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_27000 | Given a variant located on Chromosome 19 and affecting SLC7A9 (solute carrier family 7 member 9), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Cystinuria | GCACTCCAGCCTAGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGAAATAATTCACTGTCGGGAAGGGCATCATGGAATACCCAGGGAAATAGCTCCAGCCTTCACCAGGAGAAGAGAAATCAGGCTGCCCGGCTACTGTCCTCTGCACTGATTCAGCTGTTACCTGTAAGGGTTTCTAAGTTCTTCTGTGATGTAATTGAGTTGATTCCTGGAAAAAGGAAAGTAACAAGCGTCACACACCTTGACTTTCTTTTTCGATAATGAAACCCACAATAATAAATGTTGGCCTCATTTAAGATTCTCTACCAGAGAAAAAAATTCTCCTGCAGGAATTCCAGGTGAATTTTTTTCCAGGTGAATGGCCCTGCTAGTGGTGGGGCCTGGGGCCCTACCCAGACCTACACATCTGTCAGCTGGTTGAGCCTTTGCCCTCCTCGGGAATCACACGGATTTTCAAGAATAATCAGGAGTAGTGAGTCCCCAGGGTGCTTTGAAAAAATGGAATATTCTTTGTCTGAAAAGGGAATTAAATCTATAAATGCTTTGCAGGAGAGAAGGACCATCGTTGCAGATGGCCATGCTTCTTCCTTAAAGGACAAAAATGGGCCAGGCATAGTGGCGCACGTCTGTAATCCCAGCACTTTGAGAAGCCGAGGTGGGCAGATCACTTGAAGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTAAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCCTGCATGGTGGCAGGTGCCTGTAATCCCAGCTAGTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGGGATTCAAGCAATTGCAGTGAGCCGAGATCTCACCACAGCACTCCAGCCTGGGTAATAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAAAAAGGACAAAAACAGAATCTCATCCACTAAACTCGATAAATATATAAAATTTATATGGTATTATTTATTTTTGTAGGGCAGTCCCCCAAACCATAATAGATTCAGAGAGGCTCCCAAACCTAATGATTTTCAAGGTTAAATAGAAGTGCTATTGAGTATTCTTTGTTTAATCAAGAGCTTGGGGCTGGGCGCAGTGGCTCACGCCTGTAAACCCAGCACTTTGGGAGGCCGAGGAGAGAGAATTGCTTGAGTGTAGGAGTTTGAGAGCAGCTTGGGCAACACAGAGAGACTGTCTCTACAAAGCATAAAAATAAAAAATTATCAGGGCATGGCAGCTCCTATCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCGGGAAGCTGACTTGAGCCCAGGAGCTCAAGGCTGCAGTGAGCTATGATCACGCCATTGCACTCCAGCCTGGGTGACCAAGTGAGATCCTGTCTTAAAAAAACAAAACAAAACAAAACAGAAAACCTGAGCTTGGGCCCTGGCTGCCTCTGATTTGGCTGAGCCTGTGTTGGCCCAGTGAGGGTTCTACACAGAGCACTCTGGCTGACTGAGCAGGTGTCTCAGGGAATAAAGGGGAGAGGTTGTCGCATCCTTCACAAAAAGGAAATGTGAGGGTGAATGTCAGAGTCACACCAAACCCCAGAAAGGAGAACTCATTGTTTTCCATGACAGGTGGAGTTAAAGTCACCTGGAGAACCCCACCCACCCCCAGACTCGGGACATCTCAGGACACCTCACCATCCATCATAGGCCCAGAGTCCATTGTAAAACGCCAGGCTGATGGCTCCCACAGACAGCTGGGCGCCCTCGAAAGAATTATCAAAATTCTTTGTGTTTCCTGTAATGAAGCCAGACAGTGAACGGCGGGTGTCAACCGGGCAGATCTTGAGTGTATCTCCACGGGAAAGATGGGCATGATTGTGACCCCAGCTTAATAAACACGCCCTGAAACTAAGGATCCCTCCCACCGAGTTCCTGCCATGCTTCCTTGGAGATGGGCTCGTGGGGCAAGGCTGCTCCTGCTCCCAGTGGAAGGGCGTTTGGTGTGTGCCCGTGCAGGGCCCACCCTCCCGTGGGTCACCTTGGGCCAGGAGCACCAGCCCGCTGATGATGATGATGGCCACGATCACCAGCTTGGCCGCGGTGAAGATGTTCTGGACGTAGCTTCCCAGCCGCACGCTCAGTGAGTTCACTGTCGAGATGAACACTGGAAGGGTGGGGACAGTTTCTGCATTTATGGTTTTCAGCAAAGCCCTGGAGAGAGTCTCCTTTCTTTTATATATTTTTTATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGAGCAGTGGCATGATCTCAGCTCACGATCTCAGCAATCTTTGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGACGACAGGTGCACGCCACTATGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGCTTGTCTGGAGGTTCTAGCGGGGGAGCGCAGCTACTCATATACCCTTGACCGAAGACCAGCCCTCCTCTATCGGGGATGGTCATCCTTTTCCACCGAGTGCGCAGCTTCGGGAGGGATGCACGTGGAGCAGTGAGGGAGGAAGAGGACACTGGCCTAGCCAGCCAGATCACCTGAATCAACCCTGGCGATCAGTGGGGTGACAGATGTCCCTGCCAGATCGCCCTCATATCCAATTTTTGTAATTTTATTTTTATCTATTTATTTATTTGAGATGGAGTCTCACTCTGTCGTCCAGGCTGGAGTGCAATGGCACAGTCTCAGCTAAATGCAACCTCCACCTCCCGGGTTCAAGGAATTCTCCTGCCTCAGTCTCCCCAGTAGCTGGGATTACAGGCATGCACTACCCCACCACCCCCCTCCCCCGCCCTGCTAATTTTTGTATTTTAGTAGAAACAGGGTTTTGCCACGTTGGCCAGGCTGGTCTCGAACTCGTGACCTCATGTAATCCCTCCACCTTGGTCTCCCAAAGTGCTAGGATTACAGGTGTGGGCCACTGCACCTAGCCTCTTTTATTTTTTGAGATAGGGTCCAAGGCTCAAGTGATCCCCCCTCCTCAGCCTCCCACGTAGCTGGGACGCCAGGTGCATGCCACCATACCCGGCTAATGTTTTGATTGTTTGTAGAGTCAAGGTTCTCACTGTGTTGACCAGGCTGATCTCAAACTCTTGGCCTCAAGCGATCCTCCCACCTCAGCCTCCCAAAGTGGTGAGATTCCAAGCATGAGCCACTGCCTGCGGCCCACCCCTACTCCCCCACCAGCCACCATATCATCTCCCAAATTCCAAGAGGGCAGATCCAAACATGGGAGTTTAAGGACCTTTTAAAAGAACCTGGAGATGACCTTAGCCGGGCTGCCTCAGATGGCGAAAAATTATCAGGGCGTGGTAAGCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCAGGAGAAGCTGGGCCCTGAGCCAAGGCTCTGCCCTGCAGGACAGCCAGCGGCACCCCTCCCTGCAGCCCCCACGGGCCTGGGGGTCCCCAGTGTGCAGCACCCACAGGTACTGCAAAGGCTGATGCCAGGCCCTGCCTGGGCTCTCACCAGAGACTCACTGGGGAGGAGCTGAGGGCGGAGTCCCCAGACACCCTCTGTGCCAGGTCTTTTCTGACCCCTGCCCTGGGCTCAGGTACTCACAGATGGCGGCGGCGGCCAGGCATTTCACAACGATTTGAGGAGGCTTGCAGCCCACATAGAAGGGCGCACACACATACTCGGAGAAGCTGAGGCAGATGATGGCGAAGGACGTGGGCTTAATGACGATCAGGCTGGCCCAGGAGAAGAGGTAGGCGGGGATGGGCCCGTAGGCCTCCATCAGGTAGGGATACTCTCCCCCTGACTTGGTGATCATTGTGCCAAGCTCCGCAAAGCACAGGGCACCTGGAACACAGAGAGGAAGGGCCCACAGGCCCCTTGTGAGGCACTGCCCCGGCCCCAGGGAGCCTTCCTCCCACCGGAGGCTGCGCTCGTATGGAGGGGCCCACCGTGGTCCGCCCTCGCTGGACGGCCCTGAGCTCCAGCGTTGGACATTCAGTCCAGCCTGATTTACACCTGTTTGCCATACATGTGCC 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GCACTCCAGCCTAGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGAAATAATTCACTGTCGGGAAGGGCATCATGGAATACCCAGGGAAATAGCTCCAGCCTTCACCAGGAGAAGAGAAATCAGGCTGCCCGGCTACTGTCCTCTGCACTGATTCAGCTGTTACCTGTAAGGGTTTCTAAGTTCTTCTGTGATGTAATTGAGTTGATTCCTGGAAAAAGGAAAGTAACAAGCGTCACACACCTTGACTTTCTTTTTCGATAATGAAACCCACAATAATAAATGTTGGCCTCATTTAAGATTCTCTACCAGAGAAAAAAATTCTCCTGCAGGAATTCCAGGTGAATTTTTTTCCAGGTGAATGGCCCTGCTAGTGGTGGGGCCTGGGGCCCTACCCAGACCTACACATCTGTCAGCTGGTTGAGCCTTTGCCCTCCTCGGGAATCACACGGATTTTCAAGAATAATCAGGAGTAGTGAGTCCCCAGGGTGCTTTGAAAAAATGGAATATTCTTTGTCTGAAAAGGGAATTAAATCTATAAATGCTTTGCAGGAGAGAAGGACCATCGTTGCAGATGGCCATGCTTCTTCCTTAAAGGACAAAAATGGGCCAGGCATAGTGGCGCACGTCTGTAATCCCAGCACTTTGAGAAGCCGAGGTGGGCAGATCACTTGAAGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTAAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCCTGCATGGTGGCAGGTGCCTGTAATCCCAGCTAGTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGGGATTCAAGCAATTGCAGTGAGCCGAGATCTCACCACAGCACTCCAGCCTGGGTAATAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAAAAAGGACAAAAACAGAATCTCATCCACTAAACTCGATAAATATATAAAATTTATATGGTATTATTTATTTTTGTAGGGCAGTCCCCCAAACCATAATAGATTCAGAGAGGCTCCCAAACCTAATGATTTTCAAGGTTAAATAGAAGTGCTATTGAGTATTCTTTGTTTAATCAAGAGCTTGGGGCTGGGCGCAGTGGCTCACGCCTGTAAACCCAGCACTTTGGGAGGCCGAGGAGAGAGAATTGCTTGAGTGTAGGAGTTTGAGAGCAGCTTGGGCAACACAGAGAGACTGTCTCTACAAAGCATAAAAATAAAAAATTATCAGGGCATGGCAGCTCCTATCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCGGGAAGCTGACTTGAGCCCAGGAGCTCAAGGCTGCAGTGAGCTATGATCACGCCATTGCACTCCAGCCTGGGTGACCAAGTGAGATCCTGTCTTAAAAAAACAAAACAAAACAAAACAGAAAACCTGAGCTTGGGCCCTGGCTGCCTCTGATTTGGCTGAGCCTGTGTTGGCCCAGTGAGGGTTCTACACAGAGCACTCTGGCTGACTGAGCAGGTGTCTCAGGGAATAAAGGGGAGAGGTTGTCGCATCCTTCACAAAAAGGAAATGTGAGGGTGAATGTCAGAGTCACACCAAACCCCAGAAAGGAGAACTCATTGTTTTCCATGACAGGTGGAGTTAAAGTCACCTGGAGAACCCCACCCACCCCCAGACTCGGGACATCTCAGGACACCTCACCATCCATCATAGGCCCAGAGTCCATTGTAAAACGCCAGGCTGATGGCTCCCACAGACAGCTGGGCGCCCTCGAAAGAATTATCAAAATTCTTTGTGTTTCCTGTAATGAAGCCAGACAGTGAACGGCGGGTGTCAACCGGGCAGATCTTGAGTGTATCTCCACGGGAAAGATGGGCATGATTGTGACCCCAGCTTAATAAACACGCCCTGAAACTAAGGATCCCTCCCACCGAGTTCCTGCCATGCTTCCTTGGAGATGGGCTCGTGGGGCAAGGCTGCTCCTGCTCCCAGTGGAAGGGCGTTTGGTGTGTGCCCGTGCAGGGCCCACCCTCCCGTGGGTCACCTTGGGCCAGGAGCACCAGCCTGCTGATGATGATGATGGCCACGATCACCAGCTTGGCCGCGGTGAAGATGTTCTGGACGTAGCTTCCCAGCCGCACGCTCAGTGAGTTCACTGTCGAGATGAACACTGGAAGGGTGGGGACAGTTTCTGCATTTATGGTTTTCAGCAAAGCCCTGGAGAGAGTCTCCTTTCTTTTATATATTTTTTATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGAGCAGTGGCATGATCTCAGCTCACGATCTCAGCAATCTTTGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGACGACAGGTGCACGCCACTATGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGCTTGTCTGGAGGTTCTAGCGGGGGAGCGCAGCTACTCATATACCCTTGACCGAAGACCAGCCCTCCTCTATCGGGGATGGTCATCCTTTTCCACCGAGTGCGCAGCTTCGGGAGGGATGCACGTGGAGCAGTGAGGGAGGAAGAGGACACTGGCCTAGCCAGCCAGATCACCTGAATCAACCCTGGCGATCAGTGGGGTGACAGATGTCCCTGCCAGATCGCCCTCATATCCAATTTTTGTAATTTTATTTTTATCTATTTATTTATTTGAGATGGAGTCTCACTCTGTCGTCCAGGCTGGAGTGCAATGGCACAGTCTCAGCTAAATGCAACCTCCACCTCCCGGGTTCAAGGAATTCTCCTGCCTCAGTCTCCCCAGTAGCTGGGATTACAGGCATGCACTACCCCACCACCCCCCTCCCCCGCCCTGCTAATTTTTGTATTTTAGTAGAAACAGGGTTTTGCCACGTTGGCCAGGCTGGTCTCGAACTCGTGACCTCATGTAATCCCTCCACCTTGGTCTCCCAAAGTGCTAGGATTACAGGTGTGGGCCACTGCACCTAGCCTCTTTTATTTTTTGAGATAGGGTCCAAGGCTCAAGTGATCCCCCCTCCTCAGCCTCCCACGTAGCTGGGACGCCAGGTGCATGCCACCATACCCGGCTAATGTTTTGATTGTTTGTAGAGTCAAGGTTCTCACTGTGTTGACCAGGCTGATCTCAAACTCTTGGCCTCAAGCGATCCTCCCACCTCAGCCTCCCAAAGTGGTGAGATTCCAAGCATGAGCCACTGCCTGCGGCCCACCCCTACTCCCCCACCAGCCACCATATCATCTCCCAAATTCCAAGAGGGCAGATCCAAACATGGGAGTTTAAGGACCTTTTAAAAGAACCTGGAGATGACCTTAGCCGGGCTGCCTCAGATGGCGAAAAATTATCAGGGCGTGGTAAGCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCAGGAGAAGCTGGGCCCTGAGCCAAGGCTCTGCCCTGCAGGACAGCCAGCGGCACCCCTCCCTGCAGCCCCCACGGGCCTGGGGGTCCCCAGTGTGCAGCACCCACAGGTACTGCAAAGGCTGATGCCAGGCCCTGCCTGGGCTCTCACCAGAGACTCACTGGGGAGGAGCTGAGGGCGGAGTCCCCAGACACCCTCTGTGCCAGGTCTTTTCTGACCCCTGCCCTGGGCTCAGGTACTCACAGATGGCGGCGGCGGCCAGGCATTTCACAACGATTTGAGGAGGCTTGCAGCCCACATAGAAGGGCGCACACACATACTCGGAGAAGCTGAGGCAGATGATGGCGAAGGACGTGGGCTTAATGACGATCAGGCTGGCCCAGGAGAAGAGGTAGGCGGGGATGGGCCCGTAGGCCTCCATCAGGTAGGGATACTCTCCCCCTGACTTGGTGATCATTGTGCCAAGCTCCGCAAAGCACAGGGCACCTGGAACACAGAGAGGAAGGGCCCACAGGCCCCTTGTGAGGCACTGCCCCGGCCCCAGGGAGCCTTCCTCCCACCGGAGGCTGCGCTCGTATGGAGGGGCCCACCGTGGTCCGCCCTCGCTGGACGGCCCTGAGCTCCAGCGTTGGACATTCAGTCCAGCCTGATTTACACCTGTTTGCCATACATGTGCC 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Task1_train_27001 | A mutation found in SLC7A9 (solute carrier family 7 member 9) on Chromosome 19 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Cystinuria | GCATCATGGAATACCCAGGGAAATAGCTCCAGCCTTCACCAGGAGAAGAGAAATCAGGCTGCCCGGCTACTGTCCTCTGCACTGATTCAGCTGTTACCTGTAAGGGTTTCTAAGTTCTTCTGTGATGTAATTGAGTTGATTCCTGGAAAAAGGAAAGTAACAAGCGTCACACACCTTGACTTTCTTTTTCGATAATGAAACCCACAATAATAAATGTTGGCCTCATTTAAGATTCTCTACCAGAGAAAAAAATTCTCCTGCAGGAATTCCAGGTGAATTTTTTTCCAGGTGAATGGCCCTGCTAGTGGTGGGGCCTGGGGCCCTACCCAGACCTACACATCTGTCAGCTGGTTGAGCCTTTGCCCTCCTCGGGAATCACACGGATTTTCAAGAATAATCAGGAGTAGTGAGTCCCCAGGGTGCTTTGAAAAAATGGAATATTCTTTGTCTGAAAAGGGAATTAAATCTATAAATGCTTTGCAGGAGAGAAGGACCATCGTTGCAGATGGCCATGCTTCTTCCTTAAAGGACAAAAATGGGCCAGGCATAGTGGCGCACGTCTGTAATCCCAGCACTTTGAGAAGCCGAGGTGGGCAGATCACTTGAAGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTAAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCCTGCATGGTGGCAGGTGCCTGTAATCCCAGCTAGTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGGGATTCAAGCAATTGCAGTGAGCCGAGATCTCACCACAGCACTCCAGCCTGGGTAATAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAAAAAGGACAAAAACAGAATCTCATCCACTAAACTCGATAAATATATAAAATTTATATGGTATTATTTATTTTTGTAGGGCAGTCCCCCAAACCATAATAGATTCAGAGAGGCTCCCAAACCTAATGATTTTCAAGGTTAAATAGAAGTGCTATTGAGTATTCTTTGTTTAATCAAGAGCTTGGGGCTGGGCGCAGTGGCTCACGCCTGTAAACCCAGCACTTTGGGAGGCCGAGGAGAGAGAATTGCTTGAGTGTAGGAGTTTGAGAGCAGCTTGGGCAACACAGAGAGACTGTCTCTACAAAGCATAAAAATAAAAAATTATCAGGGCATGGCAGCTCCTATCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCGGGAAGCTGACTTGAGCCCAGGAGCTCAAGGCTGCAGTGAGCTATGATCACGCCATTGCACTCCAGCCTGGGTGACCAAGTGAGATCCTGTCTTAAAAAAACAAAACAAAACAAAACAGAAAACCTGAGCTTGGGCCCTGGCTGCCTCTGATTTGGCTGAGCCTGTGTTGGCCCAGTGAGGGTTCTACACAGAGCACTCTGGCTGACTGAGCAGGTGTCTCAGGGAATAAAGGGGAGAGGTTGTCGCATCCTTCACAAAAAGGAAATGTGAGGGTGAATGTCAGAGTCACACCAAACCCCAGAAAGGAGAACTCATTGTTTTCCATGACAGGTGGAGTTAAAGTCACCTGGAGAACCCCACCCACCCCCAGACTCGGGACATCTCAGGACACCTCACCATCCATCATAGGCCCAGAGTCCATTGTAAAACGCCAGGCTGATGGCTCCCACAGACAGCTGGGCGCCCTCGAAAGAATTATCAAAATTCTTTGTGTTTCCTGTAATGAAGCCAGACAGTGAACGGCGGGTGTCAACCGGGCAGATCTTGAGTGTATCTCCACGGGAAAGATGGGCATGATTGTGACCCCAGCTTAATAAACACGCCCTGAAACTAAGGATCCCTCCCACCGAGTTCCTGCCATGCTTCCTTGGAGATGGGCTCGTGGGGCAAGGCTGCTCCTGCTCCCAGTGGAAGGGCGTTTGGTGTGTGCCCGTGCAGGGCCCACCCTCCCGTGGGTCACCTTGGGCCAGGAGCACCAGCCCGCTGATGATGATGATGGCCACGATCACCAGCTTGGCCGCGGTGAAGATGTTCTGGACGTAGCTTCCCAGCCGCACGCTCAGTGAGTTCACTGTCGAGATGAACACTGGAAGGGTGGGGACAGTTTCTGCATTTATGGTTTTCAGCAAAGCCCTGGAGAGAGTCTCCTTTCTTTTATATATTTTTTATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGAGCAGTGGCATGATCTCAGCTCACGATCTCAGCAATCTTTGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGACGACAGGTGCACGCCACTATGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGCTTGTCTGGAGGTTCTAGCGGGGGAGCGCAGCTACTCATATACCCTTGACCGAAGACCAGCCCTCCTCTATCGGGGATGGTCATCCTTTTCCACCGAGTGCGCAGCTTCGGGAGGGATGCACGTGGAGCAGTGAGGGAGGAAGAGGACACTGGCCTAGCCAGCCAGATCACCTGAATCAACCCTGGCGATCAGTGGGGTGACAGATGTCCCTGCCAGATCGCCCTCATATCCAATTTTTGTAATTTTATTTTTATCTATTTATTTATTTGAGATGGAGTCTCACTCTGTCGTCCAGGCTGGAGTGCAATGGCACAGTCTCAGCTAAATGCAACCTCCACCTCCCGGGTTCAAGGAATTCTCCTGCCTCAGTCTCCCCAGTAGCTGGGATTACAGGCATGCACTACCCCACCACCCCCCTCCCCCGCCCTGCTAATTTTTGTATTTTAGTAGAAACAGGGTTTTGCCACGTTGGCCAGGCTGGTCTCGAACTCGTGACCTCATGTAATCCCTCCACCTTGGTCTCCCAAAGTGCTAGGATTACAGGTGTGGGCCACTGCACCTAGCCTCTTTTATTTTTTGAGATAGGGTCCAAGGCTCAAGTGATCCCCCCTCCTCAGCCTCCCACGTAGCTGGGACGCCAGGTGCATGCCACCATACCCGGCTAATGTTTTGATTGTTTGTAGAGTCAAGGTTCTCACTGTGTTGACCAGGCTGATCTCAAACTCTTGGCCTCAAGCGATCCTCCCACCTCAGCCTCCCAAAGTGGTGAGATTCCAAGCATGAGCCACTGCCTGCGGCCCACCCCTACTCCCCCACCAGCCACCATATCATCTCCCAAATTCCAAGAGGGCAGATCCAAACATGGGAGTTTAAGGACCTTTTAAAAGAACCTGGAGATGACCTTAGCCGGGCTGCCTCAGATGGCGAAAAATTATCAGGGCGTGGTAAGCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCAGGAGAAGCTGGGCCCTGAGCCAAGGCTCTGCCCTGCAGGACAGCCAGCGGCACCCCTCCCTGCAGCCCCCACGGGCCTGGGGGTCCCCAGTGTGCAGCACCCACAGGTACTGCAAAGGCTGATGCCAGGCCCTGCCTGGGCTCTCACCAGAGACTCACTGGGGAGGAGCTGAGGGCGGAGTCCCCAGACACCCTCTGTGCCAGGTCTTTTCTGACCCCTGCCCTGGGCTCAGGTACTCACAGATGGCGGCGGCGGCCAGGCATTTCACAACGATTTGAGGAGGCTTGCAGCCCACATAGAAGGGCGCACACACATACTCGGAGAAGCTGAGGCAGATGATGGCGAAGGACGTGGGCTTAATGACGATCAGGCTGGCCCAGGAGAAGAGGTAGGCGGGGATGGGCCCGTAGGCCTCCATCAGGTAGGGATACTCTCCCCCTGACTTGGTGATCATTGTGCCAAGCTCCGCAAAGCACAGGGCACCTGGAACACAGAGAGGAAGGGCCCACAGGCCCCTTGTGAGGCACTGCCCCGGCCCCAGGGAGCCTTCCTCCCACCGGAGGCTGCGCTCGTATGGAGGGGCCCACCGTGGTCCGCCCTCGCTGGACGGCCCTGAGCTCCAGCGTTGGACATTCAGTCCAGCCTGATTTACACCTGTTTGCCATACATGTGCCAAGAGGGATACTGGCAGGGTGAGGGCTGGCACAGGTAGCAGCTGCCTGGCGTGCCCCTGCATGCTTCCGGGGCTG 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GCATCATGGAATACCCAGGGAAATAGCTCCAGCCTTCACCAGGAGAAGAGAAATCAGGCTGCCCGGCTACTGTCCTCTGCACTGATTCAGCTGTTACCTGTAAGGGTTTCTAAGTTCTTCTGTGATGTAATTGAGTTGATTCCTGGAAAAAGGAAAGTAACAAGCGTCACACACCTTGACTTTCTTTTTCGATAATGAAACCCACAATAATAAATGTTGGCCTCATTTAAGATTCTCTACCAGAGAAAAAAATTCTCCTGCAGGAATTCCAGGTGAATTTTTTTCCAGGTGAATGGCCCTGCTAGTGGTGGGGCCTGGGGCCCTACCCAGACCTACACATCTGTCAGCTGGTTGAGCCTTTGCCCTCCTCGGGAATCACACGGATTTTCAAGAATAATCAGGAGTAGTGAGTCCCCAGGGTGCTTTGAAAAAATGGAATATTCTTTGTCTGAAAAGGGAATTAAATCTATAAATGCTTTGCAGGAGAGAAGGACCATCGTTGCAGATGGCCATGCTTCTTCCTTAAAGGACAAAAATGGGCCAGGCATAGTGGCGCACGTCTGTAATCCCAGCACTTTGAGAAGCCGAGGTGGGCAGATCACTTGAAGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTAAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCCTGCATGGTGGCAGGTGCCTGTAATCCCAGCTAGTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGGGATTCAAGCAATTGCAGTGAGCCGAGATCTCACCACAGCACTCCAGCCTGGGTAATAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAAAAAGGACAAAAACAGAATCTCATCCACTAAACTCGATAAATATATAAAATTTATATGGTATTATTTATTTTTGTAGGGCAGTCCCCCAAACCATAATAGATTCAGAGAGGCTCCCAAACCTAATGATTTTCAAGGTTAAATAGAAGTGCTATTGAGTATTCTTTGTTTAATCAAGAGCTTGGGGCTGGGCGCAGTGGCTCACGCCTGTAAACCCAGCACTTTGGGAGGCCGAGGAGAGAGAATTGCTTGAGTGTAGGAGTTTGAGAGCAGCTTGGGCAACACAGAGAGACTGTCTCTACAAAGCATAAAAATAAAAAATTATCAGGGCATGGCAGCTCCTATCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCGGGAAGCTGACTTGAGCCCAGGAGCTCAAGGCTGCAGTGAGCTATGATCACGCCATTGCACTCCAGCCTGGGTGACCAAGTGAGATCCTGTCTTAAAAAAACAAAACAAAACAAAACAGAAAACCTGAGCTTGGGCCCTGGCTGCCTCTGATTTGGCTGAGCCTGTGTTGGCCCAGTGAGGGTTCTACACAGAGCACTCTGGCTGACTGAGCAGGTGTCTCAGGGAATAAAGGGGAGAGGTTGTCGCATCCTTCACAAAAAGGAAATGTGAGGGTGAATGTCAGAGTCACACCAAACCCCAGAAAGGAGAACTCATTGTTTTCCATGACAGGTGGAGTTAAAGTCACCTGGAGAACCCCACCCACCCCCAGACTCGGGACATCTCAGGACACCTCACCATCCATCATAGGCCCAGAGTCCATTGTAAAACGCCAGGCTGATGGCTCCCACAGACAGCTGGGCGCCCTCGAAAGAATTATCAAAATTCTTTGTGTTTCCTGTAATGAAGCCAGACAGTGAACGGCGGGTGTCAACCGGGCAGATCTTGAGTGTATCTCCACGGGAAAGATGGGCATGATTGTGACCCCAGCTTAATAAACACGCCCTGAAACTAAGGATCCCTCCCACCGAGTTCCTGCCATGCTTCCTTGGAGATGGGCTCGTGGGGCAAGGCTGCTCCTGCTCCCAGTGGAAGGGCGTTTGGTGTGTGCCCGTGCAGGGCCCACCCTCCCGTGGGTCACCTTGGGCCAGGAGCACCAGCCCGCTGATGATGATGATGGCCACGATCACCAGCTTGGCCGCGGTGAAGATGTTCTGGACGTAGCTTCCCAGCCGCATGCTCAGTGAGTTCACTGTCGAGATGAACACTGGAAGGGTGGGGACAGTTTCTGCATTTATGGTTTTCAGCAAAGCCCTGGAGAGAGTCTCCTTTCTTTTATATATTTTTTATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGAGCAGTGGCATGATCTCAGCTCACGATCTCAGCAATCTTTGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGACGACAGGTGCACGCCACTATGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGCTTGTCTGGAGGTTCTAGCGGGGGAGCGCAGCTACTCATATACCCTTGACCGAAGACCAGCCCTCCTCTATCGGGGATGGTCATCCTTTTCCACCGAGTGCGCAGCTTCGGGAGGGATGCACGTGGAGCAGTGAGGGAGGAAGAGGACACTGGCCTAGCCAGCCAGATCACCTGAATCAACCCTGGCGATCAGTGGGGTGACAGATGTCCCTGCCAGATCGCCCTCATATCCAATTTTTGTAATTTTATTTTTATCTATTTATTTATTTGAGATGGAGTCTCACTCTGTCGTCCAGGCTGGAGTGCAATGGCACAGTCTCAGCTAAATGCAACCTCCACCTCCCGGGTTCAAGGAATTCTCCTGCCTCAGTCTCCCCAGTAGCTGGGATTACAGGCATGCACTACCCCACCACCCCCCTCCCCCGCCCTGCTAATTTTTGTATTTTAGTAGAAACAGGGTTTTGCCACGTTGGCCAGGCTGGTCTCGAACTCGTGACCTCATGTAATCCCTCCACCTTGGTCTCCCAAAGTGCTAGGATTACAGGTGTGGGCCACTGCACCTAGCCTCTTTTATTTTTTGAGATAGGGTCCAAGGCTCAAGTGATCCCCCCTCCTCAGCCTCCCACGTAGCTGGGACGCCAGGTGCATGCCACCATACCCGGCTAATGTTTTGATTGTTTGTAGAGTCAAGGTTCTCACTGTGTTGACCAGGCTGATCTCAAACTCTTGGCCTCAAGCGATCCTCCCACCTCAGCCTCCCAAAGTGGTGAGATTCCAAGCATGAGCCACTGCCTGCGGCCCACCCCTACTCCCCCACCAGCCACCATATCATCTCCCAAATTCCAAGAGGGCAGATCCAAACATGGGAGTTTAAGGACCTTTTAAAAGAACCTGGAGATGACCTTAGCCGGGCTGCCTCAGATGGCGAAAAATTATCAGGGCGTGGTAAGCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCAGGAGAAGCTGGGCCCTGAGCCAAGGCTCTGCCCTGCAGGACAGCCAGCGGCACCCCTCCCTGCAGCCCCCACGGGCCTGGGGGTCCCCAGTGTGCAGCACCCACAGGTACTGCAAAGGCTGATGCCAGGCCCTGCCTGGGCTCTCACCAGAGACTCACTGGGGAGGAGCTGAGGGCGGAGTCCCCAGACACCCTCTGTGCCAGGTCTTTTCTGACCCCTGCCCTGGGCTCAGGTACTCACAGATGGCGGCGGCGGCCAGGCATTTCACAACGATTTGAGGAGGCTTGCAGCCCACATAGAAGGGCGCACACACATACTCGGAGAAGCTGAGGCAGATGATGGCGAAGGACGTGGGCTTAATGACGATCAGGCTGGCCCAGGAGAAGAGGTAGGCGGGGATGGGCCCGTAGGCCTCCATCAGGTAGGGATACTCTCCCCCTGACTTGGTGATCATTGTGCCAAGCTCCGCAAAGCACAGGGCACCTGGAACACAGAGAGGAAGGGCCCACAGGCCCCTTGTGAGGCACTGCCCCGGCCCCAGGGAGCCTTCCTCCCACCGGAGGCTGCGCTCGTATGGAGGGGCCCACCGTGGTCCGCCCTCGCTGGACGGCCCTGAGCTCCAGCGTTGGACATTCAGTCCAGCCTGATTTACACCTGTTTGCCATACATGTGCCAAGAGGGATACTGGCAGGGTGAGGGCTGGCACAGGTAGCAGCTGCCTGGCGTGCCCCTGCATGCTTCCGGGGCTG 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Task1_train_27002 | A variant was discovered in gene SLC7A9 (solute carrier family 7 member 9), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Cystinuria | CGCCAGGCTGATGGCTCCCACAGACAGCTGGGCGCCCTCGAAAGAATTATCAAAATTCTTTGTGTTTCCTGTAATGAAGCCAGACAGTGAACGGCGGGTGTCAACCGGGCAGATCTTGAGTGTATCTCCACGGGAAAGATGGGCATGATTGTGACCCCAGCTTAATAAACACGCCCTGAAACTAAGGATCCCTCCCACCGAGTTCCTGCCATGCTTCCTTGGAGATGGGCTCGTGGGGCAAGGCTGCTCCTGCTCCCAGTGGAAGGGCGTTTGGTGTGTGCCCGTGCAGGGCCCACCCTCCCGTGGGTCACCTTGGGCCAGGAGCACCAGCCCGCTGATGATGATGATGGCCACGATCACCAGCTTGGCCGCGGTGAAGATGTTCTGGACGTAGCTTCCCAGCCGCACGCTCAGTGAGTTCACTGTCGAGATGAACACTGGAAGGGTGGGGACAGTTTCTGCATTTATGGTTTTCAGCAAAGCCCTGGAGAGAGTCTCCTTTCTTTTATATATTTTTTATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGAGCAGTGGCATGATCTCAGCTCACGATCTCAGCAATCTTTGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGACGACAGGTGCACGCCACTATGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGCTTGTCTGGAGGTTCTAGCGGGGGAGCGCAGCTACTCATATACCCTTGACCGAAGACCAGCCCTCCTCTATCGGGGATGGTCATCCTTTTCCACCGAGTGCGCAGCTTCGGGAGGGATGCACGTGGAGCAGTGAGGGAGGAAGAGGACACTGGCCTAGCCAGCCAGATCACCTGAATCAACCCTGGCGATCAGTGGGGTGACAGATGTCCCTGCCAGATCGCCCTCATATCCAATTTTTGTAATTTTATTTTTATCTATTTATTTATTTGAGATGGAGTCTCACTCTGTCGTCCAGGCTGGAGTGCAATGGCACAGTCTCAGCTAAATGCAACCTCCACCTCCCGGGTTCAAGGAATTCTCCTGCCTCAGTCTCCCCAGTAGCTGGGATTACAGGCATGCACTACCCCACCACCCCCCTCCCCCGCCCTGCTAATTTTTGTATTTTAGTAGAAACAGGGTTTTGCCACGTTGGCCAGGCTGGTCTCGAACTCGTGACCTCATGTAATCCCTCCACCTTGGTCTCCCAAAGTGCTAGGATTACAGGTGTGGGCCACTGCACCTAGCCTCTTTTATTTTTTGAGATAGGGTCCAAGGCTCAAGTGATCCCCCCTCCTCAGCCTCCCACGTAGCTGGGACGCCAGGTGCATGCCACCATACCCGGCTAATGTTTTGATTGTTTGTAGAGTCAAGGTTCTCACTGTGTTGACCAGGCTGATCTCAAACTCTTGGCCTCAAGCGATCCTCCCACCTCAGCCTCCCAAAGTGGTGAGATTCCAAGCATGAGCCACTGCCTGCGGCCCACCCCTACTCCCCCACCAGCCACCATATCATCTCCCAAATTCCAAGAGGGCAGATCCAAACATGGGAGTTTAAGGACCTTTTAAAAGAACCTGGAGATGACCTTAGCCGGGCTGCCTCAGATGGCGAAAAATTATCAGGGCGTGGTAAGCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCAGGAGAAGCTGGGCCCTGAGCCAAGGCTCTGCCCTGCAGGACAGCCAGCGGCACCCCTCCCTGCAGCCCCCACGGGCCTGGGGGTCCCCAGTGTGCAGCACCCACAGGTACTGCAAAGGCTGATGCCAGGCCCTGCCTGGGCTCTCACCAGAGACTCACTGGGGAGGAGCTGAGGGCGGAGTCCCCAGACACCCTCTGTGCCAGGTCTTTTCTGACCCCTGCCCTGGGCTCAGGTACTCACAGATGGCGGCGGCGGCCAGGCATTTCACAACGATTTGAGGAGGCTTGCAGCCCACATAGAAGGGCGCACACACATACTCGGAGAAGCTGAGGCAGATGATGGCGAAGGACGTGGGCTTAATGACGATCAGGCTGGCCCAGGAGAAGAGGTAGGCGGGGATGGGCCCGTAGGCCTCCATCAGGTAGGGATACTCTCCCCCTGACTTGGTGATCATTGTGCCAAGCTCCGCAAAGCACAGGGCACCTGGAACACAGAGAGGAAGGGCCCACAGGCCCCTTGTGAGGCACTGCCCCGGCCCCAGGGAGCCTTCCTCCCACCGGAGGCTGCGCTCGTATGGAGGGGCCCACCGTGGTCCGCCCTCGCTGGACGGCCCTGAGCTCCAGCGTTGGACATTCAGTCCAGCCTGATTTACACCTGTTTGCCATACATGTGCCAAGAGGGATACTGGCAGGGTGAGGGCTGGCACAGGTAGCAGCTGCCTGGCGTGCCCCTGCATGCTTCCGGGGCTGCAACAGGCTCCCAAGTCTCTTTACCCAGCGTCGCGAGGACCCCGCAAGCCGCCCATATGATGAGGCAGGGCCCCACAGCTTCCGTGTTGCTGAGCACAGACTTGGGGGAAACGAAGATCCCAGAGCCAATGATGGTGCCCACGATGATGGAGATGCCACTGATGAGGCCCAGCTGGGTGTGGAGGAAGGAAGAGGGCGTTAGTGCCACGCCCGGACCCAGCCCAGAAGGCCAGGTGCCACCCTCCCTCGGTACGGCCAGGGCGGCCCCAGCCAAAGCCCATGTCCCAGGCGCTTCCACCCTGAGCGGCTGCCCTGGCAACACCGGGGCACCGCTCCCGGAGCTTTGCTTATGTTAACGTGATTAATTATCGTGACAGCCCCGCGAGCTGGCCACACTGTGTCACCCCCATGGACAGAGGAGGACGCTGAGGCACAGAAAGATTAGGAGGCTGTCCGGGGTTTACAGCTAGAGAGGGGGAAACCTGGCTCAGGTTCCACGTGCCTAACCGTGATCCTGTGCCCTCAATGAAAAGGCTGACTTGGCAACAGCTCACCAATAAGAAAGGCCCTCGGGATACGCCTCTGAGCCTAGAGTCCTGGCCAGAGGCTCCATGCAGGGTGAGCAACGGAGGCCTCCCAGAAACAGAAACATTTGGGCACTCTGAACTTTCTGTGGTGCCATTTTCTTTTATCTTATTTTTATTTACTTATTTATTTAGAGTCAGATCTCTCTCTGTCACCCAGGCTGGAGCACAGAGGTGAGATCATGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAACAATCCTCCCAACTCAGCCTCCCAAAGTGCTGGGATTGCAGGCGTAAGCCGCCGTGCCTGGCCCAGTGCCATTTGCTAGGATGGGAGCTTTCTGAGAACAGAACCCAGCTCAAAGAGACACCAGATGGTTCCATGCCTGTGAAGTTCAAGAACAGGTGAAACTAATCCACAGCCACAGGAATTCAGGGCTGGGGCCCTGCCTAGAAAGGGGCACGAGGGAGCTTTCTGGGGTGGTACATCTGTCAAAACTCACCAAACTCAGCACTAAAGAGCTGTACATTTCGACCAGGTGCAGTGGTTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTTGGGAGTGGGAGACCAGCCTGGCCAGCATGGAGAAACCCCGTTTCTACTAAAAAATACAAAAATCAGCCAGGCATTTTGGTGCACACCTGTTCCTAGCTACTTAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCATGAGGCAGAGGTTGCAGTGAGCCACTACAATCACTCCAGCCTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAACCTGCACATTACACTGTATGTAAATTACACACCAATCAAGGAGGAAAAAAAAGTCCAACTCAAGCCCTACTCATAACACTCGTCCTCAGAAGCAGCCCCGGCCAGATCTCCAGAGCCTGAAGTTTCCAGCACCCATGTTCACCTGTCTGGGAAGAAGCTGGGCTTGGAGTCAGATCGCAGGGGATGAGGGGCTCCCAGCTGCAGGCTGCCACCCTGAGGACTCTGCACACACCAGTGGGATCCCTGGGGAGCAGCGTCTGCTTTCAGGGC 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CGCCAGGCTGATGGCTCCCACAGACAGCTGGGCGCCCTCGAAAGAATTATCAAAATTCTTTGTGTTTCCTGTAATGAAGCCAGACAGTGAACGGCGGGTGTCAACCGGGCAGATCTTGAGTGTATCTCCACGGGAAAGATGGGCATGATTGTGACCCCAGCTTAATAAACACGCCCTGAAACTAAGGATCCCTCCCACCGAGTTCCTGCCATGCTTCCTTGGAGATGGGCTCGTGGGGCAAGGCTGCTCCTGCTCCCAGTGGAAGGGCGTTTGGTGTGTGCCCGTGCAGGGCCCACCCTCCCGTGGGTCACCTTGGGCCAGGAGCACCAGCCCGCTGATGATGATGATGGCCACGATCACCAGCTTGGCCGCGGTGAAGATGTTCTGGACGTAGCTTCCCAGCCGCACGCTCAGTGAGTTCACTGTCGAGATGAACACTGGAAGGGTGGGGACAGTTTCTGCATTTATGGTTTTCAGCAAAGCCCTGGAGAGAGTCTCCTTTCTTTTATATATTTTTTATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGAGCAGTGGCATGATCTCAGCTCACGATCTCAGCAATCTTTGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGACGACAGGTGCACGCCACTATGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGCTTGTCTGGAGGTTCTAGCGGGGGAGCGCAGCTACTCATATACCCTTGACCGAAGACCAGCCCTCCTCTATCGGGGATGGTCATCCTTTTCCACCGAGTGCGCAGCTTCGGGAGGGATGCACGTGGAGCAGTGAGGGAGGAAGAGGACACTGGCCTAGCCAGCCAGATCACCTGAATCAACCCTGGCGATCAGTGGGGTGACAGATGTCCCTGCCAGATCGCCCTCATATCCAATTTTTGTAATTTTATTTTTATCTATTTATTTATTTGAGATGGAGTCTCACTCTGTCGTCCAGGCTGGAGTGCAATGGCACAGTCTCAGCTAAATGCAACCTCCACCTCCCGGGTTCAAGGAATTCTCCTGCCTCAGTCTCCCCAGTAGCTGGGATTACAGGCATGCACTACCCCACCACCCCCCTCCCCCGCCCTGCTAATTTTTGTATTTTAGTAGAAACAGGGTTTTGCCACGTTGGCCAGGCTGGTCTCGAACTCGTGACCTCATGTAATCCCTCCACCTTGGTCTCCCAAAGTGCTAGGATTACAGGTGTGGGCCACTGCACCTAGCCTCTTTTATTTTTTGAGATAGGGTCCAAGGCTCAAGTGATCCCCCCTCCTCAGCCTCCCACGTAGCTGGGACGCCAGGTGCATGCCACCATACCCGGCTAATGTTTTGATTGTTTGTAGAGTCAAGGTTCTCACTGTGTTGACCAGGCTGATCTCAAACTCTTGGCCTCAAGCGATCCTCCCACCTCAGCCTCCCAAAGTGGTGAGATTCCAAGCATGAGCCACTGCCTGCGGCCCACCCCTACTCCCCCACCAGCCACCATATCATCTCCCAAATTCCAAGAGGGCAGATCCAAACATGGGAGTTTAAGGACCTTTTAAAAGAACCTGGAGATGACCTTAGCCGGGCTGCCTCAGATGGCGAAAAATTATCAGGGCGTGGTAAGCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCAGGAGAAGCTGGGCCCTGAGCCAAGGCTCTGCCCTGCAGGACAGCCAGCGGCACCCCTCCCTGCAGCCCCCACGGGCCTGGGGGTCCCCAGTGTGCAGCACCCACAGGTACTGCAAAGGCTGATGCCAGGCCCTGCCTGGGCTCTCACCAGAGACTCACTGGGGAGGAGCTGAGGGCGGAGTCCCCAGACACCCTCTGTGCCAGGTCTTTTCTGACCCCTGCCCTGGGCTCAGGTACTCACAGATGGCGGCGGCGGCCAGGCATTTCACAACGATTTGAGGAGGCTTGCAGCCCACATAGAAGGGCGCACACACATACTCGGAGAAGCTGAGGCAGATGATGGTGAAGGACGTGGGCTTAATGACGATCAGGCTGGCCCAGGAGAAGAGGTAGGCGGGGATGGGCCCGTAGGCCTCCATCAGGTAGGGATACTCTCCCCCTGACTTGGTGATCATTGTGCCAAGCTCCGCAAAGCACAGGGCACCTGGAACACAGAGAGGAAGGGCCCACAGGCCCCTTGTGAGGCACTGCCCCGGCCCCAGGGAGCCTTCCTCCCACCGGAGGCTGCGCTCGTATGGAGGGGCCCACCGTGGTCCGCCCTCGCTGGACGGCCCTGAGCTCCAGCGTTGGACATTCAGTCCAGCCTGATTTACACCTGTTTGCCATACATGTGCCAAGAGGGATACTGGCAGGGTGAGGGCTGGCACAGGTAGCAGCTGCCTGGCGTGCCCCTGCATGCTTCCGGGGCTGCAACAGGCTCCCAAGTCTCTTTACCCAGCGTCGCGAGGACCCCGCAAGCCGCCCATATGATGAGGCAGGGCCCCACAGCTTCCGTGTTGCTGAGCACAGACTTGGGGGAAACGAAGATCCCAGAGCCAATGATGGTGCCCACGATGATGGAGATGCCACTGATGAGGCCCAGCTGGGTGTGGAGGAAGGAAGAGGGCGTTAGTGCCACGCCCGGACCCAGCCCAGAAGGCCAGGTGCCACCCTCCCTCGGTACGGCCAGGGCGGCCCCAGCCAAAGCCCATGTCCCAGGCGCTTCCACCCTGAGCGGCTGCCCTGGCAACACCGGGGCACCGCTCCCGGAGCTTTGCTTATGTTAACGTGATTAATTATCGTGACAGCCCCGCGAGCTGGCCACACTGTGTCACCCCCATGGACAGAGGAGGACGCTGAGGCACAGAAAGATTAGGAGGCTGTCCGGGGTTTACAGCTAGAGAGGGGGAAACCTGGCTCAGGTTCCACGTGCCTAACCGTGATCCTGTGCCCTCAATGAAAAGGCTGACTTGGCAACAGCTCACCAATAAGAAAGGCCCTCGGGATACGCCTCTGAGCCTAGAGTCCTGGCCAGAGGCTCCATGCAGGGTGAGCAACGGAGGCCTCCCAGAAACAGAAACATTTGGGCACTCTGAACTTTCTGTGGTGCCATTTTCTTTTATCTTATTTTTATTTACTTATTTATTTAGAGTCAGATCTCTCTCTGTCACCCAGGCTGGAGCACAGAGGTGAGATCATGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAACAATCCTCCCAACTCAGCCTCCCAAAGTGCTGGGATTGCAGGCGTAAGCCGCCGTGCCTGGCCCAGTGCCATTTGCTAGGATGGGAGCTTTCTGAGAACAGAACCCAGCTCAAAGAGACACCAGATGGTTCCATGCCTGTGAAGTTCAAGAACAGGTGAAACTAATCCACAGCCACAGGAATTCAGGGCTGGGGCCCTGCCTAGAAAGGGGCACGAGGGAGCTTTCTGGGGTGGTACATCTGTCAAAACTCACCAAACTCAGCACTAAAGAGCTGTACATTTCGACCAGGTGCAGTGGTTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTTGGGAGTGGGAGACCAGCCTGGCCAGCATGGAGAAACCCCGTTTCTACTAAAAAATACAAAAATCAGCCAGGCATTTTGGTGCACACCTGTTCCTAGCTACTTAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCATGAGGCAGAGGTTGCAGTGAGCCACTACAATCACTCCAGCCTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAACCTGCACATTACACTGTATGTAAATTACACACCAATCAAGGAGGAAAAAAAAGTCCAACTCAAGCCCTACTCATAACACTCGTCCTCAGAAGCAGCCCCGGCCAGATCTCCAGAGCCTGAAGTTTCCAGCACCCATGTTCACCTGTCTGGGAAGAAGCTGGGCTTGGAGTCAGATCGCAGGGGATGAGGGGCTCCCAGCTGCAGGCTGCCACCCTGAGGACTCTGCACACACCAGTGGGATCCCTGGGGAGCAGCGTCTGCTTTCAGGGC 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Task1_train_27003 | The gene SLC7A9 (solute carrier family 7 member 9), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Cystinuria | TTTATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGAGCAGTGGCATGATCTCAGCTCACGATCTCAGCAATCTTTGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGACGACAGGTGCACGCCACTATGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGCTTGTCTGGAGGTTCTAGCGGGGGAGCGCAGCTACTCATATACCCTTGACCGAAGACCAGCCCTCCTCTATCGGGGATGGTCATCCTTTTCCACCGAGTGCGCAGCTTCGGGAGGGATGCACGTGGAGCAGTGAGGGAGGAAGAGGACACTGGCCTAGCCAGCCAGATCACCTGAATCAACCCTGGCGATCAGTGGGGTGACAGATGTCCCTGCCAGATCGCCCTCATATCCAATTTTTGTAATTTTATTTTTATCTATTTATTTATTTGAGATGGAGTCTCACTCTGTCGTCCAGGCTGGAGTGCAATGGCACAGTCTCAGCTAAATGCAACCTCCACCTCCCGGGTTCAAGGAATTCTCCTGCCTCAGTCTCCCCAGTAGCTGGGATTACAGGCATGCACTACCCCACCACCCCCCTCCCCCGCCCTGCTAATTTTTGTATTTTAGTAGAAACAGGGTTTTGCCACGTTGGCCAGGCTGGTCTCGAACTCGTGACCTCATGTAATCCCTCCACCTTGGTCTCCCAAAGTGCTAGGATTACAGGTGTGGGCCACTGCACCTAGCCTCTTTTATTTTTTGAGATAGGGTCCAAGGCTCAAGTGATCCCCCCTCCTCAGCCTCCCACGTAGCTGGGACGCCAGGTGCATGCCACCATACCCGGCTAATGTTTTGATTGTTTGTAGAGTCAAGGTTCTCACTGTGTTGACCAGGCTGATCTCAAACTCTTGGCCTCAAGCGATCCTCCCACCTCAGCCTCCCAAAGTGGTGAGATTCCAAGCATGAGCCACTGCCTGCGGCCCACCCCTACTCCCCCACCAGCCACCATATCATCTCCCAAATTCCAAGAGGGCAGATCCAAACATGGGAGTTTAAGGACCTTTTAAAAGAACCTGGAGATGACCTTAGCCGGGCTGCCTCAGATGGCGAAAAATTATCAGGGCGTGGTAAGCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCAGGAGAAGCTGGGCCCTGAGCCAAGGCTCTGCCCTGCAGGACAGCCAGCGGCACCCCTCCCTGCAGCCCCCACGGGCCTGGGGGTCCCCAGTGTGCAGCACCCACAGGTACTGCAAAGGCTGATGCCAGGCCCTGCCTGGGCTCTCACCAGAGACTCACTGGGGAGGAGCTGAGGGCGGAGTCCCCAGACACCCTCTGTGCCAGGTCTTTTCTGACCCCTGCCCTGGGCTCAGGTACTCACAGATGGCGGCGGCGGCCAGGCATTTCACAACGATTTGAGGAGGCTTGCAGCCCACATAGAAGGGCGCACACACATACTCGGAGAAGCTGAGGCAGATGATGGCGAAGGACGTGGGCTTAATGACGATCAGGCTGGCCCAGGAGAAGAGGTAGGCGGGGATGGGCCCGTAGGCCTCCATCAGGTAGGGATACTCTCCCCCTGACTTGGTGATCATTGTGCCAAGCTCCGCAAAGCACAGGGCACCTGGAACACAGAGAGGAAGGGCCCACAGGCCCCTTGTGAGGCACTGCCCCGGCCCCAGGGAGCCTTCCTCCCACCGGAGGCTGCGCTCGTATGGAGGGGCCCACCGTGGTCCGCCCTCGCTGGACGGCCCTGAGCTCCAGCGTTGGACATTCAGTCCAGCCTGATTTACACCTGTTTGCCATACATGTGCCAAGAGGGATACTGGCAGGGTGAGGGCTGGCACAGGTAGCAGCTGCCTGGCGTGCCCCTGCATGCTTCCGGGGCTGCAACAGGCTCCCAAGTCTCTTTACCCAGCGTCGCGAGGACCCCGCAAGCCGCCCATATGATGAGGCAGGGCCCCACAGCTTCCGTGTTGCTGAGCACAGACTTGGGGGAAACGAAGATCCCAGAGCCAATGATGGTGCCCACGATGATGGAGATGCCACTGATGAGGCCCAGCTGGGTGTGGAGGAAGGAAGAGGGCGTTAGTGCCACGCCCGGACCCAGCCCAGAAGGCCAGGTGCCACCCTCCCTCGGTACGGCCAGGGCGGCCCCAGCCAAAGCCCATGTCCCAGGCGCTTCCACCCTGAGCGGCTGCCCTGGCAACACCGGGGCACCGCTCCCGGAGCTTTGCTTATGTTAACGTGATTAATTATCGTGACAGCCCCGCGAGCTGGCCACACTGTGTCACCCCCATGGACAGAGGAGGACGCTGAGGCACAGAAAGATTAGGAGGCTGTCCGGGGTTTACAGCTAGAGAGGGGGAAACCTGGCTCAGGTTCCACGTGCCTAACCGTGATCCTGTGCCCTCAATGAAAAGGCTGACTTGGCAACAGCTCACCAATAAGAAAGGCCCTCGGGATACGCCTCTGAGCCTAGAGTCCTGGCCAGAGGCTCCATGCAGGGTGAGCAACGGAGGCCTCCCAGAAACAGAAACATTTGGGCACTCTGAACTTTCTGTGGTGCCATTTTCTTTTATCTTATTTTTATTTACTTATTTATTTAGAGTCAGATCTCTCTCTGTCACCCAGGCTGGAGCACAGAGGTGAGATCATGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAACAATCCTCCCAACTCAGCCTCCCAAAGTGCTGGGATTGCAGGCGTAAGCCGCCGTGCCTGGCCCAGTGCCATTTGCTAGGATGGGAGCTTTCTGAGAACAGAACCCAGCTCAAAGAGACACCAGATGGTTCCATGCCTGTGAAGTTCAAGAACAGGTGAAACTAATCCACAGCCACAGGAATTCAGGGCTGGGGCCCTGCCTAGAAAGGGGCACGAGGGAGCTTTCTGGGGTGGTACATCTGTCAAAACTCACCAAACTCAGCACTAAAGAGCTGTACATTTCGACCAGGTGCAGTGGTTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTTGGGAGTGGGAGACCAGCCTGGCCAGCATGGAGAAACCCCGTTTCTACTAAAAAATACAAAAATCAGCCAGGCATTTTGGTGCACACCTGTTCCTAGCTACTTAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCATGAGGCAGAGGTTGCAGTGAGCCACTACAATCACTCCAGCCTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAACCTGCACATTACACTGTATGTAAATTACACACCAATCAAGGAGGAAAAAAAAGTCCAACTCAAGCCCTACTCATAACACTCGTCCTCAGAAGCAGCCCCGGCCAGATCTCCAGAGCCTGAAGTTTCCAGCACCCATGTTCACCTGTCTGGGAAGAAGCTGGGCTTGGAGTCAGATCGCAGGGGATGAGGGGCTCCCAGCTGCAGGCTGCCACCCTGAGGACTCTGCACACACCAGTGGGATCCCTGGGGAGCAGCGTCTGCTTTCAGGGCCAGGGCGCACTTCCAGGACAGGGCGGGGATGGGCTCAGCTCTCCTCCTCATCTCAGCCCTGCCCAGGACTGGCAGTTTGGCTCCAGAATCCTCCCTCCTGCTGAGGGACTGCCTGGGTTCTGATGTGGGTGAGGTCTGCATTCGCCCTGAAGCTGCCTGACTGAGGAGTAGACCCAGCTCAGATTTTTGGTTTTTAGAGTCAGGGTCTCGCTCTGTCACCCAGGCTTGGAGTGCAATGGCGCGATCATGACTCACTGCAGCCTCGATCTCCTGGGCTCAAGGGATCCTCCCACCTCAGCCTCCCAAAGTGCTAAGGTTACAGGCGTGTGCCGCCACACCTGTCCCCAGCTCAGAAGACACATCTTGGGGATTTCTCAGCTGTGCTCTGTGGCCACTGGGGCCCACCAGGGTTCTAAGAGGCCCTTCCTGAGATCAGGCCTGAGACTGGCAGAGAGGGAAAGTGCTGCAGCCCATCGTCTACCTCCTGGGGGTCCCAGGCCAAGCCATTCAGGCCA 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TTTATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGAGCAGTGGCATGATCTCAGCTCACGATCTCAGCAATCTTTGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGACGACAGGTGCACGCCACTATGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGCTTGTCTGGAGGTTCTAGCGGGGGAGCGCAGCTACTCATATACCCTTGACCGAAGACCAGCCCTCCTCTATCGGGGATGGTCATCCTTTTCCACCGAGTGCGCAGCTTCGGGAGGGATGCACGTGGAGCAGTGAGGGAGGAAGAGGACACTGGCCTAGCCAGCCAGATCACCTGAATCAACCCTGGCGATCAGTGGGGTGACAGATGTCCCTGCCAGATCGCCCTCATATCCAATTTTTGTAATTTTATTTTTATCTATTTATTTATTTGAGATGGAGTCTCACTCTGTCGTCCAGGCTGGAGTGCAATGGCACAGTCTCAGCTAAATGCAACCTCCACCTCCCGGGTTCAAGGAATTCTCCTGCCTCAGTCTCCCCAGTAGCTGGGATTACAGGCATGCACTACCCCACCACCCCCCTCCCCCGCCCTGCTAATTTTTGTATTTTAGTAGAAACAGGGTTTTGCCACGTTGGCCAGGCTGGTCTCGAACTCGTGACCTCATGTAATCCCTCCACCTTGGTCTCCCAAAGTGCTAGGATTACAGGTGTGGGCCACTGCACCTAGCCTCTTTTATTTTTTGAGATAGGGTCCAAGGCTCAAGTGATCCCCCCTCCTCAGCCTCCCACGTAGCTGGGACGCCAGGTGCATGCCACCATACCCGGCTAATGTTTTGATTGTTTGTAGAGTCAAGGTTCTCACTGTGTTGACCAGGCTGATCTCAAACTCTTGGCCTCAAGCGATCCTCCCACCTCAGCCTCCCAAAGTGGTGAGATTCCAAGCATGAGCCACTGCCTGCGGCCCACCCCTACTCCCCCACCAGCCACCATATCATCTCCCAAATTCCAAGAGGGCAGATCCAAACATGGGAGTTTAAGGACCTTTTAAAAGAACCTGGAGATGACCTTAGCCGGGCTGCCTCAGATGGCGAAAAATTATCAGGGCGTGGTAAGCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCAGGAGAAGCTGGGCCCTGAGCCAAGGCTCTGCCCTGCAGGACAGCCAGCGGCACCCCTCCCTGCAGCCCCCACGGGCCTGGGGGTCCCCAGTGTGCAGCACCCACAGGTACTGCAAAGGCTGATGCCAGGCCCTGCCTGGGCTCTCACCAGAGACTCACTGGGGAGGAGCTGAGGGCGGAGTCCCCAGACACCCTCTGTGCCAGGTCTTTTCTGACCCCTGCCCTGGGCTCAGGTACTCACAGATGGCGGCGGCGGCCAGGCATTTCACAACGATTTGAGGAGGCTTGCAGCCCACATAGAAGGGCGCACACACATACTCGGAGAAGCTGAGGCAGATGATGGCGAAGGACGTGGGCTTAATGACGATCAGGCTGGCCCAGGAGAAGAGGTAGGCGGGGATGGGCCCGTAGGCCTCCATCAGGTAGGGATACTCTCCCCCTGACTTGGTGATCATTGTGCCAAGCTCCGCAAAGCACAGGGCACCTGGAACACAGAGAGGAAGGGCCCACAGGCCCCTTGTGAGGCACTGCCCCGGCCCCAGGGAGCCTTCCTCCCACCGGAGGCTGCGCTCGTATGGAGGGGCCCACCGTGGTCCGCCCTCGCTGGACGGCCCTGAGCTCCAGCGTTGGACATTCAGTCCAGCCTGATTTACACCTGTTTGCCATACATGTGCCAAGAGGGATACTGGCAGGGTGAGGGCTGGCACAGGTAGCAGCTGCCTGGCGTGCCCCTGCATGCTTCCGGGGCTGCAACAGGCTCCCAAGTCTCTTTACCCAGCGTCGCGAGGACCCCGCAAGCCGCCCATATGATGAGGCAGGGCCCCACAGCTTCCGTGTTGCTGAGCACAGACTTGGGGGGAACGAAGATCCCAGAGCCAATGATGGTGCCCACGATGATGGAGATGCCACTGATGAGGCCCAGCTGGGTGTGGAGGAAGGAAGAGGGCGTTAGTGCCACGCCCGGACCCAGCCCAGAAGGCCAGGTGCCACCCTCCCTCGGTACGGCCAGGGCGGCCCCAGCCAAAGCCCATGTCCCAGGCGCTTCCACCCTGAGCGGCTGCCCTGGCAACACCGGGGCACCGCTCCCGGAGCTTTGCTTATGTTAACGTGATTAATTATCGTGACAGCCCCGCGAGCTGGCCACACTGTGTCACCCCCATGGACAGAGGAGGACGCTGAGGCACAGAAAGATTAGGAGGCTGTCCGGGGTTTACAGCTAGAGAGGGGGAAACCTGGCTCAGGTTCCACGTGCCTAACCGTGATCCTGTGCCCTCAATGAAAAGGCTGACTTGGCAACAGCTCACCAATAAGAAAGGCCCTCGGGATACGCCTCTGAGCCTAGAGTCCTGGCCAGAGGCTCCATGCAGGGTGAGCAACGGAGGCCTCCCAGAAACAGAAACATTTGGGCACTCTGAACTTTCTGTGGTGCCATTTTCTTTTATCTTATTTTTATTTACTTATTTATTTAGAGTCAGATCTCTCTCTGTCACCCAGGCTGGAGCACAGAGGTGAGATCATGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAACAATCCTCCCAACTCAGCCTCCCAAAGTGCTGGGATTGCAGGCGTAAGCCGCCGTGCCTGGCCCAGTGCCATTTGCTAGGATGGGAGCTTTCTGAGAACAGAACCCAGCTCAAAGAGACACCAGATGGTTCCATGCCTGTGAAGTTCAAGAACAGGTGAAACTAATCCACAGCCACAGGAATTCAGGGCTGGGGCCCTGCCTAGAAAGGGGCACGAGGGAGCTTTCTGGGGTGGTACATCTGTCAAAACTCACCAAACTCAGCACTAAAGAGCTGTACATTTCGACCAGGTGCAGTGGTTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTTGGGAGTGGGAGACCAGCCTGGCCAGCATGGAGAAACCCCGTTTCTACTAAAAAATACAAAAATCAGCCAGGCATTTTGGTGCACACCTGTTCCTAGCTACTTAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCATGAGGCAGAGGTTGCAGTGAGCCACTACAATCACTCCAGCCTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAACCTGCACATTACACTGTATGTAAATTACACACCAATCAAGGAGGAAAAAAAAGTCCAACTCAAGCCCTACTCATAACACTCGTCCTCAGAAGCAGCCCCGGCCAGATCTCCAGAGCCTGAAGTTTCCAGCACCCATGTTCACCTGTCTGGGAAGAAGCTGGGCTTGGAGTCAGATCGCAGGGGATGAGGGGCTCCCAGCTGCAGGCTGCCACCCTGAGGACTCTGCACACACCAGTGGGATCCCTGGGGAGCAGCGTCTGCTTTCAGGGCCAGGGCGCACTTCCAGGACAGGGCGGGGATGGGCTCAGCTCTCCTCCTCATCTCAGCCCTGCCCAGGACTGGCAGTTTGGCTCCAGAATCCTCCCTCCTGCTGAGGGACTGCCTGGGTTCTGATGTGGGTGAGGTCTGCATTCGCCCTGAAGCTGCCTGACTGAGGAGTAGACCCAGCTCAGATTTTTGGTTTTTAGAGTCAGGGTCTCGCTCTGTCACCCAGGCTTGGAGTGCAATGGCGCGATCATGACTCACTGCAGCCTCGATCTCCTGGGCTCAAGGGATCCTCCCACCTCAGCCTCCCAAAGTGCTAAGGTTACAGGCGTGTGCCGCCACACCTGTCCCCAGCTCAGAAGACACATCTTGGGGATTTCTCAGCTGTGCTCTGTGGCCACTGGGGCCCACCAGGGTTCTAAGAGGCCCTTCCTGAGATCAGGCCTGAGACTGGCAGAGAGGGAAAGTGCTGCAGCCCATCGTCTACCTCCTGGGGGTCCCAGGCCAAGCCATTCAGGCCA 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Task1_train_27004 | A variant was discovered on Chromosome 19, affecting SLC7A9 (solute carrier family 7 member 9). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Cystine urolithiasis | TTTATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGAGCAGTGGCATGATCTCAGCTCACGATCTCAGCAATCTTTGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGACGACAGGTGCACGCCACTATGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGCTTGTCTGGAGGTTCTAGCGGGGGAGCGCAGCTACTCATATACCCTTGACCGAAGACCAGCCCTCCTCTATCGGGGATGGTCATCCTTTTCCACCGAGTGCGCAGCTTCGGGAGGGATGCACGTGGAGCAGTGAGGGAGGAAGAGGACACTGGCCTAGCCAGCCAGATCACCTGAATCAACCCTGGCGATCAGTGGGGTGACAGATGTCCCTGCCAGATCGCCCTCATATCCAATTTTTGTAATTTTATTTTTATCTATTTATTTATTTGAGATGGAGTCTCACTCTGTCGTCCAGGCTGGAGTGCAATGGCACAGTCTCAGCTAAATGCAACCTCCACCTCCCGGGTTCAAGGAATTCTCCTGCCTCAGTCTCCCCAGTAGCTGGGATTACAGGCATGCACTACCCCACCACCCCCCTCCCCCGCCCTGCTAATTTTTGTATTTTAGTAGAAACAGGGTTTTGCCACGTTGGCCAGGCTGGTCTCGAACTCGTGACCTCATGTAATCCCTCCACCTTGGTCTCCCAAAGTGCTAGGATTACAGGTGTGGGCCACTGCACCTAGCCTCTTTTATTTTTTGAGATAGGGTCCAAGGCTCAAGTGATCCCCCCTCCTCAGCCTCCCACGTAGCTGGGACGCCAGGTGCATGCCACCATACCCGGCTAATGTTTTGATTGTTTGTAGAGTCAAGGTTCTCACTGTGTTGACCAGGCTGATCTCAAACTCTTGGCCTCAAGCGATCCTCCCACCTCAGCCTCCCAAAGTGGTGAGATTCCAAGCATGAGCCACTGCCTGCGGCCCACCCCTACTCCCCCACCAGCCACCATATCATCTCCCAAATTCCAAGAGGGCAGATCCAAACATGGGAGTTTAAGGACCTTTTAAAAGAACCTGGAGATGACCTTAGCCGGGCTGCCTCAGATGGCGAAAAATTATCAGGGCGTGGTAAGCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCAGGAGAAGCTGGGCCCTGAGCCAAGGCTCTGCCCTGCAGGACAGCCAGCGGCACCCCTCCCTGCAGCCCCCACGGGCCTGGGGGTCCCCAGTGTGCAGCACCCACAGGTACTGCAAAGGCTGATGCCAGGCCCTGCCTGGGCTCTCACCAGAGACTCACTGGGGAGGAGCTGAGGGCGGAGTCCCCAGACACCCTCTGTGCCAGGTCTTTTCTGACCCCTGCCCTGGGCTCAGGTACTCACAGATGGCGGCGGCGGCCAGGCATTTCACAACGATTTGAGGAGGCTTGCAGCCCACATAGAAGGGCGCACACACATACTCGGAGAAGCTGAGGCAGATGATGGCGAAGGACGTGGGCTTAATGACGATCAGGCTGGCCCAGGAGAAGAGGTAGGCGGGGATGGGCCCGTAGGCCTCCATCAGGTAGGGATACTCTCCCCCTGACTTGGTGATCATTGTGCCAAGCTCCGCAAAGCACAGGGCACCTGGAACACAGAGAGGAAGGGCCCACAGGCCCCTTGTGAGGCACTGCCCCGGCCCCAGGGAGCCTTCCTCCCACCGGAGGCTGCGCTCGTATGGAGGGGCCCACCGTGGTCCGCCCTCGCTGGACGGCCCTGAGCTCCAGCGTTGGACATTCAGTCCAGCCTGATTTACACCTGTTTGCCATACATGTGCCAAGAGGGATACTGGCAGGGTGAGGGCTGGCACAGGTAGCAGCTGCCTGGCGTGCCCCTGCATGCTTCCGGGGCTGCAACAGGCTCCCAAGTCTCTTTACCCAGCGTCGCGAGGACCCCGCAAGCCGCCCATATGATGAGGCAGGGCCCCACAGCTTCCGTGTTGCTGAGCACAGACTTGGGGGAAACGAAGATCCCAGAGCCAATGATGGTGCCCACGATGATGGAGATGCCACTGATGAGGCCCAGCTGGGTGTGGAGGAAGGAAGAGGGCGTTAGTGCCACGCCCGGACCCAGCCCAGAAGGCCAGGTGCCACCCTCCCTCGGTACGGCCAGGGCGGCCCCAGCCAAAGCCCATGTCCCAGGCGCTTCCACCCTGAGCGGCTGCCCTGGCAACACCGGGGCACCGCTCCCGGAGCTTTGCTTATGTTAACGTGATTAATTATCGTGACAGCCCCGCGAGCTGGCCACACTGTGTCACCCCCATGGACAGAGGAGGACGCTGAGGCACAGAAAGATTAGGAGGCTGTCCGGGGTTTACAGCTAGAGAGGGGGAAACCTGGCTCAGGTTCCACGTGCCTAACCGTGATCCTGTGCCCTCAATGAAAAGGCTGACTTGGCAACAGCTCACCAATAAGAAAGGCCCTCGGGATACGCCTCTGAGCCTAGAGTCCTGGCCAGAGGCTCCATGCAGGGTGAGCAACGGAGGCCTCCCAGAAACAGAAACATTTGGGCACTCTGAACTTTCTGTGGTGCCATTTTCTTTTATCTTATTTTTATTTACTTATTTATTTAGAGTCAGATCTCTCTCTGTCACCCAGGCTGGAGCACAGAGGTGAGATCATGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAACAATCCTCCCAACTCAGCCTCCCAAAGTGCTGGGATTGCAGGCGTAAGCCGCCGTGCCTGGCCCAGTGCCATTTGCTAGGATGGGAGCTTTCTGAGAACAGAACCCAGCTCAAAGAGACACCAGATGGTTCCATGCCTGTGAAGTTCAAGAACAGGTGAAACTAATCCACAGCCACAGGAATTCAGGGCTGGGGCCCTGCCTAGAAAGGGGCACGAGGGAGCTTTCTGGGGTGGTACATCTGTCAAAACTCACCAAACTCAGCACTAAAGAGCTGTACATTTCGACCAGGTGCAGTGGTTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTTGGGAGTGGGAGACCAGCCTGGCCAGCATGGAGAAACCCCGTTTCTACTAAAAAATACAAAAATCAGCCAGGCATTTTGGTGCACACCTGTTCCTAGCTACTTAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCATGAGGCAGAGGTTGCAGTGAGCCACTACAATCACTCCAGCCTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAACCTGCACATTACACTGTATGTAAATTACACACCAATCAAGGAGGAAAAAAAAGTCCAACTCAAGCCCTACTCATAACACTCGTCCTCAGAAGCAGCCCCGGCCAGATCTCCAGAGCCTGAAGTTTCCAGCACCCATGTTCACCTGTCTGGGAAGAAGCTGGGCTTGGAGTCAGATCGCAGGGGATGAGGGGCTCCCAGCTGCAGGCTGCCACCCTGAGGACTCTGCACACACCAGTGGGATCCCTGGGGAGCAGCGTCTGCTTTCAGGGCCAGGGCGCACTTCCAGGACAGGGCGGGGATGGGCTCAGCTCTCCTCCTCATCTCAGCCCTGCCCAGGACTGGCAGTTTGGCTCCAGAATCCTCCCTCCTGCTGAGGGACTGCCTGGGTTCTGATGTGGGTGAGGTCTGCATTCGCCCTGAAGCTGCCTGACTGAGGAGTAGACCCAGCTCAGATTTTTGGTTTTTAGAGTCAGGGTCTCGCTCTGTCACCCAGGCTTGGAGTGCAATGGCGCGATCATGACTCACTGCAGCCTCGATCTCCTGGGCTCAAGGGATCCTCCCACCTCAGCCTCCCAAAGTGCTAAGGTTACAGGCGTGTGCCGCCACACCTGTCCCCAGCTCAGAAGACACATCTTGGGGATTTCTCAGCTGTGCTCTGTGGCCACTGGGGCCCACCAGGGTTCTAAGAGGCCCTTCCTGAGATCAGGCCTGAGACTGGCAGAGAGGGAAAGTGCTGCAGCCCATCGTCTACCTCCTGGGGGTCCCAGGCCAAGCCATTCAGGCCA 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TTTATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGAGCAGTGGCATGATCTCAGCTCACGATCTCAGCAATCTTTGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGACGACAGGTGCACGCCACTATGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGCTTGTCTGGAGGTTCTAGCGGGGGAGCGCAGCTACTCATATACCCTTGACCGAAGACCAGCCCTCCTCTATCGGGGATGGTCATCCTTTTCCACCGAGTGCGCAGCTTCGGGAGGGATGCACGTGGAGCAGTGAGGGAGGAAGAGGACACTGGCCTAGCCAGCCAGATCACCTGAATCAACCCTGGCGATCAGTGGGGTGACAGATGTCCCTGCCAGATCGCCCTCATATCCAATTTTTGTAATTTTATTTTTATCTATTTATTTATTTGAGATGGAGTCTCACTCTGTCGTCCAGGCTGGAGTGCAATGGCACAGTCTCAGCTAAATGCAACCTCCACCTCCCGGGTTCAAGGAATTCTCCTGCCTCAGTCTCCCCAGTAGCTGGGATTACAGGCATGCACTACCCCACCACCCCCCTCCCCCGCCCTGCTAATTTTTGTATTTTAGTAGAAACAGGGTTTTGCCACGTTGGCCAGGCTGGTCTCGAACTCGTGACCTCATGTAATCCCTCCACCTTGGTCTCCCAAAGTGCTAGGATTACAGGTGTGGGCCACTGCACCTAGCCTCTTTTATTTTTTGAGATAGGGTCCAAGGCTCAAGTGATCCCCCCTCCTCAGCCTCCCACGTAGCTGGGACGCCAGGTGCATGCCACCATACCCGGCTAATGTTTTGATTGTTTGTAGAGTCAAGGTTCTCACTGTGTTGACCAGGCTGATCTCAAACTCTTGGCCTCAAGCGATCCTCCCACCTCAGCCTCCCAAAGTGGTGAGATTCCAAGCATGAGCCACTGCCTGCGGCCCACCCCTACTCCCCCACCAGCCACCATATCATCTCCCAAATTCCAAGAGGGCAGATCCAAACATGGGAGTTTAAGGACCTTTTAAAAGAACCTGGAGATGACCTTAGCCGGGCTGCCTCAGATGGCGAAAAATTATCAGGGCGTGGTAAGCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCAGGAGAAGCTGGGCCCTGAGCCAAGGCTCTGCCCTGCAGGACAGCCAGCGGCACCCCTCCCTGCAGCCCCCACGGGCCTGGGGGTCCCCAGTGTGCAGCACCCACAGGTACTGCAAAGGCTGATGCCAGGCCCTGCCTGGGCTCTCACCAGAGACTCACTGGGGAGGAGCTGAGGGCGGAGTCCCCAGACACCCTCTGTGCCAGGTCTTTTCTGACCCCTGCCCTGGGCTCAGGTACTCACAGATGGCGGCGGCGGCCAGGCATTTCACAACGATTTGAGGAGGCTTGCAGCCCACATAGAAGGGCGCACACACATACTCGGAGAAGCTGAGGCAGATGATGGCGAAGGACGTGGGCTTAATGACGATCAGGCTGGCCCAGGAGAAGAGGTAGGCGGGGATGGGCCCGTAGGCCTCCATCAGGTAGGGATACTCTCCCCCTGACTTGGTGATCATTGTGCCAAGCTCCGCAAAGCACAGGGCACCTGGAACACAGAGAGGAAGGGCCCACAGGCCCCTTGTGAGGCACTGCCCCGGCCCCAGGGAGCCTTCCTCCCACCGGAGGCTGCGCTCGTATGGAGGGGCCCACCGTGGTCCGCCCTCGCTGGACGGCCCTGAGCTCCAGCGTTGGACATTCAGTCCAGCCTGATTTACACCTGTTTGCCATACATGTGCCAAGAGGGATACTGGCAGGGTGAGGGCTGGCACAGGTAGCAGCTGCCTGGCGTGCCCCTGCATGCTTCCGGGGCTGCAACAGGCTCCCAAGTCTCTTTACCCAGCGTCGCGAGGACCCCGCAAGCCGCCCATATGATGAGGCAGGGCCCCACAGCTTCCGTGTTGCTGAGCACAGACTTGGGGGGAACGAAGATCCCAGAGCCAATGATGGTGCCCACGATGATGGAGATGCCACTGATGAGGCCCAGCTGGGTGTGGAGGAAGGAAGAGGGCGTTAGTGCCACGCCCGGACCCAGCCCAGAAGGCCAGGTGCCACCCTCCCTCGGTACGGCCAGGGCGGCCCCAGCCAAAGCCCATGTCCCAGGCGCTTCCACCCTGAGCGGCTGCCCTGGCAACACCGGGGCACCGCTCCCGGAGCTTTGCTTATGTTAACGTGATTAATTATCGTGACAGCCCCGCGAGCTGGCCACACTGTGTCACCCCCATGGACAGAGGAGGACGCTGAGGCACAGAAAGATTAGGAGGCTGTCCGGGGTTTACAGCTAGAGAGGGGGAAACCTGGCTCAGGTTCCACGTGCCTAACCGTGATCCTGTGCCCTCAATGAAAAGGCTGACTTGGCAACAGCTCACCAATAAGAAAGGCCCTCGGGATACGCCTCTGAGCCTAGAGTCCTGGCCAGAGGCTCCATGCAGGGTGAGCAACGGAGGCCTCCCAGAAACAGAAACATTTGGGCACTCTGAACTTTCTGTGGTGCCATTTTCTTTTATCTTATTTTTATTTACTTATTTATTTAGAGTCAGATCTCTCTCTGTCACCCAGGCTGGAGCACAGAGGTGAGATCATGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAACAATCCTCCCAACTCAGCCTCCCAAAGTGCTGGGATTGCAGGCGTAAGCCGCCGTGCCTGGCCCAGTGCCATTTGCTAGGATGGGAGCTTTCTGAGAACAGAACCCAGCTCAAAGAGACACCAGATGGTTCCATGCCTGTGAAGTTCAAGAACAGGTGAAACTAATCCACAGCCACAGGAATTCAGGGCTGGGGCCCTGCCTAGAAAGGGGCACGAGGGAGCTTTCTGGGGTGGTACATCTGTCAAAACTCACCAAACTCAGCACTAAAGAGCTGTACATTTCGACCAGGTGCAGTGGTTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTTGGGAGTGGGAGACCAGCCTGGCCAGCATGGAGAAACCCCGTTTCTACTAAAAAATACAAAAATCAGCCAGGCATTTTGGTGCACACCTGTTCCTAGCTACTTAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCATGAGGCAGAGGTTGCAGTGAGCCACTACAATCACTCCAGCCTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAACCTGCACATTACACTGTATGTAAATTACACACCAATCAAGGAGGAAAAAAAAGTCCAACTCAAGCCCTACTCATAACACTCGTCCTCAGAAGCAGCCCCGGCCAGATCTCCAGAGCCTGAAGTTTCCAGCACCCATGTTCACCTGTCTGGGAAGAAGCTGGGCTTGGAGTCAGATCGCAGGGGATGAGGGGCTCCCAGCTGCAGGCTGCCACCCTGAGGACTCTGCACACACCAGTGGGATCCCTGGGGAGCAGCGTCTGCTTTCAGGGCCAGGGCGCACTTCCAGGACAGGGCGGGGATGGGCTCAGCTCTCCTCCTCATCTCAGCCCTGCCCAGGACTGGCAGTTTGGCTCCAGAATCCTCCCTCCTGCTGAGGGACTGCCTGGGTTCTGATGTGGGTGAGGTCTGCATTCGCCCTGAAGCTGCCTGACTGAGGAGTAGACCCAGCTCAGATTTTTGGTTTTTAGAGTCAGGGTCTCGCTCTGTCACCCAGGCTTGGAGTGCAATGGCGCGATCATGACTCACTGCAGCCTCGATCTCCTGGGCTCAAGGGATCCTCCCACCTCAGCCTCCCAAAGTGCTAAGGTTACAGGCGTGTGCCGCCACACCTGTCCCCAGCTCAGAAGACACATCTTGGGGATTTCTCAGCTGTGCTCTGTGGCCACTGGGGCCCACCAGGGTTCTAAGAGGCCCTTCCTGAGATCAGGCCTGAGACTGGCAGAGAGGGAAAGTGCTGCAGCCCATCGTCTACCTCCTGGGGGTCCCAGGCCAAGCCATTCAGGCCA 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Task1_train_27005 | This alteration occurs within gene SLC7A9 (solute carrier family 7 member 9) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; Cystinuria | AGATGGAGTCTCACTCTGTCACCCAGGCTGGAGAGCAGTGGCATGATCTCAGCTCACGATCTCAGCAATCTTTGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGACGACAGGTGCACGCCACTATGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGCTTGTCTGGAGGTTCTAGCGGGGGAGCGCAGCTACTCATATACCCTTGACCGAAGACCAGCCCTCCTCTATCGGGGATGGTCATCCTTTTCCACCGAGTGCGCAGCTTCGGGAGGGATGCACGTGGAGCAGTGAGGGAGGAAGAGGACACTGGCCTAGCCAGCCAGATCACCTGAATCAACCCTGGCGATCAGTGGGGTGACAGATGTCCCTGCCAGATCGCCCTCATATCCAATTTTTGTAATTTTATTTTTATCTATTTATTTATTTGAGATGGAGTCTCACTCTGTCGTCCAGGCTGGAGTGCAATGGCACAGTCTCAGCTAAATGCAACCTCCACCTCCCGGGTTCAAGGAATTCTCCTGCCTCAGTCTCCCCAGTAGCTGGGATTACAGGCATGCACTACCCCACCACCCCCCTCCCCCGCCCTGCTAATTTTTGTATTTTAGTAGAAACAGGGTTTTGCCACGTTGGCCAGGCTGGTCTCGAACTCGTGACCTCATGTAATCCCTCCACCTTGGTCTCCCAAAGTGCTAGGATTACAGGTGTGGGCCACTGCACCTAGCCTCTTTTATTTTTTGAGATAGGGTCCAAGGCTCAAGTGATCCCCCCTCCTCAGCCTCCCACGTAGCTGGGACGCCAGGTGCATGCCACCATACCCGGCTAATGTTTTGATTGTTTGTAGAGTCAAGGTTCTCACTGTGTTGACCAGGCTGATCTCAAACTCTTGGCCTCAAGCGATCCTCCCACCTCAGCCTCCCAAAGTGGTGAGATTCCAAGCATGAGCCACTGCCTGCGGCCCACCCCTACTCCCCCACCAGCCACCATATCATCTCCCAAATTCCAAGAGGGCAGATCCAAACATGGGAGTTTAAGGACCTTTTAAAAGAACCTGGAGATGACCTTAGCCGGGCTGCCTCAGATGGCGAAAAATTATCAGGGCGTGGTAAGCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCAGGAGAAGCTGGGCCCTGAGCCAAGGCTCTGCCCTGCAGGACAGCCAGCGGCACCCCTCCCTGCAGCCCCCACGGGCCTGGGGGTCCCCAGTGTGCAGCACCCACAGGTACTGCAAAGGCTGATGCCAGGCCCTGCCTGGGCTCTCACCAGAGACTCACTGGGGAGGAGCTGAGGGCGGAGTCCCCAGACACCCTCTGTGCCAGGTCTTTTCTGACCCCTGCCCTGGGCTCAGGTACTCACAGATGGCGGCGGCGGCCAGGCATTTCACAACGATTTGAGGAGGCTTGCAGCCCACATAGAAGGGCGCACACACATACTCGGAGAAGCTGAGGCAGATGATGGCGAAGGACGTGGGCTTAATGACGATCAGGCTGGCCCAGGAGAAGAGGTAGGCGGGGATGGGCCCGTAGGCCTCCATCAGGTAGGGATACTCTCCCCCTGACTTGGTGATCATTGTGCCAAGCTCCGCAAAGCACAGGGCACCTGGAACACAGAGAGGAAGGGCCCACAGGCCCCTTGTGAGGCACTGCCCCGGCCCCAGGGAGCCTTCCTCCCACCGGAGGCTGCGCTCGTATGGAGGGGCCCACCGTGGTCCGCCCTCGCTGGACGGCCCTGAGCTCCAGCGTTGGACATTCAGTCCAGCCTGATTTACACCTGTTTGCCATACATGTGCCAAGAGGGATACTGGCAGGGTGAGGGCTGGCACAGGTAGCAGCTGCCTGGCGTGCCCCTGCATGCTTCCGGGGCTGCAACAGGCTCCCAAGTCTCTTTACCCAGCGTCGCGAGGACCCCGCAAGCCGCCCATATGATGAGGCAGGGCCCCACAGCTTCCGTGTTGCTGAGCACAGACTTGGGGGAAACGAAGATCCCAGAGCCAATGATGGTGCCCACGATGATGGAGATGCCACTGATGAGGCCCAGCTGGGTGTGGAGGAAGGAAGAGGGCGTTAGTGCCACGCCCGGACCCAGCCCAGAAGGCCAGGTGCCACCCTCCCTCGGTACGGCCAGGGCGGCCCCAGCCAAAGCCCATGTCCCAGGCGCTTCCACCCTGAGCGGCTGCCCTGGCAACACCGGGGCACCGCTCCCGGAGCTTTGCTTATGTTAACGTGATTAATTATCGTGACAGCCCCGCGAGCTGGCCACACTGTGTCACCCCCATGGACAGAGGAGGACGCTGAGGCACAGAAAGATTAGGAGGCTGTCCGGGGTTTACAGCTAGAGAGGGGGAAACCTGGCTCAGGTTCCACGTGCCTAACCGTGATCCTGTGCCCTCAATGAAAAGGCTGACTTGGCAACAGCTCACCAATAAGAAAGGCCCTCGGGATACGCCTCTGAGCCTAGAGTCCTGGCCAGAGGCTCCATGCAGGGTGAGCAACGGAGGCCTCCCAGAAACAGAAACATTTGGGCACTCTGAACTTTCTGTGGTGCCATTTTCTTTTATCTTATTTTTATTTACTTATTTATTTAGAGTCAGATCTCTCTCTGTCACCCAGGCTGGAGCACAGAGGTGAGATCATGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAACAATCCTCCCAACTCAGCCTCCCAAAGTGCTGGGATTGCAGGCGTAAGCCGCCGTGCCTGGCCCAGTGCCATTTGCTAGGATGGGAGCTTTCTGAGAACAGAACCCAGCTCAAAGAGACACCAGATGGTTCCATGCCTGTGAAGTTCAAGAACAGGTGAAACTAATCCACAGCCACAGGAATTCAGGGCTGGGGCCCTGCCTAGAAAGGGGCACGAGGGAGCTTTCTGGGGTGGTACATCTGTCAAAACTCACCAAACTCAGCACTAAAGAGCTGTACATTTCGACCAGGTGCAGTGGTTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTTGGGAGTGGGAGACCAGCCTGGCCAGCATGGAGAAACCCCGTTTCTACTAAAAAATACAAAAATCAGCCAGGCATTTTGGTGCACACCTGTTCCTAGCTACTTAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCATGAGGCAGAGGTTGCAGTGAGCCACTACAATCACTCCAGCCTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAACCTGCACATTACACTGTATGTAAATTACACACCAATCAAGGAGGAAAAAAAAGTCCAACTCAAGCCCTACTCATAACACTCGTCCTCAGAAGCAGCCCCGGCCAGATCTCCAGAGCCTGAAGTTTCCAGCACCCATGTTCACCTGTCTGGGAAGAAGCTGGGCTTGGAGTCAGATCGCAGGGGATGAGGGGCTCCCAGCTGCAGGCTGCCACCCTGAGGACTCTGCACACACCAGTGGGATCCCTGGGGAGCAGCGTCTGCTTTCAGGGCCAGGGCGCACTTCCAGGACAGGGCGGGGATGGGCTCAGCTCTCCTCCTCATCTCAGCCCTGCCCAGGACTGGCAGTTTGGCTCCAGAATCCTCCCTCCTGCTGAGGGACTGCCTGGGTTCTGATGTGGGTGAGGTCTGCATTCGCCCTGAAGCTGCCTGACTGAGGAGTAGACCCAGCTCAGATTTTTGGTTTTTAGAGTCAGGGTCTCGCTCTGTCACCCAGGCTTGGAGTGCAATGGCGCGATCATGACTCACTGCAGCCTCGATCTCCTGGGCTCAAGGGATCCTCCCACCTCAGCCTCCCAAAGTGCTAAGGTTACAGGCGTGTGCCGCCACACCTGTCCCCAGCTCAGAAGACACATCTTGGGGATTTCTCAGCTGTGCTCTGTGGCCACTGGGGCCCACCAGGGTTCTAAGAGGCCCTTCCTGAGATCAGGCCTGAGACTGGCAGAGAGGGAAAGTGCTGCAGCCCATCGTCTACCTCCTGGGGGTCCCAGGCCAAGCCATTCAGGCCATTGCCAGCCCTCCGGTCAAG 