACGTGAACAGATGCTTGAGCCCTCATCACCTCCTCTGTGCTTCTGGACAAAGCCCCAAACCTTACTGGGGCCTCCAAGGCCCCGTCTGGCCCCACTGACCTCTCCCACCCCTTGCCCCAACCCTCCAGCCACTTCAATCCTTGAGCCTGCTGCTGACTTCAGGGCCTTTGCACCTGAAGCTCCTTTTCTTCCTTCTTCACCTGGTCAGTGCCTACTCAGC 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GGGTGGATCACTTGAGCTCATGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAGAATTAGCTGGATGTGGTGGCGGGCACCTGTAATCGCAGCTACTCAGGTAGCTGAGGCAGGACAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTCACGCCATTGCACTCCAGCCTGGGCAATAAGAGTGAAATTCCGTCTCAATTTTTTTAAAAAAAGTTATGTCTTCCTCTCTGAGCTAAAGTGTGTCTCATGCTTTAATCCTCACCACCATCCTTTGAGGTGGCCACCGCCGCGACCCACCTGACAGATGAACAGAGGGATGGAACCTTGGGGGGCTGCTACTCGAGGGTAGGGGGCTCCCAGCTCAAAACCAGGCACTGAGGTCACGGAGGAAGGTAGGAGAGGAAACGAGCAGCAATGACCCGACTGGCACGGTTCTCGGAGTGTAGCATGGGGACCCCTGGGGTTGGGACCCTGGAGAGGATCCCTGAGGCCAAATGGTTTTCATATAATACTGAGACACTGGTATTTTTCACTCTTCCTCTCTCAGTAGATGGGGCCACTTTCCAGAGGCTGCGTGACTGGCAACATCACACAGATGGGATGTAGAAACAAACACAGGAATCTAGCTGTCCTATGAAGCCAGACATTCCAAGGTTTGCAAAAACGTAAAACAGAATGATGTTTTCTAAAATAGTTTTTTAAAAATAAAAATAGGCTGGGTACTGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGGCACACATCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAGGATTGTGCCATTGCACTCCAGCCTGAGGGACAAGAGCGAGACTTTGTATCAAAATAAATAAATAAATAAAACCCTGGTTTGCATCCTGGTTTCAGCACTTCCCACGAGACATGCACAGTCAAGCCCCTCCCGGAGCCTGTGTTCGGAGGTATGAGATGAGGCGACCACACTGCCCTCGCTACCAGCTGCAAAGATGGCCTGTACAGGTGACAGACGGTCTGACGGCCTCCACAGACTCTGAACCAGCACCACCAAGTCTCACTGCTGCCCTCTCTCCCTCCACACCAGCCAGCTTAGAATTTCTGGCTCTTTCTCCCCTGGGCCTGGCAAGGCCATCTTGGTTGGCCTTGCGGCAGTTTTCTGCAGCTGCGGGGAGGCAGGGTGGGGCAAGGACCCACATCCAAGGACCTCAGGCAAGCATCTTCTCCCCCAAATCTACGTCATCAGTCACAAAACACTAACCTGAAAAGACCTTGCAACAACCCAGTTTCATCAGCTCATTCTACAGATGAGGGAGTGAAGCTCAGAGAGGGAAAGTAGCTCGTCCAAGACCACACAGCAGGCCAGGGCGGGCAGGCAGGCAGTGGGCTCGTGGACAAGGATATGAATCAGGAGCCAGAGACACCAACATTCAAATCCTGCCCTGACACCCTGTAGCTCAGGGGCTTCGTGCAAATGTCTGGTCATTTGTAAGATGGGCCCCTCCATGTCCAGGCCAGCATTCTTCCCACTCTACCAGTGGGTTCCACACCGTGCTCATGGTGAAGGGAGTTCTGAGTTTTGGAGGAAGCAGCCAGGGGAGGGGGTGCTCAGGGAGCTCCCCGCAAGGCAGCCCCCTCAGCCAGACACAGGCGCTGCACCACAAAGCCTGCCCGCCGTGCTGCTGCCAAGGCCGCCAGTGCACAGAACATTCAGGGCCCCCCATCCCGGTCATCCCCAGAATCTCAGCAGAGCTGTGCAGACCCCTGGAACAGCACCTGACCAGGCCCGAAGTCCCCTCTCAGGGTAAGCTGAGTTTCCCCATCATGGGGATGCCCACTGACCTGGTTGGCAAAGAGCAGGTGGTACACAGTGTGGTCATCAGGGTCCTTCATGATGGCGCGGATCACCTGCAGCATCGGGGTGATGCCTGCAAAATAGCCGGCCGGGCCTCGCACGTGCTGAGCGAGGCCTGTTCACAGGCACCGCCCCGCCCAGGTGTACTGGGGTGGAGGGGCCAGGACCACTGGGCCTGGGCCCCTGACCTCTGGTAGCTCCCAGGCACTCAGAACCTGCGCCTCACCCACACCCCAACCCCACCCTTAACATGAGCCGCCGGACGCCTCAGTGGGGGGTTCCGTGTACCTGTCCCTCCCGCGATCATGCCCACAGACTTCACTGTCCTGATGATAGGGTTGGACTTTTTGTCAGGTCGGATGGCGAACTTCCCTGGGGAGAGAGAAGGGGTGAGGCCCGGCCATCAAACATGCCATGTGTGGTGGCTGGAGAGGCTGGAGAGGGGGCTGGAGAACCTGCCCCCACTGTGAGGTCCGAGGTAGAGGCAGCTGCCATTCTAACGCGAGCCATGAGGAAGGTGCAGGAGCAGTGGAGAGGCTGGGAACCCGGAGGCTCAGCTCTGTCCTCTTGCTTGCTTGTTTCAGATGCTGAGAAAGCCAAATAGAGGCTGGCAGTGGGTGAGACGTGGCCCCCAGGAGTGGCCTGTCTGCAACCCCTGTGCCAGCAACTTACCCCCTCTACAGCCAGGGAGACTCAGTTCCCAGAGAGGGACAGCTGGCCTGACGAGAGTCACCCATCCACACAGAGCCAGGGGCCTGCACCCTGCACCCAGCACGCCCAAGCTCTCCAATTCTCTGAGCCTGCCGTGTAACCAAGGGATTCCGACCCGAATCACCTTTGCCCTGGTAGACCAGCAGCCCACTGGGGCCCCGGAACTCAATGGTGTCTCCAATCTGCATGCTCTCCAGGTACTGAGACATCTTCCCTCCAGCGGGAAACTTGGGATGGGTGTCCTTGAAGTAAACCTGCAAGACACCCCCGCAGCCCTCAGTCCCCAGCTCCAGGTCTCAGGGGCGAGCTCTTGCCCACAGTGGGAGACAAGTGCCTCTTCTGCAGCTTCTTCTGAGGCCCACACATGGCCTTCTCCCGTGGAGCCCCATCCACCCAGCCGTCAAATCCTACCTGTCCTGCACCCCGTCCTTCACCCCGTCCTCCCAGGAGTCAGCCTCCACCTGACATATCCGGGGAAAGCAAACCACCAGCCTCGTGTACAAGGCCGACCAACTCCAGGGCTGGATGCACTCACATTTCACCAACTGTCTCTGGGGCCCCCTCCCAACGGGAGACACTGAACCCGTCAGCAAAGTCAAGGCTCTGGGAGGCCCACTAAGCCACACTCCTCCTGGTGGACACTCAGTCCCTTCCGTTTTGTGCTGTCGCTAAAAACCTCCCTCACTCTTGGGACTACTTCCTGCCCTGCACTCTCTAGGATTACTGTCTTGGGAAAGAGAAGGGCCTCAATCCGACACCTACAAAGAAATGGGGAGACAGAGGAGGAGCGGCTCACCCTGCCCAAGGAGTCTGATGGATGGAGAAGGGGAAGGTGGCTGGGGGAGGGACAGCGTGTACACAGTGCCTCAGGGAGGGGAGCCTGTTGTGGCTTCAGCACAGAGGGTGGCTATGGGGTGTGGAGGCAGAGGGGAGTGGAGGGCCACGGACAGGCAGGCAGAGCACACTGTCCTGGGCCCTGGGTGCCAGGCCAGGACTCTAACCTTTATCAAGGACCAAGGGAGCCAGCCAGGTCTCCAAGCCAGGAGAGGCCTGGTCACCTGTGAGTTTTTCATCCTCAATTTGAATCCTCCTAATAGCTTCTCCACATTTGGCCAGAGAGACTTCAACGTGAACAGATGCTTGAGCCCTCATCACCTCCTCTGTGCTTCTGGACAAAGCCCCAAACCTTACTGGGGCCTCCAAGGCCCCGTCTGGCCCCACTGACCTCTCCCACCCCTTGCCCCAACCCTCCAGCCACTTCAATCCTTGAGCCTGCTGCTGACTTCAGGGCCTTTGCACCTGAAGCTCCTTTTCTTCCTTCTTCACCTGGTCAGTGCCTACTCAGC 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Task1_train_28880 | Here is a genetic alteration in CYB5R3 (cytochrome b5 reductase 3) on Chromosome 22. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; METHEMOGLOBINEMIA, TYPE I | GGGTGGATCACTTGAGCTCATGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAGAATTAGCTGGATGTGGTGGCGGGCACCTGTAATCGCAGCTACTCAGGTAGCTGAGGCAGGACAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTCACGCCATTGCACTCCAGCCTGGGCAATAAGAGTGAAATTCCGTCTCAATTTTTTTAAAAAAAGTTATGTCTTCCTCTCTGAGCTAAAGTGTGTCTCATGCTTTAATCCTCACCACCATCCTTTGAGGTGGCCACCGCCGCGACCCACCTGACAGATGAACAGAGGGATGGAACCTTGGGGGGCTGCTACTCGAGGGTAGGGGGCTCCCAGCTCAAAACCAGGCACTGAGGTCACGGAGGAAGGTAGGAGAGGAAACGAGCAGCAATGACCCGACTGGCACGGTTCTCGGAGTGTAGCATGGGGACCCCTGGGGTTGGGACCCTGGAGAGGATCCCTGAGGCCAAATGGTTTTCATATAATACTGAGACACTGGTATTTTTCACTCTTCCTCTCTCAGTAGATGGGGCCACTTTCCAGAGGCTGCGTGACTGGCAACATCACACAGATGGGATGTAGAAACAAACACAGGAATCTAGCTGTCCTATGAAGCCAGACATTCCAAGGTTTGCAAAAACGTAAAACAGAATGATGTTTTCTAAAATAGTTTTTTAAAAATAAAAATAGGCTGGGTACTGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGGCACACATCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAGGATTGTGCCATTGCACTCCAGCCTGAGGGACAAGAGCGAGACTTTGTATCAAAATAAATAAATAAATAAAACCCTGGTTTGCATCCTGGTTTCAGCACTTCCCACGAGACATGCACAGTCAAGCCCCTCCCGGAGCCTGTGTTCGGAGGTATGAGATGAGGCGACCACACTGCCCTCGCTACCAGCTGCAAAGATGGCCTGTACAGGTGACAGACGGTCTGACGGCCTCCACAGACTCTGAACCAGCACCACCAAGTCTCACTGCTGCCCTCTCTCCCTCCACACCAGCCAGCTTAGAATTTCTGGCTCTTTCTCCCCTGGGCCTGGCAAGGCCATCTTGGTTGGCCTTGCGGCAGTTTTCTGCAGCTGCGGGGAGGCAGGGTGGGGCAAGGACCCACATCCAAGGACCTCAGGCAAGCATCTTCTCCCCCAAATCTACGTCATCAGTCACAAAACACTAACCTGAAAAGACCTTGCAACAACCCAGTTTCATCAGCTCATTCTACAGATGAGGGAGTGAAGCTCAGAGAGGGAAAGTAGCTCGTCCAAGACCACACAGCAGGCCAGGGCGGGCAGGCAGGCAGTGGGCTCGTGGACAAGGATATGAATCAGGAGCCAGAGACACCAACATTCAAATCCTGCCCTGACACCCTGTAGCTCAGGGGCTTCGTGCAAATGTCTGGTCATTTGTAAGATGGGCCCCTCCATGTCCAGGCCAGCATTCTTCCCACTCTACCAGTGGGTTCCACACCGTGCTCATGGTGAAGGGAGTTCTGAGTTTTGGAGGAAGCAGCCAGGGGAGGGGGTGCTCAGGGAGCTCCCCGCAAGGCAGCCCCCTCAGCCAGACACAGGCGCTGCACCACAAAGCCTGCCCGCCGTGCTGCTGCCAAGGCCGCCAGTGCACAGAACATTCAGGGCCCCCCATCCCGGTCATCCCCAGAATCTCAGCAGAGCTGTGCAGACCCCTGGAACAGCACCTGACCAGGCCCGAAGTCCCCTCTCAGGGTAAGCTGAGTTTCCCCATCATGGGGATGCCCACTGACCTGGTTGGCAAAGAGCAGGTGGCACACAGTGTGGTCATCAGGGTCCTTCATGATGGCGCGGATCACCTGCAGCATCGGGGTGATGCCTGCAAAATAGCCGGCCGGGCCTCGCACGTGCTGAGCGAGGCCTGTTCACAGGCACCGCCCCGCCCAGGTGTACTGGGGTGGAGGGGCCAGGACCACTGGGCCTGGGCCCCTGACCTCTGGTAGCTCCCAGGCACTCAGAACCTGCGCCTCACCCACACCCCAACCCCACCCTTAACATGAGCCGCCGGACGCCTCAGTGGGGGGTTCCGTGTACCTGTCCCTCCCGCGATCATGCCCACAGACTTCACTGTCCTGATGATAGGGTTGGACTTTTTGTCAGGTCGGATGGCGAACTTCCCTGGGGAGAGAGAAGGGGTGAGGCCCGGCCATCAAACATGCCATGTGTGGTGGCTGGAGAGGCTGGAGAGGGGGCTGGAGAACCTGCCCCCACTGTGAGGTCCGAGGTAGAGGCAGCTGCCATTCTAACGCGAGCCATGAGGAAGGTGCAGGAGCAGTGGAGAGGCTGGGAACCCGGAGGCTCAGCTCTGTCCTCTTGCTTGCTTGTTTCAGATGCTGAGAAAGCCAAATAGAGGCTGGCAGTGGGTGAGACGTGGCCCCCAGGAGTGGCCTGTCTGCAACCCCTGTGCCAGCAACTTACCCCCTCTACAGCCAGGGAGACTCAGTTCCCAGAGAGGGACAGCTGGCCTGACGAGAGTCACCCATCCACACAGAGCCAGGGGCCTGCACCCTGCACCCAGCACGCCCAAGCTCTCCAATTCTCTGAGCCTGCCGTGTAACCAAGGGATTCCGACCCGAATCACCTTTGCCCTGGTAGACCAGCAGCCCACTGGGGCCCCGGAACTCAATGGTGTCTCCAATCTGCATGCTCTCCAGGTACTGAGACATCTTCCCTCCAGCGGGAAACTTGGGATGGGTGTCCTTGAAGTAAACCTGCAAGACACCCCCGCAGCCCTCAGTCCCCAGCTCCAGGTCTCAGGGGCGAGCTCTTGCCCACAGTGGGAGACAAGTGCCTCTTCTGCAGCTTCTTCTGAGGCCCACACATGGCCTTCTCCCGTGGAGCCCCATCCACCCAGCCGTCAAATCCTACCTGTCCTGCACCCCGTCCTTCACCCCGTCCTCCCAGGAGTCAGCCTCCACCTGACATATCCGGGGAAAGCAAACCACCAGCCTCGTGTACAAGGCCGACCAACTCCAGGGCTGGATGCACTCACATTTCACCAACTGTCTCTGGGGCCCCCTCCCAACGGGAGACACTGAACCCGTCAGCAAAGTCAAGGCTCTGGGAGGCCCACTAAGCCACACTCCTCCTGGTGGACACTCAGTCCCTTCCGTTTTGTGCTGTCGCTAAAAACCTCCCTCACTCTTGGGACTACTTCCTGCCCTGCACTCTCTAGGATTACTGTCTTGGGAAAGAGAAGGGCCTCAATCCGACACCTACAAAGAAATGGGGAGACAGAGGAGGAGCGGCTCACCCTGCCCAAGGAGTCTGATGGATGGAGAAGGGGAAGGTGGCTGGGGGAGGGACAGCGTGTACACAGTGCCTCAGGGAGGGGAGCCTGTTGTGGCTTCAGCACAGAGGGTGGCTATGGGGTGTGGAGGCAGAGGGGAGTGGAGGGCCACGGACAGGCAGGCAGAGCACACTGTCCTGGGCCCTGGGTGCCAGGCCAGGACTCTAACCTTTATCAAGGACCAAGGGAGCCAGCCAGGTCTCCAAGCCAGGAGAGGCCTGGTCACCTGTGAGTTTTTCATCCTCAATTTGAATCCTCCTAATAGCTTCTCCACATTTGGCCAGAGAGACTTCAACGTGAACAGATGCTTGAGCCCTCATCACCTCCTCTGTGCTTCTGGACAAAGCCCCAAACCTTACTGGGGCCTCCAAGGCCCCGTCTGGCCCCACTGACCTCTCCCACCCCTTGCCCCAACCCTCCAGCCACTTCAATCCTTGAGCCTGCTGCTGACTTCAGGGCCTTTGCACCTGAAGCTCCTTTTCTTCCTTCTTCACCTGGTCAGTGCCTACTCAGC 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GGGTGGATCACTTGAGCTCATGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAGAATTAGCTGGATGTGGTGGCGGGCACCTGTAATCGCAGCTACTCAGGTAGCTGAGGCAGGACAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTCACGCCATTGCACTCCAGCCTGGGCAATAAGAGTGAAATTCCGTCTCAATTTTTTTAAAAAAAGTTATGTCTTCCTCTCTGAGCTAAAGTGTGTCTCATGCTTTAATCCTCACCACCATCCTTTGAGGTGGCCACCGCCGCGACCCACCTGACAGATGAACAGAGGGATGGAACCTTGGGGGGCTGCTACTCGAGGGTAGGGGGCTCCCAGCTCAAAACCAGGCACTGAGGTCACGGAGGAAGGTAGGAGAGGAAACGAGCAGCAATGACCCGACTGGCACGGTTCTCGGAGTGTAGCATGGGGACCCCTGGGGTTGGGACCCTGGAGAGGATCCCTGAGGCCAAATGGTTTTCATATAATACTGAGACACTGGTATTTTTCACTCTTCCTCTCTCAGTAGATGGGGCCACTTTCCAGAGGCTGCGTGACTGGCAACATCACACAGATGGGATGTAGAAACAAACACAGGAATCTAGCTGTCCTATGAAGCCAGACATTCCAAGGTTTGCAAAAACGTAAAACAGAATGATGTTTTCTAAAATAGTTTTTTAAAAATAAAAATAGGCTGGGTACTGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGGCACACATCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAGGATTGTGCCATTGCACTCCAGCCTGAGGGACAAGAGCGAGACTTTGTATCAAAATAAATAAATAAATAAAACCCTGGTTTGCATCCTGGTTTCAGCACTTCCCACGAGACATGCACAGTCAAGCCCCTCCCGGAGCCTGTGTTCGGAGGTATGAGATGAGGCGACCACACTGCCCTCGCTACCAGCTGCAAAGATGGCCTGTACAGGTGACAGACGGTCTGACGGCCTCCACAGACTCTGAACCAGCACCACCAAGTCTCACTGCTGCCCTCTCTCCCTCCACACCAGCCAGCTTAGAATTTCTGGCTCTTTCTCCCCTGGGCCTGGCAAGGCCATCTTGGTTGGCCTTGCGGCAGTTTTCTGCAGCTGCGGGGAGGCAGGGTGGGGCAAGGACCCACATCCAAGGACCTCAGGCAAGCATCTTCTCCCCCAAATCTACGTCATCAGTCACAAAACACTAACCTGAAAAGACCTTGCAACAACCCAGTTTCATCAGCTCATTCTACAGATGAGGGAGTGAAGCTCAGAGAGGGAAAGTAGCTCGTCCAAGACCACACAGCAGGCCAGGGCGGGCAGGCAGGCAGTGGGCTCGTGGACAAGGATATGAATCAGGAGCCAGAGACACCAACATTCAAATCCTGCCCTGACACCCTGTAGCTCAGGGGCTTCGTGCAAATGTCTGGTCATTTGTAAGATGGGCCCCTCCATGTCCAGGCCAGCATTCTTCCCACTCTACCAGTGGGTTCCACACCGTGCTCATGGTGAAGGGAGTTCTGAGTTTTGGAGGAAGCAGCCAGGGGAGGGGGTGCTCAGGGAGCTCCCCGCAAGGCAGCCCCCTCAGCCAGACACAGGCGCTGCACCACAAAGCCTGCCCGCCGTGCTGCTGCCAAGGCCGCCAGTGCACAGAACATTCAGGGCCCCCCATCCCGGTCATCCCCAGAATCTCAGCAGAGCTGTGCAGACCCCTGGAACAGCACCTGACCAGGCCCGAAGTCCCCTCTCAGGGTAAGCTGAGTTTCCCCATCATGGGGATGCCCACTGACCTGGTTGGCAAAGAGCAGGTGGTACACAGTGTGGTCATCAGGGTCCTTCATGATGGCGCGGATCACCTGCAGCATCGGGGTGATGCCTGCAAAATAGCCGGCCGGGCCTCGCACGTGCTGAGCGAGGCCTGTTCACAGGCACCGCCCCGCCCAGGTGTACTGGGGTGGAGGGGCCAGGACCACTGGGCCTGGGCCCCTGACCTCTGGTAGCTCCCAGGCACTCAGAACCTGCGCCTCACCCACACCCCAACCCCACCCTTAACATGAGCCGCCGGACGCCTCAGTGGGGGGTTCCGTGTACCTGTCCCTCCCGCGATCATGCCCACAGACTTCACTGTCCTGATGATAGGGTTGGACTTTTTGTCAGGTCGGATGGCGAACTTCCCTGGGGAGAGAGAAGGGGTGAGGCCCGGCCATCAAACATGCCATGTGTGGTGGCTGGAGAGGCTGGAGAGGGGGCTGGAGAACCTGCCCCCACTGTGAGGTCCGAGGTAGAGGCAGCTGCCATTCTAACGCGAGCCATGAGGAAGGTGCAGGAGCAGTGGAGAGGCTGGGAACCCGGAGGCTCAGCTCTGTCCTCTTGCTTGCTTGTTTCAGATGCTGAGAAAGCCAAATAGAGGCTGGCAGTGGGTGAGACGTGGCCCCCAGGAGTGGCCTGTCTGCAACCCCTGTGCCAGCAACTTACCCCCTCTACAGCCAGGGAGACTCAGTTCCCAGAGAGGGACAGCTGGCCTGACGAGAGTCACCCATCCACACAGAGCCAGGGGCCTGCACCCTGCACCCAGCACGCCCAAGCTCTCCAATTCTCTGAGCCTGCCGTGTAACCAAGGGATTCCGACCCGAATCACCTTTGCCCTGGTAGACCAGCAGCCCACTGGGGCCCCGGAACTCAATGGTGTCTCCAATCTGCATGCTCTCCAGGTACTGAGACATCTTCCCTCCAGCGGGAAACTTGGGATGGGTGTCCTTGAAGTAAACCTGCAAGACACCCCCGCAGCCCTCAGTCCCCAGCTCCAGGTCTCAGGGGCGAGCTCTTGCCCACAGTGGGAGACAAGTGCCTCTTCTGCAGCTTCTTCTGAGGCCCACACATGGCCTTCTCCCGTGGAGCCCCATCCACCCAGCCGTCAAATCCTACCTGTCCTGCACCCCGTCCTTCACCCCGTCCTCCCAGGAGTCAGCCTCCACCTGACATATCCGGGGAAAGCAAACCACCAGCCTCGTGTACAAGGCCGACCAACTCCAGGGCTGGATGCACTCACATTTCACCAACTGTCTCTGGGGCCCCCTCCCAACGGGAGACACTGAACCCGTCAGCAAAGTCAAGGCTCTGGGAGGCCCACTAAGCCACACTCCTCCTGGTGGACACTCAGTCCCTTCCGTTTTGTGCTGTCGCTAAAAACCTCCCTCACTCTTGGGACTACTTCCTGCCCTGCACTCTCTAGGATTACTGTCTTGGGAAAGAGAAGGGCCTCAATCCGACACCTACAAAGAAATGGGGAGACAGAGGAGGAGCGGCTCACCCTGCCCAAGGAGTCTGATGGATGGAGAAGGGGAAGGTGGCTGGGGGAGGGACAGCGTGTACACAGTGCCTCAGGGAGGGGAGCCTGTTGTGGCTTCAGCACAGAGGGTGGCTATGGGGTGTGGAGGCAGAGGGGAGTGGAGGGCCACGGACAGGCAGGCAGAGCACACTGTCCTGGGCCCTGGGTGCCAGGCCAGGACTCTAACCTTTATCAAGGACCAAGGGAGCCAGCCAGGTCTCCAAGCCAGGAGAGGCCTGGTCACCTGTGAGTTTTTCATCCTCAATTTGAATCCTCCTAATAGCTTCTCCACATTTGGCCAGAGAGACTTCAACGTGAACAGATGCTTGAGCCCTCATCACCTCCTCTGTGCTTCTGGACAAAGCCCCAAACCTTACTGGGGCCTCCAAGGCCCCGTCTGGCCCCACTGACCTCTCCCACCCCTTGCCCCAACCCTCCAGCCACTTCAATCCTTGAGCCTGCTGCTGACTTCAGGGCCTTTGCACCTGAAGCTCCTTTTCTTCCTTCTTCACCTGGTCAGTGCCTACTCAGC 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Task1_train_28881 | A mutation in CYB5R3 (cytochrome b5 reductase 3), located on Chromosome 22, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; METHEMOGLOBINEMIA, TYPE II | GGTGGATCACTTGAGCTCATGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAGAATTAGCTGGATGTGGTGGCGGGCACCTGTAATCGCAGCTACTCAGGTAGCTGAGGCAGGACAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTCACGCCATTGCACTCCAGCCTGGGCAATAAGAGTGAAATTCCGTCTCAATTTTTTTAAAAAAAGTTATGTCTTCCTCTCTGAGCTAAAGTGTGTCTCATGCTTTAATCCTCACCACCATCCTTTGAGGTGGCCACCGCCGCGACCCACCTGACAGATGAACAGAGGGATGGAACCTTGGGGGGCTGCTACTCGAGGGTAGGGGGCTCCCAGCTCAAAACCAGGCACTGAGGTCACGGAGGAAGGTAGGAGAGGAAACGAGCAGCAATGACCCGACTGGCACGGTTCTCGGAGTGTAGCATGGGGACCCCTGGGGTTGGGACCCTGGAGAGGATCCCTGAGGCCAAATGGTTTTCATATAATACTGAGACACTGGTATTTTTCACTCTTCCTCTCTCAGTAGATGGGGCCACTTTCCAGAGGCTGCGTGACTGGCAACATCACACAGATGGGATGTAGAAACAAACACAGGAATCTAGCTGTCCTATGAAGCCAGACATTCCAAGGTTTGCAAAAACGTAAAACAGAATGATGTTTTCTAAAATAGTTTTTTAAAAATAAAAATAGGCTGGGTACTGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGGCACACATCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAGGATTGTGCCATTGCACTCCAGCCTGAGGGACAAGAGCGAGACTTTGTATCAAAATAAATAAATAAATAAAACCCTGGTTTGCATCCTGGTTTCAGCACTTCCCACGAGACATGCACAGTCAAGCCCCTCCCGGAGCCTGTGTTCGGAGGTATGAGATGAGGCGACCACACTGCCCTCGCTACCAGCTGCAAAGATGGCCTGTACAGGTGACAGACGGTCTGACGGCCTCCACAGACTCTGAACCAGCACCACCAAGTCTCACTGCTGCCCTCTCTCCCTCCACACCAGCCAGCTTAGAATTTCTGGCTCTTTCTCCCCTGGGCCTGGCAAGGCCATCTTGGTTGGCCTTGCGGCAGTTTTCTGCAGCTGCGGGGAGGCAGGGTGGGGCAAGGACCCACATCCAAGGACCTCAGGCAAGCATCTTCTCCCCCAAATCTACGTCATCAGTCACAAAACACTAACCTGAAAAGACCTTGCAACAACCCAGTTTCATCAGCTCATTCTACAGATGAGGGAGTGAAGCTCAGAGAGGGAAAGTAGCTCGTCCAAGACCACACAGCAGGCCAGGGCGGGCAGGCAGGCAGTGGGCTCGTGGACAAGGATATGAATCAGGAGCCAGAGACACCAACATTCAAATCCTGCCCTGACACCCTGTAGCTCAGGGGCTTCGTGCAAATGTCTGGTCATTTGTAAGATGGGCCCCTCCATGTCCAGGCCAGCATTCTTCCCACTCTACCAGTGGGTTCCACACCGTGCTCATGGTGAAGGGAGTTCTGAGTTTTGGAGGAAGCAGCCAGGGGAGGGGGTGCTCAGGGAGCTCCCCGCAAGGCAGCCCCCTCAGCCAGACACAGGCGCTGCACCACAAAGCCTGCCCGCCGTGCTGCTGCCAAGGCCGCCAGTGCACAGAACATTCAGGGCCCCCCATCCCGGTCATCCCCAGAATCTCAGCAGAGCTGTGCAGACCCCTGGAACAGCACCTGACCAGGCCCGAAGTCCCCTCTCAGGGTAAGCTGAGTTTCCCCATCATGGGGATGCCCACTGACCTGGTTGGCAAAGAGCAGGTGGCACACAGTGTGGTCATCAGGGTCCTTCATGATGGCGCGGATCACCTGCAGCATCGGGGTGATGCCTGCAAAATAGCCGGCCGGGCCTCGCACGTGCTGAGCGAGGCCTGTTCACAGGCACCGCCCCGCCCAGGTGTACTGGGGTGGAGGGGCCAGGACCACTGGGCCTGGGCCCCTGACCTCTGGTAGCTCCCAGGCACTCAGAACCTGCGCCTCACCCACACCCCAACCCCACCCTTAACATGAGCCGCCGGACGCCTCAGTGGGGGGTTCCGTGTACCTGTCCCTCCCGCGATCATGCCCACAGACTTCACTGTCCTGATGATAGGGTTGGACTTTTTGTCAGGTCGGATGGCGAACTTCCCTGGGGAGAGAGAAGGGGTGAGGCCCGGCCATCAAACATGCCATGTGTGGTGGCTGGAGAGGCTGGAGAGGGGGCTGGAGAACCTGCCCCCACTGTGAGGTCCGAGGTAGAGGCAGCTGCCATTCTAACGCGAGCCATGAGGAAGGTGCAGGAGCAGTGGAGAGGCTGGGAACCCGGAGGCTCAGCTCTGTCCTCTTGCTTGCTTGTTTCAGATGCTGAGAAAGCCAAATAGAGGCTGGCAGTGGGTGAGACGTGGCCCCCAGGAGTGGCCTGTCTGCAACCCCTGTGCCAGCAACTTACCCCCTCTACAGCCAGGGAGACTCAGTTCCCAGAGAGGGACAGCTGGCCTGACGAGAGTCACCCATCCACACAGAGCCAGGGGCCTGCACCCTGCACCCAGCACGCCCAAGCTCTCCAATTCTCTGAGCCTGCCGTGTAACCAAGGGATTCCGACCCGAATCACCTTTGCCCTGGTAGACCAGCAGCCCACTGGGGCCCCGGAACTCAATGGTGTCTCCAATCTGCATGCTCTCCAGGTACTGAGACATCTTCCCTCCAGCGGGAAACTTGGGATGGGTGTCCTTGAAGTAAACCTGCAAGACACCCCCGCAGCCCTCAGTCCCCAGCTCCAGGTCTCAGGGGCGAGCTCTTGCCCACAGTGGGAGACAAGTGCCTCTTCTGCAGCTTCTTCTGAGGCCCACACATGGCCTTCTCCCGTGGAGCCCCATCCACCCAGCCGTCAAATCCTACCTGTCCTGCACCCCGTCCTTCACCCCGTCCTCCCAGGAGTCAGCCTCCACCTGACATATCCGGGGAAAGCAAACCACCAGCCTCGTGTACAAGGCCGACCAACTCCAGGGCTGGATGCACTCACATTTCACCAACTGTCTCTGGGGCCCCCTCCCAACGGGAGACACTGAACCCGTCAGCAAAGTCAAGGCTCTGGGAGGCCCACTAAGCCACACTCCTCCTGGTGGACACTCAGTCCCTTCCGTTTTGTGCTGTCGCTAAAAACCTCCCTCACTCTTGGGACTACTTCCTGCCCTGCACTCTCTAGGATTACTGTCTTGGGAAAGAGAAGGGCCTCAATCCGACACCTACAAAGAAATGGGGAGACAGAGGAGGAGCGGCTCACCCTGCCCAAGGAGTCTGATGGATGGAGAAGGGGAAGGTGGCTGGGGGAGGGACAGCGTGTACACAGTGCCTCAGGGAGGGGAGCCTGTTGTGGCTTCAGCACAGAGGGTGGCTATGGGGTGTGGAGGCAGAGGGGAGTGGAGGGCCACGGACAGGCAGGCAGAGCACACTGTCCTGGGCCCTGGGTGCCAGGCCAGGACTCTAACCTTTATCAAGGACCAAGGGAGCCAGCCAGGTCTCCAAGCCAGGAGAGGCCTGGTCACCTGTGAGTTTTTCATCCTCAATTTGAATCCTCCTAATAGCTTCTCCACATTTGGCCAGAGAGACTTCAACGTGAACAGATGCTTGAGCCCTCATCACCTCCTCTGTGCTTCTGGACAAAGCCCCAAACCTTACTGGGGCCTCCAAGGCCCCGTCTGGCCCCACTGACCTCTCCCACCCCTTGCCCCAACCCTCCAGCCACTTCAATCCTTGAGCCTGCTGCTGACTTCAGGGCCTTTGCACCTGAAGCTCCTTTTCTTCCTTCTTCACCTGGTCAGTGCCTACTCAGCC 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GGTGGATCACTTGAGCTCATGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAGAATTAGCTGGATGTGGTGGCGGGCACCTGTAATCGCAGCTACTCAGGTAGCTGAGGCAGGACAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTCACGCCATTGCACTCCAGCCTGGGCAATAAGAGTGAAATTCCGTCTCAATTTTTTTAAAAAAAGTTATGTCTTCCTCTCTGAGCTAAAGTGTGTCTCATGCTTTAATCCTCACCACCATCCTTTGAGGTGGCCACCGCCGCGACCCACCTGACAGATGAACAGAGGGATGGAACCTTGGGGGGCTGCTACTCGAGGGTAGGGGGCTCCCAGCTCAAAACCAGGCACTGAGGTCACGGAGGAAGGTAGGAGAGGAAACGAGCAGCAATGACCCGACTGGCACGGTTCTCGGAGTGTAGCATGGGGACCCCTGGGGTTGGGACCCTGGAGAGGATCCCTGAGGCCAAATGGTTTTCATATAATACTGAGACACTGGTATTTTTCACTCTTCCTCTCTCAGTAGATGGGGCCACTTTCCAGAGGCTGCGTGACTGGCAACATCACACAGATGGGATGTAGAAACAAACACAGGAATCTAGCTGTCCTATGAAGCCAGACATTCCAAGGTTTGCAAAAACGTAAAACAGAATGATGTTTTCTAAAATAGTTTTTTAAAAATAAAAATAGGCTGGGTACTGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGGCACACATCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAGGATTGTGCCATTGCACTCCAGCCTGAGGGACAAGAGCGAGACTTTGTATCAAAATAAATAAATAAATAAAACCCTGGTTTGCATCCTGGTTTCAGCACTTCCCACGAGACATGCACAGTCAAGCCCCTCCCGGAGCCTGTGTTCGGAGGTATGAGATGAGGCGACCACACTGCCCTCGCTACCAGCTGCAAAGATGGCCTGTACAGGTGACAGACGGTCTGACGGCCTCCACAGACTCTGAACCAGCACCACCAAGTCTCACTGCTGCCCTCTCTCCCTCCACACCAGCCAGCTTAGAATTTCTGGCTCTTTCTCCCCTGGGCCTGGCAAGGCCATCTTGGTTGGCCTTGCGGCAGTTTTCTGCAGCTGCGGGGAGGCAGGGTGGGGCAAGGACCCACATCCAAGGACCTCAGGCAAGCATCTTCTCCCCCAAATCTACGTCATCAGTCACAAAACACTAACCTGAAAAGACCTTGCAACAACCCAGTTTCATCAGCTCATTCTACAGATGAGGGAGTGAAGCTCAGAGAGGGAAAGTAGCTCGTCCAAGACCACACAGCAGGCCAGGGCGGGCAGGCAGGCAGTGGGCTCGTGGACAAGGATATGAATCAGGAGCCAGAGACACCAACATTCAAATCCTGCCCTGACACCCTGTAGCTCAGGGGCTTCGTGCAAATGTCTGGTCATTTGTAAGATGGGCCCCTCCATGTCCAGGCCAGCATTCTTCCCACTCTACCAGTGGGTTCCACACCGTGCTCATGGTGAAGGGAGTTCTGAGTTTTGGAGGAAGCAGCCAGGGGAGGGGGTGCTCAGGGAGCTCCCCGCAAGGCAGCCCCCTCAGCCAGACACAGGCGCTGCACCACAAAGCCTGCCCGCCGTGCTGCTGCCAAGGCCGCCAGTGCACAGAACATTCAGGGCCCCCCATCCCGGTCATCCCCAGAATCTCAGCAGAGCTGTGCAGACCCCTGGAACAGCACCTGACCAGGCCCGAAGTCCCCTCTCAGGGTAAGCTGAGTTTCCCCATCATGGGGATGCCCACTGACCTGGTTGGCAAAGAGCAGGTGGCGCACAGTGTGGTCATCAGGGTCCTTCATGATGGCGCGGATCACCTGCAGCATCGGGGTGATGCCTGCAAAATAGCCGGCCGGGCCTCGCACGTGCTGAGCGAGGCCTGTTCACAGGCACCGCCCCGCCCAGGTGTACTGGGGTGGAGGGGCCAGGACCACTGGGCCTGGGCCCCTGACCTCTGGTAGCTCCCAGGCACTCAGAACCTGCGCCTCACCCACACCCCAACCCCACCCTTAACATGAGCCGCCGGACGCCTCAGTGGGGGGTTCCGTGTACCTGTCCCTCCCGCGATCATGCCCACAGACTTCACTGTCCTGATGATAGGGTTGGACTTTTTGTCAGGTCGGATGGCGAACTTCCCTGGGGAGAGAGAAGGGGTGAGGCCCGGCCATCAAACATGCCATGTGTGGTGGCTGGAGAGGCTGGAGAGGGGGCTGGAGAACCTGCCCCCACTGTGAGGTCCGAGGTAGAGGCAGCTGCCATTCTAACGCGAGCCATGAGGAAGGTGCAGGAGCAGTGGAGAGGCTGGGAACCCGGAGGCTCAGCTCTGTCCTCTTGCTTGCTTGTTTCAGATGCTGAGAAAGCCAAATAGAGGCTGGCAGTGGGTGAGACGTGGCCCCCAGGAGTGGCCTGTCTGCAACCCCTGTGCCAGCAACTTACCCCCTCTACAGCCAGGGAGACTCAGTTCCCAGAGAGGGACAGCTGGCCTGACGAGAGTCACCCATCCACACAGAGCCAGGGGCCTGCACCCTGCACCCAGCACGCCCAAGCTCTCCAATTCTCTGAGCCTGCCGTGTAACCAAGGGATTCCGACCCGAATCACCTTTGCCCTGGTAGACCAGCAGCCCACTGGGGCCCCGGAACTCAATGGTGTCTCCAATCTGCATGCTCTCCAGGTACTGAGACATCTTCCCTCCAGCGGGAAACTTGGGATGGGTGTCCTTGAAGTAAACCTGCAAGACACCCCCGCAGCCCTCAGTCCCCAGCTCCAGGTCTCAGGGGCGAGCTCTTGCCCACAGTGGGAGACAAGTGCCTCTTCTGCAGCTTCTTCTGAGGCCCACACATGGCCTTCTCCCGTGGAGCCCCATCCACCCAGCCGTCAAATCCTACCTGTCCTGCACCCCGTCCTTCACCCCGTCCTCCCAGGAGTCAGCCTCCACCTGACATATCCGGGGAAAGCAAACCACCAGCCTCGTGTACAAGGCCGACCAACTCCAGGGCTGGATGCACTCACATTTCACCAACTGTCTCTGGGGCCCCCTCCCAACGGGAGACACTGAACCCGTCAGCAAAGTCAAGGCTCTGGGAGGCCCACTAAGCCACACTCCTCCTGGTGGACACTCAGTCCCTTCCGTTTTGTGCTGTCGCTAAAAACCTCCCTCACTCTTGGGACTACTTCCTGCCCTGCACTCTCTAGGATTACTGTCTTGGGAAAGAGAAGGGCCTCAATCCGACACCTACAAAGAAATGGGGAGACAGAGGAGGAGCGGCTCACCCTGCCCAAGGAGTCTGATGGATGGAGAAGGGGAAGGTGGCTGGGGGAGGGACAGCGTGTACACAGTGCCTCAGGGAGGGGAGCCTGTTGTGGCTTCAGCACAGAGGGTGGCTATGGGGTGTGGAGGCAGAGGGGAGTGGAGGGCCACGGACAGGCAGGCAGAGCACACTGTCCTGGGCCCTGGGTGCCAGGCCAGGACTCTAACCTTTATCAAGGACCAAGGGAGCCAGCCAGGTCTCCAAGCCAGGAGAGGCCTGGTCACCTGTGAGTTTTTCATCCTCAATTTGAATCCTCCTAATAGCTTCTCCACATTTGGCCAGAGAGACTTCAACGTGAACAGATGCTTGAGCCCTCATCACCTCCTCTGTGCTTCTGGACAAAGCCCCAAACCTTACTGGGGCCTCCAAGGCCCCGTCTGGCCCCACTGACCTCTCCCACCCCTTGCCCCAACCCTCCAGCCACTTCAATCCTTGAGCCTGCTGCTGACTTCAGGGCCTTTGCACCTGAAGCTCCTTTTCTTCCTTCTTCACCTGGTCAGTGCCTACTCAGCC 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Task1_train_28882 | Gene CYB5R3 (cytochrome b5 reductase 3) on Chromosome 22 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; METHEMOGLOBINEMIA, TYPE I | CAACATGGTAAAACCCCATCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGGCACACATCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAGGATTGTGCCATTGCACTCCAGCCTGAGGGACAAGAGCGAGACTTTGTATCAAAATAAATAAATAAATAAAACCCTGGTTTGCATCCTGGTTTCAGCACTTCCCACGAGACATGCACAGTCAAGCCCCTCCCGGAGCCTGTGTTCGGAGGTATGAGATGAGGCGACCACACTGCCCTCGCTACCAGCTGCAAAGATGGCCTGTACAGGTGACAGACGGTCTGACGGCCTCCACAGACTCTGAACCAGCACCACCAAGTCTCACTGCTGCCCTCTCTCCCTCCACACCAGCCAGCTTAGAATTTCTGGCTCTTTCTCCCCTGGGCCTGGCAAGGCCATCTTGGTTGGCCTTGCGGCAGTTTTCTGCAGCTGCGGGGAGGCAGGGTGGGGCAAGGACCCACATCCAAGGACCTCAGGCAAGCATCTTCTCCCCCAAATCTACGTCATCAGTCACAAAACACTAACCTGAAAAGACCTTGCAACAACCCAGTTTCATCAGCTCATTCTACAGATGAGGGAGTGAAGCTCAGAGAGGGAAAGTAGCTCGTCCAAGACCACACAGCAGGCCAGGGCGGGCAGGCAGGCAGTGGGCTCGTGGACAAGGATATGAATCAGGAGCCAGAGACACCAACATTCAAATCCTGCCCTGACACCCTGTAGCTCAGGGGCTTCGTGCAAATGTCTGGTCATTTGTAAGATGGGCCCCTCCATGTCCAGGCCAGCATTCTTCCCACTCTACCAGTGGGTTCCACACCGTGCTCATGGTGAAGGGAGTTCTGAGTTTTGGAGGAAGCAGCCAGGGGAGGGGGTGCTCAGGGAGCTCCCCGCAAGGCAGCCCCCTCAGCCAGACACAGGCGCTGCACCACAAAGCCTGCCCGCCGTGCTGCTGCCAAGGCCGCCAGTGCACAGAACATTCAGGGCCCCCCATCCCGGTCATCCCCAGAATCTCAGCAGAGCTGTGCAGACCCCTGGAACAGCACCTGACCAGGCCCGAAGTCCCCTCTCAGGGTAAGCTGAGTTTCCCCATCATGGGGATGCCCACTGACCTGGTTGGCAAAGAGCAGGTGGCACACAGTGTGGTCATCAGGGTCCTTCATGATGGCGCGGATCACCTGCAGCATCGGGGTGATGCCTGCAAAATAGCCGGCCGGGCCTCGCACGTGCTGAGCGAGGCCTGTTCACAGGCACCGCCCCGCCCAGGTGTACTGGGGTGGAGGGGCCAGGACCACTGGGCCTGGGCCCCTGACCTCTGGTAGCTCCCAGGCACTCAGAACCTGCGCCTCACCCACACCCCAACCCCACCCTTAACATGAGCCGCCGGACGCCTCAGTGGGGGGTTCCGTGTACCTGTCCCTCCCGCGATCATGCCCACAGACTTCACTGTCCTGATGATAGGGTTGGACTTTTTGTCAGGTCGGATGGCGAACTTCCCTGGGGAGAGAGAAGGGGTGAGGCCCGGCCATCAAACATGCCATGTGTGGTGGCTGGAGAGGCTGGAGAGGGGGCTGGAGAACCTGCCCCCACTGTGAGGTCCGAGGTAGAGGCAGCTGCCATTCTAACGCGAGCCATGAGGAAGGTGCAGGAGCAGTGGAGAGGCTGGGAACCCGGAGGCTCAGCTCTGTCCTCTTGCTTGCTTGTTTCAGATGCTGAGAAAGCCAAATAGAGGCTGGCAGTGGGTGAGACGTGGCCCCCAGGAGTGGCCTGTCTGCAACCCCTGTGCCAGCAACTTACCCCCTCTACAGCCAGGGAGACTCAGTTCCCAGAGAGGGACAGCTGGCCTGACGAGAGTCACCCATCCACACAGAGCCAGGGGCCTGCACCCTGCACCCAGCACGCCCAAGCTCTCCAATTCTCTGAGCCTGCCGTGTAACCAAGGGATTCCGACCCGAATCACCTTTGCCCTGGTAGACCAGCAGCCCACTGGGGCCCCGGAACTCAATGGTGTCTCCAATCTGCATGCTCTCCAGGTACTGAGACATCTTCCCTCCAGCGGGAAACTTGGGATGGGTGTCCTTGAAGTAAACCTGCAAGACACCCCCGCAGCCCTCAGTCCCCAGCTCCAGGTCTCAGGGGCGAGCTCTTGCCCACAGTGGGAGACAAGTGCCTCTTCTGCAGCTTCTTCTGAGGCCCACACATGGCCTTCTCCCGTGGAGCCCCATCCACCCAGCCGTCAAATCCTACCTGTCCTGCACCCCGTCCTTCACCCCGTCCTCCCAGGAGTCAGCCTCCACCTGACATATCCGGGGAAAGCAAACCACCAGCCTCGTGTACAAGGCCGACCAACTCCAGGGCTGGATGCACTCACATTTCACCAACTGTCTCTGGGGCCCCCTCCCAACGGGAGACACTGAACCCGTCAGCAAAGTCAAGGCTCTGGGAGGCCCACTAAGCCACACTCCTCCTGGTGGACACTCAGTCCCTTCCGTTTTGTGCTGTCGCTAAAAACCTCCCTCACTCTTGGGACTACTTCCTGCCCTGCACTCTCTAGGATTACTGTCTTGGGAAAGAGAAGGGCCTCAATCCGACACCTACAAAGAAATGGGGAGACAGAGGAGGAGCGGCTCACCCTGCCCAAGGAGTCTGATGGATGGAGAAGGGGAAGGTGGCTGGGGGAGGGACAGCGTGTACACAGTGCCTCAGGGAGGGGAGCCTGTTGTGGCTTCAGCACAGAGGGTGGCTATGGGGTGTGGAGGCAGAGGGGAGTGGAGGGCCACGGACAGGCAGGCAGAGCACACTGTCCTGGGCCCTGGGTGCCAGGCCAGGACTCTAACCTTTATCAAGGACCAAGGGAGCCAGCCAGGTCTCCAAGCCAGGAGAGGCCTGGTCACCTGTGAGTTTTTCATCCTCAATTTGAATCCTCCTAATAGCTTCTCCACATTTGGCCAGAGAGACTTCAACGTGAACAGATGCTTGAGCCCTCATCACCTCCTCTGTGCTTCTGGACAAAGCCCCAAACCTTACTGGGGCCTCCAAGGCCCCGTCTGGCCCCACTGACCTCTCCCACCCCTTGCCCCAACCCTCCAGCCACTTCAATCCTTGAGCCTGCTGCTGACTTCAGGGCCTTTGCACCTGAAGCTCCTTTTCTTCCTTCTTCACCTGGTCAGTGCCTACTCAGCCCCAGATCTCACCTTCACTGTCACCTGCTAGGGAGCCACTCTCACCAGCCAACCCCACCCATCCCTGGTGGCCCTTCTGGAAGCTCGGTCGCAGGTACCTGTCCCCTGCAGGGAGCACTGGCTTCCCCATGACTATGTGTCCAGTGTCCGTCCTCCAGCCAAAGACGGGCTCCTGAGGCCAGGCCTGGGCGCCCCAGCAAGGAAGGAGCCCGGGCCAGGGCCCTTCCCACCCTTCAGATCCAGTGCCTGCCCCCAGACCTGGCAAGGTAAGGGCCTCAGCTACGGCCCAGTAAGGGGGCTCCAGGGGTACCTGAGGGTGCTGGGCTGGGGAGGCTATAGGGCTTTGGCCTTGATTGGGGAGGGTCTCCAACACCCCACATACCCACTGGTCTAGGCTGCTTCTCACCCTCTGTTCTGCAGGAAAGCTTGTATTTCTTTTTTTTTGACTGGCTCTCATTCTATTGCCCAGGCTGGAGTACAGTAGCATGATCTTGGCTTACTGCAACCTCTGCCTCCCAGCTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGCACCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTCGGCCAGGCTGGTCTCTAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGGCTTACAGGTGTGAGCCACTGTGCCTGGCTGAAAGCTTGTATTTCTAATTTTCATAAAAACGTCCCTGCTGGGGCCGTCATGCTGCCTCTTACTTCCCACTCGGCATGTGTGTTTCAGGTTCCGGGCTGCTGCCCCTAACGCCTGCATCTT 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CAACATGGTAAAACCCCATCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGGCACACATCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAGGATTGTGCCATTGCACTCCAGCCTGAGGGACAAGAGCGAGACTTTGTATCAAAATAAATAAATAAATAAAACCCTGGTTTGCATCCTGGTTTCAGCACTTCCCACGAGACATGCACAGTCAAGCCCCTCCCGGAGCCTGTGTTCGGAGGTATGAGATGAGGCGACCACACTGCCCTCGCTACCAGCTGCAAAGATGGCCTGTACAGGTGACAGACGGTCTGACGGCCTCCACAGACTCTGAACCAGCACCACCAAGTCTCACTGCTGCCCTCTCTCCCTCCACACCAGCCAGCTTAGAATTTCTGGCTCTTTCTCCCCTGGGCCTGGCAAGGCCATCTTGGTTGGCCTTGCGGCAGTTTTCTGCAGCTGCGGGGAGGCAGGGTGGGGCAAGGACCCACATCCAAGGACCTCAGGCAAGCATCTTCTCCCCCAAATCTACGTCATCAGTCACAAAACACTAACCTGAAAAGACCTTGCAACAACCCAGTTTCATCAGCTCATTCTACAGATGAGGGAGTGAAGCTCAGAGAGGGAAAGTAGCTCGTCCAAGACCACACAGCAGGCCAGGGCGGGCAGGCAGGCAGTGGGCTCGTGGACAAGGATATGAATCAGGAGCCAGAGACACCAACATTCAAATCCTGCCCTGACACCCTGTAGCTCAGGGGCTTCGTGCAAATGTCTGGTCATTTGTAAGATGGGCCCCTCCATGTCCAGGCCAGCATTCTTCCCACTCTACCAGTGGGTTCCACACCGTGCTCATGGTGAAGGGAGTTCTGAGTTTTGGAGGAAGCAGCCAGGGGAGGGGGTGCTCAGGGAGCTCCCCGCAAGGCAGCCCCCTCAGCCAGACACAGGCGCTGCACCACAAAGCCTGCCCGCCGTGCTGCTGCCAAGGCCGCCAGTGCACAGAACATTCAGGGCCCCCCATCCCGGTCATCCCCAGAATCTCAGCAGAGCTGTGCAGACCCCTGGAACAGCACCTGACCAGGCCCGAAGTCCCCTCTCAGGGTAAGCTGAGTTTCCCCATCATGGGGATGCCCACTGACCTGGTTGGCAAAGAGCAGGTGGCACACAGTGTGGTCATCAGGGTCCTTCATGATGGCGCGGATCACCTGCAGCATCGGGGTGATGCCTGCAAAATAGCCGGCCGGGCCTCGCACGTGCTGAGCGAGGCCTGTTCACAGGCACCGCCCCGCCCAGGTGTACTGGGGTGGAGGGGCCAGGACCACTGGGCCTGGGCCCCTGACCTCTGGTAGCTCCCAGGCACTCAGAACCTGCGCCTCACCCACACCCCAACCCCACCCTTAACATGAGCCGCCGGACGCCTCAGTGGGGGGTTCCGTGTACCTGTCCCTCCCGCGATCATGCCCACAGACTTCACTGTCCTGATGATAGGGTTGGACTTTTTGTCAGGTCGGATGGCGAACTTCCCTGGGGAGAGAGAAGGGGTGAGGCCCGGCCATCAAACATGCCATGTGTGGTGGCTGGAGAGGCTGGAGAGGGGGCTGGAGAACCTGCCCCCACTGTGAGGTCCGAGGTAGAGGCAGCTGCCATTCTAACGCGAGCCATGAGGAAGGTGCAGGAGCAGTGGAGAGGCTGGGAACCCGGAGGCTCAGCTCTGTCCTCTTGCTTGCTTGTTTCAGATGCTGAGAAAGCCAAATAGAGGCTGGCAGTGGGTGAGACGTGGCCCCCAGGAGTGGCCTGTCTGCAACCCCTGTGCCAGCAACTTACCCCCTCTACAGCCAGGGAGACTCAGTTCCCAGAGAGGGACAGCTGGCCTGACGAGAGTCACCCATCCACACAGAGCCAGGGGCCTGCACCCTGCACCCAGCACGCCCAAGCTCTCCAATTCTCTGAGCCTGCCGTGTAACCAAGGGATTCCGACCCGAATCACCTTTGCCCTGGTAGACCGGCAGCCCACTGGGGCCCCGGAACTCAATGGTGTCTCCAATCTGCATGCTCTCCAGGTACTGAGACATCTTCCCTCCAGCGGGAAACTTGGGATGGGTGTCCTTGAAGTAAACCTGCAAGACACCCCCGCAGCCCTCAGTCCCCAGCTCCAGGTCTCAGGGGCGAGCTCTTGCCCACAGTGGGAGACAAGTGCCTCTTCTGCAGCTTCTTCTGAGGCCCACACATGGCCTTCTCCCGTGGAGCCCCATCCACCCAGCCGTCAAATCCTACCTGTCCTGCACCCCGTCCTTCACCCCGTCCTCCCAGGAGTCAGCCTCCACCTGACATATCCGGGGAAAGCAAACCACCAGCCTCGTGTACAAGGCCGACCAACTCCAGGGCTGGATGCACTCACATTTCACCAACTGTCTCTGGGGCCCCCTCCCAACGGGAGACACTGAACCCGTCAGCAAAGTCAAGGCTCTGGGAGGCCCACTAAGCCACACTCCTCCTGGTGGACACTCAGTCCCTTCCGTTTTGTGCTGTCGCTAAAAACCTCCCTCACTCTTGGGACTACTTCCTGCCCTGCACTCTCTAGGATTACTGTCTTGGGAAAGAGAAGGGCCTCAATCCGACACCTACAAAGAAATGGGGAGACAGAGGAGGAGCGGCTCACCCTGCCCAAGGAGTCTGATGGATGGAGAAGGGGAAGGTGGCTGGGGGAGGGACAGCGTGTACACAGTGCCTCAGGGAGGGGAGCCTGTTGTGGCTTCAGCACAGAGGGTGGCTATGGGGTGTGGAGGCAGAGGGGAGTGGAGGGCCACGGACAGGCAGGCAGAGCACACTGTCCTGGGCCCTGGGTGCCAGGCCAGGACTCTAACCTTTATCAAGGACCAAGGGAGCCAGCCAGGTCTCCAAGCCAGGAGAGGCCTGGTCACCTGTGAGTTTTTCATCCTCAATTTGAATCCTCCTAATAGCTTCTCCACATTTGGCCAGAGAGACTTCAACGTGAACAGATGCTTGAGCCCTCATCACCTCCTCTGTGCTTCTGGACAAAGCCCCAAACCTTACTGGGGCCTCCAAGGCCCCGTCTGGCCCCACTGACCTCTCCCACCCCTTGCCCCAACCCTCCAGCCACTTCAATCCTTGAGCCTGCTGCTGACTTCAGGGCCTTTGCACCTGAAGCTCCTTTTCTTCCTTCTTCACCTGGTCAGTGCCTACTCAGCCCCAGATCTCACCTTCACTGTCACCTGCTAGGGAGCCACTCTCACCAGCCAACCCCACCCATCCCTGGTGGCCCTTCTGGAAGCTCGGTCGCAGGTACCTGTCCCCTGCAGGGAGCACTGGCTTCCCCATGACTATGTGTCCAGTGTCCGTCCTCCAGCCAAAGACGGGCTCCTGAGGCCAGGCCTGGGCGCCCCAGCAAGGAAGGAGCCCGGGCCAGGGCCCTTCCCACCCTTCAGATCCAGTGCCTGCCCCCAGACCTGGCAAGGTAAGGGCCTCAGCTACGGCCCAGTAAGGGGGCTCCAGGGGTACCTGAGGGTGCTGGGCTGGGGAGGCTATAGGGCTTTGGCCTTGATTGGGGAGGGTCTCCAACACCCCACATACCCACTGGTCTAGGCTGCTTCTCACCCTCTGTTCTGCAGGAAAGCTTGTATTTCTTTTTTTTTGACTGGCTCTCATTCTATTGCCCAGGCTGGAGTACAGTAGCATGATCTTGGCTTACTGCAACCTCTGCCTCCCAGCTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGCACCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTCGGCCAGGCTGGTCTCTAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGGCTTACAGGTGTGAGCCACTGTGCCTGGCTGAAAGCTTGTATTTCTAATTTTCATAAAAACGTCCCTGCTGGGGCCGTCATGCTGCCTCTTACTTCCCACTCGGCATGTGTGTTTCAGGTTCCGGGCTGCTGCCCCTAACGCCTGCATCTT 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Task1_train_28883 | A genetic alteration is present in CYB5R3 (cytochrome b5 reductase 3) on Chromosome 22. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; METHEMOGLOBINEMIA, TYPE II | CTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAGGATTGTGCCATTGCACTCCAGCCTGAGGGACAAGAGCGAGACTTTGTATCAAAATAAATAAATAAATAAAACCCTGGTTTGCATCCTGGTTTCAGCACTTCCCACGAGACATGCACAGTCAAGCCCCTCCCGGAGCCTGTGTTCGGAGGTATGAGATGAGGCGACCACACTGCCCTCGCTACCAGCTGCAAAGATGGCCTGTACAGGTGACAGACGGTCTGACGGCCTCCACAGACTCTGAACCAGCACCACCAAGTCTCACTGCTGCCCTCTCTCCCTCCACACCAGCCAGCTTAGAATTTCTGGCTCTTTCTCCCCTGGGCCTGGCAAGGCCATCTTGGTTGGCCTTGCGGCAGTTTTCTGCAGCTGCGGGGAGGCAGGGTGGGGCAAGGACCCACATCCAAGGACCTCAGGCAAGCATCTTCTCCCCCAAATCTACGTCATCAGTCACAAAACACTAACCTGAAAAGACCTTGCAACAACCCAGTTTCATCAGCTCATTCTACAGATGAGGGAGTGAAGCTCAGAGAGGGAAAGTAGCTCGTCCAAGACCACACAGCAGGCCAGGGCGGGCAGGCAGGCAGTGGGCTCGTGGACAAGGATATGAATCAGGAGCCAGAGACACCAACATTCAAATCCTGCCCTGACACCCTGTAGCTCAGGGGCTTCGTGCAAATGTCTGGTCATTTGTAAGATGGGCCCCTCCATGTCCAGGCCAGCATTCTTCCCACTCTACCAGTGGGTTCCACACCGTGCTCATGGTGAAGGGAGTTCTGAGTTTTGGAGGAAGCAGCCAGGGGAGGGGGTGCTCAGGGAGCTCCCCGCAAGGCAGCCCCCTCAGCCAGACACAGGCGCTGCACCACAAAGCCTGCCCGCCGTGCTGCTGCCAAGGCCGCCAGTGCACAGAACATTCAGGGCCCCCCATCCCGGTCATCCCCAGAATCTCAGCAGAGCTGTGCAGACCCCTGGAACAGCACCTGACCAGGCCCGAAGTCCCCTCTCAGGGTAAGCTGAGTTTCCCCATCATGGGGATGCCCACTGACCTGGTTGGCAAAGAGCAGGTGGCACACAGTGTGGTCATCAGGGTCCTTCATGATGGCGCGGATCACCTGCAGCATCGGGGTGATGCCTGCAAAATAGCCGGCCGGGCCTCGCACGTGCTGAGCGAGGCCTGTTCACAGGCACCGCCCCGCCCAGGTGTACTGGGGTGGAGGGGCCAGGACCACTGGGCCTGGGCCCCTGACCTCTGGTAGCTCCCAGGCACTCAGAACCTGCGCCTCACCCACACCCCAACCCCACCCTTAACATGAGCCGCCGGACGCCTCAGTGGGGGGTTCCGTGTACCTGTCCCTCCCGCGATCATGCCCACAGACTTCACTGTCCTGATGATAGGGTTGGACTTTTTGTCAGGTCGGATGGCGAACTTCCCTGGGGAGAGAGAAGGGGTGAGGCCCGGCCATCAAACATGCCATGTGTGGTGGCTGGAGAGGCTGGAGAGGGGGCTGGAGAACCTGCCCCCACTGTGAGGTCCGAGGTAGAGGCAGCTGCCATTCTAACGCGAGCCATGAGGAAGGTGCAGGAGCAGTGGAGAGGCTGGGAACCCGGAGGCTCAGCTCTGTCCTCTTGCTTGCTTGTTTCAGATGCTGAGAAAGCCAAATAGAGGCTGGCAGTGGGTGAGACGTGGCCCCCAGGAGTGGCCTGTCTGCAACCCCTGTGCCAGCAACTTACCCCCTCTACAGCCAGGGAGACTCAGTTCCCAGAGAGGGACAGCTGGCCTGACGAGAGTCACCCATCCACACAGAGCCAGGGGCCTGCACCCTGCACCCAGCACGCCCAAGCTCTCCAATTCTCTGAGCCTGCCGTGTAACCAAGGGATTCCGACCCGAATCACCTTTGCCCTGGTAGACCAGCAGCCCACTGGGGCCCCGGAACTCAATGGTGTCTCCAATCTGCATGCTCTCCAGGTACTGAGACATCTTCCCTCCAGCGGGAAACTTGGGATGGGTGTCCTTGAAGTAAACCTGCAAGACACCCCCGCAGCCCTCAGTCCCCAGCTCCAGGTCTCAGGGGCGAGCTCTTGCCCACAGTGGGAGACAAGTGCCTCTTCTGCAGCTTCTTCTGAGGCCCACACATGGCCTTCTCCCGTGGAGCCCCATCCACCCAGCCGTCAAATCCTACCTGTCCTGCACCCCGTCCTTCACCCCGTCCTCCCAGGAGTCAGCCTCCACCTGACATATCCGGGGAAAGCAAACCACCAGCCTCGTGTACAAGGCCGACCAACTCCAGGGCTGGATGCACTCACATTTCACCAACTGTCTCTGGGGCCCCCTCCCAACGGGAGACACTGAACCCGTCAGCAAAGTCAAGGCTCTGGGAGGCCCACTAAGCCACACTCCTCCTGGTGGACACTCAGTCCCTTCCGTTTTGTGCTGTCGCTAAAAACCTCCCTCACTCTTGGGACTACTTCCTGCCCTGCACTCTCTAGGATTACTGTCTTGGGAAAGAGAAGGGCCTCAATCCGACACCTACAAAGAAATGGGGAGACAGAGGAGGAGCGGCTCACCCTGCCCAAGGAGTCTGATGGATGGAGAAGGGGAAGGTGGCTGGGGGAGGGACAGCGTGTACACAGTGCCTCAGGGAGGGGAGCCTGTTGTGGCTTCAGCACAGAGGGTGGCTATGGGGTGTGGAGGCAGAGGGGAGTGGAGGGCCACGGACAGGCAGGCAGAGCACACTGTCCTGGGCCCTGGGTGCCAGGCCAGGACTCTAACCTTTATCAAGGACCAAGGGAGCCAGCCAGGTCTCCAAGCCAGGAGAGGCCTGGTCACCTGTGAGTTTTTCATCCTCAATTTGAATCCTCCTAATAGCTTCTCCACATTTGGCCAGAGAGACTTCAACGTGAACAGATGCTTGAGCCCTCATCACCTCCTCTGTGCTTCTGGACAAAGCCCCAAACCTTACTGGGGCCTCCAAGGCCCCGTCTGGCCCCACTGACCTCTCCCACCCCTTGCCCCAACCCTCCAGCCACTTCAATCCTTGAGCCTGCTGCTGACTTCAGGGCCTTTGCACCTGAAGCTCCTTTTCTTCCTTCTTCACCTGGTCAGTGCCTACTCAGCCCCAGATCTCACCTTCACTGTCACCTGCTAGGGAGCCACTCTCACCAGCCAACCCCACCCATCCCTGGTGGCCCTTCTGGAAGCTCGGTCGCAGGTACCTGTCCCCTGCAGGGAGCACTGGCTTCCCCATGACTATGTGTCCAGTGTCCGTCCTCCAGCCAAAGACGGGCTCCTGAGGCCAGGCCTGGGCGCCCCAGCAAGGAAGGAGCCCGGGCCAGGGCCCTTCCCACCCTTCAGATCCAGTGCCTGCCCCCAGACCTGGCAAGGTAAGGGCCTCAGCTACGGCCCAGTAAGGGGGCTCCAGGGGTACCTGAGGGTGCTGGGCTGGGGAGGCTATAGGGCTTTGGCCTTGATTGGGGAGGGTCTCCAACACCCCACATACCCACTGGTCTAGGCTGCTTCTCACCCTCTGTTCTGCAGGAAAGCTTGTATTTCTTTTTTTTTGACTGGCTCTCATTCTATTGCCCAGGCTGGAGTACAGTAGCATGATCTTGGCTTACTGCAACCTCTGCCTCCCAGCTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGCACCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTCGGCCAGGCTGGTCTCTAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGGCTTACAGGTGTGAGCCACTGTGCCTGGCTGAAAGCTTGTATTTCTAATTTTCATAAAAACGTCCCTGCTGGGGCCGTCATGCTGCCTCTTACTTCCCACTCGGCATGTGTGTTTCAGGTTCCGGGCTGCTGCCCCTAACGCCTGCATCTTCTCCTGTGAACCTCCACCTCGAACCCCGCAGCAGACCCCAGAAAGCCCATCACCCCAGCTCCCA 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CTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAGGATTGTGCCATTGCACTCCAGCCTGAGGGACAAGAGCGAGACTTTGTATCAAAATAAATAAATAAATAAAACCCTGGTTTGCATCCTGGTTTCAGCACTTCCCACGAGACATGCACAGTCAAGCCCCTCCCGGAGCCTGTGTTCGGAGGTATGAGATGAGGCGACCACACTGCCCTCGCTACCAGCTGCAAAGATGGCCTGTACAGGTGACAGACGGTCTGACGGCCTCCACAGACTCTGAACCAGCACCACCAAGTCTCACTGCTGCCCTCTCTCCCTCCACACCAGCCAGCTTAGAATTTCTGGCTCTTTCTCCCCTGGGCCTGGCAAGGCCATCTTGGTTGGCCTTGCGGCAGTTTTCTGCAGCTGCGGGGAGGCAGGGTGGGGCAAGGACCCACATCCAAGGACCTCAGGCAAGCATCTTCTCCCCCAAATCTACGTCATCAGTCACAAAACACTAACCTGAAAAGACCTTGCAACAACCCAGTTTCATCAGCTCATTCTACAGATGAGGGAGTGAAGCTCAGAGAGGGAAAGTAGCTCGTCCAAGACCACACAGCAGGCCAGGGCGGGCAGGCAGGCAGTGGGCTCGTGGACAAGGATATGAATCAGGAGCCAGAGACACCAACATTCAAATCCTGCCCTGACACCCTGTAGCTCAGGGGCTTCGTGCAAATGTCTGGTCATTTGTAAGATGGGCCCCTCCATGTCCAGGCCAGCATTCTTCCCACTCTACCAGTGGGTTCCACACCGTGCTCATGGTGAAGGGAGTTCTGAGTTTTGGAGGAAGCAGCCAGGGGAGGGGGTGCTCAGGGAGCTCCCCGCAAGGCAGCCCCCTCAGCCAGACACAGGCGCTGCACCACAAAGCCTGCCCGCCGTGCTGCTGCCAAGGCCGCCAGTGCACAGAACATTCAGGGCCCCCCATCCCGGTCATCCCCAGAATCTCAGCAGAGCTGTGCAGACCCCTGGAACAGCACCTGACCAGGCCCGAAGTCCCCTCTCAGGGTAAGCTGAGTTTCCCCATCATGGGGATGCCCACTGACCTGGTTGGCAAAGAGCAGGTGGCACACAGTGTGGTCATCAGGGTCCTTCATGATGGCGCGGATCACCTGCAGCATCGGGGTGATGCCTGCAAAATAGCCGGCCGGGCCTCGCACGTGCTGAGCGAGGCCTGTTCACAGGCACCGCCCCGCCCAGGTGTACTGGGGTGGAGGGGCCAGGACCACTGGGCCTGGGCCCCTGACCTCTGGTAGCTCCCAGGCACTCAGAACCTGCGCCTCACCCACACCCCAACCCCACCCTTAACATGAGCCGCCGGACGCCTCAGTGGGGGGTTCCGTGTACCTGTCCCTCCCGCGATCATGCCCACAGACTTCACTGTCCTGATGATAGGGTTGGACTTTTTGTCAGGTCGGATGGCGAACTTCCCTGGGGAGAGAGAAGGGGTGAGGCCCGGCCATCAAACATGCCATGTGTGGTGGCTGGAGAGGCTGGAGAGGGGGCTGGAGAACCTGCCCCCACTGTGAGGTCCGAGGTAGAGGCAGCTGCCATTCTAACGCGAGCCATGAGGAAGGTGCAGGAGCAGTGGAGAGGCTGGGAACCCGGAGGCTCAGCTCTGTCCTCTTGCTTGCTTGTTTCAGATGCTGAGAAAGCCAAATAGAGGCTGGCAGTGGGTGAGACGTGGCCCCCAGGAGTGGCCTGTCTGCAACCCCTGTGCCAGCAACTTACCCCCTCTACAGCCAGGGAGACTCAGTTCCCAGAGAGGGACAGCTGGCCTGACGAGAGTCACCCATCCACACAGAGCCAGGGGCCTGCACCCTGCACCCAGCACGCCCAAGCTCTCCAATTCTCTGAGCCTGCCGTGTAACCAAGGGATTCCGACCCGAATCACCTTTGCCCTGGTAGACCAGCAGCCCACTGGGGCCCCGGAACTCAATGGTGTCTCCAATCTGCATGCTCTCCAGGTACTGAGGCATCTTCCCTCCAGCGGGAAACTTGGGATGGGTGTCCTTGAAGTAAACCTGCAAGACACCCCCGCAGCCCTCAGTCCCCAGCTCCAGGTCTCAGGGGCGAGCTCTTGCCCACAGTGGGAGACAAGTGCCTCTTCTGCAGCTTCTTCTGAGGCCCACACATGGCCTTCTCCCGTGGAGCCCCATCCACCCAGCCGTCAAATCCTACCTGTCCTGCACCCCGTCCTTCACCCCGTCCTCCCAGGAGTCAGCCTCCACCTGACATATCCGGGGAAAGCAAACCACCAGCCTCGTGTACAAGGCCGACCAACTCCAGGGCTGGATGCACTCACATTTCACCAACTGTCTCTGGGGCCCCCTCCCAACGGGAGACACTGAACCCGTCAGCAAAGTCAAGGCTCTGGGAGGCCCACTAAGCCACACTCCTCCTGGTGGACACTCAGTCCCTTCCGTTTTGTGCTGTCGCTAAAAACCTCCCTCACTCTTGGGACTACTTCCTGCCCTGCACTCTCTAGGATTACTGTCTTGGGAAAGAGAAGGGCCTCAATCCGACACCTACAAAGAAATGGGGAGACAGAGGAGGAGCGGCTCACCCTGCCCAAGGAGTCTGATGGATGGAGAAGGGGAAGGTGGCTGGGGGAGGGACAGCGTGTACACAGTGCCTCAGGGAGGGGAGCCTGTTGTGGCTTCAGCACAGAGGGTGGCTATGGGGTGTGGAGGCAGAGGGGAGTGGAGGGCCACGGACAGGCAGGCAGAGCACACTGTCCTGGGCCCTGGGTGCCAGGCCAGGACTCTAACCTTTATCAAGGACCAAGGGAGCCAGCCAGGTCTCCAAGCCAGGAGAGGCCTGGTCACCTGTGAGTTTTTCATCCTCAATTTGAATCCTCCTAATAGCTTCTCCACATTTGGCCAGAGAGACTTCAACGTGAACAGATGCTTGAGCCCTCATCACCTCCTCTGTGCTTCTGGACAAAGCCCCAAACCTTACTGGGGCCTCCAAGGCCCCGTCTGGCCCCACTGACCTCTCCCACCCCTTGCCCCAACCCTCCAGCCACTTCAATCCTTGAGCCTGCTGCTGACTTCAGGGCCTTTGCACCTGAAGCTCCTTTTCTTCCTTCTTCACCTGGTCAGTGCCTACTCAGCCCCAGATCTCACCTTCACTGTCACCTGCTAGGGAGCCACTCTCACCAGCCAACCCCACCCATCCCTGGTGGCCCTTCTGGAAGCTCGGTCGCAGGTACCTGTCCCCTGCAGGGAGCACTGGCTTCCCCATGACTATGTGTCCAGTGTCCGTCCTCCAGCCAAAGACGGGCTCCTGAGGCCAGGCCTGGGCGCCCCAGCAAGGAAGGAGCCCGGGCCAGGGCCCTTCCCACCCTTCAGATCCAGTGCCTGCCCCCAGACCTGGCAAGGTAAGGGCCTCAGCTACGGCCCAGTAAGGGGGCTCCAGGGGTACCTGAGGGTGCTGGGCTGGGGAGGCTATAGGGCTTTGGCCTTGATTGGGGAGGGTCTCCAACACCCCACATACCCACTGGTCTAGGCTGCTTCTCACCCTCTGTTCTGCAGGAAAGCTTGTATTTCTTTTTTTTTGACTGGCTCTCATTCTATTGCCCAGGCTGGAGTACAGTAGCATGATCTTGGCTTACTGCAACCTCTGCCTCCCAGCTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGCACCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTCGGCCAGGCTGGTCTCTAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGGCTTACAGGTGTGAGCCACTGTGCCTGGCTGAAAGCTTGTATTTCTAATTTTCATAAAAACGTCCCTGCTGGGGCCGTCATGCTGCCTCTTACTTCCCACTCGGCATGTGTGTTTCAGGTTCCGGGCTGCTGCCCCTAACGCCTGCATCTTCTCCTGTGAACCTCCACCTCGAACCCCGCAGCAGACCCCAGAAAGCCCATCACCCCAGCTCCCA 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Task1_train_28884 | Consider a variant on Chromosome 22 in gene CYB5R3 (cytochrome b5 reductase 3). Determine its clinical classification and disease relevance. | Pathogenic; METHEMOGLOBINEMIA, TYPE I | AAGGTGGCTGGGGGAGGGACAGCGTGTACACAGTGCCTCAGGGAGGGGAGCCTGTTGTGGCTTCAGCACAGAGGGTGGCTATGGGGTGTGGAGGCAGAGGGGAGTGGAGGGCCACGGACAGGCAGGCAGAGCACACTGTCCTGGGCCCTGGGTGCCAGGCCAGGACTCTAACCTTTATCAAGGACCAAGGGAGCCAGCCAGGTCTCCAAGCCAGGAGAGGCCTGGTCACCTGTGAGTTTTTCATCCTCAATTTGAATCCTCCTAATAGCTTCTCCACATTTGGCCAGAGAGACTTCAACGTGAACAGATGCTTGAGCCCTCATCACCTCCTCTGTGCTTCTGGACAAAGCCCCAAACCTTACTGGGGCCTCCAAGGCCCCGTCTGGCCCCACTGACCTCTCCCACCCCTTGCCCCAACCCTCCAGCCACTTCAATCCTTGAGCCTGCTGCTGACTTCAGGGCCTTTGCACCTGAAGCTCCTTTTCTTCCTTCTTCACCTGGTCAGTGCCTACTCAGCCCCAGATCTCACCTTCACTGTCACCTGCTAGGGAGCCACTCTCACCAGCCAACCCCACCCATCCCTGGTGGCCCTTCTGGAAGCTCGGTCGCAGGTACCTGTCCCCTGCAGGGAGCACTGGCTTCCCCATGACTATGTGTCCAGTGTCCGTCCTCCAGCCAAAGACGGGCTCCTGAGGCCAGGCCTGGGCGCCCCAGCAAGGAAGGAGCCCGGGCCAGGGCCCTTCCCACCCTTCAGATCCAGTGCCTGCCCCCAGACCTGGCAAGGTAAGGGCCTCAGCTACGGCCCAGTAAGGGGGCTCCAGGGGTACCTGAGGGTGCTGGGCTGGGGAGGCTATAGGGCTTTGGCCTTGATTGGGGAGGGTCTCCAACACCCCACATACCCACTGGTCTAGGCTGCTTCTCACCCTCTGTTCTGCAGGAAAGCTTGTATTTCTTTTTTTTTGACTGGCTCTCATTCTATTGCCCAGGCTGGAGTACAGTAGCATGATCTTGGCTTACTGCAACCTCTGCCTCCCAGCTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGCACCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTCGGCCAGGCTGGTCTCTAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGGCTTACAGGTGTGAGCCACTGTGCCTGGCTGAAAGCTTGTATTTCTAATTTTCATAAAAACGTCCCTGCTGGGGCCGTCATGCTGCCTCTTACTTCCCACTCGGCATGTGTGTTTCAGGTTCCGGGCTGCTGCCCCTAACGCCTGCATCTTCTCCTGTGAACCTCCACCTCGAACCCCGCAGCAGACCCCAGAAAGCCCATCACCCCAGCTCCCAGACAACACCACACGAGCCCCTCACATGTTTCCCTAGCAGGCCTGAGGGACATTTCTTAGGGAAACGGGTAAGAACAGGGCCTGCGTGTCACAGAGGCCCGGCCGCTGACCACGGTGGAGTGGCTGCCTCACCCCGCACACTCGGGACCCAACTCCCAGGGATCTCCCAGCGTGAGAGCAGGGACGGGACTGCGCCGTCACACCTCGCAGCAGGGGCGTCTGTACCGCCAGCCGGCCTTCCTGGAGCCTCTGCTGCAGGTACCTGTCCTTGTTTGAAGGCACTTGCCCTGAACCCTGGCCCCTGTTCTCTGCCAAGACCCCCTTCTTTGGCTTTTGTTGGTAAAGATGACGTGCTATTTACTCAGAAACCAGGCACAAGGGAGCACTGGGTCTTTGGAGTCCGGGCTGCGGGGGGACATGGACTCGAGAGGGGCTCTAGAAGCCACTGCCCCTGCAAGCCCCTGAGGAAGTGGGGCAGCCATGACCGAGGCTGGGCTGCACAGGGCAGGAGCGGGAGACTTCCCTGTCCAGGGGGTCCACATGGGCTGTTGCCATGGCCACCCACCCACACCCCCTCCACAGTCATGACCCAGAGGCTTCACCTTGATGACCAGGTCCACGAAGCCCTTGTCATCATCGCTGGAGATGGGTGTATAGGGCCGGACGACCAGGTTTCCATCAATTCGAGCCGAGAGGTAGATGTGCTGGCCTGCAGGACAGAACGGGGTCACTCTGGGCCAGAGATCATCCTGCGGGTGACCCCTGGGTCTTGTCAACCCACTCCCCTGCACCCCACCCGGCATTCAAAGCCTGGCCTGGCGTCAGCTCCCACGGCCCCCTCCCACCCCTCCCGGGGATTCCCCTCACGTCCCAGCTTCCTGCCTCCATGCCTTCACTCCTGCTGGTGCCACTGCCAGGGACTCTGGGCCTTCCCACTCTCATTCCAACAGACTCGCCCTCAAAGGCCCAGGGCAGCTGTCACCTCCTCCTGAAGGCTTCCCTGCTCTCCCTGGTGGAAATGTAAAGCTTCCATCTCTCTGATCTAGTGCCCCAGCAGCCTGCCGGGCTCCGAATGGGCCCAGCAGGGGCGTGACTCACCGACAGGGAGGCCCAGGATGTGCTGGGGTGACGGCAGGGCAAAGCGGAAGCGCCGGGTGTCATGGCTGATGATCTGGAGAGAGGCCCAAAGCTGCTGAACGGTCCCCAGGGCAGAGGCCTCCCAGGGCGGCTCCCAGGCCTCGGAGCCCCCATCCCATTCCTCCTTTGTGTCCCCACCCTTCCCCAGTGCCTGCTTGTCCTTGTAAGACGTGACGCCGACGCCAAGCACAGATGCACACACATGCACGCTGCGTGTGAGGTGCTGAGGCCAGGCGCACGCTGGGTGTGTCTGTCCTGCTGGCCTAGAGGGGCCACAAACAAGGTGGCCAGAACAGGGAATGAACCCAGGGTCCCAAAGGGAGGATGCCAGACAGGACGGGGAGGGAGGAATCCATCTCTGCCATCAGCTCAAGCAGTGGCCTGAAGGGGCAGGAAGAACTTGAGGGCTGGATGGGCAAACTGGGGCAGAGCTAGACAAGGCTGCACGTGCCCAGGCCTGCATCCCAAGAGAGGGGCTGCAGAAGCCACTGCACCTGAGAGCCCCTTGGGAAATGGGGCAGCCAGGACTGAGGTGGGCTTCACAGGGCAGAAAGTGGGAGCCTTCCCTGCCCAGGAACTCCAAGAGCCCAAAGCCAGGCTTCCACCCTGCACAGGGTGGGCACCCAGGGCATGGTCAGTGGCTGGGACAGTGGCAGAGGAGGAGGGGGGCTGGCTAAGAGCCAGATTGGGCCAGGGAAGGAGCTGAGACTAAAACCCCTGAGGTCTTGTTAAGTGGGTCTTACGCTCAGGCCAGGGACGATCACATAATCAGTTCCAGTCGGAGCTGGAACCAAACCCAGCGTCCTGAGGGTGCACTCCCTGTGGGGTCCCCAGTACCCAGCATGGCCAGGAGAGGGAGTGTGAAGAAGCCATGCGGAAGGTCGGCGCTGCAGAGGCGCTTACATCCAAACGTGGCAAAGTCCACATGTGGATGGTGTCATCACTTAGAGGGGGACAACAGACCTCTCCAACAGGGCAGGACATCACAGATGCCCATCTCGGCTCAGTACGAGAACTCTCCGACCTGAGCAGTGTTCCAGCACAGAGCAGCTGCCTCAAGGAGAGACCCGTCCCTACACGTGTGAGCAGAGGCAAATCGCAGGAAAGACGGTGCAAACGCCACTCAGGATCAGGTGTGCAGGGGGCCCACCAACCTCTCCCAGGCAGCCCAGGCCTCAAAGCTGCCTCTACCAGAAGCTTCTGCATTAGGGGCAAACAGAGCCCCAAGGCCTTCTGGAAGTGGATTCCAGGACTATCAACTGGTCCTAAGGGTCAAGGTCAGACACCCATGTACCAGAAAATATTTGGAGGAAGAATAGAAATGAGATGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGAATCATCTGAGGTCGGAAGTTCGAGACCAGTCTGAACAACATGGAGAAATCCCGTCTCTACTAAAACTACAATGTTAGCCAGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGG 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AAGGTGGCTGGGGGAGGGACAGCGTGTACACAGTGCCTCAGGGAGGGGAGCCTGTTGTGGCTTCAGCACAGAGGGTGGCTATGGGGTGTGGAGGCAGAGGGGAGTGGAGGGCCACGGACAGGCAGGCAGAGCACACTGTCCTGGGCCCTGGGTGCCAGGCCAGGACTCTAACCTTTATCAAGGACCAAGGGAGCCAGCCAGGTCTCCAAGCCAGGAGAGGCCTGGTCACCTGTGAGTTTTTCATCCTCAATTTGAATCCTCCTAATAGCTTCTCCACATTTGGCCAGAGAGACTTCAACGTGAACAGATGCTTGAGCCCTCATCACCTCCTCTGTGCTTCTGGACAAAGCCCCAAACCTTACTGGGGCCTCCAAGGCCCCGTCTGGCCCCACTGACCTCTCCCACCCCTTGCCCCAACCCTCCAGCCACTTCAATCCTTGAGCCTGCTGCTGACTTCAGGGCCTTTGCACCTGAAGCTCCTTTTCTTCCTTCTTCACCTGGTCAGTGCCTACTCAGCCCCAGATCTCACCTTCACTGTCACCTGCTAGGGAGCCACTCTCACCAGCCAACCCCACCCATCCCTGGTGGCCCTTCTGGAAGCTCGGTCGCAGGTACCTGTCCCCTGCAGGGAGCACTGGCTTCCCCATGACTATGTGTCCAGTGTCCGTCCTCCAGCCAAAGACGGGCTCCTGAGGCCAGGCCTGGGCGCCCCAGCAAGGAAGGAGCCCGGGCCAGGGCCCTTCCCACCCTTCAGATCCAGTGCCTGCCCCCAGACCTGGCAAGGTAAGGGCCTCAGCTACGGCCCAGTAAGGGGGCTCCAGGGGTACCTGAGGGTGCTGGGCTGGGGAGGCTATAGGGCTTTGGCCTTGATTGGGGAGGGTCTCCAACACCCCACATACCCACTGGTCTAGGCTGCTTCTCACCCTCTGTTCTGCAGGAAAGCTTGTATTTCTTTTTTTTTGACTGGCTCTCATTCTATTGCCCAGGCTGGAGTACAGTAGCATGATCTTGGCTTACTGCAACCTCTGCCTCCCAGCTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGCACCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTCGGCCAGGCTGGTCTCTAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGGCTTACAGGTGTGAGCCACTGTGCCTGGCTGAAAGCTTGTATTTCTAATTTTCATAAAAACGTCCCTGCTGGGGCCGTCATGCTGCCTCTTACTTCCCACTCGGCATGTGTGTTTCAGGTTCCGGGCTGCTGCCCCTAACGCCTGCATCTTCTCCTGTGAACCTCCACCTCGAACCCCGCAGCAGACCCCAGAAAGCCCATCACCCCAGCTCCCAGACAACACCACACGAGCCCCTCACATGTTTCCCTAGCAGGCCTGAGGGACATTTCTTAGGGAAACGGGTAAGAACAGGGCCTGCGTGTCACAGAGGCCCGGCCGCTGACCACGGTGGAGTGGCTGCCTCACCCCGCACACTCGGGACCCAACTCCCAGGGATCTCCCAGCGTGAGAGCAGGGACGGGACTGCGCCGTCACACCTCGCAGCAGGGGCGTCTGTACCGCCAGCCGGCCTTCCTGGAGCCTCTGCTGCAGGTACCTGTCCTTGTTTGAAGGCACTTGCCCTGAACCCTGGCCCCTGTTCTCTGCCAAGACCCCCTTCTTTGGCTTTTGTTGGTAAAGATGACGTGCTATTTACTCAGAAACCAGGCACAAGGGAGCACTGGGTCTTTGGAGTCCGGGCTGCGGGGGGACATGGACTCGAGAGGGGCTCTAGAAGCCACTGCCCCTGCAAGCCCCTGAGGAAGTGGGGCAGCCATGACCGAGGCTGGGCTGCACAGGGCAGGAGCGGGAGACTTCCCTGTCCAGGGGGTCCACATGGGCTGTTGCCATGGCCACCCACCCACACCCCCTCCACAGTCATGACCCAGAGGCTTCACCTTGATGACCAGGTCCACGAAGCACTTGTCATCATCGCTGGAGATGGGTGTATAGGGCCGGACGACCAGGTTTCCATCAATTCGAGCCGAGAGGTAGATGTGCTGGCCTGCAGGACAGAACGGGGTCACTCTGGGCCAGAGATCATCCTGCGGGTGACCCCTGGGTCTTGTCAACCCACTCCCCTGCACCCCACCCGGCATTCAAAGCCTGGCCTGGCGTCAGCTCCCACGGCCCCCTCCCACCCCTCCCGGGGATTCCCCTCACGTCCCAGCTTCCTGCCTCCATGCCTTCACTCCTGCTGGTGCCACTGCCAGGGACTCTGGGCCTTCCCACTCTCATTCCAACAGACTCGCCCTCAAAGGCCCAGGGCAGCTGTCACCTCCTCCTGAAGGCTTCCCTGCTCTCCCTGGTGGAAATGTAAAGCTTCCATCTCTCTGATCTAGTGCCCCAGCAGCCTGCCGGGCTCCGAATGGGCCCAGCAGGGGCGTGACTCACCGACAGGGAGGCCCAGGATGTGCTGGGGTGACGGCAGGGCAAAGCGGAAGCGCCGGGTGTCATGGCTGATGATCTGGAGAGAGGCCCAAAGCTGCTGAACGGTCCCCAGGGCAGAGGCCTCCCAGGGCGGCTCCCAGGCCTCGGAGCCCCCATCCCATTCCTCCTTTGTGTCCCCACCCTTCCCCAGTGCCTGCTTGTCCTTGTAAGACGTGACGCCGACGCCAAGCACAGATGCACACACATGCACGCTGCGTGTGAGGTGCTGAGGCCAGGCGCACGCTGGGTGTGTCTGTCCTGCTGGCCTAGAGGGGCCACAAACAAGGTGGCCAGAACAGGGAATGAACCCAGGGTCCCAAAGGGAGGATGCCAGACAGGACGGGGAGGGAGGAATCCATCTCTGCCATCAGCTCAAGCAGTGGCCTGAAGGGGCAGGAAGAACTTGAGGGCTGGATGGGCAAACTGGGGCAGAGCTAGACAAGGCTGCACGTGCCCAGGCCTGCATCCCAAGAGAGGGGCTGCAGAAGCCACTGCACCTGAGAGCCCCTTGGGAAATGGGGCAGCCAGGACTGAGGTGGGCTTCACAGGGCAGAAAGTGGGAGCCTTCCCTGCCCAGGAACTCCAAGAGCCCAAAGCCAGGCTTCCACCCTGCACAGGGTGGGCACCCAGGGCATGGTCAGTGGCTGGGACAGTGGCAGAGGAGGAGGGGGGCTGGCTAAGAGCCAGATTGGGCCAGGGAAGGAGCTGAGACTAAAACCCCTGAGGTCTTGTTAAGTGGGTCTTACGCTCAGGCCAGGGACGATCACATAATCAGTTCCAGTCGGAGCTGGAACCAAACCCAGCGTCCTGAGGGTGCACTCCCTGTGGGGTCCCCAGTACCCAGCATGGCCAGGAGAGGGAGTGTGAAGAAGCCATGCGGAAGGTCGGCGCTGCAGAGGCGCTTACATCCAAACGTGGCAAAGTCCACATGTGGATGGTGTCATCACTTAGAGGGGGACAACAGACCTCTCCAACAGGGCAGGACATCACAGATGCCCATCTCGGCTCAGTACGAGAACTCTCCGACCTGAGCAGTGTTCCAGCACAGAGCAGCTGCCTCAAGGAGAGACCCGTCCCTACACGTGTGAGCAGAGGCAAATCGCAGGAAAGACGGTGCAAACGCCACTCAGGATCAGGTGTGCAGGGGGCCCACCAACCTCTCCCAGGCAGCCCAGGCCTCAAAGCTGCCTCTACCAGAAGCTTCTGCATTAGGGGCAAACAGAGCCCCAAGGCCTTCTGGAAGTGGATTCCAGGACTATCAACTGGTCCTAAGGGTCAAGGTCAGACACCCATGTACCAGAAAATATTTGGAGGAAGAATAGAAATGAGATGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGAATCATCTGAGGTCGGAAGTTCGAGACCAGTCTGAACAACATGGAGAAATCCCGTCTCTACTAAAACTACAATGTTAGCCAGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGG 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Task1_train_28885 | This variant impacts the gene CYB5R3 (cytochrome b5 reductase 3) on Chromosome 22. Is the change likely to result in a pathogenic outcome? | Pathogenic; METHEMOGLOBINEMIA, TYPE I | TTTCTTCCTTCTTCACCTGGTCAGTGCCTACTCAGCCCCAGATCTCACCTTCACTGTCACCTGCTAGGGAGCCACTCTCACCAGCCAACCCCACCCATCCCTGGTGGCCCTTCTGGAAGCTCGGTCGCAGGTACCTGTCCCCTGCAGGGAGCACTGGCTTCCCCATGACTATGTGTCCAGTGTCCGTCCTCCAGCCAAAGACGGGCTCCTGAGGCCAGGCCTGGGCGCCCCAGCAAGGAAGGAGCCCGGGCCAGGGCCCTTCCCACCCTTCAGATCCAGTGCCTGCCCCCAGACCTGGCAAGGTAAGGGCCTCAGCTACGGCCCAGTAAGGGGGCTCCAGGGGTACCTGAGGGTGCTGGGCTGGGGAGGCTATAGGGCTTTGGCCTTGATTGGGGAGGGTCTCCAACACCCCACATACCCACTGGTCTAGGCTGCTTCTCACCCTCTGTTCTGCAGGAAAGCTTGTATTTCTTTTTTTTTGACTGGCTCTCATTCTATTGCCCAGGCTGGAGTACAGTAGCATGATCTTGGCTTACTGCAACCTCTGCCTCCCAGCTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGCACCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTCGGCCAGGCTGGTCTCTAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGGCTTACAGGTGTGAGCCACTGTGCCTGGCTGAAAGCTTGTATTTCTAATTTTCATAAAAACGTCCCTGCTGGGGCCGTCATGCTGCCTCTTACTTCCCACTCGGCATGTGTGTTTCAGGTTCCGGGCTGCTGCCCCTAACGCCTGCATCTTCTCCTGTGAACCTCCACCTCGAACCCCGCAGCAGACCCCAGAAAGCCCATCACCCCAGCTCCCAGACAACACCACACGAGCCCCTCACATGTTTCCCTAGCAGGCCTGAGGGACATTTCTTAGGGAAACGGGTAAGAACAGGGCCTGCGTGTCACAGAGGCCCGGCCGCTGACCACGGTGGAGTGGCTGCCTCACCCCGCACACTCGGGACCCAACTCCCAGGGATCTCCCAGCGTGAGAGCAGGGACGGGACTGCGCCGTCACACCTCGCAGCAGGGGCGTCTGTACCGCCAGCCGGCCTTCCTGGAGCCTCTGCTGCAGGTACCTGTCCTTGTTTGAAGGCACTTGCCCTGAACCCTGGCCCCTGTTCTCTGCCAAGACCCCCTTCTTTGGCTTTTGTTGGTAAAGATGACGTGCTATTTACTCAGAAACCAGGCACAAGGGAGCACTGGGTCTTTGGAGTCCGGGCTGCGGGGGGACATGGACTCGAGAGGGGCTCTAGAAGCCACTGCCCCTGCAAGCCCCTGAGGAAGTGGGGCAGCCATGACCGAGGCTGGGCTGCACAGGGCAGGAGCGGGAGACTTCCCTGTCCAGGGGGTCCACATGGGCTGTTGCCATGGCCACCCACCCACACCCCCTCCACAGTCATGACCCAGAGGCTTCACCTTGATGACCAGGTCCACGAAGCCCTTGTCATCATCGCTGGAGATGGGTGTATAGGGCCGGACGACCAGGTTTCCATCAATTCGAGCCGAGAGGTAGATGTGCTGGCCTGCAGGACAGAACGGGGTCACTCTGGGCCAGAGATCATCCTGCGGGTGACCCCTGGGTCTTGTCAACCCACTCCCCTGCACCCCACCCGGCATTCAAAGCCTGGCCTGGCGTCAGCTCCCACGGCCCCCTCCCACCCCTCCCGGGGATTCCCCTCACGTCCCAGCTTCCTGCCTCCATGCCTTCACTCCTGCTGGTGCCACTGCCAGGGACTCTGGGCCTTCCCACTCTCATTCCAACAGACTCGCCCTCAAAGGCCCAGGGCAGCTGTCACCTCCTCCTGAAGGCTTCCCTGCTCTCCCTGGTGGAAATGTAAAGCTTCCATCTCTCTGATCTAGTGCCCCAGCAGCCTGCCGGGCTCCGAATGGGCCCAGCAGGGGCGTGACTCACCGACAGGGAGGCCCAGGATGTGCTGGGGTGACGGCAGGGCAAAGCGGAAGCGCCGGGTGTCATGGCTGATGATCTGGAGAGAGGCCCAAAGCTGCTGAACGGTCCCCAGGGCAGAGGCCTCCCAGGGCGGCTCCCAGGCCTCGGAGCCCCCATCCCATTCCTCCTTTGTGTCCCCACCCTTCCCCAGTGCCTGCTTGTCCTTGTAAGACGTGACGCCGACGCCAAGCACAGATGCACACACATGCACGCTGCGTGTGAGGTGCTGAGGCCAGGCGCACGCTGGGTGTGTCTGTCCTGCTGGCCTAGAGGGGCCACAAACAAGGTGGCCAGAACAGGGAATGAACCCAGGGTCCCAAAGGGAGGATGCCAGACAGGACGGGGAGGGAGGAATCCATCTCTGCCATCAGCTCAAGCAGTGGCCTGAAGGGGCAGGAAGAACTTGAGGGCTGGATGGGCAAACTGGGGCAGAGCTAGACAAGGCTGCACGTGCCCAGGCCTGCATCCCAAGAGAGGGGCTGCAGAAGCCACTGCACCTGAGAGCCCCTTGGGAAATGGGGCAGCCAGGACTGAGGTGGGCTTCACAGGGCAGAAAGTGGGAGCCTTCCCTGCCCAGGAACTCCAAGAGCCCAAAGCCAGGCTTCCACCCTGCACAGGGTGGGCACCCAGGGCATGGTCAGTGGCTGGGACAGTGGCAGAGGAGGAGGGGGGCTGGCTAAGAGCCAGATTGGGCCAGGGAAGGAGCTGAGACTAAAACCCCTGAGGTCTTGTTAAGTGGGTCTTACGCTCAGGCCAGGGACGATCACATAATCAGTTCCAGTCGGAGCTGGAACCAAACCCAGCGTCCTGAGGGTGCACTCCCTGTGGGGTCCCCAGTACCCAGCATGGCCAGGAGAGGGAGTGTGAAGAAGCCATGCGGAAGGTCGGCGCTGCAGAGGCGCTTACATCCAAACGTGGCAAAGTCCACATGTGGATGGTGTCATCACTTAGAGGGGGACAACAGACCTCTCCAACAGGGCAGGACATCACAGATGCCCATCTCGGCTCAGTACGAGAACTCTCCGACCTGAGCAGTGTTCCAGCACAGAGCAGCTGCCTCAAGGAGAGACCCGTCCCTACACGTGTGAGCAGAGGCAAATCGCAGGAAAGACGGTGCAAACGCCACTCAGGATCAGGTGTGCAGGGGGCCCACCAACCTCTCCCAGGCAGCCCAGGCCTCAAAGCTGCCTCTACCAGAAGCTTCTGCATTAGGGGCAAACAGAGCCCCAAGGCCTTCTGGAAGTGGATTCCAGGACTATCAACTGGTCCTAAGGGTCAAGGTCAGACACCCATGTACCAGAAAATATTTGGAGGAAGAATAGAAATGAGATGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGAATCATCTGAGGTCGGAAGTTCGAGACCAGTCTGAACAACATGGAGAAATCCCGTCTCTACTAAAACTACAATGTTAGCCAGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAAGGTTGCAGTGAGCTGAGATCGCACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAAAAAAGAATAGAAATGAGGACAAGAGATGAACAATTATGGTGCTGGCCAACCTCTAGTAGGGCAGCAGGGTGGGGCAAAGCACAGAGCACCCAGAGCAGGCCCGCTGCGGACCCCGCAAAGCCACCATGGGCACAATGAGGGGGCAAAGCTGCAATCCTAGGACATCTGCCACATGCTCCCTTGTGTAACATCCCTATGATGAAATACTAAAAGGATCCATGTTGTATGGCTGGCTACAAAACCAGGTTATCAAAAAAAGAAACTGAGTGTGCACACACCCGCACCTCCACACACCCGTGTATGAACGTGATACCCACATAGGGTCTGGCAGGCTCACGCTGAGCTGTGACCTGGGCCCTCTGCACGGGGCCCTGGGATGCGGCAATGGGGCAGGGGTGGAGGTC 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TTTCTTCCTTCTTCACCTGGTCAGTGCCTACTCAGCCCCAGATCTCACCTTCACTGTCACCTGCTAGGGAGCCACTCTCACCAGCCAACCCCACCCATCCCTGGTGGCCCTTCTGGAAGCTCGGTCGCAGGTACCTGTCCCCTGCAGGGAGCACTGGCTTCCCCATGACTATGTGTCCAGTGTCCGTCCTCCAGCCAAAGACGGGCTCCTGAGGCCAGGCCTGGGCGCCCCAGCAAGGAAGGAGCCCGGGCCAGGGCCCTTCCCACCCTTCAGATCCAGTGCCTGCCCCCAGACCTGGCAAGGTAAGGGCCTCAGCTACGGCCCAGTAAGGGGGCTCCAGGGGTACCTGAGGGTGCTGGGCTGGGGAGGCTATAGGGCTTTGGCCTTGATTGGGGAGGGTCTCCAACACCCCACATACCCACTGGTCTAGGCTGCTTCTCACCCTCTGTTCTGCAGGAAAGCTTGTATTTCTTTTTTTTTGACTGGCTCTCATTCTATTGCCCAGGCTGGAGTACAGTAGCATGATCTTGGCTTACTGCAACCTCTGCCTCCCAGCTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGCACCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTCGGCCAGGCTGGTCTCTAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGGCTTACAGGTGTGAGCCACTGTGCCTGGCTGAAAGCTTGTATTTCTAATTTTCATAAAAACGTCCCTGCTGGGGCCGTCATGCTGCCTCTTACTTCCCACTCGGCATGTGTGTTTCAGGTTCCGGGCTGCTGCCCCTAACGCCTGCATCTTCTCCTGTGAACCTCCACCTCGAACCCCGCAGCAGACCCCAGAAAGCCCATCACCCCAGCTCCCAGACAACACCACACGAGCCCCTCACATGTTTCCCTAGCAGGCCTGAGGGACATTTCTTAGGGAAACGGGTAAGAACAGGGCCTGCGTGTCACAGAGGCCCGGCCGCTGACCACGGTGGAGTGGCTGCCTCACCCCGCACACTCGGGACCCAACTCCCAGGGATCTCCCAGCGTGAGAGCAGGGACGGGACTGCGCCGTCACACCTCGCAGCAGGGGCGTCTGTACCGCCAGCCGGCCTTCCTGGAGCCTCTGCTGCAGGTACCTGTCCTTGTTTGAAGGCACTTGCCCTGAACCCTGGCCCCTGTTCTCTGCCAAGACCCCCTTCTTTGGCTTTTGTTGGTAAAGATGACGTGCTATTTACTCAGAAACCAGGCACAAGGGAGCACTGGGTCTTTGGAGTCCGGGCTGCGGGGGGACATGGACTCGAGAGGGGCTCTAGAAGCCACTGCCCCTGCAAGCCCCTGAGGAAGTGGGGCAGCCATGACCGAGGCTGGGCTGCACAGGGCAGGAGCGGGAGACTTCCCTGTCCAGGGGGTCCACATGGGCTGTTGCCATGGCCACCCACCCACACCCCCTCCACAGTCATGACCCAGAGGCTTCACCTTGATGACCAGGTCCACGAAGCCCTTGTCATCATCGCTGGAGATGGGTGTATAGGGCCGGACGACCAGGTTTCCATCAATTCGAGCCGAGAGGTAGATGTGCTGGCCTGCAGGACAGAACGGGGTCACTCTGGGCCAGAGATCATCCTGCGGGTGACCCCTGGGTCTTGTCAACCCACTCCCCTGCACCCCACCCGGCATTCAAAGCCTGGCCTGGCGTCAGCTCCCACGGCCCCCTCCCACCCCTCCCGGGGATTCCCCTCACGTCCCAGCTTCCTGCCTCCATGCCTTCACTCCTGCTGGTGCCACTGCCAGGGACTCTGGGCCTTCCCACTCTCATTCCAACAGACTCGCCCTCAAAGGCCCAGGGCAGCTGTCACCTCCTCCTGAAGGCTTCCCTGCTCTCCCTGGTGGAAATGTAAAGCTTCCATCTCTCTGATCTAGTGCCCCAGCAGCCTGCCGGGCTCCGAATGGGCCCAGCAGGGGCGTGACTCACCGACAGGGGGGCCCAGGATGTGCTGGGGTGACGGCAGGGCAAAGCGGAAGCGCCGGGTGTCATGGCTGATGATCTGGAGAGAGGCCCAAAGCTGCTGAACGGTCCCCAGGGCAGAGGCCTCCCAGGGCGGCTCCCAGGCCTCGGAGCCCCCATCCCATTCCTCCTTTGTGTCCCCACCCTTCCCCAGTGCCTGCTTGTCCTTGTAAGACGTGACGCCGACGCCAAGCACAGATGCACACACATGCACGCTGCGTGTGAGGTGCTGAGGCCAGGCGCACGCTGGGTGTGTCTGTCCTGCTGGCCTAGAGGGGCCACAAACAAGGTGGCCAGAACAGGGAATGAACCCAGGGTCCCAAAGGGAGGATGCCAGACAGGACGGGGAGGGAGGAATCCATCTCTGCCATCAGCTCAAGCAGTGGCCTGAAGGGGCAGGAAGAACTTGAGGGCTGGATGGGCAAACTGGGGCAGAGCTAGACAAGGCTGCACGTGCCCAGGCCTGCATCCCAAGAGAGGGGCTGCAGAAGCCACTGCACCTGAGAGCCCCTTGGGAAATGGGGCAGCCAGGACTGAGGTGGGCTTCACAGGGCAGAAAGTGGGAGCCTTCCCTGCCCAGGAACTCCAAGAGCCCAAAGCCAGGCTTCCACCCTGCACAGGGTGGGCACCCAGGGCATGGTCAGTGGCTGGGACAGTGGCAGAGGAGGAGGGGGGCTGGCTAAGAGCCAGATTGGGCCAGGGAAGGAGCTGAGACTAAAACCCCTGAGGTCTTGTTAAGTGGGTCTTACGCTCAGGCCAGGGACGATCACATAATCAGTTCCAGTCGGAGCTGGAACCAAACCCAGCGTCCTGAGGGTGCACTCCCTGTGGGGTCCCCAGTACCCAGCATGGCCAGGAGAGGGAGTGTGAAGAAGCCATGCGGAAGGTCGGCGCTGCAGAGGCGCTTACATCCAAACGTGGCAAAGTCCACATGTGGATGGTGTCATCACTTAGAGGGGGACAACAGACCTCTCCAACAGGGCAGGACATCACAGATGCCCATCTCGGCTCAGTACGAGAACTCTCCGACCTGAGCAGTGTTCCAGCACAGAGCAGCTGCCTCAAGGAGAGACCCGTCCCTACACGTGTGAGCAGAGGCAAATCGCAGGAAAGACGGTGCAAACGCCACTCAGGATCAGGTGTGCAGGGGGCCCACCAACCTCTCCCAGGCAGCCCAGGCCTCAAAGCTGCCTCTACCAGAAGCTTCTGCATTAGGGGCAAACAGAGCCCCAAGGCCTTCTGGAAGTGGATTCCAGGACTATCAACTGGTCCTAAGGGTCAAGGTCAGACACCCATGTACCAGAAAATATTTGGAGGAAGAATAGAAATGAGATGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGAATCATCTGAGGTCGGAAGTTCGAGACCAGTCTGAACAACATGGAGAAATCCCGTCTCTACTAAAACTACAATGTTAGCCAGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAAGGTTGCAGTGAGCTGAGATCGCACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAAAAAAGAATAGAAATGAGGACAAGAGATGAACAATTATGGTGCTGGCCAACCTCTAGTAGGGCAGCAGGGTGGGGCAAAGCACAGAGCACCCAGAGCAGGCCCGCTGCGGACCCCGCAAAGCCACCATGGGCACAATGAGGGGGCAAAGCTGCAATCCTAGGACATCTGCCACATGCTCCCTTGTGTAACATCCCTATGATGAAATACTAAAAGGATCCATGTTGTATGGCTGGCTACAAAACCAGGTTATCAAAAAAAGAAACTGAGTGTGCACACACCCGCACCTCCACACACCCGTGTATGAACGTGATACCCACATAGGGTCTGGCAGGCTCACGCTGAGCTGTGACCTGGGCCCTCTGCACGGGGCCCTGGGATGCGGCAATGGGGCAGGGGTGGAGGTC 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Task1_train_28886 | Here’s a variant in CYB5R3 (cytochrome b5 reductase 3) located on Chromosome 22. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; METHEMOGLOBINEMIA, TYPE I | TACTCAGCCCCAGATCTCACCTTCACTGTCACCTGCTAGGGAGCCACTCTCACCAGCCAACCCCACCCATCCCTGGTGGCCCTTCTGGAAGCTCGGTCGCAGGTACCTGTCCCCTGCAGGGAGCACTGGCTTCCCCATGACTATGTGTCCAGTGTCCGTCCTCCAGCCAAAGACGGGCTCCTGAGGCCAGGCCTGGGCGCCCCAGCAAGGAAGGAGCCCGGGCCAGGGCCCTTCCCACCCTTCAGATCCAGTGCCTGCCCCCAGACCTGGCAAGGTAAGGGCCTCAGCTACGGCCCAGTAAGGGGGCTCCAGGGGTACCTGAGGGTGCTGGGCTGGGGAGGCTATAGGGCTTTGGCCTTGATTGGGGAGGGTCTCCAACACCCCACATACCCACTGGTCTAGGCTGCTTCTCACCCTCTGTTCTGCAGGAAAGCTTGTATTTCTTTTTTTTTGACTGGCTCTCATTCTATTGCCCAGGCTGGAGTACAGTAGCATGATCTTGGCTTACTGCAACCTCTGCCTCCCAGCTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGCACCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTCGGCCAGGCTGGTCTCTAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGGCTTACAGGTGTGAGCCACTGTGCCTGGCTGAAAGCTTGTATTTCTAATTTTCATAAAAACGTCCCTGCTGGGGCCGTCATGCTGCCTCTTACTTCCCACTCGGCATGTGTGTTTCAGGTTCCGGGCTGCTGCCCCTAACGCCTGCATCTTCTCCTGTGAACCTCCACCTCGAACCCCGCAGCAGACCCCAGAAAGCCCATCACCCCAGCTCCCAGACAACACCACACGAGCCCCTCACATGTTTCCCTAGCAGGCCTGAGGGACATTTCTTAGGGAAACGGGTAAGAACAGGGCCTGCGTGTCACAGAGGCCCGGCCGCTGACCACGGTGGAGTGGCTGCCTCACCCCGCACACTCGGGACCCAACTCCCAGGGATCTCCCAGCGTGAGAGCAGGGACGGGACTGCGCCGTCACACCTCGCAGCAGGGGCGTCTGTACCGCCAGCCGGCCTTCCTGGAGCCTCTGCTGCAGGTACCTGTCCTTGTTTGAAGGCACTTGCCCTGAACCCTGGCCCCTGTTCTCTGCCAAGACCCCCTTCTTTGGCTTTTGTTGGTAAAGATGACGTGCTATTTACTCAGAAACCAGGCACAAGGGAGCACTGGGTCTTTGGAGTCCGGGCTGCGGGGGGACATGGACTCGAGAGGGGCTCTAGAAGCCACTGCCCCTGCAAGCCCCTGAGGAAGTGGGGCAGCCATGACCGAGGCTGGGCTGCACAGGGCAGGAGCGGGAGACTTCCCTGTCCAGGGGGTCCACATGGGCTGTTGCCATGGCCACCCACCCACACCCCCTCCACAGTCATGACCCAGAGGCTTCACCTTGATGACCAGGTCCACGAAGCCCTTGTCATCATCGCTGGAGATGGGTGTATAGGGCCGGACGACCAGGTTTCCATCAATTCGAGCCGAGAGGTAGATGTGCTGGCCTGCAGGACAGAACGGGGTCACTCTGGGCCAGAGATCATCCTGCGGGTGACCCCTGGGTCTTGTCAACCCACTCCCCTGCACCCCACCCGGCATTCAAAGCCTGGCCTGGCGTCAGCTCCCACGGCCCCCTCCCACCCCTCCCGGGGATTCCCCTCACGTCCCAGCTTCCTGCCTCCATGCCTTCACTCCTGCTGGTGCCACTGCCAGGGACTCTGGGCCTTCCCACTCTCATTCCAACAGACTCGCCCTCAAAGGCCCAGGGCAGCTGTCACCTCCTCCTGAAGGCTTCCCTGCTCTCCCTGGTGGAAATGTAAAGCTTCCATCTCTCTGATCTAGTGCCCCAGCAGCCTGCCGGGCTCCGAATGGGCCCAGCAGGGGCGTGACTCACCGACAGGGAGGCCCAGGATGTGCTGGGGTGACGGCAGGGCAAAGCGGAAGCGCCGGGTGTCATGGCTGATGATCTGGAGAGAGGCCCAAAGCTGCTGAACGGTCCCCAGGGCAGAGGCCTCCCAGGGCGGCTCCCAGGCCTCGGAGCCCCCATCCCATTCCTCCTTTGTGTCCCCACCCTTCCCCAGTGCCTGCTTGTCCTTGTAAGACGTGACGCCGACGCCAAGCACAGATGCACACACATGCACGCTGCGTGTGAGGTGCTGAGGCCAGGCGCACGCTGGGTGTGTCTGTCCTGCTGGCCTAGAGGGGCCACAAACAAGGTGGCCAGAACAGGGAATGAACCCAGGGTCCCAAAGGGAGGATGCCAGACAGGACGGGGAGGGAGGAATCCATCTCTGCCATCAGCTCAAGCAGTGGCCTGAAGGGGCAGGAAGAACTTGAGGGCTGGATGGGCAAACTGGGGCAGAGCTAGACAAGGCTGCACGTGCCCAGGCCTGCATCCCAAGAGAGGGGCTGCAGAAGCCACTGCACCTGAGAGCCCCTTGGGAAATGGGGCAGCCAGGACTGAGGTGGGCTTCACAGGGCAGAAAGTGGGAGCCTTCCCTGCCCAGGAACTCCAAGAGCCCAAAGCCAGGCTTCCACCCTGCACAGGGTGGGCACCCAGGGCATGGTCAGTGGCTGGGACAGTGGCAGAGGAGGAGGGGGGCTGGCTAAGAGCCAGATTGGGCCAGGGAAGGAGCTGAGACTAAAACCCCTGAGGTCTTGTTAAGTGGGTCTTACGCTCAGGCCAGGGACGATCACATAATCAGTTCCAGTCGGAGCTGGAACCAAACCCAGCGTCCTGAGGGTGCACTCCCTGTGGGGTCCCCAGTACCCAGCATGGCCAGGAGAGGGAGTGTGAAGAAGCCATGCGGAAGGTCGGCGCTGCAGAGGCGCTTACATCCAAACGTGGCAAAGTCCACATGTGGATGGTGTCATCACTTAGAGGGGGACAACAGACCTCTCCAACAGGGCAGGACATCACAGATGCCCATCTCGGCTCAGTACGAGAACTCTCCGACCTGAGCAGTGTTCCAGCACAGAGCAGCTGCCTCAAGGAGAGACCCGTCCCTACACGTGTGAGCAGAGGCAAATCGCAGGAAAGACGGTGCAAACGCCACTCAGGATCAGGTGTGCAGGGGGCCCACCAACCTCTCCCAGGCAGCCCAGGCCTCAAAGCTGCCTCTACCAGAAGCTTCTGCATTAGGGGCAAACAGAGCCCCAAGGCCTTCTGGAAGTGGATTCCAGGACTATCAACTGGTCCTAAGGGTCAAGGTCAGACACCCATGTACCAGAAAATATTTGGAGGAAGAATAGAAATGAGATGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGAATCATCTGAGGTCGGAAGTTCGAGACCAGTCTGAACAACATGGAGAAATCCCGTCTCTACTAAAACTACAATGTTAGCCAGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAAGGTTGCAGTGAGCTGAGATCGCACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAAAAAAGAATAGAAATGAGGACAAGAGATGAACAATTATGGTGCTGGCCAACCTCTAGTAGGGCAGCAGGGTGGGGCAAAGCACAGAGCACCCAGAGCAGGCCCGCTGCGGACCCCGCAAAGCCACCATGGGCACAATGAGGGGGCAAAGCTGCAATCCTAGGACATCTGCCACATGCTCCCTTGTGTAACATCCCTATGATGAAATACTAAAAGGATCCATGTTGTATGGCTGGCTACAAAACCAGGTTATCAAAAAAAGAAACTGAGTGTGCACACACCCGCACCTCCACACACCCGTGTATGAACGTGATACCCACATAGGGTCTGGCAGGCTCACGCTGAGCTGTGACCTGGGCCCTCTGCACGGGGCCCTGGGATGCGGCAATGGGGCAGGGGTGGAGGTCATACCTTACAGAGTTTTTGCTGTGAGCA 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TACTCAGCCCCAGATCTCACCTTCACTGTCACCTGCTAGGGAGCCACTCTCACCAGCCAACCCCACCCATCCCTGGTGGCCCTTCTGGAAGCTCGGTCGCAGGTACCTGTCCCCTGCAGGGAGCACTGGCTTCCCCATGACTATGTGTCCAGTGTCCGTCCTCCAGCCAAAGACGGGCTCCTGAGGCCAGGCCTGGGCGCCCCAGCAAGGAAGGAGCCCGGGCCAGGGCCCTTCCCACCCTTCAGATCCAGTGCCTGCCCCCAGACCTGGCAAGGTAAGGGCCTCAGCTACGGCCCAGTAAGGGGGCTCCAGGGGTACCTGAGGGTGCTGGGCTGGGGAGGCTATAGGGCTTTGGCCTTGATTGGGGAGGGTCTCCAACACCCCACATACCCACTGGTCTAGGCTGCTTCTCACCCTCTGTTCTGCAGGAAAGCTTGTATTTCTTTTTTTTTGACTGGCTCTCATTCTATTGCCCAGGCTGGAGTACAGTAGCATGATCTTGGCTTACTGCAACCTCTGCCTCCCAGCTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGCACCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTCGGCCAGGCTGGTCTCTAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGGCTTACAGGTGTGAGCCACTGTGCCTGGCTGAAAGCTTGTATTTCTAATTTTCATAAAAACGTCCCTGCTGGGGCCGTCATGCTGCCTCTTACTTCCCACTCGGCATGTGTGTTTCAGGTTCCGGGCTGCTGCCCCTAACGCCTGCATCTTCTCCTGTGAACCTCCACCTCGAACCCCGCAGCAGACCCCAGAAAGCCCATCACCCCAGCTCCCAGACAACACCACACGAGCCCCTCACATGTTTCCCTAGCAGGCCTGAGGGACATTTCTTAGGGAAACGGGTAAGAACAGGGCCTGCGTGTCACAGAGGCCCGGCCGCTGACCACGGTGGAGTGGCTGCCTCACCCCGCACACTCGGGACCCAACTCCCAGGGATCTCCCAGCGTGAGAGCAGGGACGGGACTGCGCCGTCACACCTCGCAGCAGGGGCGTCTGTACCGCCAGCCGGCCTTCCTGGAGCCTCTGCTGCAGGTACCTGTCCTTGTTTGAAGGCACTTGCCCTGAACCCTGGCCCCTGTTCTCTGCCAAGACCCCCTTCTTTGGCTTTTGTTGGTAAAGATGACGTGCTATTTACTCAGAAACCAGGCACAAGGGAGCACTGGGTCTTTGGAGTCCGGGCTGCGGGGGGACATGGACTCGAGAGGGGCTCTAGAAGCCACTGCCCCTGCAAGCCCCTGAGGAAGTGGGGCAGCCATGACCGAGGCTGGGCTGCACAGGGCAGGAGCGGGAGACTTCCCTGTCCAGGGGGTCCACATGGGCTGTTGCCATGGCCACCCACCCACACCCCCTCCACAGTCATGACCCAGAGGCTTCACCTTGATGACCAGGTCCACGAAGCCCTTGTCATCATCGCTGGAGATGGGTGTATAGGGCCGGACGACCAGGTTTCCATCAATTCGAGCCGAGAGGTAGATGTGCTGGCCTGCAGGACAGAACGGGGTCACTCTGGGCCAGAGATCATCCTGCGGGTGACCCCTGGGTCTTGTCAACCCACTCCCCTGCACCCCACCCGGCATTCAAAGCCTGGCCTGGCGTCAGCTCCCACGGCCCCCTCCCACCCCTCCCGGGGATTCCCCTCACGTCCCAGCTTCCTGCCTCCATGCCTTCACTCCTGCTGGTGCCACTGCCAGGGACTCTGGGCCTTCCCACTCTCATTCCAACAGACTCGCCCTCAAAGGCCCAGGGCAGCTGTCACCTCCTCCTGAAGGCTTCCCTGCTCTCCCTGGTGGAAATGTAAAGCTTCCATCTCTCTGATCTAGTGCCCCAGCAGCCTGCCGGGCTCCGAATGGGCCCAGCAGGGGCGTGACTCACCGACAGGGAGGCCCAGGATGTGCTGGGGTGACGGCACGGCAAAGCGGAAGCGCCGGGTGTCATGGCTGATGATCTGGAGAGAGGCCCAAAGCTGCTGAACGGTCCCCAGGGCAGAGGCCTCCCAGGGCGGCTCCCAGGCCTCGGAGCCCCCATCCCATTCCTCCTTTGTGTCCCCACCCTTCCCCAGTGCCTGCTTGTCCTTGTAAGACGTGACGCCGACGCCAAGCACAGATGCACACACATGCACGCTGCGTGTGAGGTGCTGAGGCCAGGCGCACGCTGGGTGTGTCTGTCCTGCTGGCCTAGAGGGGCCACAAACAAGGTGGCCAGAACAGGGAATGAACCCAGGGTCCCAAAGGGAGGATGCCAGACAGGACGGGGAGGGAGGAATCCATCTCTGCCATCAGCTCAAGCAGTGGCCTGAAGGGGCAGGAAGAACTTGAGGGCTGGATGGGCAAACTGGGGCAGAGCTAGACAAGGCTGCACGTGCCCAGGCCTGCATCCCAAGAGAGGGGCTGCAGAAGCCACTGCACCTGAGAGCCCCTTGGGAAATGGGGCAGCCAGGACTGAGGTGGGCTTCACAGGGCAGAAAGTGGGAGCCTTCCCTGCCCAGGAACTCCAAGAGCCCAAAGCCAGGCTTCCACCCTGCACAGGGTGGGCACCCAGGGCATGGTCAGTGGCTGGGACAGTGGCAGAGGAGGAGGGGGGCTGGCTAAGAGCCAGATTGGGCCAGGGAAGGAGCTGAGACTAAAACCCCTGAGGTCTTGTTAAGTGGGTCTTACGCTCAGGCCAGGGACGATCACATAATCAGTTCCAGTCGGAGCTGGAACCAAACCCAGCGTCCTGAGGGTGCACTCCCTGTGGGGTCCCCAGTACCCAGCATGGCCAGGAGAGGGAGTGTGAAGAAGCCATGCGGAAGGTCGGCGCTGCAGAGGCGCTTACATCCAAACGTGGCAAAGTCCACATGTGGATGGTGTCATCACTTAGAGGGGGACAACAGACCTCTCCAACAGGGCAGGACATCACAGATGCCCATCTCGGCTCAGTACGAGAACTCTCCGACCTGAGCAGTGTTCCAGCACAGAGCAGCTGCCTCAAGGAGAGACCCGTCCCTACACGTGTGAGCAGAGGCAAATCGCAGGAAAGACGGTGCAAACGCCACTCAGGATCAGGTGTGCAGGGGGCCCACCAACCTCTCCCAGGCAGCCCAGGCCTCAAAGCTGCCTCTACCAGAAGCTTCTGCATTAGGGGCAAACAGAGCCCCAAGGCCTTCTGGAAGTGGATTCCAGGACTATCAACTGGTCCTAAGGGTCAAGGTCAGACACCCATGTACCAGAAAATATTTGGAGGAAGAATAGAAATGAGATGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGAATCATCTGAGGTCGGAAGTTCGAGACCAGTCTGAACAACATGGAGAAATCCCGTCTCTACTAAAACTACAATGTTAGCCAGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAAGGTTGCAGTGAGCTGAGATCGCACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAAAAAAGAATAGAAATGAGGACAAGAGATGAACAATTATGGTGCTGGCCAACCTCTAGTAGGGCAGCAGGGTGGGGCAAAGCACAGAGCACCCAGAGCAGGCCCGCTGCGGACCCCGCAAAGCCACCATGGGCACAATGAGGGGGCAAAGCTGCAATCCTAGGACATCTGCCACATGCTCCCTTGTGTAACATCCCTATGATGAAATACTAAAAGGATCCATGTTGTATGGCTGGCTACAAAACCAGGTTATCAAAAAAAGAAACTGAGTGTGCACACACCCGCACCTCCACACACCCGTGTATGAACGTGATACCCACATAGGGTCTGGCAGGCTCACGCTGAGCTGTGACCTGGGCCCTCTGCACGGGGCCCTGGGATGCGGCAATGGGGCAGGGGTGGAGGTCATACCTTACAGAGTTTTTGCTGTGAGCA 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Task1_train_28887 | The gene CYB5R3 (cytochrome b5 reductase 3) is located on Chromosome 22, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; METHEMOGLOBINEMIA, TYPE I | CCAGGTTCACGCCATTCTCCTGCTTCAGCCTCTGGAGTAGCTGGGATTACAGGCATCTGCCACCACGCCCGGCTAATTTTCATATTGATTGATTGATTGATTGATTGAGACAGCGTCTTGCTCTGTAGCCCAGGCTGGAGTGCAGTGACACGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCTTCAGCCTCTGGAGTAGCTGGGACTACAGGTGCCTGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGTCATTCTCCTGCCTCAGCCTCGCCAGCGGCTGGGACTACAGGTGCCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATAGGGTTTCACCGTGTTACCGGGATGGTCTCAATCTCCTGACCTTGTGATCCGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCCAGCCACGCCCGGCCAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCACGCCTGGCCTAATTTTCGTATTGTTAGTAGAGATGGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCAATAATTTACTTTTCATTTTGTATTTTTTTGCTTCTCTCTGGTTGTCAACTTCTCTGTGAGCTCCTGGGACAATTACAGACACTTGCCCCAACAGTTACAGGAAACGGCCAGCTCCGTGCCATGGAAGCCTGAGATTCCTGTGAAGCCTGAGTCAGAGGCACCAGGCACAAGCCCAGGGTGGAGACTTGGGCCCTGGCAGATGATGTTCTCTGCTGTGACTCAGTTTTCCCTGCCACACCCCTCCTGTGCCTGCTGGGGGTGGCCAGAAATAGAGCAAGGGAGGGGCTCTGAAGAGGGCAAGTGACCGATGGAAGCAGCCTTTACTGGGGGCAAGGCAAAAGAGGGAGAGGATGGTTTTAAATCATAATCAGAGCTTTGAAAAAAAGGAGTCAGGCCGGGCACCACGGCTCATGCCTGTAATCCCAACACTTTGGGAGGTGGAGGTGCGGGGATCACTAGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACAGGACGAAACCCCACCTCTACAAAAAATACAAAAATTAGGCTGGGCGCGGTGGCTCACGCCTGTAATCGCAGCTACTCAGGGGGCTGAGGTAGGAGAATCACTTGAGCCTGGGGAGGCAGAGGTTGCAGTGAGCGGAGATCGCACCACTGCACTCCAGCCTGGGACACAGGGCAAGACTCTGTCTCAAAAAAAAAAAAGTATGAACTCACTAATGAAAGAAAGTAAGAATCAAACAGGGCAGAGGAAGCCCACACAGCTCAGAGCACCCAGGGAATCTGCACAGATGTGAAAGGTGTCCAGGTCCAGTAGTACCAGGCTGTGGGGAATGACTCTGGGGGAGGGGGAGGAGGGAGGAGACCTTATCTTCAAATCTCTCACCCCCTGCATTCCTACCCCATAAATGGGGGATTGAACCTAAAAGTTCTGAGGGGTTCCTTCCATTCTGACCTTGCATGAGGCAGTGAGTGTGGTTCAGAGAAGGGGCTCTGTGGACAGAGAGACCAGGGTTTAAATTCCTCTGCTACTTCCTGGTGGCCTTAGCAAGAGACATCACCTTGCTTTCTCCATCTGTAAAATGGGTGGACAACAGTATCTACTTCAGAGCAGGACCATGCCCTGAGCACAGAGTAGGTGCTGGGCAATGCTGTGATGCTGACGAGGCAGCGGCGGCGGCCGGCACTCACCTCCCGGTCGATGAGCCGCAGCGGGTACTTGATGTCCGGGCTCTCGAGGGTGATGGCTGGCGTGGAGCGCTGGAACAGCTTCATGAGCAGACTGTACAGGAACCAGACTGGGAAGAGCACCATATGGCCCAACTGAAACGACAGGACCCGCGGGGTCAGTGCAGGAGCCTGCCTTTCCCCAAACACACCGGCTTGTCCACACTACCAGGCCTCTGCTCACGCTGCCCCCTCTGCCAGGAGCACCCTCTCCCCACCACCCTCATCCAGAAAGCTTCATCATCCATTTTGGTGCCCACTAGGAGAAGCTATAAAGACCAGCCTCATGACACCTGTCACTGAGCATTACCTGGGCTTCTATGCTCAGTACCATGAGAAAAAGCTCCATTTCCTCTGAAGAGCCAGGACCAAAAAGAGCTGTGGGTCTAAGCACATATCCTTTTTCACTTTGGCTACTAGGAAGCTCAGAGTAAAATTAATCTTGAGCATAATGTATTTGTGCTCCTTCCTTCTCTTGCTTCCTTCAGTCAACTTCCCTGGTCTTATTAAGTGATGTCAAGTTCTAGCTTGATTTAGACAAACAGACAAATAATAACCCCAACTCAGAATCTATCTGAAAGGCCTACACTGACCAAATGGCTCTATGGCACCTTTAAATCCAGTCCCTTGGGGCCACTGGGATTGATGCTCTCCTCTTTGCTCTCCCACAGAGCACACTAGAACAAGCCAGTGAAGCTGAGTAAACTGAGCCACTTCCCCCAAATGACATCCATGAGTGTCCCTGAGCCCTGGGGTTCTGCCATCAGGTGTAAGGGGAAGCGAAGCACTGAGCCAGGCACTGGGAAGGTCACTGGCTGTGTGACCCCGAGAAAGTCCCTTCCCCTCTCAACCTGAGTGGACCAGGTGATCTGCAAGGCCCCCAGAGCTGAGACCCTACAGCTCAGATCACCAAAGCCAACAGCCTCTGGGATCCCAGGGCCACGTCGGGTACCACACGGGCACGGCTCTCGCAGCAACCCCGTGTGGTAGGCACTGTCATCACCACCATTTCGCAGATGAGGAAACAGCCCAGAAAGGCAAAGCGACTCACCCAGTCACACAGCTGGCAGGTGAGGAGCTGACCCAGAGTCCACCCATCCCTTATACCACGCTGGGATACCTCATGACCAAGTGGACCCTGCCACACGGCCCTGAGGGGCTGTTCCTCCCCAGCCCCTGCCCCCGACATCTCAGTCTCCTGAAGGCCCTAAAAGGGGGCTGGGCATAGTGGCTCCAGCCTGTAATCCCAACACTCTGAGAGGCGGAGGCAGGTGAACAGTTTGAGTCCACGAGTTCAAGACCAGCCTGGGCAACAGGGTGAAACTCCATCTCTACAAAAAATATAAAAAGTTAGCTGGTTGTAGGCCCGGTGCAGTGGCTCACGCCTATAATCCCAGCAATTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACAGGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGAGAGGGTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGTTAGCTGGTTGCAGTGTCACACGCCCGTGGTCCCAGCTACTCAGATGGCAGAGGCAGAAGATTGCTTGAGCCCAGTAGTTCGCGACCAGCCTGGGCAACATAGCAAAACTCTGTCTCTGTTGAAAAAAAAAAAAAAAAAGACCCTAAAAGTTGGTTAGAAAACCTGAATCCCTGGGCGGGCACAGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGAAGGTTGCCTGTGGAGGAGGTTGCAGTGAGCCAAGATCACACCACCACACTCCAGCCTGGGAGACAGAGCAAGACTCCATAAAAAAAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGGGGATC 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CCAGGTTCACGCCATTCTCCTGCTTCAGCCTCTGGAGTAGCTGGGATTACAGGCATCTGCCACCACGCCCGGCTAATTTTCATATTGATTGATTGATTGATTGATTGAGACAGCGTCTTGCTCTGTAGCCCAGGCTGGAGTGCAGTGACACGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCTTCAGCCTCTGGAGTAGCTGGGACTACAGGTGCCTGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGTCATTCTCCTGCCTCAGCCTCGCCAGCGGCTGGGACTACAGGTGCCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATAGGGTTTCACCGTGTTACCGGGATGGTCTCAATCTCCTGACCTTGTGATCCGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCCAGCCACGCCCGGCCAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCACGCCTGGCCTAATTTTCGTATTGTTAGTAGAGATGGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCAATAATTTACTTTTCATTTTGTATTTTTTTGCTTCTCTCTGGTTGTCAACTTCTCTGTGAGCTCCTGGGACAATTACAGACACTTGCCCCAACAGTTACAGGAAACGGCCAGCTCCGTGCCATGGAAGCCTGAGATTCCTGTGAAGCCTGAGTCAGAGGCACCAGGCACAAGCCCAGGGTGGAGACTTGGGCCCTGGCAGATGATGTTCTCTGCTGTGACTCAGTTTTCCCTGCCACACCCCTCCTGTGCCTGCTGGGGGTGGCCAGAAATAGAGCAAGGGAGGGGCTCTGAAGAGGGCAAGTGACCGATGGAAGCAGCCTTTACTGGGGGCAAGGCAAAAGAGGGAGAGGATGGTTTTAAATCATAATCAGAGCTTTGAAAAAAAGGAGTCAGGCCGGGCACCACGGCTCATGCCTGTAATCCCAACACTTTGGGAGGTGGAGGTGCGGGGATCACTAGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACAGGACGAAACCCCACCTCTACAAAAAATACAAAAATTAGGCTGGGCGCGGTGGCTCACGCCTGTAATCGCAGCTACTCAGGGGGCTGAGGTAGGAGAATCACTTGAGCCTGGGGAGGCAGAGGTTGCAGTGAGCGGAGATCGCACCACTGCACTCCAGCCTGGGACACAGGGCAAGACTCTGTCTCAAAAAAAAAAAAGTATGAACTCACTAATGAAAGAAAGTAAGAATCAAACAGGGCAGAGGAAGCCCACACAGCTCAGAGCACCCAGGGAATCTGCACAGATGTGAAAGGTGTCCAGGTCCAGTAGTACCAGGCTGTGGGGAATGACTCTGGGGGAGGGGGAGGAGGGAGGAGACCTTATCTTCAAATCTCTCACCCCCTGCATTCCTACCCCATAAATGGGGGATTGAACCTAAAAGTTCTGAGGGGTTCCTTCCATTCTGACCTTGCATGAGGCAGTGAGTGTGGTTCAGAGAAGGGGCTCTGTGGACAGAGAGACCAGGGTTTAAATTCCTCTGCTACTTCCTGGTGGCCTTAGCAAGAGACATCACCTTGCTTTCTCCATCTGTAAAATGGGTGGACAACAGTATCTACTTCAGAGCAGGACCATGCCCTGAGCACAGAGTAGGTGCTGGGCAATGCTGTGATGCTGACGAGGCAGCGGCGGCGGCCGGCACTCACCTCCCGGTCGATGAGCCGCAGCGGGTACTTGATGTCCGGGCTCTCGAGGGGGATGGCTGGCGTGGAGCGCTGGAACAGCTTCATGAGCAGACTGTACAGGAACCAGACTGGGAAGAGCACCATATGGCCCAACTGAAACGACAGGACCCGCGGGGTCAGTGCAGGAGCCTGCCTTTCCCCAAACACACCGGCTTGTCCACACTACCAGGCCTCTGCTCACGCTGCCCCCTCTGCCAGGAGCACCCTCTCCCCACCACCCTCATCCAGAAAGCTTCATCATCCATTTTGGTGCCCACTAGGAGAAGCTATAAAGACCAGCCTCATGACACCTGTCACTGAGCATTACCTGGGCTTCTATGCTCAGTACCATGAGAAAAAGCTCCATTTCCTCTGAAGAGCCAGGACCAAAAAGAGCTGTGGGTCTAAGCACATATCCTTTTTCACTTTGGCTACTAGGAAGCTCAGAGTAAAATTAATCTTGAGCATAATGTATTTGTGCTCCTTCCTTCTCTTGCTTCCTTCAGTCAACTTCCCTGGTCTTATTAAGTGATGTCAAGTTCTAGCTTGATTTAGACAAACAGACAAATAATAACCCCAACTCAGAATCTATCTGAAAGGCCTACACTGACCAAATGGCTCTATGGCACCTTTAAATCCAGTCCCTTGGGGCCACTGGGATTGATGCTCTCCTCTTTGCTCTCCCACAGAGCACACTAGAACAAGCCAGTGAAGCTGAGTAAACTGAGCCACTTCCCCCAAATGACATCCATGAGTGTCCCTGAGCCCTGGGGTTCTGCCATCAGGTGTAAGGGGAAGCGAAGCACTGAGCCAGGCACTGGGAAGGTCACTGGCTGTGTGACCCCGAGAAAGTCCCTTCCCCTCTCAACCTGAGTGGACCAGGTGATCTGCAAGGCCCCCAGAGCTGAGACCCTACAGCTCAGATCACCAAAGCCAACAGCCTCTGGGATCCCAGGGCCACGTCGGGTACCACACGGGCACGGCTCTCGCAGCAACCCCGTGTGGTAGGCACTGTCATCACCACCATTTCGCAGATGAGGAAACAGCCCAGAAAGGCAAAGCGACTCACCCAGTCACACAGCTGGCAGGTGAGGAGCTGACCCAGAGTCCACCCATCCCTTATACCACGCTGGGATACCTCATGACCAAGTGGACCCTGCCACACGGCCCTGAGGGGCTGTTCCTCCCCAGCCCCTGCCCCCGACATCTCAGTCTCCTGAAGGCCCTAAAAGGGGGCTGGGCATAGTGGCTCCAGCCTGTAATCCCAACACTCTGAGAGGCGGAGGCAGGTGAACAGTTTGAGTCCACGAGTTCAAGACCAGCCTGGGCAACAGGGTGAAACTCCATCTCTACAAAAAATATAAAAAGTTAGCTGGTTGTAGGCCCGGTGCAGTGGCTCACGCCTATAATCCCAGCAATTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACAGGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGAGAGGGTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGTTAGCTGGTTGCAGTGTCACACGCCCGTGGTCCCAGCTACTCAGATGGCAGAGGCAGAAGATTGCTTGAGCCCAGTAGTTCGCGACCAGCCTGGGCAACATAGCAAAACTCTGTCTCTGTTGAAAAAAAAAAAAAAAAAGACCCTAAAAGTTGGTTAGAAAACCTGAATCCCTGGGCGGGCACAGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGAAGGTTGCCTGTGGAGGAGGTTGCAGTGAGCCAAGATCACACCACCACACTCCAGCCTGGGAGACAGAGCAAGACTCCATAAAAAAAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGGGGATC 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Task1_train_28888 | This mutation occurs in A4GALT (alpha 1,4-galactosyltransferase (P1PK blood group)) on Chromosome 22. Does this change lead to a known medical condition, or is it benign? | Pathogenic; NOR polyagglutination syndrome | CCAGGTGCAGTGGCTTACCTGAGGTCAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGAGATGGGGCCACTGTACTACAGCTTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAGAAAGAAAGAAACCCAAGAAAACGACACATAACCTGCTCTTGAATACTCCTAAGAGCCAGGGAGCTCACCTCCTTCCCACGCTGCTCAAGACGGTCTGTGGGCAGAAAACGGAGGCCAATGAATGCCTCCCCCTTCAGCTGCCAAAAAGCAGCCTGCTGGGCCCCAGTGTTCCTGGCAGCACCCCCAGTCCTGGTGGGGAACGCCTAGGCAGCTTCCACAATGCAAACCAGCTGGGGTCTCGCCCTGCGGGGAGCAGATATTCCTATGGCCCAGTCCTGGAGCCGCCCACAAGGCACTTCAGGTCCCTCCCGGGATTTCAGCCACAGGCCCTCACAGCTCCCTCACTGGGACCTCTCCCTGGATGGGTGGCAGCTCAGCCCTGCTCCGGCGGTGGGCTCCTCAGTGTCCACATTTGGTCCCATTTATGTTAAACAGATTCAGGCTTGTCATGGGGGGAGTTGTGCTGGTGGGACCCAACCTTCCGTGTTTGTGAGCCTTGAAAAAGGAGGAGGGAAAAACAGGCTCCCCCCATTCCCCACTGCGGGGGCTCTCCATCACCAGGGACACTGGGGCTATGAGCCAGGTCCCGAGCCCTTCCGTGCTGGGCAGGTTGTGAGACCTTGGCAAAGTCACCACCAGTCCACCCAGTGGATTCCCCGTCAGAAGAATGGAGCGGAGGAGGCTGTGAGCCTGAACACACTTCACCAATCACAAGGCCCGAAGTGACAGTCGGTCACTTTTATTCTATTGATTATTCTCCTGTGTTTATAATGCGGGCGGCAGGGTGGGGGTTTCTTTAAAATGCTTCTCCTGAGCCTAAAGAGCCTCCCCACCCAGCCCCTGTCTGAGGGAAGGGGCAGAGCATACACGCCCCCCTGGCATCTCTGGAGAGGAAGAAGGATGGGGTGGGCAGAAGGGGCTGCCCCCAAACGGCTCCCCAGGCTGGCACTTCTGGGCCTCTGCCCCACTCAGTCCCTGTTGACCTCCCCCACCCCCCGCGAAAGAGGAACCAAAACCAGAAAAGAACAAAGCATCCTCCGCCCCGGACCCTTGGGGCTGGGTCTCCCCCAGCCCTGCCACTTTCCTACCAACAGCCTCCTCTCCTCTCTGGGAATCTTGTCCCTTCTTCCCCATCCCCTTAGCACCGGCCTCTGCCCTCGTGGGCACCTCTGTCCCAACTGCCTGGCTTTCCGCACCACCTGGGGGTGCCCTGAGGTTCATCCTTCCTGCCTGTTGTCTAGAAGGCCCGGGGCACTCACTGAGCGCCCTCCGCTGGCTATGGCACCATGTGTCAGCCCTGCCTCGAGACAGGACACTGTCCTCGGGGTGTCCACAGCCTCCCACTGGGCCTGCTCCCACAGCTCCTCAACAGCCTGCCTAAGCCCGGTGGCAGCTCGGGCCTCCCTCTCCCGGGCCCTCAATCTTGCCTCCCCGGGAAGGGCGGCCCAGTGCCCCATCAGGAGCAGGTTGGGGAGGTGACCTGGCGGGCCCCTCACAAGTACATTTTCATGGCCTCGTGCGTCGTGGGGCAGTAGCGGGCATGCAGCTGGGCCAGCAGTGCCCTGGACGTGGCCTCGAACCGCGTGCCCTGGCTCTTCTTGTTCCACACGTGGACAGCATAGGTGGCACTGAGCAGCCGCGGCAGCTCCTCGGGGTTGATGTCCTCAAAGTACTTCTTCCAGTCCTGCCAGGGGATGGGGTAGAAGGCCTCAGGGGGCAGGGTGGTGACGCCGCGGCAGGCGCGGCTCTCGGCCAGGCTGCGGATGGAACACCACTTCTTGAAGACCCGCGTGAGCAGCTGCGGGCCCTGGTGACCCCAGATCCAGCCGTTGTAGTGGTCCACGAAGTCCCGCATGCACAGCGCCATGAACTCGTGCCGGCGCTCGAAGGCCAGGAACGCGCCGTTGAGGACGTAGCGGGACTGGGTGCCCAGCACGTTGGTCAGGTTCCGCAGGTTCTTGAGAACAATGAAGTCCGTGTCCAGGTAGATGCCGCCGAACTTCCACATGAGTGCGATCCTGGAGGCGTCGGAGAGCACGGGCAGCAGGTAGGGCTCCCAGCGCCCCTGCACGGCCGCGTACCAGTCGGCCAGGGGTGTGTCCCGGAACAGCTCCCGCAGGTCCAGCGGGAGCATCTGGACATTCGGGAAGCAGCTCAGAAGTGAGATGCCCAGGTGCCGGGGCAGAGAGGCGTTGCCACCCGGAAGCCCTTTCATCAGGACCAGCACGTGGGATTCGGGGTGAGTTCTGGCGGCCGACTCCACCGAGCACATGAACAGGAAGTTGGGGTTGGTCCGGTCTGAAGTCTCCAGGAAGAAGATGTTGCCTGGAGTGGGGCCGTGGGAGGGTGGGGTGGGGGGTGTCAAGGTGGGGCAGGGGATCTCTGCTGGCAGGTTATAGAGCTGCCCTTTCTCCTTGGGCTCTCCCACAACGTGCCAGTAGATCATGATGGAGACGAAAAACGTGAACTTGAAGCCGATGATGAACAGGGTGCAGACCCGCTGCCTTGGGGCGCCCCGGAGCAGCCGCAGCAGGAGGTCGGGGGGCTTGGACATGGTATCCCCAGATCAGACCAGGAGCTTCCAGCAGGAACCGGCTGGTCTGCAAGAGATGAGCACCCGCCATCAGGGAGGCCGTTGGCATTCCCGATCCACAAGGAAAACGCTTCCTGTGAACATCAGCCAGAGCCAAGGCTGGCTTCCAAGCCCATGGGCTCCTGGGCCCACAGGGGCCAAGGCTTGAACCCCAGCCTGCTGGCTGCTCACCTACGAAATGGGAGCACAGTGGGCCATGGACTGGGGTCTGAGCAGGGTCCCTTCCACTCTCTGCGACACACCTGTGAGCTCACCCAAGGACCAGGCCAGTGCCACCCATGGTGTGTAACCATCACAGGCCCAGGCCAGAGTCTGGTCTGCGTAAGGACTGTCAGAAGTGATGGCTTCGCCATGTGACACACAGGGCTCTGTGAGGATTGGCAGCCTGGGATTTGAGGCCCAGCTCATGCCCGCCTCAGCTCCATAAACCAGGCCTGGGGTTCGTCTAAGGACAGGCCACTGAGGGGCCCTGAGGATGTTCAGCATGAGGTCTGGGGCTCCGGCAGGCCCAGGCGTTGGTTTGCTAAGGGCTGGCCCAGCAGGTGCACTCACAGGGCACTCGCTCCAGGCACATGACGCTGACTGGTACTACTGCCATTAGACCTCTCTTTCCTGGTGGCCAGGAACATGCCCAGGTGCCTCGCAGGTGGTTGGAGGAGCAGCAGGCTTGGACCCTGCTCCTGGGGAAAAGACTGTGGGAACACCTGGGAGGCATGAGACCCCAACTCTGCCTGAACCGGCTGTGTGACCTGGGGCAAGTTACGGAGCTCTCTGAGCCTCAGTCTTCCCACCGACAGGATAGGACGCTGGAACCCACTAAAGGGTAACATTCATTCATTCATAGTTCGATAAATACTGGCTGTCCATCCTGTCCATGCCAGGTGACTTTCTCAGCATCTCACACATAGGAACATGTGTGGCCCCTTATAACCACCCTATGGGGTGGCAATCACCACCCCCACCCTACAGATGAGGAAATTGAGGCACAGAAGTGCAGTACCTTGTGCAGAGTCCCACAGCCAGCAATGACAGTGCAGGGGGTTAGGACCCAGGCCACCTGGCTGGGGTCCCTGCTCTCACCACTGCACCGCCCTGCCTGGGAGAGGTGGCTAGCCAATGTACCTGGTGTGTTGGAGGAACTTGGTGCATGCTGACCTGAACTGTATCGATGTTAACAGCCAGCGGGATCACCATCGACTCTGACTTCTACGCTCCATGACAAAGTCACACCCCCTTTGACCCTCAGCAAGCCCGAGGGGCAGTTGCATCGTTTCTACTTTAGGTGCCAGGAAACCTGGGCATAAAGTCAAGGGACTGGGTGCAACCTGATTGCTAAGGGGAGCTAAGAGTCGGTCCCCTCCCAAGGACAGGCAGAAGG 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CCAGGTGCAGTGGCTTACCTGAGGTCAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGAGATGGGGCCACTGTACTACAGCTTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAGAAAGAAAGAAACCCAAGAAAACGACACATAACCTGCTCTTGAATACTCCTAAGAGCCAGGGAGCTCACCTCCTTCCCACGCTGCTCAAGACGGTCTGTGGGCAGAAAACGGAGGCCAATGAATGCCTCCCCCTTCAGCTGCCAAAAAGCAGCCTGCTGGGCCCCAGTGTTCCTGGCAGCACCCCCAGTCCTGGTGGGGAACGCCTAGGCAGCTTCCACAATGCAAACCAGCTGGGGTCTCGCCCTGCGGGGAGCAGATATTCCTATGGCCCAGTCCTGGAGCCGCCCACAAGGCACTTCAGGTCCCTCCCGGGATTTCAGCCACAGGCCCTCACAGCTCCCTCACTGGGACCTCTCCCTGGATGGGTGGCAGCTCAGCCCTGCTCCGGCGGTGGGCTCCTCAGTGTCCACATTTGGTCCCATTTATGTTAAACAGATTCAGGCTTGTCATGGGGGGAGTTGTGCTGGTGGGACCCAACCTTCCGTGTTTGTGAGCCTTGAAAAAGGAGGAGGGAAAAACAGGCTCCCCCCATTCCCCACTGCGGGGGCTCTCCATCACCAGGGACACTGGGGCTATGAGCCAGGTCCCGAGCCCTTCCGTGCTGGGCAGGTTGTGAGACCTTGGCAAAGTCACCACCAGTCCACCCAGTGGATTCCCCGTCAGAAGAATGGAGCGGAGGAGGCTGTGAGCCTGAACACACTTCACCAATCACAAGGCCCGAAGTGACAGTCGGTCACTTTTATTCTATTGATTATTCTCCTGTGTTTATAATGCGGGCGGCAGGGTGGGGGTTTCTTTAAAATGCTTCTCCTGAGCCTAAAGAGCCTCCCCACCCAGCCCCTGTCTGAGGGAAGGGGCAGAGCATACACGCCCCCCTGGCATCTCTGGAGAGGAAGAAGGATGGGGTGGGCAGAAGGGGCTGCCCCCAAACGGCTCCCCAGGCTGGCACTTCTGGGCCTCTGCCCCACTCAGTCCCTGTTGACCTCCCCCACCCCCCGCGAAAGAGGAACCAAAACCAGAAAAGAACAAAGCATCCTCCGCCCCGGACCCTTGGGGCTGGGTCTCCCCCAGCCCTGCCACTTTCCTACCAACAGCCTCCTCTCCTCTCTGGGAATCTTGTCCCTTCTTCCCCATCCCCTTAGCACCGGCCTCTGCCCTCGTGGGCACCTCTGTCCCAACTGCCTGGCTTTCCGCACCACCTGGGGGTGCCCTGAGGTTCATCCTTCCTGCCTGTTGTCTAGAAGGCCCGGGGCACTCACTGAGCGCCCTCCGCTGGCTATGGCACCATGTGTCAGCCCTGCCTCGAGACAGGACACTGTCCTCGGGGTGTCCACAGCCTCCCACTGGGCCTGCTCCCACAGCTCCTCAACAGCCTGCCTAAGCCCGGTGGCAGCTCGGGCCTCCCTCTCCCGGGCCCTCAATCTTGCCTCCCCGGGAAGGGCGGCCCAGTGCCCCATCAGGAGCAGGTTGGGGAGGTGACCTGGCGGGCCCCTCACAAGTACATTTTCATGGCCTCGTGCGTCGTGGGGCAGTAGCGGGCATGCAGCTGGGCCAGCAGTGCCCTGGACGTGGCCTCGAACCGCGTGCCCTGGCTCTTCTTGTTCCACACGTGGACAGCATAGGTGGCACTGAGCAGCCGCGGCAGCTCCTCGGGGTTGATGTCCTCAAAGTACTTCTTCCAGTCCTGCCAGGGGATGGGGTAGAAGGCCTCAGGGGGCAGGGTGGTGACGCCGCGGCAGGCGCGGCTCTCGGCCAGGCTGCGGATGGAACACCACTTCTTGAAGACCCGCGTGAGCAGCTGCGGGCCCTGGTGACCCCAGATCCAGCCGTTGTAGTGGTCCACGAAGTCCCGCATGCACAGCGCCATGAACTCGTGCCGGCGCTCGAAGGCCAGGAACGCGCCGTTGAGGACGTAGCGGGACTCGGTGCCCAGCACGTTGGTCAGGTTCCGCAGGTTCTTGAGAACAATGAAGTCCGTGTCCAGGTAGATGCCGCCGAACTTCCACATGAGTGCGATCCTGGAGGCGTCGGAGAGCACGGGCAGCAGGTAGGGCTCCCAGCGCCCCTGCACGGCCGCGTACCAGTCGGCCAGGGGTGTGTCCCGGAACAGCTCCCGCAGGTCCAGCGGGAGCATCTGGACATTCGGGAAGCAGCTCAGAAGTGAGATGCCCAGGTGCCGGGGCAGAGAGGCGTTGCCACCCGGAAGCCCTTTCATCAGGACCAGCACGTGGGATTCGGGGTGAGTTCTGGCGGCCGACTCCACCGAGCACATGAACAGGAAGTTGGGGTTGGTCCGGTCTGAAGTCTCCAGGAAGAAGATGTTGCCTGGAGTGGGGCCGTGGGAGGGTGGGGTGGGGGGTGTCAAGGTGGGGCAGGGGATCTCTGCTGGCAGGTTATAGAGCTGCCCTTTCTCCTTGGGCTCTCCCACAACGTGCCAGTAGATCATGATGGAGACGAAAAACGTGAACTTGAAGCCGATGATGAACAGGGTGCAGACCCGCTGCCTTGGGGCGCCCCGGAGCAGCCGCAGCAGGAGGTCGGGGGGCTTGGACATGGTATCCCCAGATCAGACCAGGAGCTTCCAGCAGGAACCGGCTGGTCTGCAAGAGATGAGCACCCGCCATCAGGGAGGCCGTTGGCATTCCCGATCCACAAGGAAAACGCTTCCTGTGAACATCAGCCAGAGCCAAGGCTGGCTTCCAAGCCCATGGGCTCCTGGGCCCACAGGGGCCAAGGCTTGAACCCCAGCCTGCTGGCTGCTCACCTACGAAATGGGAGCACAGTGGGCCATGGACTGGGGTCTGAGCAGGGTCCCTTCCACTCTCTGCGACACACCTGTGAGCTCACCCAAGGACCAGGCCAGTGCCACCCATGGTGTGTAACCATCACAGGCCCAGGCCAGAGTCTGGTCTGCGTAAGGACTGTCAGAAGTGATGGCTTCGCCATGTGACACACAGGGCTCTGTGAGGATTGGCAGCCTGGGATTTGAGGCCCAGCTCATGCCCGCCTCAGCTCCATAAACCAGGCCTGGGGTTCGTCTAAGGACAGGCCACTGAGGGGCCCTGAGGATGTTCAGCATGAGGTCTGGGGCTCCGGCAGGCCCAGGCGTTGGTTTGCTAAGGGCTGGCCCAGCAGGTGCACTCACAGGGCACTCGCTCCAGGCACATGACGCTGACTGGTACTACTGCCATTAGACCTCTCTTTCCTGGTGGCCAGGAACATGCCCAGGTGCCTCGCAGGTGGTTGGAGGAGCAGCAGGCTTGGACCCTGCTCCTGGGGAAAAGACTGTGGGAACACCTGGGAGGCATGAGACCCCAACTCTGCCTGAACCGGCTGTGTGACCTGGGGCAAGTTACGGAGCTCTCTGAGCCTCAGTCTTCCCACCGACAGGATAGGACGCTGGAACCCACTAAAGGGTAACATTCATTCATTCATAGTTCGATAAATACTGGCTGTCCATCCTGTCCATGCCAGGTGACTTTCTCAGCATCTCACACATAGGAACATGTGTGGCCCCTTATAACCACCCTATGGGGTGGCAATCACCACCCCCACCCTACAGATGAGGAAATTGAGGCACAGAAGTGCAGTACCTTGTGCAGAGTCCCACAGCCAGCAATGACAGTGCAGGGGGTTAGGACCCAGGCCACCTGGCTGGGGTCCCTGCTCTCACCACTGCACCGCCCTGCCTGGGAGAGGTGGCTAGCCAATGTACCTGGTGTGTTGGAGGAACTTGGTGCATGCTGACCTGAACTGTATCGATGTTAACAGCCAGCGGGATCACCATCGACTCTGACTTCTACGCTCCATGACAAAGTCACACCCCCTTTGACCCTCAGCAAGCCCGAGGGGCAGTTGCATCGTTTCTACTTTAGGTGCCAGGAAACCTGGGCATAAAGTCAAGGGACTGGGTGCAACCTGATTGCTAAGGGGAGCTAAGAGTCGGTCCCCTCCCAAGGACAGGCAGAAGG 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Task1_train_28889 | A mutation in WNT7B (Wnt family member 7B), located on Chromosome 22, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Matthew-Wood syndrome | AGAGTTTCTTCCCCGGGGGTGTGGGAAAGGCTCTGCTCAGAACCTAAGCAGCTGCAGAGGCTCGAGGATGGTGGTGGTTCCCACGAGGGCTCAGCCTTGCCTTCTCCTCTTTCTCCTCCTCCTCCAGGGAGTCCTCCCAGATGCCTCCAGGTAGGTGAACCACACTTTCCTCTGGACTCTCAAGGTTCGTAGGCCTCCTTTATGGCATGGACTGTGATCTGCCTGTACCTGGAGACTAGTGCTCACATGCTGTCTGTGAGTTCCTTGGAGGCAAAGCCTGTGTCACTCATTCCTTTATCCATCCATCTATTCACCCATCCACCCACTCACCCATCCATCCTTCCATCCACCCGTGAATCCACTCATCCATCCACCCACCCACTGATCCATCCTTTGATTCGTCCATCTACTTATCCTTCCATCTGTACATCCACCCACCCACCCACCCACCAATACTTCCGTCCATCTTTCCACCCACTCATCCTTCCAACCATCCTTCCACCCATCCCCTCATTCATCCATACTTCCATCCATTCATGCATCCATCCACCTGCCCATACACCCATCCTTCCATCCATGCATCCACTCATCCATCCTTCCACCCACCCGCCCATCCTTCCCTCCATACTTCCATCCACCCATCTTTCCATCCACCCGTGAATCCACTCACCCATCCACCCACCGATCCATCCTTTCATTCATCTGTCTACTTATCCTTCCATCCACCCACCGATCCACTCAACCATCTACCCATCCATCTATCTTCCCATGCACTCTTCTATACATCCACCCACTCATCCTTCCATCCATCCATCCAACCATCTACCCACTCATCCACTCATCTATCTACCCATCCATCTATCCTCCCATCCACCCACTCATCCTTCCATCCATCCACTCATACATCTATCCATCCATCCAACAATAACTTAATAACCACCTGCATGATAACCTCCACATCTACAAGAGAAAGTCAAACCCCTGGCCTGGTGTTCAAGATCTCTTCTGTGCCAGGCCCTACTTGCTTCCCAAGCCCTGTGGCCATCAAAGCTTCACTCTGACACTCTCCTACACAACCAAGCCCTCACCGTCCTGGGTGTGACCCCTGCACCCCTCATGTGGACCCAGTTCCCACAGCCAGGGCCCTGATTCCTCTCTGCCCCGTGCCCAGCCTAGCACCTGGCACAGAAAAGGGCAGTGAGTGACCAGTGGCCTCAGCTATGGTCCCTGGGCCCGAGGGATTCTTCAGCTCCACTTTGCCTGGAACGGCAAGTCTGTCCCACACCTGAGAAGCCCCCTAGGCTCTGCTGCCCTGGGTGCAGCCCCCAGGCCTCGGAGCCGGAGCCGGCTGGGCGTTCCACTTGGCTGGCCACCCTATCTCAGGCCATCTTGCCGCCGTGCAGCTGCTCCTCCCAGCCCAGTATCTGGGGCCCTCATCTCCAGTGGGCGGGGCCCGGCTTGCTCTGACTTCTTCCCCGGTGTGTCCCTGCCTGAATTTCCTCCATTGCCACCCACCACACTCCGTCCCGCCCCATGCAGGAGCGGCCTGCTCCCCAGCAGCCCCCGGCTCACAGCTTCCACCTTCCTCAGGCTGCTCCTGCCTCCTGGGGGCATCCCTTCCTTGCTGAGCAAAAAGGCTGCCTCTGCCAGGAAGTCTTTCCTGGTGTGCCGAGGTGACCTCCGGGACCAGGAACGCCAAGGGCAGGGACATGGGCTGTGGCCTGGGACCCTCCGCCACGGGGTCCCCAGCCAAGCCCAGCTCACACCCTGCATGGAAATGGAGTCCCCATCTTCCCTGGGGGCCGTGAGCATCGCGTTGGCATTCAGAGCCTCGGCTCTCACATCTCTGGATGGGGACAGCCTCCTCCCGGTGCTGGGAGGCTCAGAGCCATGCACGTGGAGGACCCAGACGGCCCCACCCCCTGCACACCTACGGAGACTCAACTGCTTCTGCTAGAAGAGGAGCCTGAGGCTCCGAGAGGTCAGCGGGTGATACAGCGGTCCCAGCTACGGCCCCCACCAGCCGCACCCGCACCCTACCTTCCTGCCGGCCTCATTGTTATGCAGGTTCATGAGGCGCCGCGCGTTCTTCTTGATCTCCCGAGCGTCCACGAAGCGCCGGGAGAAGTCGATGCCGTAACGCACGTCGGCCGAGCAGCCGCCCCACTTCCAGCCCTCGGCTTGGTTGTAGTAGCCCTGCTTCTCGCGGTCGCAGCCGCAGTTGCTCAGGTTCCCTTGGCTGCAGGCAGCGGTGACGGCGTGCGCCACGCCAGCCGCGGTGATGGCGTACGTGAAGGCAGCCTCACGGCTCCCTGCGGGGACAGACAGGTGCAGAAGGTGAGACCCCAGGCCCTGGGCCAGGTGGGCTCAGGGGACAGGGTGCCGGGCCTCGATCCACCTGCTGTTGGCTGGTTGTGTGACCCTGGGCTCATCGCTCGCCCCCTCTGTGCCTCTGACTCACCAAAGCGGGGCTGATGGGAGCCATCTCTCAGGGCTATGGTAGGGGCAGCACCTGGTATACAGCAGGCCCCAGGTCACCCTGTGAGTGCCTGGTACACAGCAGGCCCCAGTGCACCCTGCGACTGCCCTCCAGCATGCAGTGCTGCCGACAGCTTCTCTCCCTGTTCCCAAGACTGGGCAGGAGAGGCCCAGTTTCTCCAGCCCTGAGAGTGACTGGTGGGGACCTGTGGAGGGGGATGGGTGTCCATGCCTCTGCTCCTCCCCTCTGCCAGCCTCCCAGGAGCCCCTCCTCATGAACGGGCATTTGCACTGACCCCCGTGGGGACCAGGCATGCATGGCTGATGGAACCTGGGGCCACGGGGAGCATGGGGGGCCTCGTCCCCACCCCCAGCCAGGAACCCAGGCAGAAGTCACACAGCTCAGAAGCTCTTTGTTGCCATCTCCCTCTTGGTCCACCCGCCTTCAGTCCGTCTCCAGATCCTCGGCCCATTTTCCTCACTTCCTCCTAATACCCCTGCCTGACCCAGGGGCCCCAGAACTGCCTGGACTTGGGCAGCAGTCCTCCCTGCTGCTTCATCTCCCCAGCCACCAGCTGGTTCCCTCCAAGGGCAGTCTGGCCAGGTCCCTCGCTGGCACCTTCACTGCTCCCCTCTGCCGGTAGAGCCAAGCCCACGGCTGAGCTGGGAGGGGAGGGTCCCAGGTCAATGCCTACTGGCTGCCTCAGCCCTCTCTCCCCATCCTCTGCCCAGAACAGTGACTCAGTCCTTCCAGGCGCTGCTCACATCCCCTGGGGATTATGTGGTCTTTTTGGTGGCATTCCCTCCCACTTCATACCCAAATCCCAAGGACCTTCCAAGGCCCGGGTCTGAGGCCTCCCTGTCCAGGCAGCCTTCCCAGACCCCCCCCGCCAGAAGGGAGCACTTGGTACCTGACCCTTCAGTTCCTGATTTGACCCAGATCCGGACACCCTCTCCCTGGTGAGCCCTACCAGCGGGGACTTCCATATGGGTCCGAAGACCCGAGATGGGCAGGTTCAGCTCTCATTTCCTCTTTGTTTCCCCCATCTCCAGGCCAGGCCCTGTGCATCCTTCCATCCTGGCTCTGGACTCTTGGGTCCCTCTCAACCTGCCCCTGGCTGAGTCCATGTCATTTCTATGTCCCCAGCGCCTGGTCCATGTGGACACCGAGCAGGCTCAACCATGCCAGCTGGAGGACCAAGAGCCAAACTCCAGTGAGTGGGAACCTCCCTGCCCATCTCAGCAACAGGAAGAACAGGGACAGTGCTCAGCCCAGGAGAGGGCAGCTGGAGACTCACACTGCTGGCATGGTGCAGTCCCCTGCCCAGCACCCGCGAGCACCTGCACAGCCCTCAGTTGCCCACTGCTGTGCCTGTTATTGGGGCTGAGGTGACAGCCCGCAGATAGAGAGGCAAGTCAGGTCTGTTCTATGAACAACTACTGAGCACCAACGGCATGCCCAGCTTTGTGCTAGGGGCTGTGTGCATGCTCTGGGGCCACTTCCTTGCCCGCAGCCTGCTGGGGGCTCAGCCAGGTGGGGGTCCCTCTTCCCCTAGGGTATCTTCCATCAGGGTGAGGACTGGGATGGGGCCCACCAGCCTTAGGAGAAGACCTTGGT 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AGAGTTTCTTCCCCGGGGGTGTGGGAAAGGCTCTGCTCAGAACCTAAGCAGCTGCAGAGGCTCGAGGATGGTGGTGGTTCCCACGAGGGCTCAGCCTTGCCTTCTCCTCTTTCTCCTCCTCCTCCAGGGAGTCCTCCCAGATGCCTCCAGGTAGGTGAACCACACTTTCCTCTGGACTCTCAAGGTTCGTAGGCCTCCTTTATGGCATGGACTGTGATCTGCCTGTACCTGGAGACTAGTGCTCACATGCTGTCTGTGAGTTCCTTGGAGGCAAAGCCTGTGTCACTCATTCCTTTATCCATCCATCTATTCACCCATCCACCCACTCACCCATCCATCCTTCCATCCACCCGTGAATCCACTCATCCATCCACCCACCCACTGATCCATCCTTTGATTCGTCCATCTACTTATCCTTCCATCTGTACATCCACCCACCCACCCACCCACCAATACTTCCGTCCATCTTTCCACCCACTCATCCTTCCAACCATCCTTCCACCCATCCCCTCATTCATCCATACTTCCATCCATTCATGCATCCATCCACCTGCCCATACACCCATCCTTCCATCCATGCATCCACTCATCCATCCTTCCACCCACCCGCCCATCCTTCCCTCCATACTTCCATCCACCCATCTTTCCATCCACCCGTGAATCCACTCACCCATCCACCCACCGATCCATCCTTTCATTCATCTGTCTACTTATCCTTCCATCCACCCACCGATCCACTCAACCATCTACCCATCCATCTATCTTCCCATGCACTCTTCTATACATCCACCCACTCATCCTTCCATCCATCCATCCAACCATCTACCCACTCATCCACTCATCTATCTACCCATCCATCTATCCTCCCATCCACCCACTCATCCTTCCATCCATCCACTCATACATCTATCCATCCATCCAACAATAACTTAATAACCACCTGCATGATAACCTCCACATCTACAAGAGAAAGTCAAACCCCTGGCCTGGTGTTCAAGATCTCTTCTGTGCCAGGCCCTACTTGCTTCCCAAGCCCTGTGGCCATCAAAGCTTCACTCTGACACTCTCCTACACAACCAAGCCCTCACCGTCCTGGGTGTGACCCCTGCACCCCTCATGTGGACCCAGTTCCCACAGCCAGGGCCCTGATTCCTCTCTGCCCCGTGCCCAGCCTAGCACCTGGCACAGAAAAGGGCAGTGAGTGACCAGTGGCCTCAGCTATGGTCCCTGGGCCCGAGGGATTCTTCAGCTCCACTTTGCCTGGAACGGCAAGTCTGTCCCACACCTGAGAAGCCCCCTAGGCTCTGCTGCCCTGGGTGCAGCCCCCAGGCCTCGGAGCCGGAGCCGGCTGGGCGTTCCACTTGGCTGGCCACCCTATCTCAGGCCATCTTGCCGCCGTGCAGCTGCTCCTCCCAGCCCAGTATCTGGGGCCCTCATCTCCAGTGGGCGGGGCCCGGCTTGCTCTGACTTCTTCCCCGGTGTGTCCCTGCCTGAATTTCCTCCATTGCCACCCACCACACTCCGTCCCGCCCCATGCAGGAGCGGCCTGCTCCCCAGCAGCCCCCGGCTCACAGCTTCCACCTTCCTCAGGCTGCTCCTGCCTCCTGGGGGCATCCCTTCCTTGCTGAGCAAAAAGGCTGCCTCTGCCAGGAAGTCTTTCCTGGTGTGCCGAGGTGACCTCCGGGACCAGGAACGCCAAGGGCAGGGACATGGGCTGTGGCCTGGGACCCTCCGCCACGGGGTCCCCAGCCAAGCCCAGCTCACACCCTGCATGGAAATGGAGTCCCCATCTTCCCTGGGGGCCGTGAGCATCGCGTTGGCATTCAGAGCCTCGGCTCTCACATCTCTGGATGGGGACAGCCTCCTCCCGGTGCTGGGAGGCTCAGAGCCATGCACGTGGAGGACCCAGACGGCCCCACCCCCTGCACACCTACGGAGACTCAACTGCTTCTGCTAGAAGAGGAGCCTGAGGCTCCGAGAGGTCAGCGGGTGATACAGCGGTCCCAGCTACGGCCCCCACCAGCCGCACCCGCACCCTACCTTCCTGCTGGCCTCATTGTTATGCAGGTTCATGAGGCGCCGCGCGTTCTTCTTGATCTCCCGAGCGTCCACGAAGCGCCGGGAGAAGTCGATGCCGTAACGCACGTCGGCCGAGCAGCCGCCCCACTTCCAGCCCTCGGCTTGGTTGTAGTAGCCCTGCTTCTCGCGGTCGCAGCCGCAGTTGCTCAGGTTCCCTTGGCTGCAGGCAGCGGTGACGGCGTGCGCCACGCCAGCCGCGGTGATGGCGTACGTGAAGGCAGCCTCACGGCTCCCTGCGGGGACAGACAGGTGCAGAAGGTGAGACCCCAGGCCCTGGGCCAGGTGGGCTCAGGGGACAGGGTGCCGGGCCTCGATCCACCTGCTGTTGGCTGGTTGTGTGACCCTGGGCTCATCGCTCGCCCCCTCTGTGCCTCTGACTCACCAAAGCGGGGCTGATGGGAGCCATCTCTCAGGGCTATGGTAGGGGCAGCACCTGGTATACAGCAGGCCCCAGGTCACCCTGTGAGTGCCTGGTACACAGCAGGCCCCAGTGCACCCTGCGACTGCCCTCCAGCATGCAGTGCTGCCGACAGCTTCTCTCCCTGTTCCCAAGACTGGGCAGGAGAGGCCCAGTTTCTCCAGCCCTGAGAGTGACTGGTGGGGACCTGTGGAGGGGGATGGGTGTCCATGCCTCTGCTCCTCCCCTCTGCCAGCCTCCCAGGAGCCCCTCCTCATGAACGGGCATTTGCACTGACCCCCGTGGGGACCAGGCATGCATGGCTGATGGAACCTGGGGCCACGGGGAGCATGGGGGGCCTCGTCCCCACCCCCAGCCAGGAACCCAGGCAGAAGTCACACAGCTCAGAAGCTCTTTGTTGCCATCTCCCTCTTGGTCCACCCGCCTTCAGTCCGTCTCCAGATCCTCGGCCCATTTTCCTCACTTCCTCCTAATACCCCTGCCTGACCCAGGGGCCCCAGAACTGCCTGGACTTGGGCAGCAGTCCTCCCTGCTGCTTCATCTCCCCAGCCACCAGCTGGTTCCCTCCAAGGGCAGTCTGGCCAGGTCCCTCGCTGGCACCTTCACTGCTCCCCTCTGCCGGTAGAGCCAAGCCCACGGCTGAGCTGGGAGGGGAGGGTCCCAGGTCAATGCCTACTGGCTGCCTCAGCCCTCTCTCCCCATCCTCTGCCCAGAACAGTGACTCAGTCCTTCCAGGCGCTGCTCACATCCCCTGGGGATTATGTGGTCTTTTTGGTGGCATTCCCTCCCACTTCATACCCAAATCCCAAGGACCTTCCAAGGCCCGGGTCTGAGGCCTCCCTGTCCAGGCAGCCTTCCCAGACCCCCCCCGCCAGAAGGGAGCACTTGGTACCTGACCCTTCAGTTCCTGATTTGACCCAGATCCGGACACCCTCTCCCTGGTGAGCCCTACCAGCGGGGACTTCCATATGGGTCCGAAGACCCGAGATGGGCAGGTTCAGCTCTCATTTCCTCTTTGTTTCCCCCATCTCCAGGCCAGGCCCTGTGCATCCTTCCATCCTGGCTCTGGACTCTTGGGTCCCTCTCAACCTGCCCCTGGCTGAGTCCATGTCATTTCTATGTCCCCAGCGCCTGGTCCATGTGGACACCGAGCAGGCTCAACCATGCCAGCTGGAGGACCAAGAGCCAAACTCCAGTGAGTGGGAACCTCCCTGCCCATCTCAGCAACAGGAAGAACAGGGACAGTGCTCAGCCCAGGAGAGGGCAGCTGGAGACTCACACTGCTGGCATGGTGCAGTCCCCTGCCCAGCACCCGCGAGCACCTGCACAGCCCTCAGTTGCCCACTGCTGTGCCTGTTATTGGGGCTGAGGTGACAGCCCGCAGATAGAGAGGCAAGTCAGGTCTGTTCTATGAACAACTACTGAGCACCAACGGCATGCCCAGCTTTGTGCTAGGGGCTGTGTGCATGCTCTGGGGCCACTTCCTTGCCCGCAGCCTGCTGGGGGCTCAGCCAGGTGGGGGTCCCTCTTCCCCTAGGGTATCTTCCATCAGGGTGAGGACTGGGATGGGGCCCACCAGCCTTAGGAGAAGACCTTGGT 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Task1_train_28890 | The following genetic variant occurs in TRMU (tRNA mitochondrial 2-thiouridylase) on Chromosome 22. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | GGTTCATACCACAAGGGAGGGTTCTCATGCACATGTGCCTAATAATAACAACTATCACAAAAGACTGCAAAAACCACAACTTTACACAAAGGCTATCGTAACCTTCCTCAAAAAAAAAAAAAAAACAAAAAACTTCTGTTGCAAGGACATCTGCCCAGCAACTGCTTGTCCAACCCTGGAGTGCTGTCACCCTTGTTATTGATCTTTGTAGCCAAAGAATTATCTCAAAACAATGATGTGATCCTCATTTTCCCTTTAAAAACCTTTGTCTTCCTAGGCCGGGCACTGTGGCTCACGCGTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAATGCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGCGGAGGTTGCAGTGAGCTAAGATCACGCCACTGCACTCCAGCCTAGTGACCAAGTGAGACTGTCTCAAAAAAATAAATAAATAAAATAAAAACCTTTGTCTTCCTTTACTTCCCTGAATACCCACATAGCTTATTGTGGCATGCATATTCCCATTGCAATGCCCTATTCACAAATGAACATCTTTTTCGTTCAGAGTCTCCCTGTGCTTTAGGTAGACCTTGTCTAGATGCTAACTCGTAGAGAAGAACTCAGCTTGAATATCACCCCTGGGGGATGACCTCCATTCTCTCCTCCTTCCTTTATTCAGCGAGGTTATGAAGCACCTGCCCTGGGCCAGGGGCTTTTCTGGGCATGGAGTAGGAGTGGACAGAACACAAAACCCCTGTCCAACACACCTCACAGACATTAAGGATTGAGTGCTGAGTATGCTTGGAGTCAAACTGTAAAAGATTTGAAGATATTTATTCATGTCATAGTCCCAGGAGATCCTGAGAACACGTGCTCAAACTGGTGGTGCTACAGCTTTTGGTTTCGTACGTTTTAGGGAGACATAAGCCATAAATCAATACATGTAAGATGTAACATTGGTTCCGGAAAGGTGGGACAACTCGAAGGTGGGGTGGGGCTTCCAGGTCATAGGTGGATTCAAAGATTTTCTGGGCCGGGGGCAGTGACTCACACCTGTAATCCCGCCACTTTGGGAGGCTGAGGTGGGCGGATCCCTTGAGGTCAGGAGTGAGAGACCAGCCTGGCAAATACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCTTGGTGGCGGGCGCCTGTAATCGCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTTGGAGGTGAAGGTTGCAGTGAGCCGAGGTCGCGCCCACTACACTCCAGCCTGCGACAGAGCAAAACTCCATCTCAAAAAAATTTAATTAATTAAAAATTAAATTAAATTAAAATACTGTAAAATACTTCGATATCTTTCAGGGCCTGCCATCTGTCATGTCGGTATCCTATTGCTACGGAGAGTCCGCCTAGACAGTCTTAAGTCTGTTTTGACGTTAATGCTGGTCCGAATTCCAAAGGGAGGAGGAGGGTCTAGTGAGGCGGGTCCCACCCGGCCTTTCCCATCAGAGCCCGAACTCGCGGTTCAGGTTCCCTCTAGGACGCCCTTGGCCGAGAGGAGGCCTCCAATGGCTGGCTGGGGGGCTTAGAATTTTATTTTTGGTTTACAGCGCAGAAGAAGAGCAGTGAGGCCGGGGCGCGGGTGGGGAGGGCAAGGCGGCGGCTCAAAAAAAAAGCCAGCCCCTCGCGGCCCGACAGAGTCTCGGCGCCCCGCGGGTCGGTGGAGCCTCAGGGGTGAGCGCAGGCCGGAGACAGGGGAACCCGCCGCGGGACAGGGGAAGGCCGGACGGAACGCGGGTAAGCTGCCGCAGCTTCCGGCCGGGCCACTAGCGCGGACCCTACGGCCGGGGCGGGACTTCCGGCAAGGCGCGGAAGCGGCGGTAGCTGCAGCTGGCGAAGTTGGGCGACTGGCGGATGCAGGCCTTGCGGCACGTCGTGTGCGCCCTGTCCGGCGGCGTGGACAGCGCCGTGGCCGCGCTGCTGCTGAGGCGGAGAGGTGAGGCGTCCGAGGCTCCCGCCCCCCGCCGAGCGAATGTGTCCCCGGAAACCTGTCCCCGTCCGTCGTGGCGTTGTGCACGTCTCCTCCCTCCCTGGGCCGCTGGTTGCGCGCGGGTCGGCAGGAGGATACCCCGTCCTCTGACTTTGGTTCGGAGGCTCCTCGCCCTCCACCTGTGTAGTCGGAGGTGTGCGCGACTGCAGCTCCGACTACCTGGGAGCAGTTCCGCGCCCCTCTCCACCCACGCGCGCCCACCCACAGTGAGAAGCCGGCGGGCCGGGGTGGGGTGGGGAGGGAAGGGTTTCTCACGGATCTGCGGCGTCCACATTCACCTGTGAGACCGTGGACACTGGTGAGGGGAGCTGGGATCGCCGGGCCGGGGGCCTGACCTCTGCACACGCTGTGGCCGCCCGGTGGGAGGTCCTTGTCCTCCCCACTCAGCAGACTGGACAACTGCCGCGCGGCGGGTCTGCTTGTTCAGCGTCTCCTGTGTTCTCCGCTCGCTGGAGGACAAAGTTTTCTCCAGGAGCATTTGCATTTCTTCCGGCATCTAAACGGAGCCCCACGGGTGCTTAGCATTCCTCGGGCCCGGCGCTGAAATGAGCACTTGTTTAACTTCACCTGTGTGGCTCCCCGCGGGAGGCCTCATTCACAGAGTCACGTTTGTGGAGCTCTGCTTTGCGCCATCTTTGGCTCCTGACCTTGGGCAAGTGAATTAAGCCGTCCCCTGTAAAATTCGGCTAACACCTGCCTCACGGGGTGACTGGAGGGATTAGATGACATAGTACATACTGATGAGTACGTGCTCAGCACATACGAGGTACGCAGAAAACAGTAGTGGCTATTAGTTTATATTGTTAATAACCATAGCTATTATGGTAGGTACAGTAAGTGCCAAAGAGAAGGGTAGGCGGACCATAAGCAGAAATAGTTGTGAGGAAGGGAGAGTGGAGGAAAGCATCCTAGAGATGGAGGTGCTCAGCTGAGTCGAAAGAAGAGTAGGATGTCACTAAGCAGAGACTTGGAGGTGGAGGCGGCCCTCCCGGCACAGTCAGCAGTGCAAGCAGAATCACAGAGGCCTGCAAGTGTGGGCTGGTTCTGGCCAGATGGAGATGGAAGGAGAGGAGCCTGGAGCACGTTTAGCCCTGATTATGGAAGATGCTATACCAGGGGCTTTAGACTGTTAGGTAGACATTAGTCTGGTTGATCTGGGATAGGGGTGGTCTTTCGCGTGTGGTGGTGTAGTTTTGACAAAGCTTTGTCATCAAATTTCTGTTGTTTTGGGTACTATATGAAGCCTTCTTCAGCAGTCATTTGCCCTGTCTTTCATTACATTCAGCCTACCTAAACGAACCAGCTTTCTCATACAGGGTCTGCACCTGTGTAGTTTGCTAAGGTGGTGTAGGGCTAAAGTTGGCCTTTCCAATATTTGGGTGAATATTTTGTTACAATCGAAAAGGTAGAAAATAGGTCATAAACTAGGTGGTACAGCTCTTACAAAATATCGAAAATTTTAATTATCTTTATATCTGATCACTTAGAATCTAAGTCTTAGATAGTAACTAGAAATAACTTTTGAAAAGAGTTTCCTTTTTTGATAACTGAATGGTGCTTTGAAAAATTTTGTTGAGTTTCGACTATTCCTTCGTGTATTCCACACACACTGGCTGATCCCCTCCTGCTAGGTATTGTGCTGATACATAGATGGGGACACAAAGATGAGAAAATACCACCTCGTTAATCTTGGGGACTCAGGCACCAAGATGGAAACCGGATCCCTGAAGCCACATGGCAAAGCAGGGACTGCCCGGCAGGCCAGGCACAGAGGCACAGGAGCACAGCGTGTGGGGAACTTCTCAGAGCTCAGAAATCACTGCCGTTTTACCGAAGGTTGATTTATGTATTCTCTTTAATTGACCTTCCCGCCCGCAGGTTACCAGGTGACAGGGGTGTTTATGAAGAACTGG 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GGTTCATACCACAAGGGAGGGTTCTCATGCACATGTGCCTAATAATAACAACTATCACAAAAGACTGCAAAAACCACAACTTTACACAAAGGCTATCGTAACCTTCCTCAAAAAAAAAAAAAAAACAAAAAACTTCTGTTGCAAGGACATCTGCCCAGCAACTGCTTGTCCAACCCTGGAGTGCTGTCACCCTTGTTATTGATCTTTGTAGCCAAAGAATTATCTCAAAACAATGATGTGATCCTCATTTTCCCTTTAAAAACCTTTGTCTTCCTAGGCCGGGCACTGTGGCTCACGCGTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAATGCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGCGGAGGTTGCAGTGAGCTAAGATCACGCCACTGCACTCCAGCCTAGTGACCAAGTGAGACTGTCTCAAAAAAATAAATAAATAAAATAAAAACCTTTGTCTTCCTTTACTTCCCTGAATACCCACATAGCTTATTGTGGCATGCATATTCCCATTGCAATGCCCTATTCACAAATGAACATCTTTTTCGTTCAGAGTCTCCCTGTGCTTTAGGTAGACCTTGTCTAGATGCTAACTCGTAGAGAAGAACTCAGCTTGAATATCACCCCTGGGGGATGACCTCCATTCTCTCCTCCTTCCTTTATTCAGCGAGGTTATGAAGCACCTGCCCTGGGCCAGGGGCTTTTCTGGGCATGGAGTAGGAGTGGACAGAACACAAAACCCCTGTCCAACACACCTCACAGACATTAAGGATTGAGTGCTGAGTATGCTTGGAGTCAAACTGTAAAAGATTTGAAGATATTTATTCATGTCATAGTCCCAGGAGATCCTGAGAACACGTGCTCAAACTGGTGGTGCTACAGCTTTTGGTTTCGTACGTTTTAGGGAGACATAAGCCATAAATCAATACATGTAAGATGTAACATTGGTTCCGGAAAGGTGGGACAACTCGAAGGTGGGGTGGGGCTTCCAGGTCATAGGTGGATTCAAAGATTTTCTGGGCCGGGGGCAGTGACTCACACCTGTAATCCCGCCACTTTGGGAGGCTGAGGTGGGCGGATCCCTTGAGGTCAGGAGTGAGAGACCAGCCTGGCAAATACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCTTGGTGGCGGGCGCCTGTAATCGCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTTGGAGGTGAAGGTTGCAGTGAGCCGAGGTCGCGCCCACTACACTCCAGCCTGCGACAGAGCAAAACTCCATCTCAAAAAAATTTAATTAATTAAAAATTAAATTAAATTAAAATACTGTAAAATACTTCGATATCTTTCAGGGCCTGCCATCTGTCATGTCGGTATCCTATTGCTACGGAGAGTCCGCCTAGACAGTCTTAAGTCTGTTTTGACGTTAATGCTGGTCCGAATTCCAAAGGGAGGAGGAGGGTCTAGTGAGGCGGGTCCCACCCGGCCTTTCCCATCAGAGCCCGAACTCGCGGTTCAGGTTCCCTCTAGGACGCCCTTGGCCGAGAGGAGGCCTCCAATGGCTGGCTGGGGGGCTTAGAATTTTATTTTTGGTTTACAGCGCAGAAGAAGAGCAGTGAGGCCGGGGCGCGGGTGGGGAGGGCAAGGCGGCGGCTCAAAAAAAAAGCCAGCCCCTCGCGGCCCGACAGAGTCTCGGCGCCCCGCGGGTCGGTGGAGCCTCAGGGGTGAGCGCAGGCCGGAGACAGGGGAACCCGCCGCGGGACAGGGGAAGGCCGGACGGAACGCGGGTAAGCTGCCGCAGCTTCCGGCCGGGCCACTAGCGCGGACCCTACGGCCGGGGCGGGACTTCCGGCAAGGCGCGGAAGCGGCGGTAGCTGCAGCTGGCGAAGTTGGGCGACTGGCGGAAGCAGGCCTTGCGGCACGTCGTGTGCGCCCTGTCCGGCGGCGTGGACAGCGCCGTGGCCGCGCTGCTGCTGAGGCGGAGAGGTGAGGCGTCCGAGGCTCCCGCCCCCCGCCGAGCGAATGTGTCCCCGGAAACCTGTCCCCGTCCGTCGTGGCGTTGTGCACGTCTCCTCCCTCCCTGGGCCGCTGGTTGCGCGCGGGTCGGCAGGAGGATACCCCGTCCTCTGACTTTGGTTCGGAGGCTCCTCGCCCTCCACCTGTGTAGTCGGAGGTGTGCGCGACTGCAGCTCCGACTACCTGGGAGCAGTTCCGCGCCCCTCTCCACCCACGCGCGCCCACCCACAGTGAGAAGCCGGCGGGCCGGGGTGGGGTGGGGAGGGAAGGGTTTCTCACGGATCTGCGGCGTCCACATTCACCTGTGAGACCGTGGACACTGGTGAGGGGAGCTGGGATCGCCGGGCCGGGGGCCTGACCTCTGCACACGCTGTGGCCGCCCGGTGGGAGGTCCTTGTCCTCCCCACTCAGCAGACTGGACAACTGCCGCGCGGCGGGTCTGCTTGTTCAGCGTCTCCTGTGTTCTCCGCTCGCTGGAGGACAAAGTTTTCTCCAGGAGCATTTGCATTTCTTCCGGCATCTAAACGGAGCCCCACGGGTGCTTAGCATTCCTCGGGCCCGGCGCTGAAATGAGCACTTGTTTAACTTCACCTGTGTGGCTCCCCGCGGGAGGCCTCATTCACAGAGTCACGTTTGTGGAGCTCTGCTTTGCGCCATCTTTGGCTCCTGACCTTGGGCAAGTGAATTAAGCCGTCCCCTGTAAAATTCGGCTAACACCTGCCTCACGGGGTGACTGGAGGGATTAGATGACATAGTACATACTGATGAGTACGTGCTCAGCACATACGAGGTACGCAGAAAACAGTAGTGGCTATTAGTTTATATTGTTAATAACCATAGCTATTATGGTAGGTACAGTAAGTGCCAAAGAGAAGGGTAGGCGGACCATAAGCAGAAATAGTTGTGAGGAAGGGAGAGTGGAGGAAAGCATCCTAGAGATGGAGGTGCTCAGCTGAGTCGAAAGAAGAGTAGGATGTCACTAAGCAGAGACTTGGAGGTGGAGGCGGCCCTCCCGGCACAGTCAGCAGTGCAAGCAGAATCACAGAGGCCTGCAAGTGTGGGCTGGTTCTGGCCAGATGGAGATGGAAGGAGAGGAGCCTGGAGCACGTTTAGCCCTGATTATGGAAGATGCTATACCAGGGGCTTTAGACTGTTAGGTAGACATTAGTCTGGTTGATCTGGGATAGGGGTGGTCTTTCGCGTGTGGTGGTGTAGTTTTGACAAAGCTTTGTCATCAAATTTCTGTTGTTTTGGGTACTATATGAAGCCTTCTTCAGCAGTCATTTGCCCTGTCTTTCATTACATTCAGCCTACCTAAACGAACCAGCTTTCTCATACAGGGTCTGCACCTGTGTAGTTTGCTAAGGTGGTGTAGGGCTAAAGTTGGCCTTTCCAATATTTGGGTGAATATTTTGTTACAATCGAAAAGGTAGAAAATAGGTCATAAACTAGGTGGTACAGCTCTTACAAAATATCGAAAATTTTAATTATCTTTATATCTGATCACTTAGAATCTAAGTCTTAGATAGTAACTAGAAATAACTTTTGAAAAGAGTTTCCTTTTTTGATAACTGAATGGTGCTTTGAAAAATTTTGTTGAGTTTCGACTATTCCTTCGTGTATTCCACACACACTGGCTGATCCCCTCCTGCTAGGTATTGTGCTGATACATAGATGGGGACACAAAGATGAGAAAATACCACCTCGTTAATCTTGGGGACTCAGGCACCAAGATGGAAACCGGATCCCTGAAGCCACATGGCAAAGCAGGGACTGCCCGGCAGGCCAGGCACAGAGGCACAGGAGCACAGCGTGTGGGGAACTTCTCAGAGCTCAGAAATCACTGCCGTTTTACCGAAGGTTGATTTATGTATTCTCTTTAATTGACCTTCCCGCCCGCAGGTTACCAGGTGACAGGGGTGTTTATGAAGAACTGG 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Task1_train_28891 | A genomic change on Chromosome 22 affects TRMU (tRNA mitochondrial 2-thiouridylase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | GGTTCATACCACAAGGGAGGGTTCTCATGCACATGTGCCTAATAATAACAACTATCACAAAAGACTGCAAAAACCACAACTTTACACAAAGGCTATCGTAACCTTCCTCAAAAAAAAAAAAAAAACAAAAAACTTCTGTTGCAAGGACATCTGCCCAGCAACTGCTTGTCCAACCCTGGAGTGCTGTCACCCTTGTTATTGATCTTTGTAGCCAAAGAATTATCTCAAAACAATGATGTGATCCTCATTTTCCCTTTAAAAACCTTTGTCTTCCTAGGCCGGGCACTGTGGCTCACGCGTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAATGCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGCGGAGGTTGCAGTGAGCTAAGATCACGCCACTGCACTCCAGCCTAGTGACCAAGTGAGACTGTCTCAAAAAAATAAATAAATAAAATAAAAACCTTTGTCTTCCTTTACTTCCCTGAATACCCACATAGCTTATTGTGGCATGCATATTCCCATTGCAATGCCCTATTCACAAATGAACATCTTTTTCGTTCAGAGTCTCCCTGTGCTTTAGGTAGACCTTGTCTAGATGCTAACTCGTAGAGAAGAACTCAGCTTGAATATCACCCCTGGGGGATGACCTCCATTCTCTCCTCCTTCCTTTATTCAGCGAGGTTATGAAGCACCTGCCCTGGGCCAGGGGCTTTTCTGGGCATGGAGTAGGAGTGGACAGAACACAAAACCCCTGTCCAACACACCTCACAGACATTAAGGATTGAGTGCTGAGTATGCTTGGAGTCAAACTGTAAAAGATTTGAAGATATTTATTCATGTCATAGTCCCAGGAGATCCTGAGAACACGTGCTCAAACTGGTGGTGCTACAGCTTTTGGTTTCGTACGTTTTAGGGAGACATAAGCCATAAATCAATACATGTAAGATGTAACATTGGTTCCGGAAAGGTGGGACAACTCGAAGGTGGGGTGGGGCTTCCAGGTCATAGGTGGATTCAAAGATTTTCTGGGCCGGGGGCAGTGACTCACACCTGTAATCCCGCCACTTTGGGAGGCTGAGGTGGGCGGATCCCTTGAGGTCAGGAGTGAGAGACCAGCCTGGCAAATACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCTTGGTGGCGGGCGCCTGTAATCGCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTTGGAGGTGAAGGTTGCAGTGAGCCGAGGTCGCGCCCACTACACTCCAGCCTGCGACAGAGCAAAACTCCATCTCAAAAAAATTTAATTAATTAAAAATTAAATTAAATTAAAATACTGTAAAATACTTCGATATCTTTCAGGGCCTGCCATCTGTCATGTCGGTATCCTATTGCTACGGAGAGTCCGCCTAGACAGTCTTAAGTCTGTTTTGACGTTAATGCTGGTCCGAATTCCAAAGGGAGGAGGAGGGTCTAGTGAGGCGGGTCCCACCCGGCCTTTCCCATCAGAGCCCGAACTCGCGGTTCAGGTTCCCTCTAGGACGCCCTTGGCCGAGAGGAGGCCTCCAATGGCTGGCTGGGGGGCTTAGAATTTTATTTTTGGTTTACAGCGCAGAAGAAGAGCAGTGAGGCCGGGGCGCGGGTGGGGAGGGCAAGGCGGCGGCTCAAAAAAAAAGCCAGCCCCTCGCGGCCCGACAGAGTCTCGGCGCCCCGCGGGTCGGTGGAGCCTCAGGGGTGAGCGCAGGCCGGAGACAGGGGAACCCGCCGCGGGACAGGGGAAGGCCGGACGGAACGCGGGTAAGCTGCCGCAGCTTCCGGCCGGGCCACTAGCGCGGACCCTACGGCCGGGGCGGGACTTCCGGCAAGGCGCGGAAGCGGCGGTAGCTGCAGCTGGCGAAGTTGGGCGACTGGCGGATGCAGGCCTTGCGGCACGTCGTGTGCGCCCTGTCCGGCGGCGTGGACAGCGCCGTGGCCGCGCTGCTGCTGAGGCGGAGAGGTGAGGCGTCCGAGGCTCCCGCCCCCCGCCGAGCGAATGTGTCCCCGGAAACCTGTCCCCGTCCGTCGTGGCGTTGTGCACGTCTCCTCCCTCCCTGGGCCGCTGGTTGCGCGCGGGTCGGCAGGAGGATACCCCGTCCTCTGACTTTGGTTCGGAGGCTCCTCGCCCTCCACCTGTGTAGTCGGAGGTGTGCGCGACTGCAGCTCCGACTACCTGGGAGCAGTTCCGCGCCCCTCTCCACCCACGCGCGCCCACCCACAGTGAGAAGCCGGCGGGCCGGGGTGGGGTGGGGAGGGAAGGGTTTCTCACGGATCTGCGGCGTCCACATTCACCTGTGAGACCGTGGACACTGGTGAGGGGAGCTGGGATCGCCGGGCCGGGGGCCTGACCTCTGCACACGCTGTGGCCGCCCGGTGGGAGGTCCTTGTCCTCCCCACTCAGCAGACTGGACAACTGCCGCGCGGCGGGTCTGCTTGTTCAGCGTCTCCTGTGTTCTCCGCTCGCTGGAGGACAAAGTTTTCTCCAGGAGCATTTGCATTTCTTCCGGCATCTAAACGGAGCCCCACGGGTGCTTAGCATTCCTCGGGCCCGGCGCTGAAATGAGCACTTGTTTAACTTCACCTGTGTGGCTCCCCGCGGGAGGCCTCATTCACAGAGTCACGTTTGTGGAGCTCTGCTTTGCGCCATCTTTGGCTCCTGACCTTGGGCAAGTGAATTAAGCCGTCCCCTGTAAAATTCGGCTAACACCTGCCTCACGGGGTGACTGGAGGGATTAGATGACATAGTACATACTGATGAGTACGTGCTCAGCACATACGAGGTACGCAGAAAACAGTAGTGGCTATTAGTTTATATTGTTAATAACCATAGCTATTATGGTAGGTACAGTAAGTGCCAAAGAGAAGGGTAGGCGGACCATAAGCAGAAATAGTTGTGAGGAAGGGAGAGTGGAGGAAAGCATCCTAGAGATGGAGGTGCTCAGCTGAGTCGAAAGAAGAGTAGGATGTCACTAAGCAGAGACTTGGAGGTGGAGGCGGCCCTCCCGGCACAGTCAGCAGTGCAAGCAGAATCACAGAGGCCTGCAAGTGTGGGCTGGTTCTGGCCAGATGGAGATGGAAGGAGAGGAGCCTGGAGCACGTTTAGCCCTGATTATGGAAGATGCTATACCAGGGGCTTTAGACTGTTAGGTAGACATTAGTCTGGTTGATCTGGGATAGGGGTGGTCTTTCGCGTGTGGTGGTGTAGTTTTGACAAAGCTTTGTCATCAAATTTCTGTTGTTTTGGGTACTATATGAAGCCTTCTTCAGCAGTCATTTGCCCTGTCTTTCATTACATTCAGCCTACCTAAACGAACCAGCTTTCTCATACAGGGTCTGCACCTGTGTAGTTTGCTAAGGTGGTGTAGGGCTAAAGTTGGCCTTTCCAATATTTGGGTGAATATTTTGTTACAATCGAAAAGGTAGAAAATAGGTCATAAACTAGGTGGTACAGCTCTTACAAAATATCGAAAATTTTAATTATCTTTATATCTGATCACTTAGAATCTAAGTCTTAGATAGTAACTAGAAATAACTTTTGAAAAGAGTTTCCTTTTTTGATAACTGAATGGTGCTTTGAAAAATTTTGTTGAGTTTCGACTATTCCTTCGTGTATTCCACACACACTGGCTGATCCCCTCCTGCTAGGTATTGTGCTGATACATAGATGGGGACACAAAGATGAGAAAATACCACCTCGTTAATCTTGGGGACTCAGGCACCAAGATGGAAACCGGATCCCTGAAGCCACATGGCAAAGCAGGGACTGCCCGGCAGGCCAGGCACAGAGGCACAGGAGCACAGCGTGTGGGGAACTTCTCAGAGCTCAGAAATCACTGCCGTTTTACCGAAGGTTGATTTATGTATTCTCTTTAATTGACCTTCCCGCCCGCAGGTTACCAGGTGACAGGGGTGTTTATGAAGAACTGG 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GGTTCATACCACAAGGGAGGGTTCTCATGCACATGTGCCTAATAATAACAACTATCACAAAAGACTGCAAAAACCACAACTTTACACAAAGGCTATCGTAACCTTCCTCAAAAAAAAAAAAAAAACAAAAAACTTCTGTTGCAAGGACATCTGCCCAGCAACTGCTTGTCCAACCCTGGAGTGCTGTCACCCTTGTTATTGATCTTTGTAGCCAAAGAATTATCTCAAAACAATGATGTGATCCTCATTTTCCCTTTAAAAACCTTTGTCTTCCTAGGCCGGGCACTGTGGCTCACGCGTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAATGCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGCGGAGGTTGCAGTGAGCTAAGATCACGCCACTGCACTCCAGCCTAGTGACCAAGTGAGACTGTCTCAAAAAAATAAATAAATAAAATAAAAACCTTTGTCTTCCTTTACTTCCCTGAATACCCACATAGCTTATTGTGGCATGCATATTCCCATTGCAATGCCCTATTCACAAATGAACATCTTTTTCGTTCAGAGTCTCCCTGTGCTTTAGGTAGACCTTGTCTAGATGCTAACTCGTAGAGAAGAACTCAGCTTGAATATCACCCCTGGGGGATGACCTCCATTCTCTCCTCCTTCCTTTATTCAGCGAGGTTATGAAGCACCTGCCCTGGGCCAGGGGCTTTTCTGGGCATGGAGTAGGAGTGGACAGAACACAAAACCCCTGTCCAACACACCTCACAGACATTAAGGATTGAGTGCTGAGTATGCTTGGAGTCAAACTGTAAAAGATTTGAAGATATTTATTCATGTCATAGTCCCAGGAGATCCTGAGAACACGTGCTCAAACTGGTGGTGCTACAGCTTTTGGTTTCGTACGTTTTAGGGAGACATAAGCCATAAATCAATACATGTAAGATGTAACATTGGTTCCGGAAAGGTGGGACAACTCGAAGGTGGGGTGGGGCTTCCAGGTCATAGGTGGATTCAAAGATTTTCTGGGCCGGGGGCAGTGACTCACACCTGTAATCCCGCCACTTTGGGAGGCTGAGGTGGGCGGATCCCTTGAGGTCAGGAGTGAGAGACCAGCCTGGCAAATACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCTTGGTGGCGGGCGCCTGTAATCGCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTTGGAGGTGAAGGTTGCAGTGAGCCGAGGTCGCGCCCACTACACTCCAGCCTGCGACAGAGCAAAACTCCATCTCAAAAAAATTTAATTAATTAAAAATTAAATTAAATTAAAATACTGTAAAATACTTCGATATCTTTCAGGGCCTGCCATCTGTCATGTCGGTATCCTATTGCTACGGAGAGTCCGCCTAGACAGTCTTAAGTCTGTTTTGACGTTAATGCTGGTCCGAATTCCAAAGGGAGGAGGAGGGTCTAGTGAGGCGGGTCCCACCCGGCCTTTCCCATCAGAGCCCGAACTCGCGGTTCAGGTTCCCTCTAGGACGCCCTTGGCCGAGAGGAGGCCTCCAATGGCTGGCTGGGGGGCTTAGAATTTTATTTTTGGTTTACAGCGCAGAAGAAGAGCAGTGAGGCCGGGGCGCGGGTGGGGAGGGCAAGGCGGCGGCTCAAAAAAAAAGCCAGCCCCTCGCGGCCCGACAGAGTCTCGGCGCCCCGCGGGTCGGTGGAGCCTCAGGGGTGAGCGCAGGCCGGAGACAGGGGAACCCGCCGCGGGACAGGGGAAGGCCGGACGGAACGCGGGTAAGCTGCCGCAGCTTCCGGCCGGGCCACTAGCGCGGACCCTACGGCCGGGGCGGGACTTCCGGCAAGGCGCGGAAGCGGCGGTAGCTGCAGCTGGCGAAGTTGGGCGACTGGCGGACGCAGGCCTTGCGGCACGTCGTGTGCGCCCTGTCCGGCGGCGTGGACAGCGCCGTGGCCGCGCTGCTGCTGAGGCGGAGAGGTGAGGCGTCCGAGGCTCCCGCCCCCCGCCGAGCGAATGTGTCCCCGGAAACCTGTCCCCGTCCGTCGTGGCGTTGTGCACGTCTCCTCCCTCCCTGGGCCGCTGGTTGCGCGCGGGTCGGCAGGAGGATACCCCGTCCTCTGACTTTGGTTCGGAGGCTCCTCGCCCTCCACCTGTGTAGTCGGAGGTGTGCGCGACTGCAGCTCCGACTACCTGGGAGCAGTTCCGCGCCCCTCTCCACCCACGCGCGCCCACCCACAGTGAGAAGCCGGCGGGCCGGGGTGGGGTGGGGAGGGAAGGGTTTCTCACGGATCTGCGGCGTCCACATTCACCTGTGAGACCGTGGACACTGGTGAGGGGAGCTGGGATCGCCGGGCCGGGGGCCTGACCTCTGCACACGCTGTGGCCGCCCGGTGGGAGGTCCTTGTCCTCCCCACTCAGCAGACTGGACAACTGCCGCGCGGCGGGTCTGCTTGTTCAGCGTCTCCTGTGTTCTCCGCTCGCTGGAGGACAAAGTTTTCTCCAGGAGCATTTGCATTTCTTCCGGCATCTAAACGGAGCCCCACGGGTGCTTAGCATTCCTCGGGCCCGGCGCTGAAATGAGCACTTGTTTAACTTCACCTGTGTGGCTCCCCGCGGGAGGCCTCATTCACAGAGTCACGTTTGTGGAGCTCTGCTTTGCGCCATCTTTGGCTCCTGACCTTGGGCAAGTGAATTAAGCCGTCCCCTGTAAAATTCGGCTAACACCTGCCTCACGGGGTGACTGGAGGGATTAGATGACATAGTACATACTGATGAGTACGTGCTCAGCACATACGAGGTACGCAGAAAACAGTAGTGGCTATTAGTTTATATTGTTAATAACCATAGCTATTATGGTAGGTACAGTAAGTGCCAAAGAGAAGGGTAGGCGGACCATAAGCAGAAATAGTTGTGAGGAAGGGAGAGTGGAGGAAAGCATCCTAGAGATGGAGGTGCTCAGCTGAGTCGAAAGAAGAGTAGGATGTCACTAAGCAGAGACTTGGAGGTGGAGGCGGCCCTCCCGGCACAGTCAGCAGTGCAAGCAGAATCACAGAGGCCTGCAAGTGTGGGCTGGTTCTGGCCAGATGGAGATGGAAGGAGAGGAGCCTGGAGCACGTTTAGCCCTGATTATGGAAGATGCTATACCAGGGGCTTTAGACTGTTAGGTAGACATTAGTCTGGTTGATCTGGGATAGGGGTGGTCTTTCGCGTGTGGTGGTGTAGTTTTGACAAAGCTTTGTCATCAAATTTCTGTTGTTTTGGGTACTATATGAAGCCTTCTTCAGCAGTCATTTGCCCTGTCTTTCATTACATTCAGCCTACCTAAACGAACCAGCTTTCTCATACAGGGTCTGCACCTGTGTAGTTTGCTAAGGTGGTGTAGGGCTAAAGTTGGCCTTTCCAATATTTGGGTGAATATTTTGTTACAATCGAAAAGGTAGAAAATAGGTCATAAACTAGGTGGTACAGCTCTTACAAAATATCGAAAATTTTAATTATCTTTATATCTGATCACTTAGAATCTAAGTCTTAGATAGTAACTAGAAATAACTTTTGAAAAGAGTTTCCTTTTTTGATAACTGAATGGTGCTTTGAAAAATTTTGTTGAGTTTCGACTATTCCTTCGTGTATTCCACACACACTGGCTGATCCCCTCCTGCTAGGTATTGTGCTGATACATAGATGGGGACACAAAGATGAGAAAATACCACCTCGTTAATCTTGGGGACTCAGGCACCAAGATGGAAACCGGATCCCTGAAGCCACATGGCAAAGCAGGGACTGCCCGGCAGGCCAGGCACAGAGGCACAGGAGCACAGCGTGTGGGGAACTTCTCAGAGCTCAGAAATCACTGCCGTTTTACCGAAGGTTGATTTATGTATTCTCTTTAATTGACCTTCCCGCCCGCAGGTTACCAGGTGACAGGGGTGTTTATGAAGAACTGG 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Task1_train_28892 | Consider a variant on Chromosome 22 in gene TRMU (tRNA mitochondrial 2-thiouridylase). Determine its clinical classification and disease relevance. | Pathogenic; Aminoglycoside-induced deafness | GAGCGAATGTGTCCCCGGAAACCTGTCCCCGTCCGTCGTGGCGTTGTGCACGTCTCCTCCCTCCCTGGGCCGCTGGTTGCGCGCGGGTCGGCAGGAGGATACCCCGTCCTCTGACTTTGGTTCGGAGGCTCCTCGCCCTCCACCTGTGTAGTCGGAGGTGTGCGCGACTGCAGCTCCGACTACCTGGGAGCAGTTCCGCGCCCCTCTCCACCCACGCGCGCCCACCCACAGTGAGAAGCCGGCGGGCCGGGGTGGGGTGGGGAGGGAAGGGTTTCTCACGGATCTGCGGCGTCCACATTCACCTGTGAGACCGTGGACACTGGTGAGGGGAGCTGGGATCGCCGGGCCGGGGGCCTGACCTCTGCACACGCTGTGGCCGCCCGGTGGGAGGTCCTTGTCCTCCCCACTCAGCAGACTGGACAACTGCCGCGCGGCGGGTCTGCTTGTTCAGCGTCTCCTGTGTTCTCCGCTCGCTGGAGGACAAAGTTTTCTCCAGGAGCATTTGCATTTCTTCCGGCATCTAAACGGAGCCCCACGGGTGCTTAGCATTCCTCGGGCCCGGCGCTGAAATGAGCACTTGTTTAACTTCACCTGTGTGGCTCCCCGCGGGAGGCCTCATTCACAGAGTCACGTTTGTGGAGCTCTGCTTTGCGCCATCTTTGGCTCCTGACCTTGGGCAAGTGAATTAAGCCGTCCCCTGTAAAATTCGGCTAACACCTGCCTCACGGGGTGACTGGAGGGATTAGATGACATAGTACATACTGATGAGTACGTGCTCAGCACATACGAGGTACGCAGAAAACAGTAGTGGCTATTAGTTTATATTGTTAATAACCATAGCTATTATGGTAGGTACAGTAAGTGCCAAAGAGAAGGGTAGGCGGACCATAAGCAGAAATAGTTGTGAGGAAGGGAGAGTGGAGGAAAGCATCCTAGAGATGGAGGTGCTCAGCTGAGTCGAAAGAAGAGTAGGATGTCACTAAGCAGAGACTTGGAGGTGGAGGCGGCCCTCCCGGCACAGTCAGCAGTGCAAGCAGAATCACAGAGGCCTGCAAGTGTGGGCTGGTTCTGGCCAGATGGAGATGGAAGGAGAGGAGCCTGGAGCACGTTTAGCCCTGATTATGGAAGATGCTATACCAGGGGCTTTAGACTGTTAGGTAGACATTAGTCTGGTTGATCTGGGATAGGGGTGGTCTTTCGCGTGTGGTGGTGTAGTTTTGACAAAGCTTTGTCATCAAATTTCTGTTGTTTTGGGTACTATATGAAGCCTTCTTCAGCAGTCATTTGCCCTGTCTTTCATTACATTCAGCCTACCTAAACGAACCAGCTTTCTCATACAGGGTCTGCACCTGTGTAGTTTGCTAAGGTGGTGTAGGGCTAAAGTTGGCCTTTCCAATATTTGGGTGAATATTTTGTTACAATCGAAAAGGTAGAAAATAGGTCATAAACTAGGTGGTACAGCTCTTACAAAATATCGAAAATTTTAATTATCTTTATATCTGATCACTTAGAATCTAAGTCTTAGATAGTAACTAGAAATAACTTTTGAAAAGAGTTTCCTTTTTTGATAACTGAATGGTGCTTTGAAAAATTTTGTTGAGTTTCGACTATTCCTTCGTGTATTCCACACACACTGGCTGATCCCCTCCTGCTAGGTATTGTGCTGATACATAGATGGGGACACAAAGATGAGAAAATACCACCTCGTTAATCTTGGGGACTCAGGCACCAAGATGGAAACCGGATCCCTGAAGCCACATGGCAAAGCAGGGACTGCCCGGCAGGCCAGGCACAGAGGCACAGGAGCACAGCGTGTGGGGAACTTCTCAGAGCTCAGAAATCACTGCCGTTTTACCGAAGGTTGATTTATGTATTCTCTTTAATTGACCTTCCCGCCCGCAGGTTACCAGGTGACAGGGGTGTTTATGAAGAACTGGGACTCACTGGATGAACATGGGGTCTGTACTGCCGACAAAGACTGTGAAGATGCTTACAGAGTTTGCCAGATCTTAGACATCCCTTTCCATCAAGTGTCCTACGTAAAGGAGTATTGGAATGATGTGTTCAGGTGAGTGCGGGTCACAGCACAAAGGAAGCTTCCTCACACTGTGGATCCTTGCAGTGGAAGGATCCGGTAACCAGCCAGACCGACGCCTGTGCTGCAGCCCAGCGCTCTCCCTCCACGGTGGTGCTGAAGACTGCAAGAGGCCTCAGCCACCCTCGGGGCTCTGTGTTAGAGGCGAGGCCTGGACCCCACAGCACACCCAGCTCTCTCACTCCTGTCATTTTGCCACTTGCCTGAAGTCTCTTTAATGCTTTCTTGGACCTTGAGCTGTTTCTGTTGCCCAGTTAGGATAGGGGAGCTAAGGCTGAGGGCTCCCCTGGAAGGTGAGCACCAATGCCTGTGTGCTATGTGGGTCAGCGATTAGGGGATTTCTGAGAAAGAGGTGATACATGGCCTGTGCCTCTGAAAACAAGAAACAAACAAAAACTTTTCTAAAATCCAATATAATCTCAATAATTAAGTGCTGTGTGCTAGGCGTGTGCCACATCTAGGAACATTAAGATGTCTTCACTGTGACCTGGCTCTGTAGGAGTTTGCGGTCTAGTTGGGAGGACATTATCTTCACAAGAGGTGACAGTGATGCGTGGCACGCAGGAAGTACCAGTGATGCTATCAGTCACTGAACCCAGAGGAGGGAGAAACTTGCAGTGTGGAGTAATCAAGAAGGCTTCACCGGAGAGGAGGGGTTGCAAACAAAGTTGTAGAGAAGGGACTCCAAATGGGGTAACGAGAGCAGCGTGAAGGGGAGAAGAAATGCTGATTGTGTATTTCAGGACCGTTGTAAAGTTTGGCTGGACTTTTGTTCCTGCAGTGGAAGGAGTGTAGGGCTCATCCTCTGGTGAGCCCTGACTGTGATGAATGTCGGGCAGTTGTCGAAGGCGTCTGACACAGCAGGCCATGTGCGCGGGACAGGCTGCCCCTGCCTGAGTGGGCTTTAGGGGCAGAAGAGCCTTGGGTTGAGTCCTGACTGTAGCTTATTATATGACCTTGGGCAATTTACTTGACTTTGTTTTTTTAATTGAAAAAAATTCTCTTTTTTTCCTGCCAACAAAGACCCAGAAGAGATACTTGACTTTTCTAAGCCCCAATTTTCTCATCTTTAAAATGAGGATAACACTGATGCCTCACAGGGTTATGAAAGAATTGAGATTAGGTTCTAGTATGTATGCCTGGTATATTAGTAAGCAGTCAATAAACATAGCTGTTTTTCTTTTCTATTTTTTTTTGAGACAGAGCCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACATCTGCCTCCCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCATGCACCACCACGCCCGGATAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCGGGCTAGTCTCAGACTCCTGACCTCAGAAGATCCACTCGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCAGCCTGCTATTTTTATTTTCATTATTAAAAAGATGAGTCTGGGGAGCTAAGCTATGAGGACGCAAAGGCATAAAAATGATATAATGGACTCTGGGGTGAGGGATAAAAGACTACACATCGGGTACAATGTCCACTGCTTGGGTGACGGGTACACCAAAATCTCAGAAGTCACCACTGAAGAACTTATCCATGTGACCAAATACCAGCTGTTGCCCAAAAAACCATTGAAATAACAATAAAACGAAATTTAGAGAGATTAAGTAAATTGACTATGGTCACCTAAATAATCAACGGAAGAGCTTGAATATGAACCCTCTGTGACTCTATGCTATAACATATGGGTGTCGTATATATTAACAACATGGACAAAACTGATGGCTGAATTTTCCTGGGGAAAGTTACCTGTAGAATGCATGATAAATGCATTAAAAACTTATCTGTAGAATGCATGATAAATGCATTAAAAACTTCTGCAGTTTTCTCGGGGACATAAGAAAAAAAAAAGAGTGTGGCGGCCAAATACAGGAT | GAGCGAATGTGTCCCCGGAAACCTGTCCCCGTCCGTCGTGGCGTTGTGCACGTCTCCTCCCTCCCTGGGCCGCTGGTTGCGCGCGGGTCGGCAGGAGGATACCCCGTCCTCTGACTTTGGTTCGGAGGCTCCTCGCCCTCCACCTGTGTAGTCGGAGGTGTGCGCGACTGCAGCTCCGACTACCTGGGAGCAGTTCCGCGCCCCTCTCCACCCACGCGCGCCCACCCACAGTGAGAAGCCGGCGGGCCGGGGTGGGGTGGGGAGGGAAGGGTTTCTCACGGATCTGCGGCGTCCACATTCACCTGTGAGACCGTGGACACTGGTGAGGGGAGCTGGGATCGCCGGGCCGGGGGCCTGACCTCTGCACACGCTGTGGCCGCCCGGTGGGAGGTCCTTGTCCTCCCCACTCAGCAGACTGGACAACTGCCGCGCGGCGGGTCTGCTTGTTCAGCGTCTCCTGTGTTCTCCGCTCGCTGGAGGACAAAGTTTTCTCCAGGAGCATTTGCATTTCTTCCGGCATCTAAACGGAGCCCCACGGGTGCTTAGCATTCCTCGGGCCCGGCGCTGAAATGAGCACTTGTTTAACTTCACCTGTGTGGCTCCCCGCGGGAGGCCTCATTCACAGAGTCACGTTTGTGGAGCTCTGCTTTGCGCCATCTTTGGCTCCTGACCTTGGGCAAGTGAATTAAGCCGTCCCCTGTAAAATTCGGCTAACACCTGCCTCACGGGGTGACTGGAGGGATTAGATGACATAGTACATACTGATGAGTACGTGCTCAGCACATACGAGGTACGCAGAAAACAGTAGTGGCTATTAGTTTATATTGTTAATAACCATAGCTATTATGGTAGGTACAGTAAGTGCCAAAGAGAAGGGTAGGCGGACCATAAGCAGAAATAGTTGTGAGGAAGGGAGAGTGGAGGAAAGCATCCTAGAGATGGAGGTGCTCAGCTGAGTCGAAAGAAGAGTAGGATGTCACTAAGCAGAGACTTGGAGGTGGAGGCGGCCCTCCCGGCACAGTCAGCAGTGCAAGCAGAATCACAGAGGCCTGCAAGTGTGGGCTGGTTCTGGCCAGATGGAGATGGAAGGAGAGGAGCCTGGAGCACGTTTAGCCCTGATTATGGAAGATGCTATACCAGGGGCTTTAGACTGTTAGGTAGACATTAGTCTGGTTGATCTGGGATAGGGGTGGTCTTTCGCGTGTGGTGGTGTAGTTTTGACAAAGCTTTGTCATCAAATTTCTGTTGTTTTGGGTACTATATGAAGCCTTCTTCAGCAGTCATTTGCCCTGTCTTTCATTACATTCAGCCTACCTAAACGAACCAGCTTTCTCATACAGGGTCTGCACCTGTGTAGTTTGCTAAGGTGGTGTAGGGCTAAAGTTGGCCTTTCCAATATTTGGGTGAATATTTTGTTACAATCGAAAAGGTAGAAAATAGGTCATAAACTAGGTGGTACAGCTCTTACAAAATATCGAAAATTTTAATTATCTTTATATCTGATCACTTAGAATCTAAGTCTTAGATAGTAACTAGAAATAACTTTTGAAAAGAGTTTCCTTTTTTGATAACTGAATGGTGCTTTGAAAAATTTTGTTGAGTTTCGACTATTCCTTCGTGTATTCCACACACACTGGCTGATCCCCTCCTGCTAGGTATTGTGCTGATACATAGATGGGGACACAAAGATGAGAAAATACCACCTCGTTAATCTTGGGGACTCAGGCACCAAGATGGAAACCGGATCCCTGAAGCCACATGGCAAAGCAGGGACTGCCCGGCAGGCCAGGCACAGAGGCACAGGAGCACAGCGTGTGGGGAACTTCTCAGAGCTCAGAAATCACTGCCGTTTTACCGAAGGTTGATTTATGTATTCTCTTTAATTGACCTTCCCGCCCGCAGGTTACCAGGTGACAGGGGTGTTTATGAAGAACTGGGACTCACTGGATGAACATGGGGTCTGTACTGCCGACAAAGACTGTGAAGATGCTTACAGAGTTTGCCAGATCTTAGACATCCCTTTCCATCAAGTGTCCTACGTAAAGGAGCATTGGAATGATGTGTTCAGGTGAGTGCGGGTCACAGCACAAAGGAAGCTTCCTCACACTGTGGATCCTTGCAGTGGAAGGATCCGGTAACCAGCCAGACCGACGCCTGTGCTGCAGCCCAGCGCTCTCCCTCCACGGTGGTGCTGAAGACTGCAAGAGGCCTCAGCCACCCTCGGGGCTCTGTGTTAGAGGCGAGGCCTGGACCCCACAGCACACCCAGCTCTCTCACTCCTGTCATTTTGCCACTTGCCTGAAGTCTCTTTAATGCTTTCTTGGACCTTGAGCTGTTTCTGTTGCCCAGTTAGGATAGGGGAGCTAAGGCTGAGGGCTCCCCTGGAAGGTGAGCACCAATGCCTGTGTGCTATGTGGGTCAGCGATTAGGGGATTTCTGAGAAAGAGGTGATACATGGCCTGTGCCTCTGAAAACAAGAAACAAACAAAAACTTTTCTAAAATCCAATATAATCTCAATAATTAAGTGCTGTGTGCTAGGCGTGTGCCACATCTAGGAACATTAAGATGTCTTCACTGTGACCTGGCTCTGTAGGAGTTTGCGGTCTAGTTGGGAGGACATTATCTTCACAAGAGGTGACAGTGATGCGTGGCACGCAGGAAGTACCAGTGATGCTATCAGTCACTGAACCCAGAGGAGGGAGAAACTTGCAGTGTGGAGTAATCAAGAAGGCTTCACCGGAGAGGAGGGGTTGCAAACAAAGTTGTAGAGAAGGGACTCCAAATGGGGTAACGAGAGCAGCGTGAAGGGGAGAAGAAATGCTGATTGTGTATTTCAGGACCGTTGTAAAGTTTGGCTGGACTTTTGTTCCTGCAGTGGAAGGAGTGTAGGGCTCATCCTCTGGTGAGCCCTGACTGTGATGAATGTCGGGCAGTTGTCGAAGGCGTCTGACACAGCAGGCCATGTGCGCGGGACAGGCTGCCCCTGCCTGAGTGGGCTTTAGGGGCAGAAGAGCCTTGGGTTGAGTCCTGACTGTAGCTTATTATATGACCTTGGGCAATTTACTTGACTTTGTTTTTTTAATTGAAAAAAATTCTCTTTTTTTCCTGCCAACAAAGACCCAGAAGAGATACTTGACTTTTCTAAGCCCCAATTTTCTCATCTTTAAAATGAGGATAACACTGATGCCTCACAGGGTTATGAAAGAATTGAGATTAGGTTCTAGTATGTATGCCTGGTATATTAGTAAGCAGTCAATAAACATAGCTGTTTTTCTTTTCTATTTTTTTTTGAGACAGAGCCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACATCTGCCTCCCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCATGCACCACCACGCCCGGATAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCGGGCTAGTCTCAGACTCCTGACCTCAGAAGATCCACTCGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCAGCCTGCTATTTTTATTTTCATTATTAAAAAGATGAGTCTGGGGAGCTAAGCTATGAGGACGCAAAGGCATAAAAATGATATAATGGACTCTGGGGTGAGGGATAAAAGACTACACATCGGGTACAATGTCCACTGCTTGGGTGACGGGTACACCAAAATCTCAGAAGTCACCACTGAAGAACTTATCCATGTGACCAAATACCAGCTGTTGCCCAAAAAACCATTGAAATAACAATAAAACGAAATTTAGAGAGATTAAGTAAATTGACTATGGTCACCTAAATAATCAACGGAAGAGCTTGAATATGAACCCTCTGTGACTCTATGCTATAACATATGGGTGTCGTATATATTAACAACATGGACAAAACTGATGGCTGAATTTTCCTGGGGAAAGTTACCTGTAGAATGCATGATAAATGCATTAAAAACTTATCTGTAGAATGCATGATAAATGCATTAAAAACTTCTGCAGTTTTCTCGGGGACATAAGAAAAAAAAAAGAGTGTGGCGGCCAAATACAGGAT |
Task1_train_28893 | Here is a variant affecting TRMU (tRNA mitochondrial 2-thiouridylase) on Chromosome 22. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | GAGCGAATGTGTCCCCGGAAACCTGTCCCCGTCCGTCGTGGCGTTGTGCACGTCTCCTCCCTCCCTGGGCCGCTGGTTGCGCGCGGGTCGGCAGGAGGATACCCCGTCCTCTGACTTTGGTTCGGAGGCTCCTCGCCCTCCACCTGTGTAGTCGGAGGTGTGCGCGACTGCAGCTCCGACTACCTGGGAGCAGTTCCGCGCCCCTCTCCACCCACGCGCGCCCACCCACAGTGAGAAGCCGGCGGGCCGGGGTGGGGTGGGGAGGGAAGGGTTTCTCACGGATCTGCGGCGTCCACATTCACCTGTGAGACCGTGGACACTGGTGAGGGGAGCTGGGATCGCCGGGCCGGGGGCCTGACCTCTGCACACGCTGTGGCCGCCCGGTGGGAGGTCCTTGTCCTCCCCACTCAGCAGACTGGACAACTGCCGCGCGGCGGGTCTGCTTGTTCAGCGTCTCCTGTGTTCTCCGCTCGCTGGAGGACAAAGTTTTCTCCAGGAGCATTTGCATTTCTTCCGGCATCTAAACGGAGCCCCACGGGTGCTTAGCATTCCTCGGGCCCGGCGCTGAAATGAGCACTTGTTTAACTTCACCTGTGTGGCTCCCCGCGGGAGGCCTCATTCACAGAGTCACGTTTGTGGAGCTCTGCTTTGCGCCATCTTTGGCTCCTGACCTTGGGCAAGTGAATTAAGCCGTCCCCTGTAAAATTCGGCTAACACCTGCCTCACGGGGTGACTGGAGGGATTAGATGACATAGTACATACTGATGAGTACGTGCTCAGCACATACGAGGTACGCAGAAAACAGTAGTGGCTATTAGTTTATATTGTTAATAACCATAGCTATTATGGTAGGTACAGTAAGTGCCAAAGAGAAGGGTAGGCGGACCATAAGCAGAAATAGTTGTGAGGAAGGGAGAGTGGAGGAAAGCATCCTAGAGATGGAGGTGCTCAGCTGAGTCGAAAGAAGAGTAGGATGTCACTAAGCAGAGACTTGGAGGTGGAGGCGGCCCTCCCGGCACAGTCAGCAGTGCAAGCAGAATCACAGAGGCCTGCAAGTGTGGGCTGGTTCTGGCCAGATGGAGATGGAAGGAGAGGAGCCTGGAGCACGTTTAGCCCTGATTATGGAAGATGCTATACCAGGGGCTTTAGACTGTTAGGTAGACATTAGTCTGGTTGATCTGGGATAGGGGTGGTCTTTCGCGTGTGGTGGTGTAGTTTTGACAAAGCTTTGTCATCAAATTTCTGTTGTTTTGGGTACTATATGAAGCCTTCTTCAGCAGTCATTTGCCCTGTCTTTCATTACATTCAGCCTACCTAAACGAACCAGCTTTCTCATACAGGGTCTGCACCTGTGTAGTTTGCTAAGGTGGTGTAGGGCTAAAGTTGGCCTTTCCAATATTTGGGTGAATATTTTGTTACAATCGAAAAGGTAGAAAATAGGTCATAAACTAGGTGGTACAGCTCTTACAAAATATCGAAAATTTTAATTATCTTTATATCTGATCACTTAGAATCTAAGTCTTAGATAGTAACTAGAAATAACTTTTGAAAAGAGTTTCCTTTTTTGATAACTGAATGGTGCTTTGAAAAATTTTGTTGAGTTTCGACTATTCCTTCGTGTATTCCACACACACTGGCTGATCCCCTCCTGCTAGGTATTGTGCTGATACATAGATGGGGACACAAAGATGAGAAAATACCACCTCGTTAATCTTGGGGACTCAGGCACCAAGATGGAAACCGGATCCCTGAAGCCACATGGCAAAGCAGGGACTGCCCGGCAGGCCAGGCACAGAGGCACAGGAGCACAGCGTGTGGGGAACTTCTCAGAGCTCAGAAATCACTGCCGTTTTACCGAAGGTTGATTTATGTATTCTCTTTAATTGACCTTCCCGCCCGCAGGTTACCAGGTGACAGGGGTGTTTATGAAGAACTGGGACTCACTGGATGAACATGGGGTCTGTACTGCCGACAAAGACTGTGAAGATGCTTACAGAGTTTGCCAGATCTTAGACATCCCTTTCCATCAAGTGTCCTACGTAAAGGAGTATTGGAATGATGTGTTCAGGTGAGTGCGGGTCACAGCACAAAGGAAGCTTCCTCACACTGTGGATCCTTGCAGTGGAAGGATCCGGTAACCAGCCAGACCGACGCCTGTGCTGCAGCCCAGCGCTCTCCCTCCACGGTGGTGCTGAAGACTGCAAGAGGCCTCAGCCACCCTCGGGGCTCTGTGTTAGAGGCGAGGCCTGGACCCCACAGCACACCCAGCTCTCTCACTCCTGTCATTTTGCCACTTGCCTGAAGTCTCTTTAATGCTTTCTTGGACCTTGAGCTGTTTCTGTTGCCCAGTTAGGATAGGGGAGCTAAGGCTGAGGGCTCCCCTGGAAGGTGAGCACCAATGCCTGTGTGCTATGTGGGTCAGCGATTAGGGGATTTCTGAGAAAGAGGTGATACATGGCCTGTGCCTCTGAAAACAAGAAACAAACAAAAACTTTTCTAAAATCCAATATAATCTCAATAATTAAGTGCTGTGTGCTAGGCGTGTGCCACATCTAGGAACATTAAGATGTCTTCACTGTGACCTGGCTCTGTAGGAGTTTGCGGTCTAGTTGGGAGGACATTATCTTCACAAGAGGTGACAGTGATGCGTGGCACGCAGGAAGTACCAGTGATGCTATCAGTCACTGAACCCAGAGGAGGGAGAAACTTGCAGTGTGGAGTAATCAAGAAGGCTTCACCGGAGAGGAGGGGTTGCAAACAAAGTTGTAGAGAAGGGACTCCAAATGGGGTAACGAGAGCAGCGTGAAGGGGAGAAGAAATGCTGATTGTGTATTTCAGGACCGTTGTAAAGTTTGGCTGGACTTTTGTTCCTGCAGTGGAAGGAGTGTAGGGCTCATCCTCTGGTGAGCCCTGACTGTGATGAATGTCGGGCAGTTGTCGAAGGCGTCTGACACAGCAGGCCATGTGCGCGGGACAGGCTGCCCCTGCCTGAGTGGGCTTTAGGGGCAGAAGAGCCTTGGGTTGAGTCCTGACTGTAGCTTATTATATGACCTTGGGCAATTTACTTGACTTTGTTTTTTTAATTGAAAAAAATTCTCTTTTTTTCCTGCCAACAAAGACCCAGAAGAGATACTTGACTTTTCTAAGCCCCAATTTTCTCATCTTTAAAATGAGGATAACACTGATGCCTCACAGGGTTATGAAAGAATTGAGATTAGGTTCTAGTATGTATGCCTGGTATATTAGTAAGCAGTCAATAAACATAGCTGTTTTTCTTTTCTATTTTTTTTTGAGACAGAGCCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACATCTGCCTCCCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCATGCACCACCACGCCCGGATAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCGGGCTAGTCTCAGACTCCTGACCTCAGAAGATCCACTCGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCAGCCTGCTATTTTTATTTTCATTATTAAAAAGATGAGTCTGGGGAGCTAAGCTATGAGGACGCAAAGGCATAAAAATGATATAATGGACTCTGGGGTGAGGGATAAAAGACTACACATCGGGTACAATGTCCACTGCTTGGGTGACGGGTACACCAAAATCTCAGAAGTCACCACTGAAGAACTTATCCATGTGACCAAATACCAGCTGTTGCCCAAAAAACCATTGAAATAACAATAAAACGAAATTTAGAGAGATTAAGTAAATTGACTATGGTCACCTAAATAATCAACGGAAGAGCTTGAATATGAACCCTCTGTGACTCTATGCTATAACATATGGGTGTCGTATATATTAACAACATGGACAAAACTGATGGCTGAATTTTCCTGGGGAAAGTTACCTGTAGAATGCATGATAAATGCATTAAAAACTTATCTGTAGAATGCATGATAAATGCATTAAAAACTTCTGCAGTTTTCTCGGGGACATAAGAAAAAAAAAAGAGTGTGGCGGCCAAATACAGGAT | GAGCGAATGTGTCCCCGGAAACCTGTCCCCGTCCGTCGTGGCGTTGTGCACGTCTCCTCCCTCCCTGGGCCGCTGGTTGCGCGCGGGTCGGCAGGAGGATACCCCGTCCTCTGACTTTGGTTCGGAGGCTCCTCGCCCTCCACCTGTGTAGTCGGAGGTGTGCGCGACTGCAGCTCCGACTACCTGGGAGCAGTTCCGCGCCCCTCTCCACCCACGCGCGCCCACCCACAGTGAGAAGCCGGCGGGCCGGGGTGGGGTGGGGAGGGAAGGGTTTCTCACGGATCTGCGGCGTCCACATTCACCTGTGAGACCGTGGACACTGGTGAGGGGAGCTGGGATCGCCGGGCCGGGGGCCTGACCTCTGCACACGCTGTGGCCGCCCGGTGGGAGGTCCTTGTCCTCCCCACTCAGCAGACTGGACAACTGCCGCGCGGCGGGTCTGCTTGTTCAGCGTCTCCTGTGTTCTCCGCTCGCTGGAGGACAAAGTTTTCTCCAGGAGCATTTGCATTTCTTCCGGCATCTAAACGGAGCCCCACGGGTGCTTAGCATTCCTCGGGCCCGGCGCTGAAATGAGCACTTGTTTAACTTCACCTGTGTGGCTCCCCGCGGGAGGCCTCATTCACAGAGTCACGTTTGTGGAGCTCTGCTTTGCGCCATCTTTGGCTCCTGACCTTGGGCAAGTGAATTAAGCCGTCCCCTGTAAAATTCGGCTAACACCTGCCTCACGGGGTGACTGGAGGGATTAGATGACATAGTACATACTGATGAGTACGTGCTCAGCACATACGAGGTACGCAGAAAACAGTAGTGGCTATTAGTTTATATTGTTAATAACCATAGCTATTATGGTAGGTACAGTAAGTGCCAAAGAGAAGGGTAGGCGGACCATAAGCAGAAATAGTTGTGAGGAAGGGAGAGTGGAGGAAAGCATCCTAGAGATGGAGGTGCTCAGCTGAGTCGAAAGAAGAGTAGGATGTCACTAAGCAGAGACTTGGAGGTGGAGGCGGCCCTCCCGGCACAGTCAGCAGTGCAAGCAGAATCACAGAGGCCTGCAAGTGTGGGCTGGTTCTGGCCAGATGGAGATGGAAGGAGAGGAGCCTGGAGCACGTTTAGCCCTGATTATGGAAGATGCTATACCAGGGGCTTTAGACTGTTAGGTAGACATTAGTCTGGTTGATCTGGGATAGGGGTGGTCTTTCGCGTGTGGTGGTGTAGTTTTGACAAAGCTTTGTCATCAAATTTCTGTTGTTTTGGGTACTATATGAAGCCTTCTTCAGCAGTCATTTGCCCTGTCTTTCATTACATTCAGCCTACCTAAACGAACCAGCTTTCTCATACAGGGTCTGCACCTGTGTAGTTTGCTAAGGTGGTGTAGGGCTAAAGTTGGCCTTTCCAATATTTGGGTGAATATTTTGTTACAATCGAAAAGGTAGAAAATAGGTCATAAACTAGGTGGTACAGCTCTTACAAAATATCGAAAATTTTAATTATCTTTATATCTGATCACTTAGAATCTAAGTCTTAGATAGTAACTAGAAATAACTTTTGAAAAGAGTTTCCTTTTTTGATAACTGAATGGTGCTTTGAAAAATTTTGTTGAGTTTCGACTATTCCTTCGTGTATTCCACACACACTGGCTGATCCCCTCCTGCTAGGTATTGTGCTGATACATAGATGGGGACACAAAGATGAGAAAATACCACCTCGTTAATCTTGGGGACTCAGGCACCAAGATGGAAACCGGATCCCTGAAGCCACATGGCAAAGCAGGGACTGCCCGGCAGGCCAGGCACAGAGGCACAGGAGCACAGCGTGTGGGGAACTTCTCAGAGCTCAGAAATCACTGCCGTTTTACCGAAGGTTGATTTATGTATTCTCTTTAATTGACCTTCCCGCCCGCAGGTTACCAGGTGACAGGGGTGTTTATGAAGAACTGGGACTCACTGGATGAACATGGGGTCTGTACTGCCGACAAAGACTGTGAAGATGCTTACAGAGTTTGCCAGATCTTAGACATCCCTTTCCATCAAGTGTCCTACGTAAAGGAGCATTGGAATGATGTGTTCAGGTGAGTGCGGGTCACAGCACAAAGGAAGCTTCCTCACACTGTGGATCCTTGCAGTGGAAGGATCCGGTAACCAGCCAGACCGACGCCTGTGCTGCAGCCCAGCGCTCTCCCTCCACGGTGGTGCTGAAGACTGCAAGAGGCCTCAGCCACCCTCGGGGCTCTGTGTTAGAGGCGAGGCCTGGACCCCACAGCACACCCAGCTCTCTCACTCCTGTCATTTTGCCACTTGCCTGAAGTCTCTTTAATGCTTTCTTGGACCTTGAGCTGTTTCTGTTGCCCAGTTAGGATAGGGGAGCTAAGGCTGAGGGCTCCCCTGGAAGGTGAGCACCAATGCCTGTGTGCTATGTGGGTCAGCGATTAGGGGATTTCTGAGAAAGAGGTGATACATGGCCTGTGCCTCTGAAAACAAGAAACAAACAAAAACTTTTCTAAAATCCAATATAATCTCAATAATTAAGTGCTGTGTGCTAGGCGTGTGCCACATCTAGGAACATTAAGATGTCTTCACTGTGACCTGGCTCTGTAGGAGTTTGCGGTCTAGTTGGGAGGACATTATCTTCACAAGAGGTGACAGTGATGCGTGGCACGCAGGAAGTACCAGTGATGCTATCAGTCACTGAACCCAGAGGAGGGAGAAACTTGCAGTGTGGAGTAATCAAGAAGGCTTCACCGGAGAGGAGGGGTTGCAAACAAAGTTGTAGAGAAGGGACTCCAAATGGGGTAACGAGAGCAGCGTGAAGGGGAGAAGAAATGCTGATTGTGTATTTCAGGACCGTTGTAAAGTTTGGCTGGACTTTTGTTCCTGCAGTGGAAGGAGTGTAGGGCTCATCCTCTGGTGAGCCCTGACTGTGATGAATGTCGGGCAGTTGTCGAAGGCGTCTGACACAGCAGGCCATGTGCGCGGGACAGGCTGCCCCTGCCTGAGTGGGCTTTAGGGGCAGAAGAGCCTTGGGTTGAGTCCTGACTGTAGCTTATTATATGACCTTGGGCAATTTACTTGACTTTGTTTTTTTAATTGAAAAAAATTCTCTTTTTTTCCTGCCAACAAAGACCCAGAAGAGATACTTGACTTTTCTAAGCCCCAATTTTCTCATCTTTAAAATGAGGATAACACTGATGCCTCACAGGGTTATGAAAGAATTGAGATTAGGTTCTAGTATGTATGCCTGGTATATTAGTAAGCAGTCAATAAACATAGCTGTTTTTCTTTTCTATTTTTTTTTGAGACAGAGCCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACATCTGCCTCCCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCATGCACCACCACGCCCGGATAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCGGGCTAGTCTCAGACTCCTGACCTCAGAAGATCCACTCGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCAGCCTGCTATTTTTATTTTCATTATTAAAAAGATGAGTCTGGGGAGCTAAGCTATGAGGACGCAAAGGCATAAAAATGATATAATGGACTCTGGGGTGAGGGATAAAAGACTACACATCGGGTACAATGTCCACTGCTTGGGTGACGGGTACACCAAAATCTCAGAAGTCACCACTGAAGAACTTATCCATGTGACCAAATACCAGCTGTTGCCCAAAAAACCATTGAAATAACAATAAAACGAAATTTAGAGAGATTAAGTAAATTGACTATGGTCACCTAAATAATCAACGGAAGAGCTTGAATATGAACCCTCTGTGACTCTATGCTATAACATATGGGTGTCGTATATATTAACAACATGGACAAAACTGATGGCTGAATTTTCCTGGGGAAAGTTACCTGTAGAATGCATGATAAATGCATTAAAAACTTATCTGTAGAATGCATGATAAATGCATTAAAAACTTCTGCAGTTTTCTCGGGGACATAAGAAAAAAAAAAGAGTGTGGCGGCCAAATACAGGAT |
Task1_train_28894 | Consider this mutation in TRMU (tRNA mitochondrial 2-thiouridylase) on Chromosome 22. Is this a benign change or a disease-causing variant? | Pathogenic; Aminoglycoside-induced deafness | GAGCGAATGTGTCCCCGGAAACCTGTCCCCGTCCGTCGTGGCGTTGTGCACGTCTCCTCCCTCCCTGGGCCGCTGGTTGCGCGCGGGTCGGCAGGAGGATACCCCGTCCTCTGACTTTGGTTCGGAGGCTCCTCGCCCTCCACCTGTGTAGTCGGAGGTGTGCGCGACTGCAGCTCCGACTACCTGGGAGCAGTTCCGCGCCCCTCTCCACCCACGCGCGCCCACCCACAGTGAGAAGCCGGCGGGCCGGGGTGGGGTGGGGAGGGAAGGGTTTCTCACGGATCTGCGGCGTCCACATTCACCTGTGAGACCGTGGACACTGGTGAGGGGAGCTGGGATCGCCGGGCCGGGGGCCTGACCTCTGCACACGCTGTGGCCGCCCGGTGGGAGGTCCTTGTCCTCCCCACTCAGCAGACTGGACAACTGCCGCGCGGCGGGTCTGCTTGTTCAGCGTCTCCTGTGTTCTCCGCTCGCTGGAGGACAAAGTTTTCTCCAGGAGCATTTGCATTTCTTCCGGCATCTAAACGGAGCCCCACGGGTGCTTAGCATTCCTCGGGCCCGGCGCTGAAATGAGCACTTGTTTAACTTCACCTGTGTGGCTCCCCGCGGGAGGCCTCATTCACAGAGTCACGTTTGTGGAGCTCTGCTTTGCGCCATCTTTGGCTCCTGACCTTGGGCAAGTGAATTAAGCCGTCCCCTGTAAAATTCGGCTAACACCTGCCTCACGGGGTGACTGGAGGGATTAGATGACATAGTACATACTGATGAGTACGTGCTCAGCACATACGAGGTACGCAGAAAACAGTAGTGGCTATTAGTTTATATTGTTAATAACCATAGCTATTATGGTAGGTACAGTAAGTGCCAAAGAGAAGGGTAGGCGGACCATAAGCAGAAATAGTTGTGAGGAAGGGAGAGTGGAGGAAAGCATCCTAGAGATGGAGGTGCTCAGCTGAGTCGAAAGAAGAGTAGGATGTCACTAAGCAGAGACTTGGAGGTGGAGGCGGCCCTCCCGGCACAGTCAGCAGTGCAAGCAGAATCACAGAGGCCTGCAAGTGTGGGCTGGTTCTGGCCAGATGGAGATGGAAGGAGAGGAGCCTGGAGCACGTTTAGCCCTGATTATGGAAGATGCTATACCAGGGGCTTTAGACTGTTAGGTAGACATTAGTCTGGTTGATCTGGGATAGGGGTGGTCTTTCGCGTGTGGTGGTGTAGTTTTGACAAAGCTTTGTCATCAAATTTCTGTTGTTTTGGGTACTATATGAAGCCTTCTTCAGCAGTCATTTGCCCTGTCTTTCATTACATTCAGCCTACCTAAACGAACCAGCTTTCTCATACAGGGTCTGCACCTGTGTAGTTTGCTAAGGTGGTGTAGGGCTAAAGTTGGCCTTTCCAATATTTGGGTGAATATTTTGTTACAATCGAAAAGGTAGAAAATAGGTCATAAACTAGGTGGTACAGCTCTTACAAAATATCGAAAATTTTAATTATCTTTATATCTGATCACTTAGAATCTAAGTCTTAGATAGTAACTAGAAATAACTTTTGAAAAGAGTTTCCTTTTTTGATAACTGAATGGTGCTTTGAAAAATTTTGTTGAGTTTCGACTATTCCTTCGTGTATTCCACACACACTGGCTGATCCCCTCCTGCTAGGTATTGTGCTGATACATAGATGGGGACACAAAGATGAGAAAATACCACCTCGTTAATCTTGGGGACTCAGGCACCAAGATGGAAACCGGATCCCTGAAGCCACATGGCAAAGCAGGGACTGCCCGGCAGGCCAGGCACAGAGGCACAGGAGCACAGCGTGTGGGGAACTTCTCAGAGCTCAGAAATCACTGCCGTTTTACCGAAGGTTGATTTATGTATTCTCTTTAATTGACCTTCCCGCCCGCAGGTTACCAGGTGACAGGGGTGTTTATGAAGAACTGGGACTCACTGGATGAACATGGGGTCTGTACTGCCGACAAAGACTGTGAAGATGCTTACAGAGTTTGCCAGATCTTAGACATCCCTTTCCATCAAGTGTCCTACGTAAAGGAGTATTGGAATGATGTGTTCAGGTGAGTGCGGGTCACAGCACAAAGGAAGCTTCCTCACACTGTGGATCCTTGCAGTGGAAGGATCCGGTAACCAGCCAGACCGACGCCTGTGCTGCAGCCCAGCGCTCTCCCTCCACGGTGGTGCTGAAGACTGCAAGAGGCCTCAGCCACCCTCGGGGCTCTGTGTTAGAGGCGAGGCCTGGACCCCACAGCACACCCAGCTCTCTCACTCCTGTCATTTTGCCACTTGCCTGAAGTCTCTTTAATGCTTTCTTGGACCTTGAGCTGTTTCTGTTGCCCAGTTAGGATAGGGGAGCTAAGGCTGAGGGCTCCCCTGGAAGGTGAGCACCAATGCCTGTGTGCTATGTGGGTCAGCGATTAGGGGATTTCTGAGAAAGAGGTGATACATGGCCTGTGCCTCTGAAAACAAGAAACAAACAAAAACTTTTCTAAAATCCAATATAATCTCAATAATTAAGTGCTGTGTGCTAGGCGTGTGCCACATCTAGGAACATTAAGATGTCTTCACTGTGACCTGGCTCTGTAGGAGTTTGCGGTCTAGTTGGGAGGACATTATCTTCACAAGAGGTGACAGTGATGCGTGGCACGCAGGAAGTACCAGTGATGCTATCAGTCACTGAACCCAGAGGAGGGAGAAACTTGCAGTGTGGAGTAATCAAGAAGGCTTCACCGGAGAGGAGGGGTTGCAAACAAAGTTGTAGAGAAGGGACTCCAAATGGGGTAACGAGAGCAGCGTGAAGGGGAGAAGAAATGCTGATTGTGTATTTCAGGACCGTTGTAAAGTTTGGCTGGACTTTTGTTCCTGCAGTGGAAGGAGTGTAGGGCTCATCCTCTGGTGAGCCCTGACTGTGATGAATGTCGGGCAGTTGTCGAAGGCGTCTGACACAGCAGGCCATGTGCGCGGGACAGGCTGCCCCTGCCTGAGTGGGCTTTAGGGGCAGAAGAGCCTTGGGTTGAGTCCTGACTGTAGCTTATTATATGACCTTGGGCAATTTACTTGACTTTGTTTTTTTAATTGAAAAAAATTCTCTTTTTTTCCTGCCAACAAAGACCCAGAAGAGATACTTGACTTTTCTAAGCCCCAATTTTCTCATCTTTAAAATGAGGATAACACTGATGCCTCACAGGGTTATGAAAGAATTGAGATTAGGTTCTAGTATGTATGCCTGGTATATTAGTAAGCAGTCAATAAACATAGCTGTTTTTCTTTTCTATTTTTTTTTGAGACAGAGCCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACATCTGCCTCCCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCATGCACCACCACGCCCGGATAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCGGGCTAGTCTCAGACTCCTGACCTCAGAAGATCCACTCGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCAGCCTGCTATTTTTATTTTCATTATTAAAAAGATGAGTCTGGGGAGCTAAGCTATGAGGACGCAAAGGCATAAAAATGATATAATGGACTCTGGGGTGAGGGATAAAAGACTACACATCGGGTACAATGTCCACTGCTTGGGTGACGGGTACACCAAAATCTCAGAAGTCACCACTGAAGAACTTATCCATGTGACCAAATACCAGCTGTTGCCCAAAAAACCATTGAAATAACAATAAAACGAAATTTAGAGAGATTAAGTAAATTGACTATGGTCACCTAAATAATCAACGGAAGAGCTTGAATATGAACCCTCTGTGACTCTATGCTATAACATATGGGTGTCGTATATATTAACAACATGGACAAAACTGATGGCTGAATTTTCCTGGGGAAAGTTACCTGTAGAATGCATGATAAATGCATTAAAAACTTATCTGTAGAATGCATGATAAATGCATTAAAAACTTCTGCAGTTTTCTCGGGGACATAAGAAAAAAAAAAGAGTGTGGCGGCCAAATACAGGAT | GAGCGAATGTGTCCCCGGAAACCTGTCCCCGTCCGTCGTGGCGTTGTGCACGTCTCCTCCCTCCCTGGGCCGCTGGTTGCGCGCGGGTCGGCAGGAGGATACCCCGTCCTCTGACTTTGGTTCGGAGGCTCCTCGCCCTCCACCTGTGTAGTCGGAGGTGTGCGCGACTGCAGCTCCGACTACCTGGGAGCAGTTCCGCGCCCCTCTCCACCCACGCGCGCCCACCCACAGTGAGAAGCCGGCGGGCCGGGGTGGGGTGGGGAGGGAAGGGTTTCTCACGGATCTGCGGCGTCCACATTCACCTGTGAGACCGTGGACACTGGTGAGGGGAGCTGGGATCGCCGGGCCGGGGGCCTGACCTCTGCACACGCTGTGGCCGCCCGGTGGGAGGTCCTTGTCCTCCCCACTCAGCAGACTGGACAACTGCCGCGCGGCGGGTCTGCTTGTTCAGCGTCTCCTGTGTTCTCCGCTCGCTGGAGGACAAAGTTTTCTCCAGGAGCATTTGCATTTCTTCCGGCATCTAAACGGAGCCCCACGGGTGCTTAGCATTCCTCGGGCCCGGCGCTGAAATGAGCACTTGTTTAACTTCACCTGTGTGGCTCCCCGCGGGAGGCCTCATTCACAGAGTCACGTTTGTGGAGCTCTGCTTTGCGCCATCTTTGGCTCCTGACCTTGGGCAAGTGAATTAAGCCGTCCCCTGTAAAATTCGGCTAACACCTGCCTCACGGGGTGACTGGAGGGATTAGATGACATAGTACATACTGATGAGTACGTGCTCAGCACATACGAGGTACGCAGAAAACAGTAGTGGCTATTAGTTTATATTGTTAATAACCATAGCTATTATGGTAGGTACAGTAAGTGCCAAAGAGAAGGGTAGGCGGACCATAAGCAGAAATAGTTGTGAGGAAGGGAGAGTGGAGGAAAGCATCCTAGAGATGGAGGTGCTCAGCTGAGTCGAAAGAAGAGTAGGATGTCACTAAGCAGAGACTTGGAGGTGGAGGCGGCCCTCCCGGCACAGTCAGCAGTGCAAGCAGAATCACAGAGGCCTGCAAGTGTGGGCTGGTTCTGGCCAGATGGAGATGGAAGGAGAGGAGCCTGGAGCACGTTTAGCCCTGATTATGGAAGATGCTATACCAGGGGCTTTAGACTGTTAGGTAGACATTAGTCTGGTTGATCTGGGATAGGGGTGGTCTTTCGCGTGTGGTGGTGTAGTTTTGACAAAGCTTTGTCATCAAATTTCTGTTGTTTTGGGTACTATATGAAGCCTTCTTCAGCAGTCATTTGCCCTGTCTTTCATTACATTCAGCCTACCTAAACGAACCAGCTTTCTCATACAGGGTCTGCACCTGTGTAGTTTGCTAAGGTGGTGTAGGGCTAAAGTTGGCCTTTCCAATATTTGGGTGAATATTTTGTTACAATCGAAAAGGTAGAAAATAGGTCATAAACTAGGTGGTACAGCTCTTACAAAATATCGAAAATTTTAATTATCTTTATATCTGATCACTTAGAATCTAAGTCTTAGATAGTAACTAGAAATAACTTTTGAAAAGAGTTTCCTTTTTTGATAACTGAATGGTGCTTTGAAAAATTTTGTTGAGTTTCGACTATTCCTTCGTGTATTCCACACACACTGGCTGATCCCCTCCTGCTAGGTATTGTGCTGATACATAGATGGGGACACAAAGATGAGAAAATACCACCTCGTTAATCTTGGGGACTCAGGCACCAAGATGGAAACCGGATCCCTGAAGCCACATGGCAAAGCAGGGACTGCCCGGCAGGCCAGGCACAGAGGCACAGGAGCACAGCGTGTGGGGAACTTCTCAGAGCTCAGAAATCACTGCCGTTTTACCGAAGGTTGATTTATGTATTCTCTTTAATTGACCTTCCCGCCCGCAGGTTACCAGGTGACAGGGGTGTTTATGAAGAACTGGGACTCACTGGATGAACATGGGGTCTGTACTGCCGACAAAGACTGTGAAGATGCTTACAGAGTTTGCCAGATCTTAGACATCCCTTTCCATCAAGTGTCCTACGTAAAGGAGCATTGGAATGATGTGTTCAGGTGAGTGCGGGTCACAGCACAAAGGAAGCTTCCTCACACTGTGGATCCTTGCAGTGGAAGGATCCGGTAACCAGCCAGACCGACGCCTGTGCTGCAGCCCAGCGCTCTCCCTCCACGGTGGTGCTGAAGACTGCAAGAGGCCTCAGCCACCCTCGGGGCTCTGTGTTAGAGGCGAGGCCTGGACCCCACAGCACACCCAGCTCTCTCACTCCTGTCATTTTGCCACTTGCCTGAAGTCTCTTTAATGCTTTCTTGGACCTTGAGCTGTTTCTGTTGCCCAGTTAGGATAGGGGAGCTAAGGCTGAGGGCTCCCCTGGAAGGTGAGCACCAATGCCTGTGTGCTATGTGGGTCAGCGATTAGGGGATTTCTGAGAAAGAGGTGATACATGGCCTGTGCCTCTGAAAACAAGAAACAAACAAAAACTTTTCTAAAATCCAATATAATCTCAATAATTAAGTGCTGTGTGCTAGGCGTGTGCCACATCTAGGAACATTAAGATGTCTTCACTGTGACCTGGCTCTGTAGGAGTTTGCGGTCTAGTTGGGAGGACATTATCTTCACAAGAGGTGACAGTGATGCGTGGCACGCAGGAAGTACCAGTGATGCTATCAGTCACTGAACCCAGAGGAGGGAGAAACTTGCAGTGTGGAGTAATCAAGAAGGCTTCACCGGAGAGGAGGGGTTGCAAACAAAGTTGTAGAGAAGGGACTCCAAATGGGGTAACGAGAGCAGCGTGAAGGGGAGAAGAAATGCTGATTGTGTATTTCAGGACCGTTGTAAAGTTTGGCTGGACTTTTGTTCCTGCAGTGGAAGGAGTGTAGGGCTCATCCTCTGGTGAGCCCTGACTGTGATGAATGTCGGGCAGTTGTCGAAGGCGTCTGACACAGCAGGCCATGTGCGCGGGACAGGCTGCCCCTGCCTGAGTGGGCTTTAGGGGCAGAAGAGCCTTGGGTTGAGTCCTGACTGTAGCTTATTATATGACCTTGGGCAATTTACTTGACTTTGTTTTTTTAATTGAAAAAAATTCTCTTTTTTTCCTGCCAACAAAGACCCAGAAGAGATACTTGACTTTTCTAAGCCCCAATTTTCTCATCTTTAAAATGAGGATAACACTGATGCCTCACAGGGTTATGAAAGAATTGAGATTAGGTTCTAGTATGTATGCCTGGTATATTAGTAAGCAGTCAATAAACATAGCTGTTTTTCTTTTCTATTTTTTTTTGAGACAGAGCCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACATCTGCCTCCCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCATGCACCACCACGCCCGGATAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCGGGCTAGTCTCAGACTCCTGACCTCAGAAGATCCACTCGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCAGCCTGCTATTTTTATTTTCATTATTAAAAAGATGAGTCTGGGGAGCTAAGCTATGAGGACGCAAAGGCATAAAAATGATATAATGGACTCTGGGGTGAGGGATAAAAGACTACACATCGGGTACAATGTCCACTGCTTGGGTGACGGGTACACCAAAATCTCAGAAGTCACCACTGAAGAACTTATCCATGTGACCAAATACCAGCTGTTGCCCAAAAAACCATTGAAATAACAATAAAACGAAATTTAGAGAGATTAAGTAAATTGACTATGGTCACCTAAATAATCAACGGAAGAGCTTGAATATGAACCCTCTGTGACTCTATGCTATAACATATGGGTGTCGTATATATTAACAACATGGACAAAACTGATGGCTGAATTTTCCTGGGGAAAGTTACCTGTAGAATGCATGATAAATGCATTAAAAACTTATCTGTAGAATGCATGATAAATGCATTAAAAACTTCTGCAGTTTTCTCGGGGACATAAGAAAAAAAAAAGAGTGTGGCGGCCAAATACAGGAT |
Task1_train_28895 | Assess the clinical impact of this variant on gene TRMU (tRNA mitochondrial 2-thiouridylase), found on Chromosome 22. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | TGTCCTCCCTGAACTGTTGAAATTACTTTGGGTCGTAGTGGCAGTGGTCAAGCGTGTGAGTTAGGATGACATTCTTTGTGTGACACCAGCAGACAGTTAGGACTGGCAGGAGAAAGAGTTCCCTGAGGTGGAGGCGCAGGCAGCTGTTCAGGAAGGGAAGGCTTGCCTTTGGAGAGCATTAAGCTGTCACGAAAGCTTTTTAGGGAGCCCCTAGGTGGCTGGCTGTCAGGCACGCTGTGGAAGGAACTTCTGCAGTGAATGTTTCCACACCTGGAAGAAAGGCATGAACCGTGCAGCACAGGATGAGAGGACATGACGCCCAGACTTCTGAACTCACCGCGCTTCTCAGAGGCATCCTGCGCTTTTTCTAGTATAAGTGCTGTTCTTTGAGGACACAGATGTAAAGTGGATTGTTTTCTCTAGGAGAACCTCAGTCAAGATGAGATTATGTGTCTCTAAAGTGCCTTTTTCAGGTCGTTAATATGCAGCAGCTAATTCTTGCTGTGTCTTCTGTTTACATGGAGCTAGTGTGGCTGGTCCAGGATGGCTGTGTCTTCTGTTTACACTGAGCTAGTGTGGTTGGTCCAGGATGGAATCCATTTTGCTGCACCTTTCATAAAAGTCTCTTGCAATACTAAATATCTGTAATTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCTCCTGAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCAACATGTCTAGCTAATTTTTGTACTTTTTTTGTAGAGACGGGGTTTCATCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCACATCGGCCTCCTAAAAGTGCTGGGATGACAGGCGTGAGCCGCTGCGCCTGGCCCAAATATCTGGAATTTTTACACAATGAAAAGGTTCTGGATTCATATGCACCTTGTTAGGCTCTTTGGCTTTGTGTAATATGAAAAGAAGAAACAGTGTGCTGGATGATTCTTCACTCTGATGAAAATAATACATATTTATTACAGAAAATTTAAAAGAGGAGAAACGACACCTATAATTTCACTCTCAGAATCAAAGGAATAGACCTGAGATTTTTCTTCAACTGTTTCTGTACAGTAAAAACCGTGGAATCATGGTGTTACATCCTCGCCCTGCTGAACAGTGCCGGGCATTTTCCCGTGTTAGTAAACATTCTCTGTAAGGACCCCCATTGTTACGGCAGTGCATTGTCATTCACTTCACATTCTCCCAGTGTTGAACATTTTGGTTCTTTTTTTTTTTTTTTTCCTCCTGAGACAGCATCTTGCTCTGTTGCCCAGACTAGAGTGCTGTGGTGCAGTCTTGGCTTCCTGCAGCCTCAACCTCCCAGGTTGAAGCAATCCTCCCACCTCAGCCTCCCAAGTGGCTGGGACTACAGGTGTGCCCCACCACGCCTGGCTAATTTTTGTATTTTTTGTAAAGGTGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCACAAGCAATCATCTGCCCGCCTCGGCCTCCCAGAGTGCTAGGATTACAGGCATGAGCCACCGCGCCTGGCCTCCCTTCGTATTATCACAAACCCTGAAAGGAATATTTTGTGTTTAAATCTTTCTGTGCCTTTCAGACTGTTTCCTTAAGCCAGAAATTAACTTTGGAAAGGCTCTTAAAGGTGCAATAACACTTTAAGTAGCAAGGTTGTATCAGCTTAAGAGTTCAAGGCTGCTTGTTTGATGAAATTGGATGTGTGCGTCTGTTCCCTGGGATCTCTATGTTTGGGTGCAGGGTGGATTGTGCAGCCCCTCAGCCTAAGACTTGGGGTCTATACTCTTCTTTTGTGCCTTGGTTTATGCTGATCAAGGCCTGCAAGTATGAGTCTAAAACCTGATCCTTGTGTTCTAAAAACCTCACAGGGGCAGATGCCATTGCCACAGGTCACTATGCAAGAACTTCCCTGGAAGATGAAGAAGTCTTTGAGCAGAAGCACGTTAAGAAGCCCGAAGGGCTTTTCAGAAATCGGTTTGAAGTTAGAAATGGTAAGTTCATGTGCCCAGGTCAGAGCCAAATTCTTGTGAACAGATTGAAATCTTTGGAGGAATGACAGTGGGTTGTGCCTGAGGATCACTGCCACCCCTCCCTCTGTGCTCCAGAGTAGCTTGTATGGGATTCACATTTGAAAAGGTGCAGTTACCAAGAGGACATTTTCCCGGAGGGCCTGTGATTGGGTAGTAAACAGTGTCCCTGCCGGCCATGGTGAGGGCTGGTGGAAAGTGACATCAGATACTGATAATCCAGCTCTCGACACTGTGTGGTGATTTGAATGTTCCAAAAATATCTGGGTAAATATTTGACAGTGATAATTGGGGTGCTGTCAGTCTAGCCAAGGACCTGTACTTAGCAACAAGTTCTCAAGGGCGTGCGGTTCAGGCAGACTTTCAACGTGCTGTGAGCACAGGACCTGCTGTGGATCGCATGGGCTCAGCAGTCAGGCTTTGTAGCCGTATTTACACGTTAGTTTATGCGTGTTAGGGAGCCAAGTTTCACCTTTCTAGAAAAAAGTCAATGGCAGACAGTGAGCTGGGAAGCTGCTGGCCTGTCCTGGTGTACATTCGTGTGTAGAAAAGAGGAATTCCCTGTATTGTTGAGTGAAAAACCAAGTGGGGCTCAGAGCCGTGTTTCCGCACGGAGCGTCCGTCCATCAGTGGGGACCCCTGAAGGGCAGCCTTGCTCTTTTGTCCGGAAGTTCAGATGTTGGAGGGAGCCTTGTCCCGCCATCTGGGGAATAGGGGTCTCTGGGGCTGGGGCAGGGCTTTACATACACACATTTCTTTTTTAATTATTATTATTAATTTTATTTTTTTGAGAGAGGATCTCACTCTGTCAACCGGGCTGGAGTACAGTGGCCCGATCTTGGCTCGCTGCAGCCTCCACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCCCACCAAGTAGCTGGGACCACAGGTGTGCGCCACTATGCTCGGCTTTTTCATTTTTTGTAGAGATGAGGTCTCGTTAATGTTGTCCGTGCTGGTCTTGAATTCCTGGGCTCAAGCGATCCTCCCACCTCGGCCTCTCAAAGTGTTGGGATTACAGGTGTGAGCCACCAAGCCCGGCCTCACACGTTTCACATCACTCCTCTTAGCAGTCCATGAGGTGTATGCTCTCATCCCGTTTCACAGATGAGGAAACCGAGGCCCGGATGAAGCCATCTGACCTGGGTCCCTCGGGTGGCAGAGCTGGATTTCAGTGCACTTCCGCTCACTCCCCAGCCCCTGCTGCTTCTGCTGGGTCAGGCCCCAGCTGAGTTCTTTCCTCAGCGTTGCTGAGCCCATCCTGAAGGCTGCAGTGATGGGGCAGGGCCGTGCTTGGTCAAGGGAGCCCTGAGTGTGCCAACAGTCGTCTGCCGCCCTCTGTTCCCTCCTCGCCTTCCTTCCTTATGCCACAGGGTGATCAGGTAACTGTACTGACTTGAGCCCAGAGAAGAGCAGCCCACTCCCGTAAGACAGCCCCCCATTTCAGGAAGACATGGGTTTGAATGCAGATAAGACAGCCCCCCATTTCAGGAAGACATGGGTTGGAATGCAGAGTCCTGCCACTTGGGAACTCCAGGGTGGAATTCACCAAGTAATTGTGCATTTACGGGGCCTGAGGAGATGGAGGGTTAATTTCCATGTTGAATAGATGCGCCTGCTTACCTCCTAGAACATTACCTCCTAGAACACTGTGTGCCCTGCAGAGCCATCGACCTTTATTATAGGCCACGTGCCCTCGGAAACTTGGGACAGTACTGATGCGTTCTGTTGAGTGCGTTTGGCATGTGGGAATTGTGATGGTGCACAGTGTCTTGGCCTTCACTGGGTTTTGTAGGCACACTAAGGTTTCCATTTCATTCTTCTTCAGTTGCCCTGGCCCAGCCTGGGTCTCTGGGTAGAGCACCTGCAGGGGCAGTGGACGGCCTGGGCTCAGGGTCGGTCAGCACCTGAGACCA | TGTCCTCCCTGAACTGTTGAAATTACTTTGGGTCGTAGTGGCAGTGGTCAAGCGTGTGAGTTAGGATGACATTCTTTGTGTGACACCAGCAGACAGTTAGGACTGGCAGGAGAAAGAGTTCCCTGAGGTGGAGGCGCAGGCAGCTGTTCAGGAAGGGAAGGCTTGCCTTTGGAGAGCATTAAGCTGTCACGAAAGCTTTTTAGGGAGCCCCTAGGTGGCTGGCTGTCAGGCACGCTGTGGAAGGAACTTCTGCAGTGAATGTTTCCACACCTGGAAGAAAGGCATGAACCGTGCAGCACAGGATGAGAGGACATGACGCCCAGACTTCTGAACTCACCGCGCTTCTCAGAGGCATCCTGCGCTTTTTCTAGTATAAGTGCTGTTCTTTGAGGACACAGATGTAAAGTGGATTGTTTTCTCTAGGAGAACCTCAGTCAAGATGAGATTATGTGTCTCTAAAGTGCCTTTTTCAGGTCGTTAATATGCAGCAGCTAATTCTTGCTGTGTCTTCTGTTTACATGGAGCTAGTGTGGCTGGTCCAGGATGGCTGTGTCTTCTGTTTACACTGAGCTAGTGTGGTTGGTCCAGGATGGAATCCATTTTGCTGCACCTTTCATAAAAGTCTCTTGCAATACTAAATATCTGTAATTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCTCCTGAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCAACATGTCTAGCTAATTTTTGTACTTTTTTTGTAGAGACGGGGTTTCATCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCACATCGGCCTCCTAAAAGTGCTGGGATGACAGGCGTGAGCCGCTGCGCCTGGCCCAAATATCTGGAATTTTTACACAATGAAAAGGTTCTGGATTCATATGCACCTTGTTAGGCTCTTTGGCTTTGTGTAATATGAAAAGAAGAAACAGTGTGCTGGATGATTCTTCACTCTGATGAAAATAATACATATTTATTACAGAAAATTTAAAAGAGGAGAAACGACACCTATAATTTCACTCTCAGAATCAAAGGAATAGACCTGAGATTTTTCTTCAACTGTTTCTGTACAGTAAAAACCGTGGAATCATGGTGTTACATCCTCGCCCTGCTGAACAGTGCCGGGCATTTTCCCGTGTTAGTAAACATTCTCTGTAAGGACCCCCATTGTTACGGCAGTGCATTGTCATTCACTTCACATTCTCCCAGTGTTGAACATTTTGGTTCTTTTTTTTTTTTTTTTCCTCCTGAGACAGCATCTTGCTCTGTTGCCCAGACTAGAGTGCTGTGGTGCAGTCTTGGCTTCCTGCAGCCTCAACCTCCCAGGTTGAAGCAATCCTCCCACCTCAGCCTCCCAAGTGGCTGGGACTACAGGTGTGCCCCACCACGCCTGGCTAATTTTTGTATTTTTTGTAAAGGTGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCACAAGCAATCATCTGCCCGCCTCGGCCTCCCAGAGTGCTAGGATTACAGGCATGAGCCACCGCGCCTGGCCTCCCTTCGTATTATCACAAACCCTGAAAGGAATATTTTGTGTTTAAATCTTTCTGTGCCTTTCAGACTGTTTCCTTAAGCCAGAAATTAACTTTGGAAAGGCTCTTAAAGGTGCAATAACACTTTAAGTAGCAAGGTTGTATCAGCTTAAGAGTTCAAGGCTGCTTGTTTGATGAAATTGGATGTGTGCGTCTGTTCCCTGGGATCTCTATGTTTGGGTGCAGGGTGGATTGTGCAGCCCCTCAGCCTAAGACTTGGGGTCTATACTCTTCTTTTGTGCCTTGGTTTATGCTGATCAAGGCCTGCAAGTATGAGTCTAAAACCTGATCCTTGTGTTCTAAAAACCTCACAGGGGCAGATGCCATTGCCACAGGTCACTATGCAAGAACTTCCCTGGAAGATGAATAAGTCTTTGAGCAGAAGCACGTTAAGAAGCCCGAAGGGCTTTTCAGAAATCGGTTTGAAGTTAGAAATGGTAAGTTCATGTGCCCAGGTCAGAGCCAAATTCTTGTGAACAGATTGAAATCTTTGGAGGAATGACAGTGGGTTGTGCCTGAGGATCACTGCCACCCCTCCCTCTGTGCTCCAGAGTAGCTTGTATGGGATTCACATTTGAAAAGGTGCAGTTACCAAGAGGACATTTTCCCGGAGGGCCTGTGATTGGGTAGTAAACAGTGTCCCTGCCGGCCATGGTGAGGGCTGGTGGAAAGTGACATCAGATACTGATAATCCAGCTCTCGACACTGTGTGGTGATTTGAATGTTCCAAAAATATCTGGGTAAATATTTGACAGTGATAATTGGGGTGCTGTCAGTCTAGCCAAGGACCTGTACTTAGCAACAAGTTCTCAAGGGCGTGCGGTTCAGGCAGACTTTCAACGTGCTGTGAGCACAGGACCTGCTGTGGATCGCATGGGCTCAGCAGTCAGGCTTTGTAGCCGTATTTACACGTTAGTTTATGCGTGTTAGGGAGCCAAGTTTCACCTTTCTAGAAAAAAGTCAATGGCAGACAGTGAGCTGGGAAGCTGCTGGCCTGTCCTGGTGTACATTCGTGTGTAGAAAAGAGGAATTCCCTGTATTGTTGAGTGAAAAACCAAGTGGGGCTCAGAGCCGTGTTTCCGCACGGAGCGTCCGTCCATCAGTGGGGACCCCTGAAGGGCAGCCTTGCTCTTTTGTCCGGAAGTTCAGATGTTGGAGGGAGCCTTGTCCCGCCATCTGGGGAATAGGGGTCTCTGGGGCTGGGGCAGGGCTTTACATACACACATTTCTTTTTTAATTATTATTATTAATTTTATTTTTTTGAGAGAGGATCTCACTCTGTCAACCGGGCTGGAGTACAGTGGCCCGATCTTGGCTCGCTGCAGCCTCCACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCCCACCAAGTAGCTGGGACCACAGGTGTGCGCCACTATGCTCGGCTTTTTCATTTTTTGTAGAGATGAGGTCTCGTTAATGTTGTCCGTGCTGGTCTTGAATTCCTGGGCTCAAGCGATCCTCCCACCTCGGCCTCTCAAAGTGTTGGGATTACAGGTGTGAGCCACCAAGCCCGGCCTCACACGTTTCACATCACTCCTCTTAGCAGTCCATGAGGTGTATGCTCTCATCCCGTTTCACAGATGAGGAAACCGAGGCCCGGATGAAGCCATCTGACCTGGGTCCCTCGGGTGGCAGAGCTGGATTTCAGTGCACTTCCGCTCACTCCCCAGCCCCTGCTGCTTCTGCTGGGTCAGGCCCCAGCTGAGTTCTTTCCTCAGCGTTGCTGAGCCCATCCTGAAGGCTGCAGTGATGGGGCAGGGCCGTGCTTGGTCAAGGGAGCCCTGAGTGTGCCAACAGTCGTCTGCCGCCCTCTGTTCCCTCCTCGCCTTCCTTCCTTATGCCACAGGGTGATCAGGTAACTGTACTGACTTGAGCCCAGAGAAGAGCAGCCCACTCCCGTAAGACAGCCCCCCATTTCAGGAAGACATGGGTTTGAATGCAGATAAGACAGCCCCCCATTTCAGGAAGACATGGGTTGGAATGCAGAGTCCTGCCACTTGGGAACTCCAGGGTGGAATTCACCAAGTAATTGTGCATTTACGGGGCCTGAGGAGATGGAGGGTTAATTTCCATGTTGAATAGATGCGCCTGCTTACCTCCTAGAACATTACCTCCTAGAACACTGTGTGCCCTGCAGAGCCATCGACCTTTATTATAGGCCACGTGCCCTCGGAAACTTGGGACAGTACTGATGCGTTCTGTTGAGTGCGTTTGGCATGTGGGAATTGTGATGGTGCACAGTGTCTTGGCCTTCACTGGGTTTTGTAGGCACACTAAGGTTTCCATTTCATTCTTCTTCAGTTGCCCTGGCCCAGCCTGGGTCTCTGGGTAGAGCACCTGCAGGGGCAGTGGACGGCCTGGGCTCAGGGTCGGTCAGCACCTGAGACCA |
Task1_train_28896 | A variant was discovered on Chromosome 22, affecting TRMU (tRNA mitochondrial 2-thiouridylase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | GCCTGGCTTTCCTGCTACCTGCCCCTTCTCTGGTCCCTGTCTCTCCCCCACTCCTCGCAGGACAGTGGCCTGAAGGACCTGACCGGGTTCTGCTTTCTTCCCCGGGGCAGCTGGTGTGAGGGTCTCCCGCGCAGGGTCAGACCCCGCGGGCCGAGACAATGAGGCGTTCTCTAAGGCTCTGGCATCGTGTGCGCCGGCTGTGACTGGCGGCCGAGGGTGCCGGTGGGCAGCCGGGCCCCTACCCTGGAAGCAAAGTGTGGGGTGAGGCCGGGAGGCCCCAGGGCCCGCTCAGGACGTCTGGGTACAGCTTGGGCCACCGCCACTTCTGCTCCTCTCACGGCTGCCGTCTTCTCATTTCAGAGCATGGGCATGTGTTTCATCGGGAAGAGGAATTTTGAACATTTCCTTCTTCAGGTGCGTGCTGCTCTTTGACACAAAGAGATGGGGCTGCGTGTCTGCCCTGGGCCTAGATCTCCGTCGGTAATGACATGTTTGTTTTCCAGTATCTGCAGCCTCGACCTGGTCACTTTATTTCCATAGAAGACAATAAGGTTCTGGGAACACATAAAGGTGAGGTGCAGACTCTGCCACTTGTCATCTGAAATGCCTAGAGCTGTGGCGTTTCAGCTCTGGGAGACTAGACCAGAGTTCCTGTCGTCCCTTCCACTTGGCTGGAGAATTGTAGAAGGCTCTGTGGGGCGGCCGGGGGCGGGCACGGCCTAGGGTGGAACAGTTGCCTTGATGGTGGCTGGGTGCACTTCCAGATGTGGCCTCAGCTGAGATGCTGGAGTTCATGAAAAGCGCGCCTCTGACTTGGAAGGACTATACTCTGTGAGTTACGTATCAAGTCCCTGTAAAAAGAATGATTTCCTTCCTGTGTAAGGAAAATGTTAAACTACACAAAACTCCACTCTGATTCAGGGAGTAAGGTGGACGTCCCGGCATGGTGTGAATGATTAAGGACCACATGCAGCGATGGGATCAGGCGTCCGCGCTGGCCAGAGTGCTGCTCGCTCATGTGCAGACCCTTACTGCGGTGAGGCCTGCGTGAGCCTGTGCTGTGCCTGGTGTCAGGGGACAGGCTCCGAGTCAGTCACAGTGTGCAGTCCTGCTGTGGGGACAGAGTGCAGCCATTGTTGGGTTAGTACAGTGGCGGGGATGTGCCTGCCGGCGTGATGATCAGGCAGGTCTTGACACAGCACAGACCTGAGCTGTGGGACTGGCCAGGAGAGCCAGGCTGCAGCTCAGGTGTAGGGCGTCTTGCAGTGAATTGCACTTGGAGATCTTCCACCTCTTGTGGAGGGGAGACGGCAGGCGGAGCCGGGGCTAGGCATTCCTGAGACAGGTGGAGGTGACAGCTTTGCTTGGGACAGAACTGCCAGACAGGATTGCCCATGTATCTGCCAGCCCTGGCCCCAGCAGGAGCCAGTTGGATGACTCATGGCTTCCACCTGCAGTTCACTTCACTGAAGAAGGCTGCCGGCCCAGGCCACGTGGTAAATCCCATGAGGTTCTCTCTGCCTGTGTGCCCCACTGCAGGGGAGGGAGGCAGTGAGTTTGCCATCTGCTGTGTGACATTGTGAGGGTGCGCAGAGCAGCTGGGGGTAGCCCTGATGCAGTTACTGCATTAGATGGACACTGTGAAGACGTGCAGCTATGTCATGGGCTCAGCAAGAAGGGCCCCTGGCGTCACACAGGGCACCCAGCCGCATCCTGGGCCTAGGGTCAGGGGCTCCTACAGCTGGAACCTGCACCTTCTGGGGCACAAGGTGCCTTCTTTGTGGCCACCACACCCCATGTCCAGCCCAGGCCTGGACAATGATGAGATGTGCTCAGGTGCTTGGTCAGGGCTGGCTTTGGTGGTTGGAGAATCGTATCTTCCTAGTGAGTTACACCATTGCTGGGCCTGCTCTGGGCTGCCCTCCCAGCATCTGCCTTCATGATGAGGCGTGACATGTGGGCTGTAACTTGTTGCCCAGCCTCATGGAGAAACTGTCTTTCTGTAGGTTGGTTCCTGTATACCTTGGGCCAGAGAGCAAACATAGGTGGCCTGAGAGAGCCCTGGTACGTGGTGGAGAAGGACAGCGTCAAGGGTGACGTGTTTGTGGTGAGTGGGCCGGCCTCTGAGACAGCACTGGGGCTGGTTCTGGCAGGGCCAGCAGTGCTTCCAGACCAGGGCTTGAGAAGGCCTCCAGCAGCCGTGGCTTCCTGGAGGCTGTGACTAACTCTGTTCCTGTCCTTGGTCCCCTGCCTTTCCTGGGACTGGCCATGGTGGCAGGAGAGTTTTAAGGTATTCATTAGGCTGAGTTGTATGCTGGTCTCTTAATCATCCCTGAACCCCGATACACAGATACAGTTTCTCCAATTTTATGAAAGAGGACAGCGACGCCCAGAGCTTGGGTGGCTCATCCGGTGGAGAGGGCATGGCCTCAGTGCCAAGGATGGTGCCCACCATGGTAGGATCCAGTGAGTTGTTGTCAGGCAGGTGCAGATGGCCAAGCCAGGATCAAACCAAGCCTTCCACCACAGTGGGGACCTTACCACTGTGACCCTGGCCTCAAAGCAGGGCCGCTCAGTGGCGGCAAGCTCACCCCACCTTCAGGGGACCTTGCCAGTGTCTAGAGGCATTTTTGGTTGTCACAGCTTGGGTGGAAAAGCAAGGACGCGGGTGCTGCTGCATCTGTGGGTCAGGCCGGGGATGCTGCTTGCCGTGTTCAGCACAGCCTCTTCCCTGAGTGACCCGGCCTCCACCTTGGCGCGTGGAGCTGAGAAGGCCCACTCTCAGCACCCTGGCTGCCGGCTCATGTTCTGGCACGAATGCTGGGGCGCCTTCTCTTAGACGGAGGCGGGGGCCAGCAGGCCCCACCCACCGATTCCAGGACATCTCCTTACTAGGAAGACCTGTGGGGAGAAAAGCCTGGCTGCGAATGAATTAAATGATCTAGATTTCAGTTTGCTGTGAGAAGACCAGAAGGGTTAACCAACGGCCTCCTGTCCCTGGACGGGTCTTGGTGCCTGCTTAGAACCCAAAGCCCTTAACTTCATGCTCCTCGTCCTGCTTCAGGGGCGGGGCTTGGCACAATCCCAGGAGGTGCCAGGTCTCAATGGCCCGAGGCCATGGGTGGGTGACAGGGAGCAGGGGCCTCAGAACCAACCTAGGGTATCTGGGGCCCCCCAGACCAGGGCCAGTCCTGGGGCACCTGTGGGAAGCCAGCAGCTACCAGTCCCTCCTTTCTCCTCAGCCATTTGGTGTGTGGAGGAATTCCTGGGGTGGCCTTGAGAGAAGAGCCCGTGGTGTGGCTGGCCCCTGTCCCTGCGAATAGAAAAACCAGTCCTCGAGGGGGGCCGTGCTGCTGCCCCACAGGTGGTTGCAGGTAGAGGGCCTGAGTCAGACTTGAACCTGCAGCATTCACTGTCATGGGCTCGGATCTCACCCCTGCCTCTTGCCCACTCTGACATGGTACTTCCTTCCTGGGCCTTAGTCTCCTCATCTGTAAAATGGGGATTCAAAGGCCCGGCGGGTGATGAGATGAATTTCTGTGGGTAGAACACTTCGAGCGGTGCCAGCACCGTTACCTGTGTGTGTGTGTGCTGGTAGGACAGTTGTTCCCAGGGACCACACTGAGGCCGGCCTTGGGGCCAGGTGCCCCTCGGCGTCCCCACCTTCACATTCCATTCTGCAGGCCCCCCGGACAGACCACCCAGCCCTGTACAGGGACCTGCTGAGGACCAGCCGCGTGCACTGGATTGCGGAGGAGCCTCCCGCAGCACTGGTCCGGGACAAGATGATGGAGTGCCACTTCCGATTCCGCCACCAGATGGCACTAGGTGACTGACGGGAGGGCTCCTGAGGACGGGCCCCTTGAAGCTGAGCTTCCTGAGGCCAGATTTGGGCCAGGGATGGGAGACCCTGGGGTAGGAAAGTCCCGTTGTGGAGATCATTTGGAGATTACCTAAAGTATTTAGAACTCCCGTGTCCTGTGCCTGCCCTGAGCGAGGCCTGGGGGTGCTGGGAGCAGATGCAGGCAGGCCCCGGCGTGTTGGGCTGAAGCAAGTGTGTACACTGCCCCGCAGTGTCCTGCTGCGTCCAGGGCCC 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GCCTGGCTTTCCTGCTACCTGCCCCTTCTCTGGTCCCTGTCTCTCCCCCACTCCTCGCAGGACAGTGGCCTGAAGGACCTGACCGGGTTCTGCTTTCTTCCCCGGGGCAGCTGGTGTGAGGGTCTCCCGCGCAGGGTCAGACCCCGCGGGCCGAGACAATGAGGCGTTCTCTAAGGCTCTGGCATCGTGTGCGCCGGCTGTGACTGGCGGCCGAGGGTGCCGGTGGGCAGCCGGGCCCCTACCCTGGAAGCAAAGTGTGGGGTGAGGCCGGGAGGCCCCAGGGCCCGCTCAGGACGTCTGGGTACAGCTTGGGCCACCGCCACTTCTGCTCCTCTCACGGCTGCCGTCTTCTCATTTCAGAGCATGGGCATGTGTTTCATCGGGAAGAGGAATTTTGAACATTTCCTTCTTCAGGTGCGTGCTGCTCTTTGACACAAAGAGATGGGGCTGCGTGTCTGCCCTGGGCCTAGATCTCCGTCGGTAATGACATGTTTGTTTTCCAGTATCTGCAGCCTCGACCTGGTCACTTTATTTCCATAGAAGACAATAAGGTTCTGGGAACACATAAAGGTGAGGTGCAGACTCTGCCACTTGTCATCTGAAATGCCTAGAGCTGTGGCGTTTCAGCTCTGGGAGACTAGACCAGAGTTCCTGTCGTCCCTTCCACTTGGCTGGAGAATTGTAGAAGGCTCTGTGGGGCGGCCGGGGGCGGGCACGGCCTAGGGTGGAACAGTTGCCTTGATGGTGGCTGGGTGCACTTCCAGATGTGGCCTCAGCTGAGATGCTGGAGTTCATGAAAAGCGCGCCTCTGACTTGGAAGGACTATACTCTGTGAGTTACGTATCAAGTCCCTGTAAAAAGAATGATTTCCTTCCTGTGTAAGGAAAATGTTAAACTACACAAAACTCCACTCTGATTCAGGGAGTAAGGTGGACGTCCCGGCATGGTGTGAATGATTAAGGACCACATGCAGCGATGGGATCAGGCGTCCGCGCTGGCCAGAGTGCTGCTCGCTCATGTGCAGACCCTTACTGCGGTGAGGCCTGCGTGAGCCTGTGCTGTGCCTGGTGTCAGGGGACAGGCTCCGAGTCAGTCACAGTGTGCAGTCCTGCTGTGGGGACAGAGTGCAGCCATTGTTGGGTTAGTACAGTGGCGGGGATGTGCCTGCCGGCGTGATGATCAGGCAGGTCTTGACACAGCACAGACCTGAGCTGTGGGACTGGCCAGGAGAGCCAGGCTGCAGCTCAGGTGTAGGGCGTCTTGCAGTGAATTGCACTTGGAGATCTTCCACCTCTTGTGGAGGGGAGACGGCAGGCGGAGCCGGGGCTAGGCATTCCTGAGACAGGTGGAGGTGACAGCTTTGCTTGGGACAGAACTGCCAGACAGGATTGCCCATGTATCTGCCAGCCCTGGCCCCAGCAGGAGCCAGTTGGATGACTCATGGCTTCCACCTGCAGTTCACTTCACTGAAGAAGGCTGCCGGCCCAGGCCACGTGGTAAATCCCATGAGGTTCTCTCTGCCTGTGTGCCCCACTGCAGGGGAGGGAGGCAGTGAGTTTGCCATCTGCTGTGTGACATTGTGAGGGTGCGCAGAGCAGCTGGGGGTAGCCCTGATGCAGTTACTGCATTAGATGGACACTGTGAAGACGTGCAGCTATGTCATGGGCTCAGCAAGAAGGGCCCCTGGCGTCACACAGGGCACCCAGCCGCATCCTGGGCCTAGGGTCAGGGGCTCCTACAGCTGGAACCTGCACCTTCTGGGGCACAAGGTGCCTTCTTTGTGGCCACCACACCCCATGTCCAGCCCAGGCCTGGACAATGATGAGATGTGCTCAGGTGCTTGGTCAGGGCTGGCTTTGGTGGTTGGAGAATCGTATCTTCCTAGTGAGTTACACCATTGCTGGGCCTGCTCTGGGCTGCCCTCCCAGCATCTGCCTTCATGATGAGGCGTGACATGTGGGCTGTAACTTGTTGCCCAGCCTCATGGAGAAACTGTCTTTCTGTAGGTTGGTTCCTGTATACCTTGGGCCAGAGAGCAAACATAGGTGACCTGAGAGAGCCCTGGTACGTGGTGGAGAAGGACAGCGTCAAGGGTGACGTGTTTGTGGTGAGTGGGCCGGCCTCTGAGACAGCACTGGGGCTGGTTCTGGCAGGGCCAGCAGTGCTTCCAGACCAGGGCTTGAGAAGGCCTCCAGCAGCCGTGGCTTCCTGGAGGCTGTGACTAACTCTGTTCCTGTCCTTGGTCCCCTGCCTTTCCTGGGACTGGCCATGGTGGCAGGAGAGTTTTAAGGTATTCATTAGGCTGAGTTGTATGCTGGTCTCTTAATCATCCCTGAACCCCGATACACAGATACAGTTTCTCCAATTTTATGAAAGAGGACAGCGACGCCCAGAGCTTGGGTGGCTCATCCGGTGGAGAGGGCATGGCCTCAGTGCCAAGGATGGTGCCCACCATGGTAGGATCCAGTGAGTTGTTGTCAGGCAGGTGCAGATGGCCAAGCCAGGATCAAACCAAGCCTTCCACCACAGTGGGGACCTTACCACTGTGACCCTGGCCTCAAAGCAGGGCCGCTCAGTGGCGGCAAGCTCACCCCACCTTCAGGGGACCTTGCCAGTGTCTAGAGGCATTTTTGGTTGTCACAGCTTGGGTGGAAAAGCAAGGACGCGGGTGCTGCTGCATCTGTGGGTCAGGCCGGGGATGCTGCTTGCCGTGTTCAGCACAGCCTCTTCCCTGAGTGACCCGGCCTCCACCTTGGCGCGTGGAGCTGAGAAGGCCCACTCTCAGCACCCTGGCTGCCGGCTCATGTTCTGGCACGAATGCTGGGGCGCCTTCTCTTAGACGGAGGCGGGGGCCAGCAGGCCCCACCCACCGATTCCAGGACATCTCCTTACTAGGAAGACCTGTGGGGAGAAAAGCCTGGCTGCGAATGAATTAAATGATCTAGATTTCAGTTTGCTGTGAGAAGACCAGAAGGGTTAACCAACGGCCTCCTGTCCCTGGACGGGTCTTGGTGCCTGCTTAGAACCCAAAGCCCTTAACTTCATGCTCCTCGTCCTGCTTCAGGGGCGGGGCTTGGCACAATCCCAGGAGGTGCCAGGTCTCAATGGCCCGAGGCCATGGGTGGGTGACAGGGAGCAGGGGCCTCAGAACCAACCTAGGGTATCTGGGGCCCCCCAGACCAGGGCCAGTCCTGGGGCACCTGTGGGAAGCCAGCAGCTACCAGTCCCTCCTTTCTCCTCAGCCATTTGGTGTGTGGAGGAATTCCTGGGGTGGCCTTGAGAGAAGAGCCCGTGGTGTGGCTGGCCCCTGTCCCTGCGAATAGAAAAACCAGTCCTCGAGGGGGGCCGTGCTGCTGCCCCACAGGTGGTTGCAGGTAGAGGGCCTGAGTCAGACTTGAACCTGCAGCATTCACTGTCATGGGCTCGGATCTCACCCCTGCCTCTTGCCCACTCTGACATGGTACTTCCTTCCTGGGCCTTAGTCTCCTCATCTGTAAAATGGGGATTCAAAGGCCCGGCGGGTGATGAGATGAATTTCTGTGGGTAGAACACTTCGAGCGGTGCCAGCACCGTTACCTGTGTGTGTGTGTGCTGGTAGGACAGTTGTTCCCAGGGACCACACTGAGGCCGGCCTTGGGGCCAGGTGCCCCTCGGCGTCCCCACCTTCACATTCCATTCTGCAGGCCCCCCGGACAGACCACCCAGCCCTGTACAGGGACCTGCTGAGGACCAGCCGCGTGCACTGGATTGCGGAGGAGCCTCCCGCAGCACTGGTCCGGGACAAGATGATGGAGTGCCACTTCCGATTCCGCCACCAGATGGCACTAGGTGACTGACGGGAGGGCTCCTGAGGACGGGCCCCTTGAAGCTGAGCTTCCTGAGGCCAGATTTGGGCCAGGGATGGGAGACCCTGGGGTAGGAAAGTCCCGTTGTGGAGATCATTTGGAGATTACCTAAAGTATTTAGAACTCCCGTGTCCTGTGCCTGCCCTGAGCGAGGCCTGGGGGTGCTGGGAGCAGATGCAGGCAGGCCCCGGCGTGTTGGGCTGAAGCAAGTGTGTACACTGCCCCGCAGTGTCCTGCTGCGTCCAGGGCCC 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Task1_train_28897 | A mutation found in ALG12 (ALG12 alpha-1,6-mannosyltransferase) on Chromosome 22 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; ALG12-congenital disorder of glycosylation | GTTGTGCTGAGAGATGCAGCCTGGACCACGGCTCGTGTGCACAGACACCACTCAGGCCTCAGGCCCCTCCTAAAAGACAGAGCCCAGGCCACAGCTCGGGTGCACACATACCACTTGGGCGTCGGGCCCCCTCCAGGCAGGACCAAGGCAGCAAGGGCCACAGGACGTTCGGTCTCTGTACCCTTTTCTTCACTGTTAAAAACAGATGGTCGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTCGGGAGGCCAAGGTGGGTAGATCACGAGGTAAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTACAAATACAAAAATTAGCTGGGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCAGGGAGTTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGTACTCCAACCTGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAACCAAAAAACAAAAAACAGACGGTCACGGGTGACACACATGTTGGGATTCGTTATGCTGTTCCATCTATGCGTGTATGTTTGACATAATTCCTAAGAAAGCACTTTTTAAATGCAGATTGTCCGGGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGTTCAAGAGTTCAAGATCAGCCTGACCAACATGGTAAAACCCCACCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGTGCGCCTATAGTCCCAGCTACTCATGAGGCTGAGGCAGGAGAATTGCTTGAACCAGGGAGGTGGAGGTTGCAGTGAGCCAAGATCATACCACTGTACTCCAGCCTGGGCGACAGAGCGAGACTCAGTCTCAAAAAAAAAAAAAAAAAAGCAGATTGTCCGAGGAGCAGAGGAGAGGCTGGGGTAATCTGGGGCAGGGCTGTTTCCAGCCCTCAGGCTGTTTCCTGGCTGAGAGAGGGCAGCCAGGACCTCACCTCCCATGGCCAGCATTTCCCAGGAGCAAGTGGGAGGGAGGGGCTCCATCCTGACCCTGCAGCCACGCTGCAGAGAAGGGAGAAGCAGCTGCTTCCACTGCCCATGGAGGCCCAGGAGATGTGGCTGCAGGTCCCACCCATCGCCCTCCTGCACGGACACTGAAGGATACCCCCCAGTTGGAGCTTTTGTTCAGGACAGTGTTGTACCAAAGCACCTTTCCTTCCGGCCAAGTGAGCTGCCGCCAAAAATAAGAGTCCACAGCAACCGTCAGTCCTGACAAAATAAAATAGAGTTTCTTAGTCGCAAACACAGCCATCAGTAAACATCCCGCCACAATGCAGCCCCCATCACTACAGAAACTACAAGCTGCTTTCATATAAAAGAGGTTGGGCAGGGTGGGAAGATTGCTGGAGCCTAGGAGTTCAAGGTTGCAGTGGGCCATGATCATGCCACTGCACTCCATCCTGGGTGACAGAGCAAGACTATCTCTAAAACAAAAAAAGAAAAAAGACACCAACTGTGTCGAGGACACCACTGCCCAGAACCACCGCCTGGCGCAGGGACAAGCCGCCCTCCACTCTTGTGGCCTCCCCCAGCCCAAGGACAAGGGACAGACCAGTGAACAGGGGCTCCTAAGGCGCACGGTGGGTCCCCCTGGAGATCCCCGGGCAGGGGGCTTAGGATTGAAATGTTTTCAACACTGCTAAATTTAGGGTCATTTTATTTCATGGGGATGAAAACCTCCCAAATTTCTCTTGACCTTTGTAAAACAAGGCAAAACAAAATCCAGTTAGAAGCATCCCACAGTGACTGACTTACCTAAACAGAGGATCCCTGCCGGGACGGCGTGGCGAAGGGCTCTGACTACAGAAACCTTTCGGTTGCCCAAGGCCAGCAGCAGCAGGAGGCCCAGGAACAGGCACAGCTCCACCCTGAACACGATGATGGCGAAGGCTGACAGCCAGATGAAGCGGGCCCACTCGTGCCGCAGCCAGGCCGCGAGGGCCAGCAGGACTGCAAGACAGTGCGGGAGGGTGCTCGTCAAGACACAGGGCCCACCCGGCCCAGAAAACACCCGGGGAAGTGAAGGGTGATTCCTTTTCCTATTATAAAAGCCACACAAATATCCCAGAAAAGAAACTGCTCAGAGCCGCTCCCCGCACCTATGCTGTTGGCCAGGAAGTGTGTCCCAACCCAGCATGGAAAACAAAGAGCCTGGTTTCAGGTCACAGACCATCCTGAGGAACCCAGTGGGGAATGGCCATTACGGGGGAGGCACTGCCATCAGCTGCACAGCCCGACTCAGGGGAGCCCCTGCCCGGCACCATGGGTGTGCAGGCCCGGCCGGCAGCTACGTACCTACAGGCAGGGCCAGCACATTGGGCAGTGTCCGCGTGCAGTAGAACATCAGGTGGAACTGCATGGCCGTCACCCAGCAGAACATGGTGGCCACCATGGCCCCGAAGTGCCGTCTCACTTCCTTTTGTAACGTCCAGAGTCCAAAAATCACGCCGAGTCCAAGCACTCCTCTAACTAAACAAAGACAGTGACAGCACCTGAGCCTGCAGTGGAGGAGTATCCAGTGGGGCCCCCTACGTGGGTCCTTCTACACAGATCTTTCTATATGGAGTTTTCTATGCTGCTGCAATGCCAGCTGACGGCTACGTCAGGCAAAGCAGCCTTGAGGGCATCGTCTCCATGTTGAAAACAGACGACTGGACCCAGGCCCCCTGCGCTCCTGTCGGGAACTGAGGACCCTTGCGGGGGCTGCTCTCTGAAGCATGAGGGAGGACACACAACTTGGGGGTGCCACGAGCTGAGCCCTACACTAAACCAGAGACCCCACCGGGCTGTGGCATCTCCAGGGGAAATGTTTGCAAAGGCCGGGCTCAGACCTTGCTCTAACCAGCAGCCATGAGGAGGTGGGATGTGGCAGGAACACAGGCTCCCAGGCAGGAAGGGGGTCAGGACCCCTCTCCCCATTTGACAGCAGGAGCCACCTCTGGGCTGGTGGTCTGATGAGGAGGTGGTGAGGGGGCAGGTGTGCCCAGGACAGTACCCAGCCGACCACACATCCTCACCGTGGACCGGCCTGTCAGCCGCTGGCAAGAGACTGAAAACAGGAAGAAAAATGAACTTCTGGGTGGCTCTTGCTACCTTTCCAGAAGGCCAGAGGAACTTCGAAGCCATGTGAGAAGCAACTGGGTCCAGGCAGCTGTGGGGGCCAATGGGCAGAGATACCCAGGCACTGCCAAGGGGGCCACGGATGTCTGAGGGCTGGACCTGCTGTTCCCAGAATACCCCATGTGCATACCAGGCATTTTCTTTTCACTGATTGCTGGATTCGGACTGCAAATGTCTTTTTTTTTTTCTTTTTAAGGACAGAGTTTCCCTCTGTTGCTCAGGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCTGCCTTCCGGGTTCAAGCAATTCTCCTACCTCAGCCTCCGGAGTAGCTGGGATTATAGGCGCATGCCAACACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCCCATGTTGGCCAGGATGGTCTCAAACTCCTGACCTCAGGTGATCCCCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGTCTGAATGTCTTAATAGGACATTTTTCACTGATACTCACAAGTGGGTCTGGCTCCAGCTGCTGTATTTTTGGTGCTGGAATTTCCCCCGGGCTTTTAAACAATTCACAGACCCCAGCAAAGCCCCGCTTCCCCTTTTCCCCATCAGGTCCATCCCCTGCGTCTCTTCTCTTGGTTTTCCATCTTCCCAAATGCCCAACAATCTCAACCCCGTGCCCAACAAGGGTAGCCTCGGCCTCACGATCAGCCTCGGCTGCGGGATCACCCTCGGCCCCGGGATCAGCCTCGGCCACGGGATCACCCTCGGCCCCGGGATCAGCCTCGGCCGCGGGATCAGCCTGGCCCCGGGATCACCCTCGGCCCCGGGATCACCCTCGGCCCCGGGATCAGCCTGGCCCCAGGA 