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AGATGGAGTCTCACTCTGTCACCCAGGCTGGAGAGCAGTGGCATGATCTCAGCTCACGATCTCAGCAATCTTTGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGACGACAGGTGCACGCCACTATGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGCTTGTCTGGAGGTTCTAGCGGGGGAGCGCAGCTACTCATATACCCTTGACCGAAGACCAGCCCTCCTCTATCGGGGATGGTCATCCTTTTCCACCGAGTGCGCAGCTTCGGGAGGGATGCACGTGGAGCAGTGAGGGAGGAAGAGGACACTGGCCTAGCCAGCCAGATCACCTGAATCAACCCTGGCGATCAGTGGGGTGACAGATGTCCCTGCCAGATCGCCCTCATATCCAATTTTTGTAATTTTATTTTTATCTATTTATTTATTTGAGATGGAGTCTCACTCTGTCGTCCAGGCTGGAGTGCAATGGCACAGTCTCAGCTAAATGCAACCTCCACCTCCCGGGTTCAAGGAATTCTCCTGCCTCAGTCTCCCCAGTAGCTGGGATTACAGGCATGCACTACCCCACCACCCCCCTCCCCCGCCCTGCTAATTTTTGTATTTTAGTAGAAACAGGGTTTTGCCACGTTGGCCAGGCTGGTCTCGAACTCGTGACCTCATGTAATCCCTCCACCTTGGTCTCCCAAAGTGCTAGGATTACAGGTGTGGGCCACTGCACCTAGCCTCTTTTATTTTTTGAGATAGGGTCCAAGGCTCAAGTGATCCCCCCTCCTCAGCCTCCCACGTAGCTGGGACGCCAGGTGCATGCCACCATACCCGGCTAATGTTTTGATTGTTTGTAGAGTCAAGGTTCTCACTGTGTTGACCAGGCTGATCTCAAACTCTTGGCCTCAAGCGATCCTCCCACCTCAGCCTCCCAAAGTGGTGAGATTCCAAGCATGAGCCACTGCCTGCGGCCCACCCCTACTCCCCCACCAGCCACCATATCATCTCCCAAATTCCAAGAGGGCAGATCCAAACATGGGAGTTTAAGGACCTTTTAAAAGAACCTGGAGATGACCTTAGCCGGGCTGCCTCAGATGGCGAAAAATTATCAGGGCGTGGTAAGCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCAGGAGAAGCTGGGCCCTGAGCCAAGGCTCTGCCCTGCAGGACAGCCAGCGGCACCCCTCCCTGCAGCCCCCACGGGCCTGGGGGTCCCCAGTGTGCAGCACCCACAGGTACTGCAAAGGCTGATGCCAGGCCCTGCCTGGGCTCTCACCAGAGACTCACTGGGGAGGAGCTGAGGGCGGAGTCCCCAGACACCCTCTGTGCCAGGTCTTTTCTGACCCCTGCCCTGGGCTCAGGTACTCACAGATGGCGGCGGCGGCCAGGCATTTCACAACGATTTGAGGAGGCTTGCAGCCCACATAGAAGGGCGCACACACATACTCGGAGAAGCTGAGGCAGATGATGGCGAAGGACGTGGGCTTAATGACGATCAGGCTGGCCCAGGAGAAGAGGTAGGCGGGGATGGGCCCGTAGGCCTCCATCAGGTAGGGATACTCTCCCCCTGACTTGGTGATCATTGTGCCAAGCTCCGCAAAGCACAGGGCACCTGGAACACAGAGAGGAAGGGCCCACAGGCCCCTTGTGAGGCACTGCCCCGGCCCCAGGGAGCCTTCCTCCCACCGGAGGCTGCGCTCGTATGGAGGGGCCCACCGTGGTCCGCCCTCGCTGGACGGCCCTGAGCTCCAGCGTTGGACATTCAGTCCAGCCTGATTTACACCTGTTTGCCATACATGTGCCAAGAGGGATACTGGCAGGGTGAGGGCTGGCACAGGTAGCAGCTGCCTGGCGTGCCCCTGCATGCTTCCGGGGCTGCAACAGGCTCCCAAGTCTCTTTACCCAGCGTCGCGAGGACCCCGCAAGCCGCCCATATGATGAGGCAGGGCCCCACAGCTTCCGTGTTGCTGAGCACAGACTTGGGGGAAACGAAGATCCCAGAGCCAGTGATGGTGCCCACGATGATGGAGATGCCACTGATGAGGCCCAGCTGGGTGTGGAGGAAGGAAGAGGGCGTTAGTGCCACGCCCGGACCCAGCCCAGAAGGCCAGGTGCCACCCTCCCTCGGTACGGCCAGGGCGGCCCCAGCCAAAGCCCATGTCCCAGGCGCTTCCACCCTGAGCGGCTGCCCTGGCAACACCGGGGCACCGCTCCCGGAGCTTTGCTTATGTTAACGTGATTAATTATCGTGACAGCCCCGCGAGCTGGCCACACTGTGTCACCCCCATGGACAGAGGAGGACGCTGAGGCACAGAAAGATTAGGAGGCTGTCCGGGGTTTACAGCTAGAGAGGGGGAAACCTGGCTCAGGTTCCACGTGCCTAACCGTGATCCTGTGCCCTCAATGAAAAGGCTGACTTGGCAACAGCTCACCAATAAGAAAGGCCCTCGGGATACGCCTCTGAGCCTAGAGTCCTGGCCAGAGGCTCCATGCAGGGTGAGCAACGGAGGCCTCCCAGAAACAGAAACATTTGGGCACTCTGAACTTTCTGTGGTGCCATTTTCTTTTATCTTATTTTTATTTACTTATTTATTTAGAGTCAGATCTCTCTCTGTCACCCAGGCTGGAGCACAGAGGTGAGATCATGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAACAATCCTCCCAACTCAGCCTCCCAAAGTGCTGGGATTGCAGGCGTAAGCCGCCGTGCCTGGCCCAGTGCCATTTGCTAGGATGGGAGCTTTCTGAGAACAGAACCCAGCTCAAAGAGACACCAGATGGTTCCATGCCTGTGAAGTTCAAGAACAGGTGAAACTAATCCACAGCCACAGGAATTCAGGGCTGGGGCCCTGCCTAGAAAGGGGCACGAGGGAGCTTTCTGGGGTGGTACATCTGTCAAAACTCACCAAACTCAGCACTAAAGAGCTGTACATTTCGACCAGGTGCAGTGGTTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTTGGGAGTGGGAGACCAGCCTGGCCAGCATGGAGAAACCCCGTTTCTACTAAAAAATACAAAAATCAGCCAGGCATTTTGGTGCACACCTGTTCCTAGCTACTTAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCATGAGGCAGAGGTTGCAGTGAGCCACTACAATCACTCCAGCCTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAACCTGCACATTACACTGTATGTAAATTACACACCAATCAAGGAGGAAAAAAAAGTCCAACTCAAGCCCTACTCATAACACTCGTCCTCAGAAGCAGCCCCGGCCAGATCTCCAGAGCCTGAAGTTTCCAGCACCCATGTTCACCTGTCTGGGAAGAAGCTGGGCTTGGAGTCAGATCGCAGGGGATGAGGGGCTCCCAGCTGCAGGCTGCCACCCTGAGGACTCTGCACACACCAGTGGGATCCCTGGGGAGCAGCGTCTGCTTTCAGGGCCAGGGCGCACTTCCAGGACAGGGCGGGGATGGGCTCAGCTCTCCTCCTCATCTCAGCCCTGCCCAGGACTGGCAGTTTGGCTCCAGAATCCTCCCTCCTGCTGAGGGACTGCCTGGGTTCTGATGTGGGTGAGGTCTGCATTCGCCCTGAAGCTGCCTGACTGAGGAGTAGACCCAGCTCAGATTTTTGGTTTTTAGAGTCAGGGTCTCGCTCTGTCACCCAGGCTTGGAGTGCAATGGCGCGATCATGACTCACTGCAGCCTCGATCTCCTGGGCTCAAGGGATCCTCCCACCTCAGCCTCCCAAAGTGCTAAGGTTACAGGCGTGTGCCGCCACACCTGTCCCCAGCTCAGAAGACACATCTTGGGGATTTCTCAGCTGTGCTCTGTGGCCACTGGGGCCCACCAGGGTTCTAAGAGGCCCTTCCTGAGATCAGGCCTGAGACTGGCAGAGAGGGAAAGTGCTGCAGCCCATCGTCTACCTCCTGGGGGTCCCAGGCCAAGCCATTCAGGCCATTGCCAGCCCTCCGGTCAAG 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Task1_train_27006 | This alteration occurs within gene CEBPA (CCAAT enhancer binding protein alpha) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; Acute myeloid leukemia | GGGCTGGGCAGGTGTGGAGGGCTGGATGGAGGGGTCTCTCTCTTCAGGCTGCCTTCGGGCCTCGCAGGGGTAGGGTGTAGCCACATGGTCTAGGGAAAGAGGAGAGGGTTGGAGGGTCCTACCACTGGAGGCCTCTTCCTGCTGGCCGAGGGTCCTGCTGGAATCTGGAGCTGCGGTGTGTGTGAGTGGCCAGGGCTGCAGCTGTAGGTGATTTGCAAGGAAGTCTGCACAAAGGGCTCCTTGAGCCTAGGGCTGCTTAGCCAGGCCTACCCCTCAGGCAGAGGACTCCCTCTCCTCCTCCCCGGGGCAGATAAGAAGCCTCGCCAAGGCCTCAGCCCAGTAACCCCTTCAGCCCCCTCCCCTGACCCCAAGAGACTGCCTTCAGGCTCTGGACATACTCCATTTGGAGCCTTGTCCTCTGCTATTTATTTGTCTTGCCTGGGGGAAGTAAGTCACCCCCTTAGGGTAAGAGGGGCTCAGGATGGATGGAGAGCTCATGAAAGTCAGGATTGCCGCCAGGGAAAATGCTGTATTATTTACAAATGTGACCTGGCCCACAGACAACCTTGGAAGTAGCTTCTTTCTGGTTTTAAAAAGACACCGACATTGACTTTGATATGTTTATATTATAGATATAATACATAAAACATCTAGAGTGAGACTCTACGTTCTCCCCAAAAGAAGAGAACCAAGCCGTCCTTCCCTGCTCCCAGCCCCAGTGATGCGTTGGCGGGAGGCCACCTCCCTTCCCGACCAGGAGCCAGGGCCTCTGGGGGACAAGCCTTGTGGGCAGCCCAGGCCGGAGGGGCTGGGGAAAGCTGAGGGCAAAGGAGAACCCCCCTCACCTCATTGGTCCCCCAGGATCAAAAGTAATCCCAAAACCAAAAGGAAAGGGAGTCTCAGACCCTTCCCCCAGCTGCCGACGGAGAGTCTCATTTTGGCAAGTATCCGAGCAAAACCAAAACAAAACAAAAACCAAATAAAATGGTGGTTTAGCAGAGACGCGCACATTCACATTGCACAAGGCACTGCTGGGGCACAGAGGCCAGATACAAGTGTTGATATCGGCTGATAAAGCAAAATATTTGGAAAGCTTGTCATAACTCCGGTCCCTCTGGGATGGACTGATCGTGCTTCGTGTTCCTAGGCAATGCTGAAGGCATACAGTACAAACAAGGCTGAGGGTCCCAGTGGCCCTTCACCCCCCATGCCCGCCCCACAGCCAGATCTCTAGGTCTCCCTCTCCCACCAGGGGTATACATCCTCAGAGCTGACCCACGACCTAGCTTTCTGGTGTGACTCGGGGTGGGGGCTCCCACTGGTCACCTGGTGACCCCCATCGCAGTGAGTTCCGCCCCAAGGGGAAGCCCAGCCTATAGCAGGCTGGGGTGGGGTGTGTGCGGAGGGAGGTGGGAGAGGCGTGGAACTAGAGACCCTCCACCTTCATGTAGAACTAGGGGAACAACCTTAGGTTCCAAGCCCCAAGTCCCTATGTTTCCACCCCTTTCTAAGGACAGGCGTGGAGGAGCGGCTGGGGCTGGCGGGCTTGTCGGGATCTCAGCTCCCTGAGCCCTCCTCCTGCCACGGGCCTGCTCCCCTCCTTCTCTCATGGGGGTCTGCTGTAGCCTCGGGAAGGAGGCAGGAAACCTCCAAATAAAATGACAAGGCACGATTTGCTCCCCCTACTCAGTAGGCATTGGAGCGGTGAGTTTGCATTTCCAAGGCACAAGGTTATCCTAAATACTAGAGTTGCCGGGCTCCCAGCTCAGCCCCAAGAATTCTCCCCTCCTCGCAGGGAGAAGCCACCGCCTGGCCCCCTCATCTTAGACGCACCAAGTCCGGCGCAGAGGAAGGGAGGGGACACGCGGAGCAGGCCAGGCTTTCAGGAGGCACCGGAATCTCCTAGTCCTGGCTCGCACGGCTCGGGCAAGCCTCGAGATCCGGCGACCCCAAACCACTCCCTGGGTCCCCGCCGGAGGCTGGCCCAGGGCGGTCCCACAGCCGCGCGCCTCACGCGCAGTTGCCCATGGCCTTGACCAAGGAGCTCTCTGGCAGCTGGCGGAAGATGCCCCGCAGCGTGTCCAGTTCGCGGCTCAGCTGTTCCACCCGCTTGCGCAGGCGGTCATTGTCACTGGTCAGCTCCAGCACCTTCTGCTGCGTCTCCACGTTGCGCTGCTTGGCCTTGTCGCGGCTCTTGCGCACCGCGATGTTGTTGCGCTCGCGCCGCACCCGGTACTCGTTGCTGTTCTTGTCCACCGACTTCTTGGCCTTGCCCGCGCCGCTGCCGCCACTCGCGCGGAGGTCGGGGTGCGCGGCGCCCAGCCCCTTGAGCGCGCTGCCAGGGCCCGGCAGGCCGGCGGCACCGAGCGCGGGCGCGGGGTGCGGGCTGGGCACGGGCGTGGGCGGCGGCGTGGGGTGACCGGGCTGCAGGTGCATGGTGGTCTGGCCGCAGTGCGCGATCTGGAACTGCAGGTGCGGGGCGGCCAGGTGCGCGGGCGGCGGGTGCGGGTGCGGGTGCGAGGGCGGCGGCGGCGGCGGCGGCTGGTAAGGGAAGAGGCCGGCCAGCGCCAGCTGCTTGGCTTCATCCTCCTCGCGGGGCTCCTGCTTGATCACCAGCGGCCGCAGCGCCGGCGCCCCGACGCGCTCGTACAGGGGCTCCAGCCTGCCGTCCAGGTAGCCGGCGGCCGCGCAGCCGTAGCCGGGCGGGGGCCCGTGCGCTCCCCCGGGCATGACGGCGCCGCCGGGGCCCGCGGGCGCGCCCGGGTAGTCAAAGTCGCCGCCGCCGCCGCCGCCCGTGGGGCCCACGGCCGCCTTGGCCTTCTCCTGCTGCCGGCTGTGCTGGAACAGGTCGGCCAGGAACTCGTCGTTGAAGGCGGCCGGGTCGATGTAGGCGCTGATGTCGATGGACGTCTCGTGCTCGCAGATGCCGCCCAGCGGCTCCGGGGCGGCAGGTGGGGCGGGAGGCTGCGCGGGGCCCGCGCCCCGGGGAAAGCCGAAGGCGGCGCTGCTGGGCGCGTGCGGGGGGCTCTGCAGGTGGCTGCTCATCGGGGGCCGCGGCTCCGCCTCGTAGAAGTCGGCCGACTCCATGGGGGAGTTAGAGTTCTCCCGGCATGGCGAGCCTCGGCGGCCTCCAGCCTGCGCGGGGCGTCGCCGCCGCCCACCCGGAGACCCTGCTCGCCCGCGCCCGCGCACCTCCGGGTCGCGAATGGCCCGGCCCGCGCCGGCCCAGCTTTTATACCCGGCAGGCCGCGTCGCCCCCTAGAGTCCGAGGCGGCCTCTGTCCCCGGGCTGCGGCGGCGCGGCGCCTGCTGGGTCCTAGCGCGCGGCCGGCATGGGGCGGCGAACCAGCGCGGCACAGCGCCGCGCTCCCCAGGCAGGCCGCGGCGCAACGCCCACCGCCTCCAGCGCGCCCAGCAGAGCCGCGGCGCTCGCTCCAAGCTCCGCCCCCGGCCCGGCCGTCGCCCCCGCGCCCACGTGGTCGGTAGCGGGGGCCCCCTCCTCCTGCCTGCCCTAGGCGCCCGTATCCAGCCACGGCCGGGAGCCCAGGAGTATCCCGAGGCTGCACGGGGTAGGGGTGGGGGGCGGAGGGCGAGTCTTGGTCTTGAGCTGCTGGGGCGCGGATTCTCTTTCAAAGCCAGAACCAGGCCTGTCCCGGACCCGCGTCCCGGGGAGGCTGCAGCGCAGAGCAGCGGGGCTGGGGCCGGTGGGGGGCCGTTTGGGACGCGCGGAGAGGTCCTGAGCGCGGTGGCTCTGCGTCTCCTAGCTCTGATCTCCAGGCTACCCCTGTGATTCCGCGCAGAGGTACCTCTCGGAGGACGCCGGGGTCCCATGGGCGGCGCCGCGCAGGGCGCTAGGACCCCGCGGGGAGCGGAGGCGGCCTCGGCCCGGGAGCCTGGAGGACCTGGCCGGTCGATCCGCCCGGGCTGGAAAACTTTCTTTATAATTACTTCTCCAGGTCGGAGCGCGCGGCTTGCTAGGCGCGCGGGGCCGGCGCTGTTACCCGGCGTGGAGTCGCCGATTTTTTTTCCTGCGGGACCGCGGGGCCCCCCAGACTAGCGGAGCTGGACGCCGGGGCGAGCACGGGGAGGGGCGCACC 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GGGCTGGGCAGGTGTGGAGGGCTGGATGGAGGGGTCTCTCTCTTCAGGCTGCCTTCGGGCCTCGCAGGGGTAGGGTGTAGCCACATGGTCTAGGGAAAGAGGAGAGGGTTGGAGGGTCCTACCACTGGAGGCCTCTTCCTGCTGGCCGAGGGTCCTGCTGGAATCTGGAGCTGCGGTGTGTGTGAGTGGCCAGGGCTGCAGCTGTAGGTGATTTGCAAGGAAGTCTGCACAAAGGGCTCCTTGAGCCTAGGGCTGCTTAGCCAGGCCTACCCCTCAGGCAGAGGACTCCCTCTCCTCCTCCCCGGGGCAGATAAGAAGCCTCGCCAAGGCCTCAGCCCAGTAACCCCTTCAGCCCCCTCCCCTGACCCCAAGAGACTGCCTTCAGGCTCTGGACATACTCCATTTGGAGCCTTGTCCTCTGCTATTTATTTGTCTTGCCTGGGGGAAGTAAGTCACCCCCTTAGGGTAAGAGGGGCTCAGGATGGATGGAGAGCTCATGAAAGTCAGGATTGCCGCCAGGGAAAATGCTGTATTATTTACAAATGTGACCTGGCCCACAGACAACCTTGGAAGTAGCTTCTTTCTGGTTTTAAAAAGACACCGACATTGACTTTGATATGTTTATATTATAGATATAATACATAAAACATCTAGAGTGAGACTCTACGTTCTCCCCAAAAGAAGAGAACCAAGCCGTCCTTCCCTGCTCCCAGCCCCAGTGATGCGTTGGCGGGAGGCCACCTCCCTTCCCGACCAGGAGCCAGGGCCTCTGGGGGACAAGCCTTGTGGGCAGCCCAGGCCGGAGGGGCTGGGGAAAGCTGAGGGCAAAGGAGAACCCCCCTCACCTCATTGGTCCCCCAGGATCAAAAGTAATCCCAAAACCAAAAGGAAAGGGAGTCTCAGACCCTTCCCCCAGCTGCCGACGGAGAGTCTCATTTTGGCAAGTATCCGAGCAAAACCAAAACAAAACAAAAACCAAATAAAATGGTGGTTTAGCAGAGACGCGCACATTCACATTGCACAAGGCACTGCTGGGGCACAGAGGCCAGATACAAGTGTTGATATCGGCTGATAAAGCAAAATATTTGGAAAGCTTGTCATAACTCCGGTCCCTCTGGGATGGACTGATCGTGCTTCGTGTTCCTAGGCAATGCTGAAGGCATACAGTACAAACAAGGCTGAGGGTCCCAGTGGCCCTTCACCCCCCATGCCCGCCCCACAGCCAGATCTCTAGGTCTCCCTCTCCCACCAGGGGTATACATCCTCAGAGCTGACCCACGACCTAGCTTTCTGGTGTGACTCGGGGTGGGGGCTCCCACTGGTCACCTGGTGACCCCCATCGCAGTGAGTTCCGCCCCAAGGGGAAGCCCAGCCTATAGCAGGCTGGGGTGGGGTGTGTGCGGAGGGAGGTGGGAGAGGCGTGGAACTAGAGACCCTCCACCTTCATGTAGAACTAGGGGAACAACCTTAGGTTCCAAGCCCCAAGTCCCTATGTTTCCACCCCTTTCTAAGGACAGGCGTGGAGGAGCGGCTGGGGCTGGCGGGCTTGTCGGGATCTCAGCTCCCTGAGCCCTCCTCCTGCCACGGGCCTGCTCCCCTCCTTCTCTCATGGGGGTCTGCTGTAGCCTCGGGAAGGAGGCAGGAAACCTCCAAATAAAATGACAAGGCACGATTTGCTCCCCCTACTCAGTAGGCATTGGAGCGGTGAGTTTGCATTTCCAAGGCACAAGGTTATCCTAAATACTAGAGTTGCCGGGCTCCCAGCTCAGCCCCAAGAATTCTCCCCTCCTCGCAGGGAGAAGCCACCGCCTGGCCCCCTCATCTTAGACGCACCAAGTCCGGCGCAGAGGAAGGGAGGGGACACGCGGAGCAGGCCAGGCTTTCAGGAGGCACCGGAATCTCCTAGTCCTGGCTCGCACGGCTCGGGCAAGCCTCGAGATCCGGCGACCCCAAACCACTCCCTGGGTCCCCGCCGGAGGCTGGCCCAGGGCGGTCCCACAGCCGCGCGCCTCACGCGCAGTTGCCCATGGCCTTGACCAAGGAGCTCTTTGGCAGCTGGCGGAAGATGCCCCGCAGCGTGTCCAGTTCGCGGCTCAGCTGTTCCACCCGCTTGCGCAGGCGGTCATTGTCACTGGTCAGCTCCAGCACCTTCTGCTGCGTCTCCACGTTGCGCTGCTTGGCCTTGTCGCGGCTCTTGCGCACCGCGATGTTGTTGCGCTCGCGCCGCACCCGGTACTCGTTGCTGTTCTTGTCCACCGACTTCTTGGCCTTGCCCGCGCCGCTGCCGCCACTCGCGCGGAGGTCGGGGTGCGCGGCGCCCAGCCCCTTGAGCGCGCTGCCAGGGCCCGGCAGGCCGGCGGCACCGAGCGCGGGCGCGGGGTGCGGGCTGGGCACGGGCGTGGGCGGCGGCGTGGGGTGACCGGGCTGCAGGTGCATGGTGGTCTGGCCGCAGTGCGCGATCTGGAACTGCAGGTGCGGGGCGGCCAGGTGCGCGGGCGGCGGGTGCGGGTGCGGGTGCGAGGGCGGCGGCGGCGGCGGCGGCTGGTAAGGGAAGAGGCCGGCCAGCGCCAGCTGCTTGGCTTCATCCTCCTCGCGGGGCTCCTGCTTGATCACCAGCGGCCGCAGCGCCGGCGCCCCGACGCGCTCGTACAGGGGCTCCAGCCTGCCGTCCAGGTAGCCGGCGGCCGCGCAGCCGTAGCCGGGCGGGGGCCCGTGCGCTCCCCCGGGCATGACGGCGCCGCCGGGGCCCGCGGGCGCGCCCGGGTAGTCAAAGTCGCCGCCGCCGCCGCCGCCCGTGGGGCCCACGGCCGCCTTGGCCTTCTCCTGCTGCCGGCTGTGCTGGAACAGGTCGGCCAGGAACTCGTCGTTGAAGGCGGCCGGGTCGATGTAGGCGCTGATGTCGATGGACGTCTCGTGCTCGCAGATGCCGCCCAGCGGCTCCGGGGCGGCAGGTGGGGCGGGAGGCTGCGCGGGGCCCGCGCCCCGGGGAAAGCCGAAGGCGGCGCTGCTGGGCGCGTGCGGGGGGCTCTGCAGGTGGCTGCTCATCGGGGGCCGCGGCTCCGCCTCGTAGAAGTCGGCCGACTCCATGGGGGAGTTAGAGTTCTCCCGGCATGGCGAGCCTCGGCGGCCTCCAGCCTGCGCGGGGCGTCGCCGCCGCCCACCCGGAGACCCTGCTCGCCCGCGCCCGCGCACCTCCGGGTCGCGAATGGCCCGGCCCGCGCCGGCCCAGCTTTTATACCCGGCAGGCCGCGTCGCCCCCTAGAGTCCGAGGCGGCCTCTGTCCCCGGGCTGCGGCGGCGCGGCGCCTGCTGGGTCCTAGCGCGCGGCCGGCATGGGGCGGCGAACCAGCGCGGCACAGCGCCGCGCTCCCCAGGCAGGCCGCGGCGCAACGCCCACCGCCTCCAGCGCGCCCAGCAGAGCCGCGGCGCTCGCTCCAAGCTCCGCCCCCGGCCCGGCCGTCGCCCCCGCGCCCACGTGGTCGGTAGCGGGGGCCCCCTCCTCCTGCCTGCCCTAGGCGCCCGTATCCAGCCACGGCCGGGAGCCCAGGAGTATCCCGAGGCTGCACGGGGTAGGGGTGGGGGGCGGAGGGCGAGTCTTGGTCTTGAGCTGCTGGGGCGCGGATTCTCTTTCAAAGCCAGAACCAGGCCTGTCCCGGACCCGCGTCCCGGGGAGGCTGCAGCGCAGAGCAGCGGGGCTGGGGCCGGTGGGGGGCCGTTTGGGACGCGCGGAGAGGTCCTGAGCGCGGTGGCTCTGCGTCTCCTAGCTCTGATCTCCAGGCTACCCCTGTGATTCCGCGCAGAGGTACCTCTCGGAGGACGCCGGGGTCCCATGGGCGGCGCCGCGCAGGGCGCTAGGACCCCGCGGGGAGCGGAGGCGGCCTCGGCCCGGGAGCCTGGAGGACCTGGCCGGTCGATCCGCCCGGGCTGGAAAACTTTCTTTATAATTACTTCTCCAGGTCGGAGCGCGCGGCTTGCTAGGCGCGCGGGGCCGGCGCTGTTACCCGGCGTGGAGTCGCCGATTTTTTTTCCTGCGGGACCGCGGGGCCCCCCAGACTAGCGGAGCTGGACGCCGGGGCGAGCACGGGGAGGGGCGCACC 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Task1_train_27007 | An alteration has been detected in CEBPA (CCAAT enhancer binding protein alpha) on Chromosome 19. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Acute myeloid leukemia | GTTGGCGGGAGGCCACCTCCCTTCCCGACCAGGAGCCAGGGCCTCTGGGGGACAAGCCTTGTGGGCAGCCCAGGCCGGAGGGGCTGGGGAAAGCTGAGGGCAAAGGAGAACCCCCCTCACCTCATTGGTCCCCCAGGATCAAAAGTAATCCCAAAACCAAAAGGAAAGGGAGTCTCAGACCCTTCCCCCAGCTGCCGACGGAGAGTCTCATTTTGGCAAGTATCCGAGCAAAACCAAAACAAAACAAAAACCAAATAAAATGGTGGTTTAGCAGAGACGCGCACATTCACATTGCACAAGGCACTGCTGGGGCACAGAGGCCAGATACAAGTGTTGATATCGGCTGATAAAGCAAAATATTTGGAAAGCTTGTCATAACTCCGGTCCCTCTGGGATGGACTGATCGTGCTTCGTGTTCCTAGGCAATGCTGAAGGCATACAGTACAAACAAGGCTGAGGGTCCCAGTGGCCCTTCACCCCCCATGCCCGCCCCACAGCCAGATCTCTAGGTCTCCCTCTCCCACCAGGGGTATACATCCTCAGAGCTGACCCACGACCTAGCTTTCTGGTGTGACTCGGGGTGGGGGCTCCCACTGGTCACCTGGTGACCCCCATCGCAGTGAGTTCCGCCCCAAGGGGAAGCCCAGCCTATAGCAGGCTGGGGTGGGGTGTGTGCGGAGGGAGGTGGGAGAGGCGTGGAACTAGAGACCCTCCACCTTCATGTAGAACTAGGGGAACAACCTTAGGTTCCAAGCCCCAAGTCCCTATGTTTCCACCCCTTTCTAAGGACAGGCGTGGAGGAGCGGCTGGGGCTGGCGGGCTTGTCGGGATCTCAGCTCCCTGAGCCCTCCTCCTGCCACGGGCCTGCTCCCCTCCTTCTCTCATGGGGGTCTGCTGTAGCCTCGGGAAGGAGGCAGGAAACCTCCAAATAAAATGACAAGGCACGATTTGCTCCCCCTACTCAGTAGGCATTGGAGCGGTGAGTTTGCATTTCCAAGGCACAAGGTTATCCTAAATACTAGAGTTGCCGGGCTCCCAGCTCAGCCCCAAGAATTCTCCCCTCCTCGCAGGGAGAAGCCACCGCCTGGCCCCCTCATCTTAGACGCACCAAGTCCGGCGCAGAGGAAGGGAGGGGACACGCGGAGCAGGCCAGGCTTTCAGGAGGCACCGGAATCTCCTAGTCCTGGCTCGCACGGCTCGGGCAAGCCTCGAGATCCGGCGACCCCAAACCACTCCCTGGGTCCCCGCCGGAGGCTGGCCCAGGGCGGTCCCACAGCCGCGCGCCTCACGCGCAGTTGCCCATGGCCTTGACCAAGGAGCTCTCTGGCAGCTGGCGGAAGATGCCCCGCAGCGTGTCCAGTTCGCGGCTCAGCTGTTCCACCCGCTTGCGCAGGCGGTCATTGTCACTGGTCAGCTCCAGCACCTTCTGCTGCGTCTCCACGTTGCGCTGCTTGGCCTTGTCGCGGCTCTTGCGCACCGCGATGTTGTTGCGCTCGCGCCGCACCCGGTACTCGTTGCTGTTCTTGTCCACCGACTTCTTGGCCTTGCCCGCGCCGCTGCCGCCACTCGCGCGGAGGTCGGGGTGCGCGGCGCCCAGCCCCTTGAGCGCGCTGCCAGGGCCCGGCAGGCCGGCGGCACCGAGCGCGGGCGCGGGGTGCGGGCTGGGCACGGGCGTGGGCGGCGGCGTGGGGTGACCGGGCTGCAGGTGCATGGTGGTCTGGCCGCAGTGCGCGATCTGGAACTGCAGGTGCGGGGCGGCCAGGTGCGCGGGCGGCGGGTGCGGGTGCGGGTGCGAGGGCGGCGGCGGCGGCGGCGGCTGGTAAGGGAAGAGGCCGGCCAGCGCCAGCTGCTTGGCTTCATCCTCCTCGCGGGGCTCCTGCTTGATCACCAGCGGCCGCAGCGCCGGCGCCCCGACGCGCTCGTACAGGGGCTCCAGCCTGCCGTCCAGGTAGCCGGCGGCCGCGCAGCCGTAGCCGGGCGGGGGCCCGTGCGCTCCCCCGGGCATGACGGCGCCGCCGGGGCCCGCGGGCGCGCCCGGGTAGTCAAAGTCGCCGCCGCCGCCGCCGCCCGTGGGGCCCACGGCCGCCTTGGCCTTCTCCTGCTGCCGGCTGTGCTGGAACAGGTCGGCCAGGAACTCGTCGTTGAAGGCGGCCGGGTCGATGTAGGCGCTGATGTCGATGGACGTCTCGTGCTCGCAGATGCCGCCCAGCGGCTCCGGGGCGGCAGGTGGGGCGGGAGGCTGCGCGGGGCCCGCGCCCCGGGGAAAGCCGAAGGCGGCGCTGCTGGGCGCGTGCGGGGGGCTCTGCAGGTGGCTGCTCATCGGGGGCCGCGGCTCCGCCTCGTAGAAGTCGGCCGACTCCATGGGGGAGTTAGAGTTCTCCCGGCATGGCGAGCCTCGGCGGCCTCCAGCCTGCGCGGGGCGTCGCCGCCGCCCACCCGGAGACCCTGCTCGCCCGCGCCCGCGCACCTCCGGGTCGCGAATGGCCCGGCCCGCGCCGGCCCAGCTTTTATACCCGGCAGGCCGCGTCGCCCCCTAGAGTCCGAGGCGGCCTCTGTCCCCGGGCTGCGGCGGCGCGGCGCCTGCTGGGTCCTAGCGCGCGGCCGGCATGGGGCGGCGAACCAGCGCGGCACAGCGCCGCGCTCCCCAGGCAGGCCGCGGCGCAACGCCCACCGCCTCCAGCGCGCCCAGCAGAGCCGCGGCGCTCGCTCCAAGCTCCGCCCCCGGCCCGGCCGTCGCCCCCGCGCCCACGTGGTCGGTAGCGGGGGCCCCCTCCTCCTGCCTGCCCTAGGCGCCCGTATCCAGCCACGGCCGGGAGCCCAGGAGTATCCCGAGGCTGCACGGGGTAGGGGTGGGGGGCGGAGGGCGAGTCTTGGTCTTGAGCTGCTGGGGCGCGGATTCTCTTTCAAAGCCAGAACCAGGCCTGTCCCGGACCCGCGTCCCGGGGAGGCTGCAGCGCAGAGCAGCGGGGCTGGGGCCGGTGGGGGGCCGTTTGGGACGCGCGGAGAGGTCCTGAGCGCGGTGGCTCTGCGTCTCCTAGCTCTGATCTCCAGGCTACCCCTGTGATTCCGCGCAGAGGTACCTCTCGGAGGACGCCGGGGTCCCATGGGCGGCGCCGCGCAGGGCGCTAGGACCCCGCGGGGAGCGGAGGCGGCCTCGGCCCGGGAGCCTGGAGGACCTGGCCGGTCGATCCGCCCGGGCTGGAAAACTTTCTTTATAATTACTTCTCCAGGTCGGAGCGCGCGGCTTGCTAGGCGCGCGGGGCCGGCGCTGTTACCCGGCGTGGAGTCGCCGATTTTTTTTCCTGCGGGACCGCGGGGCCCCCCAGACTAGCGGAGCTGGACGCCGGGGCGAGCACGGGGAGGGGCGCACCGAGGGAGGAGACAAACTTAACTCTGGGGCCGGGATTCCGAGGCGGGGGCCGCAGCCCTCGAGGCCCGAAGCCACCGCTTCCTCCCCCGCCTCCCCATTCAGGTGGGCGCCAACGGCGGGAGCGAGGGTGTCCAGGCCGCCGGGCTGCCAGGTCCGAGCACGCACAGGGAGAACTCTGCCCAGTGGTTCGCCGGGCGCTGTAGTCCCCGGGATCCTAGGGACCGAGGCGGCCAGGCCCTGGGGCCCCTTGAGTGCGGCAGCTAATGCTCTCACCGCGGCGGGGGAAGGAGCTTGCCACCGAGACCCCCAGCCACGTGCGTCCCTCGCATTCTTTACCGGGGCCGGGGTGGCGGCTACGGACCGTCAGCTGGGCCCAGATGGAGTCTTGGGAGCCCTCAAGTGTCTCCTGTCCTTGCCCGCGCCGCCCCTCGCCACTGGCGCTGAGGCCTGACGCCGCCTGCGTCCCGGCTAGAGGCGCGCTTGCCTACAGGTGAGGGAAGACCCCCTTCACCGACAGTGGCCTTAGGCCTGGCAAGGCGCCACGACCCGCCCAGGAGCCCCGGAGGGGGCACAGCTAAAAACACCGCTGGAGAGCCCCGAGCTTCCACGACGATCGCAGTAAAGAAGCAGTTTCATCTGGGCAACGCACACTGCGCTTTAATCAAGTTCCTATTCAACATAGTCCCAGTGATTAATAGCCCAACTGCTTCGTTTTCGGTCCAGAGC 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GTTGGCGGGAGGCCACCTCCCTTCCCGACCAGGAGCCAGGGCCTCTGGGGGACAAGCCTTGTGGGCAGCCCAGGCCGGAGGGGCTGGGGAAAGCTGAGGGCAAAGGAGAACCCCCCTCACCTCATTGGTCCCCCAGGATCAAAAGTAATCCCAAAACCAAAAGGAAAGGGAGTCTCAGACCCTTCCCCCAGCTGCCGACGGAGAGTCTCATTTTGGCAAGTATCCGAGCAAAACCAAAACAAAACAAAAACCAAATAAAATGGTGGTTTAGCAGAGACGCGCACATTCACATTGCACAAGGCACTGCTGGGGCACAGAGGCCAGATACAAGTGTTGATATCGGCTGATAAAGCAAAATATTTGGAAAGCTTGTCATAACTCCGGTCCCTCTGGGATGGACTGATCGTGCTTCGTGTTCCTAGGCAATGCTGAAGGCATACAGTACAAACAAGGCTGAGGGTCCCAGTGGCCCTTCACCCCCCATGCCCGCCCCACAGCCAGATCTCTAGGTCTCCCTCTCCCACCAGGGGTATACATCCTCAGAGCTGACCCACGACCTAGCTTTCTGGTGTGACTCGGGGTGGGGGCTCCCACTGGTCACCTGGTGACCCCCATCGCAGTGAGTTCCGCCCCAAGGGGAAGCCCAGCCTATAGCAGGCTGGGGTGGGGTGTGTGCGGAGGGAGGTGGGAGAGGCGTGGAACTAGAGACCCTCCACCTTCATGTAGAACTAGGGGAACAACCTTAGGTTCCAAGCCCCAAGTCCCTATGTTTCCACCCCTTTCTAAGGACAGGCGTGGAGGAGCGGCTGGGGCTGGCGGGCTTGTCGGGATCTCAGCTCCCTGAGCCCTCCTCCTGCCACGGGCCTGCTCCCCTCCTTCTCTCATGGGGGTCTGCTGTAGCCTCGGGAAGGAGGCAGGAAACCTCCAAATAAAATGACAAGGCACGATTTGCTCCCCCTACTCAGTAGGCATTGGAGCGGTGAGTTTGCATTTCCAAGGCACAAGGTTATCCTAAATACTAGAGTTGCCGGGCTCCCAGCTCAGCCCCAAGAATTCTCCCCTCCTCGCAGGGAGAAGCCACCGCCTGGCCCCCTCATCTTAGACGCACCAAGTCCGGCGCAGAGGAAGGGAGGGGACACGCGGAGCAGGCCAGGCTTTCAGGAGGCACCGGAATCTCCTAGTCCTGGCTCGCACGGCTCGGGCAAGCCTCGAGATCCGGCGACCCCAAACCACTCCCTGGGTCCCCGCCGGAGGCTGGCCCAGGGCGGTCCCACAGCCGCGCGCCTCACGCGCAGTTGCCCATGGCCTTGACCAAGGAGCTCTCTGGCAGCTGGCGGAAGATGCCCCGCAGCGTGTCCAGTTCGCGGCTCAGCTGTTCCACCCGCTTGCGCAGGCGGTCATTGTCACTGGTCAGCTCCAGCACCTTCTGCTGCGTCTCCACGTTGCGCTGCTTGGCCTTGTCGCGGCTCTTGCGCACCGCGATGTTGTTGCGCTCGCGCCGCACCCGGTACTCGTTGCTGTTCTTGTCCACCGACTTCTTGGCCTTGCCCGCGCCGCTGCCGCCACTCGCGCGGAGGTCGGGGTGCGCGGCGCCCAGCCCCTTGAGCGCGCTGCCAGGGCCCGGCAGGCCGGCGGCACCGAGCGCGGGCGCGGGGTGCGGGCTGGGCACGGGCGTGGGCGGCGGCGTGGGGTGACCGGGCTGCAGGTGCATGGTGGTCTGGCCGCAGTGCGCGATCTGGAACTGCAGGTGCGGGGCGGCCAGGTGCGCGGGCGGCGGGTGCGGGTGCGGGTGCGAGGGCGGCGGCGGCGGCGGCGGCTGGTAAGGGAAGAGGCCGGCCAGCGCCAGCTGCTTGGCTTCATCCTCCTCGCGGGGCTCCTGCTTGATCACCAGCGGCCGCAGCGCCGGCGCCCCGACGCGCTCGTACAGGGGCTCCAGCCTGCCGTCCAGGTAGCCGGCGGCCGCGCAGCCGTAGCCGGGCGGGGGCCCGTGCGCTCCCCCGGGCATGACGGCGCCGCCGGGGCCCGCGGGCGCGCCCGGGTAGTCAAAGACGCCGCCGCCGCCGCCGCCCGTGGGGCCCACGGCCGCCTTGGCCTTCTCCTGCTGCCGGCTGTGCTGGAACAGGTCGGCCAGGAACTCGTCGTTGAAGGCGGCCGGGTCGATGTAGGCGCTGATGTCGATGGACGTCTCGTGCTCGCAGATGCCGCCCAGCGGCTCCGGGGCGGCAGGTGGGGCGGGAGGCTGCGCGGGGCCCGCGCCCCGGGGAAAGCCGAAGGCGGCGCTGCTGGGCGCGTGCGGGGGGCTCTGCAGGTGGCTGCTCATCGGGGGCCGCGGCTCCGCCTCGTAGAAGTCGGCCGACTCCATGGGGGAGTTAGAGTTCTCCCGGCATGGCGAGCCTCGGCGGCCTCCAGCCTGCGCGGGGCGTCGCCGCCGCCCACCCGGAGACCCTGCTCGCCCGCGCCCGCGCACCTCCGGGTCGCGAATGGCCCGGCCCGCGCCGGCCCAGCTTTTATACCCGGCAGGCCGCGTCGCCCCCTAGAGTCCGAGGCGGCCTCTGTCCCCGGGCTGCGGCGGCGCGGCGCCTGCTGGGTCCTAGCGCGCGGCCGGCATGGGGCGGCGAACCAGCGCGGCACAGCGCCGCGCTCCCCAGGCAGGCCGCGGCGCAACGCCCACCGCCTCCAGCGCGCCCAGCAGAGCCGCGGCGCTCGCTCCAAGCTCCGCCCCCGGCCCGGCCGTCGCCCCCGCGCCCACGTGGTCGGTAGCGGGGGCCCCCTCCTCCTGCCTGCCCTAGGCGCCCGTATCCAGCCACGGCCGGGAGCCCAGGAGTATCCCGAGGCTGCACGGGGTAGGGGTGGGGGGCGGAGGGCGAGTCTTGGTCTTGAGCTGCTGGGGCGCGGATTCTCTTTCAAAGCCAGAACCAGGCCTGTCCCGGACCCGCGTCCCGGGGAGGCTGCAGCGCAGAGCAGCGGGGCTGGGGCCGGTGGGGGGCCGTTTGGGACGCGCGGAGAGGTCCTGAGCGCGGTGGCTCTGCGTCTCCTAGCTCTGATCTCCAGGCTACCCCTGTGATTCCGCGCAGAGGTACCTCTCGGAGGACGCCGGGGTCCCATGGGCGGCGCCGCGCAGGGCGCTAGGACCCCGCGGGGAGCGGAGGCGGCCTCGGCCCGGGAGCCTGGAGGACCTGGCCGGTCGATCCGCCCGGGCTGGAAAACTTTCTTTATAATTACTTCTCCAGGTCGGAGCGCGCGGCTTGCTAGGCGCGCGGGGCCGGCGCTGTTACCCGGCGTGGAGTCGCCGATTTTTTTTCCTGCGGGACCGCGGGGCCCCCCAGACTAGCGGAGCTGGACGCCGGGGCGAGCACGGGGAGGGGCGCACCGAGGGAGGAGACAAACTTAACTCTGGGGCCGGGATTCCGAGGCGGGGGCCGCAGCCCTCGAGGCCCGAAGCCACCGCTTCCTCCCCCGCCTCCCCATTCAGGTGGGCGCCAACGGCGGGAGCGAGGGTGTCCAGGCCGCCGGGCTGCCAGGTCCGAGCACGCACAGGGAGAACTCTGCCCAGTGGTTCGCCGGGCGCTGTAGTCCCCGGGATCCTAGGGACCGAGGCGGCCAGGCCCTGGGGCCCCTTGAGTGCGGCAGCTAATGCTCTCACCGCGGCGGGGGAAGGAGCTTGCCACCGAGACCCCCAGCCACGTGCGTCCCTCGCATTCTTTACCGGGGCCGGGGTGGCGGCTACGGACCGTCAGCTGGGCCCAGATGGAGTCTTGGGAGCCCTCAAGTGTCTCCTGTCCTTGCCCGCGCCGCCCCTCGCCACTGGCGCTGAGGCCTGACGCCGCCTGCGTCCCGGCTAGAGGCGCGCTTGCCTACAGGTGAGGGAAGACCCCCTTCACCGACAGTGGCCTTAGGCCTGGCAAGGCGCCACGACCCGCCCAGGAGCCCCGGAGGGGGCACAGCTAAAAACACCGCTGGAGAGCCCCGAGCTTCCACGACGATCGCAGTAAAGAAGCAGTTTCATCTGGGCAACGCACACTGCGCTTTAATCAAGTTCCTATTCAACATAGTCCCAGTGATTAATAGCCCAACTGCTTCGTTTTCGGTCCAGAGC 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Task1_train_27008 | This gene mutation involves CEBPA (CCAAT enhancer binding protein alpha) on Chromosome 19. Is it associated with any clinical condition, or is it benign? | Pathogenic; Acute myeloid leukemia | GGCAGCCCAGGCCGGAGGGGCTGGGGAAAGCTGAGGGCAAAGGAGAACCCCCCTCACCTCATTGGTCCCCCAGGATCAAAAGTAATCCCAAAACCAAAAGGAAAGGGAGTCTCAGACCCTTCCCCCAGCTGCCGACGGAGAGTCTCATTTTGGCAAGTATCCGAGCAAAACCAAAACAAAACAAAAACCAAATAAAATGGTGGTTTAGCAGAGACGCGCACATTCACATTGCACAAGGCACTGCTGGGGCACAGAGGCCAGATACAAGTGTTGATATCGGCTGATAAAGCAAAATATTTGGAAAGCTTGTCATAACTCCGGTCCCTCTGGGATGGACTGATCGTGCTTCGTGTTCCTAGGCAATGCTGAAGGCATACAGTACAAACAAGGCTGAGGGTCCCAGTGGCCCTTCACCCCCCATGCCCGCCCCACAGCCAGATCTCTAGGTCTCCCTCTCCCACCAGGGGTATACATCCTCAGAGCTGACCCACGACCTAGCTTTCTGGTGTGACTCGGGGTGGGGGCTCCCACTGGTCACCTGGTGACCCCCATCGCAGTGAGTTCCGCCCCAAGGGGAAGCCCAGCCTATAGCAGGCTGGGGTGGGGTGTGTGCGGAGGGAGGTGGGAGAGGCGTGGAACTAGAGACCCTCCACCTTCATGTAGAACTAGGGGAACAACCTTAGGTTCCAAGCCCCAAGTCCCTATGTTTCCACCCCTTTCTAAGGACAGGCGTGGAGGAGCGGCTGGGGCTGGCGGGCTTGTCGGGATCTCAGCTCCCTGAGCCCTCCTCCTGCCACGGGCCTGCTCCCCTCCTTCTCTCATGGGGGTCTGCTGTAGCCTCGGGAAGGAGGCAGGAAACCTCCAAATAAAATGACAAGGCACGATTTGCTCCCCCTACTCAGTAGGCATTGGAGCGGTGAGTTTGCATTTCCAAGGCACAAGGTTATCCTAAATACTAGAGTTGCCGGGCTCCCAGCTCAGCCCCAAGAATTCTCCCCTCCTCGCAGGGAGAAGCCACCGCCTGGCCCCCTCATCTTAGACGCACCAAGTCCGGCGCAGAGGAAGGGAGGGGACACGCGGAGCAGGCCAGGCTTTCAGGAGGCACCGGAATCTCCTAGTCCTGGCTCGCACGGCTCGGGCAAGCCTCGAGATCCGGCGACCCCAAACCACTCCCTGGGTCCCCGCCGGAGGCTGGCCCAGGGCGGTCCCACAGCCGCGCGCCTCACGCGCAGTTGCCCATGGCCTTGACCAAGGAGCTCTCTGGCAGCTGGCGGAAGATGCCCCGCAGCGTGTCCAGTTCGCGGCTCAGCTGTTCCACCCGCTTGCGCAGGCGGTCATTGTCACTGGTCAGCTCCAGCACCTTCTGCTGCGTCTCCACGTTGCGCTGCTTGGCCTTGTCGCGGCTCTTGCGCACCGCGATGTTGTTGCGCTCGCGCCGCACCCGGTACTCGTTGCTGTTCTTGTCCACCGACTTCTTGGCCTTGCCCGCGCCGCTGCCGCCACTCGCGCGGAGGTCGGGGTGCGCGGCGCCCAGCCCCTTGAGCGCGCTGCCAGGGCCCGGCAGGCCGGCGGCACCGAGCGCGGGCGCGGGGTGCGGGCTGGGCACGGGCGTGGGCGGCGGCGTGGGGTGACCGGGCTGCAGGTGCATGGTGGTCTGGCCGCAGTGCGCGATCTGGAACTGCAGGTGCGGGGCGGCCAGGTGCGCGGGCGGCGGGTGCGGGTGCGGGTGCGAGGGCGGCGGCGGCGGCGGCGGCTGGTAAGGGAAGAGGCCGGCCAGCGCCAGCTGCTTGGCTTCATCCTCCTCGCGGGGCTCCTGCTTGATCACCAGCGGCCGCAGCGCCGGCGCCCCGACGCGCTCGTACAGGGGCTCCAGCCTGCCGTCCAGGTAGCCGGCGGCCGCGCAGCCGTAGCCGGGCGGGGGCCCGTGCGCTCCCCCGGGCATGACGGCGCCGCCGGGGCCCGCGGGCGCGCCCGGGTAGTCAAAGTCGCCGCCGCCGCCGCCGCCCGTGGGGCCCACGGCCGCCTTGGCCTTCTCCTGCTGCCGGCTGTGCTGGAACAGGTCGGCCAGGAACTCGTCGTTGAAGGCGGCCGGGTCGATGTAGGCGCTGATGTCGATGGACGTCTCGTGCTCGCAGATGCCGCCCAGCGGCTCCGGGGCGGCAGGTGGGGCGGGAGGCTGCGCGGGGCCCGCGCCCCGGGGAAAGCCGAAGGCGGCGCTGCTGGGCGCGTGCGGGGGGCTCTGCAGGTGGCTGCTCATCGGGGGCCGCGGCTCCGCCTCGTAGAAGTCGGCCGACTCCATGGGGGAGTTAGAGTTCTCCCGGCATGGCGAGCCTCGGCGGCCTCCAGCCTGCGCGGGGCGTCGCCGCCGCCCACCCGGAGACCCTGCTCGCCCGCGCCCGCGCACCTCCGGGTCGCGAATGGCCCGGCCCGCGCCGGCCCAGCTTTTATACCCGGCAGGCCGCGTCGCCCCCTAGAGTCCGAGGCGGCCTCTGTCCCCGGGCTGCGGCGGCGCGGCGCCTGCTGGGTCCTAGCGCGCGGCCGGCATGGGGCGGCGAACCAGCGCGGCACAGCGCCGCGCTCCCCAGGCAGGCCGCGGCGCAACGCCCACCGCCTCCAGCGCGCCCAGCAGAGCCGCGGCGCTCGCTCCAAGCTCCGCCCCCGGCCCGGCCGTCGCCCCCGCGCCCACGTGGTCGGTAGCGGGGGCCCCCTCCTCCTGCCTGCCCTAGGCGCCCGTATCCAGCCACGGCCGGGAGCCCAGGAGTATCCCGAGGCTGCACGGGGTAGGGGTGGGGGGCGGAGGGCGAGTCTTGGTCTTGAGCTGCTGGGGCGCGGATTCTCTTTCAAAGCCAGAACCAGGCCTGTCCCGGACCCGCGTCCCGGGGAGGCTGCAGCGCAGAGCAGCGGGGCTGGGGCCGGTGGGGGGCCGTTTGGGACGCGCGGAGAGGTCCTGAGCGCGGTGGCTCTGCGTCTCCTAGCTCTGATCTCCAGGCTACCCCTGTGATTCCGCGCAGAGGTACCTCTCGGAGGACGCCGGGGTCCCATGGGCGGCGCCGCGCAGGGCGCTAGGACCCCGCGGGGAGCGGAGGCGGCCTCGGCCCGGGAGCCTGGAGGACCTGGCCGGTCGATCCGCCCGGGCTGGAAAACTTTCTTTATAATTACTTCTCCAGGTCGGAGCGCGCGGCTTGCTAGGCGCGCGGGGCCGGCGCTGTTACCCGGCGTGGAGTCGCCGATTTTTTTTCCTGCGGGACCGCGGGGCCCCCCAGACTAGCGGAGCTGGACGCCGGGGCGAGCACGGGGAGGGGCGCACCGAGGGAGGAGACAAACTTAACTCTGGGGCCGGGATTCCGAGGCGGGGGCCGCAGCCCTCGAGGCCCGAAGCCACCGCTTCCTCCCCCGCCTCCCCATTCAGGTGGGCGCCAACGGCGGGAGCGAGGGTGTCCAGGCCGCCGGGCTGCCAGGTCCGAGCACGCACAGGGAGAACTCTGCCCAGTGGTTCGCCGGGCGCTGTAGTCCCCGGGATCCTAGGGACCGAGGCGGCCAGGCCCTGGGGCCCCTTGAGTGCGGCAGCTAATGCTCTCACCGCGGCGGGGGAAGGAGCTTGCCACCGAGACCCCCAGCCACGTGCGTCCCTCGCATTCTTTACCGGGGCCGGGGTGGCGGCTACGGACCGTCAGCTGGGCCCAGATGGAGTCTTGGGAGCCCTCAAGTGTCTCCTGTCCTTGCCCGCGCCGCCCCTCGCCACTGGCGCTGAGGCCTGACGCCGCCTGCGTCCCGGCTAGAGGCGCGCTTGCCTACAGGTGAGGGAAGACCCCCTTCACCGACAGTGGCCTTAGGCCTGGCAAGGCGCCACGACCCGCCCAGGAGCCCCGGAGGGGGCACAGCTAAAAACACCGCTGGAGAGCCCCGAGCTTCCACGACGATCGCAGTAAAGAAGCAGTTTCATCTGGGCAACGCACACTGCGCTTTAATCAAGTTCCTATTCAACATAGTCCCAGTGATTAATAGCCCAACTGCTTCGTTTTCGGTCCAGAGCTCATAAACAAGATATTTTTAGCTTGACGCTTTTGGACGGGAGGGAGTAAAAACCAGATACGTT 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GGCAGCCCAGGCCGGAGGGGCTGGGGAAAGCTGAGGGCAAAGGAGAACCCCCCTCACCTCATTGGTCCCCCAGGATCAAAAGTAATCCCAAAACCAAAAGGAAAGGGAGTCTCAGACCCTTCCCCCAGCTGCCGACGGAGAGTCTCATTTTGGCAAGTATCCGAGCAAAACCAAAACAAAACAAAAACCAAATAAAATGGTGGTTTAGCAGAGACGCGCACATTCACATTGCACAAGGCACTGCTGGGGCACAGAGGCCAGATACAAGTGTTGATATCGGCTGATAAAGCAAAATATTTGGAAAGCTTGTCATAACTCCGGTCCCTCTGGGATGGACTGATCGTGCTTCGTGTTCCTAGGCAATGCTGAAGGCATACAGTACAAACAAGGCTGAGGGTCCCAGTGGCCCTTCACCCCCCATGCCCGCCCCACAGCCAGATCTCTAGGTCTCCCTCTCCCACCAGGGGTATACATCCTCAGAGCTGACCCACGACCTAGCTTTCTGGTGTGACTCGGGGTGGGGGCTCCCACTGGTCACCTGGTGACCCCCATCGCAGTGAGTTCCGCCCCAAGGGGAAGCCCAGCCTATAGCAGGCTGGGGTGGGGTGTGTGCGGAGGGAGGTGGGAGAGGCGTGGAACTAGAGACCCTCCACCTTCATGTAGAACTAGGGGAACAACCTTAGGTTCCAAGCCCCAAGTCCCTATGTTTCCACCCCTTTCTAAGGACAGGCGTGGAGGAGCGGCTGGGGCTGGCGGGCTTGTCGGGATCTCAGCTCCCTGAGCCCTCCTCCTGCCACGGGCCTGCTCCCCTCCTTCTCTCATGGGGGTCTGCTGTAGCCTCGGGAAGGAGGCAGGAAACCTCCAAATAAAATGACAAGGCACGATTTGCTCCCCCTACTCAGTAGGCATTGGAGCGGTGAGTTTGCATTTCCAAGGCACAAGGTTATCCTAAATACTAGAGTTGCCGGGCTCCCAGCTCAGCCCCAAGAATTCTCCCCTCCTCGCAGGGAGAAGCCACCGCCTGGCCCCCTCATCTTAGACGCACCAAGTCCGGCGCAGAGGAAGGGAGGGGACACGCGGAGCAGGCCAGGCTTTCAGGAGGCACCGGAATCTCCTAGTCCTGGCTCGCACGGCTCGGGCAAGCCTCGAGATCCGGCGACCCCAAACCACTCCCTGGGTCCCCGCCGGAGGCTGGCCCAGGGCGGTCCCACAGCCGCGCGCCTCACGCGCAGTTGCCCATGGCCTTGACCAAGGAGCTCTCTGGCAGCTGGCGGAAGATGCCCCGCAGCGTGTCCAGTTCGCGGCTCAGCTGTTCCACCCGCTTGCGCAGGCGGTCATTGTCACTGGTCAGCTCCAGCACCTTCTGCTGCGTCTCCACGTTGCGCTGCTTGGCCTTGTCGCGGCTCTTGCGCACCGCGATGTTGTTGCGCTCGCGCCGCACCCGGTACTCGTTGCTGTTCTTGTCCACCGACTTCTTGGCCTTGCCCGCGCCGCTGCCGCCACTCGCGCGGAGGTCGGGGTGCGCGGCGCCCAGCCCCTTGAGCGCGCTGCCAGGGCCCGGCAGGCCGGCGGCACCGAGCGCGGGCGCGGGGTGCGGGCTGGGCACGGGCGTGGGCGGCGGCGTGGGGTGACCGGGCTGCAGGTGCATGGTGGTCTGGCCGCAGTGCGCGATCTGGAACTGCAGGTGCGGGGCGGCCAGGTGCGCGGGCGGCGGGTGCGGGTGCGGGTGCGAGGGCGGCGGCGGCGGCGGCGGCTGGTAAGGGAAGAGGCCGGCCAGCGCCAGCTGCTTGGCTTCATCCTCCTCGCGGGGCTCCTGCTTGATCACCAGCGGCCGCAGCGCCGGCGCCCCGACGCGCTCGTACAGGGGCTCCAGCCTGCCGTCCAGGTAGCCGGCGGCCGCGCAGCCGTAGCCGGGCGGGGGCCCGTGCGCTCCCCCGGGCATGACGGCGCCGCCGGGGCCCGCGGGCGCGCCCGGGTAGTCAAAGTCGCCGCCGCCGCCGCCGCCCGTGGGGCCCACGGCCGCCTTGGCCTTCTCCTGCTGCCGGCTGAGCTGGAACAGGTCGGCCAGGAACTCGTCGTTGAAGGCGGCCGGGTCGATGTAGGCGCTGATGTCGATGGACGTCTCGTGCTCGCAGATGCCGCCCAGCGGCTCCGGGGCGGCAGGTGGGGCGGGAGGCTGCGCGGGGCCCGCGCCCCGGGGAAAGCCGAAGGCGGCGCTGCTGGGCGCGTGCGGGGGGCTCTGCAGGTGGCTGCTCATCGGGGGCCGCGGCTCCGCCTCGTAGAAGTCGGCCGACTCCATGGGGGAGTTAGAGTTCTCCCGGCATGGCGAGCCTCGGCGGCCTCCAGCCTGCGCGGGGCGTCGCCGCCGCCCACCCGGAGACCCTGCTCGCCCGCGCCCGCGCACCTCCGGGTCGCGAATGGCCCGGCCCGCGCCGGCCCAGCTTTTATACCCGGCAGGCCGCGTCGCCCCCTAGAGTCCGAGGCGGCCTCTGTCCCCGGGCTGCGGCGGCGCGGCGCCTGCTGGGTCCTAGCGCGCGGCCGGCATGGGGCGGCGAACCAGCGCGGCACAGCGCCGCGCTCCCCAGGCAGGCCGCGGCGCAACGCCCACCGCCTCCAGCGCGCCCAGCAGAGCCGCGGCGCTCGCTCCAAGCTCCGCCCCCGGCCCGGCCGTCGCCCCCGCGCCCACGTGGTCGGTAGCGGGGGCCCCCTCCTCCTGCCTGCCCTAGGCGCCCGTATCCAGCCACGGCCGGGAGCCCAGGAGTATCCCGAGGCTGCACGGGGTAGGGGTGGGGGGCGGAGGGCGAGTCTTGGTCTTGAGCTGCTGGGGCGCGGATTCTCTTTCAAAGCCAGAACCAGGCCTGTCCCGGACCCGCGTCCCGGGGAGGCTGCAGCGCAGAGCAGCGGGGCTGGGGCCGGTGGGGGGCCGTTTGGGACGCGCGGAGAGGTCCTGAGCGCGGTGGCTCTGCGTCTCCTAGCTCTGATCTCCAGGCTACCCCTGTGATTCCGCGCAGAGGTACCTCTCGGAGGACGCCGGGGTCCCATGGGCGGCGCCGCGCAGGGCGCTAGGACCCCGCGGGGAGCGGAGGCGGCCTCGGCCCGGGAGCCTGGAGGACCTGGCCGGTCGATCCGCCCGGGCTGGAAAACTTTCTTTATAATTACTTCTCCAGGTCGGAGCGCGCGGCTTGCTAGGCGCGCGGGGCCGGCGCTGTTACCCGGCGTGGAGTCGCCGATTTTTTTTCCTGCGGGACCGCGGGGCCCCCCAGACTAGCGGAGCTGGACGCCGGGGCGAGCACGGGGAGGGGCGCACCGAGGGAGGAGACAAACTTAACTCTGGGGCCGGGATTCCGAGGCGGGGGCCGCAGCCCTCGAGGCCCGAAGCCACCGCTTCCTCCCCCGCCTCCCCATTCAGGTGGGCGCCAACGGCGGGAGCGAGGGTGTCCAGGCCGCCGGGCTGCCAGGTCCGAGCACGCACAGGGAGAACTCTGCCCAGTGGTTCGCCGGGCGCTGTAGTCCCCGGGATCCTAGGGACCGAGGCGGCCAGGCCCTGGGGCCCCTTGAGTGCGGCAGCTAATGCTCTCACCGCGGCGGGGGAAGGAGCTTGCCACCGAGACCCCCAGCCACGTGCGTCCCTCGCATTCTTTACCGGGGCCGGGGTGGCGGCTACGGACCGTCAGCTGGGCCCAGATGGAGTCTTGGGAGCCCTCAAGTGTCTCCTGTCCTTGCCCGCGCCGCCCCTCGCCACTGGCGCTGAGGCCTGACGCCGCCTGCGTCCCGGCTAGAGGCGCGCTTGCCTACAGGTGAGGGAAGACCCCCTTCACCGACAGTGGCCTTAGGCCTGGCAAGGCGCCACGACCCGCCCAGGAGCCCCGGAGGGGGCACAGCTAAAAACACCGCTGGAGAGCCCCGAGCTTCCACGACGATCGCAGTAAAGAAGCAGTTTCATCTGGGCAACGCACACTGCGCTTTAATCAAGTTCCTATTCAACATAGTCCCAGTGATTAATAGCCCAACTGCTTCGTTTTCGGTCCAGAGCTCATAAACAAGATATTTTTAGCTTGACGCTTTTGGACGGGAGGGAGTAAAAACCAGATACGTT 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Task1_train_27009 | Chromosome 19 houses a mutation in gene PEPD (peptidase D). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Prolidase deficiency | CTTGGCTTGGGAACTCTTGGATGGGAGCTCTGTGAGAAGGCAAACCTGGAATGGTGTACAGAATTCTAGAAACCAGCTCCAGGGGTGGGCTGTTCTGCGGGACCCTGGGAGAACTGGACAAGCAGAGGCAAGGACAGATACTTCACCAGGCATGGCTGGGCCCTGGCTGGCTTCCTGCCTGGTAGAATTTGTTCAAGGACTACACTTAGGGAGGACAAGCGGTCTCTGCAAATTGGCTGTGGCGCTGCCTTCGTTGGCAGTGTCTCCGACAGATGCTGGCTTTGGCTAGTGTGTCCCACATGAAAAAGAAATCAAGGACAAGAGATCCCTGCAAGTCTCAGGTTTTAAATATCTGCAGCTCAAGCGCTACATGATTCTACCACCTTCAGAAATCTAGTTTGGAGGCAGTGACCGTATCAGAAAGACTTGTGTTAAATCAGTCCGCCCTTTAACTTGCGCAAAGGCATGGCGCGGGGTGACTTGGCCAGTCTGACCTGAGTGCCTAGGATCTTCCTGCAGCGTTGCTTGCCCCACCTCAAACCTCGGGCTGCGCTGGTACTGACAAGCTAAAACCACCTTGCCTAGGAGTACTTCTCACACTTGTCTGTCAGGAGCATCTGGCGGGCGCTTGTGAAATACACAATTCCTGGGCCATTGCCCCTAGACGTTGGGTCAGATGGTCTGTGGGGGTCCCAGGAATCTCTTACCAAATGCCCCAGTGGTTCTGATGCCTGTTAGGCTTGGGAAACCTTGCAGCAAGTGACAGGGTGACACCAGAGCCCCGAGTCCCAGGGGCTCAAAGCAGGCTCCTCGGGGAGGACTCTGCCCTTGTCCCGCCAGGCCAGTCTGAGGCAGAAGCAGCCGTTAGAGGGCCTGTGCTGCCAGCACCATCTTCCTGGAACTGACTTGATACTGACACCAGGTGAGCCATCTTTTCAGGGTGCACGGGGTCCCAAATGCTCATCTGCAAAGGAATAAAGGGGAAGCCACGCACAAAGGACCATTTTAGGAAACCTTTTATTGCAAATGCCATTCTGCATATTGATTTTTGACAGAAAGTATCAGAAATGCTTCTTTCCTGGGAAAAGGAATATAAATGACAGCAAGACACATTTTAGTTGCTACTAAAGAACAGCATTATTTTCAATCATTTTAAGTCGCTCATTTAATAAGCAAGGTATAAAACAGATTAAAGGTGGGAGCCTGCAAAAGGGTAATTAAAAAAGTGTTTCCTCCCCGGGAAACAGCACTGTTTGGTCTGATCAAATGCCGAAGCTGGGATCTGATTCTGGGTGCCGTCTCTCGCTACTGGAGTGCTGACCAGCAGGCTGCCCATCACGAAAAGAGGTTGCAAGGCCAGGCCCCCAGGTGCGCTGGGATTTCTGGCTGGCTCTACTTGGGGCCAGAGAAGGGGGTAAAGGCCTTGTCACAGCCTGCCATGCATGCTTCAATCTCTTCCACAGTGCGGGGCACGCAGGTCAGCAGCTCTATGCCGCTGTCAGTCACCACGACGTCCTCCTCGATGCGGACCTGGGTCAAGCCGACAGACACACATTATCATAGAGCAGCCTCATGTGCCAGGCTAGAGGGCCGGGCCCATTCCAGGCCCACCCCACCATGGGATGGGAGCAGCTGACACTCCCTGGGAGACGGGTGGCCTCCGGGCTCCTTCATGGAGCCATCTGCCCATGTCACCTGCTCACCCTGTCTTTGCCAGGTGGATGGGAGCCCCTGGAGCGGGCAGGGGTTTTGCAGGATCTCTGTCTGTTCCTACTGAGGGGTGAGGCTCCATCCTGTGACAGACCACACGAAGGGGCAGGCTAAGCCCACCTCAAGGGAAGATGTCACTAGGGCCCCTGTCTTGGGACTAAGGAGTCTGCAGCTGCAGTGGAGGTGGCAGATGTTCTGGGAGCAAGAATGGGGCCCGTGGGCACTCACCCCGCCAAAACCGCGAAAGCGCTGCAGGACCTCGCGGTTAAGGAAGGAGGCGCGGGCCGGGTCCGCCAGGGCCTCATCCAGGAGGTGGTCGATGAAGTAGATGCCCGGCTCCACGGTGAGCACCATGCCTGGCTGCAGGTGCCGTGCAGTGCGCAGGCTCCGCAGGCCGGGCTCGTCGATGCGCTCCACGCCCTGTGGGGAACAGAGGTGAGGGGCCTGATGAGCAGCTCCAGGGCTCACCGTGGCCTCATCAGGAGAGATGGGCATGTGAGGGCCGGTGCCAGTCTCGTGGGCTCTCTTGACCATTGGGGTCCTCAGCCTAGACTCGCCCCTGCTGTGCTGGGCCATGGGCACCCTGATAAGACCTTCCACCCTGCACATACCCCTGGATCTTGAGTGTCCCTGGCCACACTACCCTAGGGCTTGCTTGAGAAGCCCTGTGGCCACCCATGTGCACACACCCGGGGCAAGCTGCCCAGACAGGCCTGTGGGGCTGGCTGAGGGTTGGGCTGCCCTTAGCCAGGCCCCGCTGCTGGCCAGAGGAGTGGCAGATGCCAAACCACTGAAGCCAAAAAAGCTCTTAAGGCGGCTGTGAAGCCCCTTGGGGCCACAGCTTTCCTTCCAGGCAGCCCAAGTAGAAACTGGCCCCAGAAGTCGTGGTCCCAGCTCCCCTAGGCCGAGGCCCAGATTTTCCGTGTGACTGTCCAGGGAGGACAGGTGCCGTCATCAGGGTGGGTCTGCCAGCCTTAGTGCGCCAGTGCAAATGTGCCGTGTGCGCGTGGCTTGGCAGGTGTGGCTCCCAGAGGAGAGCTCGGGGCCTTACGGCAGGGCCCTGGGAAATAGCCCCCAGCCTTGGAGAACGCCTGAGGGACAGTGGTAGAGCCGCTCCCTGCAGGGGCCCCTGTCTGCGCCCCACACTGCCCCAGTGCACACCCAGCCTGGCCTTGTCCACTCACAGGCACAGCTGAGGGGGCCTCAGCTTGGCTGAGGGCAGCGGGTGCTCTGGGAATTACAGGAGAGCTCCTGCTCGCCTCAGGTCCCCGGGGCACCATCCGGCCGGCGGCCAGGGCCTCTGAGCCAGTGGGCACGAGTATGCTTTCTGGTCAGGGGATGAGCCTGCCCTGCCCGGCTGCACTCCCTCCCCAGGAAGCCCAGCTGCTGGAGCGGGAGCTGTCATTTCTGACTGTTTGGGGGCCAAGAACATCAGACTCCAATTAGCAGTTCACGTAAGGTAACCAGAAACAGGCTGGCTCGGCCTCCACGCTGGGCACGGCCAGAGAGGCTGTGACTGATTCCACGGAGGGCAGGGACAGCCACGCTGACCTGGAGAGAGCAGGCCAGGCGGGAGGCGATGAGGAGACACCACAGCCTGGCTGGTGTGGCCCCGGCCCCACAACACTTGCCTCTGGGCCGCTGACCGGGAGCTGAGGCCGGAGGGCAGGGATGCCCCGTGGCTGAGGAACCGTATGGAGTGACAGTCCCTCTGCGCAGGTGAGAGGTGCATGTGGACCGAGCTGGGGCCTGTCTCCTGCCCAGAAGCTGCTGGGGGTCCCAGGGTCTCTGCTCCAGGACCTTCCCGTCCCTGTCATCCGAAGCCTGTGCTGGGCTCCCCCACCCCACCGCCGCCCATCCCTCTCCTTCATGCTATTCCTGAAGTGTCCGTCCCTGTCTCCACCCACAGCAATCGAAGCCAGGGGCCTGGGGGAAGCAAGGGCCTGCCAACGTCAGGTTTCCTTCCTTCCAGTCACCCCTCCATCCCCATGGGCCCACCCCGGCTGCTCCATGGTACACGGTTGAGGGGCAGGTTTGTTTCCCCAGAGAAACGAACTTTCCTCCCCTCTGAAATCTTGAGGTCCACCACTGAAGTGGGGTGGGGGAGATTAGAAGGGATCCCCAGCGGGCACAGGGCAAGGCCTGCCTCAGCCCAGTGGCGCAGCTGCCCCTTCAGGGTGTTGGCTCTAGGGGCCTGCCCGGGGGACCTGCTGAGAACAGGGCGCAGGCGCCATAAGAGAATGGGAAGGGCTGGGCCGGGTGGAGCGCAGAGCCATGTGGGGAGGGCACGAGCCCCTGTGGCCCAGGAAGCGCAGCCTTCAGGGGTGGGGAGGGGTCCTGCCCTCACCGCGCCCATGCTCGCCTCTGCCTGGGCACAGGGCTTGAC 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CTTGGCTTGGGAACTCTTGGATGGGAGCTCTGTGAGAAGGCAAACCTGGAATGGTGTACAGAATTCTAGAAACCAGCTCCAGGGGTGGGCTGTTCTGCGGGACCCTGGGAGAACTGGACAAGCAGAGGCAAGGACAGATACTTCACCAGGCATGGCTGGGCCCTGGCTGGCTTCCTGCCTGGTAGAATTTGTTCAAGGACTACACTTAGGGAGGACAAGCGGTCTCTGCAAATTGGCTGTGGCGCTGCCTTCGTTGGCAGTGTCTCCGACAGATGCTGGCTTTGGCTAGTGTGTCCCACATGAAAAAGAAATCAAGGACAAGAGATCCCTGCAAGTCTCAGGTTTTAAATATCTGCAGCTCAAGCGCTACATGATTCTACCACCTTCAGAAATCTAGTTTGGAGGCAGTGACCGTATCAGAAAGACTTGTGTTAAATCAGTCCGCCCTTTAACTTGCGCAAAGGCATGGCGCGGGGTGACTTGGCCAGTCTGACCTGAGTGCCTAGGATCTTCCTGCAGCGTTGCTTGCCCCACCTCAAACCTCGGGCTGCGCTGGTACTGACAAGCTAAAACCACCTTGCCTAGGAGTACTTCTCACACTTGTCTGTCAGGAGCATCTGGCGGGCGCTTGTGAAATACACAATTCCTGGGCCATTGCCCCTAGACGTTGGGTCAGATGGTCTGTGGGGGTCCCAGGAATCTCTTACCAAATGCCCCAGTGGTTCTGATGCCTGTTAGGCTTGGGAAACCTTGCAGCAAGTGACAGGGTGACACCAGAGCCCCGAGTCCCAGGGGCTCAAAGCAGGCTCCTCGGGGAGGACTCTGCCCTTGTCCCGCCAGGCCAGTCTGAGGCAGAAGCAGCCGTTAGAGGGCCTGTGCTGCCAGCACCATCTTCCTGGAACTGACTTGATACTGACACCAGGTGAGCCATCTTTTCAGGGTGCACGGGGTCCCAAATGCTCATCTGCAAAGGAATAAAGGGGAAGCCACGCACAAAGGACCATTTTAGGAAACCTTTTATTGCAAATGCCATTCTGCATATTGATTTTTGACAGAAAGTATCAGAAATGCTTCTTTCCTGGGAAAAGGAATATAAATGACAGCAAGACACATTTTAGTTGCTACTAAAGAACAGCATTATTTTCAATCATTTTAAGTCGCTCATTTAATAAGCAAGGTATAAAACAGATTAAAGGTGGGAGCCTGCAAAAGGGTAATTAAAAAAGTGTTTCCTCCCCGGGAAACAGCACTGTTTGGTCTGATCAAATGCCGAAGCTGGGATCTGATTCTGGGTGCCGTCTCTCGCTACTGGAGTGCTGACCAGCAGGCTGCCCATCACGAAAAGAGGTTGCAAGGCCAGGCCCCCAGGTGCGCTGGGATTTCTGGCTGGCTCTACTTGGGGCCAGAGAAGGGGGTAAAGGCCTTGTCACAGCCTGCCATGCATGCTTCAATCTCTTCCACAGTGCGGGGCACGCAGGTCAGCAGCTCTATGCCGCTGTCAGTCACCACGACGTCCTCCTCGATGCGGACCTGGGTCAAGCCGACAGACACACATTATCATAGAGCAGCCTCATGTGCCAGGCTAGAGGGCCGGGCCCATTCCAGGCCCACCCCACCATGGGATGGGAGCAGCTGACACTCCCTGGGAGACGGGTGGCCTCCGGGCTCCTTCATGGAGCCATCTGCCCATGTCACCTGCTCACCCTGTCTTTGCCAGGTGGATGGGAGCCCCTGGAGCGGGCAGGGGTTTTGCAGGATCTCTGTCTGTTCCTACTGAGGGGTGAGGCTCCATCCTGTGACAGACCACACGAAGGGGCAGGCTAAGCCCACCTCAAGGGAAGATGTCACTAGGGCCCCTGTCTTGGGACTAAGGAGTCTGCAGCTGCAGTGGAGGTGGCAGATGTTCTGGGAGCAAGAATGGGGCCCGTGGGCACTCACCCCGCCAAAACCGCGAAAGCGCTGCAGGACCTCGCGGTTAAGGAAGGAGGCGCGGGCCGGGTCCGCCAGGGCCTCATCCAGGAGGTGGTCGATGAAGTAGATGCCCGGCTTCACGGTGAGCACCATGCCTGGCTGCAGGTGCCGTGCAGTGCGCAGGCTCCGCAGGCCGGGCTCGTCGATGCGCTCCACGCCCTGTGGGGAACAGAGGTGAGGGGCCTGATGAGCAGCTCCAGGGCTCACCGTGGCCTCATCAGGAGAGATGGGCATGTGAGGGCCGGTGCCAGTCTCGTGGGCTCTCTTGACCATTGGGGTCCTCAGCCTAGACTCGCCCCTGCTGTGCTGGGCCATGGGCACCCTGATAAGACCTTCCACCCTGCACATACCCCTGGATCTTGAGTGTCCCTGGCCACACTACCCTAGGGCTTGCTTGAGAAGCCCTGTGGCCACCCATGTGCACACACCCGGGGCAAGCTGCCCAGACAGGCCTGTGGGGCTGGCTGAGGGTTGGGCTGCCCTTAGCCAGGCCCCGCTGCTGGCCAGAGGAGTGGCAGATGCCAAACCACTGAAGCCAAAAAAGCTCTTAAGGCGGCTGTGAAGCCCCTTGGGGCCACAGCTTTCCTTCCAGGCAGCCCAAGTAGAAACTGGCCCCAGAAGTCGTGGTCCCAGCTCCCCTAGGCCGAGGCCCAGATTTTCCGTGTGACTGTCCAGGGAGGACAGGTGCCGTCATCAGGGTGGGTCTGCCAGCCTTAGTGCGCCAGTGCAAATGTGCCGTGTGCGCGTGGCTTGGCAGGTGTGGCTCCCAGAGGAGAGCTCGGGGCCTTACGGCAGGGCCCTGGGAAATAGCCCCCAGCCTTGGAGAACGCCTGAGGGACAGTGGTAGAGCCGCTCCCTGCAGGGGCCCCTGTCTGCGCCCCACACTGCCCCAGTGCACACCCAGCCTGGCCTTGTCCACTCACAGGCACAGCTGAGGGGGCCTCAGCTTGGCTGAGGGCAGCGGGTGCTCTGGGAATTACAGGAGAGCTCCTGCTCGCCTCAGGTCCCCGGGGCACCATCCGGCCGGCGGCCAGGGCCTCTGAGCCAGTGGGCACGAGTATGCTTTCTGGTCAGGGGATGAGCCTGCCCTGCCCGGCTGCACTCCCTCCCCAGGAAGCCCAGCTGCTGGAGCGGGAGCTGTCATTTCTGACTGTTTGGGGGCCAAGAACATCAGACTCCAATTAGCAGTTCACGTAAGGTAACCAGAAACAGGCTGGCTCGGCCTCCACGCTGGGCACGGCCAGAGAGGCTGTGACTGATTCCACGGAGGGCAGGGACAGCCACGCTGACCTGGAGAGAGCAGGCCAGGCGGGAGGCGATGAGGAGACACCACAGCCTGGCTGGTGTGGCCCCGGCCCCACAACACTTGCCTCTGGGCCGCTGACCGGGAGCTGAGGCCGGAGGGCAGGGATGCCCCGTGGCTGAGGAACCGTATGGAGTGACAGTCCCTCTGCGCAGGTGAGAGGTGCATGTGGACCGAGCTGGGGCCTGTCTCCTGCCCAGAAGCTGCTGGGGGTCCCAGGGTCTCTGCTCCAGGACCTTCCCGTCCCTGTCATCCGAAGCCTGTGCTGGGCTCCCCCACCCCACCGCCGCCCATCCCTCTCCTTCATGCTATTCCTGAAGTGTCCGTCCCTGTCTCCACCCACAGCAATCGAAGCCAGGGGCCTGGGGGAAGCAAGGGCCTGCCAACGTCAGGTTTCCTTCCTTCCAGTCACCCCTCCATCCCCATGGGCCCACCCCGGCTGCTCCATGGTACACGGTTGAGGGGCAGGTTTGTTTCCCCAGAGAAACGAACTTTCCTCCCCTCTGAAATCTTGAGGTCCACCACTGAAGTGGGGTGGGGGAGATTAGAAGGGATCCCCAGCGGGCACAGGGCAAGGCCTGCCTCAGCCCAGTGGCGCAGCTGCCCCTTCAGGGTGTTGGCTCTAGGGGCCTGCCCGGGGGACCTGCTGAGAACAGGGCGCAGGCGCCATAAGAGAATGGGAAGGGCTGGGCCGGGTGGAGCGCAGAGCCATGTGGGGAGGGCACGAGCCCCTGTGGCCCAGGAAGCGCAGCCTTCAGGGGTGGGGAGGGGTCCTGCCCTCACCGCGCCCATGCTCGCCTCTGCCTGGGCACAGGGCTTGAC 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Task1_train_27010 | A mutation in PEPD (peptidase D), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Prolidase deficiency | CTGACTGCTCAGAACTCCTTCCAGGGCAAGACCTTAAAAAGACACTCGTCCCCTAAGCACAGCCACAGCGAACTGAAGCATCCAAGCAGCCCACTACGGGCCCCATCCGACCTCGGCCCTGCACCCCACTGATGGCAGGCAGGCCAGCCTGGGAGGGTGATATGGAGCCAGCACCCCCAGGGCCGGGGCTCTGAACAGAGCAGGCCCTGAGGACATCTGGGGTGGACTTGGGCCCTGCAAGGGGGGTAAGGGATACCAGAAACCAAGCTCTCACAAGGACAGGCAGGAAAGGAAAGCCCAGAGTGAGGACATGGGGATGGCAGCCTCTTCAGTGTCACCTCCCCAGAGCTTCCAGGTGGTACCAACACTGGTGGGAGGTCTCGGAATGGGGGCCTCCTGCCCCAGGACACGGGTGGGAAGGGAGCCACTGAGGCAGTTTGGGTCTGACCCAAAGGTTTCCTTGTACCATGGGTGGCAGCACACTGACTTCTGGGTCCTGGAGCGGGGCTGAGCTGGCCAGGCCACACCCGCCACGGCTGGGCAGCCGCCGGAAGCTCCCCGGGTGCCACTGGCTCGCTGCAGCCCTAATAGGAGCAGAAGGCCAATGGAGCTCTCCAGAGCTCTTTATGGGCCATTTAACCATCCCTCAACCCAGTCGCCCGAGCACAGCAGACATAATGGCAGTGTTTACACATAAAAACGGCAAGCTGTTTTACTGGCGGCTTTCAGAGTCATAAGAGCAGCAATTTGGTAAAGTTTCCTGCAAATGGCAGAAACAAAGTCCGAGAGTAGAATGGTGGGGCACTAAACCACCCTGAAAAGTCATCGAAAACCATTACATCAAACACTCTGCCAAGAGCCAGGGAGGCGGGCGCAGTCAGAAGAAAAATAATCTTTGCTTGTGATCCTGAAGCCCTGTTCATAATCTCCGCTCACGGTGTGTGTGCCACTGCGGCGTCTCATCTGTTACTCACTCAGGGAACATAAATTACTGTTTTTTACCTTTTAATTTTACCCGGAGAAACATGGTGGCTTACCTTTCCAACTCATATTCTTTCATTCCCACTTTTACAGCCTTCATTACCTGGAGGACGGATATTAAGCAAAGACATTTGTATTAAGCAGATCAGTAACACAGCGTGATAAATAACATACAGCACTTCTTCAAAAGCACCTCTTCTTTAAAAAGGAAAAAAAGAATGATATGTGCATGCAGTGGTACAGACATGTGACAAATTAGAACTTTTTAAAAGCTCCAAAATCCATACAGTTTATTTAAACTGCTATGAAGCACTTCCATTTGGAAGCCGATAAATGCCATGCCTCAAGTTACAGCTCAGAGGCCACCAGCAGCCCGAGGACAGTGAGGATTTAACCACGAGGTGCTTGGTGAATACTTAATGCCACGAAAGCTATGACGATCACTAAAAGGCCTCCTTTGTTTAACTTTCATAAAACACGGAGAGCATTATCTCGTACAACAGAGTACGCTGCCCATCAATTACCCTTGTCTGTTTCCTAACACAAAACTGCAATGTTCCTGAGCAGACGGTGGGCCATCCTCATCTTTCAAGACATGTGTTTCCTTATTTGGTCTCATTCCTCCAGTAAAGCGGGAAGGTTTGGAAGAGAAATTTTCAGAAAATGGATGATGGTAATCAGTGTGTTTGAACCACAGTTAAGGACAAAAGATTCTTTAAAATGAGCTGAGAACTGCTGGGATATGAAGAAGGAGCACTCTACCCTCCCAGAATTGGGACTTTTTGTTGGATAATTTCCTGAGGATTAGTGTCCACGACTGCATGATGGGCAGGTGCCCTAAGCTGAGGAATTGGGGCAGAGCCCCTTCTGTCCCTGCCCTGTGCCCACCAGGGAACAGAAAAGAGAACAATCACTGTGTAAAACTTCCTACCTCTCACTTGGCCCTCAGGGATTAGAGCCCACCTGGAAACCCTTCATCCTCACGCAGTTCTCTCGCCACACAGCAACACTGCTTTCCCCACTCAACCAGAGCCGGTGCCTGACTTACCTCACGGTGGGCCTCGCTGGAGATTTTATTGGTATAGCGCAGAACCTCCAGCTCCATATCCGTCTTAAACACTCGGCTTCAGAGACAGAAGAACAAAGCAGCAAATCAGTGACTTTCAGGAGGCACTGGCTGGACCCCTCCAGGGAGAGCTCAGGGCCTACCACACCCTGCACAGCCCAGAAGGCGTGTTGTGCAAGGCCAGAGTGGGGCCACCAAGGCCCAGGAGTGACAAGCTCCATGGAACAGTCTAGAAGAAAACCTCTAGCAGGGAGCAGAGCTGCTGCCCACCTTCCCTAACACCAGCCAGCGGGCAGACTGTTTCCAGGGATAAGATCTGGAAGCCGCTGCGGTGGGAGAAGAAGCCTGGTTGCTGCAGCTTGTCACAGGCTGCCTCCCTCAACCTCAGTTTCCCCATGCATGGAAGGGGGATGAAATCTACATGGCATGGCTACTGGGCCATAATCCTAAGCCTGCTGCCTCCCAGGGCTCTGTCCTGTTGGCTGAAGAGGCCTCGTTTCCTCCCCACCCCCACCCACCTGCCCACGGGTGGGTGACAGGGTCAGGTGAAGGGACAGAAGCCATTCCAGTTTCGTGTGTGCTGGTACAAATGTGGAAACAGCTGGACAGCAGACACAGCAGGAGACCAGGAGCAGAGAAGAGGGAGGCAGCCACAGATGAGAGGGTGGTCTACGTGGGCAGGGGAGTCACAATCGAGGGACCCTGCTGTCCCTTCCTGGCTGGGCTGTGCCTCCTGCAACTGGACTCCTGAGGCTTCCAGGTCCTCCCAACAAACTTGTGTTAATTTGCCCAAATGTGGTTAGGTTTCTGGTGGTTGCAATCAATCTCACCCGCGAGTAAGACCCACAGAGAGGAGCCAAATAAGTATTCGTTTTCTACCTCCACCCATTTAAAAAAACCCTGGGTCCGCGGGCACAGAAAGGGCAGCCATGCTGAGGCATTCAGAGCACCGGCCTGGGAGAAAGGCCCTGGGCTCCAGTTCAGCTCCACCCCTTCCCAGCGGTGTGGCCAAGATCCCTACTCTGTGCCTCGGTTTCCCCATCTGAAAAACGGAGATATGAACACTGTTTTCATCATAGGTTTGCAGTGAGAACGGAGTTGGCATTTTTAAAGCACTAAGGACAGTGCCTGGCACACAGTAAGTGCTGTGTACACTTGTTCCAGAAACCAAGCGAAATGCAAAGCCTGCAGACACCACGTCATCCATACTTCCCACCCCAAAGCCAGGTGGAATGCTCTGATGTCCTTAGGTAGGACATCTTGATTCTCATCAAAACATTACTCCCCAGTATTCATGACAGGCCCACAAAGCTAGAGAAATCTCAGCAGGCAAACGCAGCTTCCCTTCACTTTAAATTGCCATTTACTGGGGACCCGCCGCATGGTGGGTCCTGTAAGTTGCAGTGGATGCTGGGTGCACTGCCCAACTCATCCCCTGAGGCCACACCCCTCTACTGGTCTCCTTGATTCGATGGAGGGAGCCAAGACTCAGCTCCCTCGCTTCAGCTGGGGACATCTCTGGGGGCCACTCCAGCACCAAAACTCCCCATGGGAGCAGCTGAGATGCCCTTGTGACAGCATCGCAGCCCAAGCCTGCTCCCTTACTCTGACACACACGCTGATCCTGAGAGCACTCCTCAATACGCTTCCTGCCTACTTGGCTCACAGACTCAGCTTCCCATGGAACCCAACCTAGAACAGGTACTACCTTCCCATTTTACAGATAGCGACACTGAGACTTAACTGAGACAATGTCAAAGAGCGCATGACCCACTCTGTTACACTCACCCCCTTTTTGTTGCACTCCATGCAAAAATTATAGAACCCTACACCCAGACAAACTACTAACCAAATACAGAAGGAAACTAGTCCTTTTTAGACATTCAAAAACTCAGAAATTGGGGAAGTACTTAAGGATGTACTCCAGCAGAGAGAGAAGGGTAGAAGGGTGGGGAGAGGGAGAAAGCACAAGCCAATAAAGAGAAGGAGGTGATATAATGGGATATTTTTAAAAACTGGAGTCAATCCAAAAGTATAATTAGACACTGG 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CTGACTGCTCAGAACTCCTTCCAGGGCAAGACCTTAAAAAGACACTCGTCCCCTAAGCACAGCCACAGCGAACTGAAGCATCCAAGCAGCCCACTACGGGCCCCATCCGACCTCGGCCCTGCACCCCACTGATGGCAGGCAGGCCAGCCTGGGAGGGTGATATGGAGCCAGCACCCCCAGGGCCGGGGCTCTGAACAGAGCAGGCCCTGAGGACATCTGGGGTGGACTTGGGCCCTGCAAGGGGGGTAAGGGATACCAGAAACCAAGCTCTCACAAGGACAGGCAGGAAAGGAAAGCCCAGAGTGAGGACATGGGGATGGCAGCCTCTTCAGTGTCACCTCCCCAGAGCTTCCAGGTGGTACCAACACTGGTGGGAGGTCTCGGAATGGGGGCCTCCTGCCCCAGGACACGGGTGGGAAGGGAGCCACTGAGGCAGTTTGGGTCTGACCCAAAGGTTTCCTTGTACCATGGGTGGCAGCACACTGACTTCTGGGTCCTGGAGCGGGGCTGAGCTGGCCAGGCCACACCCGCCACGGCTGGGCAGCCGCCGGAAGCTCCCCGGGTGCCACTGGCTCGCTGCAGCCCTAATAGGAGCAGAAGGCCAATGGAGCTCTCCAGAGCTCTTTATGGGCCATTTAACCATCCCTCAACCCAGTCGCCCGAGCACAGCAGACATAATGGCAGTGTTTACACATAAAAACGGCAAGCTGTTTTACTGGCGGCTTTCAGAGTCATAAGAGCAGCAATTTGGTAAAGTTTCCTGCAAATGGCAGAAACAAAGTCCGAGAGTAGAATGGTGGGGCACTAAACCACCCTGAAAAGTCATCGAAAACCATTACATCAAACACTCTGCCAAGAGCCAGGGAGGCGGGCGCAGTCAGAAGAAAAATAATCTTTGCTTGTGATCCTGAAGCCCTGTTCATAATCTCCGCTCACGGTGTGTGTGCCACTGCGGCGTCTCATCTGTTACTCACTCAGGGAACATAAATTACTGTTTTTTACCTTTTAATTTTACCCGGAGAAACATGGTGGCTTACCTTTCCAACTCATATTCTTTCATTCCCACTTTTACAGCCTTCATTACCTGGAGGACGGATATTAAGCAAAGACATTTGTATTAAGCAGATCAGTAACACAGCGTGATAAATAACATACAGCACTTCTTCAAAAGCACCTCTTCTTTAAAAAGGAAAAAAAGAATGATATGTGCATGCAGTGGTACAGACATGTGACAAATTAGAACTTTTTAAAAGCTCCAAAATCCATACAGTTTATTTAAACTGCTATGAAGCACTTCCATTTGGAAGCCGATAAATGCCATGCCTCAAGTTACAGCTCAGAGGCCACCAGCAGCCCGAGGACAGTGAGGATTTAACCACGAGGTGCTTGGTGAATACTTAATGCCACGAAAGCTATGACGATCACTAAAAGGCCTCCTTTGTTTAACTTTCATAAAACACGGAGAGCATTATCTCGTACAACAGAGTACGCTGCCCATCAATTACCCTTGTCTGTTTCCTAACACAAAACTGCAATGTTCCTGAGCAGACGGTGGGCCATCCTCATCTTTCAAGACATGTGTTTCCTTATTTGGTCTCATTCCTCCAGTAAAGCGGGAAGGTTTGGAAGAGAAATTTTCAGAAAATGGATGATGGTAATCAGTGTGTTTGAACCACAGTTAAGGACAAAAGATTCTTTAAAATGAGCTGAGAACTGCTGGGATATGAAGAAGGAGCACTCTACCCTCCCAGAATTGGGACTTTTTGTTGGATAATTTCCTGAGGATTAGTGTCCACGACTGCATGATGGGCAGGTGCCCTAAGCTGAGGAATTGGGGCAGAGCCCCTTCTGTCCCTGCCCTGTGCCCACCAGGGAACAGAAAAGAGAACAATCACTGTGTAAAACTTCCTACCTCTCACTTGGCCCTCAGGGATTAGAGCCCACCTGGAAACCCTTCATCCTCACGCAGTTCTCTCGCCACACAGCAACACTGCTTTCCCCACTCAACCAGAGCCGGTGCCTGACTTACCTCACGGTGGGCCTCGCTGAAGATTTTATTGGTATAGCGCAGAACCTCCAGCTCCATATCCGTCTTAAACACTCGGCTTCAGAGACAGAAGAACAAAGCAGCAAATCAGTGACTTTCAGGAGGCACTGGCTGGACCCCTCCAGGGAGAGCTCAGGGCCTACCACACCCTGCACAGCCCAGAAGGCGTGTTGTGCAAGGCCAGAGTGGGGCCACCAAGGCCCAGGAGTGACAAGCTCCATGGAACAGTCTAGAAGAAAACCTCTAGCAGGGAGCAGAGCTGCTGCCCACCTTCCCTAACACCAGCCAGCGGGCAGACTGTTTCCAGGGATAAGATCTGGAAGCCGCTGCGGTGGGAGAAGAAGCCTGGTTGCTGCAGCTTGTCACAGGCTGCCTCCCTCAACCTCAGTTTCCCCATGCATGGAAGGGGGATGAAATCTACATGGCATGGCTACTGGGCCATAATCCTAAGCCTGCTGCCTCCCAGGGCTCTGTCCTGTTGGCTGAAGAGGCCTCGTTTCCTCCCCACCCCCACCCACCTGCCCACGGGTGGGTGACAGGGTCAGGTGAAGGGACAGAAGCCATTCCAGTTTCGTGTGTGCTGGTACAAATGTGGAAACAGCTGGACAGCAGACACAGCAGGAGACCAGGAGCAGAGAAGAGGGAGGCAGCCACAGATGAGAGGGTGGTCTACGTGGGCAGGGGAGTCACAATCGAGGGACCCTGCTGTCCCTTCCTGGCTGGGCTGTGCCTCCTGCAACTGGACTCCTGAGGCTTCCAGGTCCTCCCAACAAACTTGTGTTAATTTGCCCAAATGTGGTTAGGTTTCTGGTGGTTGCAATCAATCTCACCCGCGAGTAAGACCCACAGAGAGGAGCCAAATAAGTATTCGTTTTCTACCTCCACCCATTTAAAAAAACCCTGGGTCCGCGGGCACAGAAAGGGCAGCCATGCTGAGGCATTCAGAGCACCGGCCTGGGAGAAAGGCCCTGGGCTCCAGTTCAGCTCCACCCCTTCCCAGCGGTGTGGCCAAGATCCCTACTCTGTGCCTCGGTTTCCCCATCTGAAAAACGGAGATATGAACACTGTTTTCATCATAGGTTTGCAGTGAGAACGGAGTTGGCATTTTTAAAGCACTAAGGACAGTGCCTGGCACACAGTAAGTGCTGTGTACACTTGTTCCAGAAACCAAGCGAAATGCAAAGCCTGCAGACACCACGTCATCCATACTTCCCACCCCAAAGCCAGGTGGAATGCTCTGATGTCCTTAGGTAGGACATCTTGATTCTCATCAAAACATTACTCCCCAGTATTCATGACAGGCCCACAAAGCTAGAGAAATCTCAGCAGGCAAACGCAGCTTCCCTTCACTTTAAATTGCCATTTACTGGGGACCCGCCGCATGGTGGGTCCTGTAAGTTGCAGTGGATGCTGGGTGCACTGCCCAACTCATCCCCTGAGGCCACACCCCTCTACTGGTCTCCTTGATTCGATGGAGGGAGCCAAGACTCAGCTCCCTCGCTTCAGCTGGGGACATCTCTGGGGGCCACTCCAGCACCAAAACTCCCCATGGGAGCAGCTGAGATGCCCTTGTGACAGCATCGCAGCCCAAGCCTGCTCCCTTACTCTGACACACACGCTGATCCTGAGAGCACTCCTCAATACGCTTCCTGCCTACTTGGCTCACAGACTCAGCTTCCCATGGAACCCAACCTAGAACAGGTACTACCTTCCCATTTTACAGATAGCGACACTGAGACTTAACTGAGACAATGTCAAAGAGCGCATGACCCACTCTGTTACACTCACCCCCTTTTTGTTGCACTCCATGCAAAAATTATAGAACCCTACACCCAGACAAACTACTAACCAAATACAGAAGGAAACTAGTCCTTTTTAGACATTCAAAAACTCAGAAATTGGGGAAGTACTTAAGGATGTACTCCAGCAGAGAGAGAAGGGTAGAAGGGTGGGGAGAGGGAGAAAGCACAAGCCAATAAAGAGAAGGAGGTGATATAATGGGATATTTTTAAAAACTGGAGTCAATCCAAAAGTATAATTAGACACTGG 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Task1_train_27011 | Gene PEPD (peptidase D), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | AAGCACAGCCACAGCGAACTGAAGCATCCAAGCAGCCCACTACGGGCCCCATCCGACCTCGGCCCTGCACCCCACTGATGGCAGGCAGGCCAGCCTGGGAGGGTGATATGGAGCCAGCACCCCCAGGGCCGGGGCTCTGAACAGAGCAGGCCCTGAGGACATCTGGGGTGGACTTGGGCCCTGCAAGGGGGGTAAGGGATACCAGAAACCAAGCTCTCACAAGGACAGGCAGGAAAGGAAAGCCCAGAGTGAGGACATGGGGATGGCAGCCTCTTCAGTGTCACCTCCCCAGAGCTTCCAGGTGGTACCAACACTGGTGGGAGGTCTCGGAATGGGGGCCTCCTGCCCCAGGACACGGGTGGGAAGGGAGCCACTGAGGCAGTTTGGGTCTGACCCAAAGGTTTCCTTGTACCATGGGTGGCAGCACACTGACTTCTGGGTCCTGGAGCGGGGCTGAGCTGGCCAGGCCACACCCGCCACGGCTGGGCAGCCGCCGGAAGCTCCCCGGGTGCCACTGGCTCGCTGCAGCCCTAATAGGAGCAGAAGGCCAATGGAGCTCTCCAGAGCTCTTTATGGGCCATTTAACCATCCCTCAACCCAGTCGCCCGAGCACAGCAGACATAATGGCAGTGTTTACACATAAAAACGGCAAGCTGTTTTACTGGCGGCTTTCAGAGTCATAAGAGCAGCAATTTGGTAAAGTTTCCTGCAAATGGCAGAAACAAAGTCCGAGAGTAGAATGGTGGGGCACTAAACCACCCTGAAAAGTCATCGAAAACCATTACATCAAACACTCTGCCAAGAGCCAGGGAGGCGGGCGCAGTCAGAAGAAAAATAATCTTTGCTTGTGATCCTGAAGCCCTGTTCATAATCTCCGCTCACGGTGTGTGTGCCACTGCGGCGTCTCATCTGTTACTCACTCAGGGAACATAAATTACTGTTTTTTACCTTTTAATTTTACCCGGAGAAACATGGTGGCTTACCTTTCCAACTCATATTCTTTCATTCCCACTTTTACAGCCTTCATTACCTGGAGGACGGATATTAAGCAAAGACATTTGTATTAAGCAGATCAGTAACACAGCGTGATAAATAACATACAGCACTTCTTCAAAAGCACCTCTTCTTTAAAAAGGAAAAAAAGAATGATATGTGCATGCAGTGGTACAGACATGTGACAAATTAGAACTTTTTAAAAGCTCCAAAATCCATACAGTTTATTTAAACTGCTATGAAGCACTTCCATTTGGAAGCCGATAAATGCCATGCCTCAAGTTACAGCTCAGAGGCCACCAGCAGCCCGAGGACAGTGAGGATTTAACCACGAGGTGCTTGGTGAATACTTAATGCCACGAAAGCTATGACGATCACTAAAAGGCCTCCTTTGTTTAACTTTCATAAAACACGGAGAGCATTATCTCGTACAACAGAGTACGCTGCCCATCAATTACCCTTGTCTGTTTCCTAACACAAAACTGCAATGTTCCTGAGCAGACGGTGGGCCATCCTCATCTTTCAAGACATGTGTTTCCTTATTTGGTCTCATTCCTCCAGTAAAGCGGGAAGGTTTGGAAGAGAAATTTTCAGAAAATGGATGATGGTAATCAGTGTGTTTGAACCACAGTTAAGGACAAAAGATTCTTTAAAATGAGCTGAGAACTGCTGGGATATGAAGAAGGAGCACTCTACCCTCCCAGAATTGGGACTTTTTGTTGGATAATTTCCTGAGGATTAGTGTCCACGACTGCATGATGGGCAGGTGCCCTAAGCTGAGGAATTGGGGCAGAGCCCCTTCTGTCCCTGCCCTGTGCCCACCAGGGAACAGAAAAGAGAACAATCACTGTGTAAAACTTCCTACCTCTCACTTGGCCCTCAGGGATTAGAGCCCACCTGGAAACCCTTCATCCTCACGCAGTTCTCTCGCCACACAGCAACACTGCTTTCCCCACTCAACCAGAGCCGGTGCCTGACTTACCTCACGGTGGGCCTCGCTGGAGATTTTATTGGTATAGCGCAGAACCTCCAGCTCCATATCCGTCTTAAACACTCGGCTTCAGAGACAGAAGAACAAAGCAGCAAATCAGTGACTTTCAGGAGGCACTGGCTGGACCCCTCCAGGGAGAGCTCAGGGCCTACCACACCCTGCACAGCCCAGAAGGCGTGTTGTGCAAGGCCAGAGTGGGGCCACCAAGGCCCAGGAGTGACAAGCTCCATGGAACAGTCTAGAAGAAAACCTCTAGCAGGGAGCAGAGCTGCTGCCCACCTTCCCTAACACCAGCCAGCGGGCAGACTGTTTCCAGGGATAAGATCTGGAAGCCGCTGCGGTGGGAGAAGAAGCCTGGTTGCTGCAGCTTGTCACAGGCTGCCTCCCTCAACCTCAGTTTCCCCATGCATGGAAGGGGGATGAAATCTACATGGCATGGCTACTGGGCCATAATCCTAAGCCTGCTGCCTCCCAGGGCTCTGTCCTGTTGGCTGAAGAGGCCTCGTTTCCTCCCCACCCCCACCCACCTGCCCACGGGTGGGTGACAGGGTCAGGTGAAGGGACAGAAGCCATTCCAGTTTCGTGTGTGCTGGTACAAATGTGGAAACAGCTGGACAGCAGACACAGCAGGAGACCAGGAGCAGAGAAGAGGGAGGCAGCCACAGATGAGAGGGTGGTCTACGTGGGCAGGGGAGTCACAATCGAGGGACCCTGCTGTCCCTTCCTGGCTGGGCTGTGCCTCCTGCAACTGGACTCCTGAGGCTTCCAGGTCCTCCCAACAAACTTGTGTTAATTTGCCCAAATGTGGTTAGGTTTCTGGTGGTTGCAATCAATCTCACCCGCGAGTAAGACCCACAGAGAGGAGCCAAATAAGTATTCGTTTTCTACCTCCACCCATTTAAAAAAACCCTGGGTCCGCGGGCACAGAAAGGGCAGCCATGCTGAGGCATTCAGAGCACCGGCCTGGGAGAAAGGCCCTGGGCTCCAGTTCAGCTCCACCCCTTCCCAGCGGTGTGGCCAAGATCCCTACTCTGTGCCTCGGTTTCCCCATCTGAAAAACGGAGATATGAACACTGTTTTCATCATAGGTTTGCAGTGAGAACGGAGTTGGCATTTTTAAAGCACTAAGGACAGTGCCTGGCACACAGTAAGTGCTGTGTACACTTGTTCCAGAAACCAAGCGAAATGCAAAGCCTGCAGACACCACGTCATCCATACTTCCCACCCCAAAGCCAGGTGGAATGCTCTGATGTCCTTAGGTAGGACATCTTGATTCTCATCAAAACATTACTCCCCAGTATTCATGACAGGCCCACAAAGCTAGAGAAATCTCAGCAGGCAAACGCAGCTTCCCTTCACTTTAAATTGCCATTTACTGGGGACCCGCCGCATGGTGGGTCCTGTAAGTTGCAGTGGATGCTGGGTGCACTGCCCAACTCATCCCCTGAGGCCACACCCCTCTACTGGTCTCCTTGATTCGATGGAGGGAGCCAAGACTCAGCTCCCTCGCTTCAGCTGGGGACATCTCTGGGGGCCACTCCAGCACCAAAACTCCCCATGGGAGCAGCTGAGATGCCCTTGTGACAGCATCGCAGCCCAAGCCTGCTCCCTTACTCTGACACACACGCTGATCCTGAGAGCACTCCTCAATACGCTTCCTGCCTACTTGGCTCACAGACTCAGCTTCCCATGGAACCCAACCTAGAACAGGTACTACCTTCCCATTTTACAGATAGCGACACTGAGACTTAACTGAGACAATGTCAAAGAGCGCATGACCCACTCTGTTACACTCACCCCCTTTTTGTTGCACTCCATGCAAAAATTATAGAACCCTACACCCAGACAAACTACTAACCAAATACAGAAGGAAACTAGTCCTTTTTAGACATTCAAAAACTCAGAAATTGGGGAAGTACTTAAGGATGTACTCCAGCAGAGAGAGAAGGGTAGAAGGGTGGGGAGAGGGAGAAAGCACAAGCCAATAAAGAGAAGGAGGTGATATAATGGGATATTTTTAAAAACTGGAGTCAATCCAAAAGTATAATTAGACACTGGACAGCAAGCCTAGAAAGCAATCAGTAGAAATTAGAACTCCAAGTATGTGGCTCT 