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GTTGTGCTGAGAGATGCAGCCTGGACCACGGCTCGTGTGCACAGACACCACTCAGGCCTCAGGCCCCTCCTAAAAGACAGAGCCCAGGCCACAGCTCGGGTGCACACATACCACTTGGGCGTCGGGCCCCCTCCAGGCAGGACCAAGGCAGCAAGGGCCACAGGACGTTCGGTCTCTGTACCCTTTTCTTCACTGTTAAAAACAGATGGTCGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTCGGGAGGCCAAGGTGGGTAGATCACGAGGTAAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTACAAATACAAAAATTAGCTGGGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCAGGGAGTTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGTACTCCAACCTGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAACCAAAAAACAAAAAACAGACGGTCACGGGTGACACACATGTTGGGATTCGTTATGCTGTTCCATCTATGCGTGTATGTTTGACATAATTCCTAAGAAAGCACTTTTTAAATGCAGATTGTCCGGGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGTTCAAGAGTTCAAGATCAGCCTGACCAACATGGTAAAACCCCACCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGTGCGCCTATAGTCCCAGCTACTCATGAGGCTGAGGCAGGAGAATTGCTTGAACCAGGGAGGTGGAGGTTGCAGTGAGCCAAGATCATACCACTGTACTCCAGCCTGGGCGACAGAGCGAGACTCAGTCTCAAAAAAAAAAAAAAAAAAGCAGATTGTCCGAGGAGCAGAGGAGAGGCTGGGGTAATCTGGGGCAGGGCTGTTTCCAGCCCTCAGGCTGTTTCCTGGCTGAGAGAGGGCAGCCAGGACCTCACCTCCCATGGCCAGCATTTCCCAGGAGCAAGTGGGAGGGAGGGGCTCCATCCTGACCCTGCAGCCACGCTGCAGAGAAGGGAGAAGCAGCTGCTTCCACTGCCCATGGAGGCCCAGGAGATGTGGCTGCAGGTCCCACCCATCGCCCTCCTGCACGGACACTGAAGGATACCCCCCAGTTGGAGCTTTTGTTCAGGACAGTGTTGTACCAAAGCACCTTTCCTTCCGGCCAAGTGAGCTGCCGCCAAAAATAAGAGTCCACAGCAACCGTCAGTCCTGACAAAATAAAATAGAGTTTCTTAGTCGCAAACACAGCCATCAGTAAACATCCCGCCACAATGCAGCCCCCATCACTACAGAAACTACAAGCTGCTTTCATATAAAAGAGGTTGGGCAGGGTGGGAAGATTGCTGGAGCCTAGGAGTTCAAGGTTGCAGTGGGCCATGATCATGCCACTGCACTCCATCCTGGGTGACAGAGCAAGACTATCTCTAAAACAAAAAAAGAAAAAAGACACCAACTGTGTCGAGGACACCACTGCCCAGAACCACCGCCTGGCGCAGGGACAAGCCGCCCTCCACTCTTGTGGCCTCCCCCAGCCCAAGGACAAGGGACAGACCAGTGAACAGGGGCTCCTAAGGCGCACGGTGGGTCCCCCTGGAGATCCCCGGGCAGGGGGCTTAGGATTGAAATGTTTTCAACACTGCTAAATTTAGGGTCATTTTATTTCATGGGGATGAAAACCTCCCAAATTTCTCTTGACCTTTGTAAAACAAGGCAAAACAAAATCCAGTTAGAAGCATCCCACAGTGACTGACTTACCTAAACAGAGGATCCCTGCCGGGACGGCGTGGCGAAGGGCTCTGACTACAGAAACCTTTCGGTTGCCCAAGGCCAGCAGCAGCAGGAGGCCCAGGAACAGGCACAGCTCCACCCTGAACACGATGATGGCGAAGGCTGACAGCCAGATGAAGCGGGCCCACTCGTGCCGCAGCCAGGCCGCGAGGGCCAGCGGGACTGCAAGACAGTGCGGGAGGGTGCTCGTCAAGACACAGGGCCCACCCGGCCCAGAAAACACCCGGGGAAGTGAAGGGTGATTCCTTTTCCTATTATAAAAGCCACACAAATATCCCAGAAAAGAAACTGCTCAGAGCCGCTCCCCGCACCTATGCTGTTGGCCAGGAAGTGTGTCCCAACCCAGCATGGAAAACAAAGAGCCTGGTTTCAGGTCACAGACCATCCTGAGGAACCCAGTGGGGAATGGCCATTACGGGGGAGGCACTGCCATCAGCTGCACAGCCCGACTCAGGGGAGCCCCTGCCCGGCACCATGGGTGTGCAGGCCCGGCCGGCAGCTACGTACCTACAGGCAGGGCCAGCACATTGGGCAGTGTCCGCGTGCAGTAGAACATCAGGTGGAACTGCATGGCCGTCACCCAGCAGAACATGGTGGCCACCATGGCCCCGAAGTGCCGTCTCACTTCCTTTTGTAACGTCCAGAGTCCAAAAATCACGCCGAGTCCAAGCACTCCTCTAACTAAACAAAGACAGTGACAGCACCTGAGCCTGCAGTGGAGGAGTATCCAGTGGGGCCCCCTACGTGGGTCCTTCTACACAGATCTTTCTATATGGAGTTTTCTATGCTGCTGCAATGCCAGCTGACGGCTACGTCAGGCAAAGCAGCCTTGAGGGCATCGTCTCCATGTTGAAAACAGACGACTGGACCCAGGCCCCCTGCGCTCCTGTCGGGAACTGAGGACCCTTGCGGGGGCTGCTCTCTGAAGCATGAGGGAGGACACACAACTTGGGGGTGCCACGAGCTGAGCCCTACACTAAACCAGAGACCCCACCGGGCTGTGGCATCTCCAGGGGAAATGTTTGCAAAGGCCGGGCTCAGACCTTGCTCTAACCAGCAGCCATGAGGAGGTGGGATGTGGCAGGAACACAGGCTCCCAGGCAGGAAGGGGGTCAGGACCCCTCTCCCCATTTGACAGCAGGAGCCACCTCTGGGCTGGTGGTCTGATGAGGAGGTGGTGAGGGGGCAGGTGTGCCCAGGACAGTACCCAGCCGACCACACATCCTCACCGTGGACCGGCCTGTCAGCCGCTGGCAAGAGACTGAAAACAGGAAGAAAAATGAACTTCTGGGTGGCTCTTGCTACCTTTCCAGAAGGCCAGAGGAACTTCGAAGCCATGTGAGAAGCAACTGGGTCCAGGCAGCTGTGGGGGCCAATGGGCAGAGATACCCAGGCACTGCCAAGGGGGCCACGGATGTCTGAGGGCTGGACCTGCTGTTCCCAGAATACCCCATGTGCATACCAGGCATTTTCTTTTCACTGATTGCTGGATTCGGACTGCAAATGTCTTTTTTTTTTTCTTTTTAAGGACAGAGTTTCCCTCTGTTGCTCAGGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCTGCCTTCCGGGTTCAAGCAATTCTCCTACCTCAGCCTCCGGAGTAGCTGGGATTATAGGCGCATGCCAACACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCCCATGTTGGCCAGGATGGTCTCAAACTCCTGACCTCAGGTGATCCCCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGTCTGAATGTCTTAATAGGACATTTTTCACTGATACTCACAAGTGGGTCTGGCTCCAGCTGCTGTATTTTTGGTGCTGGAATTTCCCCCGGGCTTTTAAACAATTCACAGACCCCAGCAAAGCCCCGCTTCCCCTTTTCCCCATCAGGTCCATCCCCTGCGTCTCTTCTCTTGGTTTTCCATCTTCCCAAATGCCCAACAATCTCAACCCCGTGCCCAACAAGGGTAGCCTCGGCCTCACGATCAGCCTCGGCTGCGGGATCACCCTCGGCCCCGGGATCAGCCTCGGCCACGGGATCACCCTCGGCCCCGGGATCAGCCTCGGCCGCGGGATCAGCCTGGCCCCGGGATCACCCTCGGCCCCGGGATCACCCTCGGCCCCGGGATCAGCCTGGCCCCAGGA 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Task1_train_28898 | A mutation found in ALG12 (ALG12 alpha-1,6-mannosyltransferase) on Chromosome 22 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; ALG12-congenital disorder of glycosylation | GGCAGGAGAATCACTTGAACCAGGGAGTTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGTACTCCAACCTGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAACCAAAAAACAAAAAACAGACGGTCACGGGTGACACACATGTTGGGATTCGTTATGCTGTTCCATCTATGCGTGTATGTTTGACATAATTCCTAAGAAAGCACTTTTTAAATGCAGATTGTCCGGGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGTTCAAGAGTTCAAGATCAGCCTGACCAACATGGTAAAACCCCACCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGTGCGCCTATAGTCCCAGCTACTCATGAGGCTGAGGCAGGAGAATTGCTTGAACCAGGGAGGTGGAGGTTGCAGTGAGCCAAGATCATACCACTGTACTCCAGCCTGGGCGACAGAGCGAGACTCAGTCTCAAAAAAAAAAAAAAAAAAGCAGATTGTCCGAGGAGCAGAGGAGAGGCTGGGGTAATCTGGGGCAGGGCTGTTTCCAGCCCTCAGGCTGTTTCCTGGCTGAGAGAGGGCAGCCAGGACCTCACCTCCCATGGCCAGCATTTCCCAGGAGCAAGTGGGAGGGAGGGGCTCCATCCTGACCCTGCAGCCACGCTGCAGAGAAGGGAGAAGCAGCTGCTTCCACTGCCCATGGAGGCCCAGGAGATGTGGCTGCAGGTCCCACCCATCGCCCTCCTGCACGGACACTGAAGGATACCCCCCAGTTGGAGCTTTTGTTCAGGACAGTGTTGTACCAAAGCACCTTTCCTTCCGGCCAAGTGAGCTGCCGCCAAAAATAAGAGTCCACAGCAACCGTCAGTCCTGACAAAATAAAATAGAGTTTCTTAGTCGCAAACACAGCCATCAGTAAACATCCCGCCACAATGCAGCCCCCATCACTACAGAAACTACAAGCTGCTTTCATATAAAAGAGGTTGGGCAGGGTGGGAAGATTGCTGGAGCCTAGGAGTTCAAGGTTGCAGTGGGCCATGATCATGCCACTGCACTCCATCCTGGGTGACAGAGCAAGACTATCTCTAAAACAAAAAAAGAAAAAAGACACCAACTGTGTCGAGGACACCACTGCCCAGAACCACCGCCTGGCGCAGGGACAAGCCGCCCTCCACTCTTGTGGCCTCCCCCAGCCCAAGGACAAGGGACAGACCAGTGAACAGGGGCTCCTAAGGCGCACGGTGGGTCCCCCTGGAGATCCCCGGGCAGGGGGCTTAGGATTGAAATGTTTTCAACACTGCTAAATTTAGGGTCATTTTATTTCATGGGGATGAAAACCTCCCAAATTTCTCTTGACCTTTGTAAAACAAGGCAAAACAAAATCCAGTTAGAAGCATCCCACAGTGACTGACTTACCTAAACAGAGGATCCCTGCCGGGACGGCGTGGCGAAGGGCTCTGACTACAGAAACCTTTCGGTTGCCCAAGGCCAGCAGCAGCAGGAGGCCCAGGAACAGGCACAGCTCCACCCTGAACACGATGATGGCGAAGGCTGACAGCCAGATGAAGCGGGCCCACTCGTGCCGCAGCCAGGCCGCGAGGGCCAGCAGGACTGCAAGACAGTGCGGGAGGGTGCTCGTCAAGACACAGGGCCCACCCGGCCCAGAAAACACCCGGGGAAGTGAAGGGTGATTCCTTTTCCTATTATAAAAGCCACACAAATATCCCAGAAAAGAAACTGCTCAGAGCCGCTCCCCGCACCTATGCTGTTGGCCAGGAAGTGTGTCCCAACCCAGCATGGAAAACAAAGAGCCTGGTTTCAGGTCACAGACCATCCTGAGGAACCCAGTGGGGAATGGCCATTACGGGGGAGGCACTGCCATCAGCTGCACAGCCCGACTCAGGGGAGCCCCTGCCCGGCACCATGGGTGTGCAGGCCCGGCCGGCAGCTACGTACCTACAGGCAGGGCCAGCACATTGGGCAGTGTCCGCGTGCAGTAGAACATCAGGTGGAACTGCATGGCCGTCACCCAGCAGAACATGGTGGCCACCATGGCCCCGAAGTGCCGTCTCACTTCCTTTTGTAACGTCCAGAGTCCAAAAATCACGCCGAGTCCAAGCACTCCTCTAACTAAACAAAGACAGTGACAGCACCTGAGCCTGCAGTGGAGGAGTATCCAGTGGGGCCCCCTACGTGGGTCCTTCTACACAGATCTTTCTATATGGAGTTTTCTATGCTGCTGCAATGCCAGCTGACGGCTACGTCAGGCAAAGCAGCCTTGAGGGCATCGTCTCCATGTTGAAAACAGACGACTGGACCCAGGCCCCCTGCGCTCCTGTCGGGAACTGAGGACCCTTGCGGGGGCTGCTCTCTGAAGCATGAGGGAGGACACACAACTTGGGGGTGCCACGAGCTGAGCCCTACACTAAACCAGAGACCCCACCGGGCTGTGGCATCTCCAGGGGAAATGTTTGCAAAGGCCGGGCTCAGACCTTGCTCTAACCAGCAGCCATGAGGAGGTGGGATGTGGCAGGAACACAGGCTCCCAGGCAGGAAGGGGGTCAGGACCCCTCTCCCCATTTGACAGCAGGAGCCACCTCTGGGCTGGTGGTCTGATGAGGAGGTGGTGAGGGGGCAGGTGTGCCCAGGACAGTACCCAGCCGACCACACATCCTCACCGTGGACCGGCCTGTCAGCCGCTGGCAAGAGACTGAAAACAGGAAGAAAAATGAACTTCTGGGTGGCTCTTGCTACCTTTCCAGAAGGCCAGAGGAACTTCGAAGCCATGTGAGAAGCAACTGGGTCCAGGCAGCTGTGGGGGCCAATGGGCAGAGATACCCAGGCACTGCCAAGGGGGCCACGGATGTCTGAGGGCTGGACCTGCTGTTCCCAGAATACCCCATGTGCATACCAGGCATTTTCTTTTCACTGATTGCTGGATTCGGACTGCAAATGTCTTTTTTTTTTTCTTTTTAAGGACAGAGTTTCCCTCTGTTGCTCAGGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCTGCCTTCCGGGTTCAAGCAATTCTCCTACCTCAGCCTCCGGAGTAGCTGGGATTATAGGCGCATGCCAACACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCCCATGTTGGCCAGGATGGTCTCAAACTCCTGACCTCAGGTGATCCCCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGTCTGAATGTCTTAATAGGACATTTTTCACTGATACTCACAAGTGGGTCTGGCTCCAGCTGCTGTATTTTTGGTGCTGGAATTTCCCCCGGGCTTTTAAACAATTCACAGACCCCAGCAAAGCCCCGCTTCCCCTTTTCCCCATCAGGTCCATCCCCTGCGTCTCTTCTCTTGGTTTTCCATCTTCCCAAATGCCCAACAATCTCAACCCCGTGCCCAACAAGGGTAGCCTCGGCCTCACGATCAGCCTCGGCTGCGGGATCACCCTCGGCCCCGGGATCAGCCTCGGCCACGGGATCACCCTCGGCCCCGGGATCAGCCTCGGCCGCGGGATCAGCCTGGCCCCGGGATCACCCTCGGCCCCGGGATCACCCTCGGCCCCGGGATCAGCCTGGCCCCAGGATCACCCTCGGCCCCGGGATCACCCTCGGCCCCAGGATGACATGCTCTTCATCCAGAGAGGAAGGATTTTGGCCTGTGGCAGGGGCTGGGGGGGGCACTAGCAATTCCAGGTCACCTTAGTGGGATCAGGAAGGACACAGGGTGGGCTCCCGTTCACCAGCTGAAGCTGCAGCCCTCCAAGGTTCTGTCCAGCTGGAGTCCACCCAGCTCTGCCCAACCTCCCAACCTCTTGCTGCCAACCCTGGAATAAGCAGAAGCTTCCAAGGGAATGTGGACTCAGCCCCGGAATTGCCTGTGGACTTCCTTTCCCTGGCTCGTGGCCCCCCAACTCCTCCCCATTTGGGGCTTCCTGATGCCTCTACAGGACATGCACGGCTTGTCCAGCTGTCCCCGTG 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GGCAGGAGAATCACTTGAACCAGGGAGTTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGTACTCCAACCTGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAACCAAAAAACAAAAAACAGACGGTCACGGGTGACACACATGTTGGGATTCGTTATGCTGTTCCATCTATGCGTGTATGTTTGACATAATTCCTAAGAAAGCACTTTTTAAATGCAGATTGTCCGGGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGTTCAAGAGTTCAAGATCAGCCTGACCAACATGGTAAAACCCCACCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGTGCGCCTATAGTCCCAGCTACTCATGAGGCTGAGGCAGGAGAATTGCTTGAACCAGGGAGGTGGAGGTTGCAGTGAGCCAAGATCATACCACTGTACTCCAGCCTGGGCGACAGAGCGAGACTCAGTCTCAAAAAAAAAAAAAAAAAAGCAGATTGTCCGAGGAGCAGAGGAGAGGCTGGGGTAATCTGGGGCAGGGCTGTTTCCAGCCCTCAGGCTGTTTCCTGGCTGAGAGAGGGCAGCCAGGACCTCACCTCCCATGGCCAGCATTTCCCAGGAGCAAGTGGGAGGGAGGGGCTCCATCCTGACCCTGCAGCCACGCTGCAGAGAAGGGAGAAGCAGCTGCTTCCACTGCCCATGGAGGCCCAGGAGATGTGGCTGCAGGTCCCACCCATCGCCCTCCTGCACGGACACTGAAGGATACCCCCCAGTTGGAGCTTTTGTTCAGGACAGTGTTGTACCAAAGCACCTTTCCTTCCGGCCAAGTGAGCTGCCGCCAAAAATAAGAGTCCACAGCAACCGTCAGTCCTGACAAAATAAAATAGAGTTTCTTAGTCGCAAACACAGCCATCAGTAAACATCCCGCCACAATGCAGCCCCCATCACTACAGAAACTACAAGCTGCTTTCATATAAAAGAGGTTGGGCAGGGTGGGAAGATTGCTGGAGCCTAGGAGTTCAAGGTTGCAGTGGGCCATGATCATGCCACTGCACTCCATCCTGGGTGACAGAGCAAGACTATCTCTAAAACAAAAAAAGAAAAAAGACACCAACTGTGTCGAGGACACCACTGCCCAGAACCACCGCCTGGCGCAGGGACAAGCCGCCCTCCACTCTTGTGGCCTCCCCCAGCCCAAGGACAAGGGACAGACCAGTGAACAGGGGCTCCTAAGGCGCACGGTGGGTCCCCCTGGAGATCCCCGGGCAGGGGGCTTAGGATTGAAATGTTTTCAACACTGCTAAATTTAGGGTCATTTTATTTCATGGGGATGAAAACCTCCCAAATTTCTCTTGACCTTTGTAAAACAAGGCAAAACAAAATCCAGTTAGAAGCATCCCACAGTGACTGACTTACCTAAACAGAGGATCCCTGCCGGGACGGCGTGGCGAAGGGCTCTGACTACAGAAACCTTTCGGTTGCCCAAGGCCAGCAGCAGCAGGAGGCCCAGGAACAGGCACAGCTCCACCCTGAACACGATGATGGCGAAGGCTGACAGCCAGATGAAGCGGGCCCACTCGTGCCGCAGCCAGGCCGCGAGGGCCAGCAGGACTGCAAGACAGTGCGGGAGGGTGCTCGTCAAGACACAGGGCCCACCCGGCCCAGAAAACACCCGGGGAAGTGAAGGGTGATTCCTTTTCCTATTATAAAAGCCACACAAATATCCCAGAAAAGAAACTGCTCAGAGCCGCTCCCCGCACCTATGCTGTTGGCCAGGAAGTGTGTCCCAACCCAGCATGGAAAACAAAGAGCCTGGTTTCAGGTCACAGACCATCCTGAGGAACCCAGTGGGGAATGGCCATTACGGGGGAGGCACTGCCATCAGCTGCACAGCCCGACTCAGGGGAGCCCCTGCCCGGCACCATGGGTGTGCAGGCCCGGCCGGCAGCTACGTACCTACAGGCAGGGCCAGCACATTGGGCAGTGTCCGCGTGCAGTAGACCATCAGGTGGAACTGCATGGCCGTCACCCAGCAGAACATGGTGGCCACCATGGCCCCGAAGTGCCGTCTCACTTCCTTTTGTAACGTCCAGAGTCCAAAAATCACGCCGAGTCCAAGCACTCCTCTAACTAAACAAAGACAGTGACAGCACCTGAGCCTGCAGTGGAGGAGTATCCAGTGGGGCCCCCTACGTGGGTCCTTCTACACAGATCTTTCTATATGGAGTTTTCTATGCTGCTGCAATGCCAGCTGACGGCTACGTCAGGCAAAGCAGCCTTGAGGGCATCGTCTCCATGTTGAAAACAGACGACTGGACCCAGGCCCCCTGCGCTCCTGTCGGGAACTGAGGACCCTTGCGGGGGCTGCTCTCTGAAGCATGAGGGAGGACACACAACTTGGGGGTGCCACGAGCTGAGCCCTACACTAAACCAGAGACCCCACCGGGCTGTGGCATCTCCAGGGGAAATGTTTGCAAAGGCCGGGCTCAGACCTTGCTCTAACCAGCAGCCATGAGGAGGTGGGATGTGGCAGGAACACAGGCTCCCAGGCAGGAAGGGGGTCAGGACCCCTCTCCCCATTTGACAGCAGGAGCCACCTCTGGGCTGGTGGTCTGATGAGGAGGTGGTGAGGGGGCAGGTGTGCCCAGGACAGTACCCAGCCGACCACACATCCTCACCGTGGACCGGCCTGTCAGCCGCTGGCAAGAGACTGAAAACAGGAAGAAAAATGAACTTCTGGGTGGCTCTTGCTACCTTTCCAGAAGGCCAGAGGAACTTCGAAGCCATGTGAGAAGCAACTGGGTCCAGGCAGCTGTGGGGGCCAATGGGCAGAGATACCCAGGCACTGCCAAGGGGGCCACGGATGTCTGAGGGCTGGACCTGCTGTTCCCAGAATACCCCATGTGCATACCAGGCATTTTCTTTTCACTGATTGCTGGATTCGGACTGCAAATGTCTTTTTTTTTTTCTTTTTAAGGACAGAGTTTCCCTCTGTTGCTCAGGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCTGCCTTCCGGGTTCAAGCAATTCTCCTACCTCAGCCTCCGGAGTAGCTGGGATTATAGGCGCATGCCAACACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCCCATGTTGGCCAGGATGGTCTCAAACTCCTGACCTCAGGTGATCCCCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGTCTGAATGTCTTAATAGGACATTTTTCACTGATACTCACAAGTGGGTCTGGCTCCAGCTGCTGTATTTTTGGTGCTGGAATTTCCCCCGGGCTTTTAAACAATTCACAGACCCCAGCAAAGCCCCGCTTCCCCTTTTCCCCATCAGGTCCATCCCCTGCGTCTCTTCTCTTGGTTTTCCATCTTCCCAAATGCCCAACAATCTCAACCCCGTGCCCAACAAGGGTAGCCTCGGCCTCACGATCAGCCTCGGCTGCGGGATCACCCTCGGCCCCGGGATCAGCCTCGGCCACGGGATCACCCTCGGCCCCGGGATCAGCCTCGGCCGCGGGATCAGCCTGGCCCCGGGATCACCCTCGGCCCCGGGATCACCCTCGGCCCCGGGATCAGCCTGGCCCCAGGATCACCCTCGGCCCCGGGATCACCCTCGGCCCCAGGATGACATGCTCTTCATCCAGAGAGGAAGGATTTTGGCCTGTGGCAGGGGCTGGGGGGGGCACTAGCAATTCCAGGTCACCTTAGTGGGATCAGGAAGGACACAGGGTGGGCTCCCGTTCACCAGCTGAAGCTGCAGCCCTCCAAGGTTCTGTCCAGCTGGAGTCCACCCAGCTCTGCCCAACCTCCCAACCTCTTGCTGCCAACCCTGGAATAAGCAGAAGCTTCCAAGGGAATGTGGACTCAGCCCCGGAATTGCCTGTGGACTTCCTTTCCCTGGCTCGTGGCCCCCCAACTCCTCCCCATTTGGGGCTTCCTGATGCCTCTACAGGACATGCACGGCTTGTCCAGCTGTCCCCGTG 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Task1_train_28899 | This mutation occurs in MLC1 (modulator of VRAC current 1) on Chromosome 22. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Megalencephalic leukoencephalopathy with subcortical cysts | GTCTGTAATCCTAGCACTTTGGGAGGCCGAGACAGGCAGATCACTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTGCTAAAAGTACAAAAATTAGCCGGGTGTGTTGGCATATGCCTGTAATCCCAGATGCTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGTGCCACTGCACTCCAGCCTGGGAGACAGAGTGAGACTCTATCTTAAAAAAAAAAAAATGGCAAGGTACAGAATAGTGATTCTAGTATACAAGCTATTTTGTAAGAAAGAAAAAAAAATTATCATCTGGTTGCCCATAAGAGGAGCAGGTCAGTCAGGCATGAGACCACAGCTTTTCTGAGCTCGTCTTTTATAGTTTGGCTTTTGAACCACATAAATATTTTATATATTCAAAAAATACCATTTTAAAAAGAAAAAAAGCACCAAGCCCTAAAATGGAATACAACCAGAGGCCATTAAACTTAATGGGGTATCGAACCCAGAGGATAACCCCACACAGAAAGGGGCCGACTTCGATGGCGTGTGGCCGTCCCCTGCTAGCAGAATGCATGCTGAAGATAAAAGGGAAGCCTCAGGCTCACTCAGGAGATGGCCCCTGGGTGGTAATATTGTCTCTTGTAATCGTGAACAATTATATGCATATTGTAAGACAACATGAAGTAGGAGATATATTAAATGTCACAGGAAACAAAATAATTGGAGTAGGAGTGGGTGAAGCAAACACAAGAGAAGTGAAGAAAAAACCCTGGGCCGGGTGTTGTAGCTCACTCCTGTAATCCCAGCACCTGTGGGAGGCCGAGGACGCTATCCCCCTTCAGACAGTGACTCCATGCCCCCATCAGACAGTGACTCCATCCCCCATCAGACAGTGACTCCATTACCCCATTAGACAGTGACTCCATCCCCCGTCAGACAGTGACTCCATCCCCCGTCAGACAGTGACTCCATCCCCCGTCAGGCAGTGACTCTATCCCCTGTCAGGCAGTGACTCCATCCCCCGTCAGGCAGTGACTCCATCCCCCCATCAGGCAGTGACTCTATCCCCTGTCAGGCAGTGACTCCATCCCCCTGTCAGGCAGTGACTCCATCCCCCCATCAGGCAGTGACTCCATCCCCCCGTCAGGCAGTGACTCCATCCCCCGTCAGGCAGTGACTCCATCCCCCATCAGTGACTCCATCCCCCATCAGACAGTGACTCCATCCCCCATCAGACAGTGACTCCATCCCCCATCAGGCAGTGACCCCATCCTCCATCAGACAGTGACTCCATCCATCCATCAGACAGTGACTCCATCCATCCATCAGACAGTGACTCCATCCCCCATCAGACAGTGACTCCATCCCCCATCAGACAGTGACTCCATCCCCCATCAGACAGTGACTCCATCCCCCCATCAGGCAGTGACTCCATTCCCCATCAGCACACGCATGTTGACCTGGAGCAAACAGCTTAATACAGGTCTTCTAATGATTTGGGTGCAAAACCACTTATACTGGAAAAAAAAAAACAAAAAAACAAAAAAACACTAGGTATCTAAGAAATACATCTAGCTACACGTGCCTGAGCCTCAGAAGTCGTGTTGGAGATAAGCTCCTACTGGGTCAGCTCAAAGTAACAGGACTTTGAATTCTCCTTAAATTCACCTGTTAAACTCAATGCAGTTCTGATGCAAATCCGAAAAGCATGTCTCATAAACCCAGGACAGATTCTAAAATGGGCTCAGGGACAGAGTGGGTCCCAGGTCCCTGTGAAGCAGGTGGTGGCCCCAGATACAGGGCGGAATCGAGGCCCCGAGGCCCTGGGGCCAGGCTGGCATTGGGGAGCACGGTCACCGCTGCCCAGGAACAGCGGAGGAGGTGCCTCCTGGAGCTGTCCCTGGAGCCAGCGCCCCCAGAGTCCCAGGCAAAGCCAGCAAGGGCCAGGCCAACACGCAGAGCACCACATGTCTGGGGGGCTCTGAAATAAAATACAACTCACTTTTATGGCTGGCGGGTAATCCTTAAACATCTCCACGATTCTCATGATGCTGAATGACAGATATCCAGAGGCTGTGAACAGCAGCGGAGACGTGAGGCTGCTTATGGCAATCAGGACCTCCACCTGGAAAAAAAGCGCGGGTTGCAGGACCACGGCCGGAGCCTGGGAGCCCAGGACAGCGGGCGTGGCCAGGGCTGGGGGGGCGGGCATGGCCGGGCACTCATGGGCATAGTCCCAAGCTGGTTCCCTGCATGACTCCTGCTGAAACCTCTGCCTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACAAGTCTCGCTGTGTCGCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGTAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACCGTGTTTTGCCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACCGCGCCCGGCCTGCCTTTCTTTCTTTTTTGAGAGGCAGCCTAGCTGTGTAGCCCAGGCAGGAGTGCGGTGGCACAATCTCTGATCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCCGCCTCGGCCTCTTGAGTAGCTGGGATTACAGACATGCGCCACCACACCTGGCTAATTGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGTCAGGCTGGTCTTCAACTCCTGACCTTGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCAGCCTGCCTTTTCATTCACAGCACAGTGCCACAAGTTTTGAAATACTTACCATCTAGGCAAGGTGGCTCACATCTGTAATCCAAGCACTTTGGGAGGCCGAGGAGGGCGGATCACCTGAGGTCACGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACTAAAGATACAAAAACTAAGCGGGTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTACAATGAGCTGAGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAACAAACAAAACCAAGAAACAAAAAACATTTACCTGCAATTCTCCACTCTTGAAAAAATAGCCCTTCCGCATGGGTCACCTCCTTCACTGCTCTGAAGTCTGTCCTTTTAACCCACCCCAAATCTTCCTGTTTGACCCATCAAGTCTCAGAGACAGCCTTCACTCATGCCAAGCATGGGCAGTCACCTTGCAAAGCACTCAGGGTCCACATTTTGGCAGCAGTCATTAACGATCGACCAGTTCAATTGTTTGCGGTCAGTTTGTGGCAGTTTCGGCCGGGCGTGGTGGCTCACACCGGTAATCCCAGCACTTTGGGAGGTTGAGGTGAGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAGACTGCATCTCAAAAAAGAAAAAAAAACAATCGACCAGCCTTAGGAGGTGCAGATGATGCTCAGACACTGGTCTCCTTCCAAGGGTTAGGCACAGAGAGCGCTTCCAGTGTCTACACCACCTTGTTCAGGTCTGCCTGTCCCTGAGAACAGTCCCTGCTGAGCGGGCCAGCCTCCACCTCCCACAACCCCACCTTCCTCATTGTGCAGGCCCTGCAGCCCAGTCACTGCGCTCTCTTGGGCTGGAGCCTGGTCACATGGCACCAAGGGAGGGCTAGGCCAGGCCCTGGCCCCGCTCGGTGGG 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GTCTGTAATCCTAGCACTTTGGGAGGCCGAGACAGGCAGATCACTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTGCTAAAAGTACAAAAATTAGCCGGGTGTGTTGGCATATGCCTGTAATCCCAGATGCTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGTGCCACTGCACTCCAGCCTGGGAGACAGAGTGAGACTCTATCTTAAAAAAAAAAAAATGGCAAGGTACAGAATAGTGATTCTAGTATACAAGCTATTTTGTAAGAAAGAAAAAAAAATTATCATCTGGTTGCCCATAAGAGGAGCAGGTCAGTCAGGCATGAGACCACAGCTTTTCTGAGCTCGTCTTTTATAGTTTGGCTTTTGAACCACATAAATATTTTATATATTCAAAAAATACCATTTTAAAAAGAAAAAAAGCACCAAGCCCTAAAATGGAATACAACCAGAGGCCATTAAACTTAATGGGGTATCGAACCCAGAGGATAACCCCACACAGAAAGGGGCCGACTTCGATGGCGTGTGGCCGTCCCCTGCTAGCAGAATGCATGCTGAAGATAAAAGGGAAGCCTCAGGCTCACTCAGGAGATGGCCCCTGGGTGGTAATATTGTCTCTTGTAATCGTGAACAATTATATGCATATTGTAAGACAACATGAAGTAGGAGATATATTAAATGTCACAGGAAACAAAATAATTGGAGTAGGAGTGGGTGAAGCAAACACAAGAGAAGTGAAGAAAAAACCCTGGGCCGGGTGTTGTAGCTCACTCCTGTAATCCCAGCACCTGTGGGAGGCCGAGGACGCTATCCCCCTTCAGACAGTGACTCCATGCCCCCATCAGACAGTGACTCCATCCCCCATCAGACAGTGACTCCATTACCCCATTAGACAGTGACTCCATCCCCCGTCAGACAGTGACTCCATCCCCCGTCAGACAGTGACTCCATCCCCCGTCAGGCAGTGACTCTATCCCCTGTCAGGCAGTGACTCCATCCCCCGTCAGGCAGTGACTCCATCCCCCCATCAGGCAGTGACTCTATCCCCTGTCAGGCAGTGACTCCATCCCCCTGTCAGGCAGTGACTCCATCCCCCCATCAGGCAGTGACTCCATCCCCCCGTCAGGCAGTGACTCCATCCCCCGTCAGGCAGTGACTCCATCCCCCATCAGTGACTCCATCCCCCATCAGACAGTGACTCCATCCCCCATCAGACAGTGACTCCATCCCCCATCAGGCAGTGACCCCATCCTCCATCAGACAGTGACTCCATCCATCCATCAGACAGTGACTCCATCCATCCATCAGACAGTGACTCCATCCCCCATCAGACAGTGACTCCATCCCCCATCAGACAGTGACTCCATCCCCCATCAGACAGTGACTCCATCCCCCCATCAGGCAGTGACTCCATTCCCCATCAGCACACGCATGTTGACCTGGAGCAAACAGCTTAATACAGGTCTTCTAATGATTTGGGTGCAAAACCACTTATACTGGAAAAAAAAAAACAAAAAAACAAAAAAACACTAGGTATCTAAGAAATACATCTAGCTACACGTGCCTGAGCCTCAGAAGTCGTGTTGGAGATAAGCTCCTACTGGGTCAGCTCAAAGTAACAGGACTTTGAATTCTCCTTAAATTCACCTGTTAAACTCAATGCAGTTCTGATGCAAATCCGAAAAGCATGTCTCATAAACCCAGGACAGATTCTAAAATGGGCTCAGGGACAGAGTGGGTCCCAGGTCCCTGTGAAGCAGGTGGTGGCCCCAGATACAGGGCGGAATCGAGGCCCCGAGGCCCTGGGGCCAGGCTGGCATTGGGGAGCACGGTCACCGCTGCCCAGGAACAGCGGAGGAGGTGCCTCCTGGAGCTGTCCCTGGAGCCAGCGCCCCCAGAGTCCCAGGCAAAGCCAGCAAGGGCCAGGCCAACACGCAGAGCACCACATGTCTGGGGGGCTCTGAAATAAAATACAACTCACTTTTATGGCTGGCAGGTAATCCTTAAACATCTCCACGATTCTCATGATGCTGAATGACAGATATCCAGAGGCTGTGAACAGCAGCGGAGACGTGAGGCTGCTTATGGCAATCAGGACCTCCACCTGGAAAAAAAGCGCGGGTTGCAGGACCACGGCCGGAGCCTGGGAGCCCAGGACAGCGGGCGTGGCCAGGGCTGGGGGGGCGGGCATGGCCGGGCACTCATGGGCATAGTCCCAAGCTGGTTCCCTGCATGACTCCTGCTGAAACCTCTGCCTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACAAGTCTCGCTGTGTCGCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGTAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACCGTGTTTTGCCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACCGCGCCCGGCCTGCCTTTCTTTCTTTTTTGAGAGGCAGCCTAGCTGTGTAGCCCAGGCAGGAGTGCGGTGGCACAATCTCTGATCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCCGCCTCGGCCTCTTGAGTAGCTGGGATTACAGACATGCGCCACCACACCTGGCTAATTGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGTCAGGCTGGTCTTCAACTCCTGACCTTGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCAGCCTGCCTTTTCATTCACAGCACAGTGCCACAAGTTTTGAAATACTTACCATCTAGGCAAGGTGGCTCACATCTGTAATCCAAGCACTTTGGGAGGCCGAGGAGGGCGGATCACCTGAGGTCACGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACTAAAGATACAAAAACTAAGCGGGTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTACAATGAGCTGAGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAACAAACAAAACCAAGAAACAAAAAACATTTACCTGCAATTCTCCACTCTTGAAAAAATAGCCCTTCCGCATGGGTCACCTCCTTCACTGCTCTGAAGTCTGTCCTTTTAACCCACCCCAAATCTTCCTGTTTGACCCATCAAGTCTCAGAGACAGCCTTCACTCATGCCAAGCATGGGCAGTCACCTTGCAAAGCACTCAGGGTCCACATTTTGGCAGCAGTCATTAACGATCGACCAGTTCAATTGTTTGCGGTCAGTTTGTGGCAGTTTCGGCCGGGCGTGGTGGCTCACACCGGTAATCCCAGCACTTTGGGAGGTTGAGGTGAGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAGACTGCATCTCAAAAAAGAAAAAAAAACAATCGACCAGCCTTAGGAGGTGCAGATGATGCTCAGACACTGGTCTCCTTCCAAGGGTTAGGCACAGAGAGCGCTTCCAGTGTCTACACCACCTTGTTCAGGTCTGCCTGTCCCTGAGAACAGTCCCTGCTGAGCGGGCCAGCCTCCACCTCCCACAACCCCACCTTCCTCATTGTGCAGGCCCTGCAGCCCAGTCACTGCGCTCTCTTGGGCTGGAGCCTGGTCACATGGCACCAAGGGAGGGCTAGGCCAGGCCCTGGCCCCGCTCGGTGGG 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