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AAGCACAGCCACAGCGAACTGAAGCATCCAAGCAGCCCACTACGGGCCCCATCCGACCTCGGCCCTGCACCCCACTGATGGCAGGCAGGCCAGCCTGGGAGGGTGATATGGAGCCAGCACCCCCAGGGCCGGGGCTCTGAACAGAGCAGGCCCTGAGGACATCTGGGGTGGACTTGGGCCCTGCAAGGGGGGTAAGGGATACCAGAAACCAAGCTCTCACAAGGACAGGCAGGAAAGGAAAGCCCAGAGTGAGGACATGGGGATGGCAGCCTCTTCAGTGTCACCTCCCCAGAGCTTCCAGGTGGTACCAACACTGGTGGGAGGTCTCGGAATGGGGGCCTCCTGCCCCAGGACACGGGTGGGAAGGGAGCCACTGAGGCAGTTTGGGTCTGACCCAAAGGTTTCCTTGTACCATGGGTGGCAGCACACTGACTTCTGGGTCCTGGAGCGGGGCTGAGCTGGCCAGGCCACACCCGCCACGGCTGGGCAGCCGCCGGAAGCTCCCCGGGTGCCACTGGCTCGCTGCAGCCCTAATAGGAGCAGAAGGCCAATGGAGCTCTCCAGAGCTCTTTATGGGCCATTTAACCATCCCTCAACCCAGTCGCCCGAGCACAGCAGACATAATGGCAGTGTTTACACATAAAAACGGCAAGCTGTTTTACTGGCGGCTTTCAGAGTCATAAGAGCAGCAATTTGGTAAAGTTTCCTGCAAATGGCAGAAACAAAGTCCGAGAGTAGAATGGTGGGGCACTAAACCACCCTGAAAAGTCATCGAAAACCATTACATCAAACACTCTGCCAAGAGCCAGGGAGGCGGGCGCAGTCAGAAGAAAAATAATCTTTGCTTGTGATCCTGAAGCCCTGTTCATAATCTCCGCTCACGGTGTGTGTGCCACTGCGGCGTCTCATCTGTTACTCACTCAGGGAACATAAATTACTGTTTTTTACCTTTTAATTTTACCCGGAGAAACATGGTGGCTTACCTTTCCAACTCATATTCTTTCATTCCCACTTTTACAGCCTTCATTACCTGGAGGACGGATATTAAGCAAAGACATTTGTATTAAGCAGATCAGTAACACAGCGTGATAAATAACATACAGCACTTCTTCAAAAGCACCTCTTCTTTAAAAAGGAAAAAAAGAATGATATGTGCATGCAGTGGTACAGACATGTGACAAATTAGAACTTTTTAAAAGCTCCAAAATCCATACAGTTTATTTAAACTGCTATGAAGCACTTCCATTTGGAAGCCGATAAATGCCATGCCTCAAGTTACAGCTCAGAGGCCACCAGCAGCCCGAGGACAGTGAGGATTTAACCACGAGGTGCTTGGTGAATACTTAATGCCACGAAAGCTATGACGATCACTAAAAGGCCTCCTTTGTTTAACTTTCATAAAACACGGAGAGCATTATCTCGTACAACAGAGTACGCTGCCCATCAATTACCCTTGTCTGTTTCCTAACACAAAACTGCAATGTTCCTGAGCAGACGGTGGGCCATCCTCATCTTTCAAGACATGTGTTTCCTTATTTGGTCTCATTCCTCCAGTAAAGCGGGAAGGTTTGGAAGAGAAATTTTCAGAAAATGGATGATGGTAATCAGTGTGTTTGAACCACAGTTAAGGACAAAAGATTCTTTAAAATGAGCTGAGAACTGCTGGGATATGAAGAAGGAGCACTCTACCCTCCCAGAATTGGGACTTTTTGTTGGATAATTTCCTGAGGATTAGTGTCCACGACTGCATGATGGGCAGGTGCCCTAAGCTGAGGAATTGGGGCAGAGCCCCTTCTGTCCCTGCCCTGTGCCCACCAGGGAACAGAAAAGAGAACAATCACTGTGTAAAACTTCCTACCTCTCACTTGGCCCTCAGGGATTAGAGCCCACCTGGAAACCCTTCATCCTCACGCAGTTCTCTCGCCACACAGCAACACTGCTTTCCCCACTCAACCAGAGCCGGTGCCTGACTTACCTCACGGTGGGCCTCGCTGGAGATTTTATTGGTATAGCGCAGAACCTCCAGCTCCATATCCGTCTTAAACACTTGGCTTCAGAGACAGAAGAACAAAGCAGCAAATCAGTGACTTTCAGGAGGCACTGGCTGGACCCCTCCAGGGAGAGCTCAGGGCCTACCACACCCTGCACAGCCCAGAAGGCGTGTTGTGCAAGGCCAGAGTGGGGCCACCAAGGCCCAGGAGTGACAAGCTCCATGGAACAGTCTAGAAGAAAACCTCTAGCAGGGAGCAGAGCTGCTGCCCACCTTCCCTAACACCAGCCAGCGGGCAGACTGTTTCCAGGGATAAGATCTGGAAGCCGCTGCGGTGGGAGAAGAAGCCTGGTTGCTGCAGCTTGTCACAGGCTGCCTCCCTCAACCTCAGTTTCCCCATGCATGGAAGGGGGATGAAATCTACATGGCATGGCTACTGGGCCATAATCCTAAGCCTGCTGCCTCCCAGGGCTCTGTCCTGTTGGCTGAAGAGGCCTCGTTTCCTCCCCACCCCCACCCACCTGCCCACGGGTGGGTGACAGGGTCAGGTGAAGGGACAGAAGCCATTCCAGTTTCGTGTGTGCTGGTACAAATGTGGAAACAGCTGGACAGCAGACACAGCAGGAGACCAGGAGCAGAGAAGAGGGAGGCAGCCACAGATGAGAGGGTGGTCTACGTGGGCAGGGGAGTCACAATCGAGGGACCCTGCTGTCCCTTCCTGGCTGGGCTGTGCCTCCTGCAACTGGACTCCTGAGGCTTCCAGGTCCTCCCAACAAACTTGTGTTAATTTGCCCAAATGTGGTTAGGTTTCTGGTGGTTGCAATCAATCTCACCCGCGAGTAAGACCCACAGAGAGGAGCCAAATAAGTATTCGTTTTCTACCTCCACCCATTTAAAAAAACCCTGGGTCCGCGGGCACAGAAAGGGCAGCCATGCTGAGGCATTCAGAGCACCGGCCTGGGAGAAAGGCCCTGGGCTCCAGTTCAGCTCCACCCCTTCCCAGCGGTGTGGCCAAGATCCCTACTCTGTGCCTCGGTTTCCCCATCTGAAAAACGGAGATATGAACACTGTTTTCATCATAGGTTTGCAGTGAGAACGGAGTTGGCATTTTTAAAGCACTAAGGACAGTGCCTGGCACACAGTAAGTGCTGTGTACACTTGTTCCAGAAACCAAGCGAAATGCAAAGCCTGCAGACACCACGTCATCCATACTTCCCACCCCAAAGCCAGGTGGAATGCTCTGATGTCCTTAGGTAGGACATCTTGATTCTCATCAAAACATTACTCCCCAGTATTCATGACAGGCCCACAAAGCTAGAGAAATCTCAGCAGGCAAACGCAGCTTCCCTTCACTTTAAATTGCCATTTACTGGGGACCCGCCGCATGGTGGGTCCTGTAAGTTGCAGTGGATGCTGGGTGCACTGCCCAACTCATCCCCTGAGGCCACACCCCTCTACTGGTCTCCTTGATTCGATGGAGGGAGCCAAGACTCAGCTCCCTCGCTTCAGCTGGGGACATCTCTGGGGGCCACTCCAGCACCAAAACTCCCCATGGGAGCAGCTGAGATGCCCTTGTGACAGCATCGCAGCCCAAGCCTGCTCCCTTACTCTGACACACACGCTGATCCTGAGAGCACTCCTCAATACGCTTCCTGCCTACTTGGCTCACAGACTCAGCTTCCCATGGAACCCAACCTAGAACAGGTACTACCTTCCCATTTTACAGATAGCGACACTGAGACTTAACTGAGACAATGTCAAAGAGCGCATGACCCACTCTGTTACACTCACCCCCTTTTTGTTGCACTCCATGCAAAAATTATAGAACCCTACACCCAGACAAACTACTAACCAAATACAGAAGGAAACTAGTCCTTTTTAGACATTCAAAAACTCAGAAATTGGGGAAGTACTTAAGGATGTACTCCAGCAGAGAGAGAAGGGTAGAAGGGTGGGGAGAGGGAGAAAGCACAAGCCAATAAAGAGAAGGAGGTGATATAATGGGATATTTTTAAAAACTGGAGTCAATCCAAAAGTATAATTAGACACTGGACAGCAAGCCTAGAAAGCAATCAGTAGAAATTAGAACTCCAAGTATGTGGCTCT 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Task1_train_27012 | With a mutation on Chromosome 19 in gene PEPD (peptidase D), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Prolidase deficiency | CTGTTTTGCCTCCCTCACCCACCCTGTGTGGTGGCCCAGAGAATCGGTTCTGCTAGAAAAGCTCTCATTCTGGGGCCAGGCGTGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCGGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCATCTCCACTAAAAATACAAAAAATTAGCTGAGTGTGGTGGCACACGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGAAGACTCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCATCATGCCATTGCACTCCAGACTGGGCAACAAGAGCAAAACTACGTCTCAAAAAAAAAAAAAGAAAGAGAAAAAGAAAAGCTCTCATTCCAGGATCCAGTCAGTTCCAGACTTGCTCCCGTCCAGACATCAGCTTGGTTCCTTCAGGAGAGCAGCAGGTCTCAGGCCAGCTTGGAATCCTGAACCCAAATGCAACCCCTGGCACTCCCTGTGAGCACCGAGCCAGCCTAACCAGAGAGACAGCACACCCACAGCTGGGCACCAGCCTGCTCAGTCTACCCTTTAAAAGGGTCACAGGCTGGATTCAAGGATCTGACCCTGAGTTCCTTGACACCCATCTGAGACTTTGTCTGCACTGTTCTCTACCTGAAGGGAGTCTCATTGCTGAAGGACTAGCACAAAAGTCACCCAGGAAGTGAAGCCTTCCCACACTTTATCTGAGCTCAGAGTCCATGCCCCTCCTTTGCAAATGGCAAGACCACACGGCAAGCAGATGGATGACAGAGTCCCATGTGTCCATCTGTTCCAGTGGCCTGTGAGTACCTTAAGGGAAGACCCACTGCTATTCCTGGAATATAGCAGGTGCCCACAAAATATTTGATTTGTATGCTCTAAGCTCCCTCAACCTTGGGGGCCAACTTAGAACCCACTTTCTGTTGCCATTTTCCCTGTATCTTAAAAAGAGAGATGCATTCAGTCCACTAGATCCCCCATTCTGACCTCAGTTTCCAACCTGGCATCTGGAATACTGCTCCCTCCTACACCATGCCCCCTCTACCCCACTGTACCACCAGACCCACACCTTCTCCCATTGAACTCACACATAGCTCAGGGGAGCCTAATCTTTAAAAAACAGATCAAGCAGCTTGTAACAAAACCCTTCCAGCCCATCAGGGCAAAGTCTGAAGCCGCCACCTGGAACACCACACCTTCCAACCAGCCCCAGGCATGCACCCCTGTCCCCAGAACACTCTGAACTCTCAACCTTTGTCCCTTACCCTGGGCTCAGATGCTCCCTATCTGGGAGATTCCGCCCAACGCTCTGGTGAACCCATCTGTCCACCCTTCCTCCCACTACGACCACTCAGCTTTCTTTCATTTAGCCCAGTATGGAGCACCTACTGTGTGCAAGGCACCGGGCTACTGAGAAGCAGGTAACATACCTGCCCTTGCACTCTAAATGCAGAGAAGATAAAGAACAAGTACAAACAATGCTCTATATAGTTTATCAGGTGATGATGAGGGCACAAAAAGTGGGATAGATGGTTAGAGAAGGATTCCCTGAGGGGGTGACATTTGGCCCCTGAAAGAAATGGGGAAGTGCCCTGCTGGGAAAAGGGAATTCCAAGTCCGTCTCGAATACCGCCTCCTCCGGGAAGCGCCCGGGTCCCTGGGGTCCTCGCAACGCCGCCCTCCTACCCGGGGGTCTTGGCAGCGAACATGCGTGTCGACCCCAGCCCCCACCGCAGCCGCACACGGTGGGGCCGCCAGACGCGGGCAGGTGGGGCCGGAGCCAGCCAGGAGGGTGGAGAGGAGCTGCGGCCCCCGCGCTGACCCTGACTCGGAGCGTGCAGCTCGCCGACCGGCGCTGGGACTCCGGGCCAACGGGAAGAGGCGCCTACCCGCGGCATTCAGCGACCCCGGCTGACGCTCTCACCCGCGGTCCGGCCGGGACACCCATGCCCCTCTCCACGCCAGCGGGAAAGAGCGAGGGAGGCGCAGCACTCACCCGGTGGCCGCCGCCATGTTCGCCCGGCACCGGCGTCACGTGAAGTGCGGCGTCAGCTGAGCCCCTCCGGGTGCCAATGCATGGGGCGGGGTAAGGGCGGGGCAGGGGGCGGGGCATGGAGTCCTTGACCCACCTCCTCCAGAGCCAAATTCCACGGGACGGGAAGGGGCGGTACCTGGGGAAGGGCGGAGCCCCGATGGGGCGGGGCTCCCGGAGATTGGGGGCCCAAGAGCTCGGCCAGGATAAATGAGCGGGCTGCCGGCTGCAGACAGTAGGTCGGGTTAGCGGGCAGCATCTGCAGCCTTTTCGTGGTGGGAGGGAGGTCCTGAAGCAGAGGACATCTTGATTCTGGTTCAGTCCCCGATCTGGCGTACCAGCCCACCCGGGAGAAGAACACATAGGAATAAAGAAACCACGTGGGAGGAGAGGAGGGAGACTGACCCAGGCTAGGGTCGGGGCAGAGGTGGCGATTTTTGTTTAAGAAGGGAAAGGGCTTGAGCAAAGGCCGTGGGGCAACTGGAGGACTCTAAATGTGCAGCGTCCAGGAGAATGTGCGCGAGAGAGGGGCAGCCTAAGGGAAGCAAGGGCCAGACCCTGCGGGGCCTCCACTGTGGGGCCTATGAGTTAAGTCTGGTAGGATCTTTTCTAGGTTTCCTGGGCTGCAGAATGGAGAAGCTGGAGGAAGGGAAGCCAGGGAGGAGGGCAGGCGAGAAGTGGGCACAGCCGAGAAGGGTTTAGGAGGGAGAGTCTGCCAGAAGGCTTACTCCTCTGCCCCACTGGGCACTGGTACTGGGTGCAGAGTCCTGCAGAGAAGGTGTAGGGACCCTGCAGCAGACGCTGCCCTCCCTACTGCCAACAGAGTCAGGGCATTACAAGCACGGCCCAAATGCGTTGCACATGTGAGCTCATAGAAACCTCACCACAGCCCTATGAGGTCGAGACTATCTTTAAGTCTATTATACAGATGAGGAAACTGAGGCCAGAGAGTGCTCACACAGAGGCTGAGCTCATGAAGCCATACCCTGAGGAGTGACCTCACTGCCCCTGTGAAGGAAGGGGGCCCCACACTGTTGGGGGAGGGCGTCCCTGGCGCCAAGGGTGTACAGATGTGTGTGGTGTACAGATGTGTGTGGACAGGTGGATGGGTGGCCCAGGATAGGCGTGTGGGGCTCCTGACCCCACCCTGCAGCTGTCCCACAGCTGGAAGTGGCTTCTGATCAAAGGTTGTGGGTTGGGGGATGCTTCTTGTTTCTTTATCGAAACAAGGATGTGGGTCACCATGGCCAGGCTGGTGGGAGCCAGGGGCTATGACTGGAGAAGCAGCTTCTGTTTGTCCCCATGAAGCAGGGAGGAGAATAGGCCCCTTAAATAGGAGCAAGGGAGCCAGCCATAAGCAGGGTAGTGAAGGGCACGTGGCACAGTTACCTGGAAGCCCAGTACCATCCCTGCTGTCCTCATCTGTCAGGAGAGAGCTAATGGGGCCACCTCACAGGGCTGCTAGAGGGTTTTACACTCAAACCTGCAGGCACAGCCAGAGACCAAAGCTGCCAGGAGGAATGTGGCCCCTCCAGACAGCCCCTCCCACCTCCCGGTCCCAGATAAGGAAAACGAGAGCTAATGGAAGAGGGGGGGCCTCATCCCTTCTACCCCTTCCCACAACACATGGACAATTTGCAGGGGTCCCTGACCTCCAGGCAAGGTCCAAGAGGAGCTCTCTCCACCCTCTTGCCAGTTTCCAGGAAGAAGAACAGAGGTAAGGATTCACACCCCACTGCCTGGCCTAGGGGCCCCTGAGAACTTCTAACACCCCTAGTTAAGCAGTAGGTCCGCCTTCAGCTTAAGAAACTCAACTCCCTAGTAAGTGGCGCTTTAAAAAATACATAATAACAAAGGGTGAGCAGAATGAGCTTTCCATGCGCCTTCAAGGAAGGAAAACATACCCCCCAGCTCATTCATTGCACCTGCCTCCCACCATTTCTTTTGACATAAAATATGTCAAAATTAAGCCAGCTGCCAGCTCTGAGTGCTTACTAATATGAAAAAGAAGTCAATATCCCAAACAC 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CTGTTTTGCCTCCCTCACCCACCCTGTGTGGTGGCCCAGAGAATCGGTTCTGCTAGAAAAGCTCTCATTCTGGGGCCAGGCGTGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCGGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCATCTCCACTAAAAATACAAAAAATTAGCTGAGTGTGGTGGCACACGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGAAGACTCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCATCATGCCATTGCACTCCAGACTGGGCAACAAGAGCAAAACTACGTCTCAAAAAAAAAAAAAGAAAGAGAAAAAGAAAAGCTCTCATTCCAGGATCCAGTCAGTTCCAGACTTGCTCCCGTCCAGACATCAGCTTGGTTCCTTCAGGAGAGCAGCAGGTCTCAGGCCAGCTTGGAATCCTGAACCCAAATGCAACCCCTGGCACTCCCTGTGAGCACCGAGCCAGCCTAACCAGAGAGACAGCACACCCACAGCTGGGCACCAGCCTGCTCAGTCTACCCTTTAAAAGGGTCACAGGCTGGATTCAAGGATCTGACCCTGAGTTCCTTGACACCCATCTGAGACTTTGTCTGCACTGTTCTCTACCTGAAGGGAGTCTCATTGCTGAAGGACTAGCACAAAAGTCACCCAGGAAGTGAAGCCTTCCCACACTTTATCTGAGCTCAGAGTCCATGCCCCTCCTTTGCAAATGGCAAGACCACACGGCAAGCAGATGGATGACAGAGTCCCATGTGTCCATCTGTTCCAGTGGCCTGTGAGTACCTTAAGGGAAGACCCACTGCTATTCCTGGAATATAGCAGGTGCCCACAAAATATTTGATTTGTATGCTCTAAGCTCCCTCAACCTTGGGGGCCAACTTAGAACCCACTTTCTGTTGCCATTTTCCCTGTATCTTAAAAAGAGAGATGCATTCAGTCCACTAGATCCCCCATTCTGACCTCAGTTTCCAACCTGGCATCTGGAATACTGCTCCCTCCTACACCATGCCCCCTCTACCCCACTGTACCACCAGACCCACACCTTCTCCCATTGAACTCACACATAGCTCAGGGGAGCCTAATCTTTAAAAAACAGATCAAGCAGCTTGTAACAAAACCCTTCCAGCCCATCAGGGCAAAGTCTGAAGCCGCCACCTGGAACACCACACCTTCCAACCAGCCCCAGGCATGCACCCCTGTCCCCAGAACACTCTGAACTCTCAACCTTTGTCCCTTACCCTGGGCTCAGATGCTCCCTATCTGGGAGATTCCGCCCAACGCTCTGGTGAACCCATCTGTCCACCCTTCCTCCCACTACGACCACTCAGCTTTCTTTCATTTAGCCCAGTATGGAGCACCTACTGTGTGCAAGGCACCGGGCTACTGAGAAGCAGGTAACATACCTGCCCTTGCACTCTAAATGCAGAGAAGATAAAGAACAAGTACAAACAATGCTCTATATAGTTTATCAGGTGATGATGAGGGCACAAAAAGTGGGATAGATGGTTAGAGAAGGATTCCCTGAGGGGGTGACATTTGGCCCCTGAAAGAAATGGGGAAGTGCCCTGCTGGGAAAAGGGAATTCCAAGTCCGTCTCGAATACCGCCTCCTCCGGGAAGCGCCCGGGTCCCTGGGGTCCTCGCAACGCCGCCCTCCTACCCGGGGGTCTTGGCAGCGAACATGCGTGTCGACCCCAGCCCCCACCGCAGCCGCACACGGTGGGGCCGCCAGACGCGGGCAGGTGGGGCCGGAGCCAGCCAGGAGGGTGGAGAGGAGCTGCGGCCCCCGCGCTGACCCTGACTCGGAGCGTGCAGCTCGCCGACCGGCGCTGGGACTCCGGGCCAACGGGAAGAGGCGCCTACCCGCGGCATTCAGCGACCCCGGCTGACGCTCTCACCCGCGGTCCGGCCGGGACACCCATGCCCCTCTCCACGCCAGCGGGAAAGAGCGAGGGAGGCGCAGCACTCACCCGGTGGCCGCCGCCCTGTTCGCCCGGCACCGGCGTCACGTGAAGTGCGGCGTCAGCTGAGCCCCTCCGGGTGCCAATGCATGGGGCGGGGTAAGGGCGGGGCAGGGGGCGGGGCATGGAGTCCTTGACCCACCTCCTCCAGAGCCAAATTCCACGGGACGGGAAGGGGCGGTACCTGGGGAAGGGCGGAGCCCCGATGGGGCGGGGCTCCCGGAGATTGGGGGCCCAAGAGCTCGGCCAGGATAAATGAGCGGGCTGCCGGCTGCAGACAGTAGGTCGGGTTAGCGGGCAGCATCTGCAGCCTTTTCGTGGTGGGAGGGAGGTCCTGAAGCAGAGGACATCTTGATTCTGGTTCAGTCCCCGATCTGGCGTACCAGCCCACCCGGGAGAAGAACACATAGGAATAAAGAAACCACGTGGGAGGAGAGGAGGGAGACTGACCCAGGCTAGGGTCGGGGCAGAGGTGGCGATTTTTGTTTAAGAAGGGAAAGGGCTTGAGCAAAGGCCGTGGGGCAACTGGAGGACTCTAAATGTGCAGCGTCCAGGAGAATGTGCGCGAGAGAGGGGCAGCCTAAGGGAAGCAAGGGCCAGACCCTGCGGGGCCTCCACTGTGGGGCCTATGAGTTAAGTCTGGTAGGATCTTTTCTAGGTTTCCTGGGCTGCAGAATGGAGAAGCTGGAGGAAGGGAAGCCAGGGAGGAGGGCAGGCGAGAAGTGGGCACAGCCGAGAAGGGTTTAGGAGGGAGAGTCTGCCAGAAGGCTTACTCCTCTGCCCCACTGGGCACTGGTACTGGGTGCAGAGTCCTGCAGAGAAGGTGTAGGGACCCTGCAGCAGACGCTGCCCTCCCTACTGCCAACAGAGTCAGGGCATTACAAGCACGGCCCAAATGCGTTGCACATGTGAGCTCATAGAAACCTCACCACAGCCCTATGAGGTCGAGACTATCTTTAAGTCTATTATACAGATGAGGAAACTGAGGCCAGAGAGTGCTCACACAGAGGCTGAGCTCATGAAGCCATACCCTGAGGAGTGACCTCACTGCCCCTGTGAAGGAAGGGGGCCCCACACTGTTGGGGGAGGGCGTCCCTGGCGCCAAGGGTGTACAGATGTGTGTGGTGTACAGATGTGTGTGGACAGGTGGATGGGTGGCCCAGGATAGGCGTGTGGGGCTCCTGACCCCACCCTGCAGCTGTCCCACAGCTGGAAGTGGCTTCTGATCAAAGGTTGTGGGTTGGGGGATGCTTCTTGTTTCTTTATCGAAACAAGGATGTGGGTCACCATGGCCAGGCTGGTGGGAGCCAGGGGCTATGACTGGAGAAGCAGCTTCTGTTTGTCCCCATGAAGCAGGGAGGAGAATAGGCCCCTTAAATAGGAGCAAGGGAGCCAGCCATAAGCAGGGTAGTGAAGGGCACGTGGCACAGTTACCTGGAAGCCCAGTACCATCCCTGCTGTCCTCATCTGTCAGGAGAGAGCTAATGGGGCCACCTCACAGGGCTGCTAGAGGGTTTTACACTCAAACCTGCAGGCACAGCCAGAGACCAAAGCTGCCAGGAGGAATGTGGCCCCTCCAGACAGCCCCTCCCACCTCCCGGTCCCAGATAAGGAAAACGAGAGCTAATGGAAGAGGGGGGGCCTCATCCCTTCTACCCCTTCCCACAACACATGGACAATTTGCAGGGGTCCCTGACCTCCAGGCAAGGTCCAAGAGGAGCTCTCTCCACCCTCTTGCCAGTTTCCAGGAAGAAGAACAGAGGTAAGGATTCACACCCCACTGCCTGGCCTAGGGGCCCCTGAGAACTTCTAACACCCCTAGTTAAGCAGTAGGTCCGCCTTCAGCTTAAGAAACTCAACTCCCTAGTAAGTGGCGCTTTAAAAAATACATAATAACAAAGGGTGAGCAGAATGAGCTTTCCATGCGCCTTCAAGGAAGGAAAACATACCCCCCAGCTCATTCATTGCACCTGCCTCCCACCATTTCTTTTGACATAAAATATGTCAAAATTAAGCCAGCTGCCAGCTCTGAGTGCTTACTAATATGAAAAAGAAGTCAATATCCCAAACAC 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Task1_train_27013 | This genomic variant is located on Chromosome 19, within the GPI (glucose-6-phosphate isomerase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Hemolytic anemia due to glucophosphate isomerase deficiency | GGAGGCAGAGGCTGTAGTGAGACAAGATCGTGTCACTGCACTCCAACCTGGGTGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAGAAGGAGGAGTCAGAGGGAGTCAGTGGTTACTATTGGGCTAGAGTCATCTGAGGAATCACAGGGTAAGTGATAATGGGGCAGTGGCTACTGAGACTCGCCTTCCCATTGGTTGAGGTTTTGTTCTGAAACAGAGGATTTGGGGTGGGAATTCTCTTCTGTGTAGATGAGTAACTGGCTTAGAAAACCCTGATTGGAGTGTTTCTCAGAACCCCCGTAGAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATAATGAGGTCAAGAGATTGAGACCATCCTGGCCAACATGGTGAAACTCCATCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTGGCGTGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCATCTCAAACAAACAAACAAACAAAAAAAGAACTCCAGTAGAACAGATACTGTTCAGCACTACCAGGGTTGTGCTAGGTGTGGAAGCTCAGTGAAATCTTAAGAGTTGACAGTTCTTAGAAAAGGGCCATGTGGACAGGGCTGTTCCCTGGAAAGTCCTGTGACCCCTCAGTGACCACTTATTTCTTTTGTTGTCAGCCTTTCCCTATTTTCTTTTCTTTTCTTTTCTTTTTTTTAAGACAAGGTGTTGCTGTGTCACCCAAGCTGGAGTACAGTGGTGGTAATCACGGCAGCCTCTAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCGAGTAGCTGGGACTCTGCAGATATGCACCACCACATGCCCCGCTAATTTATTTTTAGTATTTTAGAAGCAGTGTTTTGCTGTCTTGCCCAGGCTCGGCTTGAACTCCTGGCGTCAAGCTATCCCACCTCCCAAAGTGCTGGGATTATAGGCAGGAGTGCCCAGCCCCAGAGTTCTTACAATGACTTACAAGGTCTTACGTGATCTTGTTGCCTCCCTTTTGCTCTCTGACCTCATCTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGCCACCCAGGCTGGAGTACAGTGGCTCACTGCAGTCTTCACCTCCCAGGTTCAAGTGATTATCCTGCCTCAGCCTCCCGAGTTAGCTGGGAATACAGGCACGTGTCACCAGGCCCGGCTAATTTTTGCATTTTTTTTTTCAGTAGAGATGAGGTTTCACCAGGTTGGCCAGTCTGGTCTGGAACTCCTGGCCTCACATGATCCGCCTGCCTCGGCCTCCCAAAGTGATGAGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGTCACTTTTTTCTTAATTGCAACCCCGATTCTCAGCACCCTTTTCATCTTGGTTTTCCTCAATAGCCCTTACCACCAGCAGACACACATCATCTGTTGTACTTGCTTATTTGGCACATATGTATCCACAGCGCCTAGAACACTGCCTGTAACGTGGAAGGTGTTCGATCTATAGAGTTTTGTCGAATGAATGAATGAAGCCGACTAGTGCACAGGGAGTGCAGCGGCGCGATGGTAGCTCTCTGCAGCCTCCAACACCTGGGCTCCAGTGATCCCCGGGCTCTGCCCACCCTCCCCACTGCCACTTCCGGGCAGAGGCCAGCAAAGCGGCGGCGCAAGAGGTAGGGAGAGAGGAGCTGAGGCCCCAGATCAGCGGCCGCGGGCAAGGTCGCTCAGCGGGCACCCGGCCTGGGTATCGGGGCGCGGGTCGGGGGCGGGGCCGGGGCTCAGGGGTGGGGCCGGGCCGGGCCGGGCCGGGCGCCTGCGCCATAAAGGCCGCCGCGCGCCCACGCGCCTCGCTTGCTGCGCGCTGCCGGCGCTCCTTCCTCCTCGGCTCGCGTCTCACTCAGTGTACCTTCTAGTCCCGCCATGGCCGCTCTCACCCGGGACCCCCAGTTCCAGAAGCTGCAGCAATGGTACCGCGAGCACCGCTCCGAGCTGAACCTGCGCCGCCTCTTCGATGCCAACAAGGACCGCTTCAACCACTTCAGGTGCGGGCGGGCCGGAGGCGGGGGCTGCCACGCGCGGCGCCCGGAACCGGGCACGCGGGCCTGGGGTCTGGAGGCGGGGGCAGCGGTGCCCGGGGACCCCAGTCCCCGACCTCCAGGCCACGGACTGGGGCCCAGGCCGAGTCCGCACTTCGTCCTTGGAGTCTCCTTGGAGTGCGTTCCTGGGGGCTTGCAGCCTCGCCGGGAGTCTCGGCCCCGGGTCTGCTTCGTTACGAGGAAAAACGGGCCCCTCCGTGGGGACATTTCCCCTCCTCCTCCCCGTGCAGCTCTGGCCATTTGAGCAGGGGCTCCTTTCGCAGTTGTGAAGAGAGGCCTTGGCTGACGCAGCAAGCGGGAAAGGGCTGTCCCTTTCCATCCGCTCCTGGCCACATGAGCTTGGGAGCGTCTGCAGGGCGGGCAGCCCGGGCGGGGGTGTTTGAGGGAGCTGGGTGGAAGGATGGAGACGTCGGGCGTGATTCCTGCAGAAGACACCTGTGCACGACCGGGAAGTGGGAAGGAGTGTTTGAGCAAATCATGGGCGGGAGTGCGGCCAAGGGAGCTCTGATCACTGATACTGGTGGAGGCGGGGGAGGGGAGCGACTGTGGCTCCGGGCTAGACGTCCCGATGGCCATCCCTGTCATCTGGATGGGTGCCTGAGTAACTTACGGCAGAAAGTGGAAGCCCTGGGAAGGGGTGGTCCCCCACTTCAGTCCGGGCTCCTCATCCAGGGTCTGCCTGCATCTACGGTCTGTGAGGATGGCTTCTTTCTCTGGGCTGCTGTTGCAGATCATCCTGGTGGGCCAGCAGGTGACAGACACCACCACTGTGCTGGGTGGCCGCGGCCCTTGTGGGGCGTGGGTCAGGGAGGATGTTTCTTCTGGGAACAGCTCCTGCTTAGGGCATGGCTCCCCGCTAGGGAGACCAGGGTGTGGTCAGCAGCATCTCCATCTTTCTGCAGCTTGACCCTCAACACCAACCATGGGCATATCCTGGTGGATTACTCCAAGAACCTGGTGACGGAGGACGTGATGCGGATGCTGGTGGACTTGGTAATGTTCTGCTTGGGGAGGCATAACTGGTAACCGACAGAGTGGTGGGTGAGCTGGGCTCCTGGGAGTCCCCAGGACCTTGAGTATCTTGAGTTCTTCCTCTCATTAGACCTCAGTCACCTCCTCTGTGCTGGTGAGGCACCTGTCCCTGGCTTAGGTTCTAAGCAGCATCCCAGGGACCCCAGTGTCTGATGTCTGAGTAGACCCTTCCCAGACAGCAGGGGAGGGAACCAGACAGCAGCCGTCTGTCTGTCTCATTGGGGACAGCACCAAGCCTTGTGTTTGGGGGCTGACACTTGGGGTGGCCAGTGTGGGTGGGACCAGGCCTCAGTATCGTCTCTTCCTAGGCCAAGTCCAGGGGCGTGGAGGCCGCCCGGGAGCGGATGTTCAATGGTGAGAAGATCAACTACACCGAGGTGAGCAGGCCCCACATACCCTCTGGGGCCTCCTTCCTTCCCTTTGGGGTTTATCTGACTGTTAGCCGCATCACCCTGTGTCTTCACCCCTTCTCTTGGGCAATGCTTTTGCTTAATGAGGGGCCTGAAGGCCTTTTTCCTCCTGCTTGTAGCAGGGCTTTGGGGTGTGCCTTCCACAAGATTGGTTTGGTGAGCTCCTTGGAATGGTTCCCAGTGTCTGCCTGGGAGGAGCATATCTCATACCCACAGGGAGAGTTTCTCAAGGCTGACATTTTCTTGGAGAAGTTAACTCTAATATATCCTCAATGCAAGTTTTAGTAGCGACAAGAAGAATCTTAGATCACCAAAGACTTCAGCCTACTCAAGCAGTAGGAGTCAATAGGAAGCAGTGGTGAGGCCAGGCCTGGGGGCCCCTGTTCCTGACTCAGTATGGGAGCCCAGCCTGGAGGTATAATGGACACTGAGCACCCAGACTC 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GGAGGCAGAGGCTGTAGTGAGACAAGATCGTGTCACTGCACTCCAACCTGGGTGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAGAAGGAGGAGTCAGAGGGAGTCAGTGGTTACTATTGGGCTAGAGTCATCTGAGGAATCACAGGGTAAGTGATAATGGGGCAGTGGCTACTGAGACTCGCCTTCCCATTGGTTGAGGTTTTGTTCTGAAACAGAGGATTTGGGGTGGGAATTCTCTTCTGTGTAGATGAGTAACTGGCTTAGAAAACCCTGATTGGAGTGTTTCTCAGAACCCCCGTAGAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATAATGAGGTCAAGAGATTGAGACCATCCTGGCCAACATGGTGAAACTCCATCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTGGCGTGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCATCTCAAACAAACAAACAAACAAAAAAAGAACTCCAGTAGAACAGATACTGTTCAGCACTACCAGGGTTGTGCTAGGTGTGGAAGCTCAGTGAAATCTTAAGAGTTGACAGTTCTTAGAAAAGGGCCATGTGGACAGGGCTGTTCCCTGGAAAGTCCTGTGACCCCTCAGTGACCACTTATTTCTTTTGTTGTCAGCCTTTCCCTATTTTCTTTTCTTTTCTTTTCTTTTTTTTAAGACAAGGTGTTGCTGTGTCACCCAAGCTGGAGTACAGTGGTGGTAATCACGGCAGCCTCTAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCGAGTAGCTGGGACTCTGCAGATATGCACCACCACATGCCCCGCTAATTTATTTTTAGTATTTTAGAAGCAGTGTTTTGCTGTCTTGCCCAGGCTCGGCTTGAACTCCTGGCGTCAAGCTATCCCACCTCCCAAAGTGCTGGGATTATAGGCAGGAGTGCCCAGCCCCAGAGTTCTTACAATGACTTACAAGGTCTTACGTGATCTTGTTGCCTCCCTTTTGCTCTCTGACCTCATCTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGCCACCCAGGCTGGAGTACAGTGGCTCACTGCAGTCTTCACCTCCCAGGTTCAAGTGATTATCCTGCCTCAGCCTCCCGAGTTAGCTGGGAATACAGGCACGTGTCACCAGGCCCGGCTAATTTTTGCATTTTTTTTTTCAGTAGAGATGAGGTTTCACCAGGTTGGCCAGTCTGGTCTGGAACTCCTGGCCTCACATGATCCGCCTGCCTCGGCCTCCCAAAGTGATGAGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGTCACTTTTTTCTTAATTGCAACCCCGATTCTCAGCACCCTTTTCATCTTGGTTTTCCTCAATAGCCCTTACCACCAGCAGACACACATCATCTGTTGTACTTGCTTATTTGGCACATATGTATCCACAGCGCCTAGAACACTGCCTGTAACGTGGAAGGTGTTCGATCTATAGAGTTTTGTCGAATGAATGAATGAAGCCGACTAGTGCACAGGGAGTGCAGCGGCGCGATGGTAGCTCTCTGCAGCCTCCAACACCTGGGCTCCAGTGATCCCCGGGCTCTGCCCACCCTCCCCACTGCCACTTCCGGGCAGAGGCCAGCAAAGCGGCGGCGCAAGAGGTAGGGAGAGAGGAGCTGAGGCCCCAGATCAGCGGCCGCGGGCAAGGTCGCTCAGCGGGCACCCGGCCTGGGTATCGGGGCGCGGGTCGGGGGCGGGGCCGGGGCTCAGGGGTGGGGCCGGGCCGGGCCGGGCCGGGCGCCTGCGCCATAAAGGCCGCCGCGCGCCCACGCGCCTCGCTTGCTGCGCGCTGCCGGCGCTCCTTCCTCCTCGGCTCGCGTCTCACTCAGTGTACCTTCTAGTCCCGCCATGGCCGCTCTCATCCGGGACCCCCAGTTCCAGAAGCTGCAGCAATGGTACCGCGAGCACCGCTCCGAGCTGAACCTGCGCCGCCTCTTCGATGCCAACAAGGACCGCTTCAACCACTTCAGGTGCGGGCGGGCCGGAGGCGGGGGCTGCCACGCGCGGCGCCCGGAACCGGGCACGCGGGCCTGGGGTCTGGAGGCGGGGGCAGCGGTGCCCGGGGACCCCAGTCCCCGACCTCCAGGCCACGGACTGGGGCCCAGGCCGAGTCCGCACTTCGTCCTTGGAGTCTCCTTGGAGTGCGTTCCTGGGGGCTTGCAGCCTCGCCGGGAGTCTCGGCCCCGGGTCTGCTTCGTTACGAGGAAAAACGGGCCCCTCCGTGGGGACATTTCCCCTCCTCCTCCCCGTGCAGCTCTGGCCATTTGAGCAGGGGCTCCTTTCGCAGTTGTGAAGAGAGGCCTTGGCTGACGCAGCAAGCGGGAAAGGGCTGTCCCTTTCCATCCGCTCCTGGCCACATGAGCTTGGGAGCGTCTGCAGGGCGGGCAGCCCGGGCGGGGGTGTTTGAGGGAGCTGGGTGGAAGGATGGAGACGTCGGGCGTGATTCCTGCAGAAGACACCTGTGCACGACCGGGAAGTGGGAAGGAGTGTTTGAGCAAATCATGGGCGGGAGTGCGGCCAAGGGAGCTCTGATCACTGATACTGGTGGAGGCGGGGGAGGGGAGCGACTGTGGCTCCGGGCTAGACGTCCCGATGGCCATCCCTGTCATCTGGATGGGTGCCTGAGTAACTTACGGCAGAAAGTGGAAGCCCTGGGAAGGGGTGGTCCCCCACTTCAGTCCGGGCTCCTCATCCAGGGTCTGCCTGCATCTACGGTCTGTGAGGATGGCTTCTTTCTCTGGGCTGCTGTTGCAGATCATCCTGGTGGGCCAGCAGGTGACAGACACCACCACTGTGCTGGGTGGCCGCGGCCCTTGTGGGGCGTGGGTCAGGGAGGATGTTTCTTCTGGGAACAGCTCCTGCTTAGGGCATGGCTCCCCGCTAGGGAGACCAGGGTGTGGTCAGCAGCATCTCCATCTTTCTGCAGCTTGACCCTCAACACCAACCATGGGCATATCCTGGTGGATTACTCCAAGAACCTGGTGACGGAGGACGTGATGCGGATGCTGGTGGACTTGGTAATGTTCTGCTTGGGGAGGCATAACTGGTAACCGACAGAGTGGTGGGTGAGCTGGGCTCCTGGGAGTCCCCAGGACCTTGAGTATCTTGAGTTCTTCCTCTCATTAGACCTCAGTCACCTCCTCTGTGCTGGTGAGGCACCTGTCCCTGGCTTAGGTTCTAAGCAGCATCCCAGGGACCCCAGTGTCTGATGTCTGAGTAGACCCTTCCCAGACAGCAGGGGAGGGAACCAGACAGCAGCCGTCTGTCTGTCTCATTGGGGACAGCACCAAGCCTTGTGTTTGGGGGCTGACACTTGGGGTGGCCAGTGTGGGTGGGACCAGGCCTCAGTATCGTCTCTTCCTAGGCCAAGTCCAGGGGCGTGGAGGCCGCCCGGGAGCGGATGTTCAATGGTGAGAAGATCAACTACACCGAGGTGAGCAGGCCCCACATACCCTCTGGGGCCTCCTTCCTTCCCTTTGGGGTTTATCTGACTGTTAGCCGCATCACCCTGTGTCTTCACCCCTTCTCTTGGGCAATGCTTTTGCTTAATGAGGGGCCTGAAGGCCTTTTTCCTCCTGCTTGTAGCAGGGCTTTGGGGTGTGCCTTCCACAAGATTGGTTTGGTGAGCTCCTTGGAATGGTTCCCAGTGTCTGCCTGGGAGGAGCATATCTCATACCCACAGGGAGAGTTTCTCAAGGCTGACATTTTCTTGGAGAAGTTAACTCTAATATATCCTCAATGCAAGTTTTAGTAGCGACAAGAAGAATCTTAGATCACCAAAGACTTCAGCCTACTCAAGCAGTAGGAGTCAATAGGAAGCAGTGGTGAGGCCAGGCCTGGGGGCCCCTGTTCCTGACTCAGTATGGGAGCCCAGCCTGGAGGTATAATGGACACTGAGCACCCAGACTC 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Task1_train_27014 | This variant impacts the gene GPI (glucose-6-phosphate isomerase) on Chromosome 19. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hemolytic anemia due to glucophosphate isomerase deficiency | ACCTGGGTGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAGAAGGAGGAGTCAGAGGGAGTCAGTGGTTACTATTGGGCTAGAGTCATCTGAGGAATCACAGGGTAAGTGATAATGGGGCAGTGGCTACTGAGACTCGCCTTCCCATTGGTTGAGGTTTTGTTCTGAAACAGAGGATTTGGGGTGGGAATTCTCTTCTGTGTAGATGAGTAACTGGCTTAGAAAACCCTGATTGGAGTGTTTCTCAGAACCCCCGTAGAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATAATGAGGTCAAGAGATTGAGACCATCCTGGCCAACATGGTGAAACTCCATCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTGGCGTGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCATCTCAAACAAACAAACAAACAAAAAAAGAACTCCAGTAGAACAGATACTGTTCAGCACTACCAGGGTTGTGCTAGGTGTGGAAGCTCAGTGAAATCTTAAGAGTTGACAGTTCTTAGAAAAGGGCCATGTGGACAGGGCTGTTCCCTGGAAAGTCCTGTGACCCCTCAGTGACCACTTATTTCTTTTGTTGTCAGCCTTTCCCTATTTTCTTTTCTTTTCTTTTCTTTTTTTTAAGACAAGGTGTTGCTGTGTCACCCAAGCTGGAGTACAGTGGTGGTAATCACGGCAGCCTCTAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCGAGTAGCTGGGACTCTGCAGATATGCACCACCACATGCCCCGCTAATTTATTTTTAGTATTTTAGAAGCAGTGTTTTGCTGTCTTGCCCAGGCTCGGCTTGAACTCCTGGCGTCAAGCTATCCCACCTCCCAAAGTGCTGGGATTATAGGCAGGAGTGCCCAGCCCCAGAGTTCTTACAATGACTTACAAGGTCTTACGTGATCTTGTTGCCTCCCTTTTGCTCTCTGACCTCATCTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGCCACCCAGGCTGGAGTACAGTGGCTCACTGCAGTCTTCACCTCCCAGGTTCAAGTGATTATCCTGCCTCAGCCTCCCGAGTTAGCTGGGAATACAGGCACGTGTCACCAGGCCCGGCTAATTTTTGCATTTTTTTTTTCAGTAGAGATGAGGTTTCACCAGGTTGGCCAGTCTGGTCTGGAACTCCTGGCCTCACATGATCCGCCTGCCTCGGCCTCCCAAAGTGATGAGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGTCACTTTTTTCTTAATTGCAACCCCGATTCTCAGCACCCTTTTCATCTTGGTTTTCCTCAATAGCCCTTACCACCAGCAGACACACATCATCTGTTGTACTTGCTTATTTGGCACATATGTATCCACAGCGCCTAGAACACTGCCTGTAACGTGGAAGGTGTTCGATCTATAGAGTTTTGTCGAATGAATGAATGAAGCCGACTAGTGCACAGGGAGTGCAGCGGCGCGATGGTAGCTCTCTGCAGCCTCCAACACCTGGGCTCCAGTGATCCCCGGGCTCTGCCCACCCTCCCCACTGCCACTTCCGGGCAGAGGCCAGCAAAGCGGCGGCGCAAGAGGTAGGGAGAGAGGAGCTGAGGCCCCAGATCAGCGGCCGCGGGCAAGGTCGCTCAGCGGGCACCCGGCCTGGGTATCGGGGCGCGGGTCGGGGGCGGGGCCGGGGCTCAGGGGTGGGGCCGGGCCGGGCCGGGCCGGGCGCCTGCGCCATAAAGGCCGCCGCGCGCCCACGCGCCTCGCTTGCTGCGCGCTGCCGGCGCTCCTTCCTCCTCGGCTCGCGTCTCACTCAGTGTACCTTCTAGTCCCGCCATGGCCGCTCTCACCCGGGACCCCCAGTTCCAGAAGCTGCAGCAATGGTACCGCGAGCACCGCTCCGAGCTGAACCTGCGCCGCCTCTTCGATGCCAACAAGGACCGCTTCAACCACTTCAGGTGCGGGCGGGCCGGAGGCGGGGGCTGCCACGCGCGGCGCCCGGAACCGGGCACGCGGGCCTGGGGTCTGGAGGCGGGGGCAGCGGTGCCCGGGGACCCCAGTCCCCGACCTCCAGGCCACGGACTGGGGCCCAGGCCGAGTCCGCACTTCGTCCTTGGAGTCTCCTTGGAGTGCGTTCCTGGGGGCTTGCAGCCTCGCCGGGAGTCTCGGCCCCGGGTCTGCTTCGTTACGAGGAAAAACGGGCCCCTCCGTGGGGACATTTCCCCTCCTCCTCCCCGTGCAGCTCTGGCCATTTGAGCAGGGGCTCCTTTCGCAGTTGTGAAGAGAGGCCTTGGCTGACGCAGCAAGCGGGAAAGGGCTGTCCCTTTCCATCCGCTCCTGGCCACATGAGCTTGGGAGCGTCTGCAGGGCGGGCAGCCCGGGCGGGGGTGTTTGAGGGAGCTGGGTGGAAGGATGGAGACGTCGGGCGTGATTCCTGCAGAAGACACCTGTGCACGACCGGGAAGTGGGAAGGAGTGTTTGAGCAAATCATGGGCGGGAGTGCGGCCAAGGGAGCTCTGATCACTGATACTGGTGGAGGCGGGGGAGGGGAGCGACTGTGGCTCCGGGCTAGACGTCCCGATGGCCATCCCTGTCATCTGGATGGGTGCCTGAGTAACTTACGGCAGAAAGTGGAAGCCCTGGGAAGGGGTGGTCCCCCACTTCAGTCCGGGCTCCTCATCCAGGGTCTGCCTGCATCTACGGTCTGTGAGGATGGCTTCTTTCTCTGGGCTGCTGTTGCAGATCATCCTGGTGGGCCAGCAGGTGACAGACACCACCACTGTGCTGGGTGGCCGCGGCCCTTGTGGGGCGTGGGTCAGGGAGGATGTTTCTTCTGGGAACAGCTCCTGCTTAGGGCATGGCTCCCCGCTAGGGAGACCAGGGTGTGGTCAGCAGCATCTCCATCTTTCTGCAGCTTGACCCTCAACACCAACCATGGGCATATCCTGGTGGATTACTCCAAGAACCTGGTGACGGAGGACGTGATGCGGATGCTGGTGGACTTGGTAATGTTCTGCTTGGGGAGGCATAACTGGTAACCGACAGAGTGGTGGGTGAGCTGGGCTCCTGGGAGTCCCCAGGACCTTGAGTATCTTGAGTTCTTCCTCTCATTAGACCTCAGTCACCTCCTCTGTGCTGGTGAGGCACCTGTCCCTGGCTTAGGTTCTAAGCAGCATCCCAGGGACCCCAGTGTCTGATGTCTGAGTAGACCCTTCCCAGACAGCAGGGGAGGGAACCAGACAGCAGCCGTCTGTCTGTCTCATTGGGGACAGCACCAAGCCTTGTGTTTGGGGGCTGACACTTGGGGTGGCCAGTGTGGGTGGGACCAGGCCTCAGTATCGTCTCTTCCTAGGCCAAGTCCAGGGGCGTGGAGGCCGCCCGGGAGCGGATGTTCAATGGTGAGAAGATCAACTACACCGAGGTGAGCAGGCCCCACATACCCTCTGGGGCCTCCTTCCTTCCCTTTGGGGTTTATCTGACTGTTAGCCGCATCACCCTGTGTCTTCACCCCTTCTCTTGGGCAATGCTTTTGCTTAATGAGGGGCCTGAAGGCCTTTTTCCTCCTGCTTGTAGCAGGGCTTTGGGGTGTGCCTTCCACAAGATTGGTTTGGTGAGCTCCTTGGAATGGTTCCCAGTGTCTGCCTGGGAGGAGCATATCTCATACCCACAGGGAGAGTTTCTCAAGGCTGACATTTTCTTGGAGAAGTTAACTCTAATATATCCTCAATGCAAGTTTTAGTAGCGACAAGAAGAATCTTAGATCACCAAAGACTTCAGCCTACTCAAGCAGTAGGAGTCAATAGGAAGCAGTGGTGAGGCCAGGCCTGGGGGCCCCTGTTCCTGACTCAGTATGGGAGCCCAGCCTGGAGGTATAATGGACACTGAGCACCCAGACTCTGTCCTCATGATGTCATTATCCTCCTCTTACATGTGAGGAGTCTG 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ACCTGGGTGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAGAAGGAGGAGTCAGAGGGAGTCAGTGGTTACTATTGGGCTAGAGTCATCTGAGGAATCACAGGGTAAGTGATAATGGGGCAGTGGCTACTGAGACTCGCCTTCCCATTGGTTGAGGTTTTGTTCTGAAACAGAGGATTTGGGGTGGGAATTCTCTTCTGTGTAGATGAGTAACTGGCTTAGAAAACCCTGATTGGAGTGTTTCTCAGAACCCCCGTAGAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATAATGAGGTCAAGAGATTGAGACCATCCTGGCCAACATGGTGAAACTCCATCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTGGCGTGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCATCTCAAACAAACAAACAAACAAAAAAAGAACTCCAGTAGAACAGATACTGTTCAGCACTACCAGGGTTGTGCTAGGTGTGGAAGCTCAGTGAAATCTTAAGAGTTGACAGTTCTTAGAAAAGGGCCATGTGGACAGGGCTGTTCCCTGGAAAGTCCTGTGACCCCTCAGTGACCACTTATTTCTTTTGTTGTCAGCCTTTCCCTATTTTCTTTTCTTTTCTTTTCTTTTTTTTAAGACAAGGTGTTGCTGTGTCACCCAAGCTGGAGTACAGTGGTGGTAATCACGGCAGCCTCTAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCGAGTAGCTGGGACTCTGCAGATATGCACCACCACATGCCCCGCTAATTTATTTTTAGTATTTTAGAAGCAGTGTTTTGCTGTCTTGCCCAGGCTCGGCTTGAACTCCTGGCGTCAAGCTATCCCACCTCCCAAAGTGCTGGGATTATAGGCAGGAGTGCCCAGCCCCAGAGTTCTTACAATGACTTACAAGGTCTTACGTGATCTTGTTGCCTCCCTTTTGCTCTCTGACCTCATCTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGCCACCCAGGCTGGAGTACAGTGGCTCACTGCAGTCTTCACCTCCCAGGTTCAAGTGATTATCCTGCCTCAGCCTCCCGAGTTAGCTGGGAATACAGGCACGTGTCACCAGGCCCGGCTAATTTTTGCATTTTTTTTTTCAGTAGAGATGAGGTTTCACCAGGTTGGCCAGTCTGGTCTGGAACTCCTGGCCTCACATGATCCGCCTGCCTCGGCCTCCCAAAGTGATGAGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGTCACTTTTTTCTTAATTGCAACCCCGATTCTCAGCACCCTTTTCATCTTGGTTTTCCTCAATAGCCCTTACCACCAGCAGACACACATCATCTGTTGTACTTGCTTATTTGGCACATATGTATCCACAGCGCCTAGAACACTGCCTGTAACGTGGAAGGTGTTCGATCTATAGAGTTTTGTCGAATGAATGAATGAAGCCGACTAGTGCACAGGGAGTGCAGCGGCGCGATGGTAGCTCTCTGCAGCCTCCAACACCTGGGCTCCAGTGATCCCCGGGCTCTGCCCACCCTCCCCACTGCCACTTCCGGGCAGAGGCCAGCAAAGCGGCGGCGCAAGAGGTAGGGAGAGAGGAGCTGAGGCCCCAGATCAGCGGCCGCGGGCAAGGTCGCTCAGCGGGCACCCGGCCTGGGTATCGGGGCGCGGGTCGGGGGCGGGGCCGGGGCTCAGGGGTGGGGCCGGGCCGGGCCGGGCCGGGCGCCTGCGCCATAAAGGCCGCCGCGCGCCCACGCGCCTCGCTTGCTGCGCGCTGCCGGCGCTCCTTCCTCCTCGGCTCGCGTCTCACTCAGTGTACCTTCTAGTCCCGCCATGGCCGCTCTCACCCGGGACCCCCAGTTCCAGAAGCTGCAGCAATGGTACCGCGAGCCCCGCTCCGAGCTGAACCTGCGCCGCCTCTTCGATGCCAACAAGGACCGCTTCAACCACTTCAGGTGCGGGCGGGCCGGAGGCGGGGGCTGCCACGCGCGGCGCCCGGAACCGGGCACGCGGGCCTGGGGTCTGGAGGCGGGGGCAGCGGTGCCCGGGGACCCCAGTCCCCGACCTCCAGGCCACGGACTGGGGCCCAGGCCGAGTCCGCACTTCGTCCTTGGAGTCTCCTTGGAGTGCGTTCCTGGGGGCTTGCAGCCTCGCCGGGAGTCTCGGCCCCGGGTCTGCTTCGTTACGAGGAAAAACGGGCCCCTCCGTGGGGACATTTCCCCTCCTCCTCCCCGTGCAGCTCTGGCCATTTGAGCAGGGGCTCCTTTCGCAGTTGTGAAGAGAGGCCTTGGCTGACGCAGCAAGCGGGAAAGGGCTGTCCCTTTCCATCCGCTCCTGGCCACATGAGCTTGGGAGCGTCTGCAGGGCGGGCAGCCCGGGCGGGGGTGTTTGAGGGAGCTGGGTGGAAGGATGGAGACGTCGGGCGTGATTCCTGCAGAAGACACCTGTGCACGACCGGGAAGTGGGAAGGAGTGTTTGAGCAAATCATGGGCGGGAGTGCGGCCAAGGGAGCTCTGATCACTGATACTGGTGGAGGCGGGGGAGGGGAGCGACTGTGGCTCCGGGCTAGACGTCCCGATGGCCATCCCTGTCATCTGGATGGGTGCCTGAGTAACTTACGGCAGAAAGTGGAAGCCCTGGGAAGGGGTGGTCCCCCACTTCAGTCCGGGCTCCTCATCCAGGGTCTGCCTGCATCTACGGTCTGTGAGGATGGCTTCTTTCTCTGGGCTGCTGTTGCAGATCATCCTGGTGGGCCAGCAGGTGACAGACACCACCACTGTGCTGGGTGGCCGCGGCCCTTGTGGGGCGTGGGTCAGGGAGGATGTTTCTTCTGGGAACAGCTCCTGCTTAGGGCATGGCTCCCCGCTAGGGAGACCAGGGTGTGGTCAGCAGCATCTCCATCTTTCTGCAGCTTGACCCTCAACACCAACCATGGGCATATCCTGGTGGATTACTCCAAGAACCTGGTGACGGAGGACGTGATGCGGATGCTGGTGGACTTGGTAATGTTCTGCTTGGGGAGGCATAACTGGTAACCGACAGAGTGGTGGGTGAGCTGGGCTCCTGGGAGTCCCCAGGACCTTGAGTATCTTGAGTTCTTCCTCTCATTAGACCTCAGTCACCTCCTCTGTGCTGGTGAGGCACCTGTCCCTGGCTTAGGTTCTAAGCAGCATCCCAGGGACCCCAGTGTCTGATGTCTGAGTAGACCCTTCCCAGACAGCAGGGGAGGGAACCAGACAGCAGCCGTCTGTCTGTCTCATTGGGGACAGCACCAAGCCTTGTGTTTGGGGGCTGACACTTGGGGTGGCCAGTGTGGGTGGGACCAGGCCTCAGTATCGTCTCTTCCTAGGCCAAGTCCAGGGGCGTGGAGGCCGCCCGGGAGCGGATGTTCAATGGTGAGAAGATCAACTACACCGAGGTGAGCAGGCCCCACATACCCTCTGGGGCCTCCTTCCTTCCCTTTGGGGTTTATCTGACTGTTAGCCGCATCACCCTGTGTCTTCACCCCTTCTCTTGGGCAATGCTTTTGCTTAATGAGGGGCCTGAAGGCCTTTTTCCTCCTGCTTGTAGCAGGGCTTTGGGGTGTGCCTTCCACAAGATTGGTTTGGTGAGCTCCTTGGAATGGTTCCCAGTGTCTGCCTGGGAGGAGCATATCTCATACCCACAGGGAGAGTTTCTCAAGGCTGACATTTTCTTGGAGAAGTTAACTCTAATATATCCTCAATGCAAGTTTTAGTAGCGACAAGAAGAATCTTAGATCACCAAAGACTTCAGCCTACTCAAGCAGTAGGAGTCAATAGGAAGCAGTGGTGAGGCCAGGCCTGGGGGCCCCTGTTCCTGACTCAGTATGGGAGCCCAGCCTGGAGGTATAATGGACACTGAGCACCCAGACTCTGTCCTCATGATGTCATTATCCTCCTCTTACATGTGAGGAGTCTG 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Task1_train_27015 | This alteration occurs within gene GPI (glucose-6-phosphate isomerase) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; Hemolytic anemia due to glucophosphate isomerase deficiency | CACCTCCTCTGTGCTGGTGAGGCACCTGTCCCTGGCTTAGGTTCTAAGCAGCATCCCAGGGACCCCAGTGTCTGATGTCTGAGTAGACCCTTCCCAGACAGCAGGGGAGGGAACCAGACAGCAGCCGTCTGTCTGTCTCATTGGGGACAGCACCAAGCCTTGTGTTTGGGGGCTGACACTTGGGGTGGCCAGTGTGGGTGGGACCAGGCCTCAGTATCGTCTCTTCCTAGGCCAAGTCCAGGGGCGTGGAGGCCGCCCGGGAGCGGATGTTCAATGGTGAGAAGATCAACTACACCGAGGTGAGCAGGCCCCACATACCCTCTGGGGCCTCCTTCCTTCCCTTTGGGGTTTATCTGACTGTTAGCCGCATCACCCTGTGTCTTCACCCCTTCTCTTGGGCAATGCTTTTGCTTAATGAGGGGCCTGAAGGCCTTTTTCCTCCTGCTTGTAGCAGGGCTTTGGGGTGTGCCTTCCACAAGATTGGTTTGGTGAGCTCCTTGGAATGGTTCCCAGTGTCTGCCTGGGAGGAGCATATCTCATACCCACAGGGAGAGTTTCTCAAGGCTGACATTTTCTTGGAGAAGTTAACTCTAATATATCCTCAATGCAAGTTTTAGTAGCGACAAGAAGAATCTTAGATCACCAAAGACTTCAGCCTACTCAAGCAGTAGGAGTCAATAGGAAGCAGTGGTGAGGCCAGGCCTGGGGGCCCCTGTTCCTGACTCAGTATGGGAGCCCAGCCTGGAGGTATAATGGACACTGAGCACCCAGACTCTGTCCTCATGATGTCATTATCCTCCTCTTACATGTGAGGAGTCTGAGGTTCAGAGGTCACATCACTTATCTAAGATGTCATAGCTGTAAGAGGCAGAATGGAGATTCACACTCAACCTGTCTTGCATTGTGGGTCTAAGCTGAGAGAGGATGCAATCAAGGAAGGCTTTCTGGAGGAGTGCATTTGCCAATAAAATGTGGCGCAGGAGTGGGGTCTGGCAGGGTGAGGGTGGGGTGGCATGAAGCCCTCCACCTTAGCAAGCCTCTCACTGGGTCGGAATCCCAAGATGATCCTTTTCCTGCCCACCTGGGGTCGTTAGACCTTCCCTCAAGGACTCCTCTGCTGACTTCAGGCCATTTCACTCACGTGGCTGGGCCAGCCGCCTGGCACCCGTCACAGACTTCAAGTCTGGTTTGGTTCCTGGCAGTTGGTAGTTATCGGGCTGCTTGGTGAGGGAAGCTTGAGTTGCATGCCTTGCTGCAAATCCAAGGAGCTGAGGACACTGCCTAAAACGTGCCAGCAAACACCATGGACACACATTGGGAGGATGAGGTTACTTCAGGCTTCATGAGCACTCATCTTCGGAAAGCGTTTATTTATTTATTTATTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGTCTAATGGGTTCAGGCGATTCTCTGCCTCAGATTCCTGAGTAGCTGGAACTACAGGTGTGTGCCACCCCCACCTGGCTGATTTTTGTATTTTTAGTAGAGACAGGATGTCACCATGTTGGCCAGGCTGGTCTCGAATTCATGACCTCAAGTTATCCACCTGCCATGGCCTCCCAGAGTTCCGGGATTACAGGCGTGAGCCATGGCGCCCGGCCTCTGAAAGCATTTATTGCTTGTTTCTGACATGTATTGTTGCCATTCTCTGCCTTTGCTCACTGTTCCTCTTTTCTCTCACTGTTCATGCCCTGAGCATCTCTGGCAGGCCTTCGGGGCCTGTCCTAGGCATATATGGGTCCCCTCCTCTCCTCCTGACTGTCTGCAGCACATAAGTCCTTGGGGAGCTCCTACTCCTCTAAGCATACAGTGGGTTCTTGGAACAAGGTTATGGTGCTAACAGAGACCTCAGGGCCTGCCTGTCTAGTGGATAGAGGGCCGAGCTATGGCACCATGCCCAGCTGGGAGCATGGCTGCCTGGGGTTGGGGGGGGCAGTCTTTATATCCTGACCGTAATCCCCAGGGTCGAGCCGTGCTGCACGTGGCTCTGCGGAACCGGTCAAACACACCCATCCTGGTAGACGGCAAGGATGTGATGCCAGAGGTCAACAAGGTTCTGGACAAGATGAAGTCTTTCTGCCAGGTAAGTGGCTACTGGGCCGGACTCACCCTTGGCCGTGTGTGTGAGTTATTTGGGAATCTGGGAGCCCTAAGGGGCAGCTCTTCCCTCTTCTTGTAGGCAGGACTCAGGTTCTCACTGCAGCTTAAGGGAGGGGTTGCCTGTGTGATCGCTGACCCTGGAGTCTCTGCTGAGGCCTGAATTTCTCCTGGCTCTGCTCTGAAGGAATCTGCTGCTGGCAGAAGTGGGGCCAGTTTCTTTCCTGAATTGTAGACACCTATGGACTCATGGTGACAAACCACAGAGGCTTCAAATGAAAAGTGGGGCCCCTGAGAGACAGGACAGTCAGGAAAGGAAGGAGCTTTTTCTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTCTCGCCCAGAGTGGACTGCAGTCGTGCTATCTCAGCTCACTGCAACTTCCGCCTCCTGGATTCAAGCTATTCTCCTACCTCAGCCTCCCGAGTAGCTGGAATTACAATTATGCGCCACCCTGCTCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGCCAGGCTGGTCTCAAACCCCTGACCTCAGGTGATCTGCCTGCCTCACCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCGGAAGGAGCTTTTTCTAATCTCTTTTGTCATACGCCCTTATCACCCAGTCTAGAAACAGATAAAACATTGTAAAATTTCCTCAACCCTGGCTGGGCGCGATGGCTCATGCCTGTGATTCCTGAACTTTGAGAGGCCGGGGTGGGTGGATCACTTGAGGTAAGGAGTTCGAGACCAGCCTGGCCATCATGGTGAAACCCCATCTCCACTAAAAATACAAAAATTAGCCAGTTTTGGTGACATACGCCTGCAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTGAACCCGTGCGGCAGAGGTTGCAGTGAGCTGCGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCTGTCAAAAAAAAAAAAAAATTTCCTCATCCCCATTCCCAGCTAACCCTCCAGAAGCAGCCTTTGTAAAGTTTCCTGTAGCCAGGCGCAGCAGCTCATACCTCTATTCCCAACTATTCAGGAGGCTGAGGTGGGAGGATGGCTTGAGCCTGGGAAGTTGAGGCTGCAGTGAGCCATGGTGACACCACTGCACTGCAGCCTGGGCGACAGCAAGATCGTGTCTCTAAATAAATTTAAAAAATAGAAAAGTTTTCCTGTGAAGTCTTCCAGAAAGTTCCTGTGCACATACACATCTGTCATCTCCTCTTTGAAACACGTACACATGTGCACATGCACACAGGTTGGTTTTCTCCCTGCTCCTCTGAAGCTTATTTCCACCTGGAAGTATGTAAGCAGTGTCCGTGTGTCAGTGACAGTGCATGTAACATGCCTTCTTTTCCTTGTGTGTAGGGTGGTAGGGGTTGCCTCAGAGACCAGCTAAGTTTCCCCACATCAAGCACTTGCCTCAGTGTCTACCCTAGCGGTGATTCTGCAGGGGTGGGTTGGCAGACATCCTCACGTCTGGAGAACGAGGGTGATGCCGGTGTGCCTGTGTGGGCTGTGCATGCTACGAGGGTGATCGTCCAAACTCTTGTCAGCTGTGATCATTTGCTGCTTGTCCTAGGAGCAGTGGCCTCCATGTGTGGCTGGTCAGAGTCCAGTTACTTTGGCCAAGAGCCACTTTCAGACCTGAAAATGGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCATGTGAGGTCGGGAGTTTGAGATCAGCCTGATCAACATGGTGAAACGCCGTCTGTACTAAAAATACAAAAAAATTACCTGGGCGGGCATGGTGGCGAGCACCTGTAATATCAGCTACTGGGGAGGCTGAGGCAGGAGAATCTCTTGAACC 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CACCTCCTCTGTGCTGGTGAGGCACCTGTCCCTGGCTTAGGTTCTAAGCAGCATCCCAGGGACCCCAGTGTCTGATGTCTGAGTAGACCCTTCCCAGACAGCAGGGGAGGGAACCAGACAGCAGCCGTCTGTCTGTCTCATTGGGGACAGCACCAAGCCTTGTGTTTGGGGGCTGACACTTGGGGTGGCCAGTGTGGGTGGGACCAGGCCTCAGTATCGTCTCTTCCTAGGCCAAGTCCAGGGGCGTGGAGGCCGCCCGGGAGCGGATGTTCAATGGTGAGAAGATCAACTACACCGAGGTGAGCAGGCCCCACATACCCTCTGGGGCCTCCTTCCTTCCCTTTGGGGTTTATCTGACTGTTAGCCGCATCACCCTGTGTCTTCACCCCTTCTCTTGGGCAATGCTTTTGCTTAATGAGGGGCCTGAAGGCCTTTTTCCTCCTGCTTGTAGCAGGGCTTTGGGGTGTGCCTTCCACAAGATTGGTTTGGTGAGCTCCTTGGAATGGTTCCCAGTGTCTGCCTGGGAGGAGCATATCTCATACCCACAGGGAGAGTTTCTCAAGGCTGACATTTTCTTGGAGAAGTTAACTCTAATATATCCTCAATGCAAGTTTTAGTAGCGACAAGAAGAATCTTAGATCACCAAAGACTTCAGCCTACTCAAGCAGTAGGAGTCAATAGGAAGCAGTGGTGAGGCCAGGCCTGGGGGCCCCTGTTCCTGACTCAGTATGGGAGCCCAGCCTGGAGGTATAATGGACACTGAGCACCCAGACTCTGTCCTCATGATGTCATTATCCTCCTCTTACATGTGAGGAGTCTGAGGTTCAGAGGTCACATCACTTATCTAAGATGTCATAGCTGTAAGAGGCAGAATGGAGATTCACACTCAACCTGTCTTGCATTGTGGGTCTAAGCTGAGAGAGGATGCAATCAAGGAAGGCTTTCTGGAGGAGTGCATTTGCCAATAAAATGTGGCGCAGGAGTGGGGTCTGGCAGGGTGAGGGTGGGGTGGCATGAAGCCCTCCACCTTAGCAAGCCTCTCACTGGGTCGGAATCCCAAGATGATCCTTTTCCTGCCCACCTGGGGTCGTTAGACCTTCCCTCAAGGACTCCTCTGCTGACTTCAGGCCATTTCACTCACGTGGCTGGGCCAGCCGCCTGGCACCCGTCACAGACTTCAAGTCTGGTTTGGTTCCTGGCAGTTGGTAGTTATCGGGCTGCTTGGTGAGGGAAGCTTGAGTTGCATGCCTTGCTGCAAATCCAAGGAGCTGAGGACACTGCCTAAAACGTGCCAGCAAACACCATGGACACACATTGGGAGGATGAGGTTACTTCAGGCTTCATGAGCACTCATCTTCGGAAAGCGTTTATTTATTTATTTATTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGTCTAATGGGTTCAGGCGATTCTCTGCCTCAGATTCCTGAGTAGCTGGAACTACAGGTGTGTGCCACCCCCACCTGGCTGATTTTTGTATTTTTAGTAGAGACAGGATGTCACCATGTTGGCCAGGCTGGTCTCGAATTCATGACCTCAAGTTATCCACCTGCCATGGCCTCCCAGAGTTCCGGGATTACAGGCGTGAGCCATGGCGCCCGGCCTCTGAAAGCATTTATTGCTTGTTTCTGACATGTATTGTTGCCATTCTCTGCCTTTGCTCACTGTTCCTCTTTTCTCTCACTGTTCATGCCCTGAGCATCTCTGGCAGGCCTTCGGGGCCTGTCCTAGGCATATATGGGTCCCCTCCTCTCCTCCTGACTGTCTGCAGCACATAAGTCCTTGGGGAGCTCCTACTCCTCTAAGCATACAGTGGGTTCTTGGAACAAGGTTATGGTGCTAACAGAGACCTCAGGGCCTGCCTGTCTAGTGGATAGAGGGCCGAGCTATGGCACCATGCCCAGCTGGGAGCATGGCTGCCTGGGGTTGGGGGGGGCAGTCTTTATATCCTGACCGTAATCCCCAGGGTCGAGCCGTGCTGCACATGGCTCTGCGGAACCGGTCAAACACACCCATCCTGGTAGACGGCAAGGATGTGATGCCAGAGGTCAACAAGGTTCTGGACAAGATGAAGTCTTTCTGCCAGGTAAGTGGCTACTGGGCCGGACTCACCCTTGGCCGTGTGTGTGAGTTATTTGGGAATCTGGGAGCCCTAAGGGGCAGCTCTTCCCTCTTCTTGTAGGCAGGACTCAGGTTCTCACTGCAGCTTAAGGGAGGGGTTGCCTGTGTGATCGCTGACCCTGGAGTCTCTGCTGAGGCCTGAATTTCTCCTGGCTCTGCTCTGAAGGAATCTGCTGCTGGCAGAAGTGGGGCCAGTTTCTTTCCTGAATTGTAGACACCTATGGACTCATGGTGACAAACCACAGAGGCTTCAAATGAAAAGTGGGGCCCCTGAGAGACAGGACAGTCAGGAAAGGAAGGAGCTTTTTCTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTCTCGCCCAGAGTGGACTGCAGTCGTGCTATCTCAGCTCACTGCAACTTCCGCCTCCTGGATTCAAGCTATTCTCCTACCTCAGCCTCCCGAGTAGCTGGAATTACAATTATGCGCCACCCTGCTCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGCCAGGCTGGTCTCAAACCCCTGACCTCAGGTGATCTGCCTGCCTCACCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCGGAAGGAGCTTTTTCTAATCTCTTTTGTCATACGCCCTTATCACCCAGTCTAGAAACAGATAAAACATTGTAAAATTTCCTCAACCCTGGCTGGGCGCGATGGCTCATGCCTGTGATTCCTGAACTTTGAGAGGCCGGGGTGGGTGGATCACTTGAGGTAAGGAGTTCGAGACCAGCCTGGCCATCATGGTGAAACCCCATCTCCACTAAAAATACAAAAATTAGCCAGTTTTGGTGACATACGCCTGCAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTGAACCCGTGCGGCAGAGGTTGCAGTGAGCTGCGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCTGTCAAAAAAAAAAAAAAATTTCCTCATCCCCATTCCCAGCTAACCCTCCAGAAGCAGCCTTTGTAAAGTTTCCTGTAGCCAGGCGCAGCAGCTCATACCTCTATTCCCAACTATTCAGGAGGCTGAGGTGGGAGGATGGCTTGAGCCTGGGAAGTTGAGGCTGCAGTGAGCCATGGTGACACCACTGCACTGCAGCCTGGGCGACAGCAAGATCGTGTCTCTAAATAAATTTAAAAAATAGAAAAGTTTTCCTGTGAAGTCTTCCAGAAAGTTCCTGTGCACATACACATCTGTCATCTCCTCTTTGAAACACGTACACATGTGCACATGCACACAGGTTGGTTTTCTCCCTGCTCCTCTGAAGCTTATTTCCACCTGGAAGTATGTAAGCAGTGTCCGTGTGTCAGTGACAGTGCATGTAACATGCCTTCTTTTCCTTGTGTGTAGGGTGGTAGGGGTTGCCTCAGAGACCAGCTAAGTTTCCCCACATCAAGCACTTGCCTCAGTGTCTACCCTAGCGGTGATTCTGCAGGGGTGGGTTGGCAGACATCCTCACGTCTGGAGAACGAGGGTGATGCCGGTGTGCCTGTGTGGGCTGTGCATGCTACGAGGGTGATCGTCCAAACTCTTGTCAGCTGTGATCATTTGCTGCTTGTCCTAGGAGCAGTGGCCTCCATGTGTGGCTGGTCAGAGTCCAGTTACTTTGGCCAAGAGCCACTTTCAGACCTGAAAATGGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCATGTGAGGTCGGGAGTTTGAGATCAGCCTGATCAACATGGTGAAACGCCGTCTGTACTAAAAATACAAAAAAATTACCTGGGCGGGCATGGTGGCGAGCACCTGTAATATCAGCTACTGGGGAGGCTGAGGCAGGAGAATCTCTTGAACC 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Task1_train_27016 | This alteration in GPI (glucose-6-phosphate isomerase) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hemolytic anemia due to glucophosphate isomerase deficiency | GGATTTGGTTCTGTTCATGTCTGAGGAGGTAGGATCTGGTGCAGGTATAAGGATCTGGGTCTTTCAATGTCTGAGAAGGTAGGATCTGGTACAGGTGTGAGGATCTGGGTCTGTTAATGTCTGAGGAGGTAGGATCTGGCACTGGTAAGAGGATCTGCATCTGTCAGTTTCTGAGGAGGTAGGATCTGGCCCTAGTAAGAAGATCTCAGTCTGTCAATTTCTGAGGAGGTTGGATCTGGCCCCCTTATGAGGATCTGAGTCTGTCAATATCTGAAGAGGTAGGAATCTGGTACAGGTATGAGGATCTGTGTGTGTGTCAGTGTCTGAGGAATTAGGAATCTGGTACAGGTGTGAGGATCTTCATGTCTCTGTATCTGAGGAAGTAGGATCTGATACAGGTATTAGGATCTGGGTCTATGTCTGAGGAGGTAGCATCTGATACAGGTATGAAGACCTGAGTCTGTCAGTGTCTGAAGTGGTTGGATCTGGCCCTGGTATGAGGATCTGGGTTTGTCAGTATTTGAGGAGGTAGGATCTGTCCCTGGTAGGAGGGTCTGTGTCTTCTAGTGTCTGAAGAAGTAGGATCTGGCCCTGGTATGAGGATCTGGGTCTGTCAGTATCTGAGGAGGTAGGATCTCATACAGGTATGAGGATCTGGGTTTTTCAATGTCTGAGGAGGTAGGATCTGGCACAGGCATGAGCATCTGGGTCTGACCATGTCTAAAGAGTTGAAGCTGTGTGCAGGTATGAGGCCTTGGGTCTGCCAGTGTCTGGGGAGGTGAGGCTGGGCATGGGTGTGAGACCCTGGGTCTGTCCATATCTGAGGAGGTAGGATCTGGTATGAGTATGAGGATCTGGGTGTGTCCGTGTCTGAGGAGGTGGGCCCTGGCACAGGTATGAGGCCTGGGGTCTGTCCGTGTCTGAGGAGGTGGGCCCTGGCGCAGGTATGAGGCCCTGGGTGTGTCCGTGTCTGAGGAGGTGGGCCCTGGCACAGGTATGAGGTCCTGGGTCTGCTGGTGTCTGCAGAGACAGGGCCCGACATCTCAGGGAAGACCACGGTAAGCTCTTCAGTTTGTCTTGTGGCTGTGGTCAGTCATCTGTAGTCTGCCCTGTTGGTCTTCCCATGTGTTGCCAGCACCTGCCTGCTGCCTTGCTTCCTGGAGGTGGGTTGGGCCAGGGCCCTCCGAGACGCCCCTGTGCAAGACCAGGGACAGGGTTTCCGGCAGGAGGTGGGGGGCGGGGTGTGCCGGCCCTCCCTCAGCACCTTGTCCTGTCTCTCCTAGTGGGTGGGAGGACGCTACTCGCTGTGGTCGGCCATCGGACTCTCCATTGCCCTGCACGTGGGTGAGTGTGTTTCTGTGTCTTGCAGCCCCTGTGGGAGACAGTGTTGCAGTCTAAGGTCGGGGTAGGGGGCTTGTGTCCCTGAACATCATGCTGTCCTCACAGGCTGCTGGCCTCTCTGCAGCTGGCTGGGATATTTATTTCATGTCCAGAAGGAAGGTCTGGGTTTTTTTGCGTGTGCAAGTTGGCCCCCGTCTTTGCCCCTCACAACTGCAGTCCTGTTTCTCTCCTATCCTAGGCAGAGTCAGATCCCTGCACTCAGGGCCACCTCTCACTGGAGGGGCTTTGTCTAGGTCCGAGTCCTCCCATGTCGTATCTTCTGGCTCTCCATGCAGCCTTCCTTCGTTGCAGAAGGAGCTGTGCCCACTGCCCACAGGACGCAGGGTGTGGCCACTTCTGTTGACTCTGCTTTTGTGTCACAGGTTTTGACAACTTCGAGCAGCTGCTCTCGGGGGCTCACTGGATGGTGAGTGCTGAGGCTGGTTCTCTGCCAAGTGCTGGCCAGAGGCGCGTGTGTTGGTCCTGGTCCCCCGCTTTCTCCCCCACTGTCCTGTCCCTCCCCTCCCCGTGCAGCTGCTCAGCTCCCACTCATCCTGCTCCTGTTTCAGGACCAGCACTTCCGCACGACGCCCCTGGAGAAGAACGCCCCCGTCTTGCTGGCCCTGCTGGGTATCTGGTACATCAACTGCTTTGGGTGTGAGACACACGCCATGCTGCCCTATGACCAGTACCTGCACCGCTTTGCTGCGTACTTCCAGCAGGTACCAGCTGCCAAGCCAGGCCTTGGAGTCAGCAAGATTTGTGGGGGGTCTGGGAGGTCTAGGAACCTGGGTTTCAGCTCCTCCAGGAGCTCTTTGCCCCATTGCCCTTGGGCCTGGCCAAGGTCCATCTGTGCTCCTTGTCTCAGGATGAATCTTTGTAACTGAGGTTGGTTCCATTTGAGTGTCATCTGAGTTTGATCACCATGGGAGGGGCATGACTGGTGATCATGGTGCCCTGGCTAGGGAGGTCCTGGCTTGACTCAGGGGATGTTTCTCAGCTGGGGTCACTTCTTTCTTGCACATCACTATGCATGCCTACCATAGTGTCTGAGGACGTAGGATCTAGCCCTGGTATGAGGCCCTAGGTCTGTTAGTATCTGGGGAGGAAGGATCTGGTACAGGTATGAGGACCTGGGTCTGTCCATGTCTGAGGAGGTGGGATTTGGCCATAGGGTGGGGCTGCAAGCTGGAATCCCTTATAGCCTGCACTGCCTTTATCCCTCCAGAAAAGCAAGTGTGTATCTAGTCTGTGGTGGCCTCTTTGGACTACATGGCCCTCTTCTCCCTTGGGATCTCCAGAGCCCCCCGAGAGGCTTAGCAGGCCCTCTCCTAGTCACATTATGTCCCAGAAAGCTTTTCCACACCTGTCCCTGCTTTTTTTTTTTTGAACAGATTCTCACTCTGTTTCCCAGGCAGGAGTGCAGTGGCGCGATCTCGGCTCATTGCAACCTCCGCTTCCTGAGTTCAAGCAATTCCTGTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGCATGCACCACCTTGCCTGGCTAATTTTTGTATTTTTAGTGGAAACGGGGTTTCACTATGTTGCCCAGGCTGGTTTCGAACTCCTGGCCTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAACCCTATCCTTGCTTTTGTTTAGTACAAAGCCAGTCCCTGTCCAGCAGCTCTTGAGTTGCTCTGGGCAGGTACAGAAGGCTTCACCAACACCTGGAAGCAAATCCTGTGACTGAAGGAGAGGCCAAGGTTCCCCAAATCCCAGCTGCCTTGGTGAGGGTTGCCATGACCAGGGCCCAGGTGGGTACCCAAAGCCTAGCATTTAGTTGTGGTGACAGCCCTCAAAGGCTGTACTCTTAGCCAGGCATGGTGGCTGATGCCTGCAATCCCAGCACCTTGGGAGGCAGAGGCTGGGGGGAATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACGTAGTGAGGCCCGGTCTCTACAAAAAAAACCCACAAAAACTAACAGTAGCCAGGCATGGTGGTGCGGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAAGAGGCTTGCTTGAGCCCAAGAGGTCGAGGCTTCAGTGAGCAATGATTCTACCACTGTACTCCAGCCTGAGTGACAGAGTGAGACTCTGTCTCTTTGGGAAAAAAAGAAGCTGTGCACTCTGGACCCCAGCCTGCTCTCCCTTAAGAAATGAGCTGATTTTGTGACCGATTTTGTCTTTAGGGAGGTCCTTGCCTGACCTCCAGACCCACCTTTTCCTGGGCATGAGTCCTTCCTGCACAGTGGCTTAAGCAGGAAAGGTTGGGAGGCTGTGTCCTCACTGGTGTGGGGAGGAAGGGGATCGTGCCTGTGGACACGTGTGCAGGTCCACCTCACGGTGTCAGGGCAGGGTGGGTCTGCCTGGAGCATCTGGGCAGGACTTTGGCATGGTGCAGGAAGGAGCAGGATTTGCGTACAGTGTGTGAAGGATCAAGACTTGCAGGAAGAGGGTTGGGTTTTTTTTCTTTCTTTTCCTTTCTTTTCCTTTTTTTTTTTTTTTCTTTTTTTTTGAGTTGGAGTTTTGCTCTTGTTGCCCAGTCTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCT 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GGATTTGGTTCTGTTCATGTCTGAGGAGGTAGGATCTGGTGCAGGTATAAGGATCTGGGTCTTTCAATGTCTGAGAAGGTAGGATCTGGTACAGGTGTGAGGATCTGGGTCTGTTAATGTCTGAGGAGGTAGGATCTGGCACTGGTAAGAGGATCTGCATCTGTCAGTTTCTGAGGAGGTAGGATCTGGCCCTAGTAAGAAGATCTCAGTCTGTCAATTTCTGAGGAGGTTGGATCTGGCCCCCTTATGAGGATCTGAGTCTGTCAATATCTGAAGAGGTAGGAATCTGGTACAGGTATGAGGATCTGTGTGTGTGTCAGTGTCTGAGGAATTAGGAATCTGGTACAGGTGTGAGGATCTTCATGTCTCTGTATCTGAGGAAGTAGGATCTGATACAGGTATTAGGATCTGGGTCTATGTCTGAGGAGGTAGCATCTGATACAGGTATGAAGACCTGAGTCTGTCAGTGTCTGAAGTGGTTGGATCTGGCCCTGGTATGAGGATCTGGGTTTGTCAGTATTTGAGGAGGTAGGATCTGTCCCTGGTAGGAGGGTCTGTGTCTTCTAGTGTCTGAAGAAGTAGGATCTGGCCCTGGTATGAGGATCTGGGTCTGTCAGTATCTGAGGAGGTAGGATCTCATACAGGTATGAGGATCTGGGTTTTTCAATGTCTGAGGAGGTAGGATCTGGCACAGGCATGAGCATCTGGGTCTGACCATGTCTAAAGAGTTGAAGCTGTGTGCAGGTATGAGGCCTTGGGTCTGCCAGTGTCTGGGGAGGTGAGGCTGGGCATGGGTGTGAGACCCTGGGTCTGTCCATATCTGAGGAGGTAGGATCTGGTATGAGTATGAGGATCTGGGTGTGTCCGTGTCTGAGGAGGTGGGCCCTGGCACAGGTATGAGGCCTGGGGTCTGTCCGTGTCTGAGGAGGTGGGCCCTGGCGCAGGTATGAGGCCCTGGGTGTGTCCGTGTCTGAGGAGGTGGGCCCTGGCACAGGTATGAGGTCCTGGGTCTGCTGGTGTCTGCAGAGACAGGGCCCGACATCTCAGGGAAGACCACGGTAAGCTCTTCAGTTTGTCTTGTGGCTGTGGTCAGTCATCTGTAGTCTGCCCTGTTGGTCTTCCCATGTGTTGCCAGCACCTGCCTGCTGCCTTGCTTCCTGGAGGTGGGTTGGGCCAGGGCCCTCCGAGACGCCCCTGTGCAAGACCAGGGACAGGGTTTCCGGCAGGAGGTGGGGGGCGGGGTGTGCCGGCCCTCCCTCAGCACCTTGTCCTGTCTCTCCTAGTGGGTGGGAGGACGCTACTCGCTGTGGTCGGCCATCGGACTCTCCATTGCCCTGCACGTGGGTGAGTGTGTTTCTGTGTCTTGCAGCCCCTGTGGGAGACAGTGTTGCAGTCTAAGGTCGGGGTAGGGGGCTTGTGTCCCTGAACATCATGCTGTCCTCACAGGCTGCTGGCCTCTCTGCAGCTGGCTGGGATATTTATTTCATGTCCAGAAGGAAGGTCTGGGTTTTTTTGCGTGTGCAAGTTGGCCCCCGTCTTTGCCCCTCACAACTGCAGTCCTGTTTCTCTCCTATCCTAGGCAGAGTCAGATCCCTGCACTCAGGGCCACCTCTCACTGGAGGGGCTTTGTCTAGGTCCGAGTCCTCCCATGTCGTATCTTCTGGCTCTCCATGCAGCCTTCCTTCGTTGCAGAAGGAGCTGTGCCCACTGCCCACAGGACGCAGGGTGTGGCCACTTCTGTTGACTCTGCTTTTGTGTCACAGGTTTTGACAACTTCGAGCAGCTGCTCTCGGGGGCTCACTGGATGGTGAGTGCTGAGGCTGGTTCTCTGCCAAGTGCTGGCCAGAGGCGCGTGTGTTGGTCCTGGTCCCCCGCTTTCTCCCCCACTGTCCTGTCCCTCCCCTCCCCGTGCAGCTGCTCAGCTCCCACTCATCCTGCTCCTGTTTCAGGACCAGCACTTCCGCACGACGCCCCTGGAGAAGAACGCCCCCGTCTTGCTGGCCCTGCTGGGTATCTGGTACATCAACTGCTTTGGGTGTGAGACACACACCATGCTGCCCTATGACCAGTACCTGCACCGCTTTGCTGCGTACTTCCAGCAGGTACCAGCTGCCAAGCCAGGCCTTGGAGTCAGCAAGATTTGTGGGGGGTCTGGGAGGTCTAGGAACCTGGGTTTCAGCTCCTCCAGGAGCTCTTTGCCCCATTGCCCTTGGGCCTGGCCAAGGTCCATCTGTGCTCCTTGTCTCAGGATGAATCTTTGTAACTGAGGTTGGTTCCATTTGAGTGTCATCTGAGTTTGATCACCATGGGAGGGGCATGACTGGTGATCATGGTGCCCTGGCTAGGGAGGTCCTGGCTTGACTCAGGGGATGTTTCTCAGCTGGGGTCACTTCTTTCTTGCACATCACTATGCATGCCTACCATAGTGTCTGAGGACGTAGGATCTAGCCCTGGTATGAGGCCCTAGGTCTGTTAGTATCTGGGGAGGAAGGATCTGGTACAGGTATGAGGACCTGGGTCTGTCCATGTCTGAGGAGGTGGGATTTGGCCATAGGGTGGGGCTGCAAGCTGGAATCCCTTATAGCCTGCACTGCCTTTATCCCTCCAGAAAAGCAAGTGTGTATCTAGTCTGTGGTGGCCTCTTTGGACTACATGGCCCTCTTCTCCCTTGGGATCTCCAGAGCCCCCCGAGAGGCTTAGCAGGCCCTCTCCTAGTCACATTATGTCCCAGAAAGCTTTTCCACACCTGTCCCTGCTTTTTTTTTTTTGAACAGATTCTCACTCTGTTTCCCAGGCAGGAGTGCAGTGGCGCGATCTCGGCTCATTGCAACCTCCGCTTCCTGAGTTCAAGCAATTCCTGTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGCATGCACCACCTTGCCTGGCTAATTTTTGTATTTTTAGTGGAAACGGGGTTTCACTATGTTGCCCAGGCTGGTTTCGAACTCCTGGCCTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAACCCTATCCTTGCTTTTGTTTAGTACAAAGCCAGTCCCTGTCCAGCAGCTCTTGAGTTGCTCTGGGCAGGTACAGAAGGCTTCACCAACACCTGGAAGCAAATCCTGTGACTGAAGGAGAGGCCAAGGTTCCCCAAATCCCAGCTGCCTTGGTGAGGGTTGCCATGACCAGGGCCCAGGTGGGTACCCAAAGCCTAGCATTTAGTTGTGGTGACAGCCCTCAAAGGCTGTACTCTTAGCCAGGCATGGTGGCTGATGCCTGCAATCCCAGCACCTTGGGAGGCAGAGGCTGGGGGGAATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACGTAGTGAGGCCCGGTCTCTACAAAAAAAACCCACAAAAACTAACAGTAGCCAGGCATGGTGGTGCGGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAAGAGGCTTGCTTGAGCCCAAGAGGTCGAGGCTTCAGTGAGCAATGATTCTACCACTGTACTCCAGCCTGAGTGACAGAGTGAGACTCTGTCTCTTTGGGAAAAAAAGAAGCTGTGCACTCTGGACCCCAGCCTGCTCTCCCTTAAGAAATGAGCTGATTTTGTGACCGATTTTGTCTTTAGGGAGGTCCTTGCCTGACCTCCAGACCCACCTTTTCCTGGGCATGAGTCCTTCCTGCACAGTGGCTTAAGCAGGAAAGGTTGGGAGGCTGTGTCCTCACTGGTGTGGGGAGGAAGGGGATCGTGCCTGTGGACACGTGTGCAGGTCCACCTCACGGTGTCAGGGCAGGGTGGGTCTGCCTGGAGCATCTGGGCAGGACTTTGGCATGGTGCAGGAAGGAGCAGGATTTGCGTACAGTGTGTGAAGGATCAAGACTTGCAGGAAGAGGGTTGGGTTTTTTTTCTTTCTTTTCCTTTCTTTTCCTTTTTTTTTTTTTTTCTTTTTTTTTGAGTTGGAGTTTTGCTCTTGTTGCCCAGTCTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCT 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Task1_train_27017 | A variant on Chromosome 19 in gene GPI (glucose-6-phosphate isomerase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hemolytic anemia due to glucophosphate isomerase deficiency | GTTCTGTTCATGTCTGAGGAGGTAGGATCTGGTGCAGGTATAAGGATCTGGGTCTTTCAATGTCTGAGAAGGTAGGATCTGGTACAGGTGTGAGGATCTGGGTCTGTTAATGTCTGAGGAGGTAGGATCTGGCACTGGTAAGAGGATCTGCATCTGTCAGTTTCTGAGGAGGTAGGATCTGGCCCTAGTAAGAAGATCTCAGTCTGTCAATTTCTGAGGAGGTTGGATCTGGCCCCCTTATGAGGATCTGAGTCTGTCAATATCTGAAGAGGTAGGAATCTGGTACAGGTATGAGGATCTGTGTGTGTGTCAGTGTCTGAGGAATTAGGAATCTGGTACAGGTGTGAGGATCTTCATGTCTCTGTATCTGAGGAAGTAGGATCTGATACAGGTATTAGGATCTGGGTCTATGTCTGAGGAGGTAGCATCTGATACAGGTATGAAGACCTGAGTCTGTCAGTGTCTGAAGTGGTTGGATCTGGCCCTGGTATGAGGATCTGGGTTTGTCAGTATTTGAGGAGGTAGGATCTGTCCCTGGTAGGAGGGTCTGTGTCTTCTAGTGTCTGAAGAAGTAGGATCTGGCCCTGGTATGAGGATCTGGGTCTGTCAGTATCTGAGGAGGTAGGATCTCATACAGGTATGAGGATCTGGGTTTTTCAATGTCTGAGGAGGTAGGATCTGGCACAGGCATGAGCATCTGGGTCTGACCATGTCTAAAGAGTTGAAGCTGTGTGCAGGTATGAGGCCTTGGGTCTGCCAGTGTCTGGGGAGGTGAGGCTGGGCATGGGTGTGAGACCCTGGGTCTGTCCATATCTGAGGAGGTAGGATCTGGTATGAGTATGAGGATCTGGGTGTGTCCGTGTCTGAGGAGGTGGGCCCTGGCACAGGTATGAGGCCTGGGGTCTGTCCGTGTCTGAGGAGGTGGGCCCTGGCGCAGGTATGAGGCCCTGGGTGTGTCCGTGTCTGAGGAGGTGGGCCCTGGCACAGGTATGAGGTCCTGGGTCTGCTGGTGTCTGCAGAGACAGGGCCCGACATCTCAGGGAAGACCACGGTAAGCTCTTCAGTTTGTCTTGTGGCTGTGGTCAGTCATCTGTAGTCTGCCCTGTTGGTCTTCCCATGTGTTGCCAGCACCTGCCTGCTGCCTTGCTTCCTGGAGGTGGGTTGGGCCAGGGCCCTCCGAGACGCCCCTGTGCAAGACCAGGGACAGGGTTTCCGGCAGGAGGTGGGGGGCGGGGTGTGCCGGCCCTCCCTCAGCACCTTGTCCTGTCTCTCCTAGTGGGTGGGAGGACGCTACTCGCTGTGGTCGGCCATCGGACTCTCCATTGCCCTGCACGTGGGTGAGTGTGTTTCTGTGTCTTGCAGCCCCTGTGGGAGACAGTGTTGCAGTCTAAGGTCGGGGTAGGGGGCTTGTGTCCCTGAACATCATGCTGTCCTCACAGGCTGCTGGCCTCTCTGCAGCTGGCTGGGATATTTATTTCATGTCCAGAAGGAAGGTCTGGGTTTTTTTGCGTGTGCAAGTTGGCCCCCGTCTTTGCCCCTCACAACTGCAGTCCTGTTTCTCTCCTATCCTAGGCAGAGTCAGATCCCTGCACTCAGGGCCACCTCTCACTGGAGGGGCTTTGTCTAGGTCCGAGTCCTCCCATGTCGTATCTTCTGGCTCTCCATGCAGCCTTCCTTCGTTGCAGAAGGAGCTGTGCCCACTGCCCACAGGACGCAGGGTGTGGCCACTTCTGTTGACTCTGCTTTTGTGTCACAGGTTTTGACAACTTCGAGCAGCTGCTCTCGGGGGCTCACTGGATGGTGAGTGCTGAGGCTGGTTCTCTGCCAAGTGCTGGCCAGAGGCGCGTGTGTTGGTCCTGGTCCCCCGCTTTCTCCCCCACTGTCCTGTCCCTCCCCTCCCCGTGCAGCTGCTCAGCTCCCACTCATCCTGCTCCTGTTTCAGGACCAGCACTTCCGCACGACGCCCCTGGAGAAGAACGCCCCCGTCTTGCTGGCCCTGCTGGGTATCTGGTACATCAACTGCTTTGGGTGTGAGACACACGCCATGCTGCCCTATGACCAGTACCTGCACCGCTTTGCTGCGTACTTCCAGCAGGTACCAGCTGCCAAGCCAGGCCTTGGAGTCAGCAAGATTTGTGGGGGGTCTGGGAGGTCTAGGAACCTGGGTTTCAGCTCCTCCAGGAGCTCTTTGCCCCATTGCCCTTGGGCCTGGCCAAGGTCCATCTGTGCTCCTTGTCTCAGGATGAATCTTTGTAACTGAGGTTGGTTCCATTTGAGTGTCATCTGAGTTTGATCACCATGGGAGGGGCATGACTGGTGATCATGGTGCCCTGGCTAGGGAGGTCCTGGCTTGACTCAGGGGATGTTTCTCAGCTGGGGTCACTTCTTTCTTGCACATCACTATGCATGCCTACCATAGTGTCTGAGGACGTAGGATCTAGCCCTGGTATGAGGCCCTAGGTCTGTTAGTATCTGGGGAGGAAGGATCTGGTACAGGTATGAGGACCTGGGTCTGTCCATGTCTGAGGAGGTGGGATTTGGCCATAGGGTGGGGCTGCAAGCTGGAATCCCTTATAGCCTGCACTGCCTTTATCCCTCCAGAAAAGCAAGTGTGTATCTAGTCTGTGGTGGCCTCTTTGGACTACATGGCCCTCTTCTCCCTTGGGATCTCCAGAGCCCCCCGAGAGGCTTAGCAGGCCCTCTCCTAGTCACATTATGTCCCAGAAAGCTTTTCCACACCTGTCCCTGCTTTTTTTTTTTTGAACAGATTCTCACTCTGTTTCCCAGGCAGGAGTGCAGTGGCGCGATCTCGGCTCATTGCAACCTCCGCTTCCTGAGTTCAAGCAATTCCTGTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGCATGCACCACCTTGCCTGGCTAATTTTTGTATTTTTAGTGGAAACGGGGTTTCACTATGTTGCCCAGGCTGGTTTCGAACTCCTGGCCTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAACCCTATCCTTGCTTTTGTTTAGTACAAAGCCAGTCCCTGTCCAGCAGCTCTTGAGTTGCTCTGGGCAGGTACAGAAGGCTTCACCAACACCTGGAAGCAAATCCTGTGACTGAAGGAGAGGCCAAGGTTCCCCAAATCCCAGCTGCCTTGGTGAGGGTTGCCATGACCAGGGCCCAGGTGGGTACCCAAAGCCTAGCATTTAGTTGTGGTGACAGCCCTCAAAGGCTGTACTCTTAGCCAGGCATGGTGGCTGATGCCTGCAATCCCAGCACCTTGGGAGGCAGAGGCTGGGGGGAATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACGTAGTGAGGCCCGGTCTCTACAAAAAAAACCCACAAAAACTAACAGTAGCCAGGCATGGTGGTGCGGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAAGAGGCTTGCTTGAGCCCAAGAGGTCGAGGCTTCAGTGAGCAATGATTCTACCACTGTACTCCAGCCTGAGTGACAGAGTGAGACTCTGTCTCTTTGGGAAAAAAAGAAGCTGTGCACTCTGGACCCCAGCCTGCTCTCCCTTAAGAAATGAGCTGATTTTGTGACCGATTTTGTCTTTAGGGAGGTCCTTGCCTGACCTCCAGACCCACCTTTTCCTGGGCATGAGTCCTTCCTGCACAGTGGCTTAAGCAGGAAAGGTTGGGAGGCTGTGTCCTCACTGGTGTGGGGAGGAAGGGGATCGTGCCTGTGGACACGTGTGCAGGTCCACCTCACGGTGTCAGGGCAGGGTGGGTCTGCCTGGAGCATCTGGGCAGGACTTTGGCATGGTGCAGGAAGGAGCAGGATTTGCGTACAGTGTGTGAAGGATCAAGACTTGCAGGAAGAGGGTTGGGTTTTTTTTCTTTCTTTTCCTTTCTTTTCCTTTTTTTTTTTTTTTCTTTTTTTTTGAGTTGGAGTTTTGCTCTTGTTGCCCAGTCTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGC 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GTTCTGTTCATGTCTGAGGAGGTAGGATCTGGTGCAGGTATAAGGATCTGGGTCTTTCAATGTCTGAGAAGGTAGGATCTGGTACAGGTGTGAGGATCTGGGTCTGTTAATGTCTGAGGAGGTAGGATCTGGCACTGGTAAGAGGATCTGCATCTGTCAGTTTCTGAGGAGGTAGGATCTGGCCCTAGTAAGAAGATCTCAGTCTGTCAATTTCTGAGGAGGTTGGATCTGGCCCCCTTATGAGGATCTGAGTCTGTCAATATCTGAAGAGGTAGGAATCTGGTACAGGTATGAGGATCTGTGTGTGTGTCAGTGTCTGAGGAATTAGGAATCTGGTACAGGTGTGAGGATCTTCATGTCTCTGTATCTGAGGAAGTAGGATCTGATACAGGTATTAGGATCTGGGTCTATGTCTGAGGAGGTAGCATCTGATACAGGTATGAAGACCTGAGTCTGTCAGTGTCTGAAGTGGTTGGATCTGGCCCTGGTATGAGGATCTGGGTTTGTCAGTATTTGAGGAGGTAGGATCTGTCCCTGGTAGGAGGGTCTGTGTCTTCTAGTGTCTGAAGAAGTAGGATCTGGCCCTGGTATGAGGATCTGGGTCTGTCAGTATCTGAGGAGGTAGGATCTCATACAGGTATGAGGATCTGGGTTTTTCAATGTCTGAGGAGGTAGGATCTGGCACAGGCATGAGCATCTGGGTCTGACCATGTCTAAAGAGTTGAAGCTGTGTGCAGGTATGAGGCCTTGGGTCTGCCAGTGTCTGGGGAGGTGAGGCTGGGCATGGGTGTGAGACCCTGGGTCTGTCCATATCTGAGGAGGTAGGATCTGGTATGAGTATGAGGATCTGGGTGTGTCCGTGTCTGAGGAGGTGGGCCCTGGCACAGGTATGAGGCCTGGGGTCTGTCCGTGTCTGAGGAGGTGGGCCCTGGCGCAGGTATGAGGCCCTGGGTGTGTCCGTGTCTGAGGAGGTGGGCCCTGGCACAGGTATGAGGTCCTGGGTCTGCTGGTGTCTGCAGAGACAGGGCCCGACATCTCAGGGAAGACCACGGTAAGCTCTTCAGTTTGTCTTGTGGCTGTGGTCAGTCATCTGTAGTCTGCCCTGTTGGTCTTCCCATGTGTTGCCAGCACCTGCCTGCTGCCTTGCTTCCTGGAGGTGGGTTGGGCCAGGGCCCTCCGAGACGCCCCTGTGCAAGACCAGGGACAGGGTTTCCGGCAGGAGGTGGGGGGCGGGGTGTGCCGGCCCTCCCTCAGCACCTTGTCCTGTCTCTCCTAGTGGGTGGGAGGACGCTACTCGCTGTGGTCGGCCATCGGACTCTCCATTGCCCTGCACGTGGGTGAGTGTGTTTCTGTGTCTTGCAGCCCCTGTGGGAGACAGTGTTGCAGTCTAAGGTCGGGGTAGGGGGCTTGTGTCCCTGAACATCATGCTGTCCTCACAGGCTGCTGGCCTCTCTGCAGCTGGCTGGGATATTTATTTCATGTCCAGAAGGAAGGTCTGGGTTTTTTTGCGTGTGCAAGTTGGCCCCCGTCTTTGCCCCTCACAACTGCAGTCCTGTTTCTCTCCTATCCTAGGCAGAGTCAGATCCCTGCACTCAGGGCCACCTCTCACTGGAGGGGCTTTGTCTAGGTCCGAGTCCTCCCATGTCGTATCTTCTGGCTCTCCATGCAGCCTTCCTTCGTTGCAGAAGGAGCTGTGCCCACTGCCCACAGGACGCAGGGTGTGGCCACTTCTGTTGACTCTGCTTTTGTGTCACAGGTTTTGACAACTTCGAGCAGCTGCTCTCGGGGGCTCACTGGATGGTGAGTGCTGAGGCTGGTTCTCTGCCAAGTGCTGGCCAGAGGCGCGTGTGTTGGTCCTGGTCCCCCGCTTTCTCCCCCACTGTCCTGTCCCTCCCCTCCCCGTGCAGCTGCTCAGCTCCCACTCATCCTGCTCCTGTTTCAGGACCAGCACTTCCGCACGACGCCCCTGGAGAAGAACGCCCCCGTCTTGCTGGCCCTGCTGGGTATCTGGTACATCAACTGCTTTGGGTGTGAGACACACGCCATGCCGCCCTATGACCAGTACCTGCACCGCTTTGCTGCGTACTTCCAGCAGGTACCAGCTGCCAAGCCAGGCCTTGGAGTCAGCAAGATTTGTGGGGGGTCTGGGAGGTCTAGGAACCTGGGTTTCAGCTCCTCCAGGAGCTCTTTGCCCCATTGCCCTTGGGCCTGGCCAAGGTCCATCTGTGCTCCTTGTCTCAGGATGAATCTTTGTAACTGAGGTTGGTTCCATTTGAGTGTCATCTGAGTTTGATCACCATGGGAGGGGCATGACTGGTGATCATGGTGCCCTGGCTAGGGAGGTCCTGGCTTGACTCAGGGGATGTTTCTCAGCTGGGGTCACTTCTTTCTTGCACATCACTATGCATGCCTACCATAGTGTCTGAGGACGTAGGATCTAGCCCTGGTATGAGGCCCTAGGTCTGTTAGTATCTGGGGAGGAAGGATCTGGTACAGGTATGAGGACCTGGGTCTGTCCATGTCTGAGGAGGTGGGATTTGGCCATAGGGTGGGGCTGCAAGCTGGAATCCCTTATAGCCTGCACTGCCTTTATCCCTCCAGAAAAGCAAGTGTGTATCTAGTCTGTGGTGGCCTCTTTGGACTACATGGCCCTCTTCTCCCTTGGGATCTCCAGAGCCCCCCGAGAGGCTTAGCAGGCCCTCTCCTAGTCACATTATGTCCCAGAAAGCTTTTCCACACCTGTCCCTGCTTTTTTTTTTTTGAACAGATTCTCACTCTGTTTCCCAGGCAGGAGTGCAGTGGCGCGATCTCGGCTCATTGCAACCTCCGCTTCCTGAGTTCAAGCAATTCCTGTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGCATGCACCACCTTGCCTGGCTAATTTTTGTATTTTTAGTGGAAACGGGGTTTCACTATGTTGCCCAGGCTGGTTTCGAACTCCTGGCCTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAACCCTATCCTTGCTTTTGTTTAGTACAAAGCCAGTCCCTGTCCAGCAGCTCTTGAGTTGCTCTGGGCAGGTACAGAAGGCTTCACCAACACCTGGAAGCAAATCCTGTGACTGAAGGAGAGGCCAAGGTTCCCCAAATCCCAGCTGCCTTGGTGAGGGTTGCCATGACCAGGGCCCAGGTGGGTACCCAAAGCCTAGCATTTAGTTGTGGTGACAGCCCTCAAAGGCTGTACTCTTAGCCAGGCATGGTGGCTGATGCCTGCAATCCCAGCACCTTGGGAGGCAGAGGCTGGGGGGAATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACGTAGTGAGGCCCGGTCTCTACAAAAAAAACCCACAAAAACTAACAGTAGCCAGGCATGGTGGTGCGGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAAGAGGCTTGCTTGAGCCCAAGAGGTCGAGGCTTCAGTGAGCAATGATTCTACCACTGTACTCCAGCCTGAGTGACAGAGTGAGACTCTGTCTCTTTGGGAAAAAAAGAAGCTGTGCACTCTGGACCCCAGCCTGCTCTCCCTTAAGAAATGAGCTGATTTTGTGACCGATTTTGTCTTTAGGGAGGTCCTTGCCTGACCTCCAGACCCACCTTTTCCTGGGCATGAGTCCTTCCTGCACAGTGGCTTAAGCAGGAAAGGTTGGGAGGCTGTGTCCTCACTGGTGTGGGGAGGAAGGGGATCGTGCCTGTGGACACGTGTGCAGGTCCACCTCACGGTGTCAGGGCAGGGTGGGTCTGCCTGGAGCATCTGGGCAGGACTTTGGCATGGTGCAGGAAGGAGCAGGATTTGCGTACAGTGTGTGAAGGATCAAGACTTGCAGGAAGAGGGTTGGGTTTTTTTTCTTTCTTTTCCTTTCTTTTCCTTTTTTTTTTTTTTTCTTTTTTTTTGAGTTGGAGTTTTGCTCTTGTTGCCCAGTCTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGC 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Task1_train_27018 | Here is a variant affecting GPI (glucose-6-phosphate isomerase) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hemolytic anemia due to glucophosphate isomerase deficiency | TCTGAGGAGGTAGGATCTGGTGCAGGTATAAGGATCTGGGTCTTTCAATGTCTGAGAAGGTAGGATCTGGTACAGGTGTGAGGATCTGGGTCTGTTAATGTCTGAGGAGGTAGGATCTGGCACTGGTAAGAGGATCTGCATCTGTCAGTTTCTGAGGAGGTAGGATCTGGCCCTAGTAAGAAGATCTCAGTCTGTCAATTTCTGAGGAGGTTGGATCTGGCCCCCTTATGAGGATCTGAGTCTGTCAATATCTGAAGAGGTAGGAATCTGGTACAGGTATGAGGATCTGTGTGTGTGTCAGTGTCTGAGGAATTAGGAATCTGGTACAGGTGTGAGGATCTTCATGTCTCTGTATCTGAGGAAGTAGGATCTGATACAGGTATTAGGATCTGGGTCTATGTCTGAGGAGGTAGCATCTGATACAGGTATGAAGACCTGAGTCTGTCAGTGTCTGAAGTGGTTGGATCTGGCCCTGGTATGAGGATCTGGGTTTGTCAGTATTTGAGGAGGTAGGATCTGTCCCTGGTAGGAGGGTCTGTGTCTTCTAGTGTCTGAAGAAGTAGGATCTGGCCCTGGTATGAGGATCTGGGTCTGTCAGTATCTGAGGAGGTAGGATCTCATACAGGTATGAGGATCTGGGTTTTTCAATGTCTGAGGAGGTAGGATCTGGCACAGGCATGAGCATCTGGGTCTGACCATGTCTAAAGAGTTGAAGCTGTGTGCAGGTATGAGGCCTTGGGTCTGCCAGTGTCTGGGGAGGTGAGGCTGGGCATGGGTGTGAGACCCTGGGTCTGTCCATATCTGAGGAGGTAGGATCTGGTATGAGTATGAGGATCTGGGTGTGTCCGTGTCTGAGGAGGTGGGCCCTGGCACAGGTATGAGGCCTGGGGTCTGTCCGTGTCTGAGGAGGTGGGCCCTGGCGCAGGTATGAGGCCCTGGGTGTGTCCGTGTCTGAGGAGGTGGGCCCTGGCACAGGTATGAGGTCCTGGGTCTGCTGGTGTCTGCAGAGACAGGGCCCGACATCTCAGGGAAGACCACGGTAAGCTCTTCAGTTTGTCTTGTGGCTGTGGTCAGTCATCTGTAGTCTGCCCTGTTGGTCTTCCCATGTGTTGCCAGCACCTGCCTGCTGCCTTGCTTCCTGGAGGTGGGTTGGGCCAGGGCCCTCCGAGACGCCCCTGTGCAAGACCAGGGACAGGGTTTCCGGCAGGAGGTGGGGGGCGGGGTGTGCCGGCCCTCCCTCAGCACCTTGTCCTGTCTCTCCTAGTGGGTGGGAGGACGCTACTCGCTGTGGTCGGCCATCGGACTCTCCATTGCCCTGCACGTGGGTGAGTGTGTTTCTGTGTCTTGCAGCCCCTGTGGGAGACAGTGTTGCAGTCTAAGGTCGGGGTAGGGGGCTTGTGTCCCTGAACATCATGCTGTCCTCACAGGCTGCTGGCCTCTCTGCAGCTGGCTGGGATATTTATTTCATGTCCAGAAGGAAGGTCTGGGTTTTTTTGCGTGTGCAAGTTGGCCCCCGTCTTTGCCCCTCACAACTGCAGTCCTGTTTCTCTCCTATCCTAGGCAGAGTCAGATCCCTGCACTCAGGGCCACCTCTCACTGGAGGGGCTTTGTCTAGGTCCGAGTCCTCCCATGTCGTATCTTCTGGCTCTCCATGCAGCCTTCCTTCGTTGCAGAAGGAGCTGTGCCCACTGCCCACAGGACGCAGGGTGTGGCCACTTCTGTTGACTCTGCTTTTGTGTCACAGGTTTTGACAACTTCGAGCAGCTGCTCTCGGGGGCTCACTGGATGGTGAGTGCTGAGGCTGGTTCTCTGCCAAGTGCTGGCCAGAGGCGCGTGTGTTGGTCCTGGTCCCCCGCTTTCTCCCCCACTGTCCTGTCCCTCCCCTCCCCGTGCAGCTGCTCAGCTCCCACTCATCCTGCTCCTGTTTCAGGACCAGCACTTCCGCACGACGCCCCTGGAGAAGAACGCCCCCGTCTTGCTGGCCCTGCTGGGTATCTGGTACATCAACTGCTTTGGGTGTGAGACACACGCCATGCTGCCCTATGACCAGTACCTGCACCGCTTTGCTGCGTACTTCCAGCAGGTACCAGCTGCCAAGCCAGGCCTTGGAGTCAGCAAGATTTGTGGGGGGTCTGGGAGGTCTAGGAACCTGGGTTTCAGCTCCTCCAGGAGCTCTTTGCCCCATTGCCCTTGGGCCTGGCCAAGGTCCATCTGTGCTCCTTGTCTCAGGATGAATCTTTGTAACTGAGGTTGGTTCCATTTGAGTGTCATCTGAGTTTGATCACCATGGGAGGGGCATGACTGGTGATCATGGTGCCCTGGCTAGGGAGGTCCTGGCTTGACTCAGGGGATGTTTCTCAGCTGGGGTCACTTCTTTCTTGCACATCACTATGCATGCCTACCATAGTGTCTGAGGACGTAGGATCTAGCCCTGGTATGAGGCCCTAGGTCTGTTAGTATCTGGGGAGGAAGGATCTGGTACAGGTATGAGGACCTGGGTCTGTCCATGTCTGAGGAGGTGGGATTTGGCCATAGGGTGGGGCTGCAAGCTGGAATCCCTTATAGCCTGCACTGCCTTTATCCCTCCAGAAAAGCAAGTGTGTATCTAGTCTGTGGTGGCCTCTTTGGACTACATGGCCCTCTTCTCCCTTGGGATCTCCAGAGCCCCCCGAGAGGCTTAGCAGGCCCTCTCCTAGTCACATTATGTCCCAGAAAGCTTTTCCACACCTGTCCCTGCTTTTTTTTTTTTGAACAGATTCTCACTCTGTTTCCCAGGCAGGAGTGCAGTGGCGCGATCTCGGCTCATTGCAACCTCCGCTTCCTGAGTTCAAGCAATTCCTGTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGCATGCACCACCTTGCCTGGCTAATTTTTGTATTTTTAGTGGAAACGGGGTTTCACTATGTTGCCCAGGCTGGTTTCGAACTCCTGGCCTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAACCCTATCCTTGCTTTTGTTTAGTACAAAGCCAGTCCCTGTCCAGCAGCTCTTGAGTTGCTCTGGGCAGGTACAGAAGGCTTCACCAACACCTGGAAGCAAATCCTGTGACTGAAGGAGAGGCCAAGGTTCCCCAAATCCCAGCTGCCTTGGTGAGGGTTGCCATGACCAGGGCCCAGGTGGGTACCCAAAGCCTAGCATTTAGTTGTGGTGACAGCCCTCAAAGGCTGTACTCTTAGCCAGGCATGGTGGCTGATGCCTGCAATCCCAGCACCTTGGGAGGCAGAGGCTGGGGGGAATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACGTAGTGAGGCCCGGTCTCTACAAAAAAAACCCACAAAAACTAACAGTAGCCAGGCATGGTGGTGCGGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAAGAGGCTTGCTTGAGCCCAAGAGGTCGAGGCTTCAGTGAGCAATGATTCTACCACTGTACTCCAGCCTGAGTGACAGAGTGAGACTCTGTCTCTTTGGGAAAAAAAGAAGCTGTGCACTCTGGACCCCAGCCTGCTCTCCCTTAAGAAATGAGCTGATTTTGTGACCGATTTTGTCTTTAGGGAGGTCCTTGCCTGACCTCCAGACCCACCTTTTCCTGGGCATGAGTCCTTCCTGCACAGTGGCTTAAGCAGGAAAGGTTGGGAGGCTGTGTCCTCACTGGTGTGGGGAGGAAGGGGATCGTGCCTGTGGACACGTGTGCAGGTCCACCTCACGGTGTCAGGGCAGGGTGGGTCTGCCTGGAGCATCTGGGCAGGACTTTGGCATGGTGCAGGAAGGAGCAGGATTTGCGTACAGTGTGTGAAGGATCAAGACTTGCAGGAAGAGGGTTGGGTTTTTTTTCTTTCTTTTCCTTTCTTTTCCTTTTTTTTTTTTTTTCTTTTTTTTTGAGTTGGAGTTTTGCTCTTGTTGCCCAGTCTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTAC 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TCTGAGGAGGTAGGATCTGGTGCAGGTATAAGGATCTGGGTCTTTCAATGTCTGAGAAGGTAGGATCTGGTACAGGTGTGAGGATCTGGGTCTGTTAATGTCTGAGGAGGTAGGATCTGGCACTGGTAAGAGGATCTGCATCTGTCAGTTTCTGAGGAGGTAGGATCTGGCCCTAGTAAGAAGATCTCAGTCTGTCAATTTCTGAGGAGGTTGGATCTGGCCCCCTTATGAGGATCTGAGTCTGTCAATATCTGAAGAGGTAGGAATCTGGTACAGGTATGAGGATCTGTGTGTGTGTCAGTGTCTGAGGAATTAGGAATCTGGTACAGGTGTGAGGATCTTCATGTCTCTGTATCTGAGGAAGTAGGATCTGATACAGGTATTAGGATCTGGGTCTATGTCTGAGGAGGTAGCATCTGATACAGGTATGAAGACCTGAGTCTGTCAGTGTCTGAAGTGGTTGGATCTGGCCCTGGTATGAGGATCTGGGTTTGTCAGTATTTGAGGAGGTAGGATCTGTCCCTGGTAGGAGGGTCTGTGTCTTCTAGTGTCTGAAGAAGTAGGATCTGGCCCTGGTATGAGGATCTGGGTCTGTCAGTATCTGAGGAGGTAGGATCTCATACAGGTATGAGGATCTGGGTTTTTCAATGTCTGAGGAGGTAGGATCTGGCACAGGCATGAGCATCTGGGTCTGACCATGTCTAAAGAGTTGAAGCTGTGTGCAGGTATGAGGCCTTGGGTCTGCCAGTGTCTGGGGAGGTGAGGCTGGGCATGGGTGTGAGACCCTGGGTCTGTCCATATCTGAGGAGGTAGGATCTGGTATGAGTATGAGGATCTGGGTGTGTCCGTGTCTGAGGAGGTGGGCCCTGGCACAGGTATGAGGCCTGGGGTCTGTCCGTGTCTGAGGAGGTGGGCCCTGGCGCAGGTATGAGGCCCTGGGTGTGTCCGTGTCTGAGGAGGTGGGCCCTGGCACAGGTATGAGGTCCTGGGTCTGCTGGTGTCTGCAGAGACAGGGCCCGACATCTCAGGGAAGACCACGGTAAGCTCTTCAGTTTGTCTTGTGGCTGTGGTCAGTCATCTGTAGTCTGCCCTGTTGGTCTTCCCATGTGTTGCCAGCACCTGCCTGCTGCCTTGCTTCCTGGAGGTGGGTTGGGCCAGGGCCCTCCGAGACGCCCCTGTGCAAGACCAGGGACAGGGTTTCCGGCAGGAGGTGGGGGGCGGGGTGTGCCGGCCCTCCCTCAGCACCTTGTCCTGTCTCTCCTAGTGGGTGGGAGGACGCTACTCGCTGTGGTCGGCCATCGGACTCTCCATTGCCCTGCACGTGGGTGAGTGTGTTTCTGTGTCTTGCAGCCCCTGTGGGAGACAGTGTTGCAGTCTAAGGTCGGGGTAGGGGGCTTGTGTCCCTGAACATCATGCTGTCCTCACAGGCTGCTGGCCTCTCTGCAGCTGGCTGGGATATTTATTTCATGTCCAGAAGGAAGGTCTGGGTTTTTTTGCGTGTGCAAGTTGGCCCCCGTCTTTGCCCCTCACAACTGCAGTCCTGTTTCTCTCCTATCCTAGGCAGAGTCAGATCCCTGCACTCAGGGCCACCTCTCACTGGAGGGGCTTTGTCTAGGTCCGAGTCCTCCCATGTCGTATCTTCTGGCTCTCCATGCAGCCTTCCTTCGTTGCAGAAGGAGCTGTGCCCACTGCCCACAGGACGCAGGGTGTGGCCACTTCTGTTGACTCTGCTTTTGTGTCACAGGTTTTGACAACTTCGAGCAGCTGCTCTCGGGGGCTCACTGGATGGTGAGTGCTGAGGCTGGTTCTCTGCCAAGTGCTGGCCAGAGGCGCGTGTGTTGGTCCTGGTCCCCCGCTTTCTCCCCCACTGTCCTGTCCCTCCCCTCCCCGTGCAGCTGCTCAGCTCCCACTCATCCTGCTCCTGTTTCAGGACCAGCACTTCCGCACGACGCCCCTGGAGAAGAACGCCCCCGTCTTGCTGGCCCTGCTGGGTATCTGGTACATCAACTGCTTTGGGTGTGAGACACACGCCATGCTGCCCTATGACCGGTACCTGCACCGCTTTGCTGCGTACTTCCAGCAGGTACCAGCTGCCAAGCCAGGCCTTGGAGTCAGCAAGATTTGTGGGGGGTCTGGGAGGTCTAGGAACCTGGGTTTCAGCTCCTCCAGGAGCTCTTTGCCCCATTGCCCTTGGGCCTGGCCAAGGTCCATCTGTGCTCCTTGTCTCAGGATGAATCTTTGTAACTGAGGTTGGTTCCATTTGAGTGTCATCTGAGTTTGATCACCATGGGAGGGGCATGACTGGTGATCATGGTGCCCTGGCTAGGGAGGTCCTGGCTTGACTCAGGGGATGTTTCTCAGCTGGGGTCACTTCTTTCTTGCACATCACTATGCATGCCTACCATAGTGTCTGAGGACGTAGGATCTAGCCCTGGTATGAGGCCCTAGGTCTGTTAGTATCTGGGGAGGAAGGATCTGGTACAGGTATGAGGACCTGGGTCTGTCCATGTCTGAGGAGGTGGGATTTGGCCATAGGGTGGGGCTGCAAGCTGGAATCCCTTATAGCCTGCACTGCCTTTATCCCTCCAGAAAAGCAAGTGTGTATCTAGTCTGTGGTGGCCTCTTTGGACTACATGGCCCTCTTCTCCCTTGGGATCTCCAGAGCCCCCCGAGAGGCTTAGCAGGCCCTCTCCTAGTCACATTATGTCCCAGAAAGCTTTTCCACACCTGTCCCTGCTTTTTTTTTTTTGAACAGATTCTCACTCTGTTTCCCAGGCAGGAGTGCAGTGGCGCGATCTCGGCTCATTGCAACCTCCGCTTCCTGAGTTCAAGCAATTCCTGTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGCATGCACCACCTTGCCTGGCTAATTTTTGTATTTTTAGTGGAAACGGGGTTTCACTATGTTGCCCAGGCTGGTTTCGAACTCCTGGCCTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAACCCTATCCTTGCTTTTGTTTAGTACAAAGCCAGTCCCTGTCCAGCAGCTCTTGAGTTGCTCTGGGCAGGTACAGAAGGCTTCACCAACACCTGGAAGCAAATCCTGTGACTGAAGGAGAGGCCAAGGTTCCCCAAATCCCAGCTGCCTTGGTGAGGGTTGCCATGACCAGGGCCCAGGTGGGTACCCAAAGCCTAGCATTTAGTTGTGGTGACAGCCCTCAAAGGCTGTACTCTTAGCCAGGCATGGTGGCTGATGCCTGCAATCCCAGCACCTTGGGAGGCAGAGGCTGGGGGGAATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACGTAGTGAGGCCCGGTCTCTACAAAAAAAACCCACAAAAACTAACAGTAGCCAGGCATGGTGGTGCGGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAAGAGGCTTGCTTGAGCCCAAGAGGTCGAGGCTTCAGTGAGCAATGATTCTACCACTGTACTCCAGCCTGAGTGACAGAGTGAGACTCTGTCTCTTTGGGAAAAAAAGAAGCTGTGCACTCTGGACCCCAGCCTGCTCTCCCTTAAGAAATGAGCTGATTTTGTGACCGATTTTGTCTTTAGGGAGGTCCTTGCCTGACCTCCAGACCCACCTTTTCCTGGGCATGAGTCCTTCCTGCACAGTGGCTTAAGCAGGAAAGGTTGGGAGGCTGTGTCCTCACTGGTGTGGGGAGGAAGGGGATCGTGCCTGTGGACACGTGTGCAGGTCCACCTCACGGTGTCAGGGCAGGGTGGGTCTGCCTGGAGCATCTGGGCAGGACTTTGGCATGGTGCAGGAAGGAGCAGGATTTGCGTACAGTGTGTGAAGGATCAAGACTTGCAGGAAGAGGGTTGGGTTTTTTTTCTTTCTTTTCCTTTCTTTTCCTTTTTTTTTTTTTTTCTTTTTTTTTGAGTTGGAGTTTTGCTCTTGTTGCCCAGTCTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTAC 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Task1_train_27019 | The gene GPI (glucose-6-phosphate isomerase) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hemolytic anemia due to glucophosphate isomerase deficiency | AGGATCTGGTGCAGGTATAAGGATCTGGGTCTTTCAATGTCTGAGAAGGTAGGATCTGGTACAGGTGTGAGGATCTGGGTCTGTTAATGTCTGAGGAGGTAGGATCTGGCACTGGTAAGAGGATCTGCATCTGTCAGTTTCTGAGGAGGTAGGATCTGGCCCTAGTAAGAAGATCTCAGTCTGTCAATTTCTGAGGAGGTTGGATCTGGCCCCCTTATGAGGATCTGAGTCTGTCAATATCTGAAGAGGTAGGAATCTGGTACAGGTATGAGGATCTGTGTGTGTGTCAGTGTCTGAGGAATTAGGAATCTGGTACAGGTGTGAGGATCTTCATGTCTCTGTATCTGAGGAAGTAGGATCTGATACAGGTATTAGGATCTGGGTCTATGTCTGAGGAGGTAGCATCTGATACAGGTATGAAGACCTGAGTCTGTCAGTGTCTGAAGTGGTTGGATCTGGCCCTGGTATGAGGATCTGGGTTTGTCAGTATTTGAGGAGGTAGGATCTGTCCCTGGTAGGAGGGTCTGTGTCTTCTAGTGTCTGAAGAAGTAGGATCTGGCCCTGGTATGAGGATCTGGGTCTGTCAGTATCTGAGGAGGTAGGATCTCATACAGGTATGAGGATCTGGGTTTTTCAATGTCTGAGGAGGTAGGATCTGGCACAGGCATGAGCATCTGGGTCTGACCATGTCTAAAGAGTTGAAGCTGTGTGCAGGTATGAGGCCTTGGGTCTGCCAGTGTCTGGGGAGGTGAGGCTGGGCATGGGTGTGAGACCCTGGGTCTGTCCATATCTGAGGAGGTAGGATCTGGTATGAGTATGAGGATCTGGGTGTGTCCGTGTCTGAGGAGGTGGGCCCTGGCACAGGTATGAGGCCTGGGGTCTGTCCGTGTCTGAGGAGGTGGGCCCTGGCGCAGGTATGAGGCCCTGGGTGTGTCCGTGTCTGAGGAGGTGGGCCCTGGCACAGGTATGAGGTCCTGGGTCTGCTGGTGTCTGCAGAGACAGGGCCCGACATCTCAGGGAAGACCACGGTAAGCTCTTCAGTTTGTCTTGTGGCTGTGGTCAGTCATCTGTAGTCTGCCCTGTTGGTCTTCCCATGTGTTGCCAGCACCTGCCTGCTGCCTTGCTTCCTGGAGGTGGGTTGGGCCAGGGCCCTCCGAGACGCCCCTGTGCAAGACCAGGGACAGGGTTTCCGGCAGGAGGTGGGGGGCGGGGTGTGCCGGCCCTCCCTCAGCACCTTGTCCTGTCTCTCCTAGTGGGTGGGAGGACGCTACTCGCTGTGGTCGGCCATCGGACTCTCCATTGCCCTGCACGTGGGTGAGTGTGTTTCTGTGTCTTGCAGCCCCTGTGGGAGACAGTGTTGCAGTCTAAGGTCGGGGTAGGGGGCTTGTGTCCCTGAACATCATGCTGTCCTCACAGGCTGCTGGCCTCTCTGCAGCTGGCTGGGATATTTATTTCATGTCCAGAAGGAAGGTCTGGGTTTTTTTGCGTGTGCAAGTTGGCCCCCGTCTTTGCCCCTCACAACTGCAGTCCTGTTTCTCTCCTATCCTAGGCAGAGTCAGATCCCTGCACTCAGGGCCACCTCTCACTGGAGGGGCTTTGTCTAGGTCCGAGTCCTCCCATGTCGTATCTTCTGGCTCTCCATGCAGCCTTCCTTCGTTGCAGAAGGAGCTGTGCCCACTGCCCACAGGACGCAGGGTGTGGCCACTTCTGTTGACTCTGCTTTTGTGTCACAGGTTTTGACAACTTCGAGCAGCTGCTCTCGGGGGCTCACTGGATGGTGAGTGCTGAGGCTGGTTCTCTGCCAAGTGCTGGCCAGAGGCGCGTGTGTTGGTCCTGGTCCCCCGCTTTCTCCCCCACTGTCCTGTCCCTCCCCTCCCCGTGCAGCTGCTCAGCTCCCACTCATCCTGCTCCTGTTTCAGGACCAGCACTTCCGCACGACGCCCCTGGAGAAGAACGCCCCCGTCTTGCTGGCCCTGCTGGGTATCTGGTACATCAACTGCTTTGGGTGTGAGACACACGCCATGCTGCCCTATGACCAGTACCTGCACCGCTTTGCTGCGTACTTCCAGCAGGTACCAGCTGCCAAGCCAGGCCTTGGAGTCAGCAAGATTTGTGGGGGGTCTGGGAGGTCTAGGAACCTGGGTTTCAGCTCCTCCAGGAGCTCTTTGCCCCATTGCCCTTGGGCCTGGCCAAGGTCCATCTGTGCTCCTTGTCTCAGGATGAATCTTTGTAACTGAGGTTGGTTCCATTTGAGTGTCATCTGAGTTTGATCACCATGGGAGGGGCATGACTGGTGATCATGGTGCCCTGGCTAGGGAGGTCCTGGCTTGACTCAGGGGATGTTTCTCAGCTGGGGTCACTTCTTTCTTGCACATCACTATGCATGCCTACCATAGTGTCTGAGGACGTAGGATCTAGCCCTGGTATGAGGCCCTAGGTCTGTTAGTATCTGGGGAGGAAGGATCTGGTACAGGTATGAGGACCTGGGTCTGTCCATGTCTGAGGAGGTGGGATTTGGCCATAGGGTGGGGCTGCAAGCTGGAATCCCTTATAGCCTGCACTGCCTTTATCCCTCCAGAAAAGCAAGTGTGTATCTAGTCTGTGGTGGCCTCTTTGGACTACATGGCCCTCTTCTCCCTTGGGATCTCCAGAGCCCCCCGAGAGGCTTAGCAGGCCCTCTCCTAGTCACATTATGTCCCAGAAAGCTTTTCCACACCTGTCCCTGCTTTTTTTTTTTTGAACAGATTCTCACTCTGTTTCCCAGGCAGGAGTGCAGTGGCGCGATCTCGGCTCATTGCAACCTCCGCTTCCTGAGTTCAAGCAATTCCTGTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGCATGCACCACCTTGCCTGGCTAATTTTTGTATTTTTAGTGGAAACGGGGTTTCACTATGTTGCCCAGGCTGGTTTCGAACTCCTGGCCTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAACCCTATCCTTGCTTTTGTTTAGTACAAAGCCAGTCCCTGTCCAGCAGCTCTTGAGTTGCTCTGGGCAGGTACAGAAGGCTTCACCAACACCTGGAAGCAAATCCTGTGACTGAAGGAGAGGCCAAGGTTCCCCAAATCCCAGCTGCCTTGGTGAGGGTTGCCATGACCAGGGCCCAGGTGGGTACCCAAAGCCTAGCATTTAGTTGTGGTGACAGCCCTCAAAGGCTGTACTCTTAGCCAGGCATGGTGGCTGATGCCTGCAATCCCAGCACCTTGGGAGGCAGAGGCTGGGGGGAATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACGTAGTGAGGCCCGGTCTCTACAAAAAAAACCCACAAAAACTAACAGTAGCCAGGCATGGTGGTGCGGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAAGAGGCTTGCTTGAGCCCAAGAGGTCGAGGCTTCAGTGAGCAATGATTCTACCACTGTACTCCAGCCTGAGTGACAGAGTGAGACTCTGTCTCTTTGGGAAAAAAAGAAGCTGTGCACTCTGGACCCCAGCCTGCTCTCCCTTAAGAAATGAGCTGATTTTGTGACCGATTTTGTCTTTAGGGAGGTCCTTGCCTGACCTCCAGACCCACCTTTTCCTGGGCATGAGTCCTTCCTGCACAGTGGCTTAAGCAGGAAAGGTTGGGAGGCTGTGTCCTCACTGGTGTGGGGAGGAAGGGGATCGTGCCTGTGGACACGTGTGCAGGTCCACCTCACGGTGTCAGGGCAGGGTGGGTCTGCCTGGAGCATCTGGGCAGGACTTTGGCATGGTGCAGGAAGGAGCAGGATTTGCGTACAGTGTGTGAAGGATCAAGACTTGCAGGAAGAGGGTTGGGTTTTTTTTCTTTCTTTTCCTTTCTTTTCCTTTTTTTTTTTTTTTCTTTTTTTTTGAGTTGGAGTTTTGCTCTTGTTGCCCAGTCTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGCATGCGCC 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AGGATCTGGTGCAGGTATAAGGATCTGGGTCTTTCAATGTCTGAGAAGGTAGGATCTGGTACAGGTGTGAGGATCTGGGTCTGTTAATGTCTGAGGAGGTAGGATCTGGCACTGGTAAGAGGATCTGCATCTGTCAGTTTCTGAGGAGGTAGGATCTGGCCCTAGTAAGAAGATCTCAGTCTGTCAATTTCTGAGGAGGTTGGATCTGGCCCCCTTATGAGGATCTGAGTCTGTCAATATCTGAAGAGGTAGGAATCTGGTACAGGTATGAGGATCTGTGTGTGTGTCAGTGTCTGAGGAATTAGGAATCTGGTACAGGTGTGAGGATCTTCATGTCTCTGTATCTGAGGAAGTAGGATCTGATACAGGTATTAGGATCTGGGTCTATGTCTGAGGAGGTAGCATCTGATACAGGTATGAAGACCTGAGTCTGTCAGTGTCTGAAGTGGTTGGATCTGGCCCTGGTATGAGGATCTGGGTTTGTCAGTATTTGAGGAGGTAGGATCTGTCCCTGGTAGGAGGGTCTGTGTCTTCTAGTGTCTGAAGAAGTAGGATCTGGCCCTGGTATGAGGATCTGGGTCTGTCAGTATCTGAGGAGGTAGGATCTCATACAGGTATGAGGATCTGGGTTTTTCAATGTCTGAGGAGGTAGGATCTGGCACAGGCATGAGCATCTGGGTCTGACCATGTCTAAAGAGTTGAAGCTGTGTGCAGGTATGAGGCCTTGGGTCTGCCAGTGTCTGGGGAGGTGAGGCTGGGCATGGGTGTGAGACCCTGGGTCTGTCCATATCTGAGGAGGTAGGATCTGGTATGAGTATGAGGATCTGGGTGTGTCCGTGTCTGAGGAGGTGGGCCCTGGCACAGGTATGAGGCCTGGGGTCTGTCCGTGTCTGAGGAGGTGGGCCCTGGCGCAGGTATGAGGCCCTGGGTGTGTCCGTGTCTGAGGAGGTGGGCCCTGGCACAGGTATGAGGTCCTGGGTCTGCTGGTGTCTGCAGAGACAGGGCCCGACATCTCAGGGAAGACCACGGTAAGCTCTTCAGTTTGTCTTGTGGCTGTGGTCAGTCATCTGTAGTCTGCCCTGTTGGTCTTCCCATGTGTTGCCAGCACCTGCCTGCTGCCTTGCTTCCTGGAGGTGGGTTGGGCCAGGGCCCTCCGAGACGCCCCTGTGCAAGACCAGGGACAGGGTTTCCGGCAGGAGGTGGGGGGCGGGGTGTGCCGGCCCTCCCTCAGCACCTTGTCCTGTCTCTCCTAGTGGGTGGGAGGACGCTACTCGCTGTGGTCGGCCATCGGACTCTCCATTGCCCTGCACGTGGGTGAGTGTGTTTCTGTGTCTTGCAGCCCCTGTGGGAGACAGTGTTGCAGTCTAAGGTCGGGGTAGGGGGCTTGTGTCCCTGAACATCATGCTGTCCTCACAGGCTGCTGGCCTCTCTGCAGCTGGCTGGGATATTTATTTCATGTCCAGAAGGAAGGTCTGGGTTTTTTTGCGTGTGCAAGTTGGCCCCCGTCTTTGCCCCTCACAACTGCAGTCCTGTTTCTCTCCTATCCTAGGCAGAGTCAGATCCCTGCACTCAGGGCCACCTCTCACTGGAGGGGCTTTGTCTAGGTCCGAGTCCTCCCATGTCGTATCTTCTGGCTCTCCATGCAGCCTTCCTTCGTTGCAGAAGGAGCTGTGCCCACTGCCCACAGGACGCAGGGTGTGGCCACTTCTGTTGACTCTGCTTTTGTGTCACAGGTTTTGACAACTTCGAGCAGCTGCTCTCGGGGGCTCACTGGATGGTGAGTGCTGAGGCTGGTTCTCTGCCAAGTGCTGGCCAGAGGCGCGTGTGTTGGTCCTGGTCCCCCGCTTTCTCCCCCACTGTCCTGTCCCTCCCCTCCCCGTGCAGCTGCTCAGCTCCCACTCATCCTGCTCCTGTTTCAGGACCAGCACTTCCGCACGACGCCCCTGGAGAAGAACGCCCCCGTCTTGCTGGCCCTGCTGGGTATCTGGTACATCAACTGCTTTGGGTGTGAGACACACGCCATGCTGCCCTATGACCAGTACCTGCACTGCTTTGCTGCGTACTTCCAGCAGGTACCAGCTGCCAAGCCAGGCCTTGGAGTCAGCAAGATTTGTGGGGGGTCTGGGAGGTCTAGGAACCTGGGTTTCAGCTCCTCCAGGAGCTCTTTGCCCCATTGCCCTTGGGCCTGGCCAAGGTCCATCTGTGCTCCTTGTCTCAGGATGAATCTTTGTAACTGAGGTTGGTTCCATTTGAGTGTCATCTGAGTTTGATCACCATGGGAGGGGCATGACTGGTGATCATGGTGCCCTGGCTAGGGAGGTCCTGGCTTGACTCAGGGGATGTTTCTCAGCTGGGGTCACTTCTTTCTTGCACATCACTATGCATGCCTACCATAGTGTCTGAGGACGTAGGATCTAGCCCTGGTATGAGGCCCTAGGTCTGTTAGTATCTGGGGAGGAAGGATCTGGTACAGGTATGAGGACCTGGGTCTGTCCATGTCTGAGGAGGTGGGATTTGGCCATAGGGTGGGGCTGCAAGCTGGAATCCCTTATAGCCTGCACTGCCTTTATCCCTCCAGAAAAGCAAGTGTGTATCTAGTCTGTGGTGGCCTCTTTGGACTACATGGCCCTCTTCTCCCTTGGGATCTCCAGAGCCCCCCGAGAGGCTTAGCAGGCCCTCTCCTAGTCACATTATGTCCCAGAAAGCTTTTCCACACCTGTCCCTGCTTTTTTTTTTTTGAACAGATTCTCACTCTGTTTCCCAGGCAGGAGTGCAGTGGCGCGATCTCGGCTCATTGCAACCTCCGCTTCCTGAGTTCAAGCAATTCCTGTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGCATGCACCACCTTGCCTGGCTAATTTTTGTATTTTTAGTGGAAACGGGGTTTCACTATGTTGCCCAGGCTGGTTTCGAACTCCTGGCCTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAACCCTATCCTTGCTTTTGTTTAGTACAAAGCCAGTCCCTGTCCAGCAGCTCTTGAGTTGCTCTGGGCAGGTACAGAAGGCTTCACCAACACCTGGAAGCAAATCCTGTGACTGAAGGAGAGGCCAAGGTTCCCCAAATCCCAGCTGCCTTGGTGAGGGTTGCCATGACCAGGGCCCAGGTGGGTACCCAAAGCCTAGCATTTAGTTGTGGTGACAGCCCTCAAAGGCTGTACTCTTAGCCAGGCATGGTGGCTGATGCCTGCAATCCCAGCACCTTGGGAGGCAGAGGCTGGGGGGAATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACGTAGTGAGGCCCGGTCTCTACAAAAAAAACCCACAAAAACTAACAGTAGCCAGGCATGGTGGTGCGGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAAGAGGCTTGCTTGAGCCCAAGAGGTCGAGGCTTCAGTGAGCAATGATTCTACCACTGTACTCCAGCCTGAGTGACAGAGTGAGACTCTGTCTCTTTGGGAAAAAAAGAAGCTGTGCACTCTGGACCCCAGCCTGCTCTCCCTTAAGAAATGAGCTGATTTTGTGACCGATTTTGTCTTTAGGGAGGTCCTTGCCTGACCTCCAGACCCACCTTTTCCTGGGCATGAGTCCTTCCTGCACAGTGGCTTAAGCAGGAAAGGTTGGGAGGCTGTGTCCTCACTGGTGTGGGGAGGAAGGGGATCGTGCCTGTGGACACGTGTGCAGGTCCACCTCACGGTGTCAGGGCAGGGTGGGTCTGCCTGGAGCATCTGGGCAGGACTTTGGCATGGTGCAGGAAGGAGCAGGATTTGCGTACAGTGTGTGAAGGATCAAGACTTGCAGGAAGAGGGTTGGGTTTTTTTTCTTTCTTTTCCTTTCTTTTCCTTTTTTTTTTTTTTTCTTTTTTTTTGAGTTGGAGTTTTGCTCTTGTTGCCCAGTCTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGCATGCGCC 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Task1_train_27020 | A sequence alteration has been identified in GPI (glucose-6-phosphate isomerase) on Chromosome 19. Is it disease-inducing or harmless? | Pathogenic; Hemolytic anemia due to glucophosphate isomerase deficiency | GGATCTGGTGCAGGTATAAGGATCTGGGTCTTTCAATGTCTGAGAAGGTAGGATCTGGTACAGGTGTGAGGATCTGGGTCTGTTAATGTCTGAGGAGGTAGGATCTGGCACTGGTAAGAGGATCTGCATCTGTCAGTTTCTGAGGAGGTAGGATCTGGCCCTAGTAAGAAGATCTCAGTCTGTCAATTTCTGAGGAGGTTGGATCTGGCCCCCTTATGAGGATCTGAGTCTGTCAATATCTGAAGAGGTAGGAATCTGGTACAGGTATGAGGATCTGTGTGTGTGTCAGTGTCTGAGGAATTAGGAATCTGGTACAGGTGTGAGGATCTTCATGTCTCTGTATCTGAGGAAGTAGGATCTGATACAGGTATTAGGATCTGGGTCTATGTCTGAGGAGGTAGCATCTGATACAGGTATGAAGACCTGAGTCTGTCAGTGTCTGAAGTGGTTGGATCTGGCCCTGGTATGAGGATCTGGGTTTGTCAGTATTTGAGGAGGTAGGATCTGTCCCTGGTAGGAGGGTCTGTGTCTTCTAGTGTCTGAAGAAGTAGGATCTGGCCCTGGTATGAGGATCTGGGTCTGTCAGTATCTGAGGAGGTAGGATCTCATACAGGTATGAGGATCTGGGTTTTTCAATGTCTGAGGAGGTAGGATCTGGCACAGGCATGAGCATCTGGGTCTGACCATGTCTAAAGAGTTGAAGCTGTGTGCAGGTATGAGGCCTTGGGTCTGCCAGTGTCTGGGGAGGTGAGGCTGGGCATGGGTGTGAGACCCTGGGTCTGTCCATATCTGAGGAGGTAGGATCTGGTATGAGTATGAGGATCTGGGTGTGTCCGTGTCTGAGGAGGTGGGCCCTGGCACAGGTATGAGGCCTGGGGTCTGTCCGTGTCTGAGGAGGTGGGCCCTGGCGCAGGTATGAGGCCCTGGGTGTGTCCGTGTCTGAGGAGGTGGGCCCTGGCACAGGTATGAGGTCCTGGGTCTGCTGGTGTCTGCAGAGACAGGGCCCGACATCTCAGGGAAGACCACGGTAAGCTCTTCAGTTTGTCTTGTGGCTGTGGTCAGTCATCTGTAGTCTGCCCTGTTGGTCTTCCCATGTGTTGCCAGCACCTGCCTGCTGCCTTGCTTCCTGGAGGTGGGTTGGGCCAGGGCCCTCCGAGACGCCCCTGTGCAAGACCAGGGACAGGGTTTCCGGCAGGAGGTGGGGGGCGGGGTGTGCCGGCCCTCCCTCAGCACCTTGTCCTGTCTCTCCTAGTGGGTGGGAGGACGCTACTCGCTGTGGTCGGCCATCGGACTCTCCATTGCCCTGCACGTGGGTGAGTGTGTTTCTGTGTCTTGCAGCCCCTGTGGGAGACAGTGTTGCAGTCTAAGGTCGGGGTAGGGGGCTTGTGTCCCTGAACATCATGCTGTCCTCACAGGCTGCTGGCCTCTCTGCAGCTGGCTGGGATATTTATTTCATGTCCAGAAGGAAGGTCTGGGTTTTTTTGCGTGTGCAAGTTGGCCCCCGTCTTTGCCCCTCACAACTGCAGTCCTGTTTCTCTCCTATCCTAGGCAGAGTCAGATCCCTGCACTCAGGGCCACCTCTCACTGGAGGGGCTTTGTCTAGGTCCGAGTCCTCCCATGTCGTATCTTCTGGCTCTCCATGCAGCCTTCCTTCGTTGCAGAAGGAGCTGTGCCCACTGCCCACAGGACGCAGGGTGTGGCCACTTCTGTTGACTCTGCTTTTGTGTCACAGGTTTTGACAACTTCGAGCAGCTGCTCTCGGGGGCTCACTGGATGGTGAGTGCTGAGGCTGGTTCTCTGCCAAGTGCTGGCCAGAGGCGCGTGTGTTGGTCCTGGTCCCCCGCTTTCTCCCCCACTGTCCTGTCCCTCCCCTCCCCGTGCAGCTGCTCAGCTCCCACTCATCCTGCTCCTGTTTCAGGACCAGCACTTCCGCACGACGCCCCTGGAGAAGAACGCCCCCGTCTTGCTGGCCCTGCTGGGTATCTGGTACATCAACTGCTTTGGGTGTGAGACACACGCCATGCTGCCCTATGACCAGTACCTGCACCGCTTTGCTGCGTACTTCCAGCAGGTACCAGCTGCCAAGCCAGGCCTTGGAGTCAGCAAGATTTGTGGGGGGTCTGGGAGGTCTAGGAACCTGGGTTTCAGCTCCTCCAGGAGCTCTTTGCCCCATTGCCCTTGGGCCTGGCCAAGGTCCATCTGTGCTCCTTGTCTCAGGATGAATCTTTGTAACTGAGGTTGGTTCCATTTGAGTGTCATCTGAGTTTGATCACCATGGGAGGGGCATGACTGGTGATCATGGTGCCCTGGCTAGGGAGGTCCTGGCTTGACTCAGGGGATGTTTCTCAGCTGGGGTCACTTCTTTCTTGCACATCACTATGCATGCCTACCATAGTGTCTGAGGACGTAGGATCTAGCCCTGGTATGAGGCCCTAGGTCTGTTAGTATCTGGGGAGGAAGGATCTGGTACAGGTATGAGGACCTGGGTCTGTCCATGTCTGAGGAGGTGGGATTTGGCCATAGGGTGGGGCTGCAAGCTGGAATCCCTTATAGCCTGCACTGCCTTTATCCCTCCAGAAAAGCAAGTGTGTATCTAGTCTGTGGTGGCCTCTTTGGACTACATGGCCCTCTTCTCCCTTGGGATCTCCAGAGCCCCCCGAGAGGCTTAGCAGGCCCTCTCCTAGTCACATTATGTCCCAGAAAGCTTTTCCACACCTGTCCCTGCTTTTTTTTTTTTGAACAGATTCTCACTCTGTTTCCCAGGCAGGAGTGCAGTGGCGCGATCTCGGCTCATTGCAACCTCCGCTTCCTGAGTTCAAGCAATTCCTGTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGCATGCACCACCTTGCCTGGCTAATTTTTGTATTTTTAGTGGAAACGGGGTTTCACTATGTTGCCCAGGCTGGTTTCGAACTCCTGGCCTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAACCCTATCCTTGCTTTTGTTTAGTACAAAGCCAGTCCCTGTCCAGCAGCTCTTGAGTTGCTCTGGGCAGGTACAGAAGGCTTCACCAACACCTGGAAGCAAATCCTGTGACTGAAGGAGAGGCCAAGGTTCCCCAAATCCCAGCTGCCTTGGTGAGGGTTGCCATGACCAGGGCCCAGGTGGGTACCCAAAGCCTAGCATTTAGTTGTGGTGACAGCCCTCAAAGGCTGTACTCTTAGCCAGGCATGGTGGCTGATGCCTGCAATCCCAGCACCTTGGGAGGCAGAGGCTGGGGGGAATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACGTAGTGAGGCCCGGTCTCTACAAAAAAAACCCACAAAAACTAACAGTAGCCAGGCATGGTGGTGCGGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAAGAGGCTTGCTTGAGCCCAAGAGGTCGAGGCTTCAGTGAGCAATGATTCTACCACTGTACTCCAGCCTGAGTGACAGAGTGAGACTCTGTCTCTTTGGGAAAAAAAGAAGCTGTGCACTCTGGACCCCAGCCTGCTCTCCCTTAAGAAATGAGCTGATTTTGTGACCGATTTTGTCTTTAGGGAGGTCCTTGCCTGACCTCCAGACCCACCTTTTCCTGGGCATGAGTCCTTCCTGCACAGTGGCTTAAGCAGGAAAGGTTGGGAGGCTGTGTCCTCACTGGTGTGGGGAGGAAGGGGATCGTGCCTGTGGACACGTGTGCAGGTCCACCTCACGGTGTCAGGGCAGGGTGGGTCTGCCTGGAGCATCTGGGCAGGACTTTGGCATGGTGCAGGAAGGAGCAGGATTTGCGTACAGTGTGTGAAGGATCAAGACTTGCAGGAAGAGGGTTGGGTTTTTTTTCTTTCTTTTCCTTTCTTTTCCTTTTTTTTTTTTTTTCTTTTTTTTTGAGTTGGAGTTTTGCTCTTGTTGCCCAGTCTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGCATGCGCCA 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GGATCTGGTGCAGGTATAAGGATCTGGGTCTTTCAATGTCTGAGAAGGTAGGATCTGGTACAGGTGTGAGGATCTGGGTCTGTTAATGTCTGAGGAGGTAGGATCTGGCACTGGTAAGAGGATCTGCATCTGTCAGTTTCTGAGGAGGTAGGATCTGGCCCTAGTAAGAAGATCTCAGTCTGTCAATTTCTGAGGAGGTTGGATCTGGCCCCCTTATGAGGATCTGAGTCTGTCAATATCTGAAGAGGTAGGAATCTGGTACAGGTATGAGGATCTGTGTGTGTGTCAGTGTCTGAGGAATTAGGAATCTGGTACAGGTGTGAGGATCTTCATGTCTCTGTATCTGAGGAAGTAGGATCTGATACAGGTATTAGGATCTGGGTCTATGTCTGAGGAGGTAGCATCTGATACAGGTATGAAGACCTGAGTCTGTCAGTGTCTGAAGTGGTTGGATCTGGCCCTGGTATGAGGATCTGGGTTTGTCAGTATTTGAGGAGGTAGGATCTGTCCCTGGTAGGAGGGTCTGTGTCTTCTAGTGTCTGAAGAAGTAGGATCTGGCCCTGGTATGAGGATCTGGGTCTGTCAGTATCTGAGGAGGTAGGATCTCATACAGGTATGAGGATCTGGGTTTTTCAATGTCTGAGGAGGTAGGATCTGGCACAGGCATGAGCATCTGGGTCTGACCATGTCTAAAGAGTTGAAGCTGTGTGCAGGTATGAGGCCTTGGGTCTGCCAGTGTCTGGGGAGGTGAGGCTGGGCATGGGTGTGAGACCCTGGGTCTGTCCATATCTGAGGAGGTAGGATCTGGTATGAGTATGAGGATCTGGGTGTGTCCGTGTCTGAGGAGGTGGGCCCTGGCACAGGTATGAGGCCTGGGGTCTGTCCGTGTCTGAGGAGGTGGGCCCTGGCGCAGGTATGAGGCCCTGGGTGTGTCCGTGTCTGAGGAGGTGGGCCCTGGCACAGGTATGAGGTCCTGGGTCTGCTGGTGTCTGCAGAGACAGGGCCCGACATCTCAGGGAAGACCACGGTAAGCTCTTCAGTTTGTCTTGTGGCTGTGGTCAGTCATCTGTAGTCTGCCCTGTTGGTCTTCCCATGTGTTGCCAGCACCTGCCTGCTGCCTTGCTTCCTGGAGGTGGGTTGGGCCAGGGCCCTCCGAGACGCCCCTGTGCAAGACCAGGGACAGGGTTTCCGGCAGGAGGTGGGGGGCGGGGTGTGCCGGCCCTCCCTCAGCACCTTGTCCTGTCTCTCCTAGTGGGTGGGAGGACGCTACTCGCTGTGGTCGGCCATCGGACTCTCCATTGCCCTGCACGTGGGTGAGTGTGTTTCTGTGTCTTGCAGCCCCTGTGGGAGACAGTGTTGCAGTCTAAGGTCGGGGTAGGGGGCTTGTGTCCCTGAACATCATGCTGTCCTCACAGGCTGCTGGCCTCTCTGCAGCTGGCTGGGATATTTATTTCATGTCCAGAAGGAAGGTCTGGGTTTTTTTGCGTGTGCAAGTTGGCCCCCGTCTTTGCCCCTCACAACTGCAGTCCTGTTTCTCTCCTATCCTAGGCAGAGTCAGATCCCTGCACTCAGGGCCACCTCTCACTGGAGGGGCTTTGTCTAGGTCCGAGTCCTCCCATGTCGTATCTTCTGGCTCTCCATGCAGCCTTCCTTCGTTGCAGAAGGAGCTGTGCCCACTGCCCACAGGACGCAGGGTGTGGCCACTTCTGTTGACTCTGCTTTTGTGTCACAGGTTTTGACAACTTCGAGCAGCTGCTCTCGGGGGCTCACTGGATGGTGAGTGCTGAGGCTGGTTCTCTGCCAAGTGCTGGCCAGAGGCGCGTGTGTTGGTCCTGGTCCCCCGCTTTCTCCCCCACTGTCCTGTCCCTCCCCTCCCCGTGCAGCTGCTCAGCTCCCACTCATCCTGCTCCTGTTTCAGGACCAGCACTTCCGCACGACGCCCCTGGAGAAGAACGCCCCCGTCTTGCTGGCCCTGCTGGGTATCTGGTACATCAACTGCTTTGGGTGTGAGACACACGCCATGCTGCCCTATGACCAGTACCTGCACCACTTTGCTGCGTACTTCCAGCAGGTACCAGCTGCCAAGCCAGGCCTTGGAGTCAGCAAGATTTGTGGGGGGTCTGGGAGGTCTAGGAACCTGGGTTTCAGCTCCTCCAGGAGCTCTTTGCCCCATTGCCCTTGGGCCTGGCCAAGGTCCATCTGTGCTCCTTGTCTCAGGATGAATCTTTGTAACTGAGGTTGGTTCCATTTGAGTGTCATCTGAGTTTGATCACCATGGGAGGGGCATGACTGGTGATCATGGTGCCCTGGCTAGGGAGGTCCTGGCTTGACTCAGGGGATGTTTCTCAGCTGGGGTCACTTCTTTCTTGCACATCACTATGCATGCCTACCATAGTGTCTGAGGACGTAGGATCTAGCCCTGGTATGAGGCCCTAGGTCTGTTAGTATCTGGGGAGGAAGGATCTGGTACAGGTATGAGGACCTGGGTCTGTCCATGTCTGAGGAGGTGGGATTTGGCCATAGGGTGGGGCTGCAAGCTGGAATCCCTTATAGCCTGCACTGCCTTTATCCCTCCAGAAAAGCAAGTGTGTATCTAGTCTGTGGTGGCCTCTTTGGACTACATGGCCCTCTTCTCCCTTGGGATCTCCAGAGCCCCCCGAGAGGCTTAGCAGGCCCTCTCCTAGTCACATTATGTCCCAGAAAGCTTTTCCACACCTGTCCCTGCTTTTTTTTTTTTGAACAGATTCTCACTCTGTTTCCCAGGCAGGAGTGCAGTGGCGCGATCTCGGCTCATTGCAACCTCCGCTTCCTGAGTTCAAGCAATTCCTGTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGCATGCACCACCTTGCCTGGCTAATTTTTGTATTTTTAGTGGAAACGGGGTTTCACTATGTTGCCCAGGCTGGTTTCGAACTCCTGGCCTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAACCCTATCCTTGCTTTTGTTTAGTACAAAGCCAGTCCCTGTCCAGCAGCTCTTGAGTTGCTCTGGGCAGGTACAGAAGGCTTCACCAACACCTGGAAGCAAATCCTGTGACTGAAGGAGAGGCCAAGGTTCCCCAAATCCCAGCTGCCTTGGTGAGGGTTGCCATGACCAGGGCCCAGGTGGGTACCCAAAGCCTAGCATTTAGTTGTGGTGACAGCCCTCAAAGGCTGTACTCTTAGCCAGGCATGGTGGCTGATGCCTGCAATCCCAGCACCTTGGGAGGCAGAGGCTGGGGGGAATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACGTAGTGAGGCCCGGTCTCTACAAAAAAAACCCACAAAAACTAACAGTAGCCAGGCATGGTGGTGCGGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAAGAGGCTTGCTTGAGCCCAAGAGGTCGAGGCTTCAGTGAGCAATGATTCTACCACTGTACTCCAGCCTGAGTGACAGAGTGAGACTCTGTCTCTTTGGGAAAAAAAGAAGCTGTGCACTCTGGACCCCAGCCTGCTCTCCCTTAAGAAATGAGCTGATTTTGTGACCGATTTTGTCTTTAGGGAGGTCCTTGCCTGACCTCCAGACCCACCTTTTCCTGGGCATGAGTCCTTCCTGCACAGTGGCTTAAGCAGGAAAGGTTGGGAGGCTGTGTCCTCACTGGTGTGGGGAGGAAGGGGATCGTGCCTGTGGACACGTGTGCAGGTCCACCTCACGGTGTCAGGGCAGGGTGGGTCTGCCTGGAGCATCTGGGCAGGACTTTGGCATGGTGCAGGAAGGAGCAGGATTTGCGTACAGTGTGTGAAGGATCAAGACTTGCAGGAAGAGGGTTGGGTTTTTTTTCTTTCTTTTCCTTTCTTTTCCTTTTTTTTTTTTTTTCTTTTTTTTTGAGTTGGAGTTTTGCTCTTGTTGCCCAGTCTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGCATGCGCCA 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Task1_train_27021 | Given this context: Chromosome 19, gene GPI (glucose-6-phosphate isomerase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hemolytic anemia due to glucophosphate isomerase deficiency | GTCCTGGCTTGACTCAGGGGATGTTTCTCAGCTGGGGTCACTTCTTTCTTGCACATCACTATGCATGCCTACCATAGTGTCTGAGGACGTAGGATCTAGCCCTGGTATGAGGCCCTAGGTCTGTTAGTATCTGGGGAGGAAGGATCTGGTACAGGTATGAGGACCTGGGTCTGTCCATGTCTGAGGAGGTGGGATTTGGCCATAGGGTGGGGCTGCAAGCTGGAATCCCTTATAGCCTGCACTGCCTTTATCCCTCCAGAAAAGCAAGTGTGTATCTAGTCTGTGGTGGCCTCTTTGGACTACATGGCCCTCTTCTCCCTTGGGATCTCCAGAGCCCCCCGAGAGGCTTAGCAGGCCCTCTCCTAGTCACATTATGTCCCAGAAAGCTTTTCCACACCTGTCCCTGCTTTTTTTTTTTTGAACAGATTCTCACTCTGTTTCCCAGGCAGGAGTGCAGTGGCGCGATCTCGGCTCATTGCAACCTCCGCTTCCTGAGTTCAAGCAATTCCTGTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGCATGCACCACCTTGCCTGGCTAATTTTTGTATTTTTAGTGGAAACGGGGTTTCACTATGTTGCCCAGGCTGGTTTCGAACTCCTGGCCTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAACCCTATCCTTGCTTTTGTTTAGTACAAAGCCAGTCCCTGTCCAGCAGCTCTTGAGTTGCTCTGGGCAGGTACAGAAGGCTTCACCAACACCTGGAAGCAAATCCTGTGACTGAAGGAGAGGCCAAGGTTCCCCAAATCCCAGCTGCCTTGGTGAGGGTTGCCATGACCAGGGCCCAGGTGGGTACCCAAAGCCTAGCATTTAGTTGTGGTGACAGCCCTCAAAGGCTGTACTCTTAGCCAGGCATGGTGGCTGATGCCTGCAATCCCAGCACCTTGGGAGGCAGAGGCTGGGGGGAATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACGTAGTGAGGCCCGGTCTCTACAAAAAAAACCCACAAAAACTAACAGTAGCCAGGCATGGTGGTGCGGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAAGAGGCTTGCTTGAGCCCAAGAGGTCGAGGCTTCAGTGAGCAATGATTCTACCACTGTACTCCAGCCTGAGTGACAGAGTGAGACTCTGTCTCTTTGGGAAAAAAAGAAGCTGTGCACTCTGGACCCCAGCCTGCTCTCCCTTAAGAAATGAGCTGATTTTGTGACCGATTTTGTCTTTAGGGAGGTCCTTGCCTGACCTCCAGACCCACCTTTTCCTGGGCATGAGTCCTTCCTGCACAGTGGCTTAAGCAGGAAAGGTTGGGAGGCTGTGTCCTCACTGGTGTGGGGAGGAAGGGGATCGTGCCTGTGGACACGTGTGCAGGTCCACCTCACGGTGTCAGGGCAGGGTGGGTCTGCCTGGAGCATCTGGGCAGGACTTTGGCATGGTGCAGGAAGGAGCAGGATTTGCGTACAGTGTGTGAAGGATCAAGACTTGCAGGAAGAGGGTTGGGTTTTTTTTCTTTCTTTTCCTTTCTTTTCCTTTTTTTTTTTTTTTCTTTTTTTTTGAGTTGGAGTTTTGCTCTTGTTGCCCAGTCTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGCATGCGCCATCACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTAATCAGGCTGGTCTCAAACTTCCAACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGCTTGAGCCACTGCGCTCAGCCTCTTTCTTTCTTTTTAAATGTTCTTTCATTTTGCCAAGAACTGGGTTTCTGTTCCTTTTCCAGGGCGACATGGAGTCCAATGGGAAATACATCACCAAATCTGGAACCCGTGTGGACCACCAGACAGGCCCCATTGTGTGGGGGGAGCCAGGGACCAATGGCCAGCATGCTTTTTACCAGCTCATCCACCAAGGTAGGCCCCTGTGGCCTGGGAAGGGTGATGTTGGGGGAGGGAAAGGATCTTCCAGAAGAGATATCTCACTTAGGTCAGTGCCCTCCTCTAGGCCATATGGCTAGCTCCCATGGGCTGGGGTCATGTGGGTGACCACAGTGCCCTTCACAGGCACCAAGATGATACCCTGTGACTTCCTCATCCCGGTCCAGACCCAGCACCCCATACGGAAGGGTCTGCATCACAAGGTAAGAGCCCCCATCTGGCCCCATCTGGGGGGTCTGGCTCACATTGCACCCAGACCTCTGAAAACCTGGTGCATTGGTTGGCAATCACGTTAGTTTTCTATTCCTGCCGTAACAAATGATAACAAACATGGAGGCTTAAAACAACACTCTTCTTTTGTGGGGTGGGGAGGGGGGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTTCCCCTCCCGGCCTCAAGTGATTCTTATGCCTCAGCCTCCCAAGTAGCTGGGACTACTGGCACTCACCACCATGGCCAGCTAATTTTTGTAGTTTTGGTAAAGGGGGGGTTTCACTATGTTGGCCAGGCTGGTCTTGAACTCATGACCTCAAGTAATCTACCTGCCTCGGCCTCCCTAAGTGCTGGGATTATAGGCATGAGCCACCTTCCTGGGCTATCTGAAGAGTTTCTGAAGCTCAAATATCCAGCAGGCCCTGATGTGTCTCTGCTTAGAGTCTTGCAGGCTGAAATCAAGGTGTCATCAGGACTGTGTTTCTTTCTGGAGACCTTAGGGGAAAAGCCTTTGACCTGCTTGTCAGGTGGTTGGCAGAATTCATTTCTCTATGGTTGTGGAACTGAAGTCCAGCTTCCTTGCTGTGGGCTGAAGGTCGTTCTCAGATTCTCAGAGGTCACCTGCATCCTCTAGCTTGTGGGCCTCTTCACTGCAGAACCAGCAATGGCAGGTTAAATCCTTCTCTGAAGCTTTGATTCTGTCTTGCCACTTCTGTTGCATCTCTCTGACTTGTTTACCTTCCTCTTCTACATTTTGCTTTTGTTCCCTAAGTGACAGTGTCATGCTGTGTTGTCTAGGCTGGACTTACAGTGGCATGATCACAGTTCACTGTATTCTCAACGTCCCAGGCTCAAGCAGTCTTCCTGCCTCGGCCCCTCAAATAGCTGAGACTTACAGGCACTAACAGGCACTTACAGGCACTTACAGGCACTAACAGCCTGGCTAACTGTTAAACTTTTTGTAGAGGCCAGATTTCACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGTGATTCTCCTGCCTCGGCCTCCCAAAGTTTTGGGATTACAGGCATGAGCTACCGTGCCTGGCCCTCTTTTACTTTTAAGGGCCAGTGTGATTAGATTGGGGCTACTAGATAATCCAGGAAAATCTCCCCTTTTGTTTATTTTATTTATTTATTTTATTTTAGAGATAGCATGTCACTCTGTTGCTGAGGCTGGAGTGCACTGGCCCAATCATAGCTCACTACAGCCTTGAACTCCTGGGCTCAAGCAATCCTTTTATCTCAGCCTCCTGAGTAGCTGGGACCACAGATGTACAACATGCCTGGCTAAGTTTTTTTTTTTTTTTAAAGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGGGTGCAGTGGCACAATCAGGCTCTCTGCAGCCTCACCCTCCTGGGCTCAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGAACAGGCACACGCCACCACACCCAGCTGATTTTTTTATTTTTATTTTTTGTAGAGATGGAGTCTCAGTATGTTGCCCAAGCTGCCCTCGAACTCCTTCAGAGAATTTACTGTGCTTTGTCTCAGGTGTGCAGAGCAGCACAGGGTTACGGTAGCACAATCTTGGGAGTCAGTGAGCTGGATTGAATTCTGATTGTTCCTGTCTATAGTTCTGTGATCCAGCAC 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GTCCTGGCTTGACTCAGGGGATGTTTCTCAGCTGGGGTCACTTCTTTCTTGCACATCACTATGCATGCCTACCATAGTGTCTGAGGACGTAGGATCTAGCCCTGGTATGAGGCCCTAGGTCTGTTAGTATCTGGGGAGGAAGGATCTGGTACAGGTATGAGGACCTGGGTCTGTCCATGTCTGAGGAGGTGGGATTTGGCCATAGGGTGGGGCTGCAAGCTGGAATCCCTTATAGCCTGCACTGCCTTTATCCCTCCAGAAAAGCAAGTGTGTATCTAGTCTGTGGTGGCCTCTTTGGACTACATGGCCCTCTTCTCCCTTGGGATCTCCAGAGCCCCCCGAGAGGCTTAGCAGGCCCTCTCCTAGTCACATTATGTCCCAGAAAGCTTTTCCACACCTGTCCCTGCTTTTTTTTTTTTGAACAGATTCTCACTCTGTTTCCCAGGCAGGAGTGCAGTGGCGCGATCTCGGCTCATTGCAACCTCCGCTTCCTGAGTTCAAGCAATTCCTGTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGCATGCACCACCTTGCCTGGCTAATTTTTGTATTTTTAGTGGAAACGGGGTTTCACTATGTTGCCCAGGCTGGTTTCGAACTCCTGGCCTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAACCCTATCCTTGCTTTTGTTTAGTACAAAGCCAGTCCCTGTCCAGCAGCTCTTGAGTTGCTCTGGGCAGGTACAGAAGGCTTCACCAACACCTGGAAGCAAATCCTGTGACTGAAGGAGAGGCCAAGGTTCCCCAAATCCCAGCTGCCTTGGTGAGGGTTGCCATGACCAGGGCCCAGGTGGGTACCCAAAGCCTAGCATTTAGTTGTGGTGACAGCCCTCAAAGGCTGTACTCTTAGCCAGGCATGGTGGCTGATGCCTGCAATCCCAGCACCTTGGGAGGCAGAGGCTGGGGGGAATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACGTAGTGAGGCCCGGTCTCTACAAAAAAAACCCACAAAAACTAACAGTAGCCAGGCATGGTGGTGCGGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAAGAGGCTTGCTTGAGCCCAAGAGGTCGAGGCTTCAGTGAGCAATGATTCTACCACTGTACTCCAGCCTGAGTGACAGAGTGAGACTCTGTCTCTTTGGGAAAAAAAGAAGCTGTGCACTCTGGACCCCAGCCTGCTCTCCCTTAAGAAATGAGCTGATTTTGTGACCGATTTTGTCTTTAGGGAGGTCCTTGCCTGACCTCCAGACCCACCTTTTCCTGGGCATGAGTCCTTCCTGCACAGTGGCTTAAGCAGGAAAGGTTGGGAGGCTGTGTCCTCACTGGTGTGGGGAGGAAGGGGATCGTGCCTGTGGACACGTGTGCAGGTCCACCTCACGGTGTCAGGGCAGGGTGGGTCTGCCTGGAGCATCTGGGCAGGACTTTGGCATGGTGCAGGAAGGAGCAGGATTTGCGTACAGTGTGTGAAGGATCAAGACTTGCAGGAAGAGGGTTGGGTTTTTTTTCTTTCTTTTCCTTTCTTTTCCTTTTTTTTTTTTTTTCTTTTTTTTTGAGTTGGAGTTTTGCTCTTGTTGCCCAGTCTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGCATGCGCCATCACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTAATCAGGCTGGTCTCAAACTTCCAACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGCTTGAGCCACTGCGCTCAGCCTCTTTCTTTCTTTTTAAATGTTCTTTCATTTTGCCAAGAACTGGGTTTCTGTTCCTTTTCCAGGGCGACATGGAGTCCAATGGGAAATACATCACCAAATCTGGAACCCGTGTGGACCACCAGAGAGGCCCCATTGTGTGGGGGGAGCCAGGGACCAATGGCCAGCATGCTTTTTACCAGCTCATCCACCAAGGTAGGCCCCTGTGGCCTGGGAAGGGTGATGTTGGGGGAGGGAAAGGATCTTCCAGAAGAGATATCTCACTTAGGTCAGTGCCCTCCTCTAGGCCATATGGCTAGCTCCCATGGGCTGGGGTCATGTGGGTGACCACAGTGCCCTTCACAGGCACCAAGATGATACCCTGTGACTTCCTCATCCCGGTCCAGACCCAGCACCCCATACGGAAGGGTCTGCATCACAAGGTAAGAGCCCCCATCTGGCCCCATCTGGGGGGTCTGGCTCACATTGCACCCAGACCTCTGAAAACCTGGTGCATTGGTTGGCAATCACGTTAGTTTTCTATTCCTGCCGTAACAAATGATAACAAACATGGAGGCTTAAAACAACACTCTTCTTTTGTGGGGTGGGGAGGGGGGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTTCCCCTCCCGGCCTCAAGTGATTCTTATGCCTCAGCCTCCCAAGTAGCTGGGACTACTGGCACTCACCACCATGGCCAGCTAATTTTTGTAGTTTTGGTAAAGGGGGGGTTTCACTATGTTGGCCAGGCTGGTCTTGAACTCATGACCTCAAGTAATCTACCTGCCTCGGCCTCCCTAAGTGCTGGGATTATAGGCATGAGCCACCTTCCTGGGCTATCTGAAGAGTTTCTGAAGCTCAAATATCCAGCAGGCCCTGATGTGTCTCTGCTTAGAGTCTTGCAGGCTGAAATCAAGGTGTCATCAGGACTGTGTTTCTTTCTGGAGACCTTAGGGGAAAAGCCTTTGACCTGCTTGTCAGGTGGTTGGCAGAATTCATTTCTCTATGGTTGTGGAACTGAAGTCCAGCTTCCTTGCTGTGGGCTGAAGGTCGTTCTCAGATTCTCAGAGGTCACCTGCATCCTCTAGCTTGTGGGCCTCTTCACTGCAGAACCAGCAATGGCAGGTTAAATCCTTCTCTGAAGCTTTGATTCTGTCTTGCCACTTCTGTTGCATCTCTCTGACTTGTTTACCTTCCTCTTCTACATTTTGCTTTTGTTCCCTAAGTGACAGTGTCATGCTGTGTTGTCTAGGCTGGACTTACAGTGGCATGATCACAGTTCACTGTATTCTCAACGTCCCAGGCTCAAGCAGTCTTCCTGCCTCGGCCCCTCAAATAGCTGAGACTTACAGGCACTAACAGGCACTTACAGGCACTTACAGGCACTAACAGCCTGGCTAACTGTTAAACTTTTTGTAGAGGCCAGATTTCACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGTGATTCTCCTGCCTCGGCCTCCCAAAGTTTTGGGATTACAGGCATGAGCTACCGTGCCTGGCCCTCTTTTACTTTTAAGGGCCAGTGTGATTAGATTGGGGCTACTAGATAATCCAGGAAAATCTCCCCTTTTGTTTATTTTATTTATTTATTTTATTTTAGAGATAGCATGTCACTCTGTTGCTGAGGCTGGAGTGCACTGGCCCAATCATAGCTCACTACAGCCTTGAACTCCTGGGCTCAAGCAATCCTTTTATCTCAGCCTCCTGAGTAGCTGGGACCACAGATGTACAACATGCCTGGCTAAGTTTTTTTTTTTTTTTAAAGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGGGTGCAGTGGCACAATCAGGCTCTCTGCAGCCTCACCCTCCTGGGCTCAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGAACAGGCACACGCCACCACACCCAGCTGATTTTTTTATTTTTATTTTTTGTAGAGATGGAGTCTCAGTATGTTGCCCAAGCTGCCCTCGAACTCCTTCAGAGAATTTACTGTGCTTTGTCTCAGGTGTGCAGAGCAGCACAGGGTTACGGTAGCACAATCTTGGGAGTCAGTGAGCTGGATTGAATTCTGATTGTTCCTGTCTATAGTTCTGTGATCCAGCAC 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Task1_train_27022 | The variant affects gene GPI (glucose-6-phosphate isomerase), which is on Chromosome 19. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hemolytic anemia due to glucophosphate isomerase deficiency | AGGCTGGACTTACAGTGGCATGATCACAGTTCACTGTATTCTCAACGTCCCAGGCTCAAGCAGTCTTCCTGCCTCGGCCCCTCAAATAGCTGAGACTTACAGGCACTAACAGGCACTTACAGGCACTTACAGGCACTAACAGCCTGGCTAACTGTTAAACTTTTTGTAGAGGCCAGATTTCACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGTGATTCTCCTGCCTCGGCCTCCCAAAGTTTTGGGATTACAGGCATGAGCTACCGTGCCTGGCCCTCTTTTACTTTTAAGGGCCAGTGTGATTAGATTGGGGCTACTAGATAATCCAGGAAAATCTCCCCTTTTGTTTATTTTATTTATTTATTTTATTTTAGAGATAGCATGTCACTCTGTTGCTGAGGCTGGAGTGCACTGGCCCAATCATAGCTCACTACAGCCTTGAACTCCTGGGCTCAAGCAATCCTTTTATCTCAGCCTCCTGAGTAGCTGGGACCACAGATGTACAACATGCCTGGCTAAGTTTTTTTTTTTTTTTAAAGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGGGTGCAGTGGCACAATCAGGCTCTCTGCAGCCTCACCCTCCTGGGCTCAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGAACAGGCACACGCCACCACACCCAGCTGATTTTTTTATTTTTATTTTTTGTAGAGATGGAGTCTCAGTATGTTGCCCAAGCTGCCCTCGAACTCCTTCAGAGAATTTACTGTGCTTTGTCTCAGGTGTGCAGAGCAGCACAGGGTTACGGTAGCACAATCTTGGGAGTCAGTGAGCTGGATTGAATTCTGATTGTTCCTGTCTATAGTTCTGTGATCCAGCACTGTGGACTTGTGGAACCCAAGGCTCTACTAGAACAGGGCGATGATGCCTTTCCTCCTTAGGATCTTAGTATTATTTTTTTTTCGAGACACCGTTTCACTTTGTTGCCCCGGCTGGAGTGCAGTAGTGTGACCTTGACTCACTGCAACCTCAGCCTCCTGGGTTCAAGTGATTCTCGTGCTTAAGCCTCCGGAGTAGCTGGAATTACAGTTGCACACCACCACGCCCAGCTACCTTCTTAGGATCTTAAAAGATAGATGTTGGTAAAATTGTGAGCAGGACCCCTAGCAAGTGGTGTGTAGTTCTTTTTTTTTTTTTGAGATGGAGTCTAGGTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCACCCTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCTGCCTGATGACAGGCATGCGCCACCATGCCCAGCTAAATTTTTTTTTGGTATTTTTAGTAGAGACGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAGCTCCTGACCTCGTGGTCCATCCGCCTCGGCCTCCCAAAGTGTCGGGATTACAGGCGTGAGCCACCGCGCCTGGCCACTGGTGTGTAGTTCTTAAAGAGCAGTTATCACTGTTCCCTGCCTTGTGGTGTCATCGGATGTGTCCCCCTCGCTCCAACTGAGCTGTACAGCGAGTGACCCAGGCTGGGACTGACCCCTGCTGAGAAGTACCAGGCGGTCTTGTCCCTCTGCCTGAAGCCCAGACAGTGCTCTCAAGCATAACTGATGTCTCGCTCATCAGATCCTCCTGGCCAACTTCTTGGCCCAGACAGAGGCCCTGATGAGGGGAAAATCGACGGAGGAGGCCCGAAAGGAGCTCCAGGCTGCGGGCAAGAGTCCAGAGGACCTTGAGAGGCTGCTGCCACATAAGGTCAGCACTTCTGCATTTGGCTTTGGGGTGCATGCTGGAGTTGGAGGTGTGAAGCTATGGCACCAGGCAGGGGCTTGGGGCGTGCCTGGCTTGTCCTACAGAATGGGAGGGCCTGTCCTCACAGACCTGCACGTCTCAGCCTCTGGGGCAGGGTGTGCTTCCCTTCAAGGGGTTTAGGGATCAGGACTCTCTTGGAGACATTCCTTGGTGTTTTCTGCAGGTCTTTGAAGGAAATCGCCCAACCAACTCTATTGTGTTCACCAAGCTCACACCATTCATGCTTGGAGCCTTGGTCGGTGAGTGAGTAGGGGAAAGGTCCTGGCTTGGGGTAGGTTGGAATGGGCTTGTGGAGCCCTGATGTGCCCTGTCTGTCACTTCTGCAGCCATGTATGAGCACAAGATCTTCGTTCAGGGCATCATCTGGGACATCAACAGCTTTGACCAGTGGGGGTGAGTTGCTCACTTAGGGGAGGGCCGGGAATACCTTTGTGTCGGCTCAGGGATTTCAGTAGCAACGTTAGAGCCTTCCTCATACCACTCTTCCCTTCCCTTCCCTTCTTGGCAGAGTGGAGCTGGGAAAGCAGCTGGCTAAGAAAATAGAGCCTGAGCTTGATGGCAGTGCTCAAGTGACCTCTCACGACGCTTCTACCAATGGGCTCATCAACTTCATCAAGCAGCAGCGCGAGGCCAGAGTCCAATAAACTCGTGCTCATCTGCAGCCTCCTCTGTGACTCCCCTTTCTCTTCTCGTCCCTCCTCCCCGGAGCCGGCACTGCATGTTCCTGGACACCACCCAGAGCACCCTCTGGTTGTGGGCTTGGACCACGAGCCCTTAGCAGGGAAGGCTGGTCTCCCCCAGCCTAACCCCCAGCCCCTCCATGTCTATGCTCCCTCTGTGTTAGAATTGGCTGAAGTGTTTTTGTGCAGCTGACTTTTCTGACCCATGTTCACGTTGTTCACATCCCATGTAGAAAAATAAAGATGCCACGGAGGAGGTTGTAGGCTCAGCCTCTGATTTTTTTTTTCCTGTGATGGTGCTTTATGTAGCAGAGGGCAGGAGCGCTCAGCAGGACGCAGGCTGTGCCTCTGCGGACACTTAACACTAAGTGGTGAGCGGGTCTAGAGTGGAGCAAGGTGCCCTGAGAAGACAATAGTGGGGTGGGGGCACAATCAGTCAGGACGGCAACTTGGCCTGTGTCACCAAATCCCAAGACTGTTTTCCACTCCTCACCTCTGTGACTGCAGAAATTGGATACTCTGTTCACTCGATGGTTCTAAAAACTGCATTGAGATTATGTTTGTTTCGGGTGAATTCCTGGACAAGACCGAGGATGACTGCCATCTCCTGGCAAGACGCTCAGGTAGTTCTTTTGCTTTAAAAGGCAGATATTGAAAACTGGAATTTTTTTTTTTTGAGTCTCGCTCTGTCACCCAGACTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACACGGCGCACACCACCATACCCAGCTAATTTTTGTATTTTTAGTAGTGAAGGGGTTTTACCATGTTGGGCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCACAGTGCTGGGATTACAGGTATGAGCCACCACGCCCGGCCCATTTTTTTTTTTTTTTTGACAACTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCCATTGCCCAGACTGGAGTGCAGTGGCATGATCACAGCTCACTGCAGCCAGTAATCCTCTTGCCTCAGCCTCCCAAGTAGTTGAGACTACAGGTTGTACCACTATGCCCTGCTAGTTTTTTCATTTTTTGTAGAGAGACGGGTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAAGCTGGAGTGCAGTAGCACGGTCTCAGCTCATTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGACTCCTGTGTAGCTGGGAGTACAGGCACCTGCCACCATGCCCGGCTAATTTTTTATATATTTTTTTAGCAGAGACAGTGTCTCACTGTGTTAGTCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCAAGGCGGGTCTTGCTGTGTTTCCCAGACTAGACTGGTCTTGAATTCCAGGGCTCAAGAGATCTCCCACCTCAGCCTCCCACAGTGCTGGGATTACAGGC 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AGGCTGGACTTACAGTGGCATGATCACAGTTCACTGTATTCTCAACGTCCCAGGCTCAAGCAGTCTTCCTGCCTCGGCCCCTCAAATAGCTGAGACTTACAGGCACTAACAGGCACTTACAGGCACTTACAGGCACTAACAGCCTGGCTAACTGTTAAACTTTTTGTAGAGGCCAGATTTCACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGTGATTCTCCTGCCTCGGCCTCCCAAAGTTTTGGGATTACAGGCATGAGCTACCGTGCCTGGCCCTCTTTTACTTTTAAGGGCCAGTGTGATTAGATTGGGGCTACTAGATAATCCAGGAAAATCTCCCCTTTTGTTTATTTTATTTATTTATTTTATTTTAGAGATAGCATGTCACTCTGTTGCTGAGGCTGGAGTGCACTGGCCCAATCATAGCTCACTACAGCCTTGAACTCCTGGGCTCAAGCAATCCTTTTATCTCAGCCTCCTGAGTAGCTGGGACCACAGATGTACAACATGCCTGGCTAAGTTTTTTTTTTTTTTTAAAGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGGGTGCAGTGGCACAATCAGGCTCTCTGCAGCCTCACCCTCCTGGGCTCAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGAACAGGCACACGCCACCACACCCAGCTGATTTTTTTATTTTTATTTTTTGTAGAGATGGAGTCTCAGTATGTTGCCCAAGCTGCCCTCGAACTCCTTCAGAGAATTTACTGTGCTTTGTCTCAGGTGTGCAGAGCAGCACAGGGTTACGGTAGCACAATCTTGGGAGTCAGTGAGCTGGATTGAATTCTGATTGTTCCTGTCTATAGTTCTGTGATCCAGCACTGTGGACTTGTGGAACCCAAGGCTCTACTAGAACAGGGCGATGATGCCTTTCCTCCTTAGGATCTTAGTATTATTTTTTTTTCGAGACACCGTTTCACTTTGTTGCCCCGGCTGGAGTGCAGTAGTGTGACCTTGACTCACTGCAACCTCAGCCTCCTGGGTTCAAGTGATTCTCGTGCTTAAGCCTCCGGAGTAGCTGGAATTACAGTTGCACACCACCACGCCCAGCTACCTTCTTAGGATCTTAAAAGATAGATGTTGGTAAAATTGTGAGCAGGACCCCTAGCAAGTGGTGTGTAGTTCTTTTTTTTTTTTTGAGATGGAGTCTAGGTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCACCCTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCTGCCTGATGACAGGCATGCGCCACCATGCCCAGCTAAATTTTTTTTTGGTATTTTTAGTAGAGACGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAGCTCCTGACCTCGTGGTCCATCCGCCTCGGCCTCCCAAAGTGTCGGGATTACAGGCGTGAGCCACCGCGCCTGGCCACTGGTGTGTAGTTCTTAAAGAGCAGTTATCACTGTTCCCTGCCTTGTGGTGTCATCGGATGTGTCCCCCTCGCTCCAACTGAGCTGTACAGCGAGTGACCCAGGCTGGGACTGACCCCTGCTGAGAAGTACCAGGCGGTCTTGTCCCTCTGCCTGAAGCCCAGACAGTGCTCTCAAGCATAACTGATGTCTCGCTCATCAGATCCTCCTGGCCAACTTCTTGGCCCAGACAGAGGCCCTGATGAGGGGAAAATCGACGGAGGAGGCCCGAAAGGAGCTCCAGGCTGCGGGCAAGAGTCCAGAGGACCTTGAGAGGCTGCTGCCACATAAGGTCAGCACTTCTGCATTTGGCTTTGGGGTGCATGCTGGAGTTGGAGGTGTGAAGCTATGGCACCAGGCAGGGGCTTGGGGCGTGCCTGGCTTGTCCTACAGAATGGGAGGGCCTGTCCTCACAGACCTGCACGTCTCAGCCTCTGGGGCAGGGTGTGCTTCCCTTCAAGGGGTTTAGGGATCAGGACTCTCTTGGAGACATTCCTTGGTGTTTTCTGCAGGTCTTTGAAGGAAATTGCCCAACCAACTCTATTGTGTTCACCAAGCTCACACCATTCATGCTTGGAGCCTTGGTCGGTGAGTGAGTAGGGGAAAGGTCCTGGCTTGGGGTAGGTTGGAATGGGCTTGTGGAGCCCTGATGTGCCCTGTCTGTCACTTCTGCAGCCATGTATGAGCACAAGATCTTCGTTCAGGGCATCATCTGGGACATCAACAGCTTTGACCAGTGGGGGTGAGTTGCTCACTTAGGGGAGGGCCGGGAATACCTTTGTGTCGGCTCAGGGATTTCAGTAGCAACGTTAGAGCCTTCCTCATACCACTCTTCCCTTCCCTTCCCTTCTTGGCAGAGTGGAGCTGGGAAAGCAGCTGGCTAAGAAAATAGAGCCTGAGCTTGATGGCAGTGCTCAAGTGACCTCTCACGACGCTTCTACCAATGGGCTCATCAACTTCATCAAGCAGCAGCGCGAGGCCAGAGTCCAATAAACTCGTGCTCATCTGCAGCCTCCTCTGTGACTCCCCTTTCTCTTCTCGTCCCTCCTCCCCGGAGCCGGCACTGCATGTTCCTGGACACCACCCAGAGCACCCTCTGGTTGTGGGCTTGGACCACGAGCCCTTAGCAGGGAAGGCTGGTCTCCCCCAGCCTAACCCCCAGCCCCTCCATGTCTATGCTCCCTCTGTGTTAGAATTGGCTGAAGTGTTTTTGTGCAGCTGACTTTTCTGACCCATGTTCACGTTGTTCACATCCCATGTAGAAAAATAAAGATGCCACGGAGGAGGTTGTAGGCTCAGCCTCTGATTTTTTTTTTCCTGTGATGGTGCTTTATGTAGCAGAGGGCAGGAGCGCTCAGCAGGACGCAGGCTGTGCCTCTGCGGACACTTAACACTAAGTGGTGAGCGGGTCTAGAGTGGAGCAAGGTGCCCTGAGAAGACAATAGTGGGGTGGGGGCACAATCAGTCAGGACGGCAACTTGGCCTGTGTCACCAAATCCCAAGACTGTTTTCCACTCCTCACCTCTGTGACTGCAGAAATTGGATACTCTGTTCACTCGATGGTTCTAAAAACTGCATTGAGATTATGTTTGTTTCGGGTGAATTCCTGGACAAGACCGAGGATGACTGCCATCTCCTGGCAAGACGCTCAGGTAGTTCTTTTGCTTTAAAAGGCAGATATTGAAAACTGGAATTTTTTTTTTTTGAGTCTCGCTCTGTCACCCAGACTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACACGGCGCACACCACCATACCCAGCTAATTTTTGTATTTTTAGTAGTGAAGGGGTTTTACCATGTTGGGCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCACAGTGCTGGGATTACAGGTATGAGCCACCACGCCCGGCCCATTTTTTTTTTTTTTTTGACAACTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCCATTGCCCAGACTGGAGTGCAGTGGCATGATCACAGCTCACTGCAGCCAGTAATCCTCTTGCCTCAGCCTCCCAAGTAGTTGAGACTACAGGTTGTACCACTATGCCCTGCTAGTTTTTTCATTTTTTGTAGAGAGACGGGTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAAGCTGGAGTGCAGTAGCACGGTCTCAGCTCATTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGACTCCTGTGTAGCTGGGAGTACAGGCACCTGCCACCATGCCCGGCTAATTTTTTATATATTTTTTTAGCAGAGACAGTGTCTCACTGTGTTAGTCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCAAGGCGGGTCTTGCTGTGTTTCCCAGACTAGACTGGTCTTGAATTCCAGGGCTCAAGAGATCTCCCACCTCAGCCTCCCACAGTGCTGGGATTACAGGC 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Task1_train_27023 | This variant lies on Chromosome 19 and affects the gene GPI (glucose-6-phosphate isomerase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hemolytic anemia due to glucophosphate isomerase deficiency | GGCTGGACTTACAGTGGCATGATCACAGTTCACTGTATTCTCAACGTCCCAGGCTCAAGCAGTCTTCCTGCCTCGGCCCCTCAAATAGCTGAGACTTACAGGCACTAACAGGCACTTACAGGCACTTACAGGCACTAACAGCCTGGCTAACTGTTAAACTTTTTGTAGAGGCCAGATTTCACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGTGATTCTCCTGCCTCGGCCTCCCAAAGTTTTGGGATTACAGGCATGAGCTACCGTGCCTGGCCCTCTTTTACTTTTAAGGGCCAGTGTGATTAGATTGGGGCTACTAGATAATCCAGGAAAATCTCCCCTTTTGTTTATTTTATTTATTTATTTTATTTTAGAGATAGCATGTCACTCTGTTGCTGAGGCTGGAGTGCACTGGCCCAATCATAGCTCACTACAGCCTTGAACTCCTGGGCTCAAGCAATCCTTTTATCTCAGCCTCCTGAGTAGCTGGGACCACAGATGTACAACATGCCTGGCTAAGTTTTTTTTTTTTTTTAAAGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGGGTGCAGTGGCACAATCAGGCTCTCTGCAGCCTCACCCTCCTGGGCTCAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGAACAGGCACACGCCACCACACCCAGCTGATTTTTTTATTTTTATTTTTTGTAGAGATGGAGTCTCAGTATGTTGCCCAAGCTGCCCTCGAACTCCTTCAGAGAATTTACTGTGCTTTGTCTCAGGTGTGCAGAGCAGCACAGGGTTACGGTAGCACAATCTTGGGAGTCAGTGAGCTGGATTGAATTCTGATTGTTCCTGTCTATAGTTCTGTGATCCAGCACTGTGGACTTGTGGAACCCAAGGCTCTACTAGAACAGGGCGATGATGCCTTTCCTCCTTAGGATCTTAGTATTATTTTTTTTTCGAGACACCGTTTCACTTTGTTGCCCCGGCTGGAGTGCAGTAGTGTGACCTTGACTCACTGCAACCTCAGCCTCCTGGGTTCAAGTGATTCTCGTGCTTAAGCCTCCGGAGTAGCTGGAATTACAGTTGCACACCACCACGCCCAGCTACCTTCTTAGGATCTTAAAAGATAGATGTTGGTAAAATTGTGAGCAGGACCCCTAGCAAGTGGTGTGTAGTTCTTTTTTTTTTTTTGAGATGGAGTCTAGGTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCACCCTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCTGCCTGATGACAGGCATGCGCCACCATGCCCAGCTAAATTTTTTTTTGGTATTTTTAGTAGAGACGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAGCTCCTGACCTCGTGGTCCATCCGCCTCGGCCTCCCAAAGTGTCGGGATTACAGGCGTGAGCCACCGCGCCTGGCCACTGGTGTGTAGTTCTTAAAGAGCAGTTATCACTGTTCCCTGCCTTGTGGTGTCATCGGATGTGTCCCCCTCGCTCCAACTGAGCTGTACAGCGAGTGACCCAGGCTGGGACTGACCCCTGCTGAGAAGTACCAGGCGGTCTTGTCCCTCTGCCTGAAGCCCAGACAGTGCTCTCAAGCATAACTGATGTCTCGCTCATCAGATCCTCCTGGCCAACTTCTTGGCCCAGACAGAGGCCCTGATGAGGGGAAAATCGACGGAGGAGGCCCGAAAGGAGCTCCAGGCTGCGGGCAAGAGTCCAGAGGACCTTGAGAGGCTGCTGCCACATAAGGTCAGCACTTCTGCATTTGGCTTTGGGGTGCATGCTGGAGTTGGAGGTGTGAAGCTATGGCACCAGGCAGGGGCTTGGGGCGTGCCTGGCTTGTCCTACAGAATGGGAGGGCCTGTCCTCACAGACCTGCACGTCTCAGCCTCTGGGGCAGGGTGTGCTTCCCTTCAAGGGGTTTAGGGATCAGGACTCTCTTGGAGACATTCCTTGGTGTTTTCTGCAGGTCTTTGAAGGAAATCGCCCAACCAACTCTATTGTGTTCACCAAGCTCACACCATTCATGCTTGGAGCCTTGGTCGGTGAGTGAGTAGGGGAAAGGTCCTGGCTTGGGGTAGGTTGGAATGGGCTTGTGGAGCCCTGATGTGCCCTGTCTGTCACTTCTGCAGCCATGTATGAGCACAAGATCTTCGTTCAGGGCATCATCTGGGACATCAACAGCTTTGACCAGTGGGGGTGAGTTGCTCACTTAGGGGAGGGCCGGGAATACCTTTGTGTCGGCTCAGGGATTTCAGTAGCAACGTTAGAGCCTTCCTCATACCACTCTTCCCTTCCCTTCCCTTCTTGGCAGAGTGGAGCTGGGAAAGCAGCTGGCTAAGAAAATAGAGCCTGAGCTTGATGGCAGTGCTCAAGTGACCTCTCACGACGCTTCTACCAATGGGCTCATCAACTTCATCAAGCAGCAGCGCGAGGCCAGAGTCCAATAAACTCGTGCTCATCTGCAGCCTCCTCTGTGACTCCCCTTTCTCTTCTCGTCCCTCCTCCCCGGAGCCGGCACTGCATGTTCCTGGACACCACCCAGAGCACCCTCTGGTTGTGGGCTTGGACCACGAGCCCTTAGCAGGGAAGGCTGGTCTCCCCCAGCCTAACCCCCAGCCCCTCCATGTCTATGCTCCCTCTGTGTTAGAATTGGCTGAAGTGTTTTTGTGCAGCTGACTTTTCTGACCCATGTTCACGTTGTTCACATCCCATGTAGAAAAATAAAGATGCCACGGAGGAGGTTGTAGGCTCAGCCTCTGATTTTTTTTTTCCTGTGATGGTGCTTTATGTAGCAGAGGGCAGGAGCGCTCAGCAGGACGCAGGCTGTGCCTCTGCGGACACTTAACACTAAGTGGTGAGCGGGTCTAGAGTGGAGCAAGGTGCCCTGAGAAGACAATAGTGGGGTGGGGGCACAATCAGTCAGGACGGCAACTTGGCCTGTGTCACCAAATCCCAAGACTGTTTTCCACTCCTCACCTCTGTGACTGCAGAAATTGGATACTCTGTTCACTCGATGGTTCTAAAAACTGCATTGAGATTATGTTTGTTTCGGGTGAATTCCTGGACAAGACCGAGGATGACTGCCATCTCCTGGCAAGACGCTCAGGTAGTTCTTTTGCTTTAAAAGGCAGATATTGAAAACTGGAATTTTTTTTTTTTGAGTCTCGCTCTGTCACCCAGACTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACACGGCGCACACCACCATACCCAGCTAATTTTTGTATTTTTAGTAGTGAAGGGGTTTTACCATGTTGGGCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCACAGTGCTGGGATTACAGGTATGAGCCACCACGCCCGGCCCATTTTTTTTTTTTTTTTGACAACTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCCATTGCCCAGACTGGAGTGCAGTGGCATGATCACAGCTCACTGCAGCCAGTAATCCTCTTGCCTCAGCCTCCCAAGTAGTTGAGACTACAGGTTGTACCACTATGCCCTGCTAGTTTTTTCATTTTTTGTAGAGAGACGGGTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAAGCTGGAGTGCAGTAGCACGGTCTCAGCTCATTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGACTCCTGTGTAGCTGGGAGTACAGGCACCTGCCACCATGCCCGGCTAATTTTTTATATATTTTTTTAGCAGAGACAGTGTCTCACTGTGTTAGTCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCAAGGCGGGTCTTGCTGTGTTTCCCAGACTAGACTGGTCTTGAATTCCAGGGCTCAAGAGATCTCCCACCTCAGCCTCCCACAGTGCTGGGATTACAGGCG 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GGCTGGACTTACAGTGGCATGATCACAGTTCACTGTATTCTCAACGTCCCAGGCTCAAGCAGTCTTCCTGCCTCGGCCCCTCAAATAGCTGAGACTTACAGGCACTAACAGGCACTTACAGGCACTTACAGGCACTAACAGCCTGGCTAACTGTTAAACTTTTTGTAGAGGCCAGATTTCACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGTGATTCTCCTGCCTCGGCCTCCCAAAGTTTTGGGATTACAGGCATGAGCTACCGTGCCTGGCCCTCTTTTACTTTTAAGGGCCAGTGTGATTAGATTGGGGCTACTAGATAATCCAGGAAAATCTCCCCTTTTGTTTATTTTATTTATTTATTTTATTTTAGAGATAGCATGTCACTCTGTTGCTGAGGCTGGAGTGCACTGGCCCAATCATAGCTCACTACAGCCTTGAACTCCTGGGCTCAAGCAATCCTTTTATCTCAGCCTCCTGAGTAGCTGGGACCACAGATGTACAACATGCCTGGCTAAGTTTTTTTTTTTTTTTAAAGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGGGTGCAGTGGCACAATCAGGCTCTCTGCAGCCTCACCCTCCTGGGCTCAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGAACAGGCACACGCCACCACACCCAGCTGATTTTTTTATTTTTATTTTTTGTAGAGATGGAGTCTCAGTATGTTGCCCAAGCTGCCCTCGAACTCCTTCAGAGAATTTACTGTGCTTTGTCTCAGGTGTGCAGAGCAGCACAGGGTTACGGTAGCACAATCTTGGGAGTCAGTGAGCTGGATTGAATTCTGATTGTTCCTGTCTATAGTTCTGTGATCCAGCACTGTGGACTTGTGGAACCCAAGGCTCTACTAGAACAGGGCGATGATGCCTTTCCTCCTTAGGATCTTAGTATTATTTTTTTTTCGAGACACCGTTTCACTTTGTTGCCCCGGCTGGAGTGCAGTAGTGTGACCTTGACTCACTGCAACCTCAGCCTCCTGGGTTCAAGTGATTCTCGTGCTTAAGCCTCCGGAGTAGCTGGAATTACAGTTGCACACCACCACGCCCAGCTACCTTCTTAGGATCTTAAAAGATAGATGTTGGTAAAATTGTGAGCAGGACCCCTAGCAAGTGGTGTGTAGTTCTTTTTTTTTTTTTGAGATGGAGTCTAGGTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCACCCTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCTGCCTGATGACAGGCATGCGCCACCATGCCCAGCTAAATTTTTTTTTGGTATTTTTAGTAGAGACGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAGCTCCTGACCTCGTGGTCCATCCGCCTCGGCCTCCCAAAGTGTCGGGATTACAGGCGTGAGCCACCGCGCCTGGCCACTGGTGTGTAGTTCTTAAAGAGCAGTTATCACTGTTCCCTGCCTTGTGGTGTCATCGGATGTGTCCCCCTCGCTCCAACTGAGCTGTACAGCGAGTGACCCAGGCTGGGACTGACCCCTGCTGAGAAGTACCAGGCGGTCTTGTCCCTCTGCCTGAAGCCCAGACAGTGCTCTCAAGCATAACTGATGTCTCGCTCATCAGATCCTCCTGGCCAACTTCTTGGCCCAGACAGAGGCCCTGATGAGGGGAAAATCGACGGAGGAGGCCCGAAAGGAGCTCCAGGCTGCGGGCAAGAGTCCAGAGGACCTTGAGAGGCTGCTGCCACATAAGGTCAGCACTTCTGCATTTGGCTTTGGGGTGCATGCTGGAGTTGGAGGTGTGAAGCTATGGCACCAGGCAGGGGCTTGGGGCGTGCCTGGCTTGTCCTACAGAATGGGAGGGCCTGTCCTCACAGACCTGCACGTCTCAGCCTCTGGGGCAGGGTGTGCTTCCCTTCAAGGGGTTTAGGGATCAGGACTCTCTTGGAGACATTCCTTGGTGTTTTCTGCAGGTCTTTGAAGGAAATCACCCAACCAACTCTATTGTGTTCACCAAGCTCACACCATTCATGCTTGGAGCCTTGGTCGGTGAGTGAGTAGGGGAAAGGTCCTGGCTTGGGGTAGGTTGGAATGGGCTTGTGGAGCCCTGATGTGCCCTGTCTGTCACTTCTGCAGCCATGTATGAGCACAAGATCTTCGTTCAGGGCATCATCTGGGACATCAACAGCTTTGACCAGTGGGGGTGAGTTGCTCACTTAGGGGAGGGCCGGGAATACCTTTGTGTCGGCTCAGGGATTTCAGTAGCAACGTTAGAGCCTTCCTCATACCACTCTTCCCTTCCCTTCCCTTCTTGGCAGAGTGGAGCTGGGAAAGCAGCTGGCTAAGAAAATAGAGCCTGAGCTTGATGGCAGTGCTCAAGTGACCTCTCACGACGCTTCTACCAATGGGCTCATCAACTTCATCAAGCAGCAGCGCGAGGCCAGAGTCCAATAAACTCGTGCTCATCTGCAGCCTCCTCTGTGACTCCCCTTTCTCTTCTCGTCCCTCCTCCCCGGAGCCGGCACTGCATGTTCCTGGACACCACCCAGAGCACCCTCTGGTTGTGGGCTTGGACCACGAGCCCTTAGCAGGGAAGGCTGGTCTCCCCCAGCCTAACCCCCAGCCCCTCCATGTCTATGCTCCCTCTGTGTTAGAATTGGCTGAAGTGTTTTTGTGCAGCTGACTTTTCTGACCCATGTTCACGTTGTTCACATCCCATGTAGAAAAATAAAGATGCCACGGAGGAGGTTGTAGGCTCAGCCTCTGATTTTTTTTTTCCTGTGATGGTGCTTTATGTAGCAGAGGGCAGGAGCGCTCAGCAGGACGCAGGCTGTGCCTCTGCGGACACTTAACACTAAGTGGTGAGCGGGTCTAGAGTGGAGCAAGGTGCCCTGAGAAGACAATAGTGGGGTGGGGGCACAATCAGTCAGGACGGCAACTTGGCCTGTGTCACCAAATCCCAAGACTGTTTTCCACTCCTCACCTCTGTGACTGCAGAAATTGGATACTCTGTTCACTCGATGGTTCTAAAAACTGCATTGAGATTATGTTTGTTTCGGGTGAATTCCTGGACAAGACCGAGGATGACTGCCATCTCCTGGCAAGACGCTCAGGTAGTTCTTTTGCTTTAAAAGGCAGATATTGAAAACTGGAATTTTTTTTTTTTGAGTCTCGCTCTGTCACCCAGACTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACACGGCGCACACCACCATACCCAGCTAATTTTTGTATTTTTAGTAGTGAAGGGGTTTTACCATGTTGGGCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCACAGTGCTGGGATTACAGGTATGAGCCACCACGCCCGGCCCATTTTTTTTTTTTTTTTGACAACTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCCATTGCCCAGACTGGAGTGCAGTGGCATGATCACAGCTCACTGCAGCCAGTAATCCTCTTGCCTCAGCCTCCCAAGTAGTTGAGACTACAGGTTGTACCACTATGCCCTGCTAGTTTTTTCATTTTTTGTAGAGAGACGGGTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAAGCTGGAGTGCAGTAGCACGGTCTCAGCTCATTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGACTCCTGTGTAGCTGGGAGTACAGGCACCTGCCACCATGCCCGGCTAATTTTTTATATATTTTTTTAGCAGAGACAGTGTCTCACTGTGTTAGTCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCAAGGCGGGTCTTGCTGTGTTTCCCAGACTAGACTGGTCTTGAATTCCAGGGCTCAAGAGATCTCCCACCTCAGCCTCCCACAGTGCTGGGATTACAGGCG 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Task1_train_27024 | A variant has been detected on Chromosome 19 in GPI (glucose-6-phosphate isomerase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | GCTGAGGCTGGAGTGCACTGGCCCAATCATAGCTCACTACAGCCTTGAACTCCTGGGCTCAAGCAATCCTTTTATCTCAGCCTCCTGAGTAGCTGGGACCACAGATGTACAACATGCCTGGCTAAGTTTTTTTTTTTTTTTAAAGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGGGTGCAGTGGCACAATCAGGCTCTCTGCAGCCTCACCCTCCTGGGCTCAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGAACAGGCACACGCCACCACACCCAGCTGATTTTTTTATTTTTATTTTTTGTAGAGATGGAGTCTCAGTATGTTGCCCAAGCTGCCCTCGAACTCCTTCAGAGAATTTACTGTGCTTTGTCTCAGGTGTGCAGAGCAGCACAGGGTTACGGTAGCACAATCTTGGGAGTCAGTGAGCTGGATTGAATTCTGATTGTTCCTGTCTATAGTTCTGTGATCCAGCACTGTGGACTTGTGGAACCCAAGGCTCTACTAGAACAGGGCGATGATGCCTTTCCTCCTTAGGATCTTAGTATTATTTTTTTTTCGAGACACCGTTTCACTTTGTTGCCCCGGCTGGAGTGCAGTAGTGTGACCTTGACTCACTGCAACCTCAGCCTCCTGGGTTCAAGTGATTCTCGTGCTTAAGCCTCCGGAGTAGCTGGAATTACAGTTGCACACCACCACGCCCAGCTACCTTCTTAGGATCTTAAAAGATAGATGTTGGTAAAATTGTGAGCAGGACCCCTAGCAAGTGGTGTGTAGTTCTTTTTTTTTTTTTGAGATGGAGTCTAGGTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCACCCTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCTGCCTGATGACAGGCATGCGCCACCATGCCCAGCTAAATTTTTTTTTGGTATTTTTAGTAGAGACGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAGCTCCTGACCTCGTGGTCCATCCGCCTCGGCCTCCCAAAGTGTCGGGATTACAGGCGTGAGCCACCGCGCCTGGCCACTGGTGTGTAGTTCTTAAAGAGCAGTTATCACTGTTCCCTGCCTTGTGGTGTCATCGGATGTGTCCCCCTCGCTCCAACTGAGCTGTACAGCGAGTGACCCAGGCTGGGACTGACCCCTGCTGAGAAGTACCAGGCGGTCTTGTCCCTCTGCCTGAAGCCCAGACAGTGCTCTCAAGCATAACTGATGTCTCGCTCATCAGATCCTCCTGGCCAACTTCTTGGCCCAGACAGAGGCCCTGATGAGGGGAAAATCGACGGAGGAGGCCCGAAAGGAGCTCCAGGCTGCGGGCAAGAGTCCAGAGGACCTTGAGAGGCTGCTGCCACATAAGGTCAGCACTTCTGCATTTGGCTTTGGGGTGCATGCTGGAGTTGGAGGTGTGAAGCTATGGCACCAGGCAGGGGCTTGGGGCGTGCCTGGCTTGTCCTACAGAATGGGAGGGCCTGTCCTCACAGACCTGCACGTCTCAGCCTCTGGGGCAGGGTGTGCTTCCCTTCAAGGGGTTTAGGGATCAGGACTCTCTTGGAGACATTCCTTGGTGTTTTCTGCAGGTCTTTGAAGGAAATCGCCCAACCAACTCTATTGTGTTCACCAAGCTCACACCATTCATGCTTGGAGCCTTGGTCGGTGAGTGAGTAGGGGAAAGGTCCTGGCTTGGGGTAGGTTGGAATGGGCTTGTGGAGCCCTGATGTGCCCTGTCTGTCACTTCTGCAGCCATGTATGAGCACAAGATCTTCGTTCAGGGCATCATCTGGGACATCAACAGCTTTGACCAGTGGGGGTGAGTTGCTCACTTAGGGGAGGGCCGGGAATACCTTTGTGTCGGCTCAGGGATTTCAGTAGCAACGTTAGAGCCTTCCTCATACCACTCTTCCCTTCCCTTCCCTTCTTGGCAGAGTGGAGCTGGGAAAGCAGCTGGCTAAGAAAATAGAGCCTGAGCTTGATGGCAGTGCTCAAGTGACCTCTCACGACGCTTCTACCAATGGGCTCATCAACTTCATCAAGCAGCAGCGCGAGGCCAGAGTCCAATAAACTCGTGCTCATCTGCAGCCTCCTCTGTGACTCCCCTTTCTCTTCTCGTCCCTCCTCCCCGGAGCCGGCACTGCATGTTCCTGGACACCACCCAGAGCACCCTCTGGTTGTGGGCTTGGACCACGAGCCCTTAGCAGGGAAGGCTGGTCTCCCCCAGCCTAACCCCCAGCCCCTCCATGTCTATGCTCCCTCTGTGTTAGAATTGGCTGAAGTGTTTTTGTGCAGCTGACTTTTCTGACCCATGTTCACGTTGTTCACATCCCATGTAGAAAAATAAAGATGCCACGGAGGAGGTTGTAGGCTCAGCCTCTGATTTTTTTTTTCCTGTGATGGTGCTTTATGTAGCAGAGGGCAGGAGCGCTCAGCAGGACGCAGGCTGTGCCTCTGCGGACACTTAACACTAAGTGGTGAGCGGGTCTAGAGTGGAGCAAGGTGCCCTGAGAAGACAATAGTGGGGTGGGGGCACAATCAGTCAGGACGGCAACTTGGCCTGTGTCACCAAATCCCAAGACTGTTTTCCACTCCTCACCTCTGTGACTGCAGAAATTGGATACTCTGTTCACTCGATGGTTCTAAAAACTGCATTGAGATTATGTTTGTTTCGGGTGAATTCCTGGACAAGACCGAGGATGACTGCCATCTCCTGGCAAGACGCTCAGGTAGTTCTTTTGCTTTAAAAGGCAGATATTGAAAACTGGAATTTTTTTTTTTTGAGTCTCGCTCTGTCACCCAGACTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACACGGCGCACACCACCATACCCAGCTAATTTTTGTATTTTTAGTAGTGAAGGGGTTTTACCATGTTGGGCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCACAGTGCTGGGATTACAGGTATGAGCCACCACGCCCGGCCCATTTTTTTTTTTTTTTTGACAACTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCCATTGCCCAGACTGGAGTGCAGTGGCATGATCACAGCTCACTGCAGCCAGTAATCCTCTTGCCTCAGCCTCCCAAGTAGTTGAGACTACAGGTTGTACCACTATGCCCTGCTAGTTTTTTCATTTTTTGTAGAGAGACGGGTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAAGCTGGAGTGCAGTAGCACGGTCTCAGCTCATTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGACTCCTGTGTAGCTGGGAGTACAGGCACCTGCCACCATGCCCGGCTAATTTTTTATATATTTTTTTAGCAGAGACAGTGTCTCACTGTGTTAGTCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCAAGGCGGGTCTTGCTGTGTTTCCCAGACTAGACTGGTCTTGAATTCCAGGGCTCAAGAGATCTCCCACCTCAGCCTCCCACAGTGCTGGGATTACAGGCGTGAGCCGCCACACCCAGCCTATTCAAAATTTTTTTTTCTTAGAGACAGGGTCTTTGTTGCCCAGGCTGGACTGCAGTGATACAATCATAGCTGACTGAAGCCTCAAATTCCCAGGCTAAGGTGATCTTCTCACCTCAGCCTTCCAAGTAGCTGGGTCCGCAGATGCATGCCAGTACACCCAGCTCATTTAAAAAAAAATTTTTTTCTTTTTTGAGAGTCTTGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGCTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAG 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GCTGAGGCTGGAGTGCACTGGCCCAATCATAGCTCACTACAGCCTTGAACTCCTGGGCTCAAGCAATCCTTTTATCTCAGCCTCCTGAGTAGCTGGGACCACAGATGTACAACATGCCTGGCTAAGTTTTTTTTTTTTTTTAAAGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGGGTGCAGTGGCACAATCAGGCTCTCTGCAGCCTCACCCTCCTGGGCTCAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGAACAGGCACACGCCACCACACCCAGCTGATTTTTTTATTTTTATTTTTTGTAGAGATGGAGTCTCAGTATGTTGCCCAAGCTGCCCTCGAACTCCTTCAGAGAATTTACTGTGCTTTGTCTCAGGTGTGCAGAGCAGCACAGGGTTACGGTAGCACAATCTTGGGAGTCAGTGAGCTGGATTGAATTCTGATTGTTCCTGTCTATAGTTCTGTGATCCAGCACTGTGGACTTGTGGAACCCAAGGCTCTACTAGAACAGGGCGATGATGCCTTTCCTCCTTAGGATCTTAGTATTATTTTTTTTTCGAGACACCGTTTCACTTTGTTGCCCCGGCTGGAGTGCAGTAGTGTGACCTTGACTCACTGCAACCTCAGCCTCCTGGGTTCAAGTGATTCTCGTGCTTAAGCCTCCGGAGTAGCTGGAATTACAGTTGCACACCACCACGCCCAGCTACCTTCTTAGGATCTTAAAAGATAGATGTTGGTAAAATTGTGAGCAGGACCCCTAGCAAGTGGTGTGTAGTTCTTTTTTTTTTTTTGAGATGGAGTCTAGGTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCACCCTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCTGCCTGATGACAGGCATGCGCCACCATGCCCAGCTAAATTTTTTTTTGGTATTTTTAGTAGAGACGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAGCTCCTGACCTCGTGGTCCATCCGCCTCGGCCTCCCAAAGTGTCGGGATTACAGGCGTGAGCCACCGCGCCTGGCCACTGGTGTGTAGTTCTTAAAGAGCAGTTATCACTGTTCCCTGCCTTGTGGTGTCATCGGATGTGTCCCCCTCGCTCCAACTGAGCTGTACAGCGAGTGACCCAGGCTGGGACTGACCCCTGCTGAGAAGTACCAGGCGGTCTTGTCCCTCTGCCTGAAGCCCAGACAGTGCTCTCAAGCATAACTGATGTCTCGCTCATCAGATCCTCCTGGCCAACTTCTTGGCCCAGACAGAGGCCCTGATGAGGGGAAAATCGACGGAGGAGGCCCGAAAGGAGCTCCAGGCTGCGGGCAAGAGTCCAGAGGACCTTGAGAGGCTGCTGCCACATAAGGTCAGCACTTCTGCATTTGGCTTTGGGGTGCATGCTGGAGTTGGAGGTGTGAAGCTATGGCACCAGGCAGGGGCTTGGGGCGTGCCTGGCTTGTCCTACAGAATGGGAGGGCCTGTCCTCACAGACCTGCACGTCTCAGCCTCTGGGGCAGGGTGTGCTTCCCTTCAAGGGGTTTAGGGATCAGGACTCTCTTGGAGACATTCCTTGGTGTTTTCTGCAGGTCTTTGAAGGAAATCGCCCAACCAACTCTATTGTGTTCACCAAGCTCACACCATTCATGCTTGGAGCCTTGGTCGGTGAGTGAGTAGGGGAAAGGTCCTGGCTTGGGGTAGGTTGGAATGGGCTTGTGGAGCCCTGATGTGCCCTGTCTGTCACTTCTGCAGCCATGTATGAGCACAAGATCTTCGTTCAGGGCATCATCTGGGACATCAACAGCTTTGACCAGTGGGGGTGAGTTGCTCACTTAGGGGAGGGCCGGGAATACCTTTGTGTCGGCTCAGGGATTTCAGTAGCAACGTTAGAGCCTTCCTCATACCACTCTTCCCTTCCCTTCCCTTCTTGGCAGAGTGGAGCTGGGAAAGCAGCTGGCTAAGAAAATAGAGCCTGAGCTTGATGGCAGTGCTCAAGTGACCTCTCACAACGCTTCTACCAATGGGCTCATCAACTTCATCAAGCAGCAGCGCGAGGCCAGAGTCCAATAAACTCGTGCTCATCTGCAGCCTCCTCTGTGACTCCCCTTTCTCTTCTCGTCCCTCCTCCCCGGAGCCGGCACTGCATGTTCCTGGACACCACCCAGAGCACCCTCTGGTTGTGGGCTTGGACCACGAGCCCTTAGCAGGGAAGGCTGGTCTCCCCCAGCCTAACCCCCAGCCCCTCCATGTCTATGCTCCCTCTGTGTTAGAATTGGCTGAAGTGTTTTTGTGCAGCTGACTTTTCTGACCCATGTTCACGTTGTTCACATCCCATGTAGAAAAATAAAGATGCCACGGAGGAGGTTGTAGGCTCAGCCTCTGATTTTTTTTTTCCTGTGATGGTGCTTTATGTAGCAGAGGGCAGGAGCGCTCAGCAGGACGCAGGCTGTGCCTCTGCGGACACTTAACACTAAGTGGTGAGCGGGTCTAGAGTGGAGCAAGGTGCCCTGAGAAGACAATAGTGGGGTGGGGGCACAATCAGTCAGGACGGCAACTTGGCCTGTGTCACCAAATCCCAAGACTGTTTTCCACTCCTCACCTCTGTGACTGCAGAAATTGGATACTCTGTTCACTCGATGGTTCTAAAAACTGCATTGAGATTATGTTTGTTTCGGGTGAATTCCTGGACAAGACCGAGGATGACTGCCATCTCCTGGCAAGACGCTCAGGTAGTTCTTTTGCTTTAAAAGGCAGATATTGAAAACTGGAATTTTTTTTTTTTGAGTCTCGCTCTGTCACCCAGACTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACACGGCGCACACCACCATACCCAGCTAATTTTTGTATTTTTAGTAGTGAAGGGGTTTTACCATGTTGGGCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCACAGTGCTGGGATTACAGGTATGAGCCACCACGCCCGGCCCATTTTTTTTTTTTTTTTGACAACTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCCATTGCCCAGACTGGAGTGCAGTGGCATGATCACAGCTCACTGCAGCCAGTAATCCTCTTGCCTCAGCCTCCCAAGTAGTTGAGACTACAGGTTGTACCACTATGCCCTGCTAGTTTTTTCATTTTTTGTAGAGAGACGGGTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAAGCTGGAGTGCAGTAGCACGGTCTCAGCTCATTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGACTCCTGTGTAGCTGGGAGTACAGGCACCTGCCACCATGCCCGGCTAATTTTTTATATATTTTTTTAGCAGAGACAGTGTCTCACTGTGTTAGTCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCAAGGCGGGTCTTGCTGTGTTTCCCAGACTAGACTGGTCTTGAATTCCAGGGCTCAAGAGATCTCCCACCTCAGCCTCCCACAGTGCTGGGATTACAGGCGTGAGCCGCCACACCCAGCCTATTCAAAATTTTTTTTTCTTAGAGACAGGGTCTTTGTTGCCCAGGCTGGACTGCAGTGATACAATCATAGCTGACTGAAGCCTCAAATTCCCAGGCTAAGGTGATCTTCTCACCTCAGCCTTCCAAGTAGCTGGGTCCGCAGATGCATGCCAGTACACCCAGCTCATTTAAAAAAAAATTTTTTTCTTTTTTGAGAGTCTTGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGCTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAG 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Task1_train_27025 | A variant on Chromosome 19 in gene SCN1B (sodium voltage-gated channel beta subunit 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Developmental and epileptic encephalopathy, 52 | TGAAAAGGGATAGACGTAGAAAGGTGGAAAGAGATTAGGAGAGGTCTCCTTCTGAGCCCAGAGAGTGGACAAAAAGTGGAGGGACCTTCAGAGAGACCCCTGAGAGGGACAAAGATAGGAGGGACTGAGACAGAGGCCCTCAGGGAGTCTGAAAGGGACCGCAGGGGAGGCGGATGGATGAGAAGTCCTGAGGATCAGGAAACAAGGACAGCACAGGGCTGCAGCAGAAGAGACACAGCGTTAGCTACAGAGTGCTGGGAGGCAGAAAGGAGGTGCCAGGTAAGAGTGTGAAGGAATTCTAAGACTGGAATTCAGTGGGCTGCAAAAGCCCTGGGGCAGGAGAGAGCTCAGGAAAGCTTTGAGTAGTGGATGGGGTTGGGGTGGGAAGAGCTCTAGAGGCGAGGAGCCTGGGGAAGAGGGGATGATGGAGGCAGGAGAGGCCGGGGAGGGGATGGCTCACACAGGGGCTTGTGGGCTGTGGAGAGGGGCTGAGTGTGGGTCAGCCCCGGTTTCAGTGCCCACCTCCCCACAATCCCCCACCCCCAGACCTTTTCTCCCAACCCATTTCTCCTGGAGCTAGCTGGTTTTACAATTTAATGGTGAAAATGACTGCCACCTTAAACTTCTAACTTAGCTGGAATTCTCATTCTACCACCTAGATGCTTGGGTTCCTCCAGCAAGGGACTTTCTGAGGAAGGGGCACTCGGGTAGCATAAAGTCTGAGTTACCGGCAACGTTGACAGTCCCACTTATGGGGCCTCCCATGTACAAGGCCCTACCTAATGTATGAAAATGGGCCCAGCCATTGCTGGAAGCAAAGGACCATTTCTTTCAACAAGAGAGAGGGAAACTGAGACTCAGGGATGAATGACTTGCTGAGGTCACGCAGTGAGTGACAGGGCTCAGCCTAGCATCCAGTCCTGTCTGCTGGTAATCATTGAGGGGGGAACAGATGGTTTGTGAGGGGTCTGGCATTGCTTAGGGCAATGGGTGCCTCTGCCTGACCTGAGCCTGCTGTCCCCACAGTGTCCTCAGCCTGCGGGGGCTGCGTGGAGGTGGACTCGGAGACCGAGGCCGTGTATGGGATGACCTTCAAAATTCTTTGCATCTCCTGCAAGCGCCGCAGCGAGACCAACGCTGAGACCTTCACCGAGTGGACCTTCCGCCAGAAGGGCACTGAGGAGTTTGTCAAGGTGTGCGGGTGCCGGGAACGGGCATGGGAGGGCAGGGGTCCACGAGTGGGAGGCGGTGGGGCTGGATCTCAGGGAGGGGGCTTATTTGTTTAATAATATGCTGTGATTGCTGACCTGGATTCAGATTCTGGCTCCACCAGTGGCCAGCTGGTGACCTTGGCCAAGTCAGTGAGCCTCTCTGAAAGTCAGTTTCCTCCTCGGTAAAGACGGGGTGGCGGTGGTCTCTAGCCCATAGGTTTGTGTGAGGACTGAATGCATTGACGCACCTGGCACACGGTTGGCATGAAATAAATGTCAGTGGACTTATTTGGCACCAGCAAACAATGTCTCTGATAGTCATTACGGAGGGAAGACAGAACTGTTTTTTTTAACCTCCTTTAAACTATGTGTGTATTTTGCATTATATATCGGTGAGGGAACCATAAAATTCTGTGACGTGCTGGAGAGTTGGGGTCTCCAGCTGCTGGAATCAGGCTGCCCTGTCTCTGCTGGAGGAGTGTGTCTGGTGGCTGGGAAAGAACGGCAGAGAATGATAGCCTAGAGGCCAGATGGGGCTTGGGAGGATGACTGAGGAACGTGTGTGTGCTCGTGTGCATCTTGGCTAGAGGCAAAAGCGGGGTCTGGTTGACTCCAGGCGTGATCCTAGCCCCCCACCCCTGTGCCCTCCCTGCCTGAGGTCAAGGTGTCTGAGCCCATCTGTGTGCCATCTGTGTTTGTGGGTGTCAGGGCAGGGGACAGAATCAGGGTCAGGTAAGGGAAGAGAGGCCCAGGCAGTGACACCTTCCCCTCCCTGGCTACCCCTAGATCCTGCGCTATGAGAATGAGGTGTTGCAGCTGGAGGAGGATGAGCGCTTCGAGGGCCGCGTGGTGTGGAATGGCAGCCGGGGCACCAAAGACCTGCAGGATCTGTCTATCTTCATCACCAATGTCACCTACAACCACTCGGGCGACTACGAGTGCCACGTCTACCGCCTGCTCTTCTTCGAAAACTACGAGCACAACACCAGCGTCGTCAAGAAGATCCACATTGAGGTAGTGGACAAAGGTGAGTCGGGTGCTGCCTGCCCCTTTACCGTCACCCACCGGAGAGCCAGATGGAGGGACAGATGGCAGGCAGTGGACAGGACAGGCTGGCTCTGTGCCTGGCCAGCCAACCGCCCACAGCAGCGGGCTGAGGGGGAGGGGAGCAGCCCCTCCTGCCCACTCCAGCTCTGGCCTCTGTTTCTCTCCAGCCCACGGAGAGGTCAAAGCATGCCTGTCCCCCACAGACGCTCCGGGTACAGAACCCAGCTCTGTCACCTGTGCTGTATGACCTCTGGCAGGTGCCTTCTGTCTCTGAGCCAAAGGGTTGTCCTGGGCTTGCCCGGGATAATAATCCGATGTGTTTCTCGGGGTGTGGTTTGAGCCATTCTTCCATCATGGGGTTCATGAGGATTGAGCAGCTGCAGGCACACGCCTGGCTTCCAGCAGAGCCTTGCAGGTGGTGGCGAGGGTGGCGGTTCTTACTGTTCGAGTAGCTCAGCCCTGCTGCCCTCTGTGGTGATGAGGCAAGAGAGCGTGCCACCTAGAGCAGAGTTCCGCACACCCCTCTGCACTCCTGCCCCGGGGGAGCCGCGCTGGCCTGCAGTCTCACTCAACACCTCTGGGGCGGGCCTAGGGGTCCTTTCTAAAGCTCTCAGGTGAGGCAGTGAAGGGCCACAGGTGCGGGGCCCACCCTCTGAGCAGCAAGGGCCTACAGCGCTTTTGAACGTCTCATCATTTTGCCTCAGCCACCCTGGACCCCTTTTCTGAGGGAGGTCCGCCCCTTCTCTGATCCATCTTCTGCTCAGCATCAATTGCAATTGTCCAGCGCCCTGTGGCCACTGGCTTAGAGTTGGGGAAACAGCCCAGGCCTTGAAGCAGCTACAAGCCGTGGCAGAAAGGTCTCTCAGGGCCACGGCACACACATCCTCATGGGCAACACGCACTGCCCATCTTTTCTGTGAGATGGGTGCCGGCCTCAGTGCCTTACACGGAGTCCCTTAGTGAATCCTCTCCCCACCCTCTGGGGTAGGGGCTCTTCCTATCCCCATTTTACGGATGAGAAAACCAAGGCTCAGGGAGGGAAGGTTATGTGGCCAAGGTCATGTGATTGGGAGCTGGACTTGAATCCAGAGGAGCTTGGGTGACTGTGTTTCTGTTCTTGGCATGATTCACTGTACTCTGTGATCAGCCAGAGCCTGTGGGTTTCTTTTTATAATTAGCATTTTTACGTTTATTGTCAAATTGGTGTAGCAGAATGCAATTCAGCAGGCATGTCTGAGCCACTCTGGTGTTTGTCACGATGCTGGGGGGTGGGGGTCACCCGCAGACATGGATGATGGAGCCCCGCCTGCGGAGTTGCTGTGACAAAGATGCCTGCGGTACTGGGACTTTACAAAACCTGTGTTATTGCTCTTGCAAATCTGCAGAGGTGAGATGGGGAGAGGGTGGGAGGCTCCAGGGCACTGTTCAGCCACCCAGGTTCTTTCCATCTTGTTGTTTGGCAGTTGGCCAGGGTGTTGTGTCCTCTGTACGCCGTGACCCAATAGAGCCTCTTTTTTTTTTTTTTTAAATTTAGATTTTTATTTTTTGAGACGGAGTTTTGCTATTATTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCCCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCAAGCCCAGCTAATTTTTGTATTTTTAGTAGATATGGAGTTTCCCCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTAATGATCCACCTGCCTTGGCCTCCCAAGGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTGAGC 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TGAAAAGGGATAGACGTAGAAAGGTGGAAAGAGATTAGGAGAGGTCTCCTTCTGAGCCCAGAGAGTGGACAAAAAGTGGAGGGACCTTCAGAGAGACCCCTGAGAGGGACAAAGATAGGAGGGACTGAGACAGAGGCCCTCAGGGAGTCTGAAAGGGACCGCAGGGGAGGCGGATGGATGAGAAGTCCTGAGGATCAGGAAACAAGGACAGCACAGGGCTGCAGCAGAAGAGACACAGCGTTAGCTACAGAGTGCTGGGAGGCAGAAAGGAGGTGCCAGGTAAGAGTGTGAAGGAATTCTAAGACTGGAATTCAGTGGGCTGCAAAAGCCCTGGGGCAGGAGAGAGCTCAGGAAAGCTTTGAGTAGTGGATGGGGTTGGGGTGGGAAGAGCTCTAGAGGCGAGGAGCCTGGGGAAGAGGGGATGATGGAGGCAGGAGAGGCCGGGGAGGGGATGGCTCACACAGGGGCTTGTGGGCTGTGGAGAGGGGCTGAGTGTGGGTCAGCCCCGGTTTCAGTGCCCACCTCCCCACAATCCCCCACCCCCAGACCTTTTCTCCCAACCCATTTCTCCTGGAGCTAGCTGGTTTTACAATTTAATGGTGAAAATGACTGCCACCTTAAACTTCTAACTTAGCTGGAATTCTCATTCTACCACCTAGATGCTTGGGTTCCTCCAGCAAGGGACTTTCTGAGGAAGGGGCACTCGGGTAGCATAAAGTCTGAGTTACCGGCAACGTTGACAGTCCCACTTATGGGGCCTCCCATGTACAAGGCCCTACCTAATGTATGAAAATGGGCCCAGCCATTGCTGGAAGCAAAGGACCATTTCTTTCAACAAGAGAGAGGGAAACTGAGACTCAGGGATGAATGACTTGCTGAGGTCACGCAGTGAGTGACAGGGCTCAGCCTAGCATCCAGTCCTGTCTGCTGGTAATCATTGAGGGGGGAACAGATGGTTTGTGAGGGGTCTGGCATTGCTTAGGGCAATGGGTGCCTCTGCCTGACCTGAGCCTGCTGTCCCCACAGTGTCCTCAGCCTGCGGGGGCTGCGTGGAGGTGGACTCGGAGACCGAGGCCGTGTATGGGATGACCTTCAAAATTCTTTGCATCTCCTGCAAGCGCCGCAGCGAGACCAACGCTGAGACCTTCACCGAGTGGACCTTCCGCCAGAAGGGCACTGAGGAGTTTGTCAAGGTGTGCGGGTGCCGGGAACGGGCATGGGAGGGCAGGGGTCCACGAGTGGGAGGCGGTGGGGCTGGATCTCAGGGAGGGGGCTTATTTGTTTAATAATATGCTGTGATTGCTGACCTGGATTCAGATTCTGGCTCCACCAGTGGCCAGCTGGTGACCTTGGCCAAGTCAGTGAGCCTCTCTGAAAGTCAGTTTCCTCCTCGGTAAAGACGGGGTGGCGGTGGTCTCTAGCCCATAGGTTTGTGTGAGGACTGAATGCATTGACGCACCTGGCACACGGTTGGCATGAAATAAATGTCAGTGGACTTATTTGGCACCAGCAAACAATGTCTCTGATAGTCATTACGGAGGGAAGACAGAACTGTTTTTTTTAACCTCCTTTAAACTATGTGTGTATTTTGCATTATATATCGGTGAGGGAACCATAAAATTCTGTGACGTGCTGGAGAGTTGGGGTCTCCAGCTGCTGGAATCAGGCTGCCCTGTCTCTGCTGGAGGAGTGTGTCTGGTGGCTGGGAAAGAACGGCAGAGAATGATAGCCTAGAGGCCAGATGGGGCTTGGGAGGATGACTGAGGAACGTGTGTGTGCTCGTGTGCATCTTGGCTAGAGGCAAAAGCGGGGTCTGGTTGACTCCAGGCGTGATCCTAGCCCCCCACCCCTGTGCCCTCCCTGCCTGAGGTCAAGGTGTCTGAGCCCATCTGTGTGCCATCTGTGTTTGTGGGTGTCAGGGCAGGGGACAGAATCAGGGTCAGGTAAGGGAAGAGAGGCCCAGGCAGTGACACCTTCCCCTCCCTGGCTACCCCTAGATCCTGCGCTATGAGAATGAGGTGTTGCAGCTGGAGGAGGATGAGCGCTTCCAGGGCCGCGTGGTGTGGAATGGCAGCCGGGGCACCAAAGACCTGCAGGATCTGTCTATCTTCATCACCAATGTCACCTACAACCACTCGGGCGACTACGAGTGCCACGTCTACCGCCTGCTCTTCTTCGAAAACTACGAGCACAACACCAGCGTCGTCAAGAAGATCCACATTGAGGTAGTGGACAAAGGTGAGTCGGGTGCTGCCTGCCCCTTTACCGTCACCCACCGGAGAGCCAGATGGAGGGACAGATGGCAGGCAGTGGACAGGACAGGCTGGCTCTGTGCCTGGCCAGCCAACCGCCCACAGCAGCGGGCTGAGGGGGAGGGGAGCAGCCCCTCCTGCCCACTCCAGCTCTGGCCTCTGTTTCTCTCCAGCCCACGGAGAGGTCAAAGCATGCCTGTCCCCCACAGACGCTCCGGGTACAGAACCCAGCTCTGTCACCTGTGCTGTATGACCTCTGGCAGGTGCCTTCTGTCTCTGAGCCAAAGGGTTGTCCTGGGCTTGCCCGGGATAATAATCCGATGTGTTTCTCGGGGTGTGGTTTGAGCCATTCTTCCATCATGGGGTTCATGAGGATTGAGCAGCTGCAGGCACACGCCTGGCTTCCAGCAGAGCCTTGCAGGTGGTGGCGAGGGTGGCGGTTCTTACTGTTCGAGTAGCTCAGCCCTGCTGCCCTCTGTGGTGATGAGGCAAGAGAGCGTGCCACCTAGAGCAGAGTTCCGCACACCCCTCTGCACTCCTGCCCCGGGGGAGCCGCGCTGGCCTGCAGTCTCACTCAACACCTCTGGGGCGGGCCTAGGGGTCCTTTCTAAAGCTCTCAGGTGAGGCAGTGAAGGGCCACAGGTGCGGGGCCCACCCTCTGAGCAGCAAGGGCCTACAGCGCTTTTGAACGTCTCATCATTTTGCCTCAGCCACCCTGGACCCCTTTTCTGAGGGAGGTCCGCCCCTTCTCTGATCCATCTTCTGCTCAGCATCAATTGCAATTGTCCAGCGCCCTGTGGCCACTGGCTTAGAGTTGGGGAAACAGCCCAGGCCTTGAAGCAGCTACAAGCCGTGGCAGAAAGGTCTCTCAGGGCCACGGCACACACATCCTCATGGGCAACACGCACTGCCCATCTTTTCTGTGAGATGGGTGCCGGCCTCAGTGCCTTACACGGAGTCCCTTAGTGAATCCTCTCCCCACCCTCTGGGGTAGGGGCTCTTCCTATCCCCATTTTACGGATGAGAAAACCAAGGCTCAGGGAGGGAAGGTTATGTGGCCAAGGTCATGTGATTGGGAGCTGGACTTGAATCCAGAGGAGCTTGGGTGACTGTGTTTCTGTTCTTGGCATGATTCACTGTACTCTGTGATCAGCCAGAGCCTGTGGGTTTCTTTTTATAATTAGCATTTTTACGTTTATTGTCAAATTGGTGTAGCAGAATGCAATTCAGCAGGCATGTCTGAGCCACTCTGGTGTTTGTCACGATGCTGGGGGGTGGGGGTCACCCGCAGACATGGATGATGGAGCCCCGCCTGCGGAGTTGCTGTGACAAAGATGCCTGCGGTACTGGGACTTTACAAAACCTGTGTTATTGCTCTTGCAAATCTGCAGAGGTGAGATGGGGAGAGGGTGGGAGGCTCCAGGGCACTGTTCAGCCACCCAGGTTCTTTCCATCTTGTTGTTTGGCAGTTGGCCAGGGTGTTGTGTCCTCTGTACGCCGTGACCCAATAGAGCCTCTTTTTTTTTTTTTTTAAATTTAGATTTTTATTTTTTGAGACGGAGTTTTGCTATTATTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCCCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCAAGCCCAGCTAATTTTTGTATTTTTAGTAGATATGGAGTTTCCCCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTAATGATCCACCTGCCTTGGCCTCCCAAGGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTGAGC 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Task1_train_27026 | The gene SCN1B (sodium voltage-gated channel beta subunit 1) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Cardiomyopathy | TTCTGAGCCCAGAGAGTGGACAAAAAGTGGAGGGACCTTCAGAGAGACCCCTGAGAGGGACAAAGATAGGAGGGACTGAGACAGAGGCCCTCAGGGAGTCTGAAAGGGACCGCAGGGGAGGCGGATGGATGAGAAGTCCTGAGGATCAGGAAACAAGGACAGCACAGGGCTGCAGCAGAAGAGACACAGCGTTAGCTACAGAGTGCTGGGAGGCAGAAAGGAGGTGCCAGGTAAGAGTGTGAAGGAATTCTAAGACTGGAATTCAGTGGGCTGCAAAAGCCCTGGGGCAGGAGAGAGCTCAGGAAAGCTTTGAGTAGTGGATGGGGTTGGGGTGGGAAGAGCTCTAGAGGCGAGGAGCCTGGGGAAGAGGGGATGATGGAGGCAGGAGAGGCCGGGGAGGGGATGGCTCACACAGGGGCTTGTGGGCTGTGGAGAGGGGCTGAGTGTGGGTCAGCCCCGGTTTCAGTGCCCACCTCCCCACAATCCCCCACCCCCAGACCTTTTCTCCCAACCCATTTCTCCTGGAGCTAGCTGGTTTTACAATTTAATGGTGAAAATGACTGCCACCTTAAACTTCTAACTTAGCTGGAATTCTCATTCTACCACCTAGATGCTTGGGTTCCTCCAGCAAGGGACTTTCTGAGGAAGGGGCACTCGGGTAGCATAAAGTCTGAGTTACCGGCAACGTTGACAGTCCCACTTATGGGGCCTCCCATGTACAAGGCCCTACCTAATGTATGAAAATGGGCCCAGCCATTGCTGGAAGCAAAGGACCATTTCTTTCAACAAGAGAGAGGGAAACTGAGACTCAGGGATGAATGACTTGCTGAGGTCACGCAGTGAGTGACAGGGCTCAGCCTAGCATCCAGTCCTGTCTGCTGGTAATCATTGAGGGGGGAACAGATGGTTTGTGAGGGGTCTGGCATTGCTTAGGGCAATGGGTGCCTCTGCCTGACCTGAGCCTGCTGTCCCCACAGTGTCCTCAGCCTGCGGGGGCTGCGTGGAGGTGGACTCGGAGACCGAGGCCGTGTATGGGATGACCTTCAAAATTCTTTGCATCTCCTGCAAGCGCCGCAGCGAGACCAACGCTGAGACCTTCACCGAGTGGACCTTCCGCCAGAAGGGCACTGAGGAGTTTGTCAAGGTGTGCGGGTGCCGGGAACGGGCATGGGAGGGCAGGGGTCCACGAGTGGGAGGCGGTGGGGCTGGATCTCAGGGAGGGGGCTTATTTGTTTAATAATATGCTGTGATTGCTGACCTGGATTCAGATTCTGGCTCCACCAGTGGCCAGCTGGTGACCTTGGCCAAGTCAGTGAGCCTCTCTGAAAGTCAGTTTCCTCCTCGGTAAAGACGGGGTGGCGGTGGTCTCTAGCCCATAGGTTTGTGTGAGGACTGAATGCATTGACGCACCTGGCACACGGTTGGCATGAAATAAATGTCAGTGGACTTATTTGGCACCAGCAAACAATGTCTCTGATAGTCATTACGGAGGGAAGACAGAACTGTTTTTTTTAACCTCCTTTAAACTATGTGTGTATTTTGCATTATATATCGGTGAGGGAACCATAAAATTCTGTGACGTGCTGGAGAGTTGGGGTCTCCAGCTGCTGGAATCAGGCTGCCCTGTCTCTGCTGGAGGAGTGTGTCTGGTGGCTGGGAAAGAACGGCAGAGAATGATAGCCTAGAGGCCAGATGGGGCTTGGGAGGATGACTGAGGAACGTGTGTGTGCTCGTGTGCATCTTGGCTAGAGGCAAAAGCGGGGTCTGGTTGACTCCAGGCGTGATCCTAGCCCCCCACCCCTGTGCCCTCCCTGCCTGAGGTCAAGGTGTCTGAGCCCATCTGTGTGCCATCTGTGTTTGTGGGTGTCAGGGCAGGGGACAGAATCAGGGTCAGGTAAGGGAAGAGAGGCCCAGGCAGTGACACCTTCCCCTCCCTGGCTACCCCTAGATCCTGCGCTATGAGAATGAGGTGTTGCAGCTGGAGGAGGATGAGCGCTTCGAGGGCCGCGTGGTGTGGAATGGCAGCCGGGGCACCAAAGACCTGCAGGATCTGTCTATCTTCATCACCAATGTCACCTACAACCACTCGGGCGACTACGAGTGCCACGTCTACCGCCTGCTCTTCTTCGAAAACTACGAGCACAACACCAGCGTCGTCAAGAAGATCCACATTGAGGTAGTGGACAAAGGTGAGTCGGGTGCTGCCTGCCCCTTTACCGTCACCCACCGGAGAGCCAGATGGAGGGACAGATGGCAGGCAGTGGACAGGACAGGCTGGCTCTGTGCCTGGCCAGCCAACCGCCCACAGCAGCGGGCTGAGGGGGAGGGGAGCAGCCCCTCCTGCCCACTCCAGCTCTGGCCTCTGTTTCTCTCCAGCCCACGGAGAGGTCAAAGCATGCCTGTCCCCCACAGACGCTCCGGGTACAGAACCCAGCTCTGTCACCTGTGCTGTATGACCTCTGGCAGGTGCCTTCTGTCTCTGAGCCAAAGGGTTGTCCTGGGCTTGCCCGGGATAATAATCCGATGTGTTTCTCGGGGTGTGGTTTGAGCCATTCTTCCATCATGGGGTTCATGAGGATTGAGCAGCTGCAGGCACACGCCTGGCTTCCAGCAGAGCCTTGCAGGTGGTGGCGAGGGTGGCGGTTCTTACTGTTCGAGTAGCTCAGCCCTGCTGCCCTCTGTGGTGATGAGGCAAGAGAGCGTGCCACCTAGAGCAGAGTTCCGCACACCCCTCTGCACTCCTGCCCCGGGGGAGCCGCGCTGGCCTGCAGTCTCACTCAACACCTCTGGGGCGGGCCTAGGGGTCCTTTCTAAAGCTCTCAGGTGAGGCAGTGAAGGGCCACAGGTGCGGGGCCCACCCTCTGAGCAGCAAGGGCCTACAGCGCTTTTGAACGTCTCATCATTTTGCCTCAGCCACCCTGGACCCCTTTTCTGAGGGAGGTCCGCCCCTTCTCTGATCCATCTTCTGCTCAGCATCAATTGCAATTGTCCAGCGCCCTGTGGCCACTGGCTTAGAGTTGGGGAAACAGCCCAGGCCTTGAAGCAGCTACAAGCCGTGGCAGAAAGGTCTCTCAGGGCCACGGCACACACATCCTCATGGGCAACACGCACTGCCCATCTTTTCTGTGAGATGGGTGCCGGCCTCAGTGCCTTACACGGAGTCCCTTAGTGAATCCTCTCCCCACCCTCTGGGGTAGGGGCTCTTCCTATCCCCATTTTACGGATGAGAAAACCAAGGCTCAGGGAGGGAAGGTTATGTGGCCAAGGTCATGTGATTGGGAGCTGGACTTGAATCCAGAGGAGCTTGGGTGACTGTGTTTCTGTTCTTGGCATGATTCACTGTACTCTGTGATCAGCCAGAGCCTGTGGGTTTCTTTTTATAATTAGCATTTTTACGTTTATTGTCAAATTGGTGTAGCAGAATGCAATTCAGCAGGCATGTCTGAGCCACTCTGGTGTTTGTCACGATGCTGGGGGGTGGGGGTCACCCGCAGACATGGATGATGGAGCCCCGCCTGCGGAGTTGCTGTGACAAAGATGCCTGCGGTACTGGGACTTTACAAAACCTGTGTTATTGCTCTTGCAAATCTGCAGAGGTGAGATGGGGAGAGGGTGGGAGGCTCCAGGGCACTGTTCAGCCACCCAGGTTCTTTCCATCTTGTTGTTTGGCAGTTGGCCAGGGTGTTGTGTCCTCTGTACGCCGTGACCCAATAGAGCCTCTTTTTTTTTTTTTTTAAATTTAGATTTTTATTTTTTGAGACGGAGTTTTGCTATTATTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCCCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCAAGCCCAGCTAATTTTTGTATTTTTAGTAGATATGGAGTTTCCCCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTAATGATCCACCTGCCTTGGCCTCCCAAGGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTGAGCCTCTCTTTTTTAGGATTGCCCACTGTATGACACTACATCCCACAGCCTG 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TTCTGAGCCCAGAGAGTGGACAAAAAGTGGAGGGACCTTCAGAGAGACCCCTGAGAGGGACAAAGATAGGAGGGACTGAGACAGAGGCCCTCAGGGAGTCTGAAAGGGACCGCAGGGGAGGCGGATGGATGAGAAGTCCTGAGGATCAGGAAACAAGGACAGCACAGGGCTGCAGCAGAAGAGACACAGCGTTAGCTACAGAGTGCTGGGAGGCAGAAAGGAGGTGCCAGGTAAGAGTGTGAAGGAATTCTAAGACTGGAATTCAGTGGGCTGCAAAAGCCCTGGGGCAGGAGAGAGCTCAGGAAAGCTTTGAGTAGTGGATGGGGTTGGGGTGGGAAGAGCTCTAGAGGCGAGGAGCCTGGGGAAGAGGGGATGATGGAGGCAGGAGAGGCCGGGGAGGGGATGGCTCACACAGGGGCTTGTGGGCTGTGGAGAGGGGCTGAGTGTGGGTCAGCCCCGGTTTCAGTGCCCACCTCCCCACAATCCCCCACCCCCAGACCTTTTCTCCCAACCCATTTCTCCTGGAGCTAGCTGGTTTTACAATTTAATGGTGAAAATGACTGCCACCTTAAACTTCTAACTTAGCTGGAATTCTCATTCTACCACCTAGATGCTTGGGTTCCTCCAGCAAGGGACTTTCTGAGGAAGGGGCACTCGGGTAGCATAAAGTCTGAGTTACCGGCAACGTTGACAGTCCCACTTATGGGGCCTCCCATGTACAAGGCCCTACCTAATGTATGAAAATGGGCCCAGCCATTGCTGGAAGCAAAGGACCATTTCTTTCAACAAGAGAGAGGGAAACTGAGACTCAGGGATGAATGACTTGCTGAGGTCACGCAGTGAGTGACAGGGCTCAGCCTAGCATCCAGTCCTGTCTGCTGGTAATCATTGAGGGGGGAACAGATGGTTTGTGAGGGGTCTGGCATTGCTTAGGGCAATGGGTGCCTCTGCCTGACCTGAGCCTGCTGTCCCCACAGTGTCCTCAGCCTGCGGGGGCTGCGTGGAGGTGGACTCGGAGACCGAGGCCGTGTATGGGATGACCTTCAAAATTCTTTGCATCTCCTGCAAGCGCCGCAGCGAGACCAACGCTGAGACCTTCACCGAGTGGACCTTCCGCCAGAAGGGCACTGAGGAGTTTGTCAAGGTGTGCGGGTGCCGGGAACGGGCATGGGAGGGCAGGGGTCCACGAGTGGGAGGCGGTGGGGCTGGATCTCAGGGAGGGGGCTTATTTGTTTAATAATATGCTGTGATTGCTGACCTGGATTCAGATTCTGGCTCCACCAGTGGCCAGCTGGTGACCTTGGCCAAGTCAGTGAGCCTCTCTGAAAGTCAGTTTCCTCCTCGGTAAAGACGGGGTGGCGGTGGTCTCTAGCCCATAGGTTTGTGTGAGGACTGAATGCATTGACGCACCTGGCACACGGTTGGCATGAAATAAATGTCAGTGGACTTATTTGGCACCAGCAAACAATGTCTCTGATAGTCATTACGGAGGGAAGACAGAACTGTTTTTTTTAACCTCCTTTAAACTATGTGTGTATTTTGCATTATATATCGGTGAGGGAACCATAAAATTCTGTGACGTGCTGGAGAGTTGGGGTCTCCAGCTGCTGGAATCAGGCTGCCCTGTCTCTGCTGGAGGAGTGTGTCTGGTGGCTGGGAAAGAACGGCAGAGAATGATAGCCTAGAGGCCAGATGGGGCTTGGGAGGATGACTGAGGAACGTGTGTGTGCTCGTGTGCATCTTGGCTAGAGGCAAAAGCGGGGTCTGGTTGACTCCAGGCGTGATCCTAGCCCCCCACCCCTGTGCCCTCCCTGCCTGAGGTCAAGGTGTCTGAGCCCATCTGTGTGCCATCTGTGTTTGTGGGTGTCAGGGCAGGGGACAGAATCAGGGTCAGGTAAGGGAAGAGAGGCCCAGGCAGTGACACCTTCCCCTCCCTGGCTACCCCTAGATCCTGCGCTATGAGAATGAGGTGTTGCAGCTGGAGGAGGATGAGCGCTTCGAGGGCCGCGTGGTGTGGAATGGCAGCCGGGGCACCAAAGACCTGCAGGTTCTGTCTATCTTCATCACCAATGTCACCTACAACCACTCGGGCGACTACGAGTGCCACGTCTACCGCCTGCTCTTCTTCGAAAACTACGAGCACAACACCAGCGTCGTCAAGAAGATCCACATTGAGGTAGTGGACAAAGGTGAGTCGGGTGCTGCCTGCCCCTTTACCGTCACCCACCGGAGAGCCAGATGGAGGGACAGATGGCAGGCAGTGGACAGGACAGGCTGGCTCTGTGCCTGGCCAGCCAACCGCCCACAGCAGCGGGCTGAGGGGGAGGGGAGCAGCCCCTCCTGCCCACTCCAGCTCTGGCCTCTGTTTCTCTCCAGCCCACGGAGAGGTCAAAGCATGCCTGTCCCCCACAGACGCTCCGGGTACAGAACCCAGCTCTGTCACCTGTGCTGTATGACCTCTGGCAGGTGCCTTCTGTCTCTGAGCCAAAGGGTTGTCCTGGGCTTGCCCGGGATAATAATCCGATGTGTTTCTCGGGGTGTGGTTTGAGCCATTCTTCCATCATGGGGTTCATGAGGATTGAGCAGCTGCAGGCACACGCCTGGCTTCCAGCAGAGCCTTGCAGGTGGTGGCGAGGGTGGCGGTTCTTACTGTTCGAGTAGCTCAGCCCTGCTGCCCTCTGTGGTGATGAGGCAAGAGAGCGTGCCACCTAGAGCAGAGTTCCGCACACCCCTCTGCACTCCTGCCCCGGGGGAGCCGCGCTGGCCTGCAGTCTCACTCAACACCTCTGGGGCGGGCCTAGGGGTCCTTTCTAAAGCTCTCAGGTGAGGCAGTGAAGGGCCACAGGTGCGGGGCCCACCCTCTGAGCAGCAAGGGCCTACAGCGCTTTTGAACGTCTCATCATTTTGCCTCAGCCACCCTGGACCCCTTTTCTGAGGGAGGTCCGCCCCTTCTCTGATCCATCTTCTGCTCAGCATCAATTGCAATTGTCCAGCGCCCTGTGGCCACTGGCTTAGAGTTGGGGAAACAGCCCAGGCCTTGAAGCAGCTACAAGCCGTGGCAGAAAGGTCTCTCAGGGCCACGGCACACACATCCTCATGGGCAACACGCACTGCCCATCTTTTCTGTGAGATGGGTGCCGGCCTCAGTGCCTTACACGGAGTCCCTTAGTGAATCCTCTCCCCACCCTCTGGGGTAGGGGCTCTTCCTATCCCCATTTTACGGATGAGAAAACCAAGGCTCAGGGAGGGAAGGTTATGTGGCCAAGGTCATGTGATTGGGAGCTGGACTTGAATCCAGAGGAGCTTGGGTGACTGTGTTTCTGTTCTTGGCATGATTCACTGTACTCTGTGATCAGCCAGAGCCTGTGGGTTTCTTTTTATAATTAGCATTTTTACGTTTATTGTCAAATTGGTGTAGCAGAATGCAATTCAGCAGGCATGTCTGAGCCACTCTGGTGTTTGTCACGATGCTGGGGGGTGGGGGTCACCCGCAGACATGGATGATGGAGCCCCGCCTGCGGAGTTGCTGTGACAAAGATGCCTGCGGTACTGGGACTTTACAAAACCTGTGTTATTGCTCTTGCAAATCTGCAGAGGTGAGATGGGGAGAGGGTGGGAGGCTCCAGGGCACTGTTCAGCCACCCAGGTTCTTTCCATCTTGTTGTTTGGCAGTTGGCCAGGGTGTTGTGTCCTCTGTACGCCGTGACCCAATAGAGCCTCTTTTTTTTTTTTTTTAAATTTAGATTTTTATTTTTTGAGACGGAGTTTTGCTATTATTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCCCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCAAGCCCAGCTAATTTTTGTATTTTTAGTAGATATGGAGTTTCCCCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTAATGATCCACCTGCCTTGGCCTCCCAAGGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTGAGCCTCTCTTTTTTAGGATTGCCCACTGTATGACACTACATCCCACAGCCTG 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Task1_train_27027 | This is a variant in SCN1B (sodium voltage-gated channel beta subunit 1), located on Chromosome 19. Is this mutation a likely cause of disease or not? | Pathogenic; Developmental and epileptic encephalopathy, 52 | CCAGAGAGTGGACAAAAAGTGGAGGGACCTTCAGAGAGACCCCTGAGAGGGACAAAGATAGGAGGGACTGAGACAGAGGCCCTCAGGGAGTCTGAAAGGGACCGCAGGGGAGGCGGATGGATGAGAAGTCCTGAGGATCAGGAAACAAGGACAGCACAGGGCTGCAGCAGAAGAGACACAGCGTTAGCTACAGAGTGCTGGGAGGCAGAAAGGAGGTGCCAGGTAAGAGTGTGAAGGAATTCTAAGACTGGAATTCAGTGGGCTGCAAAAGCCCTGGGGCAGGAGAGAGCTCAGGAAAGCTTTGAGTAGTGGATGGGGTTGGGGTGGGAAGAGCTCTAGAGGCGAGGAGCCTGGGGAAGAGGGGATGATGGAGGCAGGAGAGGCCGGGGAGGGGATGGCTCACACAGGGGCTTGTGGGCTGTGGAGAGGGGCTGAGTGTGGGTCAGCCCCGGTTTCAGTGCCCACCTCCCCACAATCCCCCACCCCCAGACCTTTTCTCCCAACCCATTTCTCCTGGAGCTAGCTGGTTTTACAATTTAATGGTGAAAATGACTGCCACCTTAAACTTCTAACTTAGCTGGAATTCTCATTCTACCACCTAGATGCTTGGGTTCCTCCAGCAAGGGACTTTCTGAGGAAGGGGCACTCGGGTAGCATAAAGTCTGAGTTACCGGCAACGTTGACAGTCCCACTTATGGGGCCTCCCATGTACAAGGCCCTACCTAATGTATGAAAATGGGCCCAGCCATTGCTGGAAGCAAAGGACCATTTCTTTCAACAAGAGAGAGGGAAACTGAGACTCAGGGATGAATGACTTGCTGAGGTCACGCAGTGAGTGACAGGGCTCAGCCTAGCATCCAGTCCTGTCTGCTGGTAATCATTGAGGGGGGAACAGATGGTTTGTGAGGGGTCTGGCATTGCTTAGGGCAATGGGTGCCTCTGCCTGACCTGAGCCTGCTGTCCCCACAGTGTCCTCAGCCTGCGGGGGCTGCGTGGAGGTGGACTCGGAGACCGAGGCCGTGTATGGGATGACCTTCAAAATTCTTTGCATCTCCTGCAAGCGCCGCAGCGAGACCAACGCTGAGACCTTCACCGAGTGGACCTTCCGCCAGAAGGGCACTGAGGAGTTTGTCAAGGTGTGCGGGTGCCGGGAACGGGCATGGGAGGGCAGGGGTCCACGAGTGGGAGGCGGTGGGGCTGGATCTCAGGGAGGGGGCTTATTTGTTTAATAATATGCTGTGATTGCTGACCTGGATTCAGATTCTGGCTCCACCAGTGGCCAGCTGGTGACCTTGGCCAAGTCAGTGAGCCTCTCTGAAAGTCAGTTTCCTCCTCGGTAAAGACGGGGTGGCGGTGGTCTCTAGCCCATAGGTTTGTGTGAGGACTGAATGCATTGACGCACCTGGCACACGGTTGGCATGAAATAAATGTCAGTGGACTTATTTGGCACCAGCAAACAATGTCTCTGATAGTCATTACGGAGGGAAGACAGAACTGTTTTTTTTAACCTCCTTTAAACTATGTGTGTATTTTGCATTATATATCGGTGAGGGAACCATAAAATTCTGTGACGTGCTGGAGAGTTGGGGTCTCCAGCTGCTGGAATCAGGCTGCCCTGTCTCTGCTGGAGGAGTGTGTCTGGTGGCTGGGAAAGAACGGCAGAGAATGATAGCCTAGAGGCCAGATGGGGCTTGGGAGGATGACTGAGGAACGTGTGTGTGCTCGTGTGCATCTTGGCTAGAGGCAAAAGCGGGGTCTGGTTGACTCCAGGCGTGATCCTAGCCCCCCACCCCTGTGCCCTCCCTGCCTGAGGTCAAGGTGTCTGAGCCCATCTGTGTGCCATCTGTGTTTGTGGGTGTCAGGGCAGGGGACAGAATCAGGGTCAGGTAAGGGAAGAGAGGCCCAGGCAGTGACACCTTCCCCTCCCTGGCTACCCCTAGATCCTGCGCTATGAGAATGAGGTGTTGCAGCTGGAGGAGGATGAGCGCTTCGAGGGCCGCGTGGTGTGGAATGGCAGCCGGGGCACCAAAGACCTGCAGGATCTGTCTATCTTCATCACCAATGTCACCTACAACCACTCGGGCGACTACGAGTGCCACGTCTACCGCCTGCTCTTCTTCGAAAACTACGAGCACAACACCAGCGTCGTCAAGAAGATCCACATTGAGGTAGTGGACAAAGGTGAGTCGGGTGCTGCCTGCCCCTTTACCGTCACCCACCGGAGAGCCAGATGGAGGGACAGATGGCAGGCAGTGGACAGGACAGGCTGGCTCTGTGCCTGGCCAGCCAACCGCCCACAGCAGCGGGCTGAGGGGGAGGGGAGCAGCCCCTCCTGCCCACTCCAGCTCTGGCCTCTGTTTCTCTCCAGCCCACGGAGAGGTCAAAGCATGCCTGTCCCCCACAGACGCTCCGGGTACAGAACCCAGCTCTGTCACCTGTGCTGTATGACCTCTGGCAGGTGCCTTCTGTCTCTGAGCCAAAGGGTTGTCCTGGGCTTGCCCGGGATAATAATCCGATGTGTTTCTCGGGGTGTGGTTTGAGCCATTCTTCCATCATGGGGTTCATGAGGATTGAGCAGCTGCAGGCACACGCCTGGCTTCCAGCAGAGCCTTGCAGGTGGTGGCGAGGGTGGCGGTTCTTACTGTTCGAGTAGCTCAGCCCTGCTGCCCTCTGTGGTGATGAGGCAAGAGAGCGTGCCACCTAGAGCAGAGTTCCGCACACCCCTCTGCACTCCTGCCCCGGGGGAGCCGCGCTGGCCTGCAGTCTCACTCAACACCTCTGGGGCGGGCCTAGGGGTCCTTTCTAAAGCTCTCAGGTGAGGCAGTGAAGGGCCACAGGTGCGGGGCCCACCCTCTGAGCAGCAAGGGCCTACAGCGCTTTTGAACGTCTCATCATTTTGCCTCAGCCACCCTGGACCCCTTTTCTGAGGGAGGTCCGCCCCTTCTCTGATCCATCTTCTGCTCAGCATCAATTGCAATTGTCCAGCGCCCTGTGGCCACTGGCTTAGAGTTGGGGAAACAGCCCAGGCCTTGAAGCAGCTACAAGCCGTGGCAGAAAGGTCTCTCAGGGCCACGGCACACACATCCTCATGGGCAACACGCACTGCCCATCTTTTCTGTGAGATGGGTGCCGGCCTCAGTGCCTTACACGGAGTCCCTTAGTGAATCCTCTCCCCACCCTCTGGGGTAGGGGCTCTTCCTATCCCCATTTTACGGATGAGAAAACCAAGGCTCAGGGAGGGAAGGTTATGTGGCCAAGGTCATGTGATTGGGAGCTGGACTTGAATCCAGAGGAGCTTGGGTGACTGTGTTTCTGTTCTTGGCATGATTCACTGTACTCTGTGATCAGCCAGAGCCTGTGGGTTTCTTTTTATAATTAGCATTTTTACGTTTATTGTCAAATTGGTGTAGCAGAATGCAATTCAGCAGGCATGTCTGAGCCACTCTGGTGTTTGTCACGATGCTGGGGGGTGGGGGTCACCCGCAGACATGGATGATGGAGCCCCGCCTGCGGAGTTGCTGTGACAAAGATGCCTGCGGTACTGGGACTTTACAAAACCTGTGTTATTGCTCTTGCAAATCTGCAGAGGTGAGATGGGGAGAGGGTGGGAGGCTCCAGGGCACTGTTCAGCCACCCAGGTTCTTTCCATCTTGTTGTTTGGCAGTTGGCCAGGGTGTTGTGTCCTCTGTACGCCGTGACCCAATAGAGCCTCTTTTTTTTTTTTTTTAAATTTAGATTTTTATTTTTTGAGACGGAGTTTTGCTATTATTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCCCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCAAGCCCAGCTAATTTTTGTATTTTTAGTAGATATGGAGTTTCCCCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTAATGATCCACCTGCCTTGGCCTCCCAAGGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTGAGCCTCTCTTTTTTAGGATTGCCCACTGTATGACACTACATCCCACAGCCTGTGCTATTA 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CCAGAGAGTGGACAAAAAGTGGAGGGACCTTCAGAGAGACCCCTGAGAGGGACAAAGATAGGAGGGACTGAGACAGAGGCCCTCAGGGAGTCTGAAAGGGACCGCAGGGGAGGCGGATGGATGAGAAGTCCTGAGGATCAGGAAACAAGGACAGCACAGGGCTGCAGCAGAAGAGACACAGCGTTAGCTACAGAGTGCTGGGAGGCAGAAAGGAGGTGCCAGGTAAGAGTGTGAAGGAATTCTAAGACTGGAATTCAGTGGGCTGCAAAAGCCCTGGGGCAGGAGAGAGCTCAGGAAAGCTTTGAGTAGTGGATGGGGTTGGGGTGGGAAGAGCTCTAGAGGCGAGGAGCCTGGGGAAGAGGGGATGATGGAGGCAGGAGAGGCCGGGGAGGGGATGGCTCACACAGGGGCTTGTGGGCTGTGGAGAGGGGCTGAGTGTGGGTCAGCCCCGGTTTCAGTGCCCACCTCCCCACAATCCCCCACCCCCAGACCTTTTCTCCCAACCCATTTCTCCTGGAGCTAGCTGGTTTTACAATTTAATGGTGAAAATGACTGCCACCTTAAACTTCTAACTTAGCTGGAATTCTCATTCTACCACCTAGATGCTTGGGTTCCTCCAGCAAGGGACTTTCTGAGGAAGGGGCACTCGGGTAGCATAAAGTCTGAGTTACCGGCAACGTTGACAGTCCCACTTATGGGGCCTCCCATGTACAAGGCCCTACCTAATGTATGAAAATGGGCCCAGCCATTGCTGGAAGCAAAGGACCATTTCTTTCAACAAGAGAGAGGGAAACTGAGACTCAGGGATGAATGACTTGCTGAGGTCACGCAGTGAGTGACAGGGCTCAGCCTAGCATCCAGTCCTGTCTGCTGGTAATCATTGAGGGGGGAACAGATGGTTTGTGAGGGGTCTGGCATTGCTTAGGGCAATGGGTGCCTCTGCCTGACCTGAGCCTGCTGTCCCCACAGTGTCCTCAGCCTGCGGGGGCTGCGTGGAGGTGGACTCGGAGACCGAGGCCGTGTATGGGATGACCTTCAAAATTCTTTGCATCTCCTGCAAGCGCCGCAGCGAGACCAACGCTGAGACCTTCACCGAGTGGACCTTCCGCCAGAAGGGCACTGAGGAGTTTGTCAAGGTGTGCGGGTGCCGGGAACGGGCATGGGAGGGCAGGGGTCCACGAGTGGGAGGCGGTGGGGCTGGATCTCAGGGAGGGGGCTTATTTGTTTAATAATATGCTGTGATTGCTGACCTGGATTCAGATTCTGGCTCCACCAGTGGCCAGCTGGTGACCTTGGCCAAGTCAGTGAGCCTCTCTGAAAGTCAGTTTCCTCCTCGGTAAAGACGGGGTGGCGGTGGTCTCTAGCCCATAGGTTTGTGTGAGGACTGAATGCATTGACGCACCTGGCACACGGTTGGCATGAAATAAATGTCAGTGGACTTATTTGGCACCAGCAAACAATGTCTCTGATAGTCATTACGGAGGGAAGACAGAACTGTTTTTTTTAACCTCCTTTAAACTATGTGTGTATTTTGCATTATATATCGGTGAGGGAACCATAAAATTCTGTGACGTGCTGGAGAGTTGGGGTCTCCAGCTGCTGGAATCAGGCTGCCCTGTCTCTGCTGGAGGAGTGTGTCTGGTGGCTGGGAAAGAACGGCAGAGAATGATAGCCTAGAGGCCAGATGGGGCTTGGGAGGATGACTGAGGAACGTGTGTGTGCTCGTGTGCATCTTGGCTAGAGGCAAAAGCGGGGTCTGGTTGACTCCAGGCGTGATCCTAGCCCCCCACCCCTGTGCCCTCCCTGCCTGAGGTCAAGGTGTCTGAGCCCATCTGTGTGCCATCTGTGTTTGTGGGTGTCAGGGCAGGGGACAGAATCAGGGTCAGGTAAGGGAAGAGAGGCCCAGGCAGTGACACCTTCCCCTCCCTGGCTACCCCTAGATCCTGCGCTATGAGAATGAGGTGTTGCAGCTGGAGGAGGATGAGCGCTTCGAGGGCCGCGTGGTGTGGAATGGCAGCCGGGGCACCAAAGACCTGCAGGATCTGTCTTTCTTCATCACCAATGTCACCTACAACCACTCGGGCGACTACGAGTGCCACGTCTACCGCCTGCTCTTCTTCGAAAACTACGAGCACAACACCAGCGTCGTCAAGAAGATCCACATTGAGGTAGTGGACAAAGGTGAGTCGGGTGCTGCCTGCCCCTTTACCGTCACCCACCGGAGAGCCAGATGGAGGGACAGATGGCAGGCAGTGGACAGGACAGGCTGGCTCTGTGCCTGGCCAGCCAACCGCCCACAGCAGCGGGCTGAGGGGGAGGGGAGCAGCCCCTCCTGCCCACTCCAGCTCTGGCCTCTGTTTCTCTCCAGCCCACGGAGAGGTCAAAGCATGCCTGTCCCCCACAGACGCTCCGGGTACAGAACCCAGCTCTGTCACCTGTGCTGTATGACCTCTGGCAGGTGCCTTCTGTCTCTGAGCCAAAGGGTTGTCCTGGGCTTGCCCGGGATAATAATCCGATGTGTTTCTCGGGGTGTGGTTTGAGCCATTCTTCCATCATGGGGTTCATGAGGATTGAGCAGCTGCAGGCACACGCCTGGCTTCCAGCAGAGCCTTGCAGGTGGTGGCGAGGGTGGCGGTTCTTACTGTTCGAGTAGCTCAGCCCTGCTGCCCTCTGTGGTGATGAGGCAAGAGAGCGTGCCACCTAGAGCAGAGTTCCGCACACCCCTCTGCACTCCTGCCCCGGGGGAGCCGCGCTGGCCTGCAGTCTCACTCAACACCTCTGGGGCGGGCCTAGGGGTCCTTTCTAAAGCTCTCAGGTGAGGCAGTGAAGGGCCACAGGTGCGGGGCCCACCCTCTGAGCAGCAAGGGCCTACAGCGCTTTTGAACGTCTCATCATTTTGCCTCAGCCACCCTGGACCCCTTTTCTGAGGGAGGTCCGCCCCTTCTCTGATCCATCTTCTGCTCAGCATCAATTGCAATTGTCCAGCGCCCTGTGGCCACTGGCTTAGAGTTGGGGAAACAGCCCAGGCCTTGAAGCAGCTACAAGCCGTGGCAGAAAGGTCTCTCAGGGCCACGGCACACACATCCTCATGGGCAACACGCACTGCCCATCTTTTCTGTGAGATGGGTGCCGGCCTCAGTGCCTTACACGGAGTCCCTTAGTGAATCCTCTCCCCACCCTCTGGGGTAGGGGCTCTTCCTATCCCCATTTTACGGATGAGAAAACCAAGGCTCAGGGAGGGAAGGTTATGTGGCCAAGGTCATGTGATTGGGAGCTGGACTTGAATCCAGAGGAGCTTGGGTGACTGTGTTTCTGTTCTTGGCATGATTCACTGTACTCTGTGATCAGCCAGAGCCTGTGGGTTTCTTTTTATAATTAGCATTTTTACGTTTATTGTCAAATTGGTGTAGCAGAATGCAATTCAGCAGGCATGTCTGAGCCACTCTGGTGTTTGTCACGATGCTGGGGGGTGGGGGTCACCCGCAGACATGGATGATGGAGCCCCGCCTGCGGAGTTGCTGTGACAAAGATGCCTGCGGTACTGGGACTTTACAAAACCTGTGTTATTGCTCTTGCAAATCTGCAGAGGTGAGATGGGGAGAGGGTGGGAGGCTCCAGGGCACTGTTCAGCCACCCAGGTTCTTTCCATCTTGTTGTTTGGCAGTTGGCCAGGGTGTTGTGTCCTCTGTACGCCGTGACCCAATAGAGCCTCTTTTTTTTTTTTTTTAAATTTAGATTTTTATTTTTTGAGACGGAGTTTTGCTATTATTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCCCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCAAGCCCAGCTAATTTTTGTATTTTTAGTAGATATGGAGTTTCCCCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTAATGATCCACCTGCCTTGGCCTCCCAAGGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTGAGCCTCTCTTTTTTAGGATTGCCCACTGTATGACACTACATCCCACAGCCTGTGCTATTA 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Task1_train_27028 | A variant has been detected on Chromosome 19 in SCN1B (sodium voltage-gated channel beta subunit 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Developmental and epileptic encephalopathy, 52 | CCCCTGAGAGGGACAAAGATAGGAGGGACTGAGACAGAGGCCCTCAGGGAGTCTGAAAGGGACCGCAGGGGAGGCGGATGGATGAGAAGTCCTGAGGATCAGGAAACAAGGACAGCACAGGGCTGCAGCAGAAGAGACACAGCGTTAGCTACAGAGTGCTGGGAGGCAGAAAGGAGGTGCCAGGTAAGAGTGTGAAGGAATTCTAAGACTGGAATTCAGTGGGCTGCAAAAGCCCTGGGGCAGGAGAGAGCTCAGGAAAGCTTTGAGTAGTGGATGGGGTTGGGGTGGGAAGAGCTCTAGAGGCGAGGAGCCTGGGGAAGAGGGGATGATGGAGGCAGGAGAGGCCGGGGAGGGGATGGCTCACACAGGGGCTTGTGGGCTGTGGAGAGGGGCTGAGTGTGGGTCAGCCCCGGTTTCAGTGCCCACCTCCCCACAATCCCCCACCCCCAGACCTTTTCTCCCAACCCATTTCTCCTGGAGCTAGCTGGTTTTACAATTTAATGGTGAAAATGACTGCCACCTTAAACTTCTAACTTAGCTGGAATTCTCATTCTACCACCTAGATGCTTGGGTTCCTCCAGCAAGGGACTTTCTGAGGAAGGGGCACTCGGGTAGCATAAAGTCTGAGTTACCGGCAACGTTGACAGTCCCACTTATGGGGCCTCCCATGTACAAGGCCCTACCTAATGTATGAAAATGGGCCCAGCCATTGCTGGAAGCAAAGGACCATTTCTTTCAACAAGAGAGAGGGAAACTGAGACTCAGGGATGAATGACTTGCTGAGGTCACGCAGTGAGTGACAGGGCTCAGCCTAGCATCCAGTCCTGTCTGCTGGTAATCATTGAGGGGGGAACAGATGGTTTGTGAGGGGTCTGGCATTGCTTAGGGCAATGGGTGCCTCTGCCTGACCTGAGCCTGCTGTCCCCACAGTGTCCTCAGCCTGCGGGGGCTGCGTGGAGGTGGACTCGGAGACCGAGGCCGTGTATGGGATGACCTTCAAAATTCTTTGCATCTCCTGCAAGCGCCGCAGCGAGACCAACGCTGAGACCTTCACCGAGTGGACCTTCCGCCAGAAGGGCACTGAGGAGTTTGTCAAGGTGTGCGGGTGCCGGGAACGGGCATGGGAGGGCAGGGGTCCACGAGTGGGAGGCGGTGGGGCTGGATCTCAGGGAGGGGGCTTATTTGTTTAATAATATGCTGTGATTGCTGACCTGGATTCAGATTCTGGCTCCACCAGTGGCCAGCTGGTGACCTTGGCCAAGTCAGTGAGCCTCTCTGAAAGTCAGTTTCCTCCTCGGTAAAGACGGGGTGGCGGTGGTCTCTAGCCCATAGGTTTGTGTGAGGACTGAATGCATTGACGCACCTGGCACACGGTTGGCATGAAATAAATGTCAGTGGACTTATTTGGCACCAGCAAACAATGTCTCTGATAGTCATTACGGAGGGAAGACAGAACTGTTTTTTTTAACCTCCTTTAAACTATGTGTGTATTTTGCATTATATATCGGTGAGGGAACCATAAAATTCTGTGACGTGCTGGAGAGTTGGGGTCTCCAGCTGCTGGAATCAGGCTGCCCTGTCTCTGCTGGAGGAGTGTGTCTGGTGGCTGGGAAAGAACGGCAGAGAATGATAGCCTAGAGGCCAGATGGGGCTTGGGAGGATGACTGAGGAACGTGTGTGTGCTCGTGTGCATCTTGGCTAGAGGCAAAAGCGGGGTCTGGTTGACTCCAGGCGTGATCCTAGCCCCCCACCCCTGTGCCCTCCCTGCCTGAGGTCAAGGTGTCTGAGCCCATCTGTGTGCCATCTGTGTTTGTGGGTGTCAGGGCAGGGGACAGAATCAGGGTCAGGTAAGGGAAGAGAGGCCCAGGCAGTGACACCTTCCCCTCCCTGGCTACCCCTAGATCCTGCGCTATGAGAATGAGGTGTTGCAGCTGGAGGAGGATGAGCGCTTCGAGGGCCGCGTGGTGTGGAATGGCAGCCGGGGCACCAAAGACCTGCAGGATCTGTCTATCTTCATCACCAATGTCACCTACAACCACTCGGGCGACTACGAGTGCCACGTCTACCGCCTGCTCTTCTTCGAAAACTACGAGCACAACACCAGCGTCGTCAAGAAGATCCACATTGAGGTAGTGGACAAAGGTGAGTCGGGTGCTGCCTGCCCCTTTACCGTCACCCACCGGAGAGCCAGATGGAGGGACAGATGGCAGGCAGTGGACAGGACAGGCTGGCTCTGTGCCTGGCCAGCCAACCGCCCACAGCAGCGGGCTGAGGGGGAGGGGAGCAGCCCCTCCTGCCCACTCCAGCTCTGGCCTCTGTTTCTCTCCAGCCCACGGAGAGGTCAAAGCATGCCTGTCCCCCACAGACGCTCCGGGTACAGAACCCAGCTCTGTCACCTGTGCTGTATGACCTCTGGCAGGTGCCTTCTGTCTCTGAGCCAAAGGGTTGTCCTGGGCTTGCCCGGGATAATAATCCGATGTGTTTCTCGGGGTGTGGTTTGAGCCATTCTTCCATCATGGGGTTCATGAGGATTGAGCAGCTGCAGGCACACGCCTGGCTTCCAGCAGAGCCTTGCAGGTGGTGGCGAGGGTGGCGGTTCTTACTGTTCGAGTAGCTCAGCCCTGCTGCCCTCTGTGGTGATGAGGCAAGAGAGCGTGCCACCTAGAGCAGAGTTCCGCACACCCCTCTGCACTCCTGCCCCGGGGGAGCCGCGCTGGCCTGCAGTCTCACTCAACACCTCTGGGGCGGGCCTAGGGGTCCTTTCTAAAGCTCTCAGGTGAGGCAGTGAAGGGCCACAGGTGCGGGGCCCACCCTCTGAGCAGCAAGGGCCTACAGCGCTTTTGAACGTCTCATCATTTTGCCTCAGCCACCCTGGACCCCTTTTCTGAGGGAGGTCCGCCCCTTCTCTGATCCATCTTCTGCTCAGCATCAATTGCAATTGTCCAGCGCCCTGTGGCCACTGGCTTAGAGTTGGGGAAACAGCCCAGGCCTTGAAGCAGCTACAAGCCGTGGCAGAAAGGTCTCTCAGGGCCACGGCACACACATCCTCATGGGCAACACGCACTGCCCATCTTTTCTGTGAGATGGGTGCCGGCCTCAGTGCCTTACACGGAGTCCCTTAGTGAATCCTCTCCCCACCCTCTGGGGTAGGGGCTCTTCCTATCCCCATTTTACGGATGAGAAAACCAAGGCTCAGGGAGGGAAGGTTATGTGGCCAAGGTCATGTGATTGGGAGCTGGACTTGAATCCAGAGGAGCTTGGGTGACTGTGTTTCTGTTCTTGGCATGATTCACTGTACTCTGTGATCAGCCAGAGCCTGTGGGTTTCTTTTTATAATTAGCATTTTTACGTTTATTGTCAAATTGGTGTAGCAGAATGCAATTCAGCAGGCATGTCTGAGCCACTCTGGTGTTTGTCACGATGCTGGGGGGTGGGGGTCACCCGCAGACATGGATGATGGAGCCCCGCCTGCGGAGTTGCTGTGACAAAGATGCCTGCGGTACTGGGACTTTACAAAACCTGTGTTATTGCTCTTGCAAATCTGCAGAGGTGAGATGGGGAGAGGGTGGGAGGCTCCAGGGCACTGTTCAGCCACCCAGGTTCTTTCCATCTTGTTGTTTGGCAGTTGGCCAGGGTGTTGTGTCCTCTGTACGCCGTGACCCAATAGAGCCTCTTTTTTTTTTTTTTTAAATTTAGATTTTTATTTTTTGAGACGGAGTTTTGCTATTATTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCCCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCAAGCCCAGCTAATTTTTGTATTTTTAGTAGATATGGAGTTTCCCCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTAATGATCCACCTGCCTTGGCCTCCCAAGGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTGAGCCTCTCTTTTTTAGGATTGCCCACTGTATGACACTACATCCCACAGCCTGTGCTATTACCAGCATTTACCATCATATGCAGTTCCTTATGTTGGCCC 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CCCCTGAGAGGGACAAAGATAGGAGGGACTGAGACAGAGGCCCTCAGGGAGTCTGAAAGGGACCGCAGGGGAGGCGGATGGATGAGAAGTCCTGAGGATCAGGAAACAAGGACAGCACAGGGCTGCAGCAGAAGAGACACAGCGTTAGCTACAGAGTGCTGGGAGGCAGAAAGGAGGTGCCAGGTAAGAGTGTGAAGGAATTCTAAGACTGGAATTCAGTGGGCTGCAAAAGCCCTGGGGCAGGAGAGAGCTCAGGAAAGCTTTGAGTAGTGGATGGGGTTGGGGTGGGAAGAGCTCTAGAGGCGAGGAGCCTGGGGAAGAGGGGATGATGGAGGCAGGAGAGGCCGGGGAGGGGATGGCTCACACAGGGGCTTGTGGGCTGTGGAGAGGGGCTGAGTGTGGGTCAGCCCCGGTTTCAGTGCCCACCTCCCCACAATCCCCCACCCCCAGACCTTTTCTCCCAACCCATTTCTCCTGGAGCTAGCTGGTTTTACAATTTAATGGTGAAAATGACTGCCACCTTAAACTTCTAACTTAGCTGGAATTCTCATTCTACCACCTAGATGCTTGGGTTCCTCCAGCAAGGGACTTTCTGAGGAAGGGGCACTCGGGTAGCATAAAGTCTGAGTTACCGGCAACGTTGACAGTCCCACTTATGGGGCCTCCCATGTACAAGGCCCTACCTAATGTATGAAAATGGGCCCAGCCATTGCTGGAAGCAAAGGACCATTTCTTTCAACAAGAGAGAGGGAAACTGAGACTCAGGGATGAATGACTTGCTGAGGTCACGCAGTGAGTGACAGGGCTCAGCCTAGCATCCAGTCCTGTCTGCTGGTAATCATTGAGGGGGGAACAGATGGTTTGTGAGGGGTCTGGCATTGCTTAGGGCAATGGGTGCCTCTGCCTGACCTGAGCCTGCTGTCCCCACAGTGTCCTCAGCCTGCGGGGGCTGCGTGGAGGTGGACTCGGAGACCGAGGCCGTGTATGGGATGACCTTCAAAATTCTTTGCATCTCCTGCAAGCGCCGCAGCGAGACCAACGCTGAGACCTTCACCGAGTGGACCTTCCGCCAGAAGGGCACTGAGGAGTTTGTCAAGGTGTGCGGGTGCCGGGAACGGGCATGGGAGGGCAGGGGTCCACGAGTGGGAGGCGGTGGGGCTGGATCTCAGGGAGGGGGCTTATTTGTTTAATAATATGCTGTGATTGCTGACCTGGATTCAGATTCTGGCTCCACCAGTGGCCAGCTGGTGACCTTGGCCAAGTCAGTGAGCCTCTCTGAAAGTCAGTTTCCTCCTCGGTAAAGACGGGGTGGCGGTGGTCTCTAGCCCATAGGTTTGTGTGAGGACTGAATGCATTGACGCACCTGGCACACGGTTGGCATGAAATAAATGTCAGTGGACTTATTTGGCACCAGCAAACAATGTCTCTGATAGTCATTACGGAGGGAAGACAGAACTGTTTTTTTTAACCTCCTTTAAACTATGTGTGTATTTTGCATTATATATCGGTGAGGGAACCATAAAATTCTGTGACGTGCTGGAGAGTTGGGGTCTCCAGCTGCTGGAATCAGGCTGCCCTGTCTCTGCTGGAGGAGTGTGTCTGGTGGCTGGGAAAGAACGGCAGAGAATGATAGCCTAGAGGCCAGATGGGGCTTGGGAGGATGACTGAGGAACGTGTGTGTGCTCGTGTGCATCTTGGCTAGAGGCAAAAGCGGGGTCTGGTTGACTCCAGGCGTGATCCTAGCCCCCCACCCCTGTGCCCTCCCTGCCTGAGGTCAAGGTGTCTGAGCCCATCTGTGTGCCATCTGTGTTTGTGGGTGTCAGGGCAGGGGACAGAATCAGGGTCAGGTAAGGGAAGAGAGGCCCAGGCAGTGACACCTTCCCCTCCCTGGCTACCCCTAGATCCTGCGCTATGAGAATGAGGTGTTGCAGCTGGAGGAGGATGAGCGCTTCGAGGGCCGCGTGGTGTGGAATGGCAGCCGGGGCACCAAAGACCTGCAGGATCTGTCTATCTTCATCACCAATGTCACCTACAACCACTCGGGCGACGACGAGTGCCACGTCTACCGCCTGCTCTTCTTCGAAAACTACGAGCACAACACCAGCGTCGTCAAGAAGATCCACATTGAGGTAGTGGACAAAGGTGAGTCGGGTGCTGCCTGCCCCTTTACCGTCACCCACCGGAGAGCCAGATGGAGGGACAGATGGCAGGCAGTGGACAGGACAGGCTGGCTCTGTGCCTGGCCAGCCAACCGCCCACAGCAGCGGGCTGAGGGGGAGGGGAGCAGCCCCTCCTGCCCACTCCAGCTCTGGCCTCTGTTTCTCTCCAGCCCACGGAGAGGTCAAAGCATGCCTGTCCCCCACAGACGCTCCGGGTACAGAACCCAGCTCTGTCACCTGTGCTGTATGACCTCTGGCAGGTGCCTTCTGTCTCTGAGCCAAAGGGTTGTCCTGGGCTTGCCCGGGATAATAATCCGATGTGTTTCTCGGGGTGTGGTTTGAGCCATTCTTCCATCATGGGGTTCATGAGGATTGAGCAGCTGCAGGCACACGCCTGGCTTCCAGCAGAGCCTTGCAGGTGGTGGCGAGGGTGGCGGTTCTTACTGTTCGAGTAGCTCAGCCCTGCTGCCCTCTGTGGTGATGAGGCAAGAGAGCGTGCCACCTAGAGCAGAGTTCCGCACACCCCTCTGCACTCCTGCCCCGGGGGAGCCGCGCTGGCCTGCAGTCTCACTCAACACCTCTGGGGCGGGCCTAGGGGTCCTTTCTAAAGCTCTCAGGTGAGGCAGTGAAGGGCCACAGGTGCGGGGCCCACCCTCTGAGCAGCAAGGGCCTACAGCGCTTTTGAACGTCTCATCATTTTGCCTCAGCCACCCTGGACCCCTTTTCTGAGGGAGGTCCGCCCCTTCTCTGATCCATCTTCTGCTCAGCATCAATTGCAATTGTCCAGCGCCCTGTGGCCACTGGCTTAGAGTTGGGGAAACAGCCCAGGCCTTGAAGCAGCTACAAGCCGTGGCAGAAAGGTCTCTCAGGGCCACGGCACACACATCCTCATGGGCAACACGCACTGCCCATCTTTTCTGTGAGATGGGTGCCGGCCTCAGTGCCTTACACGGAGTCCCTTAGTGAATCCTCTCCCCACCCTCTGGGGTAGGGGCTCTTCCTATCCCCATTTTACGGATGAGAAAACCAAGGCTCAGGGAGGGAAGGTTATGTGGCCAAGGTCATGTGATTGGGAGCTGGACTTGAATCCAGAGGAGCTTGGGTGACTGTGTTTCTGTTCTTGGCATGATTCACTGTACTCTGTGATCAGCCAGAGCCTGTGGGTTTCTTTTTATAATTAGCATTTTTACGTTTATTGTCAAATTGGTGTAGCAGAATGCAATTCAGCAGGCATGTCTGAGCCACTCTGGTGTTTGTCACGATGCTGGGGGGTGGGGGTCACCCGCAGACATGGATGATGGAGCCCCGCCTGCGGAGTTGCTGTGACAAAGATGCCTGCGGTACTGGGACTTTACAAAACCTGTGTTATTGCTCTTGCAAATCTGCAGAGGTGAGATGGGGAGAGGGTGGGAGGCTCCAGGGCACTGTTCAGCCACCCAGGTTCTTTCCATCTTGTTGTTTGGCAGTTGGCCAGGGTGTTGTGTCCTCTGTACGCCGTGACCCAATAGAGCCTCTTTTTTTTTTTTTTTAAATTTAGATTTTTATTTTTTGAGACGGAGTTTTGCTATTATTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCCCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCAAGCCCAGCTAATTTTTGTATTTTTAGTAGATATGGAGTTTCCCCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTAATGATCCACCTGCCTTGGCCTCCCAAGGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTGAGCCTCTCTTTTTTAGGATTGCCCACTGTATGACACTACATCCCACAGCCTGTGCTATTACCAGCATTTACCATCATATGCAGTTCCTTATGTTGGCCC 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Task1_train_27029 | Given this context: Chromosome 19, gene LGI4 (leucine rich repeat LGI family member 4) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect | TGAGGACAGACCAGCTGAAATTGGGTGGAGGACCGTTCTCTGTCCCCAGGTCCTGTCTCTGCACAGAAACTTGAACTCCAGGATGGAATTCTTCCTCCTCTGCTGGGACTCCTTTGCATGGCAGGGCCTCATCTCACCTCTCGCAAGAGGGTCTCTTTGTTCAATTTTTTTTAATCTAAAATGATTGTGCCTCTGCCCAAGCAGCCTGGAGACTTCCTATGTGTGCATTGGGGTGGGGCTTGGGGCACCATGAGAAGGTTGGCGTGCCCTGGAGGCTGACACAGAGGCTGGCACTGAGCCTGCTTGTTGGGAAAAGCCCACAGGCCTGTTCCCTTGTGGCTTGGGACATGGCACAGGCCCGCCCTCTGCCTCCTCAGCCATGGGAACCTCATATGCAATTTGGGATTTACTAGTAGCCAAAAGGAATGAAAGAGAGCTCTAACCAGATGGAACACTGGAACATTCCAGTGGACCCTGGACCATTCCAGGAAAACTGGGACATAGGATCGTCCCGCTATGATGGAAGTGTTCAGACAGTTTATAATAGTAAGCCCCTGTGACCCTCTCACTTACCCCGAGACCTCACTTTATTACAAGATCTTTCCAAATACCCAAATGTCCCTGCAAGCCCGTTAAATAATTCCCTATGCTACCCTTAATAACATACAATGACCACATAGTGTGAGAACTTCCAACAAGCCTCAAAGTCCCTTGAGACTCCCCAATACCTAATAAGGCATGCGAAATGTTCTCATGAACTACCCCACAACACGCCTAAAACTCAAAACACCCAAAAATATCTCCTCCAATGTCCTGAAACATGAACCCAAAAAGAGACCCACAATAAACTCGTGACTTGTCCCCTCATCATGCCGTTTTATCCCTCAAACATCCCCTGAGTCCCTCCATAACCACGAACCCACACTCAGAGACCATGAACTGCGGAAACGCCTCCCTGGGACCTGGGCCGCTCCGAGCACTGCTCCAGGGACACCATCCCCGCCCTGTGCCGTTCACAGGACATCCTCTCCCAAGGATCCACAACACTGGGCGGGGAGGGTGCACAGCGCATTTATTGAGCTCGGACTCGTCTTGTCCTTGCCTCCGTCGCCCATCTAGAAGGGCACCAGGCTCCCCGCGACACCTCCCGCTGTCCCTCCCTGTGCCCCGGCGCACGCGCAAGAGGCGCAAAAGGCACAGCTTGCTGGGCGGCCGCACGCATGCGCACAAGCAGCAGAGGGGAACCCGCCCAGTGCTGAGTTGTCTTCGAGGTTGGCGCTCCTCCAGGAAAGCGATTGGCTGCGTGGAGTTTAGAATGGGAAAGGAATGCCATCAACCCCTCGGTGCTTTCAGAGGGACCAGCGGGGTAGGAGCGGGTTGAGAGGGGGGCTCCGGGACCTCATGGAGCTCTGCACGTGACCTCCACCTCGACTCCATGCAGTGCACCAGCCTGCACCCCCCAGGTTGCCTTTGATGGGGAATCTGCCCCAGCCGAGATGTCCAGATGTTGCTTTAGACCTGAAGGGCAGCTCGGGAGGTCCAGTAGGCTGGGACCCTCTATGTCCCCCCATGGGTGCAGATCCTTTAAGAAGTGGGCTTAAGGCCTAGACGTGTGGCTGATGAACGTGGCCCACGGTCAGCAGCTCACAGGCGGGCCATCACCCCAAGTAGGGCCAGGAGCCAGCCAAGGGGCCGTCCAGGGGCCCCAGCCATGCCCAGAGTCCCGTTGGTGGTCTCAGGCACTGAGGTCGATCTCGTGATGCTGGTAGATCTGTGTGGGGCCCTTAAAGCAAGCAGCAAAGAGGAAGCGTCTGCCGGCCATAGTGATGTGGGCAAAGGCACGGGGGGCCACCAGGGCCGGAGGCCCCAGCTCCTGCAGTGGCTCCAGGAGCCCCTTGTCAGGCTCAAGGCGGAGGACCTGGCTGAAGGCGAAGTCGCTGCCTAGGATGGCCAGCTGGTCCCTGGCGATGAGCAGTGGCTGGAAGACGTGGGCACCGCGCGAGGGAAGTTGCTGCAGCAGACGAAACATGGAGCCGTCCCAGCGCATGACCTGTGGGGGTGTGGCCAGTGAGGGCCTGGGGTCCCGGGGGTCTCTGGGGGCCGTGGAACAGCTTGGAAGCAGAAGCCTGTCGGTCCCAAAACTCCCATAGCTTTCTTATCTTCATAAAAGTCACCACCCACCTGTTCGGCCACACACATGCAGTTGTTCTGAGCCCTTCCCTTGCCCTCACGCCCCACACAGAAGCACTCAGCCATGGACTCTGTCAGTTTCACCTTCTACAGTTGTACATTTCTCCCACCACCTCTGGCTGAACTCCATCCCCTCCTGACTGGACCATCCTGGCAGCCTCTTCCCTGGCCTCTAGGCTCCTCTCCCTGCTCCCCCAGTCTGTTCCCCACCCAGAGACCTTGTGAACACCTGAGTCAGATCAGGGCCCTTCCAGACTCAGAACCCTCCCCTGCCTGCACCTCACTCCAGAAACAGTGGGCAGTGCTTAACCCTAGCATCAGCCTTGGGGGCTCAGTGTCAGGGTGGGGACAGGTGTGGCTGTGGTGAAGTCTGGAATGCATCCGAGTCACAGAGCCAGCATTTGGGGGTAGAATCAGGATGTTGGGGCCAGCATCAGTGTCGGGGACTGGGGAGTGGTTCGGAGTCAGCCAGCCTTGAGGGGGTCAGAGTCTTGGCATCAGTGTGGGGTGGGGTCCTGGTTCAAAGGTCGGCATGTGAGGGTAGGTCAGAGTTTAGAGGCTTAGTGTGCAAGATTGGGTCAGTGCTGAAAAGCCAGCCCCCCGCCCCCAGGCCCAGCCTCACCATGGAGTCCCCAATGTAGCGTGTGAGGCACAGGAACACGTCCCCACCAGCCTGGAAGTGGCGTGTGGCATAGACATCCTCGGCCTCGGGGATGTCTGTGCGTCTCTCGAAGCGGCCACCGGTCCAGTGGAAGAGCACGGGCCGCTGGGAAGCCGAGGCCAGCAGCAGGTGGGGCCGGCCGTCCAGCTCCAGGGCCTCAGCGTCCGTGTCCCGGTGCCAGGCGTGCAGGCTCTGGTGCGGGTAAAAGCCGGGCCCGTCGCGGCACAGCAGCGTGGTGCTGCCCGCCTTGGAGGCATCGGCCACCACGAAGCAGGGTTGCCCTTCCAGCCACAGGAGCTCGGCGTCATTGGGCCGCAGCAGCCGCCGCGGGGCCAGGGTCTGCGTTGGGGCCAGGCGCAGGCCGGGACTGGGCCGGGCCCACAGCTGTGAGCCCCCCCACAGGCGGGCAGCCAGCACGAAGAGGCTCGGGCCCAGCACCAGTGGCTTGCAGGACACCACGGAGGCCGCTGTGGGGAGGTGGGGAGGCAGGTCAGGCCAGCCAGGCAGGCTGCTGGACAGGCAGAAGGACGGGGAGGGGGCTCACCGGGCAGCTCTTCCTCGGGCCGGAAGCGCTGCAGGCTGTAGTCCCAGGAGAGAATCAGGCAGCGGCCGGCGAAGGGCTGTGCCAGCACAATGTGAGGCTCCCCTTGGTAGGAGAAGGGCTCTACGCTCAGTGCCGACTCCCCCACCGTCTGGAACCAGGACAGCTCTGTGGGTGGAGAAGAGAGTCAGGCAGGCCCCAGGACCCCCAGGGTCCTCATTGCTGAGCCTCAGTTTGCCTACATCTCTGAAATGGAGGCCATTCATGGTACCCCCCTCATAGGGACATATAACTGGAATCTTGATCTGTAGATGTTTGTTTGGTTTGGGTCGAGGGGTATTTTGTTTTGTTTTGAGACAGGGTCCCACTGTGTCTCCCAGGCTGAAGTGCAGTGGCACAATCATAGCTCAATGCAGCCTCCACCTTCTAGGCTCAAGCAATCCTCCTTCCTCAGCCTCTTAAGCTGAGACTACAGGTGTGTGCTACCATGGCTGGCTATTTTTTTATTTTTTGCAGAGATGGAGTCTTGCTATGTTGCCCAGGTTGGTCTGGAATTCCTAGGCTCAAGAGATCCTCCTGCCTTGACCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCTCCACCTCCTGGGTTCAAACAATTCTACTTCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCTACCACGCCCAGCTA 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TGAGGACAGACCAGCTGAAATTGGGTGGAGGACCGTTCTCTGTCCCCAGGTCCTGTCTCTGCACAGAAACTTGAACTCCAGGATGGAATTCTTCCTCCTCTGCTGGGACTCCTTTGCATGGCAGGGCCTCATCTCACCTCTCGCAAGAGGGTCTCTTTGTTCAATTTTTTTTAATCTAAAATGATTGTGCCTCTGCCCAAGCAGCCTGGAGACTTCCTATGTGTGCATTGGGGTGGGGCTTGGGGCACCATGAGAAGGTTGGCGTGCCCTGGAGGCTGACACAGAGGCTGGCACTGAGCCTGCTTGTTGGGAAAAGCCCACAGGCCTGTTCCCTTGTGGCTTGGGACATGGCACAGGCCCGCCCTCTGCCTCCTCAGCCATGGGAACCTCATATGCAATTTGGGATTTACTAGTAGCCAAAAGGAATGAAAGAGAGCTCTAACCAGATGGAACACTGGAACATTCCAGTGGACCCTGGACCATTCCAGGAAAACTGGGACATAGGATCGTCCCGCTATGATGGAAGTGTTCAGACAGTTTATAATAGTAAGCCCCTGTGACCCTCTCACTTACCCCGAGACCTCACTTTATTACAAGATCTTTCCAAATACCCAAATGTCCCTGCAAGCCCGTTAAATAATTCCCTATGCTACCCTTAATAACATACAATGACCACATAGTGTGAGAACTTCCAACAAGCCTCAAAGTCCCTTGAGACTCCCCAATACCTAATAAGGCATGCGAAATGTTCTCATGAACTACCCCACAACACGCCTAAAACTCAAAACACCCAAAAATATCTCCTCCAATGTCCTGAAACATGAACCCAAAAAGAGACCCACAATAAACTCGTGACTTGTCCCCTCATCATGCCGTTTTATCCCTCAAACATCCCCTGAGTCCCTCCATAACCACGAACCCACACTCAGAGACCATGAACTGCGGAAACGCCTCCCTGGGACCTGGGCCGCTCCGAGCACTGCTCCAGGGACACCATCCCCGCCCTGTGCCGTTCACAGGACATCCTCTCCCAAGGATCCACAACACTGGGCGGGGAGGGTGCACAGCGCATTTATTGAGCTCGGACTCGTCTTGTCCTTGCCTCCGTCGCCCATCTAGAAGGGCACCAGGCTCCCCGCGACACCTCCCGCTGTCCCTCCCTGTGCCCCGGCGCACGCGCAAGAGGCGCAAAAGGCACAGCTTGCTGGGCGGCCGCACGCATGCGCACAAGCAGCAGAGGGGAACCCGCCCAGTGCTGAGTTGTCTTCGAGGTTGGCGCTCCTCCAGGAAAGCGATTGGCTGCGTGGAGTTTAGAATGGGAAAGGAATGCCATCAACCCCTCGGTGCTTTCAGAGGGACCAGCGGGGTAGGAGCGGGTTGAGAGGGGGGCTCCGGGACCTCATGGAGCTCTGCACGTGACCTCCACCTCGACTCCATGCAGTGCACCAGCCTGCACCCCCCAGGTTGCCTTTGATGGGGAATCTGCCCCAGCCGAGATGTCCAGATGTTGCTTTAGACCTGAAGGGCAGCTCGGGAGGTCCAGTAGGCTGGGACCCTCTATGTCCCCCCATGGGTGCAGATCCTTTAAGAAGTGGGCTTAAGGCCTAGACGTGTGGCTGATGAACGTGGCCCACGGTCAGCAGCTCACAGGCGGGCCATCACCCCAAGTAGGGCCAGGAGCCAGCCAAGGGGCCGTCCAGGGGCCCCAGCCATGCCCAGAGTCCCGTTGGTGGTCTCAGGCACTGAGGTCGATCTCGTGATGCTGGTAGATCTGTGTGGGGCCCTTAAAGCAAGCAGCAAAGAGGAAGCGTCTGCCGGCCATAGTGATGTGGGCAAAGGCACGGGGGGCCACCAGGGCCGGAGGCCCCAGCTCCTGCAGTGGCTCCAGGAGCCCCTTGTCAGGCTCAAGGCGGAGGACCTGGCTGAAGGCGAAGTCGCTGCCTAGGATGGCCAGCTGGTCCCTGGCGATGAGCAGTGGCTGGAAGACGTGGGCACCGCGCGAGGGAAGTTGCTGCAGCAGACGAAACATGGAGCCGTCCCAGCGCATGTCCTGTGGGGGTGTGGCCAGTGAGGGCCTGGGGTCCCGGGGGTCTCTGGGGGCCGTGGAACAGCTTGGAAGCAGAAGCCTGTCGGTCCCAAAACTCCCATAGCTTTCTTATCTTCATAAAAGTCACCACCCACCTGTTCGGCCACACACATGCAGTTGTTCTGAGCCCTTCCCTTGCCCTCACGCCCCACACAGAAGCACTCAGCCATGGACTCTGTCAGTTTCACCTTCTACAGTTGTACATTTCTCCCACCACCTCTGGCTGAACTCCATCCCCTCCTGACTGGACCATCCTGGCAGCCTCTTCCCTGGCCTCTAGGCTCCTCTCCCTGCTCCCCCAGTCTGTTCCCCACCCAGAGACCTTGTGAACACCTGAGTCAGATCAGGGCCCTTCCAGACTCAGAACCCTCCCCTGCCTGCACCTCACTCCAGAAACAGTGGGCAGTGCTTAACCCTAGCATCAGCCTTGGGGGCTCAGTGTCAGGGTGGGGACAGGTGTGGCTGTGGTGAAGTCTGGAATGCATCCGAGTCACAGAGCCAGCATTTGGGGGTAGAATCAGGATGTTGGGGCCAGCATCAGTGTCGGGGACTGGGGAGTGGTTCGGAGTCAGCCAGCCTTGAGGGGGTCAGAGTCTTGGCATCAGTGTGGGGTGGGGTCCTGGTTCAAAGGTCGGCATGTGAGGGTAGGTCAGAGTTTAGAGGCTTAGTGTGCAAGATTGGGTCAGTGCTGAAAAGCCAGCCCCCCGCCCCCAGGCCCAGCCTCACCATGGAGTCCCCAATGTAGCGTGTGAGGCACAGGAACACGTCCCCACCAGCCTGGAAGTGGCGTGTGGCATAGACATCCTCGGCCTCGGGGATGTCTGTGCGTCTCTCGAAGCGGCCACCGGTCCAGTGGAAGAGCACGGGCCGCTGGGAAGCCGAGGCCAGCAGCAGGTGGGGCCGGCCGTCCAGCTCCAGGGCCTCAGCGTCCGTGTCCCGGTGCCAGGCGTGCAGGCTCTGGTGCGGGTAAAAGCCGGGCCCGTCGCGGCACAGCAGCGTGGTGCTGCCCGCCTTGGAGGCATCGGCCACCACGAAGCAGGGTTGCCCTTCCAGCCACAGGAGCTCGGCGTCATTGGGCCGCAGCAGCCGCCGCGGGGCCAGGGTCTGCGTTGGGGCCAGGCGCAGGCCGGGACTGGGCCGGGCCCACAGCTGTGAGCCCCCCCACAGGCGGGCAGCCAGCACGAAGAGGCTCGGGCCCAGCACCAGTGGCTTGCAGGACACCACGGAGGCCGCTGTGGGGAGGTGGGGAGGCAGGTCAGGCCAGCCAGGCAGGCTGCTGGACAGGCAGAAGGACGGGGAGGGGGCTCACCGGGCAGCTCTTCCTCGGGCCGGAAGCGCTGCAGGCTGTAGTCCCAGGAGAGAATCAGGCAGCGGCCGGCGAAGGGCTGTGCCAGCACAATGTGAGGCTCCCCTTGGTAGGAGAAGGGCTCTACGCTCAGTGCCGACTCCCCCACCGTCTGGAACCAGGACAGCTCTGTGGGTGGAGAAGAGAGTCAGGCAGGCCCCAGGACCCCCAGGGTCCTCATTGCTGAGCCTCAGTTTGCCTACATCTCTGAAATGGAGGCCATTCATGGTACCCCCCTCATAGGGACATATAACTGGAATCTTGATCTGTAGATGTTTGTTTGGTTTGGGTCGAGGGGTATTTTGTTTTGTTTTGAGACAGGGTCCCACTGTGTCTCCCAGGCTGAAGTGCAGTGGCACAATCATAGCTCAATGCAGCCTCCACCTTCTAGGCTCAAGCAATCCTCCTTCCTCAGCCTCTTAAGCTGAGACTACAGGTGTGTGCTACCATGGCTGGCTATTTTTTTATTTTTTGCAGAGATGGAGTCTTGCTATGTTGCCCAGGTTGGTCTGGAATTCCTAGGCTCAAGAGATCCTCCTGCCTTGACCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCTCCACCTCCTGGGTTCAAACAATTCTACTTCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCTACCACGCCCAGCTA 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Task1_train_27030 | The gene LGI4 (leucine rich repeat LGI family member 4) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect | TTTCAGAGGGACCAGCGGGGTAGGAGCGGGTTGAGAGGGGGGCTCCGGGACCTCATGGAGCTCTGCACGTGACCTCCACCTCGACTCCATGCAGTGCACCAGCCTGCACCCCCCAGGTTGCCTTTGATGGGGAATCTGCCCCAGCCGAGATGTCCAGATGTTGCTTTAGACCTGAAGGGCAGCTCGGGAGGTCCAGTAGGCTGGGACCCTCTATGTCCCCCCATGGGTGCAGATCCTTTAAGAAGTGGGCTTAAGGCCTAGACGTGTGGCTGATGAACGTGGCCCACGGTCAGCAGCTCACAGGCGGGCCATCACCCCAAGTAGGGCCAGGAGCCAGCCAAGGGGCCGTCCAGGGGCCCCAGCCATGCCCAGAGTCCCGTTGGTGGTCTCAGGCACTGAGGTCGATCTCGTGATGCTGGTAGATCTGTGTGGGGCCCTTAAAGCAAGCAGCAAAGAGGAAGCGTCTGCCGGCCATAGTGATGTGGGCAAAGGCACGGGGGGCCACCAGGGCCGGAGGCCCCAGCTCCTGCAGTGGCTCCAGGAGCCCCTTGTCAGGCTCAAGGCGGAGGACCTGGCTGAAGGCGAAGTCGCTGCCTAGGATGGCCAGCTGGTCCCTGGCGATGAGCAGTGGCTGGAAGACGTGGGCACCGCGCGAGGGAAGTTGCTGCAGCAGACGAAACATGGAGCCGTCCCAGCGCATGACCTGTGGGGGTGTGGCCAGTGAGGGCCTGGGGTCCCGGGGGTCTCTGGGGGCCGTGGAACAGCTTGGAAGCAGAAGCCTGTCGGTCCCAAAACTCCCATAGCTTTCTTATCTTCATAAAAGTCACCACCCACCTGTTCGGCCACACACATGCAGTTGTTCTGAGCCCTTCCCTTGCCCTCACGCCCCACACAGAAGCACTCAGCCATGGACTCTGTCAGTTTCACCTTCTACAGTTGTACATTTCTCCCACCACCTCTGGCTGAACTCCATCCCCTCCTGACTGGACCATCCTGGCAGCCTCTTCCCTGGCCTCTAGGCTCCTCTCCCTGCTCCCCCAGTCTGTTCCCCACCCAGAGACCTTGTGAACACCTGAGTCAGATCAGGGCCCTTCCAGACTCAGAACCCTCCCCTGCCTGCACCTCACTCCAGAAACAGTGGGCAGTGCTTAACCCTAGCATCAGCCTTGGGGGCTCAGTGTCAGGGTGGGGACAGGTGTGGCTGTGGTGAAGTCTGGAATGCATCCGAGTCACAGAGCCAGCATTTGGGGGTAGAATCAGGATGTTGGGGCCAGCATCAGTGTCGGGGACTGGGGAGTGGTTCGGAGTCAGCCAGCCTTGAGGGGGTCAGAGTCTTGGCATCAGTGTGGGGTGGGGTCCTGGTTCAAAGGTCGGCATGTGAGGGTAGGTCAGAGTTTAGAGGCTTAGTGTGCAAGATTGGGTCAGTGCTGAAAAGCCAGCCCCCCGCCCCCAGGCCCAGCCTCACCATGGAGTCCCCAATGTAGCGTGTGAGGCACAGGAACACGTCCCCACCAGCCTGGAAGTGGCGTGTGGCATAGACATCCTCGGCCTCGGGGATGTCTGTGCGTCTCTCGAAGCGGCCACCGGTCCAGTGGAAGAGCACGGGCCGCTGGGAAGCCGAGGCCAGCAGCAGGTGGGGCCGGCCGTCCAGCTCCAGGGCCTCAGCGTCCGTGTCCCGGTGCCAGGCGTGCAGGCTCTGGTGCGGGTAAAAGCCGGGCCCGTCGCGGCACAGCAGCGTGGTGCTGCCCGCCTTGGAGGCATCGGCCACCACGAAGCAGGGTTGCCCTTCCAGCCACAGGAGCTCGGCGTCATTGGGCCGCAGCAGCCGCCGCGGGGCCAGGGTCTGCGTTGGGGCCAGGCGCAGGCCGGGACTGGGCCGGGCCCACAGCTGTGAGCCCCCCCACAGGCGGGCAGCCAGCACGAAGAGGCTCGGGCCCAGCACCAGTGGCTTGCAGGACACCACGGAGGCCGCTGTGGGGAGGTGGGGAGGCAGGTCAGGCCAGCCAGGCAGGCTGCTGGACAGGCAGAAGGACGGGGAGGGGGCTCACCGGGCAGCTCTTCCTCGGGCCGGAAGCGCTGCAGGCTGTAGTCCCAGGAGAGAATCAGGCAGCGGCCGGCGAAGGGCTGTGCCAGCACAATGTGAGGCTCCCCTTGGTAGGAGAAGGGCTCTACGCTCAGTGCCGACTCCCCCACCGTCTGGAACCAGGACAGCTCTGTGGGTGGAGAAGAGAGTCAGGCAGGCCCCAGGACCCCCAGGGTCCTCATTGCTGAGCCTCAGTTTGCCTACATCTCTGAAATGGAGGCCATTCATGGTACCCCCCTCATAGGGACATATAACTGGAATCTTGATCTGTAGATGTTTGTTTGGTTTGGGTCGAGGGGTATTTTGTTTTGTTTTGAGACAGGGTCCCACTGTGTCTCCCAGGCTGAAGTGCAGTGGCACAATCATAGCTCAATGCAGCCTCCACCTTCTAGGCTCAAGCAATCCTCCTTCCTCAGCCTCTTAAGCTGAGACTACAGGTGTGTGCTACCATGGCTGGCTATTTTTTTATTTTTTGCAGAGATGGAGTCTTGCTATGTTGCCCAGGTTGGTCTGGAATTCCTAGGCTCAAGAGATCCTCCTGCCTTGACCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCTCCACCTCCTGGGTTCAAACAATTCTACTTCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCTACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCATAATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGGCACCGTGCCCGGCCCATAAATCTTATTTTCTAAGCTGTGTGGCATCACCAAATAATCCCTTAGAAACAGCATCTGGATTAATTCATTTAACTTCACAACATCCCTGTGAGGTACATTCTGTGATGATTTCCCCTTCGCAGATGAGAAAACAAAGGCTAACTGGCACAGGCAGTCTGTTATCCAACAAAATCCATCCTTCCCACCTTCCAGGAGAGAGGATTGGAGCTGGTCACCAGGCCACCCAGCTAGAGGCTGCATTATCCCGGGACCCCCATTCACCGCCCTCGCTGAAAGTTAGATGTGGCTGTTTTGAGACTGAGTAACCAGTGGAACAAGGGCAGATGTGATGAGTGTAATGAGCCACCACACCTGGAAACAGCTTGTCCCAACTTGGTCTCCTTTCCCACCACGTGGGTGTGCCACAACCTGGTTTCAAGCCTGAAAGCAAGGACAATGCCCAGGGACTGCCCCACGTACCTGGACAGCTCACTCCAGATCCTTCTATCCTTAATTCATGGTATTTTGAGAGTTTGTGACAGCGGCTTGGCTTTCATTGTCACTGGGGCACCAAGGCTGCTCCGCTTGTTAGTAGGGGAGCTGGGCAGTTGACTCCAGGCTGTAATATTTCACTCTGCGTGCCAGGCCCTGTTTCCAGGTGCCAGCGTTGAAGCAATGAGCCAAACTACATATAATGCCCACCTAAAGGGCGAATCTTTTTTAAATGGCTATCAAATCACCTCTTGCTCAAAACTCTCAGCCGAGAGTGGTGGCTCACGCCTGTAATCCCCACATTTTGGGAAGCCAAGGCAGATGGATCAGTAGAGCCCAGGAGTTCGAGAGCAGCCTGGACAACATGGTGAAAACCCCATCTCTACAAAAAATACAAAAAATTAGCAGGCATGGTGGTGGTGCACCTGTAGCCCCAGCTACCAGGGAGGCTGGGGCAGGAGGATCACCTGAGCCTGGGGAGGTCAAGGCCTCAGTGAGCCGTGATTGTACCACTGAACTCCAGCCTGGGCGACAGAGTGAGATCCTGTTTCAAATAAACAAACAAACATACAAAAAACTTTCTATTCTTGCCATGGCCCAGAATAAAGTCTCCTCTCCTCTCTGTGGCTTCCAAAATCCATACCTGTCCCTCCACTCACTACCCCTGAGCCACACCTGCCTTCGTTTGATCTTCAAACAGGGCACACTGTATGCTGCCTCAGGGCCACCGGCCAGGCTGT 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TTTCAGAGGGACCAGCGGGGTAGGAGCGGGTTGAGAGGGGGGCTCCGGGACCTCATGGAGCTCTGCACGTGACCTCCACCTCGACTCCATGCAGTGCACCAGCCTGCACCCCCCAGGTTGCCTTTGATGGGGAATCTGCCCCAGCCGAGATGTCCAGATGTTGCTTTAGACCTGAAGGGCAGCTCGGGAGGTCCAGTAGGCTGGGACCCTCTATGTCCCCCCATGGGTGCAGATCCTTTAAGAAGTGGGCTTAAGGCCTAGACGTGTGGCTGATGAACGTGGCCCACGGTCAGCAGCTCACAGGCGGGCCATCACCCCAAGTAGGGCCAGGAGCCAGCCAAGGGGCCGTCCAGGGGCCCCAGCCATGCCCAGAGTCCCGTTGGTGGTCTCAGGCACTGAGGTCGATCTCGTGATGCTGGTAGATCTGTGTGGGGCCCTTAAAGCAAGCAGCAAAGAGGAAGCGTCTGCCGGCCATAGTGATGTGGGCAAAGGCACGGGGGGCCACCAGGGCCGGAGGCCCCAGCTCCTGCAGTGGCTCCAGGAGCCCCTTGTCAGGCTCAAGGCGGAGGACCTGGCTGAAGGCGAAGTCGCTGCCTAGGATGGCCAGCTGGTCCCTGGCGATGAGCAGTGGCTGGAAGACGTGGGCACCGCGCGAGGGAAGTTGCTGCAGCAGACGAAACATGGAGCCGTCCCAGCGCATGACCTGTGGGGGTGTGGCCAGTGAGGGCCTGGGGTCCCGGGGGTCTCTGGGGGCCGTGGAACAGCTTGGAAGCAGAAGCCTGTCGGTCCCAAAACTCCCATAGCTTTCTTATCTTCATAAAAGTCACCACCCACCTGTTCGGCCACACACATGCAGTTGTTCTGAGCCCTTCCCTTGCCCTCACGCCCCACACAGAAGCACTCAGCCATGGACTCTGTCAGTTTCACCTTCTACAGTTGTACATTTCTCCCACCACCTCTGGCTGAACTCCATCCCCTCCTGACTGGACCATCCTGGCAGCCTCTTCCCTGGCCTCTAGGCTCCTCTCCCTGCTCCCCCAGTCTGTTCCCCACCCAGAGACCTTGTGAACACCTGAGTCAGATCAGGGCCCTTCCAGACTCAGAACCCTCCCCTGCCTGCACCTCACTCCAGAAACAGTGGGCAGTGCTTAACCCTAGCATCAGCCTTGGGGGCTCAGTGTCAGGGTGGGGACAGGTGTGGCTGTGGTGAAGTCTGGAATGCATCCGAGTCACAGAGCCAGCATTTGGGGGTAGAATCAGGATGTTGGGGCCAGCATCAGTGTCGGGGACTGGGGAGTGGTTCGGAGTCAGCCAGCCTTGAGGGGGTCAGAGTCTTGGCATCAGTGTGGGGTGGGGTCCTGGTTCAAAGGTCGGCATGTGAGGGTAGGTCAGAGTTTAGAGGCTTAGTGTGCAAGATTGGGTCAGTGCTGAAAAGCCAGCCCCCCGCCCCCAGGCCCAGCCTCACCATGGAGTCCCCAATGTAGCGTGTGAGGCACAGGAACACGTCCCCACCAGCCTGGAAGTGGCGTGTGGCATAGACATCCTCGGCCTCGGGGATGTCTGTGCGTCTCTCGAAGCGGCCACCGGTCCAGTGGAAGAGCACGGGCCGCTGGGAAGCCGAGGCCAGCAGCAGGTGGGGCCGGCCGTCCAGCTCCAGGGCCTCAGCGTCCGTGTCCCGGTGCCAGGCGTGCAGGCTCTGGTGCGGGTAAAAGCCGGGCCCGTCGCGGCACAGCAGCGTGGTGCTGCCCGCCTTGGAGGCATCGGCCACCACGAAGCAGGGTTGCCCTTCCAGCCACAGGAGCTCGGCGTCATTGGGCCGCAGCAGCCGCCGCGGGGCCAGGGTCTGCGTTGGGGCCAGGCGCAGGCCGGGACTGGGCCGGGCCCACAGCTGTGAGCCCCCCCACAGGCGGGCAGCCAGCACGAAGAGGCTCGGGCCCAGCACCAGTGGCTTGCAGGACACCACGGAGGCCGCTGTGGGGAGGTGGGGAGGCAGGTCAGGCCAGCCAGGCAGGCTGCTGGACAGGCAGAAGGACGGGGAGGGGGCTCACTGGGCAGCTCTTCCTCGGGCCGGAAGCGCTGCAGGCTGTAGTCCCAGGAGAGAATCAGGCAGCGGCCGGCGAAGGGCTGTGCCAGCACAATGTGAGGCTCCCCTTGGTAGGAGAAGGGCTCTACGCTCAGTGCCGACTCCCCCACCGTCTGGAACCAGGACAGCTCTGTGGGTGGAGAAGAGAGTCAGGCAGGCCCCAGGACCCCCAGGGTCCTCATTGCTGAGCCTCAGTTTGCCTACATCTCTGAAATGGAGGCCATTCATGGTACCCCCCTCATAGGGACATATAACTGGAATCTTGATCTGTAGATGTTTGTTTGGTTTGGGTCGAGGGGTATTTTGTTTTGTTTTGAGACAGGGTCCCACTGTGTCTCCCAGGCTGAAGTGCAGTGGCACAATCATAGCTCAATGCAGCCTCCACCTTCTAGGCTCAAGCAATCCTCCTTCCTCAGCCTCTTAAGCTGAGACTACAGGTGTGTGCTACCATGGCTGGCTATTTTTTTATTTTTTGCAGAGATGGAGTCTTGCTATGTTGCCCAGGTTGGTCTGGAATTCCTAGGCTCAAGAGATCCTCCTGCCTTGACCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCTCCACCTCCTGGGTTCAAACAATTCTACTTCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCTACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCATAATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGGCACCGTGCCCGGCCCATAAATCTTATTTTCTAAGCTGTGTGGCATCACCAAATAATCCCTTAGAAACAGCATCTGGATTAATTCATTTAACTTCACAACATCCCTGTGAGGTACATTCTGTGATGATTTCCCCTTCGCAGATGAGAAAACAAAGGCTAACTGGCACAGGCAGTCTGTTATCCAACAAAATCCATCCTTCCCACCTTCCAGGAGAGAGGATTGGAGCTGGTCACCAGGCCACCCAGCTAGAGGCTGCATTATCCCGGGACCCCCATTCACCGCCCTCGCTGAAAGTTAGATGTGGCTGTTTTGAGACTGAGTAACCAGTGGAACAAGGGCAGATGTGATGAGTGTAATGAGCCACCACACCTGGAAACAGCTTGTCCCAACTTGGTCTCCTTTCCCACCACGTGGGTGTGCCACAACCTGGTTTCAAGCCTGAAAGCAAGGACAATGCCCAGGGACTGCCCCACGTACCTGGACAGCTCACTCCAGATCCTTCTATCCTTAATTCATGGTATTTTGAGAGTTTGTGACAGCGGCTTGGCTTTCATTGTCACTGGGGCACCAAGGCTGCTCCGCTTGTTAGTAGGGGAGCTGGGCAGTTGACTCCAGGCTGTAATATTTCACTCTGCGTGCCAGGCCCTGTTTCCAGGTGCCAGCGTTGAAGCAATGAGCCAAACTACATATAATGCCCACCTAAAGGGCGAATCTTTTTTAAATGGCTATCAAATCACCTCTTGCTCAAAACTCTCAGCCGAGAGTGGTGGCTCACGCCTGTAATCCCCACATTTTGGGAAGCCAAGGCAGATGGATCAGTAGAGCCCAGGAGTTCGAGAGCAGCCTGGACAACATGGTGAAAACCCCATCTCTACAAAAAATACAAAAAATTAGCAGGCATGGTGGTGGTGCACCTGTAGCCCCAGCTACCAGGGAGGCTGGGGCAGGAGGATCACCTGAGCCTGGGGAGGTCAAGGCCTCAGTGAGCCGTGATTGTACCACTGAACTCCAGCCTGGGCGACAGAGTGAGATCCTGTTTCAAATAAACAAACAAACATACAAAAAACTTTCTATTCTTGCCATGGCCCAGAATAAAGTCTCCTCTCCTCTCTGTGGCTTCCAAAATCCATACCTGTCCCTCCACTCACTACCCCTGAGCCACACCTGCCTTCGTTTGATCTTCAAACAGGGCACACTGTATGCTGCCTCAGGGCCACCGGCCAGGCTGT 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Task1_train_27031 | This mutation occurs in LGI4 (leucine rich repeat LGI family member 4) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect | TAGGAGCGGGTTGAGAGGGGGGCTCCGGGACCTCATGGAGCTCTGCACGTGACCTCCACCTCGACTCCATGCAGTGCACCAGCCTGCACCCCCCAGGTTGCCTTTGATGGGGAATCTGCCCCAGCCGAGATGTCCAGATGTTGCTTTAGACCTGAAGGGCAGCTCGGGAGGTCCAGTAGGCTGGGACCCTCTATGTCCCCCCATGGGTGCAGATCCTTTAAGAAGTGGGCTTAAGGCCTAGACGTGTGGCTGATGAACGTGGCCCACGGTCAGCAGCTCACAGGCGGGCCATCACCCCAAGTAGGGCCAGGAGCCAGCCAAGGGGCCGTCCAGGGGCCCCAGCCATGCCCAGAGTCCCGTTGGTGGTCTCAGGCACTGAGGTCGATCTCGTGATGCTGGTAGATCTGTGTGGGGCCCTTAAAGCAAGCAGCAAAGAGGAAGCGTCTGCCGGCCATAGTGATGTGGGCAAAGGCACGGGGGGCCACCAGGGCCGGAGGCCCCAGCTCCTGCAGTGGCTCCAGGAGCCCCTTGTCAGGCTCAAGGCGGAGGACCTGGCTGAAGGCGAAGTCGCTGCCTAGGATGGCCAGCTGGTCCCTGGCGATGAGCAGTGGCTGGAAGACGTGGGCACCGCGCGAGGGAAGTTGCTGCAGCAGACGAAACATGGAGCCGTCCCAGCGCATGACCTGTGGGGGTGTGGCCAGTGAGGGCCTGGGGTCCCGGGGGTCTCTGGGGGCCGTGGAACAGCTTGGAAGCAGAAGCCTGTCGGTCCCAAAACTCCCATAGCTTTCTTATCTTCATAAAAGTCACCACCCACCTGTTCGGCCACACACATGCAGTTGTTCTGAGCCCTTCCCTTGCCCTCACGCCCCACACAGAAGCACTCAGCCATGGACTCTGTCAGTTTCACCTTCTACAGTTGTACATTTCTCCCACCACCTCTGGCTGAACTCCATCCCCTCCTGACTGGACCATCCTGGCAGCCTCTTCCCTGGCCTCTAGGCTCCTCTCCCTGCTCCCCCAGTCTGTTCCCCACCCAGAGACCTTGTGAACACCTGAGTCAGATCAGGGCCCTTCCAGACTCAGAACCCTCCCCTGCCTGCACCTCACTCCAGAAACAGTGGGCAGTGCTTAACCCTAGCATCAGCCTTGGGGGCTCAGTGTCAGGGTGGGGACAGGTGTGGCTGTGGTGAAGTCTGGAATGCATCCGAGTCACAGAGCCAGCATTTGGGGGTAGAATCAGGATGTTGGGGCCAGCATCAGTGTCGGGGACTGGGGAGTGGTTCGGAGTCAGCCAGCCTTGAGGGGGTCAGAGTCTTGGCATCAGTGTGGGGTGGGGTCCTGGTTCAAAGGTCGGCATGTGAGGGTAGGTCAGAGTTTAGAGGCTTAGTGTGCAAGATTGGGTCAGTGCTGAAAAGCCAGCCCCCCGCCCCCAGGCCCAGCCTCACCATGGAGTCCCCAATGTAGCGTGTGAGGCACAGGAACACGTCCCCACCAGCCTGGAAGTGGCGTGTGGCATAGACATCCTCGGCCTCGGGGATGTCTGTGCGTCTCTCGAAGCGGCCACCGGTCCAGTGGAAGAGCACGGGCCGCTGGGAAGCCGAGGCCAGCAGCAGGTGGGGCCGGCCGTCCAGCTCCAGGGCCTCAGCGTCCGTGTCCCGGTGCCAGGCGTGCAGGCTCTGGTGCGGGTAAAAGCCGGGCCCGTCGCGGCACAGCAGCGTGGTGCTGCCCGCCTTGGAGGCATCGGCCACCACGAAGCAGGGTTGCCCTTCCAGCCACAGGAGCTCGGCGTCATTGGGCCGCAGCAGCCGCCGCGGGGCCAGGGTCTGCGTTGGGGCCAGGCGCAGGCCGGGACTGGGCCGGGCCCACAGCTGTGAGCCCCCCCACAGGCGGGCAGCCAGCACGAAGAGGCTCGGGCCCAGCACCAGTGGCTTGCAGGACACCACGGAGGCCGCTGTGGGGAGGTGGGGAGGCAGGTCAGGCCAGCCAGGCAGGCTGCTGGACAGGCAGAAGGACGGGGAGGGGGCTCACCGGGCAGCTCTTCCTCGGGCCGGAAGCGCTGCAGGCTGTAGTCCCAGGAGAGAATCAGGCAGCGGCCGGCGAAGGGCTGTGCCAGCACAATGTGAGGCTCCCCTTGGTAGGAGAAGGGCTCTACGCTCAGTGCCGACTCCCCCACCGTCTGGAACCAGGACAGCTCTGTGGGTGGAGAAGAGAGTCAGGCAGGCCCCAGGACCCCCAGGGTCCTCATTGCTGAGCCTCAGTTTGCCTACATCTCTGAAATGGAGGCCATTCATGGTACCCCCCTCATAGGGACATATAACTGGAATCTTGATCTGTAGATGTTTGTTTGGTTTGGGTCGAGGGGTATTTTGTTTTGTTTTGAGACAGGGTCCCACTGTGTCTCCCAGGCTGAAGTGCAGTGGCACAATCATAGCTCAATGCAGCCTCCACCTTCTAGGCTCAAGCAATCCTCCTTCCTCAGCCTCTTAAGCTGAGACTACAGGTGTGTGCTACCATGGCTGGCTATTTTTTTATTTTTTGCAGAGATGGAGTCTTGCTATGTTGCCCAGGTTGGTCTGGAATTCCTAGGCTCAAGAGATCCTCCTGCCTTGACCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCTCCACCTCCTGGGTTCAAACAATTCTACTTCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCTACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCATAATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGGCACCGTGCCCGGCCCATAAATCTTATTTTCTAAGCTGTGTGGCATCACCAAATAATCCCTTAGAAACAGCATCTGGATTAATTCATTTAACTTCACAACATCCCTGTGAGGTACATTCTGTGATGATTTCCCCTTCGCAGATGAGAAAACAAAGGCTAACTGGCACAGGCAGTCTGTTATCCAACAAAATCCATCCTTCCCACCTTCCAGGAGAGAGGATTGGAGCTGGTCACCAGGCCACCCAGCTAGAGGCTGCATTATCCCGGGACCCCCATTCACCGCCCTCGCTGAAAGTTAGATGTGGCTGTTTTGAGACTGAGTAACCAGTGGAACAAGGGCAGATGTGATGAGTGTAATGAGCCACCACACCTGGAAACAGCTTGTCCCAACTTGGTCTCCTTTCCCACCACGTGGGTGTGCCACAACCTGGTTTCAAGCCTGAAAGCAAGGACAATGCCCAGGGACTGCCCCACGTACCTGGACAGCTCACTCCAGATCCTTCTATCCTTAATTCATGGTATTTTGAGAGTTTGTGACAGCGGCTTGGCTTTCATTGTCACTGGGGCACCAAGGCTGCTCCGCTTGTTAGTAGGGGAGCTGGGCAGTTGACTCCAGGCTGTAATATTTCACTCTGCGTGCCAGGCCCTGTTTCCAGGTGCCAGCGTTGAAGCAATGAGCCAAACTACATATAATGCCCACCTAAAGGGCGAATCTTTTTTAAATGGCTATCAAATCACCTCTTGCTCAAAACTCTCAGCCGAGAGTGGTGGCTCACGCCTGTAATCCCCACATTTTGGGAAGCCAAGGCAGATGGATCAGTAGAGCCCAGGAGTTCGAGAGCAGCCTGGACAACATGGTGAAAACCCCATCTCTACAAAAAATACAAAAAATTAGCAGGCATGGTGGTGGTGCACCTGTAGCCCCAGCTACCAGGGAGGCTGGGGCAGGAGGATCACCTGAGCCTGGGGAGGTCAAGGCCTCAGTGAGCCGTGATTGTACCACTGAACTCCAGCCTGGGCGACAGAGTGAGATCCTGTTTCAAATAAACAAACAAACATACAAAAAACTTTCTATTCTTGCCATGGCCCAGAATAAAGTCTCCTCTCCTCTCTGTGGCTTCCAAAATCCATACCTGTCCCTCCACTCACTACCCCTGAGCCACACCTGCCTTCGTTTGATCTTCAAACAGGGCACACTGTATGCTGCCTCAGGGCCACCGGCCAGGCTGTTCCCTCTCTCTGAAGAGCCC 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TAGGAGCGGGTTGAGAGGGGGGCTCCGGGACCTCATGGAGCTCTGCACGTGACCTCCACCTCGACTCCATGCAGTGCACCAGCCTGCACCCCCCAGGTTGCCTTTGATGGGGAATCTGCCCCAGCCGAGATGTCCAGATGTTGCTTTAGACCTGAAGGGCAGCTCGGGAGGTCCAGTAGGCTGGGACCCTCTATGTCCCCCCATGGGTGCAGATCCTTTAAGAAGTGGGCTTAAGGCCTAGACGTGTGGCTGATGAACGTGGCCCACGGTCAGCAGCTCACAGGCGGGCCATCACCCCAAGTAGGGCCAGGAGCCAGCCAAGGGGCCGTCCAGGGGCCCCAGCCATGCCCAGAGTCCCGTTGGTGGTCTCAGGCACTGAGGTCGATCTCGTGATGCTGGTAGATCTGTGTGGGGCCCTTAAAGCAAGCAGCAAAGAGGAAGCGTCTGCCGGCCATAGTGATGTGGGCAAAGGCACGGGGGGCCACCAGGGCCGGAGGCCCCAGCTCCTGCAGTGGCTCCAGGAGCCCCTTGTCAGGCTCAAGGCGGAGGACCTGGCTGAAGGCGAAGTCGCTGCCTAGGATGGCCAGCTGGTCCCTGGCGATGAGCAGTGGCTGGAAGACGTGGGCACCGCGCGAGGGAAGTTGCTGCAGCAGACGAAACATGGAGCCGTCCCAGCGCATGACCTGTGGGGGTGTGGCCAGTGAGGGCCTGGGGTCCCGGGGGTCTCTGGGGGCCGTGGAACAGCTTGGAAGCAGAAGCCTGTCGGTCCCAAAACTCCCATAGCTTTCTTATCTTCATAAAAGTCACCACCCACCTGTTCGGCCACACACATGCAGTTGTTCTGAGCCCTTCCCTTGCCCTCACGCCCCACACAGAAGCACTCAGCCATGGACTCTGTCAGTTTCACCTTCTACAGTTGTACATTTCTCCCACCACCTCTGGCTGAACTCCATCCCCTCCTGACTGGACCATCCTGGCAGCCTCTTCCCTGGCCTCTAGGCTCCTCTCCCTGCTCCCCCAGTCTGTTCCCCACCCAGAGACCTTGTGAACACCTGAGTCAGATCAGGGCCCTTCCAGACTCAGAACCCTCCCCTGCCTGCACCTCACTCCAGAAACAGTGGGCAGTGCTTAACCCTAGCATCAGCCTTGGGGGCTCAGTGTCAGGGTGGGGACAGGTGTGGCTGTGGTGAAGTCTGGAATGCATCCGAGTCACAGAGCCAGCATTTGGGGGTAGAATCAGGATGTTGGGGCCAGCATCAGTGTCGGGGACTGGGGAGTGGTTCGGAGTCAGCCAGCCTTGAGGGGGTCAGAGTCTTGGCATCAGTGTGGGGTGGGGTCCTGGTTCAAAGGTCGGCATGTGAGGGTAGGTCAGAGTTTAGAGGCTTAGTGTGCAAGATTGGGTCAGTGCTGAAAAGCCAGCCCCCCGCCCCCAGGCCCAGCCTCACCATGGAGTCCCCAATGTAGCGTGTGAGGCACAGGAACACGTCCCCACCAGCCTGGAAGTGGCGTGTGGCATAGACATCCTCGGCCTCGGGGATGTCTGTGCGTCTCTCGAAGCGGCCACCGGTCCAGTGGAAGAGCACGGGCCGCTGGGAAGCCGAGGCCAGCAGCAGGTGGGGCCGGCCGTCCAGCTCCAGGGCCTCAGCGTCCGTGTCCCGGTGCCAGGCGTGCAGGCTCTGGTGCGGGTAAAAGCCGGGCCCGTCGCGGCACAGCAGCGTGGTGCTGCCCGCCTTGGAGGCATCGGCCACCACGAAGCAGGGTTGCCCTTCCAGCCACAGGAGCTCGGCGTCATTGGGCCGCAGCAGCCGCCGCGGGGCCAGGGTCTGCGTTGGGGCCAGGCGCAGGCCGGGACTGGGCCGGGCCCACAGCTGTGAGCCCCCCCACAGGCGGGCAGCCAGCACGAAGAGGCTCGGGCCCAGCACCAGTGGCTTGCAGGACACCACGGAGGCCGCTGTGGGGAGGTGGGGAGGCAGGTCAGGCCAGCCAGGCAGGCTGCTGGACAGGCAGAAGGACGGGGAGGGGGCTCACCGGGCAGCTCTTCCTCGGGCGGGAAGCGCTGCAGGCTGTAGTCCCAGGAGAGAATCAGGCAGCGGCCGGCGAAGGGCTGTGCCAGCACAATGTGAGGCTCCCCTTGGTAGGAGAAGGGCTCTACGCTCAGTGCCGACTCCCCCACCGTCTGGAACCAGGACAGCTCTGTGGGTGGAGAAGAGAGTCAGGCAGGCCCCAGGACCCCCAGGGTCCTCATTGCTGAGCCTCAGTTTGCCTACATCTCTGAAATGGAGGCCATTCATGGTACCCCCCTCATAGGGACATATAACTGGAATCTTGATCTGTAGATGTTTGTTTGGTTTGGGTCGAGGGGTATTTTGTTTTGTTTTGAGACAGGGTCCCACTGTGTCTCCCAGGCTGAAGTGCAGTGGCACAATCATAGCTCAATGCAGCCTCCACCTTCTAGGCTCAAGCAATCCTCCTTCCTCAGCCTCTTAAGCTGAGACTACAGGTGTGTGCTACCATGGCTGGCTATTTTTTTATTTTTTGCAGAGATGGAGTCTTGCTATGTTGCCCAGGTTGGTCTGGAATTCCTAGGCTCAAGAGATCCTCCTGCCTTGACCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCTCCACCTCCTGGGTTCAAACAATTCTACTTCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCTACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCATAATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGGCACCGTGCCCGGCCCATAAATCTTATTTTCTAAGCTGTGTGGCATCACCAAATAATCCCTTAGAAACAGCATCTGGATTAATTCATTTAACTTCACAACATCCCTGTGAGGTACATTCTGTGATGATTTCCCCTTCGCAGATGAGAAAACAAAGGCTAACTGGCACAGGCAGTCTGTTATCCAACAAAATCCATCCTTCCCACCTTCCAGGAGAGAGGATTGGAGCTGGTCACCAGGCCACCCAGCTAGAGGCTGCATTATCCCGGGACCCCCATTCACCGCCCTCGCTGAAAGTTAGATGTGGCTGTTTTGAGACTGAGTAACCAGTGGAACAAGGGCAGATGTGATGAGTGTAATGAGCCACCACACCTGGAAACAGCTTGTCCCAACTTGGTCTCCTTTCCCACCACGTGGGTGTGCCACAACCTGGTTTCAAGCCTGAAAGCAAGGACAATGCCCAGGGACTGCCCCACGTACCTGGACAGCTCACTCCAGATCCTTCTATCCTTAATTCATGGTATTTTGAGAGTTTGTGACAGCGGCTTGGCTTTCATTGTCACTGGGGCACCAAGGCTGCTCCGCTTGTTAGTAGGGGAGCTGGGCAGTTGACTCCAGGCTGTAATATTTCACTCTGCGTGCCAGGCCCTGTTTCCAGGTGCCAGCGTTGAAGCAATGAGCCAAACTACATATAATGCCCACCTAAAGGGCGAATCTTTTTTAAATGGCTATCAAATCACCTCTTGCTCAAAACTCTCAGCCGAGAGTGGTGGCTCACGCCTGTAATCCCCACATTTTGGGAAGCCAAGGCAGATGGATCAGTAGAGCCCAGGAGTTCGAGAGCAGCCTGGACAACATGGTGAAAACCCCATCTCTACAAAAAATACAAAAAATTAGCAGGCATGGTGGTGGTGCACCTGTAGCCCCAGCTACCAGGGAGGCTGGGGCAGGAGGATCACCTGAGCCTGGGGAGGTCAAGGCCTCAGTGAGCCGTGATTGTACCACTGAACTCCAGCCTGGGCGACAGAGTGAGATCCTGTTTCAAATAAACAAACAAACATACAAAAAACTTTCTATTCTTGCCATGGCCCAGAATAAAGTCTCCTCTCCTCTCTGTGGCTTCCAAAATCCATACCTGTCCCTCCACTCACTACCCCTGAGCCACACCTGCCTTCGTTTGATCTTCAAACAGGGCACACTGTATGCTGCCTCAGGGCCACCGGCCAGGCTGTTCCCTCTCTCTGAAGAGCCC 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Task1_train_27032 | Here is a variant affecting LGI4 (leucine rich repeat LGI family member 4) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Arthrogryposis multiplex congenita 2, neurogenic type | CAATAACATCACCACCCACTCCCATCAACACCATCACCAATATCATCATTACCAAACTCCACACCAACAACACTAATAATCATCACCAACAACACAATCTTCATGATCAACACCAAAAAGATTGCCACCCGCATCTCCAATGCAGCACTATCACACACATCAGCATGAGCGCCACCAACACTGCCAACACTCACATCTCCATTATGCCCAAGATGCACATATTCACCCACCACCAGTACTACCACTGCCGGAGTTTCCATAAATACCAACACCTTCACCATCATCACCAACCCAGTACCAACAACATTGCCATTCATACCAACCCCAACATCCTACCCACAGCCATCACCAACATCAACACCAATACTGTAATGACCCACCCCCACAACATTGATAATTATCACAGACACGAGCCCCAAGAACTTCATCAGTGATTTCATCCATAGCATCATCACCACTGGGGCTACCATTTTTACCAACATCATCCCCACTCCATCATCATCAATAATGCCACCAATCCCATGTCAGCAGCAGCAACAGGGTCATCACCACTGCCATTATCATCAACGCCATGACCCACACCAATGCCAGCATTGTCATGCTGTGACTGCCACCGCTGCCACCATCACCACCACTACCCAATCGTCAGCACCACCCTCAACACCACCACAGTATCACCACCACTACCTAATTCAGAGTTGTTTCCTGGTCATTTGAAACGTTTCTTGTCTCTGACTTCTGTACACCCTTCCTGGGTTTCTATGAGTCAGGGAGAGCCAGAATCAGGCTCTGGTTATCCGGGCCCTTTGTAGATCTTGAAGCAGAGAAGTGAGGTGATAATCAACACTGATAAACATCATTGACACCAGCCCTGAGAACTTCATCAGTATCACCCAAAGCATCATCACCATTGGGTTCGCCATTTTTATCAACACCATCCCACCATGATGTCCAAACACCTGCTCCTCAGGGCCACAGCTCCCATCTCCCCCTACTCTGGGAGCCACAGAAGGGTCCCTCCTTGCCCAGACCCACCTGCCTCCATCCCCTGGCCTCACTCACAGGTACTGCAGGTGGGACAGGCCCGCAAATGCATCGTCCTCAATCACGGAGAAGGAGTTGGAGGTGAAGAGGCTGGCAAGGGGGCAAGAAAGAAATTTTTCCAGAATTGCAGCCCCCATCTGACATTTTAACCCTGGCCTCCACCCTCAGCCTAGGTGGGCATGGGCACGCAGGTGTGAGTATGTGCATGGACACAAATGCTTTTGTACAGACGTGTGCATACACCCCCACACACGTGCATCAATGCCCACCTGACATCTGTGTGAGCATACACTCCCACACATGTGCATAAACGCACACTCCCTTGAGCTGGTTGTCGGCCCAGCCAGGCCCCACTCACAGCAGGTGCAGAGACGGAATTCTCAGGAAGCTGCCGGCCTTCAGCTGGGTGACTCCCGTCCTGACGAGTGAGCTGGGGATGTGGGCAGTGGTAGGTGAGAGGGACACCACAGCAATACTCCAGTTGCAAACCAGAACCTTCTGCCATCCGGGAGACCCCAGCGTGCCACCCTGACCCTGGATGTGTCTCCCCTGCATGCCAGAGGAGGCAGGCATTTGCCCTCCTGGCTTGACAAGGACCCTGACAGCACTCAACCCTCCTCCTGGGCCCCAAATGCTGTCCCTGCCCTCTGGGGTTTCCTTCTGCTCCTTCCCAGATGCCAGCACCCCTCTTCAAGGCATCCCGACAGGCTTTGCTGCCCATCTCCTGAGATCCTGATGGGCCCCTGTTTCCCTGGAGACCCGGCACCACATCCCAACCTCTGGGGTCCCAGGACTTCCGTCCCCACCTTCGGGCATGCAGAAGGCTGGACACTCACAGTGACAGCAGGGTCGGAGAGAAGCTGACGGGCAGGTCCGGGGAGCCCTCACACAGGGCGCTGTCTTTAGAGCAGGAGCAGCGCAGGGGACACTTTCCCTTTGGGGGTCTCCAGGCCACCACCACCCCCGCCCCAGCCAGCAGCAGCAGCAGAATGCCTGCCCCTCCCATGCCCCCACCCCCACTCTGAGGCACCCGCTTCTCCCGGCCCACCCAGCTCAGCCCAGGCCACTACGTCTCCTCCTCCACCAGGCCGCCCTCCATCCGCCTGCTGGCACGCTCGGCCCTGGCTTCTCTCTCCTCTTCTCCGTCTTTCTTTCAGTCGGCCTTCCTCCCTGTTCGTATGTCTTTGGTGTCTAATTTTCTGTTTCTCTTTCTCCCTGTCTTTCTGTCTCTGTATTTTTGACTCTGTGTGTTAGTCTGTTTCTATTTCTGTCTTTGTCTCTCTTTCTGCCTGTTTCTTTTTTTCTGTGTTGCTGTCAGTCTTTCAGGCTTTAGGTAGCTGTCTATCTGTTGGTCTCTATGTGTGTGAGTGTATGTGAGTGTGTGTGTGTCCTGCTGCCTGGTGTCTTGATTTCTTGTCTCCTGCCCCCCCCACCCCCCCTTCCAGCTCCCTGCCTGTAGTTTCTTTGCCTCCTCCCACCTCCCTTCTCCCCGAAGGTTTGGGAAAGGGGTTCGCTGGACACCCGGCACACCCGGCAGAGTAGGATGGGAAGGAGGAGGGGGTCAGAGGCCATGAGAAGGTCGGCCTTGGGGGAAGGGACTGGACAGCCCCACAGGAGGGGGAGGGGCCACCAAGGGCTGGAGCCGCCCCACCACTCCCGCCAGCCCCCTCCCCAGATTCCCCACTCAACCCTATTGGGGGAGCAGGAGGACGATGTCACCAGGGTGGGGACCAGATGGCTCTGCATTCTGGAGCAGGGTGGGAGGAGAGGCCCTGGGGGGGCTGGGGACATCCCGTCCTGGCCACTCTCTGCCAGCCCCCTCCCCTGGCTACAGGAGGGTGTGTTGGGCGCTGTCAGTGGGGCCAGATCACGTCCAGCTGCTCCCTCTGGTGGTCATACTCGGCAGGACCTCTGCCCGGCCCCAAGCCCTTAGCCTCCCTCCCCTACCCTGAAATTAACCCTCTAGTGGCCAACACCCACTGGGGGACAGCACCAACCCGAGGACATGATGATGATGAAGATGATGATGATGGTGAAGATGATGATGATGATGCCACCCCTTCTTCAGCGTCTACTCTGAGCCTGGCCTTGTCCTAAAAGCTCATCTATTAACTCATTCTGATCTTGCCAAAGCCCTCTGAAGTTAGTGCTGTCATCATCACCACTTTACAGCTGGAGGAAGTGGAGACAGAGGTCAGGGAACCTGAACTCTAGGTTACCCAGCTGAGGGCACAGCCGGGATTCAAACCCAGGCATCCGGCTCCAGGTTATTTTGCATTCTTTCTTTGGAGATCAGAGTTCATGGATAGATGGATAATTGGTTGTTTTAATCTGGACTAAATTTTAGTCATTTGGATAGATTCTGTCCACTAAATAAGAAACATAAGTAAATGACACTTGTTAGCTAAGATGAAATAGTAGTAATGTTTATACTCACTCAGCCTTCACAGCCACCCTGTGAGATGGGCAGTACTGCTATCCCTGCTTTACAGATGGGGAAACTGAGGCACAGGGAAGTTATGTGATTAGTTTCCTGGCTCTAGTCAGCTCTAAACCTAACCCCTAGGCTGTACCACCTCATCGCCTGGGGACGAGACTCATCCTGTGATTGAGGAATGCATGCAGCCTCTCTTGACACTGACGCCCACGCCCAGAAGCCTCGTTGGAGGATAAGGGGGCTTAACAGCTTGGAGGTCATGCAGATCTGGGTTCCAGGCCCAGTCCTGTGTGGCCTCAGTTTTCCCATCTGTCAAACGGGGACAATCGTGGCACCCGCTTCCCAGTTGTGGAGAGGACTCAGGTGATGGAGGCAACTCATCCTTTTGGGGTTCAGCACAAGGTGGGCATCCCACAGTGGTCGGCAAGCTTGGGGGTGGGCTCCGGATCCAGCTCCTAGAGGAGCAGACCCCAGCAGCTTGTGGTTTGAGCCATGCCCGTCAGCTCTCAGTTTCCTTCACTGACTATTGGGTATGATAAACAGGGTCCCTGAAAGTGAAGTTGGAGAGCTGAGTGCCAGGGGCACAGAGGGATCTGAACCCACTCTCATAGGGTG 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CAATAACATCACCACCCACTCCCATCAACACCATCACCAATATCATCATTACCAAACTCCACACCAACAACACTAATAATCATCACCAACAACACAATCTTCATGATCAACACCAAAAAGATTGCCACCCGCATCTCCAATGCAGCACTATCACACACATCAGCATGAGCGCCACCAACACTGCCAACACTCACATCTCCATTATGCCCAAGATGCACATATTCACCCACCACCAGTACTACCACTGCCGGAGTTTCCATAAATACCAACACCTTCACCATCATCACCAACCCAGTACCAACAACATTGCCATTCATACCAACCCCAACATCCTACCCACAGCCATCACCAACATCAACACCAATACTGTAATGACCCACCCCCACAACATTGATAATTATCACAGACACGAGCCCCAAGAACTTCATCAGTGATTTCATCCATAGCATCATCACCACTGGGGCTACCATTTTTACCAACATCATCCCCACTCCATCATCATCAATAATGCCACCAATCCCATGTCAGCAGCAGCAACAGGGTCATCACCACTGCCATTATCATCAACGCCATGACCCACACCAATGCCAGCATTGTCATGCTGTGACTGCCACCGCTGCCACCATCACCACCACTACCCAATCGTCAGCACCACCCTCAACACCACCACAGTATCACCACCACTACCTAATTCAGAGTTGTTTCCTGGTCATTTGAAACGTTTCTTGTCTCTGACTTCTGTACACCCTTCCTGGGTTTCTATGAGTCAGGGAGAGCCAGAATCAGGCTCTGGTTATCCGGGCCCTTTGTAGATCTTGAAGCAGAGAAGTGAGGTGATAATCAACACTGATAAACATCATTGACACCAGCCCTGAGAACTTCATCAGTATCACCCAAAGCATCATCACCATTGGGTTCGCCATTTTTATCAACACCATCCCACCATGATGTCCAAACACCTGCTCCTCAGGGCCACAGCTCCCATCTCCCCCTACTCTGGGAGCCACAGAAGGGTCCCTCCTTGCCCAGACCCACCTGCCTCCATCCCCTGGCCTCACTCACAGGTACTGCAGGTGGGACAGGCCCGCAAATGCATCGTCCTCAATCACGGAGAAGGAGTTGGAGGTGAAGAGGCTGGCAAGGGGGCAAGAAAGAAATTTTTCCAGAATTGCAGCCCCCATCTGACATTTTAACCCTGGCCTCCACCCTCAGCCTAGGTGGGCATGGGCACGCAGGTGTGAGTATGTGCATGGACACAAATGCTTTTGTACAGACGTGTGCATACACCCCCACACACGTGCATCAATGCCCACCTGACATCTGTGTGAGCATACACTCCCACACATGTGCATAAACGCACACTCCCTTGAGCTGGTTGTCGGCCCAGCCAGGCCCCACTCACAGCAGGTGCAGAGACGGAATTCTCAGGAAGCTGCCGGCCTTCAGCTGGGTGACTCCCGTCCTGACGAGTGAGCTGGGGATGTGGGCAGTGGTAGGTGAGAGGGACACCACAGCAATACTCCAGTTGCAAACCAGAACCTTCTGCCATCCGGGAGACCCCAGCGTGCCACCCTGACCCTGGATGTGTCTCCCCTGCATGCCAGAGGAGGCAGGCATTTGCCCTCCTGGCTTGACAAGGACCCTGACAGCACTCAACCCTCCTCCTGGGCCCCAAATGCTGTCCCTGCCCTCTGGGGTTTCCTTCTGCTCCTTCCCAGATGCCAGCACCCCTCTTCAAGGCATCCCGACAGGCTTTGCTGCCCATCTCCTGAGATCCTGATGGGCCCCTGTTTCCCTGGAGACCCGGCACCACATCCCAACCTCTGGGGTCCCAGGACTTCCGTCCCCACCTTCGGGCATGCAGAAGGCTGGACACTCACAGTGACAGCAGGGTCGGAGAGAAGCTGACGGGCAGGTCCGGGGAGCCCTCACACAGGGCGCTGTCTTTAGAGCAGGAGCAGCGCAGGGGACACTTTCCCTTTGGGGGTCTCCAGGCCACCACCACCCCCGCCCCAGCCAGCAGCAGCAGCAGAATGCCTGCCCCTCCCGTGCCCCCACCCCCACTCTGAGGCACCCGCTTCTCCCGGCCCACCCAGCTCAGCCCAGGCCACTACGTCTCCTCCTCCACCAGGCCGCCCTCCATCCGCCTGCTGGCACGCTCGGCCCTGGCTTCTCTCTCCTCTTCTCCGTCTTTCTTTCAGTCGGCCTTCCTCCCTGTTCGTATGTCTTTGGTGTCTAATTTTCTGTTTCTCTTTCTCCCTGTCTTTCTGTCTCTGTATTTTTGACTCTGTGTGTTAGTCTGTTTCTATTTCTGTCTTTGTCTCTCTTTCTGCCTGTTTCTTTTTTTCTGTGTTGCTGTCAGTCTTTCAGGCTTTAGGTAGCTGTCTATCTGTTGGTCTCTATGTGTGTGAGTGTATGTGAGTGTGTGTGTGTCCTGCTGCCTGGTGTCTTGATTTCTTGTCTCCTGCCCCCCCCACCCCCCCTTCCAGCTCCCTGCCTGTAGTTTCTTTGCCTCCTCCCACCTCCCTTCTCCCCGAAGGTTTGGGAAAGGGGTTCGCTGGACACCCGGCACACCCGGCAGAGTAGGATGGGAAGGAGGAGGGGGTCAGAGGCCATGAGAAGGTCGGCCTTGGGGGAAGGGACTGGACAGCCCCACAGGAGGGGGAGGGGCCACCAAGGGCTGGAGCCGCCCCACCACTCCCGCCAGCCCCCTCCCCAGATTCCCCACTCAACCCTATTGGGGGAGCAGGAGGACGATGTCACCAGGGTGGGGACCAGATGGCTCTGCATTCTGGAGCAGGGTGGGAGGAGAGGCCCTGGGGGGGCTGGGGACATCCCGTCCTGGCCACTCTCTGCCAGCCCCCTCCCCTGGCTACAGGAGGGTGTGTTGGGCGCTGTCAGTGGGGCCAGATCACGTCCAGCTGCTCCCTCTGGTGGTCATACTCGGCAGGACCTCTGCCCGGCCCCAAGCCCTTAGCCTCCCTCCCCTACCCTGAAATTAACCCTCTAGTGGCCAACACCCACTGGGGGACAGCACCAACCCGAGGACATGATGATGATGAAGATGATGATGATGGTGAAGATGATGATGATGATGCCACCCCTTCTTCAGCGTCTACTCTGAGCCTGGCCTTGTCCTAAAAGCTCATCTATTAACTCATTCTGATCTTGCCAAAGCCCTCTGAAGTTAGTGCTGTCATCATCACCACTTTACAGCTGGAGGAAGTGGAGACAGAGGTCAGGGAACCTGAACTCTAGGTTACCCAGCTGAGGGCACAGCCGGGATTCAAACCCAGGCATCCGGCTCCAGGTTATTTTGCATTCTTTCTTTGGAGATCAGAGTTCATGGATAGATGGATAATTGGTTGTTTTAATCTGGACTAAATTTTAGTCATTTGGATAGATTCTGTCCACTAAATAAGAAACATAAGTAAATGACACTTGTTAGCTAAGATGAAATAGTAGTAATGTTTATACTCACTCAGCCTTCACAGCCACCCTGTGAGATGGGCAGTACTGCTATCCCTGCTTTACAGATGGGGAAACTGAGGCACAGGGAAGTTATGTGATTAGTTTCCTGGCTCTAGTCAGCTCTAAACCTAACCCCTAGGCTGTACCACCTCATCGCCTGGGGACGAGACTCATCCTGTGATTGAGGAATGCATGCAGCCTCTCTTGACACTGACGCCCACGCCCAGAAGCCTCGTTGGAGGATAAGGGGGCTTAACAGCTTGGAGGTCATGCAGATCTGGGTTCCAGGCCCAGTCCTGTGTGGCCTCAGTTTTCCCATCTGTCAAACGGGGACAATCGTGGCACCCGCTTCCCAGTTGTGGAGAGGACTCAGGTGATGGAGGCAACTCATCCTTTTGGGGTTCAGCACAAGGTGGGCATCCCACAGTGGTCGGCAAGCTTGGGGGTGGGCTCCGGATCCAGCTCCTAGAGGAGCAGACCCCAGCAGCTTGTGGTTTGAGCCATGCCCGTCAGCTCTCAGTTTCCTTCACTGACTATTGGGTATGATAAACAGGGTCCCTGAAAGTGAAGTTGGAGAGCTGAGTGCCAGGGGCACAGAGGGATCTGAACCCACTCTCATAGGGTG 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Task1_train_27033 | Given a variant located on Chromosome 19 and affecting HAMP (hepcidin antimicrobial peptide), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Hemochromatosis type 2B | TCTCTACTAAAAATACAAAAGTTAGCCAGGCTTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCCGCAAGGTGGAGGTTGCACAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCCATCTCCAAAAAAGAACAGAAATCAATGAAGCACCGAGTGACAGGGACTGGAAGGTCCTAATTCCATGGGTATTTACGGAACCCCTACGCCGTGTGGAGTCTTATTCTAGACAGTGGGGACGAGGCCATGAACAAGGTAGATGAGAGAGGAGATTTCTCCATCCTGGTCAGGGAATTTGTTAAAGACTGATGAAAACATGAATAAATAATTGTGTCTAGTACATTCTATTCGTGAATCTCATAACAGACAGTGGTAGAGTGACCGTGACCCATTCGCCACACAGTAGAGTCACTTTTTTGGTTTGTTTTTTAGAGACAGGGTCTTCCTCTGTTGCTGAGGCTGGAGTGCAGTGGTGCAGTCATAGTTCACTGCAGCCTCAACCTCCTGTGCTCAAGCAATCCTCCCACCTCAGCGTCCCAAGTAGCTGGGACAGCAGGCACATGCCACGGGTTGGGGGACCACAGGCATGGTCAAGGGGCTGGCAGTCAAGCAAGTGTTTCATGAGAAAGTGACAGTTGACCTTCGTCTTGGAGGGTGAGAGATGGAGGCAGCAAAGACCTAAGGAGAGGACAAGCCAGCATAGCCCAGGGTCAGGCTGAACAAGAGGAGATGGTGGGACTTGGGGATAAGGCTGAGGGGTGGGCAGTCCCTAAGTCTTGTGGGCAACCATGCAGACACTGATTTTTCCTTGGAATAAAGAGGAAGCCCCCATAAGCTTTTTTTTTTTTTTCTGAGATAGGGTCTCGCTCTGTCGTTCAGGCTGGTGTGCAGTGGCATCATCTGGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCCGAGCAGCTGGGATTACAGGCGGCTGCCACCACGCCCGGCTAATTTTTGTTTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACTGGTCTTGAACTCCTGACCTCAGGTGATTCTCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCTCCTGTAGGTTTTTAAAATGGAGAAAACCACAATCTCACTGGCCATGTTTTAAAAAACTTAATCTGCCAGTCAGGCACCATGGCTCACACCTGTAATCCCAGAGTTTTGGGAGGCCAAGGTAGGAAGATCAGTTGAGCCCAGGAGTTCAAGACCAGCTTGGGCAACACAACCAGACCCCACCTCTACAAAAAATTAAAAAATTAGCCGGGTGTGGTGGCGTGCACCTGCTGTCCCAGCTACTCGGGAAGCTGAGGCGGGAGCATCGCTTGAGCACAGGAGGTCAAGGCTGCAGGGAGCTATGACTGTGCCACTGCACTCTGGCCTGGGCAACAGAGGAAGACTCTGTCTAAAAAACAAACAAAAAAAGTGACTCTGCTGTGTGGCAAATGGATTGAGGGGCAAGAATGCAGGGAGGTGTGTTAGGAGGCTGGCACTGGCATCCAGGCAGGGGAAGGTGATATCCCAAAGAAGAGTAGCAGCTGTGGAAAGAGGAGGAGGCGGATCTGGGAGGTTTTTTTTTTTAGGAAAAGCCGCCCATGGGAAGGTGAGCAGAAGCAAGAAAGCAAGGCCCCTCCTAAGAGTCCATTTGAGCTCTGGGTTTAAACCACTTGGAGAGGAGCAGGTTGCCGGGAGCCAGTCTCAGAGGTCCACTGGGCCCCCTGCCATCCTCTGCACCCCCTTCTGCTTTCACAGACGGGACAACTTGCAGAGCTGCAACCCCAGGACAGAGCTGGAGCCAGGGCCAGCTGGATGGTGAGCGCAACAGTGATGCCTTTCCTAGCCCCCTGCTCCCTCCCCATGCTAAGGCCGGTTCCCTGCTCACATTCCCTTCCTTCCCACAGCCCATGTTCCAGAGGCGAAGGAGGCGAGACACCCACTTCCCCATCTGCATTTTCTGCTGCGGCTGCTGTCATCGATCAAAGTGTGGGATGTGCTGCAAGACGTAGAACCTACCTGCCCTGCCCCCGTCCCCTCCCTTCCTTATTTATTCCTGCTGCCCCAGAACATAGGTCTTGGAATAAAATGGCTGGTTCTTTTGTTTTCCAAACCAGAGTGTCTGTTGTCCTTTCTCTCTGCCGAGTGTCTGTGCTAAGAGCTTGTCCTGACCCTGCCTTGCAAGCACCAGTGCTTGGTGGGTCATGTGGGGCTGGTGTGTCCTGGAGGTTGCCAGGAAAGTTGGTGAAGAAAATTTGTTTCTGTTCTCCCCCTTCATGTTGCAATAATAGGGGATGAAAGTTAATGTTTCCTCTCCTTGAGATCTTCCTAAAACAGCTGTAGAAATCAGTGCCTGTAAGGCAAGCTTGTCCAACCTGGAGGCCACATGCAGCCCTGGATGGCTTTGAATGCACCCAACACAAATTTGTAGTTTCTTAAGGCATTATGAGATTTTTCCGCAATTTTTTTTTTTCTCATCAGCTGTCATTAGTGTTAGTGTGTTTTATGTGTGGCCCAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCCAAAACATTGGACACTGCTATAAAGGTTCTCAAAGTAAGATCCAGGGACTCCTTTTGTAGGGCTCCTGAAGGTGGAAACTACTAAGACTTTTTTTTTCCTTTTTTTTTCCTTTTTTTTCTTTCTTTTTTTTTTTTTTTTGAGGCAGAGTCTCTCTGTGTCACCCAGGCTGGAGGGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCCCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGCACGTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTTGCCATGTTGTCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGTCTCAGTCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCACGCCCGGCCTACAAAGATGTTTATTTGCCTTTTTCACCCTGGTTCTCTCATGAGTATACAATGGAGTTTCCAGGAGGCTCTGCGACACCTGTTGGCATCATCACCAGATGGCTAATGGATTGTGTGCTGGTGTATCTCACGCTTTTAAATGTCCCAGTTTCTAGCCCGGTGCAGTTGCACCATCCCTGCTACTCGGGAGGCTGAGGCAGGAGGATAATTTAAGACTGGGAGTTCCAGAAGAAGACCTGGTGTCAAAAAAAAAAAAAATGGGGCAACGAAAATGAGAGCAATACAGCTTTCAAGAATGGGAGGGGCCAGGGGTGGTGATTCATGCCTACAGCACTTTGGGTGGCTGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACACCGTCTCTACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCTAGTCAGGAGGCTGAGTCAGGAGAATCACTTGAACCCTGGAGGTGGAGGTTACAGTGAGCCAAGACAACACTGCTGCACTCCAGCCTGGGCGACGGAGTGAGACCCTGTCTCCAGAAAAAAAAAAAAAGAAGAATGGGCAGGAACTCAGTTCCTTGTGGAGGTGAACTATATTCCTATATGTTTCACGTGCAAAGTGTGTCCTTCCTGAGAGAATACAACTTAAGATGCTCCTGTGTAACAATCCCCCATACCTCGCTCATCTGCTATACCTGGATGGCCTCTGAAGGCCATGGGCCTCACACCTTTTGGTCTTAGGACCCCTTTACATTCTGAGAAATTATTGAGGACTCCAAAAAGCTCTTGATAAAGTGGGCTATATCTCTAGTTGCCTGATGTATTAGAAACTGAAACTGGGAAAATATTTTTACTGTTTATTTATTTATTTTTGAGACAGGGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAACTCCACCTCCCAGTTTCAAGCGGTTCTCCTGCCTTGGCCTC 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TCTCTACTAAAAATACAAAAGTTAGCCAGGCTTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCCGCAAGGTGGAGGTTGCACAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCCATCTCCAAAAAAGAACAGAAATCAATGAAGCACCGAGTGACAGGGACTGGAAGGTCCTAATTCCATGGGTATTTACGGAACCCCTACGCCGTGTGGAGTCTTATTCTAGACAGTGGGGACGAGGCCATGAACAAGGTAGATGAGAGAGGAGATTTCTCCATCCTGGTCAGGGAATTTGTTAAAGACTGATGAAAACATGAATAAATAATTGTGTCTAGTACATTCTATTCGTGAATCTCATAACAGACAGTGGTAGAGTGACCGTGACCCATTCGCCACACAGTAGAGTCACTTTTTTGGTTTGTTTTTTAGAGACAGGGTCTTCCTCTGTTGCTGAGGCTGGAGTGCAGTGGTGCAGTCATAGTTCACTGCAGCCTCAACCTCCTGTGCTCAAGCAATCCTCCCACCTCAGCGTCCCAAGTAGCTGGGACAGCAGGCACATGCCACGGGTTGGGGGACCACAGGCATGGTCAAGGGGCTGGCAGTCAAGCAAGTGTTTCATGAGAAAGTGACAGTTGACCTTCGTCTTGGAGGGTGAGAGATGGAGGCAGCAAAGACCTAAGGAGAGGACAAGCCAGCATAGCCCAGGGTCAGGCTGAACAAGAGGAGATGGTGGGACTTGGGGATAAGGCTGAGGGGTGGGCAGTCCCTAAGTCTTGTGGGCAACCATGCAGACACTGATTTTTCCTTGGAATAAAGAGGAAGCCCCCATAAGCTTTTTTTTTTTTTTCTGAGATAGGGTCTCGCTCTGTCGTTCAGGCTGGTGTGCAGTGGCATCATCTGGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCCGAGCAGCTGGGATTACAGGCGGCTGCCACCACGCCCGGCTAATTTTTGTTTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACTGGTCTTGAACTCCTGACCTCAGGTGATTCTCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCTCCTGTAGGTTTTTAAAATGGAGAAAACCACAATCTCACTGGCCATGTTTTAAAAAACTTAATCTGCCAGTCAGGCACCATGGCTCACACCTGTAATCCCAGAGTTTTGGGAGGCCAAGGTAGGAAGATCAGTTGAGCCCAGGAGTTCAAGACCAGCTTGGGCAACACAACCAGACCCCACCTCTACAAAAAATTAAAAAATTAGCCGGGTGTGGTGGCGTGCACCTGCTGTCCCAGCTACTCGGGAAGCTGAGGCGGGAGCATCGCTTGAGCACAGGAGGTCAAGGCTGCAGGGAGCTATGACTGTGCCACTGCACTCTGGCCTGGGCAACAGAGGAAGACTCTGTCTAAAAAACAAACAAAAAAAGTGACTCTGCTGTGTGGCAAATGGATTGAGGGGCAAGAATGCAGGGAGGTGTGTTAGGAGGCTGGCACTGGCATCCAGGCAGGGGAAGGTGATATCCCAAAGAAGAGTAGCAGCTGTGGAAAGAGGAGGAGGCGGATCTGGGAGGTTTTTTTTTTTAGGAAAAGCCGCCCATGGGAAGGTGAGCAGAAGCAAGAAAGCAAGGCCCCTCCTAAGAGTCCATTTGAGCTCTGGGTTTAAACCACTTGGAGAGGAGCAGGTTGCCGGGAGCCAGTCTCAGAGGTCCACTGGGCCCCCTGCCATCCTCTGCACCCCCTTCTGCTTTCACAGACGGGACAACTTGCAGAGCTGCAACCCCAGGACAGAGCTGGAGCCAGGGCCAGCTGGATGGTGAGCGCAACAGTGATGCCTTTCCTAGCCCCCTGCTCCCTCCCCATGCTAAGGCCGGTTCCCTGCTCACATTCCCTTCCTTCCCACAGCCCATGTTCCAGAGGCGAAGGAGGCCAGACACCCACTTCCCCATCTGCATTTTCTGCTGCGGCTGCTGTCATCGATCAAAGTGTGGGATGTGCTGCAAGACGTAGAACCTACCTGCCCTGCCCCCGTCCCCTCCCTTCCTTATTTATTCCTGCTGCCCCAGAACATAGGTCTTGGAATAAAATGGCTGGTTCTTTTGTTTTCCAAACCAGAGTGTCTGTTGTCCTTTCTCTCTGCCGAGTGTCTGTGCTAAGAGCTTGTCCTGACCCTGCCTTGCAAGCACCAGTGCTTGGTGGGTCATGTGGGGCTGGTGTGTCCTGGAGGTTGCCAGGAAAGTTGGTGAAGAAAATTTGTTTCTGTTCTCCCCCTTCATGTTGCAATAATAGGGGATGAAAGTTAATGTTTCCTCTCCTTGAGATCTTCCTAAAACAGCTGTAGAAATCAGTGCCTGTAAGGCAAGCTTGTCCAACCTGGAGGCCACATGCAGCCCTGGATGGCTTTGAATGCACCCAACACAAATTTGTAGTTTCTTAAGGCATTATGAGATTTTTCCGCAATTTTTTTTTTTCTCATCAGCTGTCATTAGTGTTAGTGTGTTTTATGTGTGGCCCAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCCAAAACATTGGACACTGCTATAAAGGTTCTCAAAGTAAGATCCAGGGACTCCTTTTGTAGGGCTCCTGAAGGTGGAAACTACTAAGACTTTTTTTTTCCTTTTTTTTTCCTTTTTTTTCTTTCTTTTTTTTTTTTTTTTGAGGCAGAGTCTCTCTGTGTCACCCAGGCTGGAGGGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCCCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGCACGTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTTGCCATGTTGTCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGTCTCAGTCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCACGCCCGGCCTACAAAGATGTTTATTTGCCTTTTTCACCCTGGTTCTCTCATGAGTATACAATGGAGTTTCCAGGAGGCTCTGCGACACCTGTTGGCATCATCACCAGATGGCTAATGGATTGTGTGCTGGTGTATCTCACGCTTTTAAATGTCCCAGTTTCTAGCCCGGTGCAGTTGCACCATCCCTGCTACTCGGGAGGCTGAGGCAGGAGGATAATTTAAGACTGGGAGTTCCAGAAGAAGACCTGGTGTCAAAAAAAAAAAAAATGGGGCAACGAAAATGAGAGCAATACAGCTTTCAAGAATGGGAGGGGCCAGGGGTGGTGATTCATGCCTACAGCACTTTGGGTGGCTGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACACCGTCTCTACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCTAGTCAGGAGGCTGAGTCAGGAGAATCACTTGAACCCTGGAGGTGGAGGTTACAGTGAGCCAAGACAACACTGCTGCACTCCAGCCTGGGCGACGGAGTGAGACCCTGTCTCCAGAAAAAAAAAAAAAGAAGAATGGGCAGGAACTCAGTTCCTTGTGGAGGTGAACTATATTCCTATATGTTTCACGTGCAAAGTGTGTCCTTCCTGAGAGAATACAACTTAAGATGCTCCTGTGTAACAATCCCCCATACCTCGCTCATCTGCTATACCTGGATGGCCTCTGAAGGCCATGGGCCTCACACCTTTTGGTCTTAGGACCCCTTTACATTCTGAGAAATTATTGAGGACTCCAAAAAGCTCTTGATAAAGTGGGCTATATCTCTAGTTGCCTGATGTATTAGAAACTGAAACTGGGAAAATATTTTTACTGTTTATTTATTTATTTTTGAGACAGGGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAACTCCACCTCCCAGTTTCAAGCGGTTCTCCTGCCTTGGCCTC 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Task1_train_27034 | The gene MAG (myelin associated glycoprotein), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hereditary spastic paraplegia 75 | TCCCTGCCCGCCACCCCCAGGCCCCGGCCGTGGGACATCTGCTCCCTCACTCCACTCGCCACACCCCTCAGTCTCACCCCCGTACCCCGATGCGGTCGTTCCCCCTTCCCTCCCCACAGTTCTCTGACACCCCAGCTTGGAGGGAGTTGTTGCCAGAGAGTGGCTTCGAGGCTGTGTGGGAGGGTCCCAGGCACAATGGGAGGGCCACATGGGCAGCCTGACAACAGGTCACAACCCATGCAGGAGATACTGAAGCGGGGGTGGGTTGGGTGCCTCAATCCCGCCCCCTTGCACCTGAGTGACTCTTGTTGCATGCAGGTTGTCTGGCGGCTTCAGGTGGACCCAGAAGACGTCCCCAACTCAGGGAGATTCAGGTGAGGGGCAGGGTACCAACTCTCTTCCCTTGCTTCAGCTTTGCAATGCTGGCCCTGCCTTGGCTCTCTGGTTCTTACTTTCTGGAGATCTCCAGGGGCATCACGGTGACAAAGATAATGATCAGCACATCATCACTGCATAGAGACAGGACATGCAGCAAAGACTGCAGACCAACTGTGTGGCCTTGGGCGAGTCACTTAACCTCTCTGGACCTCAGCTATAAAATGAGGATAATGCATCTTCCTCAAAGAGATCCAATGAGTTAAGACAGCAGAATAAGCAGTGAGGGCTGGCACATGGCCAATGCCATAGAAGGGTTTATAATTATAAGTAATAGCAGCAGGCTGGGTGAGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCAAGGAGTTCAAGACCAGTCTGGGCAACACAGAACATGGCAAGACTCCCATCTCTAAAAAAAATAATAATAATAACCAAATAAATAAACTAAAATAAAATTAGCCAGGCATGGTGGTGTGTACCTGAGGTCCCAGTTACTCTGAAGGATCGCTTAAGCCTGGCAGATTGAAGCTGCAGTTGAGTGAGCCACGATTGCACCACTGCATTCCAGGCTGGGTGACAGGGCTGAGACCCCATCTCAAAAAGTAAAAAGTTAAAAAATATCAGCAGACCAGGCATGGTGATTTACACCTGTAATCCTTTGGGAAGCCAAGGCAGGAATATTGCTGGAGGCCAGGAGTTGAAGACCAGCCTGGGCAACATAGTAAGACCCCACCTCCACAACCATTTCCACAAAAAAGAAGAAAAATTAACTGGGTGTGGGGTGGCGCATACCAGAAGCTGAGACAAGAGGATAACACGAGCTCAGGATTTTGAGGCTATAGTGAGCTGTTATTGTGTCACTGCATTCCAGCCCGGGCAATGAAACAAGACCCTGTCTCAGAAAAATAAGTAAATAAATGCATAAATAAATAATAATAGCAGCAGCAGCTAACATATGAATGGGCCCCTTCCTGAAGCCCAGATGGAACACCCCCTTTCACTTCCCCCAGCCTTTAACCCTCTCCTCTCCCTTTCCAGCGATCACTCACTCGCTGTACAGAATGATATTCCTCACGGCACTGCCTCTGTTCTGGATTATGATTTCAGGTAACGGCTGACAGGTGCTGGGGACCTAAAGGCTTTGGCCCCTGAGCAGGTTGGAGGTGGGTCCCCGCAGCCCCCCGGCATGTGGTTGGGGATGGGAGCCGGAGGGGGTGATCGGGTAGGACGTGTCCCTGAGCCTCAGCTCTCCTGCTTGCCCGCAGCCTCCCGAGGGGGTCACTGGGGTGCCTGGATGCCCTCGTCCATCTCGGCCTTCGAAGGCACGTGCGTCTCCATCCCCTGCCGCTTTGACTTCCCGGATGAGCTGCGGCCCGCTGTGGTGCATGGTGTCTGGTACTTCAATAGCCCCTACCCCAAGAACTACCCCCCGGTGGTCTTCAAGTCGCGCACCCAAGTAGTCCACGAGAGCTTCCAGGGCCGCAGCCGCCTCCTGGGGGACCTGGGCCTGCGAAACTGCACCCTCCTGCTCAGCAACGTCAGCCCCGAGCTGGGCGGGAAGTACTACTTCCGTGGGGACCTGGGCGGCTACAACCAGTACACCTTCTCAGAGCACAGCGTCCTGGATATCGTCAGTGAGTCCCCAGCGGTTGTGCAGGCACCGGGAGCTGGGGCAGCGGGGCGGGAAGGAGTGTGGCCGGAAGGCCTCCCCGCACCTTCCCCAGCAGGCCTGGATGGCAGATCTGGGAGGTGCTGATTTGGCTGGGGGTGCAAACCTCAAGGCCCACGCAGACCATGCAGATGACAGACATGAACAAAGCAGGGCCCCAAAATAGTCTTGCTGCCCTCAGGGGGAAACAGGTGCTGCTACTCTTTTGGAAACACCTGGAGAAAGGCAGTGGGGCCAGGGGGTAGGGGCAAGGCTGCTGGGCCCCCACTTTAGCGTGGTGATCTTGGGCAAGTGACTTAACTTCCTTGGGCCTTGGTTTTCTTTTCCGTAAAATGGGGATAAGAACAGCACTTAAGGCAATGAGTGAAAAGCCATCAGATGCCCAGAGCAGCACCTGGCACGTGGCCCCCAGCTCTGGCCAACAGAAAGCAGGGCGGTGGCTGTCAGGTGTTCTGAATTTTCAAGATAAACCAGAATTTTGGATTCTTTGGTGTAATCTCCTAATTCTTAAATTTTGGTTGCTGATTCAGATTTCTTTTTTTAAAATCCTTTAAGCCAAATAGAATACAGCTATGGCCAGACATGGCAATCAGAATAGGGCACACTGCCTGATTTCAGGGATCCCCCTGCCTCATTTCTGAGTGGCGCTGCTGCTTGGAGTCCTCAGCGCTGAGTCCCTATGAGAGAGCCGGGTTCACCCTGGTGCAGAAAGAGACTGCACAGGTGCAGTACACACACACACCACTCTACAGAAATCACACACTACACACTGCACACTCTACCTACACACTACCCACACACCACACACTACACATACATCACACACTACACAAACCACACACCACACACTGCTCCTGCTACCTACACACTGCCCACACACCAAACATACACATCACACCAAACACACCACACACACACACTACACAAACCACACACCACACACTGCATACACTACACACACACACACTGCTTGGCGCTGAGGACTCCAAGCAGCAGCGCCACTCAGAAATGAGGCAGGGGGATCCCTGAAATCAGGCAGTGTGCCCTATTCTGATTGCCATGTCTGGCCATAGCTGTATTCTATTTGGCTTAAAGGATTTTAAAACCACACACCACACACACACCACACCAAACACACACCACACACACACACCACATTACAAAAACTCACCACACACTACACACACACCACACACACCACACCAAGCACACACCACACACATCACACACTACACAAACCACACACCACACACTTCATACACTACACACACTACCCACACACCACACACACACCACACCAAACACACACACCACACACACACCACACTACAAAAACCACACACCACACACTGCATACGCTACACACACACTACACACACACCACACAAACACCACACCAAACACACACCACACATCCACCACGCTACAAAAACTACACACCACACACTGCACATGCCACACACACACTACCCACACACCACACCAAACACACACCACACACACCACACACACCACACACTACATAAACCACACATCACACACTGCACATACTACCCACGTACCACACACACACCACACACCTCATAAACTACACACCACACACTGCACACACTACCCACACACCACACACACTACACACACTACACACACCACACACATACACCACACACTGCACATGCTACCCACACACCAAACACACACTACACACTACACACTGCACAAACCACACACACACTACACCCTATATACACTGTACACATACATGCGCCACCCCCACATCACAACACAAACCACACACCCCACACACAACAAACATGCACAACACACGCTACACAAACCACACACCACACACACAACACACCAAACACACACCACACACACATACCACACTACAAAAACCACACATCACACACTGCACATGCTACACACACACACCACACCAAACACACACCACACACTACACAAACCACACACCACACACTGCACATACTACCCA 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TCCCTGCCCGCCACCCCCAGGCCCCGGCCGTGGGACATCTGCTCCCTCACTCCACTCGCCACACCCCTCAGTCTCACCCCCGTACCCCGATGCGGTCGTTCCCCCTTCCCTCCCCACAGTTCTCTGACACCCCAGCTTGGAGGGAGTTGTTGCCAGAGAGTGGCTTCGAGGCTGTGTGGGAGGGTCCCAGGCACAATGGGAGGGCCACATGGGCAGCCTGACAACAGGTCACAACCCATGCAGGAGATACTGAAGCGGGGGTGGGTTGGGTGCCTCAATCCCGCCCCCTTGCACCTGAGTGACTCTTGTTGCATGCAGGTTGTCTGGCGGCTTCAGGTGGACCCAGAAGACGTCCCCAACTCAGGGAGATTCAGGTGAGGGGCAGGGTACCAACTCTCTTCCCTTGCTTCAGCTTTGCAATGCTGGCCCTGCCTTGGCTCTCTGGTTCTTACTTTCTGGAGATCTCCAGGGGCATCACGGTGACAAAGATAATGATCAGCACATCATCACTGCATAGAGACAGGACATGCAGCAAAGACTGCAGACCAACTGTGTGGCCTTGGGCGAGTCACTTAACCTCTCTGGACCTCAGCTATAAAATGAGGATAATGCATCTTCCTCAAAGAGATCCAATGAGTTAAGACAGCAGAATAAGCAGTGAGGGCTGGCACATGGCCAATGCCATAGAAGGGTTTATAATTATAAGTAATAGCAGCAGGCTGGGTGAGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCAAGGAGTTCAAGACCAGTCTGGGCAACACAGAACATGGCAAGACTCCCATCTCTAAAAAAAATAATAATAATAACCAAATAAATAAACTAAAATAAAATTAGCCAGGCATGGTGGTGTGTACCTGAGGTCCCAGTTACTCTGAAGGATCGCTTAAGCCTGGCAGATTGAAGCTGCAGTTGAGTGAGCCACGATTGCACCACTGCATTCCAGGCTGGGTGACAGGGCTGAGACCCCATCTCAAAAAGTAAAAAGTTAAAAAATATCAGCAGACCAGGCATGGTGATTTACACCTGTAATCCTTTGGGAAGCCAAGGCAGGAATATTGCTGGAGGCCAGGAGTTGAAGACCAGCCTGGGCAACATAGTAAGACCCCACCTCCACAACCATTTCCACAAAAAAGAAGAAAAATTAACTGGGTGTGGGGTGGCGCATACCAGAAGCTGAGACAAGAGGATAACACGAGCTCAGGATTTTGAGGCTATAGTGAGCTGTTATTGTGTCACTGCATTCCAGCCCGGGCAATGAAACAAGACCCTGTCTCAGAAAAATAAGTAAATAAATGCATAAATAAATAATAATAGCAGCAGCAGCTAACATATGAATGGGCCCCTTCCTGAAGCCCAGATGGAACACCCCCTTTCACTTCCCCCAGCCTTTAACCCTCTCCTCTCCCTTTCCAGCGATCACTCACTCGCTGTACAGAATGATATTCCTCACGGCACTGCCTCTGTTCTGGATTATGATTTCAGGTAACGGCTGACAGGTGCTGGGGACCTAAAGGCTTTGGCCCCTGAGCAGGTTGGAGGTGGGTCCCCGCAGCCCCCCGGCATGTGGTTGGGGATGGGAGCCGGAGGGGGTGATCGGGTAGGACGTGTCCCTGAGCCTCAGCTCTCCTGCTTGCCCGCAGCCTCCCGAGGGGGTCACTGGGGTGCCTGGATGCCCTCGTCCATCTCGGCCTTCGAAGGCACGTGCGTCTCCATCCCCTGCCGCTTTGACTTCCCGGATGAGCTGCGGCCCGCTGTGGTGCATGGTGTCTGGTACTTCAATAGCCCCTACCCCAAGAACTACCCCCCGGTGGTCTTCAAGTCGCGCACCCAAGTAGTCCACGAGAGCTTCCAGGGCCGCAGCCGCCTCCTGGGGGACCTGGGCCTGCGAAACTGCACCCTCCTGCTCAGCAACGTCAGCCCCGAGCTGGGCGGGAAGTACTACTTCCGTGGGGACCTGGGCGGCTACAACCAGTACACCTTCTCAGAGCACAGGGTCCTGGATATCGTCAGTGAGTCCCCAGCGGTTGTGCAGGCACCGGGAGCTGGGGCAGCGGGGCGGGAAGGAGTGTGGCCGGAAGGCCTCCCCGCACCTTCCCCAGCAGGCCTGGATGGCAGATCTGGGAGGTGCTGATTTGGCTGGGGGTGCAAACCTCAAGGCCCACGCAGACCATGCAGATGACAGACATGAACAAAGCAGGGCCCCAAAATAGTCTTGCTGCCCTCAGGGGGAAACAGGTGCTGCTACTCTTTTGGAAACACCTGGAGAAAGGCAGTGGGGCCAGGGGGTAGGGGCAAGGCTGCTGGGCCCCCACTTTAGCGTGGTGATCTTGGGCAAGTGACTTAACTTCCTTGGGCCTTGGTTTTCTTTTCCGTAAAATGGGGATAAGAACAGCACTTAAGGCAATGAGTGAAAAGCCATCAGATGCCCAGAGCAGCACCTGGCACGTGGCCCCCAGCTCTGGCCAACAGAAAGCAGGGCGGTGGCTGTCAGGTGTTCTGAATTTTCAAGATAAACCAGAATTTTGGATTCTTTGGTGTAATCTCCTAATTCTTAAATTTTGGTTGCTGATTCAGATTTCTTTTTTTAAAATCCTTTAAGCCAAATAGAATACAGCTATGGCCAGACATGGCAATCAGAATAGGGCACACTGCCTGATTTCAGGGATCCCCCTGCCTCATTTCTGAGTGGCGCTGCTGCTTGGAGTCCTCAGCGCTGAGTCCCTATGAGAGAGCCGGGTTCACCCTGGTGCAGAAAGAGACTGCACAGGTGCAGTACACACACACACCACTCTACAGAAATCACACACTACACACTGCACACTCTACCTACACACTACCCACACACCACACACTACACATACATCACACACTACACAAACCACACACCACACACTGCTCCTGCTACCTACACACTGCCCACACACCAAACATACACATCACACCAAACACACCACACACACACACTACACAAACCACACACCACACACTGCATACACTACACACACACACACTGCTTGGCGCTGAGGACTCCAAGCAGCAGCGCCACTCAGAAATGAGGCAGGGGGATCCCTGAAATCAGGCAGTGTGCCCTATTCTGATTGCCATGTCTGGCCATAGCTGTATTCTATTTGGCTTAAAGGATTTTAAAACCACACACCACACACACACCACACCAAACACACACCACACACACACACCACATTACAAAAACTCACCACACACTACACACACACCACACACACCACACCAAGCACACACCACACACATCACACACTACACAAACCACACACCACACACTTCATACACTACACACACTACCCACACACCACACACACACCACACCAAACACACACACCACACACACACCACACTACAAAAACCACACACCACACACTGCATACGCTACACACACACTACACACACACCACACAAACACCACACCAAACACACACCACACATCCACCACGCTACAAAAACTACACACCACACACTGCACATGCCACACACACACTACCCACACACCACACCAAACACACACCACACACACCACACACACCACACACTACATAAACCACACATCACACACTGCACATACTACCCACGTACCACACACACACCACACACCTCATAAACTACACACCACACACTGCACACACTACCCACACACCACACACACTACACACACTACACACACCACACACATACACCACACACTGCACATGCTACCCACACACCAAACACACACTACACACTACACACTGCACAAACCACACACACACTACACCCTATATACACTGTACACATACATGCGCCACCCCCACATCACAACACAAACCACACACCCCACACACAACAAACATGCACAACACACGCTACACAAACCACACACCACACACACAACACACCAAACACACACCACACACACATACCACACTACAAAAACCACACATCACACACTGCACATGCTACACACACACACCACACCAAACACACACCACACACTACACAAACCACACACCACACACTGCACATACTACCCA 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Task1_train_27035 | This alteration in MAG (myelin associated glycoprotein) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hereditary spastic paraplegia 75 | GCTTTAGGGGAGGAAGTGGGGGGCATCTGCAGCGCAGACTGAAAGGAAGGAGCACAGCCTGGAAGCCAGAAAGGAGGGGATAGTCTAAGCCTGTGTGAGCCCCAAGGGTCTGGGGAGGCCGGGGGCTGGGAGAGTTCCATGGTTCCTCCCTTCTACGTGTGGGGCCCAGAGTGGAGAAGGAGCAAGCCCCTGTCTTGATGGAAACAGGAGGCCCCTTATGTAAGTGTGTGATGCAGGGAGGGTGAGTGCTGGGGAGGAGAACTGAGTGAGGCAGGGAGTGAATGATACGTGGAGCGAGGTGCAGCTTCCCTGGGTGGTCAGAGAAGGAGACGCCGCATGGGTAGAGGCCAGTTTGGAGCGAGGGAGGGCGTTCCACAGGCAACTGATGGAAGTGTTCCAAGTTGAGGGAGAAACGTACAGACCCTGGAGTGGGAGAAAGCTCCACGATTTTCAGACACAGCAAGGAACCGGTGTGGCTGGAAAGGACTAAGCCAGGGGGAGAGAAGGAGAGAGTGTGTGGTCAGGCAGGGCCTGAGGGGCCTTGTAGATGAAAGACTTTGTATTTTGGGCTGGGCACAGTGGCTTGCGCCTTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCTCAGGAGTTCAAGACCAGCATGGGGAACATAGCAAGACCCTGTCTCTACAAAAACAAACAAAAACCCTCCAGTAACTATCATGAGTATGACAGATTTACCGTCCTCTGCAATTCTGAACATAAAGCTTTAAAATCAAAAGGCTTTTTGCAAATTTGGCACCACCCTGATTTGACAGCAAAATCTCGCCTAAAGAACACAAGGCTGTTTGTAATCTATACTGATTTCATTTAGGGTGAATATTCGTACTTTTTGCTGTATACATTACATTGAACTATGTGAAATTTTTTCTGCATGTCAAAAATGGTCAAATGTGGCTGGGCGCAGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTAGAGGCCAAGAGTGCAAATGAGCTATAGTACTGCCACTGCACTTCAGCCTGGGCGACAGGGCCAGACCCTGTCTCTAAACGATAAAAAATAAAGGATTTGTATTTTAGGTGAACCACGGAGCAACAGAAGGAGGGTTTTGAGCAGAGAGTGCCATGATCTGATTTATGTATTACAAGGTGAATGAGGTTAGAGAGAGTGTAAGAGCCAGGGCCCAGGAGAAACGGCCCGTCCCTGTGACATAGTGCTCTGTCCAGGCTGAAGCTGAGGCTAGAGTCGCCTCAAAAGTGGCACCAGAAGAATTGCCCCAAGAGAGCACCCCAAACCACCCCGAAATGAGGCCACTTGGGATTCCAAAGAGAGAGGCACTAAACCACCAGGTGATCATCAGTCCAAAGCATTTGGGAGGGGAACTTGCACAGTGCTACGGCGAGAGAAAGGGAGGGTCTACCCAGACACGTCCGTGAGGGTCAGGGTATGGGTTTACATGAGGGTTTAAGGAATTTGGCCCAGGGCTGGGGCTGGTTTCTTTCATTCTTTCATTTTTGTTGTTGTTGTTGTTTGGGGTTTTTTTGAGACAGCGTCTCATTCTGTAACCTCTCGTACTCCTGACCTCAAGTGATCCACTCACTCTTCGGCCTCGCAAAGTGCTAGGATTACAGCAGTGAGCCACCATGCCCGGCCTCTTTCAGTGTTTTGAGCAACAACCTAAACACCTTTATCAGTGCCTGGGAATGTTCAAGGCCCCAGGCGTGGGTTAGTGAAGCTTGCAGTGAAAACAGGCAGCCGGCGGGGTCGTAGTGAGGTCAAGGCGCTCTCAGTCAGGACAGAGAAAAAAGGAGGGGAAATTGGAGGGCCCTACAGGAAGCTACCGCCCCCATCCTTGGCCACACTGGCCTTGCCTTGAGCCAAGGAGTCTCCGGGGCCGGGCCTCGCGTTGGCTCCGGGCCACCCTCAGACCTGATTTTGCCCCTGCAGTCGCCCCTGTGCTCCTCCTGGAGTCCCACTGCGCGGCAGCCCGAGACACGGTGCAGTGCCTGTGCGTGGTGAAGTCCAACCCGGAGCCGTCCGTGGCCTTTGAGCTGCCATCGCGCAATGTGACCGTGAACGAGAGCGAGCGGGAGTTCGTGTACTCGGAGCGCAGCGGCCTCGTGCTCACCAGCATCCTCACGCTGCGGGGGCAGGCCCAGGCCCCGCCCCGCGTCATCTGCACCGCGAGGAACCTCTATGGCGCCAAGAGCCTGGAGCTGCCCTTCCAGGGAGCCCGTGAGTGGCGTGGACTTGGGGTGGGAGCCACAGGAGGGAGCGGGCACGTCTTAGATCCAAGCTCCCAAGGCTGACCAACAGCCACAGAGCATGGGCTATGCAGATTGACAGAAAGGTCAAATTCTCCCTTTCCGGTTGGAGAGGAGAAGCCGCCCTGAGTTTGCCCCGAGTTTGCTAGGACCTTTGAGGCATGAGCCCCTCCCCAGGGCCCTCTAGCATGAAAGGGATTGCCCTGGCACGAGGAGGCTCCGTGCCAATCAGTCAGTGCAAGGATGCCCCGGCTGTGTGACTACATTGACTGTCATCCCAGCATGTCTCCAAAGTTCTCAGGTGTCGTCACCACCACCCATAGCCCTAAGGGCGCCTGGGTCTTTTCTGTCCTCAGATCGACTGATGTGGGCCAAGATCGGGCCTGTGGGCGCCGTGGTCGCCTTTGCCATCCTGATTGCCATCGTCTGCTACATTACCCAGACACGCAGGAAGTGAGTGCCAGCTGGGGCTGATCTGGGGATGGGAGTCTCCAAAAAGGGGACCTGGTGGGAGATGGAGGCCCAGAGTGGGTGGGGGAAGGCAGCACCATAAGTGTAGAGAAGGCAGATTCTGTTCTGGGAATGTTCAGCTGGACAGAGGAGAGAGGGTTCCTGTTAATTCCAGCCCCTGCTGGTCAGGGGCACACCAGGGCCTGGGCTGAGCCCTTTACACACATCATTTGAGACCTGTTTGCCCACATTCTATTTTGACAGCCTCCCTATCTCTAGGAACTCTCCCCTACACACTCCAGTGTGGTGGGGAAAGCCCAGGTACCCCACTGCAGCCACAGCAGCAGGTCCACTTGACGCCAGAAGCCCCAAAGATTACACACATCTGGGGCAAAAAAAAAATAGGCCTTGGCCGGGCGCGTTGACTCACGCCTGTTATCCCGCACTTTAGGAGGCCAAGGAGGAAGGATTGCTTGAGGCCAGGAATCTGACACCAGCCTGGGCAACATAGCAAGACCACATCTCTAAAAAAAATTTTTTTTTAATTAGCCAGGCATGGTGGCACACACTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGAACGATTCTTGAGCTCAGGAATTAGAGGCCAGCCTGGGCAACATAGGGAGACCCCATCTACAAAAAAACAAAAAAATTAGCTACTAGTGGCACGTGCCTGTTGTCCCAGCTACTCGGGAGGCTGAGGAGGGAAGATCGCTTGAGCCTGGGAGGTTGAGGCTGTAGTGAGCTATGATTTCACCACTGTACTCCAGCCTAGGTGACAAAGAGAGACCCTGTCTCTAAAAACAAACAAACAGACAGACAGACAGACAGAAAGCCTCTCCAGCCCCAAACCATACCCACCTGGCCCAACTCAGCTGCAGCCGTGTTTCTTTCTTGTGGCACACACACATCAGCTGTCCTGAGAAATAAATTAACCCCTCTGCTCCACATCCTGGTGGCAAGAGGGGCAGAAAGACCCAGAGCCTATGAGGGGAACCTGGAGAATCCAGGTGGGGGTCCTGAAAAACGGCAGAGCTCAGGGGCCAGGTGGCTCGTCCCCAGCCGGGCAGGGGCCACAGAGGTGGGAAGGATGGGCTGTGTGGGTAGGAGAGGCTGGTGGTTCTGAAAGGGCTGCTTGCCACATCTTAGAGATGGGTGGGAGAACTCTGAGGTCCCCTGAGCCAAACTCCTAAAACACGTGGGGGTGCAGAAAGGGAGGGCAGAGAGAGGTCTGACGAGTCCTGCCCTGCAGAAAGAACGTGACAGAGAGCCCCAGCTTCTCGGCAGGGGACAACCCTCCCGTCCTGTTCAG 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GCTTTAGGGGAGGAAGTGGGGGGCATCTGCAGCGCAGACTGAAAGGAAGGAGCACAGCCTGGAAGCCAGAAAGGAGGGGATAGTCTAAGCCTGTGTGAGCCCCAAGGGTCTGGGGAGGCCGGGGGCTGGGAGAGTTCCATGGTTCCTCCCTTCTACGTGTGGGGCCCAGAGTGGAGAAGGAGCAAGCCCCTGTCTTGATGGAAACAGGAGGCCCCTTATGTAAGTGTGTGATGCAGGGAGGGTGAGTGCTGGGGAGGAGAACTGAGTGAGGCAGGGAGTGAATGATACGTGGAGCGAGGTGCAGCTTCCCTGGGTGGTCAGAGAAGGAGACGCCGCATGGGTAGAGGCCAGTTTGGAGCGAGGGAGGGCGTTCCACAGGCAACTGATGGAAGTGTTCCAAGTTGAGGGAGAAACGTACAGACCCTGGAGTGGGAGAAAGCTCCACGATTTTCAGACACAGCAAGGAACCGGTGTGGCTGGAAAGGACTAAGCCAGGGGGAGAGAAGGAGAGAGTGTGTGGTCAGGCAGGGCCTGAGGGGCCTTGTAGATGAAAGACTTTGTATTTTGGGCTGGGCACAGTGGCTTGCGCCTTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCTCAGGAGTTCAAGACCAGCATGGGGAACATAGCAAGACCCTGTCTCTACAAAAACAAACAAAAACCCTCCAGTAACTATCATGAGTATGACAGATTTACCGTCCTCTGCAATTCTGAACATAAAGCTTTAAAATCAAAAGGCTTTTTGCAAATTTGGCACCACCCTGATTTGACAGCAAAATCTCGCCTAAAGAACACAAGGCTGTTTGTAATCTATACTGATTTCATTTAGGGTGAATATTCGTACTTTTTGCTGTATACATTACATTGAACTATGTGAAATTTTTTCTGCATGTCAAAAATGGTCAAATGTGGCTGGGCGCAGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTAGAGGCCAAGAGTGCAAATGAGCTATAGTACTGCCACTGCACTTCAGCCTGGGCGACAGGGCCAGACCCTGTCTCTAAACGATAAAAAATAAAGGATTTGTATTTTAGGTGAACCACGGAGCAACAGAAGGAGGGTTTTGAGCAGAGAGTGCCATGATCTGATTTATGTATTACAAGGTGAATGAGGTTAGAGAGAGTGTAAGAGCCAGGGCCCAGGAGAAACGGCCCGTCCCTGTGACATAGTGCTCTGTCCAGGCTGAAGCTGAGGCTAGAGTCGCCTCAAAAGTGGCACCAGAAGAATTGCCCCAAGAGAGCACCCCAAACCACCCCGAAATGAGGCCACTTGGGATTCCAAAGAGAGAGGCACTAAACCACCAGGTGATCATCAGTCCAAAGCATTTGGGAGGGGAACTTGCACAGTGCTACGGCGAGAGAAAGGGAGGGTCTACCCAGACACGTCCGTGAGGGTCAGGGTATGGGTTTACATGAGGGTTTAAGGAATTTGGCCCAGGGCTGGGGCTGGTTTCTTTCATTCTTTCATTTTTGTTGTTGTTGTTGTTTGGGGTTTTTTTGAGACAGCGTCTCATTCTGTAACCTCTCGTACTCCTGACCTCAAGTGATCCACTCACTCTTCGGCCTCGCAAAGTGCTAGGATTACAGCAGTGAGCCACCATGCCCGGCCTCTTTCAGTGTTTTGAGCAACAACCTAAACACCTTTATCAGTGCCTGGGAATGTTCAAGGCCCCAGGCGTGGGTTAGTGAAGCTTGCAGTGAAAACAGGCAGCCGGCGGGGTCGTAGTGAGGTCAAGGCGCTCTCAGTCAGGACAGAGAAAAAAGGAGGGGAAATTGGAGGGCCCTACAGGAAGCTACCGCCCCCATCCTTGGCCACACTGGCCTTGCCTTGAGCCAAGGAGTCTCCGGGGCCGGGCCTCGCGTTGGCTCCGGGCCACCCTCAGACCTGATTTTGCCCCTGCAGTCGCCCCTGTGCTCCTCCTGGAGTCCCACTGCGCGGCAGCCCGAGACACGGTGCAGGGCCTGTGCGTGGTGAAGTCCAACCCGGAGCCGTCCGTGGCCTTTGAGCTGCCATCGCGCAATGTGACCGTGAACGAGAGCGAGCGGGAGTTCGTGTACTCGGAGCGCAGCGGCCTCGTGCTCACCAGCATCCTCACGCTGCGGGGGCAGGCCCAGGCCCCGCCCCGCGTCATCTGCACCGCGAGGAACCTCTATGGCGCCAAGAGCCTGGAGCTGCCCTTCCAGGGAGCCCGTGAGTGGCGTGGACTTGGGGTGGGAGCCACAGGAGGGAGCGGGCACGTCTTAGATCCAAGCTCCCAAGGCTGACCAACAGCCACAGAGCATGGGCTATGCAGATTGACAGAAAGGTCAAATTCTCCCTTTCCGGTTGGAGAGGAGAAGCCGCCCTGAGTTTGCCCCGAGTTTGCTAGGACCTTTGAGGCATGAGCCCCTCCCCAGGGCCCTCTAGCATGAAAGGGATTGCCCTGGCACGAGGAGGCTCCGTGCCAATCAGTCAGTGCAAGGATGCCCCGGCTGTGTGACTACATTGACTGTCATCCCAGCATGTCTCCAAAGTTCTCAGGTGTCGTCACCACCACCCATAGCCCTAAGGGCGCCTGGGTCTTTTCTGTCCTCAGATCGACTGATGTGGGCCAAGATCGGGCCTGTGGGCGCCGTGGTCGCCTTTGCCATCCTGATTGCCATCGTCTGCTACATTACCCAGACACGCAGGAAGTGAGTGCCAGCTGGGGCTGATCTGGGGATGGGAGTCTCCAAAAAGGGGACCTGGTGGGAGATGGAGGCCCAGAGTGGGTGGGGGAAGGCAGCACCATAAGTGTAGAGAAGGCAGATTCTGTTCTGGGAATGTTCAGCTGGACAGAGGAGAGAGGGTTCCTGTTAATTCCAGCCCCTGCTGGTCAGGGGCACACCAGGGCCTGGGCTGAGCCCTTTACACACATCATTTGAGACCTGTTTGCCCACATTCTATTTTGACAGCCTCCCTATCTCTAGGAACTCTCCCCTACACACTCCAGTGTGGTGGGGAAAGCCCAGGTACCCCACTGCAGCCACAGCAGCAGGTCCACTTGACGCCAGAAGCCCCAAAGATTACACACATCTGGGGCAAAAAAAAAATAGGCCTTGGCCGGGCGCGTTGACTCACGCCTGTTATCCCGCACTTTAGGAGGCCAAGGAGGAAGGATTGCTTGAGGCCAGGAATCTGACACCAGCCTGGGCAACATAGCAAGACCACATCTCTAAAAAAAATTTTTTTTTAATTAGCCAGGCATGGTGGCACACACTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGAACGATTCTTGAGCTCAGGAATTAGAGGCCAGCCTGGGCAACATAGGGAGACCCCATCTACAAAAAAACAAAAAAATTAGCTACTAGTGGCACGTGCCTGTTGTCCCAGCTACTCGGGAGGCTGAGGAGGGAAGATCGCTTGAGCCTGGGAGGTTGAGGCTGTAGTGAGCTATGATTTCACCACTGTACTCCAGCCTAGGTGACAAAGAGAGACCCTGTCTCTAAAAACAAACAAACAGACAGACAGACAGACAGAAAGCCTCTCCAGCCCCAAACCATACCCACCTGGCCCAACTCAGCTGCAGCCGTGTTTCTTTCTTGTGGCACACACACATCAGCTGTCCTGAGAAATAAATTAACCCCTCTGCTCCACATCCTGGTGGCAAGAGGGGCAGAAAGACCCAGAGCCTATGAGGGGAACCTGGAGAATCCAGGTGGGGGTCCTGAAAAACGGCAGAGCTCAGGGGCCAGGTGGCTCGTCCCCAGCCGGGCAGGGGCCACAGAGGTGGGAAGGATGGGCTGTGTGGGTAGGAGAGGCTGGTGGTTCTGAAAGGGCTGCTTGCCACATCTTAGAGATGGGTGGGAGAACTCTGAGGTCCCCTGAGCCAAACTCCTAAAACACGTGGGGGTGCAGAAAGGGAGGGCAGAGAGAGGTCTGACGAGTCCTGCCCTGCAGAAAGAACGTGACAGAGAGCCCCAGCTTCTCGGCAGGGGACAACCCTCCCGTCCTGTTCAG 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Task1_train_27036 | Given this context: Chromosome 19, gene TMEM147, TMEM147-AS1 (transmembrane protein 147| TMEM147 antisense RNA 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Inborn genetic diseases | TGTCGTGGACCTGACCTGCCGCCTCGCCCAGCCTGCCCCCTACTCAGCCATCAAGGAGGCTGTAAAAGCAGCAGCCAAGGGGCCCATGGCTGGCATCCTTGCCTACACCGAGGATGAGGTAGGGGCTGAGGAGAGGAGACCCTGGGAGGAGCCCTCTGGGAAGGGACATGATTTCCACTTGCCAGGGAGCTGCTCTCAATGTGCCAAGTCAGAAACTGCAGGGCAGGAAGGGAGATCTCCCTGCCTCAGGGCCTTTGCACTTGCTGTTCCTTTAGTCTGGAATGCTTCCCTTGCCAGGTGACCATACAGTCTGTCCTTACTTCCTCCAAGTCTCTGGAGGAACCTCCCTCTTCAGCAAGGCACCCCCTCAAAATATGTTCTTTTTGTGGCCATATTCCTCACCTGAAATTTCATTTCATAGTCACTGTTGGCCCCAGTGGTGTGTGCACTCCAAGAAAACAGGGATTTAGGGGCTGCCTTTTCACTTTTGTGGCTCCAACCTGGCATACAGCAGGTGACTAATACATGCTTAGTGAACAAAAGACAACAGCTCCCATTTTTTTCAATACTTGCTCAGGGCCAGGCCATGGCCAGATGCCTTCTCTGTGAGGAGTGGATGCCATGGTCATGGTGGACCCCTGTACATCCACCTTGGTGCTGTCTCCCTGCATTAACTCCTGCAGGTCCACTTTCCCACAGTCACTGGGATCTTTTGTTTTAATGGAATCACATTGCATCACCCGTTTTCAGGATTGAAAACACTCCTGTGGCCTTTCATGACACTAGGGCTAAAACCCTCAGGTCCTCCCTTCCTGCAGCTCCTTCTACCTCAGACACTGTGCTGAGGGCCCCAGCCGGTCAGATCTTTCTAGTCATCTAGACCCAGGCTCATGGCCACCCCTCAGAGAGGCCCTCCATGCTGGCCCATTCCAAACGCTTGCATTATTCCTAGGAAAGGGATGTACTGGTACAGCATGAGGGTGTTTGTGACCTGTGCCCTTTGGCCAGACCCTGACACAGTGCCTTGGTCATACCCTGCACTTGGTCATACCCTCCAGTCCAGAGACTGGACACAGTAGGGCTACATCAAATATTATAGATGAATGCATGGATGGGCGATAGAGTTAAGAGTCGGGGCCTCAGCTCCTGGAGGTCCTTGCTCTGCCGGACACACTTATCTTTGAAATTCTGACTTCCAGGTCGTCTCTACGGACTTCCTCGGTGATACCCACTCGTCCATCTTCGATGCTAAGGCCGGCATTGCGCTCAATGACAATTTCGTGAAGCTCATTTCATGGTAAGGGGGAAGGAGCTGGAGACTTAGAGGGAGGGGAACTAAGGGGTGGTCGGAAGGAACCCCCTTGAACCTCCCGACCCCTCCTCCACAGGTACGACAACGAATATGGCTACAGTCACCGGGTGGTCGACCTCCTCCGCTACATGTTCAGCCGAGACAAGTGAAACGGGAAGGTCCTTTCTTTCCTTCCCAGGGGCCGGGGCCGGAACATGTGCCTCCCGTTCCAGCATCTGGCTGCCCGGGGGAGGAAGGACACCCGGGGCGGGCGCCCCACGCCGATGGGTCCATGGTGAAATAAAAAACAGTGCTCACGGCTGCGTCCCGTATCTCTGCGCCGGTCAGGGCGGGTTCTGATCCGGGTTTGAGGCCCGCCCCACCCTTACTCGATCGCCTGCGCCCACGGGCGAGGGGTCGCGCTCGACTCCAAGCCGGGTTCCACTTCAGGAGACCGGGACCGCGATGGCAGCGGTAGAGGCCCCGCATGGCCGGAAGTCACTCCCCAAAGCGCTGGGCCGGCAGCGGTGGGACCCAGGGCCGGCCACGGGCTCTCTGACGTCACTGGGCGCGACGCCCCGCGCCGGGACTACTGCTCCCAGAAGGTCGCGCGCGGGCCCCCGCCAGTCAGGTGGGTGCCAGGCCCTGGCCGTGGCGAAAGAGCCGGCGGAGCCGGAGACCCGCTCCCGGAGACGCCGCCTCGCGATCCCCGCGCGGGCGGGACCGGGCGGCCGGCATCATGACCCTGTTTCACTTCGGGAACTGCTTCGCTCTTGCCTACTTCCCCTACTTCATCACCTACAAGTGCAGCGGCCTGTGAGTGCGGGAAGGGCGCGGGGCGGAGAGGGCGCGGGGCCCGGGCCGACCCTCACCTCCCGCTTCTCCAGGTCCGAGTACAACGCCTTCTGGAAATGCGTCCAGGCTGGAGTCACCTACCTCTTTGTCCAACTCTGCAAGGTGAGGGCCACCGGGAAGCCACGTGTTCTGGCCCCCAGGCTCTGCAGACCCAGGGACCCGCCCCCGTTGCCTATCCGCGCCCCCGCCGCCCCACGGTGGGACCGCCCTCGGGACTCCGCACTGGGAGGCGTCAGGATACCTAGAGAGGATGGACTTTAAAGAGGGCACGACCTGAGAAGAGACCTAGAAGCAACTTTTGCGTAGCACTTAGTAAAACTGAGAAAACCTCAGTAGTGTGGTTGGCTAACAGGTTTTTTTTGGTGCGGTTAAGAGTGATCACTGATTCCGTACGTGCTGCTAACACTGCCCAAGGAGCAGCACCTTCAGACCTGACTCAGATGCCCTGTGATCACCCAGAACTCAAACTTCCAGCCCCCTCGGGGACCCGGGGACCTATCCTCTATCTCCCCGATTCCTGTAATTTTGCCACCATCTGGTGGTTCCTCTTCCAGATGGGCCCCCAGAACCTGTCCTGCCCTCTTCCTACCCACGAACTTCCCACAAATCCCACGTGGTTTATCTTGATCCCCTCACCTTGAAGTGACCTCTTTCTGCTTTCTGTTCTCAGATGCTGTTCTTGGCCACTTTCTTTCCCACCTGGGAAGGCGGCATCTATGACTTCATTGGGGTGAGAGGGGCCAGGGAAGGGAAGGGAGTTCAGGAATGGGGCTCCCTGTCCCCCTGTGCTTACTTAAGCCTCAACCTGACCCGCAGGAGTTCATGAAGGCCAGCGTGGATGTGGCAGACCTGATAGGTCTAAACCTTGTCATGTCCCGGAATGCCGGCAAGGGAGAGTACAAGATCATGGTTGCTGCCCTGGGCTGGGCCACTGCTGAGCTTATTATGTCCCGGTGCGTACAGCAGCCTGGAGCCCAGACCCCTGAGAAGGGACACCTGGGTTCCACGGGGGTGCTGGAGGGCAGGGGCTCAAAGCCTGGTGCTGAAGGTGTCTGAGTACTGGAGAATCCCATCCTTTGCCTTCCTCAGCTGCATTCCCCTATGGGTCGGAGCCCGGGGCATTGAGTTTGACTGGAAGTACATCCAGATGAGCATAGACTCCAACATCAGTCTGGTAGGCAGTCGTGCTCTCCCACATACACATTTCTGCTGGCGGCCATACTCCTCCCCAAGGCCTGGCCCCGACTTTCTGCCTCCCTCTAGGTCCATTACATCGTCGCGTCTGCTCAGGTCTGGATGATAACACGCTATGATCTGTACCACACCTTCCGGCCAGCTGTCCTCCTGCTGATGTTCCTCAGTGTCTACAAGGCCTTTGTTATGGAGTGAGTTGGGTGGGGTTTAGGGCTGGGTCCAAAGTGGGGTGGGTTATCTAGTCTCCCTTCCTTATTGTGACATTTTCCTGCAGGACCTTCGTCCACCTCTGCTCGCTGGGCAGTTGGGCAGCTCTACTGGCCCGAGCAGTGGTAACGGGGCTGCTGGCCCTCAGCACTTTGGCCCTGTATGTCGCCGTTGTCAATGTGCACTCCTAGGCTTGGTGTCTCAGACATTGATGTACCTTTTCCCTGCCTCACTCCAGGTTTTAGTGAAGTAAACAGTATTTGGAAAGTTGTTGCTGCCTCCATTTCTCTCTCTTGGGAACTGTCTCCCAATACCGTGTCCACCTGGGTCTCAGAGGCCCTGGTTCTGTCTCAGGAGCCAGGTAGACAAGCTGGAAGCTAGCCAGTCACTGACTTGTCCCATGTCTTGTTCCTCAGGCTCCTGGTTTGCCAGGAGTAGACAGAAGGTTTGGATGATCTTTGAGCAGTGGCAGAGGCCAGGGCCCTCAGGGAACAGATGATAGAGGGGAGCTAGAATCCAAGAGAAGGCCCTTGGGGGGCTCTTCCTCCT | TGTCGTGGACCTGACCTGCCGCCTCGCCCAGCCTGCCCCCTACTCAGCCATCAAGGAGGCTGTAAAAGCAGCAGCCAAGGGGCCCATGGCTGGCATCCTTGCCTACACCGAGGATGAGGTAGGGGCTGAGGAGAGGAGACCCTGGGAGGAGCCCTCTGGGAAGGGACATGATTTCCACTTGCCAGGGAGCTGCTCTCAATGTGCCAAGTCAGAAACTGCAGGGCAGGAAGGGAGATCTCCCTGCCTCAGGGCCTTTGCACTTGCTGTTCCTTTAGTCTGGAATGCTTCCCTTGCCAGGTGACCATACAGTCTGTCCTTACTTCCTCCAAGTCTCTGGAGGAACCTCCCTCTTCAGCAAGGCACCCCCTCAAAATATGTTCTTTTTGTGGCCATATTCCTCACCTGAAATTTCATTTCATAGTCACTGTTGGCCCCAGTGGTGTGTGCACTCCAAGAAAACAGGGATTTAGGGGCTGCCTTTTCACTTTTGTGGCTCCAACCTGGCATACAGCAGGTGACTAATACATGCTTAGTGAACAAAAGACAACAGCTCCCATTTTTTTCAATACTTGCTCAGGGCCAGGCCATGGCCAGATGCCTTCTCTGTGAGGAGTGGATGCCATGGTCATGGTGGACCCCTGTACATCCACCTTGGTGCTGTCTCCCTGCATTAACTCCTGCAGGTCCACTTTCCCACAGTCACTGGGATCTTTTGTTTTAATGGAATCACATTGCATCACCCGTTTTCAGGATTGAAAACACTCCTGTGGCCTTTCATGACACTAGGGCTAAAACCCTCAGGTCCTCCCTTCCTGCAGCTCCTTCTACCTCAGACACTGTGCTGAGGGCCCCAGCCGGTCAGATCTTTCTAGTCATCTAGACCCAGGCTCATGGCCACCCCTCAGAGAGGCCCTCCATGCTGGCCCATTCCAAACGCTTGCATTATTCCTAGGAAAGGGATGTACTGGTACAGCATGAGGGTGTTTGTGACCTGTGCCCTTTGGCCAGACCCTGACACAGTGCCTTGGTCATACCCTGCACTTGGTCATACCCTCCAGTCCAGAGACTGGACACAGTAGGGCTACATCAAATATTATAGATGAATGCATGGATGGGCGATAGAGTTAAGAGTCGGGGCCTCAGCTCCTGGAGGTCCTTGCTCTGCCGGACACACTTATCTTTGAAATTCTGACTTCCAGGTCGTCTCTACGGACTTCCTCGGTGATACCCACTCGTCCATCTTCGATGCTAAGGCCGGCATTGCGCTCAATGACAATTTCGTGAAGCTCATTTCATGGTAAGGGGGAAGGAGCTGGAGACTTAGAGGGAGGGGAACTAAGGGGTGGTCGGAAGGAACCCCCTTGAACCTCCCGACCCCTCCTCCACAGGTACGACAACGAATATGGCTACAGTCACCGGGTGGTCGACCTCCTCCGCTACATGTTCAGCCGAGACAAGTGAAACGGGAAGGTCCTTTCTTTCCTTCCCAGGGGCCGGGGCCGGAACATGTGCCTCCCGTTCCAGCATCTGGCTGCCCGGGGGAGGAAGGACACCCGGGGCGGGCGCCCCACGCCGATGGGTCCATGGTGAAATAAAAAACAGTGCTCACGGCTGCGTCCCGTATCTCTGCGCCGGTCAGGGCGGGTTCTGATCCGGGTTTGAGGCCCGCCCCACCCTTACTCGATCGCCTGCGCCCACGGGCGAGGGGTCGCGCTCGACTCCAAGCCGGGTTCCACTTCAGGAGACCGGGACCGCGATGGCAGCGGTAGAGGCCCCGCATGGCCGGAAGTCACTCCCCAAAGCGCTGGGCCGGCAGCGGTGGGACCCAGGGCCGGCCACGGGCTCTCTGACGTCACTGGGCGCGACGCCCCGCGCCGGGACTACTGCTCCCAGAAGGTCGCGCGCGGGCCCCCGCCAGTCAGGTGGGTGCCAGGCCCTGGCCGTGGCGAAAGAGCCGGCGGAGCCGGAGACCCGCTCCCGGAGACGCCGCCTCGCGATCCCCGCGCGGGCGGGACCGGGCGGCCGGCATCATGACCCTGTTTCACTTCCGGAACTGCTTCGCTCTTGCCTACTTCCCCTACTTCATCACCTACAAGTGCAGCGGCCTGTGAGTGCGGGAAGGGCGCGGGGCGGAGAGGGCGCGGGGCCCGGGCCGACCCTCACCTCCCGCTTCTCCAGGTCCGAGTACAACGCCTTCTGGAAATGCGTCCAGGCTGGAGTCACCTACCTCTTTGTCCAACTCTGCAAGGTGAGGGCCACCGGGAAGCCACGTGTTCTGGCCCCCAGGCTCTGCAGACCCAGGGACCCGCCCCCGTTGCCTATCCGCGCCCCCGCCGCCCCACGGTGGGACCGCCCTCGGGACTCCGCACTGGGAGGCGTCAGGATACCTAGAGAGGATGGACTTTAAAGAGGGCACGACCTGAGAAGAGACCTAGAAGCAACTTTTGCGTAGCACTTAGTAAAACTGAGAAAACCTCAGTAGTGTGGTTGGCTAACAGGTTTTTTTTGGTGCGGTTAAGAGTGATCACTGATTCCGTACGTGCTGCTAACACTGCCCAAGGAGCAGCACCTTCAGACCTGACTCAGATGCCCTGTGATCACCCAGAACTCAAACTTCCAGCCCCCTCGGGGACCCGGGGACCTATCCTCTATCTCCCCGATTCCTGTAATTTTGCCACCATCTGGTGGTTCCTCTTCCAGATGGGCCCCCAGAACCTGTCCTGCCCTCTTCCTACCCACGAACTTCCCACAAATCCCACGTGGTTTATCTTGATCCCCTCACCTTGAAGTGACCTCTTTCTGCTTTCTGTTCTCAGATGCTGTTCTTGGCCACTTTCTTTCCCACCTGGGAAGGCGGCATCTATGACTTCATTGGGGTGAGAGGGGCCAGGGAAGGGAAGGGAGTTCAGGAATGGGGCTCCCTGTCCCCCTGTGCTTACTTAAGCCTCAACCTGACCCGCAGGAGTTCATGAAGGCCAGCGTGGATGTGGCAGACCTGATAGGTCTAAACCTTGTCATGTCCCGGAATGCCGGCAAGGGAGAGTACAAGATCATGGTTGCTGCCCTGGGCTGGGCCACTGCTGAGCTTATTATGTCCCGGTGCGTACAGCAGCCTGGAGCCCAGACCCCTGAGAAGGGACACCTGGGTTCCACGGGGGTGCTGGAGGGCAGGGGCTCAAAGCCTGGTGCTGAAGGTGTCTGAGTACTGGAGAATCCCATCCTTTGCCTTCCTCAGCTGCATTCCCCTATGGGTCGGAGCCCGGGGCATTGAGTTTGACTGGAAGTACATCCAGATGAGCATAGACTCCAACATCAGTCTGGTAGGCAGTCGTGCTCTCCCACATACACATTTCTGCTGGCGGCCATACTCCTCCCCAAGGCCTGGCCCCGACTTTCTGCCTCCCTCTAGGTCCATTACATCGTCGCGTCTGCTCAGGTCTGGATGATAACACGCTATGATCTGTACCACACCTTCCGGCCAGCTGTCCTCCTGCTGATGTTCCTCAGTGTCTACAAGGCCTTTGTTATGGAGTGAGTTGGGTGGGGTTTAGGGCTGGGTCCAAAGTGGGGTGGGTTATCTAGTCTCCCTTCCTTATTGTGACATTTTCCTGCAGGACCTTCGTCCACCTCTGCTCGCTGGGCAGTTGGGCAGCTCTACTGGCCCGAGCAGTGGTAACGGGGCTGCTGGCCCTCAGCACTTTGGCCCTGTATGTCGCCGTTGTCAATGTGCACTCCTAGGCTTGGTGTCTCAGACATTGATGTACCTTTTCCCTGCCTCACTCCAGGTTTTAGTGAAGTAAACAGTATTTGGAAAGTTGTTGCTGCCTCCATTTCTCTCTCTTGGGAACTGTCTCCCAATACCGTGTCCACCTGGGTCTCAGAGGCCCTGGTTCTGTCTCAGGAGCCAGGTAGACAAGCTGGAAGCTAGCCAGTCACTGACTTGTCCCATGTCTTGTTCCTCAGGCTCCTGGTTTGCCAGGAGTAGACAGAAGGTTTGGATGATCTTTGAGCAGTGGCAGAGGCCAGGGCCCTCAGGGAACAGATGATAGAGGGGAGCTAGAATCCAAGAGAAGGCCCTTGGGGGGCTCTTCCTCCT 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Task1_train_27037 | This variant lies on Chromosome 19 and affects the gene TMEM147, TMEM147-AS1 (transmembrane protein 147| TMEM147 antisense RNA 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | TGTCGTGGACCTGACCTGCCGCCTCGCCCAGCCTGCCCCCTACTCAGCCATCAAGGAGGCTGTAAAAGCAGCAGCCAAGGGGCCCATGGCTGGCATCCTTGCCTACACCGAGGATGAGGTAGGGGCTGAGGAGAGGAGACCCTGGGAGGAGCCCTCTGGGAAGGGACATGATTTCCACTTGCCAGGGAGCTGCTCTCAATGTGCCAAGTCAGAAACTGCAGGGCAGGAAGGGAGATCTCCCTGCCTCAGGGCCTTTGCACTTGCTGTTCCTTTAGTCTGGAATGCTTCCCTTGCCAGGTGACCATACAGTCTGTCCTTACTTCCTCCAAGTCTCTGGAGGAACCTCCCTCTTCAGCAAGGCACCCCCTCAAAATATGTTCTTTTTGTGGCCATATTCCTCACCTGAAATTTCATTTCATAGTCACTGTTGGCCCCAGTGGTGTGTGCACTCCAAGAAAACAGGGATTTAGGGGCTGCCTTTTCACTTTTGTGGCTCCAACCTGGCATACAGCAGGTGACTAATACATGCTTAGTGAACAAAAGACAACAGCTCCCATTTTTTTCAATACTTGCTCAGGGCCAGGCCATGGCCAGATGCCTTCTCTGTGAGGAGTGGATGCCATGGTCATGGTGGACCCCTGTACATCCACCTTGGTGCTGTCTCCCTGCATTAACTCCTGCAGGTCCACTTTCCCACAGTCACTGGGATCTTTTGTTTTAATGGAATCACATTGCATCACCCGTTTTCAGGATTGAAAACACTCCTGTGGCCTTTCATGACACTAGGGCTAAAACCCTCAGGTCCTCCCTTCCTGCAGCTCCTTCTACCTCAGACACTGTGCTGAGGGCCCCAGCCGGTCAGATCTTTCTAGTCATCTAGACCCAGGCTCATGGCCACCCCTCAGAGAGGCCCTCCATGCTGGCCCATTCCAAACGCTTGCATTATTCCTAGGAAAGGGATGTACTGGTACAGCATGAGGGTGTTTGTGACCTGTGCCCTTTGGCCAGACCCTGACACAGTGCCTTGGTCATACCCTGCACTTGGTCATACCCTCCAGTCCAGAGACTGGACACAGTAGGGCTACATCAAATATTATAGATGAATGCATGGATGGGCGATAGAGTTAAGAGTCGGGGCCTCAGCTCCTGGAGGTCCTTGCTCTGCCGGACACACTTATCTTTGAAATTCTGACTTCCAGGTCGTCTCTACGGACTTCCTCGGTGATACCCACTCGTCCATCTTCGATGCTAAGGCCGGCATTGCGCTCAATGACAATTTCGTGAAGCTCATTTCATGGTAAGGGGGAAGGAGCTGGAGACTTAGAGGGAGGGGAACTAAGGGGTGGTCGGAAGGAACCCCCTTGAACCTCCCGACCCCTCCTCCACAGGTACGACAACGAATATGGCTACAGTCACCGGGTGGTCGACCTCCTCCGCTACATGTTCAGCCGAGACAAGTGAAACGGGAAGGTCCTTTCTTTCCTTCCCAGGGGCCGGGGCCGGAACATGTGCCTCCCGTTCCAGCATCTGGCTGCCCGGGGGAGGAAGGACACCCGGGGCGGGCGCCCCACGCCGATGGGTCCATGGTGAAATAAAAAACAGTGCTCACGGCTGCGTCCCGTATCTCTGCGCCGGTCAGGGCGGGTTCTGATCCGGGTTTGAGGCCCGCCCCACCCTTACTCGATCGCCTGCGCCCACGGGCGAGGGGTCGCGCTCGACTCCAAGCCGGGTTCCACTTCAGGAGACCGGGACCGCGATGGCAGCGGTAGAGGCCCCGCATGGCCGGAAGTCACTCCCCAAAGCGCTGGGCCGGCAGCGGTGGGACCCAGGGCCGGCCACGGGCTCTCTGACGTCACTGGGCGCGACGCCCCGCGCCGGGACTACTGCTCCCAGAAGGTCGCGCGCGGGCCCCCGCCAGTCAGGTGGGTGCCAGGCCCTGGCCGTGGCGAAAGAGCCGGCGGAGCCGGAGACCCGCTCCCGGAGACGCCGCCTCGCGATCCCCGCGCGGGCGGGACCGGGCGGCCGGCATCATGACCCTGTTTCACTTCGGGAACTGCTTCGCTCTTGCCTACTTCCCCTACTTCATCACCTACAAGTGCAGCGGCCTGTGAGTGCGGGAAGGGCGCGGGGCGGAGAGGGCGCGGGGCCCGGGCCGACCCTCACCTCCCGCTTCTCCAGGTCCGAGTACAACGCCTTCTGGAAATGCGTCCAGGCTGGAGTCACCTACCTCTTTGTCCAACTCTGCAAGGTGAGGGCCACCGGGAAGCCACGTGTTCTGGCCCCCAGGCTCTGCAGACCCAGGGACCCGCCCCCGTTGCCTATCCGCGCCCCCGCCGCCCCACGGTGGGACCGCCCTCGGGACTCCGCACTGGGAGGCGTCAGGATACCTAGAGAGGATGGACTTTAAAGAGGGCACGACCTGAGAAGAGACCTAGAAGCAACTTTTGCGTAGCACTTAGTAAAACTGAGAAAACCTCAGTAGTGTGGTTGGCTAACAGGTTTTTTTTGGTGCGGTTAAGAGTGATCACTGATTCCGTACGTGCTGCTAACACTGCCCAAGGAGCAGCACCTTCAGACCTGACTCAGATGCCCTGTGATCACCCAGAACTCAAACTTCCAGCCCCCTCGGGGACCCGGGGACCTATCCTCTATCTCCCCGATTCCTGTAATTTTGCCACCATCTGGTGGTTCCTCTTCCAGATGGGCCCCCAGAACCTGTCCTGCCCTCTTCCTACCCACGAACTTCCCACAAATCCCACGTGGTTTATCTTGATCCCCTCACCTTGAAGTGACCTCTTTCTGCTTTCTGTTCTCAGATGCTGTTCTTGGCCACTTTCTTTCCCACCTGGGAAGGCGGCATCTATGACTTCATTGGGGTGAGAGGGGCCAGGGAAGGGAAGGGAGTTCAGGAATGGGGCTCCCTGTCCCCCTGTGCTTACTTAAGCCTCAACCTGACCCGCAGGAGTTCATGAAGGCCAGCGTGGATGTGGCAGACCTGATAGGTCTAAACCTTGTCATGTCCCGGAATGCCGGCAAGGGAGAGTACAAGATCATGGTTGCTGCCCTGGGCTGGGCCACTGCTGAGCTTATTATGTCCCGGTGCGTACAGCAGCCTGGAGCCCAGACCCCTGAGAAGGGACACCTGGGTTCCACGGGGGTGCTGGAGGGCAGGGGCTCAAAGCCTGGTGCTGAAGGTGTCTGAGTACTGGAGAATCCCATCCTTTGCCTTCCTCAGCTGCATTCCCCTATGGGTCGGAGCCCGGGGCATTGAGTTTGACTGGAAGTACATCCAGATGAGCATAGACTCCAACATCAGTCTGGTAGGCAGTCGTGCTCTCCCACATACACATTTCTGCTGGCGGCCATACTCCTCCCCAAGGCCTGGCCCCGACTTTCTGCCTCCCTCTAGGTCCATTACATCGTCGCGTCTGCTCAGGTCTGGATGATAACACGCTATGATCTGTACCACACCTTCCGGCCAGCTGTCCTCCTGCTGATGTTCCTCAGTGTCTACAAGGCCTTTGTTATGGAGTGAGTTGGGTGGGGTTTAGGGCTGGGTCCAAAGTGGGGTGGGTTATCTAGTCTCCCTTCCTTATTGTGACATTTTCCTGCAGGACCTTCGTCCACCTCTGCTCGCTGGGCAGTTGGGCAGCTCTACTGGCCCGAGCAGTGGTAACGGGGCTGCTGGCCCTCAGCACTTTGGCCCTGTATGTCGCCGTTGTCAATGTGCACTCCTAGGCTTGGTGTCTCAGACATTGATGTACCTTTTCCCTGCCTCACTCCAGGTTTTAGTGAAGTAAACAGTATTTGGAAAGTTGTTGCTGCCTCCATTTCTCTCTCTTGGGAACTGTCTCCCAATACCGTGTCCACCTGGGTCTCAGAGGCCCTGGTTCTGTCTCAGGAGCCAGGTAGACAAGCTGGAAGCTAGCCAGTCACTGACTTGTCCCATGTCTTGTTCCTCAGGCTCCTGGTTTGCCAGGAGTAGACAGAAGGTTTGGATGATCTTTGAGCAGTGGCAGAGGCCAGGGCCCTCAGGGAACAGATGATAGAGGGGAGCTAGAATCCAAGAGAAGGCCCTTGGGGGGCTCTTCCTCCT 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TGTCGTGGACCTGACCTGCCGCCTCGCCCAGCCTGCCCCCTACTCAGCCATCAAGGAGGCTGTAAAAGCAGCAGCCAAGGGGCCCATGGCTGGCATCCTTGCCTACACCGAGGATGAGGTAGGGGCTGAGGAGAGGAGACCCTGGGAGGAGCCCTCTGGGAAGGGACATGATTTCCACTTGCCAGGGAGCTGCTCTCAATGTGCCAAGTCAGAAACTGCAGGGCAGGAAGGGAGATCTCCCTGCCTCAGGGCCTTTGCACTTGCTGTTCCTTTAGTCTGGAATGCTTCCCTTGCCAGGTGACCATACAGTCTGTCCTTACTTCCTCCAAGTCTCTGGAGGAACCTCCCTCTTCAGCAAGGCACCCCCTCAAAATATGTTCTTTTTGTGGCCATATTCCTCACCTGAAATTTCATTTCATAGTCACTGTTGGCCCCAGTGGTGTGTGCACTCCAAGAAAACAGGGATTTAGGGGCTGCCTTTTCACTTTTGTGGCTCCAACCTGGCATACAGCAGGTGACTAATACATGCTTAGTGAACAAAAGACAACAGCTCCCATTTTTTTCAATACTTGCTCAGGGCCAGGCCATGGCCAGATGCCTTCTCTGTGAGGAGTGGATGCCATGGTCATGGTGGACCCCTGTACATCCACCTTGGTGCTGTCTCCCTGCATTAACTCCTGCAGGTCCACTTTCCCACAGTCACTGGGATCTTTTGTTTTAATGGAATCACATTGCATCACCCGTTTTCAGGATTGAAAACACTCCTGTGGCCTTTCATGACACTAGGGCTAAAACCCTCAGGTCCTCCCTTCCTGCAGCTCCTTCTACCTCAGACACTGTGCTGAGGGCCCCAGCCGGTCAGATCTTTCTAGTCATCTAGACCCAGGCTCATGGCCACCCCTCAGAGAGGCCCTCCATGCTGGCCCATTCCAAACGCTTGCATTATTCCTAGGAAAGGGATGTACTGGTACAGCATGAGGGTGTTTGTGACCTGTGCCCTTTGGCCAGACCCTGACACAGTGCCTTGGTCATACCCTGCACTTGGTCATACCCTCCAGTCCAGAGACTGGACACAGTAGGGCTACATCAAATATTATAGATGAATGCATGGATGGGCGATAGAGTTAAGAGTCGGGGCCTCAGCTCCTGGAGGTCCTTGCTCTGCCGGACACACTTATCTTTGAAATTCTGACTTCCAGGTCGTCTCTACGGACTTCCTCGGTGATACCCACTCGTCCATCTTCGATGCTAAGGCCGGCATTGCGCTCAATGACAATTTCGTGAAGCTCATTTCATGGTAAGGGGGAAGGAGCTGGAGACTTAGAGGGAGGGGAACTAAGGGGTGGTCGGAAGGAACCCCCTTGAACCTCCCGACCCCTCCTCCACAGGTACGACAACGAATATGGCTACAGTCACCGGGTGGTCGACCTCCTCCGCTACATGTTCAGCCGAGACAAGTGAAACGGGAAGGTCCTTTCTTTCCTTCCCAGGGGCCGGGGCCGGAACATGTGCCTCCCGTTCCAGCATCTGGCTGCCCGGGGGAGGAAGGACACCCGGGGCGGGCGCCCCACGCCGATGGGTCCATGGTGAAATAAAAAACAGTGCTCACGGCTGCGTCCCGTATCTCTGCGCCGGTCAGGGCGGGTTCTGATCCGGGTTTGAGGCCCGCCCCACCCTTACTCGATCGCCTGCGCCCACGGGCGAGGGGTCGCGCTCGACTCCAAGCCGGGTTCCACTTCAGGAGACCGGGACCGCGATGGCAGCGGTAGAGGCCCCGCATGGCCGGAAGTCACTCCCCAAAGCGCTGGGCCGGCAGCGGTGGGACCCAGGGCCGGCCACGGGCTCTCTGACGTCACTGGGCGCGACGCCCCGCGCCGGGACTACTGCTCCCAGAAGGTCGCGCGCGGGCCCCCGCCAGTCAGGTGGGTGCCAGGCCCTGGCCGTGGCGAAAGAGCCGGCGGAGCCGGAGACCCGCTCCCGGAGACGCCGCCTCGCGATCCCCGCGCGGGCGGGACCGGGCGGCCGGCATCATGACCCTGTTTCACTTCCGGAACTGCTTCGCTCTTGCCTACTTCCCCTACTTCATCACCTACAAGTGCAGCGGCCTGTGAGTGCGGGAAGGGCGCGGGGCGGAGAGGGCGCGGGGCCCGGGCCGACCCTCACCTCCCGCTTCTCCAGGTCCGAGTACAACGCCTTCTGGAAATGCGTCCAGGCTGGAGTCACCTACCTCTTTGTCCAACTCTGCAAGGTGAGGGCCACCGGGAAGCCACGTGTTCTGGCCCCCAGGCTCTGCAGACCCAGGGACCCGCCCCCGTTGCCTATCCGCGCCCCCGCCGCCCCACGGTGGGACCGCCCTCGGGACTCCGCACTGGGAGGCGTCAGGATACCTAGAGAGGATGGACTTTAAAGAGGGCACGACCTGAGAAGAGACCTAGAAGCAACTTTTGCGTAGCACTTAGTAAAACTGAGAAAACCTCAGTAGTGTGGTTGGCTAACAGGTTTTTTTTGGTGCGGTTAAGAGTGATCACTGATTCCGTACGTGCTGCTAACACTGCCCAAGGAGCAGCACCTTCAGACCTGACTCAGATGCCCTGTGATCACCCAGAACTCAAACTTCCAGCCCCCTCGGGGACCCGGGGACCTATCCTCTATCTCCCCGATTCCTGTAATTTTGCCACCATCTGGTGGTTCCTCTTCCAGATGGGCCCCCAGAACCTGTCCTGCCCTCTTCCTACCCACGAACTTCCCACAAATCCCACGTGGTTTATCTTGATCCCCTCACCTTGAAGTGACCTCTTTCTGCTTTCTGTTCTCAGATGCTGTTCTTGGCCACTTTCTTTCCCACCTGGGAAGGCGGCATCTATGACTTCATTGGGGTGAGAGGGGCCAGGGAAGGGAAGGGAGTTCAGGAATGGGGCTCCCTGTCCCCCTGTGCTTACTTAAGCCTCAACCTGACCCGCAGGAGTTCATGAAGGCCAGCGTGGATGTGGCAGACCTGATAGGTCTAAACCTTGTCATGTCCCGGAATGCCGGCAAGGGAGAGTACAAGATCATGGTTGCTGCCCTGGGCTGGGCCACTGCTGAGCTTATTATGTCCCGGTGCGTACAGCAGCCTGGAGCCCAGACCCCTGAGAAGGGACACCTGGGTTCCACGGGGGTGCTGGAGGGCAGGGGCTCAAAGCCTGGTGCTGAAGGTGTCTGAGTACTGGAGAATCCCATCCTTTGCCTTCCTCAGCTGCATTCCCCTATGGGTCGGAGCCCGGGGCATTGAGTTTGACTGGAAGTACATCCAGATGAGCATAGACTCCAACATCAGTCTGGTAGGCAGTCGTGCTCTCCCACATACACATTTCTGCTGGCGGCCATACTCCTCCCCAAGGCCTGGCCCCGACTTTCTGCCTCCCTCTAGGTCCATTACATCGTCGCGTCTGCTCAGGTCTGGATGATAACACGCTATGATCTGTACCACACCTTCCGGCCAGCTGTCCTCCTGCTGATGTTCCTCAGTGTCTACAAGGCCTTTGTTATGGAGTGAGTTGGGTGGGGTTTAGGGCTGGGTCCAAAGTGGGGTGGGTTATCTAGTCTCCCTTCCTTATTGTGACATTTTCCTGCAGGACCTTCGTCCACCTCTGCTCGCTGGGCAGTTGGGCAGCTCTACTGGCCCGAGCAGTGGTAACGGGGCTGCTGGCCCTCAGCACTTTGGCCCTGTATGTCGCCGTTGTCAATGTGCACTCCTAGGCTTGGTGTCTCAGACATTGATGTACCTTTTCCCTGCCTCACTCCAGGTTTTAGTGAAGTAAACAGTATTTGGAAAGTTGTTGCTGCCTCCATTTCTCTCTCTTGGGAACTGTCTCCCAATACCGTGTCCACCTGGGTCTCAGAGGCCCTGGTTCTGTCTCAGGAGCCAGGTAGACAAGCTGGAAGCTAGCCAGTCACTGACTTGTCCCATGTCTTGTTCCTCAGGCTCCTGGTTTGCCAGGAGTAGACAGAAGGTTTGGATGATCTTTGAGCAGTGGCAGAGGCCAGGGCCCTCAGGGAACAGATGATAGAGGGGAGCTAGAATCCAAGAGAAGGCCCTTGGGGGGCTCTTCCTCCT 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Task1_train_27038 | The gene TMEM147 (transmembrane protein 147) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | CTTCGATGCTAAGGCCGGCATTGCGCTCAATGACAATTTCGTGAAGCTCATTTCATGGTAAGGGGGAAGGAGCTGGAGACTTAGAGGGAGGGGAACTAAGGGGTGGTCGGAAGGAACCCCCTTGAACCTCCCGACCCCTCCTCCACAGGTACGACAACGAATATGGCTACAGTCACCGGGTGGTCGACCTCCTCCGCTACATGTTCAGCCGAGACAAGTGAAACGGGAAGGTCCTTTCTTTCCTTCCCAGGGGCCGGGGCCGGAACATGTGCCTCCCGTTCCAGCATCTGGCTGCCCGGGGGAGGAAGGACACCCGGGGCGGGCGCCCCACGCCGATGGGTCCATGGTGAAATAAAAAACAGTGCTCACGGCTGCGTCCCGTATCTCTGCGCCGGTCAGGGCGGGTTCTGATCCGGGTTTGAGGCCCGCCCCACCCTTACTCGATCGCCTGCGCCCACGGGCGAGGGGTCGCGCTCGACTCCAAGCCGGGTTCCACTTCAGGAGACCGGGACCGCGATGGCAGCGGTAGAGGCCCCGCATGGCCGGAAGTCACTCCCCAAAGCGCTGGGCCGGCAGCGGTGGGACCCAGGGCCGGCCACGGGCTCTCTGACGTCACTGGGCGCGACGCCCCGCGCCGGGACTACTGCTCCCAGAAGGTCGCGCGCGGGCCCCCGCCAGTCAGGTGGGTGCCAGGCCCTGGCCGTGGCGAAAGAGCCGGCGGAGCCGGAGACCCGCTCCCGGAGACGCCGCCTCGCGATCCCCGCGCGGGCGGGACCGGGCGGCCGGCATCATGACCCTGTTTCACTTCGGGAACTGCTTCGCTCTTGCCTACTTCCCCTACTTCATCACCTACAAGTGCAGCGGCCTGTGAGTGCGGGAAGGGCGCGGGGCGGAGAGGGCGCGGGGCCCGGGCCGACCCTCACCTCCCGCTTCTCCAGGTCCGAGTACAACGCCTTCTGGAAATGCGTCCAGGCTGGAGTCACCTACCTCTTTGTCCAACTCTGCAAGGTGAGGGCCACCGGGAAGCCACGTGTTCTGGCCCCCAGGCTCTGCAGACCCAGGGACCCGCCCCCGTTGCCTATCCGCGCCCCCGCCGCCCCACGGTGGGACCGCCCTCGGGACTCCGCACTGGGAGGCGTCAGGATACCTAGAGAGGATGGACTTTAAAGAGGGCACGACCTGAGAAGAGACCTAGAAGCAACTTTTGCGTAGCACTTAGTAAAACTGAGAAAACCTCAGTAGTGTGGTTGGCTAACAGGTTTTTTTTGGTGCGGTTAAGAGTGATCACTGATTCCGTACGTGCTGCTAACACTGCCCAAGGAGCAGCACCTTCAGACCTGACTCAGATGCCCTGTGATCACCCAGAACTCAAACTTCCAGCCCCCTCGGGGACCCGGGGACCTATCCTCTATCTCCCCGATTCCTGTAATTTTGCCACCATCTGGTGGTTCCTCTTCCAGATGGGCCCCCAGAACCTGTCCTGCCCTCTTCCTACCCACGAACTTCCCACAAATCCCACGTGGTTTATCTTGATCCCCTCACCTTGAAGTGACCTCTTTCTGCTTTCTGTTCTCAGATGCTGTTCTTGGCCACTTTCTTTCCCACCTGGGAAGGCGGCATCTATGACTTCATTGGGGTGAGAGGGGCCAGGGAAGGGAAGGGAGTTCAGGAATGGGGCTCCCTGTCCCCCTGTGCTTACTTAAGCCTCAACCTGACCCGCAGGAGTTCATGAAGGCCAGCGTGGATGTGGCAGACCTGATAGGTCTAAACCTTGTCATGTCCCGGAATGCCGGCAAGGGAGAGTACAAGATCATGGTTGCTGCCCTGGGCTGGGCCACTGCTGAGCTTATTATGTCCCGGTGCGTACAGCAGCCTGGAGCCCAGACCCCTGAGAAGGGACACCTGGGTTCCACGGGGGTGCTGGAGGGCAGGGGCTCAAAGCCTGGTGCTGAAGGTGTCTGAGTACTGGAGAATCCCATCCTTTGCCTTCCTCAGCTGCATTCCCCTATGGGTCGGAGCCCGGGGCATTGAGTTTGACTGGAAGTACATCCAGATGAGCATAGACTCCAACATCAGTCTGGTAGGCAGTCGTGCTCTCCCACATACACATTTCTGCTGGCGGCCATACTCCTCCCCAAGGCCTGGCCCCGACTTTCTGCCTCCCTCTAGGTCCATTACATCGTCGCGTCTGCTCAGGTCTGGATGATAACACGCTATGATCTGTACCACACCTTCCGGCCAGCTGTCCTCCTGCTGATGTTCCTCAGTGTCTACAAGGCCTTTGTTATGGAGTGAGTTGGGTGGGGTTTAGGGCTGGGTCCAAAGTGGGGTGGGTTATCTAGTCTCCCTTCCTTATTGTGACATTTTCCTGCAGGACCTTCGTCCACCTCTGCTCGCTGGGCAGTTGGGCAGCTCTACTGGCCCGAGCAGTGGTAACGGGGCTGCTGGCCCTCAGCACTTTGGCCCTGTATGTCGCCGTTGTCAATGTGCACTCCTAGGCTTGGTGTCTCAGACATTGATGTACCTTTTCCCTGCCTCACTCCAGGTTTTAGTGAAGTAAACAGTATTTGGAAAGTTGTTGCTGCCTCCATTTCTCTCTCTTGGGAACTGTCTCCCAATACCGTGTCCACCTGGGTCTCAGAGGCCCTGGTTCTGTCTCAGGAGCCAGGTAGACAAGCTGGAAGCTAGCCAGTCACTGACTTGTCCCATGTCTTGTTCCTCAGGCTCCTGGTTTGCCAGGAGTAGACAGAAGGTTTGGATGATCTTTGAGCAGTGGCAGAGGCCAGGGCCCTCAGGGAACAGATGATAGAGGGGAGCTAGAATCCAAGAGAAGGCCCTTGGGGGGCTCTTCCTCCTCACAGCCCCAACCTGGGCCTCCTCACATGGGCCCTTCCCGGGCTGGTTGCCTCTGAGGCTCCTGGCCCCAGTGTCCCCCTCCAATCCATCCTCTGTATGGCAGCCAGGGGATCTATCTGAAACCCGTCTAACCAGGTCATCCTCCCACTTGCAGCCACTTGCGGCCCCTTGTTACACAGTGGACAGTCCAATTGCTTGGCCTTTGGTTTTACCCAACCAGCAAAACCAGCTTTTCTGAAACTGCTCCCTAGAATAATTTGTCCAGCCAGATTCTTAACATCGTTCAAGCCATGGGGTCAGCATGGGGCTGGGGGGAGAGTTGTGACTGTGAGCTCCTCAGTTCTATGGCCCTCAGATCAGATCCCAGCCTGAGCCTTCTCAGGGTGGAGTGGAGAGACAGCTGCAGCCAAGAAGCAGAGCAGTGGGGCCCCCAGCTTGGACATTGTCCTGGATGCCCCCCTCCACCCTCAGCCTTCCTTGGTCCACTGAAGCCGGCTCCCCGCCTTTCTCTGAGGGGGATGTGTCAGAAGTTTTGAATGTCATGTTTAAGCTCCACTTTGATGTACACCCTCCCCACTCAGGAAGATGCTCCCCATCCTTGGTGTTCCCAGTGGGGTACCCCAGGGAGTAGGATAGCACCATTGCCCCTCCTCCTCCACCAGGCCGTTGAAGTTCCACCTGATTTTTTTTAAGCTTAGGCCTAGGAAAGCTCACTATGACCATCTCGATGTTTCCAGAGGGAGCATTTGCCTTCAGACGGCAGCTGCCATCTAGGCCACTCTTCCTCATTGTTTGGAGTAAAGACAGGGTCCATGGGTCTCTTGGGAGCTGGAAGTGATTGATCACCTTGACTTTGATGTAGAAAGGAAGTAGATGGGGCAGTCTATCTGGGTGGACTTGTGACAAGGTCACTTTCTCCCACACTTCCATGCCCCACATAGCTCTTCACACATATTGAGACAAGTGTAGGATGCAAAATTACCAACTGGAATAATCCCAGCTTACATGGGGTTCAGGGAGAGAGACTGGAGTGGCTGGGCCTGAGTTGGCAGAGGACGGTGAAGCCTGGGCGGTTGGACTGTGGGGAGCCAGGCTTCAGGTGATCGGGGTTATGATGGGAAAACCCCGGGTTATGGGGACCCAGAGGAGCCGCCTGGCCTGCCGTGGAAGCAGTGCGGGCTCCCCTGAGCAGAGGACATGTGAGCTGAGACCTAAAGAATGAGTGATTGGGGCAAGGCAG 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CTTCGATGCTAAGGCCGGCATTGCGCTCAATGACAATTTCGTGAAGCTCATTTCATGGTAAGGGGGAAGGAGCTGGAGACTTAGAGGGAGGGGAACTAAGGGGTGGTCGGAAGGAACCCCCTTGAACCTCCCGACCCCTCCTCCACAGGTACGACAACGAATATGGCTACAGTCACCGGGTGGTCGACCTCCTCCGCTACATGTTCAGCCGAGACAAGTGAAACGGGAAGGTCCTTTCTTTCCTTCCCAGGGGCCGGGGCCGGAACATGTGCCTCCCGTTCCAGCATCTGGCTGCCCGGGGGAGGAAGGACACCCGGGGCGGGCGCCCCACGCCGATGGGTCCATGGTGAAATAAAAAACAGTGCTCACGGCTGCGTCCCGTATCTCTGCGCCGGTCAGGGCGGGTTCTGATCCGGGTTTGAGGCCCGCCCCACCCTTACTCGATCGCCTGCGCCCACGGGCGAGGGGTCGCGCTCGACTCCAAGCCGGGTTCCACTTCAGGAGACCGGGACCGCGATGGCAGCGGTAGAGGCCCCGCATGGCCGGAAGTCACTCCCCAAAGCGCTGGGCCGGCAGCGGTGGGACCCAGGGCCGGCCACGGGCTCTCTGACGTCACTGGGCGCGACGCCCCGCGCCGGGACTACTGCTCCCAGAAGGTCGCGCGCGGGCCCCCGCCAGTCAGGTGGGTGCCAGGCCCTGGCCGTGGCGAAAGAGCCGGCGGAGCCGGAGACCCGCTCCCGGAGACGCCGCCTCGCGATCCCCGCGCGGGCGGGACCGGGCGGCCGGCATCATGACCCTGTTTCACTTCGGGAACTGCTTCGCTCTTGCCTACTTCCCCTACTTCATCACCTACAAGTGCAGCGGCCTGTGAGTGCGGGAAGGGCGCGGGGCGGAGAGGGCGCGGGGCCCGGGCCGACCCTCACCTCCCGCTTCTCCAGGTCCGAGTACAACGCCTTCTGGAAATGCGTCCAGGCTGGAGTCACCTACCTCTTTGTCCAACTCTGCAAGGTGAGGGCCACCGGGAAGCCACGTGTTCTGGCCCCCAGGCTCTGCAGACCCAGGGACCCGCCCCCGTTGCCTATCCGCGCCCCCGCCGCCCCACGGTGGGACCGCCCTCGGGACTCCGCACTGGGAGGCGTCAGGATACCTAGAGAGGATGGACTTTAAAGAGGGCACGACCTGAGAAGAGACCTAGAAGCAACTTTTGCGTAGCACTTAGTAAAACTGAGAAAACCTCAGTAGTGTGGTTGGCTAACAGGTTTTTTTTGGTGCGGTTAAGAGTGATCACTGATTCCGTACGTGCTGCTAACACTGCCCAAGGAGCAGCACCTTCAGACCTGACTCAGATGCCCTGTGATCACCCAGAACTCAAACTTCCAGCCCCCTCGGGGACCCGGGGACCTATCCTCTATCTCCCCGATTCCTGTAATTTTGCCACCATCTGGTGGTTCCTCTTCCAGATGGGCCCCCAGAACCTGTCCTGCCCTCTTCCTACCCACGAACTTCCCACAAATCCCACGTGGTTTATCTTGATCCCCTCACCTTGAAGTGACCTCTTTCTGCTTTCTGTTCTCAGATGCTGTTCTTGGCCACTTTCTTTCCCACCTGGGAAGGCGGCATCTATGACTTCATTGGGGTGAGAGGGGCCAGGGAAGGGAAGGGAGTTCAGGAATGGGGCTCCCTGTCCCCCTGTGCTTACTTAAGCCTCAACCTGACCCGCAGGAGTTCATGAAGGCCAGCGTGGATGTGGCAGACCTGATAGGTCTAAACCTTGTCATGTCCCGGAATGCCGGCAAGGGAGAGTACAAGATCATGGTTGCTGCCCTGGGCTGGGCCACTGCTGAGCTTATTATGTCCCGGTGCGTACAGCAGCCTGGAGCCCAGACCCCTGAGAAGGGACACCTGGGTTCCACGGGGGTGCTGGAGGGCAGGGGCTCAAAGCCTGGTGCTGAAGGTGTCTGAGTACTGGAGAATCCCATCCTTTGCCTTCCTCAGCTGCATTCCCCTATGGGTCGGAGCCCGGGGCATTGAGTTTGACTGGAAGTACAACCAGATGAGCATAGACTCCAACATCAGTCTGGTAGGCAGTCGTGCTCTCCCACATACACATTTCTGCTGGCGGCCATACTCCTCCCCAAGGCCTGGCCCCGACTTTCTGCCTCCCTCTAGGTCCATTACATCGTCGCGTCTGCTCAGGTCTGGATGATAACACGCTATGATCTGTACCACACCTTCCGGCCAGCTGTCCTCCTGCTGATGTTCCTCAGTGTCTACAAGGCCTTTGTTATGGAGTGAGTTGGGTGGGGTTTAGGGCTGGGTCCAAAGTGGGGTGGGTTATCTAGTCTCCCTTCCTTATTGTGACATTTTCCTGCAGGACCTTCGTCCACCTCTGCTCGCTGGGCAGTTGGGCAGCTCTACTGGCCCGAGCAGTGGTAACGGGGCTGCTGGCCCTCAGCACTTTGGCCCTGTATGTCGCCGTTGTCAATGTGCACTCCTAGGCTTGGTGTCTCAGACATTGATGTACCTTTTCCCTGCCTCACTCCAGGTTTTAGTGAAGTAAACAGTATTTGGAAAGTTGTTGCTGCCTCCATTTCTCTCTCTTGGGAACTGTCTCCCAATACCGTGTCCACCTGGGTCTCAGAGGCCCTGGTTCTGTCTCAGGAGCCAGGTAGACAAGCTGGAAGCTAGCCAGTCACTGACTTGTCCCATGTCTTGTTCCTCAGGCTCCTGGTTTGCCAGGAGTAGACAGAAGGTTTGGATGATCTTTGAGCAGTGGCAGAGGCCAGGGCCCTCAGGGAACAGATGATAGAGGGGAGCTAGAATCCAAGAGAAGGCCCTTGGGGGGCTCTTCCTCCTCACAGCCCCAACCTGGGCCTCCTCACATGGGCCCTTCCCGGGCTGGTTGCCTCTGAGGCTCCTGGCCCCAGTGTCCCCCTCCAATCCATCCTCTGTATGGCAGCCAGGGGATCTATCTGAAACCCGTCTAACCAGGTCATCCTCCCACTTGCAGCCACTTGCGGCCCCTTGTTACACAGTGGACAGTCCAATTGCTTGGCCTTTGGTTTTACCCAACCAGCAAAACCAGCTTTTCTGAAACTGCTCCCTAGAATAATTTGTCCAGCCAGATTCTTAACATCGTTCAAGCCATGGGGTCAGCATGGGGCTGGGGGGAGAGTTGTGACTGTGAGCTCCTCAGTTCTATGGCCCTCAGATCAGATCCCAGCCTGAGCCTTCTCAGGGTGGAGTGGAGAGACAGCTGCAGCCAAGAAGCAGAGCAGTGGGGCCCCCAGCTTGGACATTGTCCTGGATGCCCCCCTCCACCCTCAGCCTTCCTTGGTCCACTGAAGCCGGCTCCCCGCCTTTCTCTGAGGGGGATGTGTCAGAAGTTTTGAATGTCATGTTTAAGCTCCACTTTGATGTACACCCTCCCCACTCAGGAAGATGCTCCCCATCCTTGGTGTTCCCAGTGGGGTACCCCAGGGAGTAGGATAGCACCATTGCCCCTCCTCCTCCACCAGGCCGTTGAAGTTCCACCTGATTTTTTTTAAGCTTAGGCCTAGGAAAGCTCACTATGACCATCTCGATGTTTCCAGAGGGAGCATTTGCCTTCAGACGGCAGCTGCCATCTAGGCCACTCTTCCTCATTGTTTGGAGTAAAGACAGGGTCCATGGGTCTCTTGGGAGCTGGAAGTGATTGATCACCTTGACTTTGATGTAGAAAGGAAGTAGATGGGGCAGTCTATCTGGGTGGACTTGTGACAAGGTCACTTTCTCCCACACTTCCATGCCCCACATAGCTCTTCACACATATTGAGACAAGTGTAGGATGCAAAATTACCAACTGGAATAATCCCAGCTTACATGGGGTTCAGGGAGAGAGACTGGAGTGGCTGGGCCTGAGTTGGCAGAGGACGGTGAAGCCTGGGCGGTTGGACTGTGGGGAGCCAGGCTTCAGGTGATCGGGGTTATGATGGGAAAACCCCGGGTTATGGGGACCCAGAGGAGCCGCCTGGCCTGCCGTGGAAGCAGTGCGGGCTCCCCTGAGCAGAGGACATGTGAGCTGAGACCTAAAGAATGAGTGATTGGGGCAAGGCAG 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Task1_train_27039 | A mutation in TMEM147 (transmembrane protein 147), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | CCTCCTCCGCTACATGTTCAGCCGAGACAAGTGAAACGGGAAGGTCCTTTCTTTCCTTCCCAGGGGCCGGGGCCGGAACATGTGCCTCCCGTTCCAGCATCTGGCTGCCCGGGGGAGGAAGGACACCCGGGGCGGGCGCCCCACGCCGATGGGTCCATGGTGAAATAAAAAACAGTGCTCACGGCTGCGTCCCGTATCTCTGCGCCGGTCAGGGCGGGTTCTGATCCGGGTTTGAGGCCCGCCCCACCCTTACTCGATCGCCTGCGCCCACGGGCGAGGGGTCGCGCTCGACTCCAAGCCGGGTTCCACTTCAGGAGACCGGGACCGCGATGGCAGCGGTAGAGGCCCCGCATGGCCGGAAGTCACTCCCCAAAGCGCTGGGCCGGCAGCGGTGGGACCCAGGGCCGGCCACGGGCTCTCTGACGTCACTGGGCGCGACGCCCCGCGCCGGGACTACTGCTCCCAGAAGGTCGCGCGCGGGCCCCCGCCAGTCAGGTGGGTGCCAGGCCCTGGCCGTGGCGAAAGAGCCGGCGGAGCCGGAGACCCGCTCCCGGAGACGCCGCCTCGCGATCCCCGCGCGGGCGGGACCGGGCGGCCGGCATCATGACCCTGTTTCACTTCGGGAACTGCTTCGCTCTTGCCTACTTCCCCTACTTCATCACCTACAAGTGCAGCGGCCTGTGAGTGCGGGAAGGGCGCGGGGCGGAGAGGGCGCGGGGCCCGGGCCGACCCTCACCTCCCGCTTCTCCAGGTCCGAGTACAACGCCTTCTGGAAATGCGTCCAGGCTGGAGTCACCTACCTCTTTGTCCAACTCTGCAAGGTGAGGGCCACCGGGAAGCCACGTGTTCTGGCCCCCAGGCTCTGCAGACCCAGGGACCCGCCCCCGTTGCCTATCCGCGCCCCCGCCGCCCCACGGTGGGACCGCCCTCGGGACTCCGCACTGGGAGGCGTCAGGATACCTAGAGAGGATGGACTTTAAAGAGGGCACGACCTGAGAAGAGACCTAGAAGCAACTTTTGCGTAGCACTTAGTAAAACTGAGAAAACCTCAGTAGTGTGGTTGGCTAACAGGTTTTTTTTGGTGCGGTTAAGAGTGATCACTGATTCCGTACGTGCTGCTAACACTGCCCAAGGAGCAGCACCTTCAGACCTGACTCAGATGCCCTGTGATCACCCAGAACTCAAACTTCCAGCCCCCTCGGGGACCCGGGGACCTATCCTCTATCTCCCCGATTCCTGTAATTTTGCCACCATCTGGTGGTTCCTCTTCCAGATGGGCCCCCAGAACCTGTCCTGCCCTCTTCCTACCCACGAACTTCCCACAAATCCCACGTGGTTTATCTTGATCCCCTCACCTTGAAGTGACCTCTTTCTGCTTTCTGTTCTCAGATGCTGTTCTTGGCCACTTTCTTTCCCACCTGGGAAGGCGGCATCTATGACTTCATTGGGGTGAGAGGGGCCAGGGAAGGGAAGGGAGTTCAGGAATGGGGCTCCCTGTCCCCCTGTGCTTACTTAAGCCTCAACCTGACCCGCAGGAGTTCATGAAGGCCAGCGTGGATGTGGCAGACCTGATAGGTCTAAACCTTGTCATGTCCCGGAATGCCGGCAAGGGAGAGTACAAGATCATGGTTGCTGCCCTGGGCTGGGCCACTGCTGAGCTTATTATGTCCCGGTGCGTACAGCAGCCTGGAGCCCAGACCCCTGAGAAGGGACACCTGGGTTCCACGGGGGTGCTGGAGGGCAGGGGCTCAAAGCCTGGTGCTGAAGGTGTCTGAGTACTGGAGAATCCCATCCTTTGCCTTCCTCAGCTGCATTCCCCTATGGGTCGGAGCCCGGGGCATTGAGTTTGACTGGAAGTACATCCAGATGAGCATAGACTCCAACATCAGTCTGGTAGGCAGTCGTGCTCTCCCACATACACATTTCTGCTGGCGGCCATACTCCTCCCCAAGGCCTGGCCCCGACTTTCTGCCTCCCTCTAGGTCCATTACATCGTCGCGTCTGCTCAGGTCTGGATGATAACACGCTATGATCTGTACCACACCTTCCGGCCAGCTGTCCTCCTGCTGATGTTCCTCAGTGTCTACAAGGCCTTTGTTATGGAGTGAGTTGGGTGGGGTTTAGGGCTGGGTCCAAAGTGGGGTGGGTTATCTAGTCTCCCTTCCTTATTGTGACATTTTCCTGCAGGACCTTCGTCCACCTCTGCTCGCTGGGCAGTTGGGCAGCTCTACTGGCCCGAGCAGTGGTAACGGGGCTGCTGGCCCTCAGCACTTTGGCCCTGTATGTCGCCGTTGTCAATGTGCACTCCTAGGCTTGGTGTCTCAGACATTGATGTACCTTTTCCCTGCCTCACTCCAGGTTTTAGTGAAGTAAACAGTATTTGGAAAGTTGTTGCTGCCTCCATTTCTCTCTCTTGGGAACTGTCTCCCAATACCGTGTCCACCTGGGTCTCAGAGGCCCTGGTTCTGTCTCAGGAGCCAGGTAGACAAGCTGGAAGCTAGCCAGTCACTGACTTGTCCCATGTCTTGTTCCTCAGGCTCCTGGTTTGCCAGGAGTAGACAGAAGGTTTGGATGATCTTTGAGCAGTGGCAGAGGCCAGGGCCCTCAGGGAACAGATGATAGAGGGGAGCTAGAATCCAAGAGAAGGCCCTTGGGGGGCTCTTCCTCCTCACAGCCCCAACCTGGGCCTCCTCACATGGGCCCTTCCCGGGCTGGTTGCCTCTGAGGCTCCTGGCCCCAGTGTCCCCCTCCAATCCATCCTCTGTATGGCAGCCAGGGGATCTATCTGAAACCCGTCTAACCAGGTCATCCTCCCACTTGCAGCCACTTGCGGCCCCTTGTTACACAGTGGACAGTCCAATTGCTTGGCCTTTGGTTTTACCCAACCAGCAAAACCAGCTTTTCTGAAACTGCTCCCTAGAATAATTTGTCCAGCCAGATTCTTAACATCGTTCAAGCCATGGGGTCAGCATGGGGCTGGGGGGAGAGTTGTGACTGTGAGCTCCTCAGTTCTATGGCCCTCAGATCAGATCCCAGCCTGAGCCTTCTCAGGGTGGAGTGGAGAGACAGCTGCAGCCAAGAAGCAGAGCAGTGGGGCCCCCAGCTTGGACATTGTCCTGGATGCCCCCCTCCACCCTCAGCCTTCCTTGGTCCACTGAAGCCGGCTCCCCGCCTTTCTCTGAGGGGGATGTGTCAGAAGTTTTGAATGTCATGTTTAAGCTCCACTTTGATGTACACCCTCCCCACTCAGGAAGATGCTCCCCATCCTTGGTGTTCCCAGTGGGGTACCCCAGGGAGTAGGATAGCACCATTGCCCCTCCTCCTCCACCAGGCCGTTGAAGTTCCACCTGATTTTTTTTAAGCTTAGGCCTAGGAAAGCTCACTATGACCATCTCGATGTTTCCAGAGGGAGCATTTGCCTTCAGACGGCAGCTGCCATCTAGGCCACTCTTCCTCATTGTTTGGAGTAAAGACAGGGTCCATGGGTCTCTTGGGAGCTGGAAGTGATTGATCACCTTGACTTTGATGTAGAAAGGAAGTAGATGGGGCAGTCTATCTGGGTGGACTTGTGACAAGGTCACTTTCTCCCACACTTCCATGCCCCACATAGCTCTTCACACATATTGAGACAAGTGTAGGATGCAAAATTACCAACTGGAATAATCCCAGCTTACATGGGGTTCAGGGAGAGAGACTGGAGTGGCTGGGCCTGAGTTGGCAGAGGACGGTGAAGCCTGGGCGGTTGGACTGTGGGGAGCCAGGCTTCAGGTGATCGGGGTTATGATGGGAAAACCCCGGGTTATGGGGACCCAGAGGAGCCGCCTGGCCTGCCGTGGAAGCAGTGCGGGCTCCCCTGAGCAGAGGACATGTGAGCTGAGACCTAAAGAATGAGTGATTGGGGCAAGGCAGAGGTAATGGTCTTGAGGTCAGAGAGGGGGCCTGTTTTTCCCAAGGGAACATAACTGGTTGGAATGAGTTCAAGGGGACTTGTAAGACTACAGAAGCTGGCAGGGGTCAGATCACAGGAGGCTTTGGGAACCAAGGAGAGCTCTAGGCAGAGGAAGGACAGGGTCAGATTTGGCTTTAGGAAGCTCTG 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CCTCCTCCGCTACATGTTCAGCCGAGACAAGTGAAACGGGAAGGTCCTTTCTTTCCTTCCCAGGGGCCGGGGCCGGAACATGTGCCTCCCGTTCCAGCATCTGGCTGCCCGGGGGAGGAAGGACACCCGGGGCGGGCGCCCCACGCCGATGGGTCCATGGTGAAATAAAAAACAGTGCTCACGGCTGCGTCCCGTATCTCTGCGCCGGTCAGGGCGGGTTCTGATCCGGGTTTGAGGCCCGCCCCACCCTTACTCGATCGCCTGCGCCCACGGGCGAGGGGTCGCGCTCGACTCCAAGCCGGGTTCCACTTCAGGAGACCGGGACCGCGATGGCAGCGGTAGAGGCCCCGCATGGCCGGAAGTCACTCCCCAAAGCGCTGGGCCGGCAGCGGTGGGACCCAGGGCCGGCCACGGGCTCTCTGACGTCACTGGGCGCGACGCCCCGCGCCGGGACTACTGCTCCCAGAAGGTCGCGCGCGGGCCCCCGCCAGTCAGGTGGGTGCCAGGCCCTGGCCGTGGCGAAAGAGCCGGCGGAGCCGGAGACCCGCTCCCGGAGACGCCGCCTCGCGATCCCCGCGCGGGCGGGACCGGGCGGCCGGCATCATGACCCTGTTTCACTTCGGGAACTGCTTCGCTCTTGCCTACTTCCCCTACTTCATCACCTACAAGTGCAGCGGCCTGTGAGTGCGGGAAGGGCGCGGGGCGGAGAGGGCGCGGGGCCCGGGCCGACCCTCACCTCCCGCTTCTCCAGGTCCGAGTACAACGCCTTCTGGAAATGCGTCCAGGCTGGAGTCACCTACCTCTTTGTCCAACTCTGCAAGGTGAGGGCCACCGGGAAGCCACGTGTTCTGGCCCCCAGGCTCTGCAGACCCAGGGACCCGCCCCCGTTGCCTATCCGCGCCCCCGCCGCCCCACGGTGGGACCGCCCTCGGGACTCCGCACTGGGAGGCGTCAGGATACCTAGAGAGGATGGACTTTAAAGAGGGCACGACCTGAGAAGAGACCTAGAAGCAACTTTTGCGTAGCACTTAGTAAAACTGAGAAAACCTCAGTAGTGTGGTTGGCTAACAGGTTTTTTTTGGTGCGGTTAAGAGTGATCACTGATTCCGTACGTGCTGCTAACACTGCCCAAGGAGCAGCACCTTCAGACCTGACTCAGATGCCCTGTGATCACCCAGAACTCAAACTTCCAGCCCCCTCGGGGACCCGGGGACCTATCCTCTATCTCCCCGATTCCTGTAATTTTGCCACCATCTGGTGGTTCCTCTTCCAGATGGGCCCCCAGAACCTGTCCTGCCCTCTTCCTACCCACGAACTTCCCACAAATCCCACGTGGTTTATCTTGATCCCCTCACCTTGAAGTGACCTCTTTCTGCTTTCTGTTCTCAGATGCTGTTCTTGGCCACTTTCTTTCCCACCTGGGAAGGCGGCATCTATGACTTCATTGGGGTGAGAGGGGCCAGGGAAGGGAAGGGAGTTCAGGAATGGGGCTCCCTGTCCCCCTGTGCTTACTTAAGCCTCAACCTGACCCGCAGGAGTTCATGAAGGCCAGCGTGGATGTGGCAGACCTGATAGGTCTAAACCTTGTCATGTCCCGGAATGCCGGCAAGGGAGAGTACAAGATCATGGTTGCTGCCCTGGGCTGGGCCACTGCTGAGCTTATTATGTCCCGGTGCGTACAGCAGCCTGGAGCCCAGACCCCTGAGAAGGGACACCTGGGTTCCACGGGGGTGCTGGAGGGCAGGGGCTCAAAGCCTGGTGCTGAAGGTGTCTGAGTACTGGAGAATCCCATCCTTTGCCTTCCTCAGCTGCATTCCCCTATGGGTCGGAGCCCGGGGCATTGAGTTTGACTGGAAGTACATCCAGATGAGCATAGACTCCAACATCAGTCTGGTAGGCAGTCGTGCTCTCCCACATACACATTTCTGCTGGCGGCCATACTCCTCCCCAAGGCCTGGCCCCGACTTTCTGCCTCCCTCTAGGTCCATTACATCGTCGCGTCTGCTCAGGTCTGGATGATAACACGCTATGATCTGTACCACACCTTCTGGCCAGCTGTCCTCCTGCTGATGTTCCTCAGTGTCTACAAGGCCTTTGTTATGGAGTGAGTTGGGTGGGGTTTAGGGCTGGGTCCAAAGTGGGGTGGGTTATCTAGTCTCCCTTCCTTATTGTGACATTTTCCTGCAGGACCTTCGTCCACCTCTGCTCGCTGGGCAGTTGGGCAGCTCTACTGGCCCGAGCAGTGGTAACGGGGCTGCTGGCCCTCAGCACTTTGGCCCTGTATGTCGCCGTTGTCAATGTGCACTCCTAGGCTTGGTGTCTCAGACATTGATGTACCTTTTCCCTGCCTCACTCCAGGTTTTAGTGAAGTAAACAGTATTTGGAAAGTTGTTGCTGCCTCCATTTCTCTCTCTTGGGAACTGTCTCCCAATACCGTGTCCACCTGGGTCTCAGAGGCCCTGGTTCTGTCTCAGGAGCCAGGTAGACAAGCTGGAAGCTAGCCAGTCACTGACTTGTCCCATGTCTTGTTCCTCAGGCTCCTGGTTTGCCAGGAGTAGACAGAAGGTTTGGATGATCTTTGAGCAGTGGCAGAGGCCAGGGCCCTCAGGGAACAGATGATAGAGGGGAGCTAGAATCCAAGAGAAGGCCCTTGGGGGGCTCTTCCTCCTCACAGCCCCAACCTGGGCCTCCTCACATGGGCCCTTCCCGGGCTGGTTGCCTCTGAGGCTCCTGGCCCCAGTGTCCCCCTCCAATCCATCCTCTGTATGGCAGCCAGGGGATCTATCTGAAACCCGTCTAACCAGGTCATCCTCCCACTTGCAGCCACTTGCGGCCCCTTGTTACACAGTGGACAGTCCAATTGCTTGGCCTTTGGTTTTACCCAACCAGCAAAACCAGCTTTTCTGAAACTGCTCCCTAGAATAATTTGTCCAGCCAGATTCTTAACATCGTTCAAGCCATGGGGTCAGCATGGGGCTGGGGGGAGAGTTGTGACTGTGAGCTCCTCAGTTCTATGGCCCTCAGATCAGATCCCAGCCTGAGCCTTCTCAGGGTGGAGTGGAGAGACAGCTGCAGCCAAGAAGCAGAGCAGTGGGGCCCCCAGCTTGGACATTGTCCTGGATGCCCCCCTCCACCCTCAGCCTTCCTTGGTCCACTGAAGCCGGCTCCCCGCCTTTCTCTGAGGGGGATGTGTCAGAAGTTTTGAATGTCATGTTTAAGCTCCACTTTGATGTACACCCTCCCCACTCAGGAAGATGCTCCCCATCCTTGGTGTTCCCAGTGGGGTACCCCAGGGAGTAGGATAGCACCATTGCCCCTCCTCCTCCACCAGGCCGTTGAAGTTCCACCTGATTTTTTTTAAGCTTAGGCCTAGGAAAGCTCACTATGACCATCTCGATGTTTCCAGAGGGAGCATTTGCCTTCAGACGGCAGCTGCCATCTAGGCCACTCTTCCTCATTGTTTGGAGTAAAGACAGGGTCCATGGGTCTCTTGGGAGCTGGAAGTGATTGATCACCTTGACTTTGATGTAGAAAGGAAGTAGATGGGGCAGTCTATCTGGGTGGACTTGTGACAAGGTCACTTTCTCCCACACTTCCATGCCCCACATAGCTCTTCACACATATTGAGACAAGTGTAGGATGCAAAATTACCAACTGGAATAATCCCAGCTTACATGGGGTTCAGGGAGAGAGACTGGAGTGGCTGGGCCTGAGTTGGCAGAGGACGGTGAAGCCTGGGCGGTTGGACTGTGGGGAGCCAGGCTTCAGGTGATCGGGGTTATGATGGGAAAACCCCGGGTTATGGGGACCCAGAGGAGCCGCCTGGCCTGCCGTGGAAGCAGTGCGGGCTCCCCTGAGCAGAGGACATGTGAGCTGAGACCTAAAGAATGAGTGATTGGGGCAAGGCAGAGGTAATGGTCTTGAGGTCAGAGAGGGGGCCTGTTTTTCCCAAGGGAACATAACTGGTTGGAATGAGTTCAAGGGGACTTGTAAGACTACAGAAGCTGGCAGGGGTCAGATCACAGGAGGCTTTGGGAACCAAGGAGAGCTCTAGGCAGAGGAAGGACAGGGTCAGATTTGGCTTTAGGAAGCTCTG 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Task1_train_27040 | This sequence variant lies in COX6B1 (cytochrome c oxidase subunit 6B1) on Chromosome 19. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Mitochondrial complex 4 deficiency, nuclear type 7 | GCAACCTCGGTAGTACTAGCAGCAGCGGTGATTTTGTTAGCAATGAAAATCATAGACATTCCTTTTTTTTGTTTTTCTCCTTTTTTGAGACAGGGTCACTGTGTCACCCAGGCTGGCGTGCAGTGGAGAAATCTTGGCTCACTGCAACCTCTGCTTCCCTGTGCAAGCGATCCTGCCTCAGTAGCTGGGACCACAGGCACGCGCCACCACACCTGGCTAATTTTAATTTTTTTTTTTTTTTTTGAGACAAGATCTTGCTGTATCGCCCAGGCTGGAGTACAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCTTGGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCTGGTAGCTGGGATTACAGGTGCACGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAAGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCTCTTCCGGCCAATTTTAATATTTTTTTTGTAGAGATGAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATCCTCCCACCTCAGCATTCCAAAGTGCTGGGATTACAGGTGTGAACCATTGTGCTCCACCCAAAATCACAGGTATTCTTATACCACATTATAACAGCAAATGTCACAAAATACTATATTCATTCATGATTACTTCAAAATTGTATTTTTTTTTTTTTTTGAGACAGTGTTTTTGCTCTGTTGCCCAGGTTGGAGTGCACTGGCACAATCTCGGCTCACTACAACCTCCGCCTCCTGGGTTTAAGCGATTCTTTTGCCTCAACATCCAGAGTAGCTGGGATTATAGGCACCTGCCACCACACCCAGCTGATTTTTATATTTTTAGTAGAGCCAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCCCCTGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCACCCGGCGAAAATTGTATTCCTTAATGAATCCTCAGCTGGATATAACTGCTTTTCTTTGTGATGCTGTGCAGGTTTTTTTCACTTCATGTACTCATGGAGCCTATGCAATTTTTAAATACATTTAAACATATTCAGGCCGGGTTTGGTGTCTCCGTTCTGTAATCTCAACATTTTGGGAGGCCAAGCCGGGCAGATCATTTGAGGTCAGAAGTTGGAGAGCAGTCTGACCAACATGGTAAAACCTTGTCTAAAATACAAAAAAATTAGCAGGGCATGGTGGCAGGCGCCTGTAATCTCAGCTGTTCGGGAGGCTGAGGCAACAGAATTGCTTGAATCTTGGAGGCGGAGTTTGCAGTGAGCCTAGGTCGTACCAGTGAGCCTGGGTGACAGAGCAAGACTCTGTCTTAAAAAAAGAAAAAAAAAAACATTCAGCGAGAGGTTTCTGGGATTCATCAGACTGCTGAGGAGTTTGTGGCACCAAAAAGATTAAGAATCTTTGCAGTGTAGATTATGCCAACAACGGAGGCAGCCCACCAGTTATTTTTATGCCGTTTAACCGTAGGAAGTCACTTAGACACCCTGTTCCTTCCTCGTCTGGGCAATGGTGATAGTAATAGTTCCTACCTTTTAGAGTGGCTATAGGAGTAAAGTGTGTAGAACAGCGCCTGGCATGTAGTAAGCACTCAGTGAGTGTTAGCTCATGTTATTTGGGGACCAGGCTTGATTTTGCTGAGGAGTTGTACCCCAACCCTGCCGCGACCTCGACACTCAGATGTGTGGATTCGCCCTGCCCCTCATCTCTGTGTATGTTGAGAGGCAGGAACTTGTTCACACCCAGCCCATTGTTCCGTGCCTGCCCTCTTCCATTGATCCTGGGTAGTCTGGCTTGCTCAGGGCCCCTGGGGCCCCTGCTGACACCCACTCCTTTCGCCTCCAGGATTCAGCACCATGGCGGAAGACATGGAGACCAAAATCAAGAACTACAAGACCGCCCCTTTTGACAGCCGCTTCCCCAACCAGAACCAGACTAGAAACTGCTGGCAGAACTACCTGGGTAAGCAGGACCTTTCCCTGGCCACATACCTCGAGTCACTCACCGCTTGCCTCTTCCTAGGGGACCCATCCACCCCAGCCTCCTCCCTTTTATTCTGAACATCCTTACTCTGGAAGGCCCATGCCTCTCATCACCTGCTGTTCAGGTCCAGGCTAGGGTTACAAACTTTAGTTCCTGCAATGATTTTTTTTTTAATTTAAATTTTTTATTATTATTATGGTTTGGTTTTGTTTTTTTCCAGAGATGGGGTCTCACTTTGTCACCTAGGCTGGAGTGCAGTGGTGCAATCATAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGAGGTCCCCCTACCTCAGCCTCTCGAGTAGCTGGGACCACAGGCCCACACTACTGTACTTGGCTAATTTTTTTGTAGAGAAGAGGTCTCAGTTTGTTGCCCAGGCTGGTCTCAAACTCTTGGCTTCATGCGCTCTTCCTGCCTCAGCTTCTCAAAGTGTTGGGATTATAGGTGTGAGCCACCGTGCCTGGCCCCTACAATGATTTTTTTTTAAGCTGTATGTGTGTGCGTACTGTAACATGTACAGAAAGCACATAACAAACATGTACAGCTAAATGAATAATTCTAAAGTGAACCCCTTGTGCAACCATAACCTGGAGAGAAAAGCAGACATTGCCCACACTCTCATCTCCCTGCCTTCTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGTCCCCCAAGTAGCTGGGATTACAGGCACCTGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTCCCCACCTTCTTTATGTCCTGTCTGGAACACAGCACCCCGCTCTCCCCAGTAGAGAAGTGACGCCACTAACTGGGGGTTATCACATCTTTGTTTTTGGTTTTGGTTTTTGTTTTTGAGACTGAGTTTTTTGTTTTCGTTGCCCAGGCTGGAGTGCAATGTCACGATCTCGGCTCACTGCAACCTCTTCTGCCTGCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCACTAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTTTTTTTTTTTAGTAAAGACAAGGTTTCACCATGTTGATCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACTGTGCCCGGCCTCACATCTTTGTTTTTTACCACCATGTTTATTATTTTATTTTATTTTATATATGTTATGTTGTTATGTTATTGATGGAGTCTGTTTCTTGTTGCCCAAGTTGGAGTGCAATGGCACGATCTCAGCTCATTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAATACAGGCGCTCGCCACCACACCCAGCTAATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTTTGTCGCCCAGGTTGGAGTGCAGTGGTGCAATCTCGACTCACTGCAACCTCCGCCTCCCAGCTTCAAGCACTTCTCTGCCTCAGCCTGCCGAGTAGCTGGGATTACAGTCGCCTGCCACCATGCCTGGCTAATTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTTACCATCTTGGCCAGGCTGGTCTTAAACTCCTGACCTCGTGATCCACCCCCCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACCATGCCTGGCCAATTTTATTTATTTATTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTACAACCTTGGCTCACT 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GCAACCTCGGTAGTACTAGCAGCAGCGGTGATTTTGTTAGCAATGAAAATCATAGACATTCCTTTTTTTTGTTTTTCTCCTTTTTTGAGACAGGGTCACTGTGTCACCCAGGCTGGCGTGCAGTGGAGAAATCTTGGCTCACTGCAACCTCTGCTTCCCTGTGCAAGCGATCCTGCCTCAGTAGCTGGGACCACAGGCACGCGCCACCACACCTGGCTAATTTTAATTTTTTTTTTTTTTTTTGAGACAAGATCTTGCTGTATCGCCCAGGCTGGAGTACAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCTTGGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCTGGTAGCTGGGATTACAGGTGCACGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAAGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCTCTTCCGGCCAATTTTAATATTTTTTTTGTAGAGATGAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATCCTCCCACCTCAGCATTCCAAAGTGCTGGGATTACAGGTGTGAACCATTGTGCTCCACCCAAAATCACAGGTATTCTTATACCACATTATAACAGCAAATGTCACAAAATACTATATTCATTCATGATTACTTCAAAATTGTATTTTTTTTTTTTTTTGAGACAGTGTTTTTGCTCTGTTGCCCAGGTTGGAGTGCACTGGCACAATCTCGGCTCACTACAACCTCCGCCTCCTGGGTTTAAGCGATTCTTTTGCCTCAACATCCAGAGTAGCTGGGATTATAGGCACCTGCCACCACACCCAGCTGATTTTTATATTTTTAGTAGAGCCAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCCCCTGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCACCCGGCGAAAATTGTATTCCTTAATGAATCCTCAGCTGGATATAACTGCTTTTCTTTGTGATGCTGTGCAGGTTTTTTTCACTTCATGTACTCATGGAGCCTATGCAATTTTTAAATACATTTAAACATATTCAGGCCGGGTTTGGTGTCTCCGTTCTGTAATCTCAACATTTTGGGAGGCCAAGCCGGGCAGATCATTTGAGGTCAGAAGTTGGAGAGCAGTCTGACCAACATGGTAAAACCTTGTCTAAAATACAAAAAAATTAGCAGGGCATGGTGGCAGGCGCCTGTAATCTCAGCTGTTCGGGAGGCTGAGGCAACAGAATTGCTTGAATCTTGGAGGCGGAGTTTGCAGTGAGCCTAGGTCGTACCAGTGAGCCTGGGTGACAGAGCAAGACTCTGTCTTAAAAAAAGAAAAAAAAAAACATTCAGCGAGAGGTTTCTGGGATTCATCAGACTGCTGAGGAGTTTGTGGCACCAAAAAGATTAAGAATCTTTGCAGTGTAGATTATGCCAACAACGGAGGCAGCCCACCAGTTATTTTTATGCCGTTTAACCGTAGGAAGTCACTTAGACACCCTGTTCCTTCCTCGTCTGGGCAATGGTGATAGTAATAGTTCCTACCTTTTAGAGTGGCTATAGGAGTAAAGTGTGTAGAACAGCGCCTGGCATGTAGTAAGCACTCAGTGAGTGTTAGCTCATGTTATTTGGGGACCAGGCTTGATTTTGCTGAGGAGTTGTACCCCAACCCTGCCGCGACCTCGACACTCAGATGTGTGGATTCGCCCTGCCCCTCATCTCTGTGTATGTTGAGAGGCAGGAACTTGTTCACACCCAGCCCATTGTTCCGTGCCTGCCCTCTTCCATTGATCCTGGGTAGTCTGGCTTGCTCAGGGCCCCTGGGGCCCCTGCTGACACCCACTCCTTTCGCCTCCAGGATTCAGCACCATGGCGGAAGACATGGAGACCAAAATCAAGAACTACAAGACCGCCCCTTTTGACAGCCACTTCCCCAACCAGAACCAGACTAGAAACTGCTGGCAGAACTACCTGGGTAAGCAGGACCTTTCCCTGGCCACATACCTCGAGTCACTCACCGCTTGCCTCTTCCTAGGGGACCCATCCACCCCAGCCTCCTCCCTTTTATTCTGAACATCCTTACTCTGGAAGGCCCATGCCTCTCATCACCTGCTGTTCAGGTCCAGGCTAGGGTTACAAACTTTAGTTCCTGCAATGATTTTTTTTTTAATTTAAATTTTTTATTATTATTATGGTTTGGTTTTGTTTTTTTCCAGAGATGGGGTCTCACTTTGTCACCTAGGCTGGAGTGCAGTGGTGCAATCATAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGAGGTCCCCCTACCTCAGCCTCTCGAGTAGCTGGGACCACAGGCCCACACTACTGTACTTGGCTAATTTTTTTGTAGAGAAGAGGTCTCAGTTTGTTGCCCAGGCTGGTCTCAAACTCTTGGCTTCATGCGCTCTTCCTGCCTCAGCTTCTCAAAGTGTTGGGATTATAGGTGTGAGCCACCGTGCCTGGCCCCTACAATGATTTTTTTTTAAGCTGTATGTGTGTGCGTACTGTAACATGTACAGAAAGCACATAACAAACATGTACAGCTAAATGAATAATTCTAAAGTGAACCCCTTGTGCAACCATAACCTGGAGAGAAAAGCAGACATTGCCCACACTCTCATCTCCCTGCCTTCTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGTCCCCCAAGTAGCTGGGATTACAGGCACCTGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTCCCCACCTTCTTTATGTCCTGTCTGGAACACAGCACCCCGCTCTCCCCAGTAGAGAAGTGACGCCACTAACTGGGGGTTATCACATCTTTGTTTTTGGTTTTGGTTTTTGTTTTTGAGACTGAGTTTTTTGTTTTCGTTGCCCAGGCTGGAGTGCAATGTCACGATCTCGGCTCACTGCAACCTCTTCTGCCTGCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCACTAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTTTTTTTTTTTAGTAAAGACAAGGTTTCACCATGTTGATCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACTGTGCCCGGCCTCACATCTTTGTTTTTTACCACCATGTTTATTATTTTATTTTATTTTATATATGTTATGTTGTTATGTTATTGATGGAGTCTGTTTCTTGTTGCCCAAGTTGGAGTGCAATGGCACGATCTCAGCTCATTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAATACAGGCGCTCGCCACCACACCCAGCTAATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTTTGTCGCCCAGGTTGGAGTGCAGTGGTGCAATCTCGACTCACTGCAACCTCCGCCTCCCAGCTTCAAGCACTTCTCTGCCTCAGCCTGCCGAGTAGCTGGGATTACAGTCGCCTGCCACCATGCCTGGCTAATTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTTACCATCTTGGCCAGGCTGGTCTTAAACTCCTGACCTCGTGATCCACCCCCCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACCATGCCTGGCCAATTTTATTTATTTATTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTACAACCTTGGCTCACT 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Task1_train_27041 | This variant impacts the gene KMT2B (lysine methyltransferase 2B) on Chromosome 19. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | TGGCTGGGGGAGTGGCTGCGGCCAGGTAAGCTGGTGGTCGAGCAGCCTGAGGCTGGGATTTTGTGGTGGCCCAATCCTGTCCAGATGTTTGGATTTTCTCATGACACACAGCTCAGTTGCTGAGCTGGGAAGCAGAGTGACGTGGATTGAGAGTGCTTAACTCAGAGGCTGCTTATGTCTCAGAGATGACATGAGAATATGGCAGTGGCCTTAGGAGGTCCCTGTCCTCAGGGATCAGACCACATTTTGGTGCGGGACACAGACATGTTAGCAAGGGCAGGTTAGAGTGGGCACTGAGAAACCGAGCAGTGAGAGCACCTGCCAGGGTCCTGTGGTCAGTCCTGCTGTGTTTGGGAAACTGGAAGTGAGGGTTGGGGGACACAGGGAAGAAGTTGACAGAGGTGGACTCTGGGGCACTGAGGCCTGGAGAAGACGGGAGTCACACGGCAGGAGTGTTGCTTTAGAGTCTCCCTTGGGGCAGGGGAGGTGGGGCAGGGTGGCCTGGAGAGGTGACATCGGGAGAGTGTGGCCATGTGGGTTTTGCCTCTCCTAAAGCCTGTTCCACTCAAGCTTTTGTGCCCCCAACCCCCAGTGGTCAGTCCCCAGCCCACACCTGCTTGAGCAGCAGCAGCGTTTGGTGCAGCGGATCCCTCCCGCCTTGAAGCATTGTCTTCCCGGCTTCCAAGGCTGCTCCTGCTCTCACCTCTGGTCCTGCCTCCTTGCTCACAGCTGTCAGGCTAGATGTGTCCCGGGACCCTGGCCTTGACTTCTGTGTATGCTCACTCCCAGGGGCTCCCTTCCAGCTTGGTGGCTGTCCTCCCGTCTGTGTTCTGATTGTCTCCACATTGCTCTCTCCAGCCTAGACCCTGTCCCTGAACTGTGGCCTCCTCCATCCTGTCCTGCTGCCTGCCCACCATCTCCACCAGCAGGTTGCAGGGGGAGGTTTCTAAGAGGCCTCTCAAAGTCAGCCTGTCCCAAACTGAGCCCTCCACCTGCACGCCAAACCCATTCTTCTTTTGCCTTCGCTGTCTCAGTCCACAGCAGTTTTATCCTTCCAGGTGTTCAAGCCCAGCGTTGTCCCGACCCCCATCCCCCTTCTTCACATCCACATCTACTACGTCAGCATATCCCGTCTGCCCTGTTTAATCTATTAACCCTCGAGAAATCCCCTAAATAGCTCATAACATACAGTGTACTTGGCTCTGTGCATGTGAGCCTATATAATAATATATTTGTAGCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGCCTGGCCAACATGGTGAAACACCATCTGTACTGAAAATACAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCTCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCCTGAATCTGAGAGGCACAGGTTGCAGTGAGCCGAGATCACACCATTGCATTCCAGCCTGGGAGACAGAACGAGACTTTGTCTCAAAAAATGATAATTTTATGTTTGTAACAGTTACAGAAATTTGCTGCATCTAAAAAAAATAGATGTGCAAAATACAATTCTCCAGTATTTTAAATTTTGTGTGAGAAACAGAATAATGACAGGTAGATGGGATGTATGGTACACTGGGTTTGAGTGAGCCATAGGCGTGTCCTGAAGAGCCAAAAGGCCCCAAGCCTCTGTGGAATGCTTTTGTACCCAAGAAGTCCTGCAGAAGAGGAGCCGCAGGCTCCTTAGGGGAAGAAATGTCCATTCTGCAGGGCTCACTGGGTAACTGGAGCAGAAGGAGGGCCATTAGACCCTAGTATCTGTGTCTGCGCCTAGGGGTGGAGAGAGTGGTGTCTGCTGGGAGCACAGCGGGGCTCAGGGGCTTTTGAGTCCGGGAAGGGTGATCTTCACTCCAACCTGCTTCTTGGGACCAGGTGAGGCTTCGAGCTCTGAGGAAGAGCCTCCATCCCCAGATGATAAAGAGAACCAGGCCCCAAAACGGACTGGCCCACATCTGCGCTTCGAGATCAGCAGTGAGGATGGGTTCAGCGTTGAGGCAGAGAGCTTGGAGGGTGAGTGGGGGGAGTGCAGTGGCAGGAGGGAGAGTGTCCATAAAACACCATCCTGACTCAGCTCTGGCTCTGCTGTCTCCCCAGGGGCGTGGAGAACTCTGATCGAGAAAGTGCAAGAGGCCCGAGGGCATGCCCGACTCAGACATCTCTCCTTTAGTGGTAAGGAGTGGGCCCCACAGGGGGCAGGGAGCTGGATGTCTCCCCGAGGGCACCATGGGCCCTCCACATGACAGGTGTGTCCTCAACATCTCCCCTCAGGAATGAGTGGGGCGAGACTCCTGGGCATCCACCATGATGCTGTCATCTTCCTGGCCGAGCAGCTCCCCGGAGCCCAGCGTTGCCAGCACTATAAGTTCCGTTACCACCAGCAGGGAGAGGGCCAGGAGGAGCCGCCCCTGAATCCCCATGGGGCTGCTCGGGCAGAGGTCTATCTCCGGTGAGAGGTCTGGGGTGTGATGCCTGGGTCAGGGCGCCCCTATGAGAGCTCTTGAGGGTGGGAGTTAACTGTAGAGGTTGGAAACTGAGGCCTGGGGAGGAGACACTAGGTCACTTGAAGAGTTATTTCTAGAGTTAGCCAGGCTCCGTGGCTCATGCCTGTAATCCCGCCACTTTGGGAGGCCGAGGCAGGAGGATCGCATGAGCCCAGGAGTTGGAGACCAGCGTAGGCAACATGGCAAAACCCCATCTCTAAAATAAAAATTTAAAAAAGTTATTTCTAGAGCTGACATCAGAAAAATGAACCCCACCCATTTCCCTGTTAGCTCTGTCTTCAACAGTATATTCCTCCTTCCCCTGCTGCCACCTGCAGGAAGTGCACCTTTGACATGTTCAACTTCCTGGCCTCCCAGCACCGGGTGCTCCCTGAGGGGGCCACCTGTGATGAGGAAGAGGATGAGGTGCAGCTCAGGTCAACCAGGTATGGAGTGTGAGCTGGGGGGCGGGTGGTGGTCTGGAAGGGTCTTAGAGAGTGAGCAGGGGTGAGAGAGGTCATTCTGAGCACCAGCCTGGGTGACACTGCTGTCCCTCACCAGACGTGCCACCAGCCTGGAGCTGCCCATGGCCATGCGTTTTCGTCACCTTAAGAAGACGTCCAAAGAAGCTGTGGGTGTCTACAGGTGAGTGGGGTTGGGGGGGAGGATGCCCCTTGGGTGGACGGACAGGTGCACTGGGTAGGGGGTACTGTCTGGTTTCTGTCCCCCTCCCCCCTGAGTTCCCTGTTCATCCTGCCCTGCAGATCAGCCATCCACGGGCGAGGCCTGTTCTGTAAGCGCAACATCGACGCGGGGGAGATGGTCATCGAGTACTCTGGCATTGTCATCCGCTCGGTGTTGACTGACAAGCGGGAGAAGTTCTACGATGGGAAGGTGGGCTCCCAGTGGCTGTGGGAAGACAGTGGGTGAAGCGAGCCTGTCCGCGGGGACAGAGCACCTGATCTCCCCACCTCATCCCTGCAGGGCATCGGGTGCTATATGTTCCGCATGGATGACTTTGATGTAGTGGACGCCACGATGCATGGCAATGCCGCCCGCTTCATCAACCACTCCTGTGAGCCCAACTGCTTCTCTCGGGTCATCCACGTGGAGGGCCAGAAACACATTGTTATCTTCGCCCTGCGCCGCATCCTGCGTGGTGAGGAGCTCACCTACGACTACAAGTTCCCCATCGAGGATGCCAGCAACAAGCTGCCCTGCAACTGTGGCGCCAAGCGCTGCCGTCGGTTCCTTAACTGAGGCCGTGGCTGCCCACCACGACCCCTCACACCTCCTGCTGCCGTCGCTGCCATCTTGCCCCTAGCCTGGGGGCTCCCTAGCCCCTCCCAGAGCATCTCACCCCCACCCTCATGTTCAGGGTGGATGTGGGCATGCAGGTGACAAGGGCCCTGCCTCCACCCCTCCAGCCCATCCAGCAATCGCCCCCTTTCTGCCCTGGGGGCCCAGGATGTAGATATTGTACAAAGGTTTCTAAATCCCTTCTTTTCTATGCACTTTTTTATTTAAGAGGTGGGGTCCCAGGTG 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TGGCTGGGGGAGTGGCTGCGGCCAGGTAAGCTGGTGGTCGAGCAGCCTGAGGCTGGGATTTTGTGGTGGCCCAATCCTGTCCAGATGTTTGGATTTTCTCATGACACACAGCTCAGTTGCTGAGCTGGGAAGCAGAGTGACGTGGATTGAGAGTGCTTAACTCAGAGGCTGCTTATGTCTCAGAGATGACATGAGAATATGGCAGTGGCCTTAGGAGGTCCCTGTCCTCAGGGATCAGACCACATTTTGGTGCGGGACACAGACATGTTAGCAAGGGCAGGTTAGAGTGGGCACTGAGAAACCGAGCAGTGAGAGCACCTGCCAGGGTCCTGTGGTCAGTCCTGCTGTGTTTGGGAAACTGGAAGTGAGGGTTGGGGGACACAGGGAAGAAGTTGACAGAGGTGGACTCTGGGGCACTGAGGCCTGGAGAAGACGGGAGTCACACGGCAGGAGTGTTGCTTTAGAGTCTCCCTTGGGGCAGGGGAGGTGGGGCAGGGTGGCCTGGAGAGGTGACATCGGGAGAGTGTGGCCATGTGGGTTTTGCCTCTCCTAAAGCCTGTTCCACTCAAGCTTTTGTGCCCCCAACCCCCAGTGGTCAGTCCCCAGCCCACACCTGCTTGAGCAGCAGCAGCGTTTGGTGCAGCGGATCCCTCCCGCCTTGAAGCATTGTCTTCCCGGCTTCCAAGGCTGCTCCTGCTCTCACCTCTGGTCCTGCCTCCTTGCTCACAGCTGTCAGGCTAGATGTGTCCCGGGACCCTGGCCTTGACTTCTGTGTATGCTCACTCCCAGGGGCTCCCTTCCAGCTTGGTGGCTGTCCTCCCGTCTGTGTTCTGATTGTCTCCACATTGCTCTCTCCAGCCTAGACCCTGTCCCTGAACTGTGGCCTCCTCCATCCTGTCCTGCTGCCTGCCCACCATCTCCACCAGCAGGTTGCAGGGGGAGGTTTCTAAGAGGCCTCTCAAAGTCAGCCTGTCCCAAACTGAGCCCTCCACCTGCACGCCAAACCCATTCTTCTTTTGCCTTCGCTGTCTCAGTCCACAGCAGTTTTATCCTTCCAGGTGTTCAAGCCCAGCGTTGTCCCGACCCCCATCCCCCTTCTTCACATCCACATCTACTACGTCAGCATATCCCGTCTGCCCTGTTTAATCTATTAACCCTCGAGAAATCCCCTAAATAGCTCATAACATACAGTGTACTTGGCTCTGTGCATGTGAGCCTATATAATAATATATTTGTAGCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGCCTGGCCAACATGGTGAAACACCATCTGTACTGAAAATACAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCTCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCCTGAATCTGAGAGGCACAGGTTGCAGTGAGCCGAGATCACACCATTGCATTCCAGCCTGGGAGACAGAACGAGACTTTGTCTCAAAAAATGATAATTTTATGTTTGTAACAGTTACAGAAATTTGCTGCATCTAAAAAAAATAGATGTGCAAAATACAATTCTCCAGTATTTTAAATTTTGTGTGAGAAACAGAATAATGACAGGTAGATGGGATGTATGGTACACTGGGTTTGAGTGAGCCATAGGCGTGTCCTGAAGAGCCAAAAGGCCCCAAGCCTCTGTGGAATGCTTTTGTACCCAAGAAGTCCTGCAGAAGAGGAGCCGCAGGCTCCTTAGGGGAAGAAATGTCCATTCTGCAGGGCTCACTGGGTAACTGGAGCAGAAGGAGGGCCATTAGACCCTAGTATCTGTGTCTGCGCCTAGGGGTGGAGAGAGTGGTGTCTGCTGGGAGCACAGCGGGGCTCAGGGGCTTTTGAGTCCGGGAAGGGTGATCTTCACTCCAACCTGCTTCTTGGGACCAGGTGAGGCTTCGAGCTCTGAGGAAGAGCCTCCATCCCCAGATGATAAAGAGAACCAGGCCCCAAAACGGACTGGCCCACATCTGCGCTTCGAGATCAGCAGTGAGGGTGGGTTCAGCGTTGAGGCAGAGAGCTTGGAGGGTGAGTGGGGGGAGTGCAGTGGCAGGAGGGAGAGTGTCCATAAAACACCATCCTGACTCAGCTCTGGCTCTGCTGTCTCCCCAGGGGCGTGGAGAACTCTGATCGAGAAAGTGCAAGAGGCCCGAGGGCATGCCCGACTCAGACATCTCTCCTTTAGTGGTAAGGAGTGGGCCCCACAGGGGGCAGGGAGCTGGATGTCTCCCCGAGGGCACCATGGGCCCTCCACATGACAGGTGTGTCCTCAACATCTCCCCTCAGGAATGAGTGGGGCGAGACTCCTGGGCATCCACCATGATGCTGTCATCTTCCTGGCCGAGCAGCTCCCCGGAGCCCAGCGTTGCCAGCACTATAAGTTCCGTTACCACCAGCAGGGAGAGGGCCAGGAGGAGCCGCCCCTGAATCCCCATGGGGCTGCTCGGGCAGAGGTCTATCTCCGGTGAGAGGTCTGGGGTGTGATGCCTGGGTCAGGGCGCCCCTATGAGAGCTCTTGAGGGTGGGAGTTAACTGTAGAGGTTGGAAACTGAGGCCTGGGGAGGAGACACTAGGTCACTTGAAGAGTTATTTCTAGAGTTAGCCAGGCTCCGTGGCTCATGCCTGTAATCCCGCCACTTTGGGAGGCCGAGGCAGGAGGATCGCATGAGCCCAGGAGTTGGAGACCAGCGTAGGCAACATGGCAAAACCCCATCTCTAAAATAAAAATTTAAAAAAGTTATTTCTAGAGCTGACATCAGAAAAATGAACCCCACCCATTTCCCTGTTAGCTCTGTCTTCAACAGTATATTCCTCCTTCCCCTGCTGCCACCTGCAGGAAGTGCACCTTTGACATGTTCAACTTCCTGGCCTCCCAGCACCGGGTGCTCCCTGAGGGGGCCACCTGTGATGAGGAAGAGGATGAGGTGCAGCTCAGGTCAACCAGGTATGGAGTGTGAGCTGGGGGGCGGGTGGTGGTCTGGAAGGGTCTTAGAGAGTGAGCAGGGGTGAGAGAGGTCATTCTGAGCACCAGCCTGGGTGACACTGCTGTCCCTCACCAGACGTGCCACCAGCCTGGAGCTGCCCATGGCCATGCGTTTTCGTCACCTTAAGAAGACGTCCAAAGAAGCTGTGGGTGTCTACAGGTGAGTGGGGTTGGGGGGGAGGATGCCCCTTGGGTGGACGGACAGGTGCACTGGGTAGGGGGTACTGTCTGGTTTCTGTCCCCCTCCCCCCTGAGTTCCCTGTTCATCCTGCCCTGCAGATCAGCCATCCACGGGCGAGGCCTGTTCTGTAAGCGCAACATCGACGCGGGGGAGATGGTCATCGAGTACTCTGGCATTGTCATCCGCTCGGTGTTGACTGACAAGCGGGAGAAGTTCTACGATGGGAAGGTGGGCTCCCAGTGGCTGTGGGAAGACAGTGGGTGAAGCGAGCCTGTCCGCGGGGACAGAGCACCTGATCTCCCCACCTCATCCCTGCAGGGCATCGGGTGCTATATGTTCCGCATGGATGACTTTGATGTAGTGGACGCCACGATGCATGGCAATGCCGCCCGCTTCATCAACCACTCCTGTGAGCCCAACTGCTTCTCTCGGGTCATCCACGTGGAGGGCCAGAAACACATTGTTATCTTCGCCCTGCGCCGCATCCTGCGTGGTGAGGAGCTCACCTACGACTACAAGTTCCCCATCGAGGATGCCAGCAACAAGCTGCCCTGCAACTGTGGCGCCAAGCGCTGCCGTCGGTTCCTTAACTGAGGCCGTGGCTGCCCACCACGACCCCTCACACCTCCTGCTGCCGTCGCTGCCATCTTGCCCCTAGCCTGGGGGCTCCCTAGCCCCTCCCAGAGCATCTCACCCCCACCCTCATGTTCAGGGTGGATGTGGGCATGCAGGTGACAAGGGCCCTGCCTCCACCCCTCCAGCCCATCCAGCAATCGCCCCCTTTCTGCCCTGGGGGCCCAGGATGTAGATATTGTACAAAGGTTTCTAAATCCCTTCTTTTCTATGCACTTTTTTATTTAAGAGGTGGGGTCCCAGGTG 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Task1_train_27042 | Assess the clinical impact of this variant on gene PSENEN (presenilin enhancer, gamma-secretase subunit), found on Chromosome 19. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Acne inversa, familial, 2 | TATGGTCTGCACAGAATTTAAAAGGGGCGGGGCCTGAGCTCAGAGGGCAGGGCTGCATGAACAGAGAGTGAGGCATGAAGGTTGGGGGTGGAACCTTACACCCCAGCCTAAGCATCATGAGTGCATCGGCGATCCTTTGCCCCTAAGAAACCAGAAAAGGGATGGAGGGGACTGGCAAGGATGAACAGCGGGATGGAAGGGACTGGCAAAGATGAACAGCCGCCGTGTGTAGCCTGTACGCATGGGGGCGCGACCAAGTTCCCGGGAAAACGGCACGAAGACCGGTGGGAGGAGCCTGCAGAAAGGTCCAATGAGAAAAAAAGCCGGGCGGTGGGGAGGGACTCAGGAACCCGGAATAGGCGGGACATGGTGACGACGGCCCCAGAAGGGGAAGGGCCAGGGAGCCGTTAACCCCCGAGGCTCCGTGCCGGGTCTCACCTGGCTGAATGTCGGCTTGTTGTGAAGCCGGGAGCACCGGTCCCCGTGCCGGCAGACCCCGATCTTAAAGTAAAAAGAGCAGTTAACCCTGGAAAAGGTGCAAAGACAAAGGTGAACCGAGGGCCGGGGAAGCTGGGCACCCCAGAAACACCGCCCCACCACCCAGGACCCCAGTACCCCGGCCCCGACCCCCCGAGAGTCCACTCCCAGCGCCCGTTCTCACTTGTCCTTCTCAGTCCCGAATATCGAAGCTAAATATTCAGCCATTTTTACCCAAGCCCTCCAGGTCTGGCTGCTCTTACGTCACTTCCGTTGCTTAGGAGCACTGGGAAGTGTAGTTCGTTGCCCTCTCCAGGCGCTTACCAAGCGCTCGGAAACGCCCCAGGGCGCTTGCGCGTGGGAGGCGCGCGCCCTCCCCATAGACTCCCCGGTAGGAGTTCTTTTAACAGCGCATGCGTGCAGTGTTGCCTCGCCCAAAGAAGACTACAATCTCCAGGGAAACCTGGGGCGTCTCGCGCAAACGTCCATAACTGAAAGTAGCTAAGGCACCCCAGCCGGAGGAAGTGAGCTCTCCTGGTGAGTTGGGGGTCGTTTCGCCCACCCTAGTAAATATAAAGAGCTCTTTAATCCAGCCAGCTTACTAGTGGGGGTGGGGATGCCCTGCTTTCAGCAAACCGACCTTTACATTTATCTCTGATTTGTTCTAATAGGGGCGTGGTTGTTCGTGATCCTTGCATCTGTTACTTAGGGTCAAGGCTTGGGTCTTGCCCCGCAGACCCTTGGGACGACCCGGCCCCAGCGCAGCTATGAACCTGGAGCGAGTGTCCAATGAGGAGAAATTGAACCTGTGCCGGAAGTACTACCTGGGTAAGGCAGATCGCTAGGGTCCCAGGAGAAGAGAGGGGACTGGACTAGAGCACCCGAGGGAAGAGGGCCTCGGGGCCTGGATTCTTAAGTCTAAGAGATGAAGGACCTGCGAACGCCGACTCCTGGATTTGAGTGGGGAGGGCCTGGGTCCTGAGGAATGAGGAAGCTGGGGCCTCAATTTCTGGATCCCAAGAGAGGAGGGGGATTGAGGGCCTGGACTCTTGGGTCCTGTGAAAGAGATGGTTGAGGAATCAGATTCCTGGATCCCAAAGAGGAGCCAGATTCCTGAGTCCCTGACAACAGAAATCTCCATTTGAACTTGGGTGTGGGAGAGTTTCTTCCAAATAGATCTCGGTGGGAGTTGGAGAAGATCTTCATTGCCTTATGAGGTTTTGGGGTTTGTTTGTTTGTTTTTCTTTCTCCCTAGGGGGGTTTGCTTTCCTGCCTTTTCTCTGGTTGGTCAACATCTTCTGGTTCTTCCGAGAGGCCTTCCTTGTCCCAGCCTACACAGAACAGAGCCAAATCAAAGGCTGTGAGTCTAGAGCACAGAGGAGGGAGGCCAGTGGCAGGGGAGAGGGGGAAGCGGGGAATCTTGGTGGGAAGGGACAATGGAGGATCCAAAATGTTGGGGCTCTGGGTGAGAAGGGAAGGCTGGTCTAGGGAAGTCTGGAGAGCAGCCGGAGGCCAACCCTTCCAGCTTCTGTTTCCCATGACAGATGTCTGGCGCTCAGCTGTGGGCTTCCTCTTCTGGGTGATAGTGCTCACCTCCTGGATCACCATCTTCCAGATCTACCGGCCCCGCTGGGGTGCCCTTGGGGACTACCTCTCCTTCACCATACCCCTGGGCACCCCCTGACAACTTCTGCACATACTGGGGCCCTGCTTATTCTCCCAGGACAGGCTCCTTAAAGCAGAGGAGCCTGTCCTGGGAGCCCCTTCTCAAACTCCTAAGACTTGTTTTCATGTCCCACGTTCTCTGCTGACATCCCCCAATAAAGGACCCTAACTTTCGATACTGACTTCCTGGGATCTTTTAGAGGTTGAGGCATAAATGATTATTAATATTTAAAAACATCTGTTGAGAGCTTTGTACGAGGCTTAGTATTTAGACATGATGTACATTTTTTACAGTGCATACTACTCATAATCTTCTGAACTAGGAACTTTCCTGCTCAGGAAACTATTAGATGAGAAACTAAGAAAGGAATAGTGCTTCCATTTCTTTTTCTTTTTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCAGCCAGGCTGGAGTGCAGTGGTAGGATCGGCCTAGTGCTTCCATTTCTAGGGGCTGTTATCCTGTACTGGTAGTCGTGAATTCAAAAATATAACTTTCCTACTGTGGGCTGCAGTATTCTCATCAGAAGTGTAGATCACGATGCTACTTCCTGGGATTTATCTGGACCAAGACGTGTGACAAATGGAAGTTTCCCGTTTTCTGAAGGAAGTGTTGTCTGCAAAAATAAAAATAGTCAAGAGCTTTCTCAGAGAATCCTTCCTTGACCATCCATCTTATTTAAAATTCAATCACCACCTTGATATTCCTATGTCCCTTTCAGGCTACACTTTTTTTGTGGGTTTTTTTTTTGGGGGGGGAGAGGGGTTTGTTGTTGTTGTCTGTTTGTTTTTCTAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGTCCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAAACTCTCGAATAGCTGGGATTACAGGCGCATGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAAAGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGTCACAGGTGATCTGCCTGCCTAGGCCTCCCAAAGAGCTGGGATTTACAGGCGTGAGCCACCATGCCCCGCCCAGATCATATTCTTTCTCCTATTACATTTCACTTAAAATTTACTTGTTTACTGTTTATCTTCCCTCCTTTAAAAGATAAGCTCCATTAGCGCAGGGATTTTTGTCTATTCTGTTCCTCAAGGTGTCTCCAATGCCTAGAAGAGTGCCCGACACACTAATAAATATTTGCAAAATGAATGAAGTTGTACCTGCAAAGAGATTAACAGATACCTGGCACCTAGCGAGTGCTCAGTGAGAGGGAACCCAACGTTATTTTACATTAGTCTTCCTCTTAGGGATGAAGGGACCCCAACGGTTGGTTAAATCCGGTAAAGAGCTAACTTGGTGTTGCTCAACCCTTCTCACACTACAAGTCCCGGGAAGCCTCGCGATGCCCTAATCCTTTGTTTCCCACCGTGCCCCGCGCGGCGCAGGCGCTGTTACTCAGGGTGAGTCTGGGAAGCTGGAACTACACCTCCCAGGAAGCTAGGGGGTAGATGGTTTGTTTCCGGAAGCAAAGCCCCAGGTGGGTGGGACCTAAAGCTGGGAGACTACGGAGGCAGCTCTCAATTGGTCAGGATGCGAGATTGACGGCTGCAATAACTAATAGGAACAAGCTACTGCCGAAGGGGCCCGCCCACAGAAGGGTGGTGGCCACGGTCCAGGCTGGACACAACCAAAGGCGGAGGACCCGTGGCCCACGAAGCTCATCTTTGAACTGTCCCCGCCTTCTCCCGCCTTGACTTGTGACCCTAGGCCCTTTGGGGCGCCTCTGACCCAGCTAGCCAGATCCCGGACCCAAACCATGTTCCCTGTGAAGGTGAAAGTGGAGAAATCAGGTGAGGACCCTGACGTCGGGGGCC 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TATGGTCTGCACAGAATTTAAAAGGGGCGGGGCCTGAGCTCAGAGGGCAGGGCTGCATGAACAGAGAGTGAGGCATGAAGGTTGGGGGTGGAACCTTACACCCCAGCCTAAGCATCATGAGTGCATCGGCGATCCTTTGCCCCTAAGAAACCAGAAAAGGGATGGAGGGGACTGGCAAGGATGAACAGCGGGATGGAAGGGACTGGCAAAGATGAACAGCCGCCGTGTGTAGCCTGTACGCATGGGGGCGCGACCAAGTTCCCGGGAAAACGGCACGAAGACCGGTGGGAGGAGCCTGCAGAAAGGTCCAATGAGAAAAAAAGCCGGGCGGTGGGGAGGGACTCAGGAACCCGGAATAGGCGGGACATGGTGACGACGGCCCCAGAAGGGGAAGGGCCAGGGAGCCGTTAACCCCCGAGGCTCCGTGCCGGGTCTCACCTGGCTGAATGTCGGCTTGTTGTGAAGCCGGGAGCACCGGTCCCCGTGCCGGCAGACCCCGATCTTAAAGTAAAAAGAGCAGTTAACCCTGGAAAAGGTGCAAAGACAAAGGTGAACCGAGGGCCGGGGAAGCTGGGCACCCCAGAAACACCGCCCCACCACCCAGGACCCCAGTACCCCGGCCCCGACCCCCCGAGAGTCCACTCCCAGCGCCCGTTCTCACTTGTCCTTCTCAGTCCCGAATATCGAAGCTAAATATTCAGCCATTTTTACCCAAGCCCTCCAGGTCTGGCTGCTCTTACGTCACTTCCGTTGCTTAGGAGCACTGGGAAGTGTAGTTCGTTGCCCTCTCCAGGCGCTTACCAAGCGCTCGGAAACGCCCCAGGGCGCTTGCGCGTGGGAGGCGCGCGCCCTCCCCATAGACTCCCCGGTAGGAGTTCTTTTAACAGCGCATGCGTGCAGTGTTGCCTCGCCCAAAGAAGACTACAATCTCCAGGGAAACCTGGGGCGTCTCGCGCAAACGTCCATAACTGAAAGTAGCTAAGGCACCCCAGCCGGAGGAAGTGAGCTCTCCTGGTGAGTTGGGGGTCGTTTCGCCCACCCTAGTAAATATAAAGAGCTCTTTAATCCAGCCAGCTTACTAGTGGGGGTGGGGATGCCCTGCTTTCAGCAAACCGACCTTTACATTTATCTCTGATTTGTTCTAATAGGGGCGTGGTTGTTCGTGATCCTTGCATCTGTTACTTAGGGTCAAGGCTTGGGTCTTGCCCCGCAGACCCTTGGGACGACCCGGCCCCAGCGCAGCTATGAACCTGGAGCGAGTGTCCAATGAGGAGAAATTGAACCTGTGCCGGAAGTACTACCTGGGTAAGGCAGATCGCTAGGGTCCCAGGAGAAGAGAGGGGACTGGACTAGAGCACCCGAGGGAAGAGGGCCTCGGGGCCTGGATTCTTAAGTCTAAGAGATGAAGGACCTGCGAACGCCGACTCCTGGATTTGAGTGGGGAGGGCCTGGGTCCTGAGGAATGAGGAAGCTGGGGCCTCAATTTCTGGATCCCAAGAGAGGAGGGGGATTGAGGGCCTGGACTCTTGGGTCCTGTGAAAGAGATGGTTGAGGAATCAGATTCCTGGATCCCAAAGAGGAGCCAGATTCCTGAGTCCCTGACAACAGAAATCTCCATTTGAACTTGGGTGTGGGAGAGTTTCTTCCAAATAGATCTCGGTGGGAGTTGGAGAAGATCTTCATTGCCTTATGAGGTTTTGGGGTTTGTTTGTTTGTTTTTCTTTCTCCCTAGGGGGGTTTGCTTTCCTGCCTTTTCTCTGGTTGGTCAACATCTTCTGGTTCTTCCGAGAGGCCTTCCTTGTCCCAGCCTACACAGAACAGAGCCAAATCAAAGGCTGTGAGTCTAGAGCACAGAGGAGGGAGGCCAGTGGCAGGGGAGAGGGGGAAGCGGGGAATCTTGGTGGGAAGGGACAATGGAGGATCCAAAATGTTGGGGCTCTGGGTGAGAAGGGAAGGCTGGTCTAGGGAAGTCTGGAGAGCAGCCGGAGGCCAACCCTTCCAGCTTCTGTTTCCCATGACAGATGTCTGGCGCTCAGCTGTGGGCTTCCGCTTCTGGGTGATAGTGCTCACCTCCTGGATCACCATCTTCCAGATCTACCGGCCCCGCTGGGGTGCCCTTGGGGACTACCTCTCCTTCACCATACCCCTGGGCACCCCCTGACAACTTCTGCACATACTGGGGCCCTGCTTATTCTCCCAGGACAGGCTCCTTAAAGCAGAGGAGCCTGTCCTGGGAGCCCCTTCTCAAACTCCTAAGACTTGTTTTCATGTCCCACGTTCTCTGCTGACATCCCCCAATAAAGGACCCTAACTTTCGATACTGACTTCCTGGGATCTTTTAGAGGTTGAGGCATAAATGATTATTAATATTTAAAAACATCTGTTGAGAGCTTTGTACGAGGCTTAGTATTTAGACATGATGTACATTTTTTACAGTGCATACTACTCATAATCTTCTGAACTAGGAACTTTCCTGCTCAGGAAACTATTAGATGAGAAACTAAGAAAGGAATAGTGCTTCCATTTCTTTTTCTTTTTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCAGCCAGGCTGGAGTGCAGTGGTAGGATCGGCCTAGTGCTTCCATTTCTAGGGGCTGTTATCCTGTACTGGTAGTCGTGAATTCAAAAATATAACTTTCCTACTGTGGGCTGCAGTATTCTCATCAGAAGTGTAGATCACGATGCTACTTCCTGGGATTTATCTGGACCAAGACGTGTGACAAATGGAAGTTTCCCGTTTTCTGAAGGAAGTGTTGTCTGCAAAAATAAAAATAGTCAAGAGCTTTCTCAGAGAATCCTTCCTTGACCATCCATCTTATTTAAAATTCAATCACCACCTTGATATTCCTATGTCCCTTTCAGGCTACACTTTTTTTGTGGGTTTTTTTTTTGGGGGGGGAGAGGGGTTTGTTGTTGTTGTCTGTTTGTTTTTCTAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGTCCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAAACTCTCGAATAGCTGGGATTACAGGCGCATGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAAAGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGTCACAGGTGATCTGCCTGCCTAGGCCTCCCAAAGAGCTGGGATTTACAGGCGTGAGCCACCATGCCCCGCCCAGATCATATTCTTTCTCCTATTACATTTCACTTAAAATTTACTTGTTTACTGTTTATCTTCCCTCCTTTAAAAGATAAGCTCCATTAGCGCAGGGATTTTTGTCTATTCTGTTCCTCAAGGTGTCTCCAATGCCTAGAAGAGTGCCCGACACACTAATAAATATTTGCAAAATGAATGAAGTTGTACCTGCAAAGAGATTAACAGATACCTGGCACCTAGCGAGTGCTCAGTGAGAGGGAACCCAACGTTATTTTACATTAGTCTTCCTCTTAGGGATGAAGGGACCCCAACGGTTGGTTAAATCCGGTAAAGAGCTAACTTGGTGTTGCTCAACCCTTCTCACACTACAAGTCCCGGGAAGCCTCGCGATGCCCTAATCCTTTGTTTCCCACCGTGCCCCGCGCGGCGCAGGCGCTGTTACTCAGGGTGAGTCTGGGAAGCTGGAACTACACCTCCCAGGAAGCTAGGGGGTAGATGGTTTGTTTCCGGAAGCAAAGCCCCAGGTGGGTGGGACCTAAAGCTGGGAGACTACGGAGGCAGCTCTCAATTGGTCAGGATGCGAGATTGACGGCTGCAATAACTAATAGGAACAAGCTACTGCCGAAGGGGCCCGCCCACAGAAGGGTGGTGGCCACGGTCCAGGCTGGACACAACCAAAGGCGGAGGACCCGTGGCCCACGAAGCTCATCTTTGAACTGTCCCCGCCTTCTCCCGCCTTGACTTGTGACCCTAGGCCCTTTGGGGCGCCTCTGACCCAGCTAGCCAGATCCCGGACCCAAACCATGTTCCCTGTGAAGGTGAAAGTGGAGAAATCAGGTGAGGACCCTGACGTCGGGGGCC 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Task1_train_27043 | A mutation in NPHS1 (NPHS1 adhesion molecule, nephrin), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Finnish congenital nephrotic syndrome | CGCCACCATGCCCAGCTAATTTTTCATATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGAACTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAACTGGGATTACAAGCGCATGCCATCACGCCCGGCTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGACTAATCCTGGTATTTTCATACTACTGTTAGGAAGAGAAAGAATTCTGTTTCCTCTGGGAATTCTAACAGACCACTGTGAGGGCCCTTAGAATAAAGCCAACACAGAGACATGCAGACGTAAGAATGAAGAGGGCTGGTCATCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAGAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGATGAGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATCGCACTCCAGCCTGGGTGACAAGAGTGAATCTCCATTTCAACAACAACAACAACAACAACAACAACAAAAAGAATGGAGAGTTGCTGATGGCAGCTGAACCTAGATCCAGAAACCCCTGAAAATCTATTTTTCAGTTACTTGAGCTAACAAGTACCCCCTCTCCATCTTTTTTCTGTTCTTTTCTTTTTCTTTTGCCTTTGTTGTGGGTCTTCCTGAAGATCCAGTCTCCATTAGGATTTTCAGGGCAGGCAAAAACTCCATCCTCACACATACACAGAACTTCCGGTTTCAGAAACATGGGCAGCCCAGGGCCAATCAGGGATGTGGGAATGGATCCAGGGAGCACCCCCTCCCCAACACCCTCACAGCCCCTCCATACTGATGCTGACAAGTTGAATGTTGGTTTGGTCCGAGCCAAGGGCGTTGGTGGCTGTACATGTGAAGAGGGCGTAATCCTGGGCGGCAGACACGTTGGCAATGGTCAGGAGGCTGCTGTGGACACCACCCTGGTGGTATGTGTGCTCCGTGTACCTAGAGAGAAGGTAGGGCACCACTCACCCTTCCATTCACCCAACCACTTATGCTTGGAATCATCTATGCATCCATCCATTAATGTAACCGTCTGCCTATCTATCCATTCATCCATTTATCTTTTCATCCACTCAACCATTCACTCACTCATTCCTCCACCCATTCGTCTTCCTTCTCTGCAGGGACTCAGGGAGGGGAAGTGGGGCTGGAGGTCCAGACCTGGGGCTGGAGTGCTGCCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGG 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CGCCACCATGCCCAGCTAATTTTTCATATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGAACTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAACTGGGATTACAAGCGCATGCCATCACGCCCGGCTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGACTAATCCTGGTATTTTCATACTACTGTTAGGAAGAGAAAGAATTCTGTTTCCTCTGGGAATTCTAACAGACCACTGTGAGGGCCCTTAGAATAAAGCCAACACAGAGACATGCAGACGTAAGAATGAAGAGGGCTGGTCATCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAGAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGATGAGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATCGCACTCCAGCCTGGGTGACAAGAGTGAATCTCCATTTCAACAACAACAACAACAACAACAACAACAAAAAGAATGGAGAGTTGCTGATGGCAGCTGAACCTAGATCCAGAAACCCCTGAAAATCTATTTTTCAGTTACTTGAGCTAACAAGTACCCCCTCTCCATCTTTTTTCTGTTCTTTTCTTTTTCTTTTGCCTTTGTTGTGGGTCTTCCTGAAGATCCAGTCTCCATTAGGATTTTCAGGGCAGGCAAAAACTCCATCCTCACACATACACAGAACTTCCGGTTTCAGAAACATGGGCAGCCCAGGGCCAATCAGGGATGTGGGAATGGATCCAGGGAGCACCCCCTCCCCAACACCCTCACAGCCCCTCCATACTGATGCTGACAAGTTGAATGTTGGTTTGGTCCGAGCCAAGGGCGTTGGTGGCTGTACATGTGAAGAGGGCGTAATCCTGGGCGGCAGACACGTTGGCAATGGTCAGGAGGCTGCTGTGGACACCACCCTGGTGGTATGTGTGCTCCGTGTACCTAGAGAGAAGGTAGGGCACCACTCACCCTTCCATTCACCCAACCACTTATGCTTGGAATCATCTATGCATCCATCCATTAATGTAACCGTCTGCCTATCTATCCATTCATCCATTTATCTTTTCATCCACTCAACCATTCACTCACTCATTCCTCCACCCATTCGTCTTCCTTCTCTGCAGGGACTCAGGGAGGGGAAGTGGGGCTGGAGGTCCAGACCTGGGGCTGGAGTGCTGCCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCGGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGG 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Task1_train_27044 | A variant affecting Chromosome 19, within the gene NPHS1 (NPHS1 adhesion molecule, nephrin), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Finnish congenital nephrotic syndrome | CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGAACTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAACTGGGATTACAAGCGCATGCCATCACGCCCGGCTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGACTAATCCTGGTATTTTCATACTACTGTTAGGAAGAGAAAGAATTCTGTTTCCTCTGGGAATTCTAACAGACCACTGTGAGGGCCCTTAGAATAAAGCCAACACAGAGACATGCAGACGTAAGAATGAAGAGGGCTGGTCATCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAGAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGATGAGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATCGCACTCCAGCCTGGGTGACAAGAGTGAATCTCCATTTCAACAACAACAACAACAACAACAACAACAAAAAGAATGGAGAGTTGCTGATGGCAGCTGAACCTAGATCCAGAAACCCCTGAAAATCTATTTTTCAGTTACTTGAGCTAACAAGTACCCCCTCTCCATCTTTTTTCTGTTCTTTTCTTTTTCTTTTGCCTTTGTTGTGGGTCTTCCTGAAGATCCAGTCTCCATTAGGATTTTCAGGGCAGGCAAAAACTCCATCCTCACACATACACAGAACTTCCGGTTTCAGAAACATGGGCAGCCCAGGGCCAATCAGGGATGTGGGAATGGATCCAGGGAGCACCCCCTCCCCAACACCCTCACAGCCCCTCCATACTGATGCTGACAAGTTGAATGTTGGTTTGGTCCGAGCCAAGGGCGTTGGTGGCTGTACATGTGAAGAGGGCGTAATCCTGGGCGGCAGACACGTTGGCAATGGTCAGGAGGCTGCTGTGGACACCACCCTGGTGGTATGTGTGCTCCGTGTACCTAGAGAGAAGGTAGGGCACCACTCACCCTTCCATTCACCCAACCACTTATGCTTGGAATCATCTATGCATCCATCCATTAATGTAACCGTCTGCCTATCTATCCATTCATCCATTTATCTTTTCATCCACTCAACCATTCACTCACTCATTCCTCCACCCATTCGTCTTCCTTCTCTGCAGGGACTCAGGGAGGGGAAGTGGGGCTGGAGGTCCAGACCTGGGGCTGGAGTGCTGCCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCA | CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGAACTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAACTGGGATTACAAGCGCATGCCATCACGCCCGGCTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGACTAATCCTGGTATTTTCATACTACTGTTAGGAAGAGAAAGAATTCTGTTTCCTCTGGGAATTCTAACAGACCACTGTGAGGGCCCTTAGAATAAAGCCAACACAGAGACATGCAGACGTAAGAATGAAGAGGGCTGGTCATCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAGAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGATGAGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATCGCACTCCAGCCTGGGTGACAAGAGTGAATCTCCATTTCAACAACAACAACAACAACAACAACAACAAAAAGAATGGAGAGTTGCTGATGGCAGCTGAACCTAGATCCAGAAACCCCTGAAAATCTATTTTTCAGTTACTTGAGCTAACAAGTACCCCCTCTCCATCTTTTTTCTGTTCTTTTCTTTTTCTTTTGCCTTTGTTGTGGGTCTTCCTGAAGATCCAGTCTCCATTAGGATTTTCAGGGCAGGCAAAAACTCCATCCTCACACATACACAGAACTTCCGGTTTCAGAAACATGGGCAGCCCAGGGCCAATCAGGGATGTGGGAATGGATCCAGGGAGCACCCCCTCCCCAACACCCTCACAGCCCCTCCATACTGATGCTGACAAGTTGAATGTTGGTTTGGTCCGAGCCAAGGGCGTTGGTGGCTGTACATGTGAAGAGGGCGTAATCCTGGGCGGCAGACACGTTGGCAATGGTCAGGAGGCTGCTGTGGACACCACCCTGGTGGTATGTGTGCTCCGTGTACCTAGAGAGAAGGTAGGGCACCACTCACCCTTCCATTCACCCAACCACTTATGCTTGGAATCATCTATGCATCCATCCATTAATGTAACCGTCTGCCTATCTATCCATTCATCCATTTATCTTTTCATCCACTCAACCATTCACTCACTCATTCCTCCACCCATTCGTCTTCCTTCTCTGCAGGGACTCAGGGAGGGGAAGTGGGGCTGGAGGTCCAGACCTGGGGCTGGAGTGCTGCCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCACAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCA 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Task1_train_27045 | Given a variant located on Chromosome 19 and affecting NPHS1 (NPHS1 adhesion molecule, nephrin), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Finnish congenital nephrotic syndrome | GGGAAGTGGGGCTGGAGGTCCAGACCTGGGGCTGGAGTGCTGCCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGTTAAAGTTGGGGTCACGACGGGGTTTAAGGTTGTGGACAAGGTAACAAGTTCAGAGCTAAGCTCAGGGGTAAGGTTCGGGATAGAAGTTAGAATACAGTTTAGGAAAAGAGCAGAAGCCAGGGTCAGTTTGAAGGATGGAAACAGGAGTCATGAGGGGGGTTAGGAGAGAGGACAAATGCAAGATGGGAGGAGGCAGGATAGGAGTTGGCCCAGGACCACGGGTCAGGATGAAGGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAATGATAGAGTGATAGTGTCAAAGCAAAGACCCAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCAAGGTGTTCAAGATCGGCCCGGGCAACATAGAGTAATGCCATCTCTATTTAAAATTAAAAGTACAAAAAATCAGCCTAGCATAGTGGCACGCGCCTGTAATCCCAGCACTTTGAGAGGCCAACGCAGGAGAACTGCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCGTTGCTACAAAAAGTAAAAATAAACTAGCGAAGCGTGGTAGCGCACACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGTATCACTTGAGCTCAGGAGTTGGAGACTGCAGTGACCTATGATTGCGTCACTGCATTGCAGCCTGAGCGACAAAAAATGAAAGAGAGAGAGAGAGAGAAGAGAAAAAGAAGGAAAAAAAGGTAAGACCCAAGGAGTAGTTTAGGGTCAAGAAGGCATCGAGAGGGGCTTTCAGGCCGGGGCACATACACAGTACGTTGAGGCGATAGAAGGAGCTCACGGTTTCGCGGAGCTCGGCGCTGTGGGCGCGGCAGGTCACGCGCTGGCCATGATCGCGGGATGACACTTGCAGAAGGACGCTCCTGGCGGCGGCGGAGCCTTTGAATGGGGCTCTCCGGGGTGGGGCGGCCACGCCCTCCAGCCTGTGGAACCGGGGTCAAGCCAGGGCTGCGAGCGGAGCCAGAGGCTGGAGAGGCACTAGGCGGGGGCGGGACATGCGTGGAGGGGGCGAGGCCAGACCAGAGAGGGGAGGGATCCCTCGCACTCCCACCTCTCCCCTTCCTTGTCCCAGGACAAGTTGACCGGCGGATTGCTGCTGACGCTGACGCATGTCAAGTTTAAGGCGTCTCCCGGGCGCAGTGCGGATGCGTTGGCCAGGATCGTCACGTTAGTTGGGGGAACTGGGAGACGGGGTTGGAGGAGCGAGACTCAGAGGTTAGGGGCGGCCTGGTCTGCGTCCACCCCGCCTGCACCCCAGGCTCCGCCCAGTCTCGGGTCCCCCACCCCGCCTCCGCCCGCTTTCCCCGGGTCCAGGGTTCGCTGGGTCCCTGCCCCACCTGGCTCTGTCCCTCCCGCCCCGCCCCCGGGCCTCAGCAGTGCGAGCCCTCACACTGCACCGCCAGCTGCGTGGACGCGCTGAGCTGTCCAGCCTTGCACGTGAACTTGGCCTGGTTGTCCGACGGCCCTGTGACCAGCACCAGCTCTCGGGAGAAGGTGCTCCCAGATTTCTCCACGCTGCCGAGATGCACGCGCCGCGAC 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GGGAAGTGGGGCTGGAGGTCCAGACCTGGGGCTGGAGTGCTGCCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCATGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGTTAAAGTTGGGGTCACGACGGGGTTTAAGGTTGTGGACAAGGTAACAAGTTCAGAGCTAAGCTCAGGGGTAAGGTTCGGGATAGAAGTTAGAATACAGTTTAGGAAAAGAGCAGAAGCCAGGGTCAGTTTGAAGGATGGAAACAGGAGTCATGAGGGGGGTTAGGAGAGAGGACAAATGCAAGATGGGAGGAGGCAGGATAGGAGTTGGCCCAGGACCACGGGTCAGGATGAAGGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAATGATAGAGTGATAGTGTCAAAGCAAAGACCCAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCAAGGTGTTCAAGATCGGCCCGGGCAACATAGAGTAATGCCATCTCTATTTAAAATTAAAAGTACAAAAAATCAGCCTAGCATAGTGGCACGCGCCTGTAATCCCAGCACTTTGAGAGGCCAACGCAGGAGAACTGCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCGTTGCTACAAAAAGTAAAAATAAACTAGCGAAGCGTGGTAGCGCACACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGTATCACTTGAGCTCAGGAGTTGGAGACTGCAGTGACCTATGATTGCGTCACTGCATTGCAGCCTGAGCGACAAAAAATGAAAGAGAGAGAGAGAGAGAAGAGAAAAAGAAGGAAAAAAAGGTAAGACCCAAGGAGTAGTTTAGGGTCAAGAAGGCATCGAGAGGGGCTTTCAGGCCGGGGCACATACACAGTACGTTGAGGCGATAGAAGGAGCTCACGGTTTCGCGGAGCTCGGCGCTGTGGGCGCGGCAGGTCACGCGCTGGCCATGATCGCGGGATGACACTTGCAGAAGGACGCTCCTGGCGGCGGCGGAGCCTTTGAATGGGGCTCTCCGGGGTGGGGCGGCCACGCCCTCCAGCCTGTGGAACCGGGGTCAAGCCAGGGCTGCGAGCGGAGCCAGAGGCTGGAGAGGCACTAGGCGGGGGCGGGACATGCGTGGAGGGGGCGAGGCCAGACCAGAGAGGGGAGGGATCCCTCGCACTCCCACCTCTCCCCTTCCTTGTCCCAGGACAAGTTGACCGGCGGATTGCTGCTGACGCTGACGCATGTCAAGTTTAAGGCGTCTCCCGGGCGCAGTGCGGATGCGTTGGCCAGGATCGTCACGTTAGTTGGGGGAACTGGGAGACGGGGTTGGAGGAGCGAGACTCAGAGGTTAGGGGCGGCCTGGTCTGCGTCCACCCCGCCTGCACCCCAGGCTCCGCCCAGTCTCGGGTCCCCCACCCCGCCTCCGCCCGCTTTCCCCGGGTCCAGGGTTCGCTGGGTCCCTGCCCCACCTGGCTCTGTCCCTCCCGCCCCGCCCCCGGGCCTCAGCAGTGCGAGCCCTCACACTGCACCGCCAGCTGCGTGGACGCGCTGAGCTGTCCAGCCTTGCACGTGAACTTGGCCTGGTTGTCCGACGGCCCTGTGACCAGCACCAGCTCTCGGGAGAAGGTGCTCCCAGATTTCTCCACGCTGCCGAGATGCACGCGCCGCGAC 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Task1_train_27046 | Consider a variant on Chromosome 19 in gene NPHS1 (NPHS1 adhesion molecule, nephrin). Determine its clinical classification and disease relevance. | Pathogenic; Finnish congenital nephrotic syndrome | CATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGTTAAAGTTGGGGTCACGACGGGGTTTAAGGTTGTGGACAAGGTAACAAGTTCAGAGCTAAGCTCAGGGGTAAGGTTCGGGATAGAAGTTAGAATACAGTTTAGGAAAAGAGCAGAAGCCAGGGTCAGTTTGAAGGATGGAAACAGGAGTCATGAGGGGGGTTAGGAGAGAGGACAAATGCAAGATGGGAGGAGGCAGGATAGGAGTTGGCCCAGGACCACGGGTCAGGATGAAGGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAATGATAGAGTGATAGTGTCAAAGCAAAGACCCAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCAAGGTGTTCAAGATCGGCCCGGGCAACATAGAGTAATGCCATCTCTATTTAAAATTAAAAGTACAAAAAATCAGCCTAGCATAGTGGCACGCGCCTGTAATCCCAGCACTTTGAGAGGCCAACGCAGGAGAACTGCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCGTTGCTACAAAAAGTAAAAATAAACTAGCGAAGCGTGGTAGCGCACACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGTATCACTTGAGCTCAGGAGTTGGAGACTGCAGTGACCTATGATTGCGTCACTGCATTGCAGCCTGAGCGACAAAAAATGAAAGAGAGAGAGAGAGAGAAGAGAAAAAGAAGGAAAAAAAGGTAAGACCCAAGGAGTAGTTTAGGGTCAAGAAGGCATCGAGAGGGGCTTTCAGGCCGGGGCACATACACAGTACGTTGAGGCGATAGAAGGAGCTCACGGTTTCGCGGAGCTCGGCGCTGTGGGCGCGGCAGGTCACGCGCTGGCCATGATCGCGGGATGACACTTGCAGAAGGACGCTCCTGGCGGCGGCGGAGCCTTTGAATGGGGCTCTCCGGGGTGGGGCGGCCACGCCCTCCAGCCTGTGGAACCGGGGTCAAGCCAGGGCTGCGAGCGGAGCCAGAGGCTGGAGAGGCACTAGGCGGGGGCGGGACATGCGTGGAGGGGGCGAGGCCAGACCAGAGAGGGGAGGGATCCCTCGCACTCCCACCTCTCCCCTTCCTTGTCCCAGGACAAGTTGACCGGCGGATTGCTGCTGACGCTGACGCATGTCAAGTTTAAGGCGTCTCCCGGGCGCAGTGCGGATGCGTTGGCCAGGATCGTCACGTTAGTTGGGGGAACTGGGAGACGGGGTTGGAGGAGCGAGACTCAGAGGTTAGGGGCGGCCTGGTCTGCGTCCACCCCGCCTGCACCCCAGGCTCCGCCCAGTCTCGGGTCCCCCACCCCGCCTCCGCCCGCTTTCCCCGGGTCCAGGGTTCGCTGGGTCCCTGCCCCACCTGGCTCTGTCCCTCCCGCCCCGCCCCCGGGCCTCAGCAGTGCGAGCCCTCACACTGCACCGCCAGCTGCGTGGACGCGCTGAGCTGTCCAGCCTTGCACGTGAACTTGGCCTGGTTGTCCGACGGCCCTGTGACCAGCACCAGCTCTCGGGAGAAGGTGCTCCCAGATTTCTCCACGCTGCCGAGATGCACGCGCCGCGACTCCTGCGGCAGCCGCGACTCGGTCACGGTGCGCGAGTCCTACGGGCCGGGAGTGACTGGGGTTCGCAGGCAGCCCTGCCGCTTCCACCAACCCCCAACCCCCCTACCCTGCCCACTGGGTTGGTGCCGCCAGCCCAAACAAAGCCTTTTTCTGATAAGGAGAAGCACTCTCATCAGCACCACCCCCCTAGGGCAAAGCAGTGGGGAGTGGAACTGAGTGACCCCCTCCCTGGAGTCTCTCCCGCCTCCCCGAGTCCCTGTGCATGGCAGTTTTGGGGATCTGAATCCGCCTTCTGTCCCACACCCAACTCCTGCTCTGCCTCTGCAGCCACCTGCAGGCTCTCAGCGCACTCCTCAAAATCTATTTCTGCTGTGTTTACCCAACACCACCTGCAGGAAACTCCCTTGAAATTCCCAGGCCTTTCCCAGAGTTCCTCAGTTCCTTTTCTTAAAATTCCTGCTGTCCCCAAAGATTTCCTTTGAAATTTTCCTTAATTCCAGTGTCTTTCCATAGATTACTTCCTTTTTTTATTATTGCTGCTGCACAAATTAAACTTTCCATAGATTTCTGAATCTTTCCCGATATTATAATATCTTATGATCCCAGTCTTTTAACAGATTCCTTTGTATTGCCCAGATTCTCAGCACTTCCCCAGAATTCCATCCAATTAAAATAAAATTCCATTGTCATTTCTATAATTTCTAGTCTTCCCCCCAAAGTTTTCAACTAGCTCCCTAATTCCCAGGATTCTCCTAGAATTCTATTAGGCTTCTCTTTCATTTTAATGAAATTTCATTTTCTTGCCTCCAAATCCCAAGAGTTCAGTTTAATACTAATGAATTTCCGATAGTCTGTGGAATTACTAGCTTTTCTCCAAATTTTCTTTTCTTTTCTTTTCTTTTTTTTTGAGACGGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGA 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CATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGTTAAAGTTGGGGTCACGACGGGGTTTAAGGTTGTGGACAAGGTAACAAGTTCAGAGCTAAGCTCAGGGGTAAGGTTCGGGATAGAAGTTAGAATACAGTTTAGGAAAAGAGCAGAAGCCAGGGTCAGTTTGAAGGATGGAAACAGGAGTCATGAGGGGGGTTAGGAGAGAGGACAAATGCAAGATGGGAGGAGGCAGGATAGGAGTTGGCCCAGGACCACGGGTCAGGATGAAGGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAATGATAGAGTGATAGTGTCAAAGCAAAGACCCAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCAAGGTGTTCAAGATCGGCCCGGGCAACATAGAGTAATGCCATCTCTATTTAAAATTAAAAGTACAAAAAATCAGCCTAGCATAGTGGCACGCGCCTGTAATCCCAGCACTTTGAGAGGCCAACGCAGGAGAACTGCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCGTTGCTACAAAAAGTAAAAATAAACTAGCGAAGCGTGGTAGCGCACACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGTATCACTTGAGCTCAGGAGTTGGAGACTGCAGTGACCTATGATTGCGTCACTGCATTGCAGCCTGAGCGACAAAAAATGAAAGAGAGAGAGAGAGAGAAGAGAAAAAGAAGGAAAAAAAGGTAAGACCCAAGGAGTAGTTTAGGGTCAAGAAGGCATCGAGAGGGGCTTTCAGGCCGGGGCACATACACAGTACGTTGAGGCGATAGAAGGAGCTCACGGTTTCGCGGAGCTCGGCGCTGTGGGCGCGGCAGGTCACGCGCTGGCCATGATCGCGGGATGACACTTGCAGAAGGACGCTCCTGGCGGCGGCGGAGCCTTTGAATGGGGCTCTCCGGGGTGGGGCGGCCACGCCCTCCCGCCTGTGGAACCGGGGTCAAGCCAGGGCTGCGAGCGGAGCCAGAGGCTGGAGAGGCACTAGGCGGGGGCGGGACATGCGTGGAGGGGGCGAGGCCAGACCAGAGAGGGGAGGGATCCCTCGCACTCCCACCTCTCCCCTTCCTTGTCCCAGGACAAGTTGACCGGCGGATTGCTGCTGACGCTGACGCATGTCAAGTTTAAGGCGTCTCCCGGGCGCAGTGCGGATGCGTTGGCCAGGATCGTCACGTTAGTTGGGGGAACTGGGAGACGGGGTTGGAGGAGCGAGACTCAGAGGTTAGGGGCGGCCTGGTCTGCGTCCACCCCGCCTGCACCCCAGGCTCCGCCCAGTCTCGGGTCCCCCACCCCGCCTCCGCCCGCTTTCCCCGGGTCCAGGGTTCGCTGGGTCCCTGCCCCACCTGGCTCTGTCCCTCCCGCCCCGCCCCCGGGCCTCAGCAGTGCGAGCCCTCACACTGCACCGCCAGCTGCGTGGACGCGCTGAGCTGTCCAGCCTTGCACGTGAACTTGGCCTGGTTGTCCGACGGCCCTGTGACCAGCACCAGCTCTCGGGAGAAGGTGCTCCCAGATTTCTCCACGCTGCCGAGATGCACGCGCCGCGACTCCTGCGGCAGCCGCGACTCGGTCACGGTGCGCGAGTCCTACGGGCCGGGAGTGACTGGGGTTCGCAGGCAGCCCTGCCGCTTCCACCAACCCCCAACCCCCCTACCCTGCCCACTGGGTTGGTGCCGCCAGCCCAAACAAAGCCTTTTTCTGATAAGGAGAAGCACTCTCATCAGCACCACCCCCCTAGGGCAAAGCAGTGGGGAGTGGAACTGAGTGACCCCCTCCCTGGAGTCTCTCCCGCCTCCCCGAGTCCCTGTGCATGGCAGTTTTGGGGATCTGAATCCGCCTTCTGTCCCACACCCAACTCCTGCTCTGCCTCTGCAGCCACCTGCAGGCTCTCAGCGCACTCCTCAAAATCTATTTCTGCTGTGTTTACCCAACACCACCTGCAGGAAACTCCCTTGAAATTCCCAGGCCTTTCCCAGAGTTCCTCAGTTCCTTTTCTTAAAATTCCTGCTGTCCCCAAAGATTTCCTTTGAAATTTTCCTTAATTCCAGTGTCTTTCCATAGATTACTTCCTTTTTTTATTATTGCTGCTGCACAAATTAAACTTTCCATAGATTTCTGAATCTTTCCCGATATTATAATATCTTATGATCCCAGTCTTTTAACAGATTCCTTTGTATTGCCCAGATTCTCAGCACTTCCCCAGAATTCCATCCAATTAAAATAAAATTCCATTGTCATTTCTATAATTTCTAGTCTTCCCCCCAAAGTTTTCAACTAGCTCCCTAATTCCCAGGATTCTCCTAGAATTCTATTAGGCTTCTCTTTCATTTTAATGAAATTTCATTTTCTTGCCTCCAAATCCCAAGAGTTCAGTTTAATACTAATGAATTTCCGATAGTCTGTGGAATTACTAGCTTTTCTCCAAATTTTCTTTTCTTTTCTTTTCTTTTTTTTTGAGACGGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGA 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Task1_train_27047 | The gene NPHS1 (NPHS1 adhesion molecule, nephrin) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Finnish congenital nephrotic syndrome | CACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGTTAAAGTTGGGGTCACGACGGGGTTTAAGGTTGTGGACAAGGTAACAAGTTCAGAGCTAAGCTCAGGGGTAAGGTTCGGGATAGAAGTTAGAATACAGTTTAGGAAAAGAGCAGAAGCCAGGGTCAGTTTGAAGGATGGAAACAGGAGTCATGAGGGGGGTTAGGAGAGAGGACAAATGCAAGATGGGAGGAGGCAGGATAGGAGTTGGCCCAGGACCACGGGTCAGGATGAAGGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAATGATAGAGTGATAGTGTCAAAGCAAAGACCCAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCAAGGTGTTCAAGATCGGCCCGGGCAACATAGAGTAATGCCATCTCTATTTAAAATTAAAAGTACAAAAAATCAGCCTAGCATAGTGGCACGCGCCTGTAATCCCAGCACTTTGAGAGGCCAACGCAGGAGAACTGCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCGTTGCTACAAAAAGTAAAAATAAACTAGCGAAGCGTGGTAGCGCACACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGTATCACTTGAGCTCAGGAGTTGGAGACTGCAGTGACCTATGATTGCGTCACTGCATTGCAGCCTGAGCGACAAAAAATGAAAGAGAGAGAGAGAGAGAAGAGAAAAAGAAGGAAAAAAAGGTAAGACCCAAGGAGTAGTTTAGGGTCAAGAAGGCATCGAGAGGGGCTTTCAGGCCGGGGCACATACACAGTACGTTGAGGCGATAGAAGGAGCTCACGGTTTCGCGGAGCTCGGCGCTGTGGGCGCGGCAGGTCACGCGCTGGCCATGATCGCGGGATGACACTTGCAGAAGGACGCTCCTGGCGGCGGCGGAGCCTTTGAATGGGGCTCTCCGGGGTGGGGCGGCCACGCCCTCCAGCCTGTGGAACCGGGGTCAAGCCAGGGCTGCGAGCGGAGCCAGAGGCTGGAGAGGCACTAGGCGGGGGCGGGACATGCGTGGAGGGGGCGAGGCCAGACCAGAGAGGGGAGGGATCCCTCGCACTCCCACCTCTCCCCTTCCTTGTCCCAGGACAAGTTGACCGGCGGATTGCTGCTGACGCTGACGCATGTCAAGTTTAAGGCGTCTCCCGGGCGCAGTGCGGATGCGTTGGCCAGGATCGTCACGTTAGTTGGGGGAACTGGGAGACGGGGTTGGAGGAGCGAGACTCAGAGGTTAGGGGCGGCCTGGTCTGCGTCCACCCCGCCTGCACCCCAGGCTCCGCCCAGTCTCGGGTCCCCCACCCCGCCTCCGCCCGCTTTCCCCGGGTCCAGGGTTCGCTGGGTCCCTGCCCCACCTGGCTCTGTCCCTCCCGCCCCGCCCCCGGGCCTCAGCAGTGCGAGCCCTCACACTGCACCGCCAGCTGCGTGGACGCGCTGAGCTGTCCAGCCTTGCACGTGAACTTGGCCTGGTTGTCCGACGGCCCTGTGACCAGCACCAGCTCTCGGGAGAAGGTGCTCCCAGATTTCTCCACGCTGCCGAGATGCACGCGCCGCGACTCCTGCGGCAGCCGCGACTCGGTCACGGTGCGCGAGTCCTACGGGCCGGGAGTGACTGGGGTTCGCAGGCAGCCCTGCCGCTTCCACCAACCCCCAACCCCCCTACCCTGCCCACTGGGTTGGTGCCGCCAGCCCAAACAAAGCCTTTTTCTGATAAGGAGAAGCACTCTCATCAGCACCACCCCCCTAGGGCAAAGCAGTGGGGAGTGGAACTGAGTGACCCCCTCCCTGGAGTCTCTCCCGCCTCCCCGAGTCCCTGTGCATGGCAGTTTTGGGGATCTGAATCCGCCTTCTGTCCCACACCCAACTCCTGCTCTGCCTCTGCAGCCACCTGCAGGCTCTCAGCGCACTCCTCAAAATCTATTTCTGCTGTGTTTACCCAACACCACCTGCAGGAAACTCCCTTGAAATTCCCAGGCCTTTCCCAGAGTTCCTCAGTTCCTTTTCTTAAAATTCCTGCTGTCCCCAAAGATTTCCTTTGAAATTTTCCTTAATTCCAGTGTCTTTCCATAGATTACTTCCTTTTTTTATTATTGCTGCTGCACAAATTAAACTTTCCATAGATTTCTGAATCTTTCCCGATATTATAATATCTTATGATCCCAGTCTTTTAACAGATTCCTTTGTATTGCCCAGATTCTCAGCACTTCCCCAGAATTCCATCCAATTAAAATAAAATTCCATTGTCATTTCTATAATTTCTAGTCTTCCCCCCAAAGTTTTCAACTAGCTCCCTAATTCCCAGGATTCTCCTAGAATTCTATTAGGCTTCTCTTTCATTTTAATGAAATTTCATTTTCTTGCCTCCAAATCCCAAGAGTTCAGTTTAATACTAATGAATTTCCGATAGTCTGTGGAATTACTAGCTTTTCTCCAAATTTTCTTTTCTTTTCTTTTCTTTTTTTTTGAGACGGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGACTTCAGGTGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGA 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CACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGTTAAAGTTGGGGTCACGACGGGGTTTAAGGTTGTGGACAAGGTAACAAGTTCAGAGCTAAGCTCAGGGGTAAGGTTCGGGATAGAAGTTAGAATACAGTTTAGGAAAAGAGCAGAAGCCAGGGTCAGTTTGAAGGATGGAAACAGGAGTCATGAGGGGGGTTAGGAGAGAGGACAAATGCAAGATGGGAGGAGGCAGGATAGGAGTTGGCCCAGGACCACGGGTCAGGATGAAGGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAATGATAGAGTGATAGTGTCAAAGCAAAGACCCAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCAAGGTGTTCAAGATCGGCCCGGGCAACATAGAGTAATGCCATCTCTATTTAAAATTAAAAGTACAAAAAATCAGCCTAGCATAGTGGCACGCGCCTGTAATCCCAGCACTTTGAGAGGCCAACGCAGGAGAACTGCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCGTTGCTACAAAAAGTAAAAATAAACTAGCGAAGCGTGGTAGCGCACACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGTATCACTTGAGCTCAGGAGTTGGAGACTGCAGTGACCTATGATTGCGTCACTGCATTGCAGCCTGAGCGACAAAAAATGAAAGAGAGAGAGAGAGAGAAGAGAAAAAGAAGGAAAAAAAGGTAAGACCCAAGGAGTAGTTTAGGGTCAAGAAGGCATCGAGAGGGGCTTTCAGGCCGGGGCACATACACAGTACGTTGAGGCGATAGAAGGAGCTCACGGTTTCGCGGAGCTCGGCGCTGTGGGCGCGGCAGGTCACGCGCTGGCCATGATCGCGGGATGACACTTGCAGAAGGACGCTCCTGGCGGCGGCGGAGCCTTTGAATGGGGCTCTCCGGGGTGGGGCGGCCACGCCCTCCAGCCTGTGGAACCGGGGTCAAGCCAGGGCTGCGAGCGGAGCCAGAGGCTGGAGAGGCACTAGGCGGGGGCGGGACATGCGTGGAGGGGGCGAGGCCAGACCAGAGAGGGGAGGGATCCCTCGCACTCCCACCCCTCCCCTTCCTTGTCCCAGGACAAGTTGACCGGCGGATTGCTGCTGACGCTGACGCATGTCAAGTTTAAGGCGTCTCCCGGGCGCAGTGCGGATGCGTTGGCCAGGATCGTCACGTTAGTTGGGGGAACTGGGAGACGGGGTTGGAGGAGCGAGACTCAGAGGTTAGGGGCGGCCTGGTCTGCGTCCACCCCGCCTGCACCCCAGGCTCCGCCCAGTCTCGGGTCCCCCACCCCGCCTCCGCCCGCTTTCCCCGGGTCCAGGGTTCGCTGGGTCCCTGCCCCACCTGGCTCTGTCCCTCCCGCCCCGCCCCCGGGCCTCAGCAGTGCGAGCCCTCACACTGCACCGCCAGCTGCGTGGACGCGCTGAGCTGTCCAGCCTTGCACGTGAACTTGGCCTGGTTGTCCGACGGCCCTGTGACCAGCACCAGCTCTCGGGAGAAGGTGCTCCCAGATTTCTCCACGCTGCCGAGATGCACGCGCCGCGACTCCTGCGGCAGCCGCGACTCGGTCACGGTGCGCGAGTCCTACGGGCCGGGAGTGACTGGGGTTCGCAGGCAGCCCTGCCGCTTCCACCAACCCCCAACCCCCCTACCCTGCCCACTGGGTTGGTGCCGCCAGCCCAAACAAAGCCTTTTTCTGATAAGGAGAAGCACTCTCATCAGCACCACCCCCCTAGGGCAAAGCAGTGGGGAGTGGAACTGAGTGACCCCCTCCCTGGAGTCTCTCCCGCCTCCCCGAGTCCCTGTGCATGGCAGTTTTGGGGATCTGAATCCGCCTTCTGTCCCACACCCAACTCCTGCTCTGCCTCTGCAGCCACCTGCAGGCTCTCAGCGCACTCCTCAAAATCTATTTCTGCTGTGTTTACCCAACACCACCTGCAGGAAACTCCCTTGAAATTCCCAGGCCTTTCCCAGAGTTCCTCAGTTCCTTTTCTTAAAATTCCTGCTGTCCCCAAAGATTTCCTTTGAAATTTTCCTTAATTCCAGTGTCTTTCCATAGATTACTTCCTTTTTTTATTATTGCTGCTGCACAAATTAAACTTTCCATAGATTTCTGAATCTTTCCCGATATTATAATATCTTATGATCCCAGTCTTTTAACAGATTCCTTTGTATTGCCCAGATTCTCAGCACTTCCCCAGAATTCCATCCAATTAAAATAAAATTCCATTGTCATTTCTATAATTTCTAGTCTTCCCCCCAAAGTTTTCAACTAGCTCCCTAATTCCCAGGATTCTCCTAGAATTCTATTAGGCTTCTCTTTCATTTTAATGAAATTTCATTTTCTTGCCTCCAAATCCCAAGAGTTCAGTTTAATACTAATGAATTTCCGATAGTCTGTGGAATTACTAGCTTTTCTCCAAATTTTCTTTTCTTTTCTTTTCTTTTTTTTTGAGACGGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGACTTCAGGTGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGA 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Task1_train_27048 | This sequence change occurs on Chromosome 19, altering NPHS1 (NPHS1 adhesion molecule, nephrin). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | AAAGATTTCCTTTGAAATTTTCCTTAATTCCAGTGTCTTTCCATAGATTACTTCCTTTTTTTATTATTGCTGCTGCACAAATTAAACTTTCCATAGATTTCTGAATCTTTCCCGATATTATAATATCTTATGATCCCAGTCTTTTAACAGATTCCTTTGTATTGCCCAGATTCTCAGCACTTCCCCAGAATTCCATCCAATTAAAATAAAATTCCATTGTCATTTCTATAATTTCTAGTCTTCCCCCCAAAGTTTTCAACTAGCTCCCTAATTCCCAGGATTCTCCTAGAATTCTATTAGGCTTCTCTTTCATTTTAATGAAATTTCATTTTCTTGCCTCCAAATCCCAAGAGTTCAGTTTAATACTAATGAATTTCCGATAGTCTGTGGAATTACTAGCTTTTCTCCAAATTTTCTTTTCTTTTCTTTTCTTTTTTTTTGAGACGGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGACTTCAGGTGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACCTCAGAATCTTTAGTACTTTTCAAGAAATTTAATCTTTTTCCAAGATTGCCCAAGATTCTGAAGGAGAGAAGGGGCCTGGTCCTTCCCCCACATTCCTGGCCACCCCCATAGCCCTGGCGTGGCACCAACCTTGTACCACATGAGGGAGGGCTCTGGGTTGCCCCCGATAGCCAAACACACCAGCCTCACCCGGGTCCCAGCCCGGAGCTTCTGGCCCTCTGGGGGACCCTCAATCCACAGTTTCTGGGCGGGATCTGGCGGGGAGAGGAAGGAAGAATGACTTTTTCTCTGTGCTGGGTCCTGAGGCTTGGGGGCATTGCTGGGCCAGGGCAGGGGCTCACATTTTACGTTCAGGATGAGCGACTTCTTGAAGGTCTCCTTGGTGAAGGCTTCACTGAAGGCCTCACATGTGAGGGTCAGACCGTTGTCCTCCCGCCGCGCCAGGAATGTCAGGTTGGACATGGAGATGTGACCGCCATGCAGTCCCTGGCAGGGAGTGAGCTTCAGACGTGGGGACTGCAGCACCCCTATCCATCGTGCTAGAGGCCTGAGTCCATCCCAGTCCCCAGCAGGGACACAGGAGACATCTCTACCTCCCCCTCTGTTGGACCCATGGTCCTCAAGGAGAAAGCCCCCCAGGCTGCTGGACCCACCCCTTCCCTATCCACGAGTCATGCCCTCAGCCCCCTCCATGCTCAGACCCAGGAGCCTGGCCCCCGCCTCACATCCATGACTGTCTCCTCCATGGGCAGCAGCTGCCGCCAGCCCAGCCACCATCGTAGCAGAACCCGCGGGCGACTGGACTTGCTGACACAGGAGAGTGTCACGTTCTTGTTCTCAGTCTGGGATGCAGATCCCAAGATAATAATGGCACTAGGGGGAACTGCAGGGACAGAGAAGGAAGACACTAAGCTGGGCTGGATTTCTCACAGACCAGCCCAGACAGAACAGGACTGGAGACAGATGCTGAGATCTTTGGCATCCAGTAGGCATAATTTGGGGGCACACACAGATGGTTCTCTGAGGCACAGACCGACAGGGGGGCAGCTGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCAGCCACTGCAGTGTGGCTAAGGGATTACCCCCTCGGGCCACGCACGGCAGCTCCAAGCTCTGTCCTGCCCGCACGTGCCCCTCATCCAGGCCTGGCCACTCGATGACAGGGGGTCCTGGAGGGACTGGGGGATATCAGTCACTCAGTGGGCCTGGAGTAGCCCATCCACTCTTTCCAGGCCCCACAACCTGCCTTTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGC 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AAAGATTTCCTTTGAAATTTTCCTTAATTCCAGTGTCTTTCCATAGATTACTTCCTTTTTTTATTATTGCTGCTGCACAAATTAAACTTTCCATAGATTTCTGAATCTTTCCCGATATTATAATATCTTATGATCCCAGTCTTTTAACAGATTCCTTTGTATTGCCCAGATTCTCAGCACTTCCCCAGAATTCCATCCAATTAAAATAAAATTCCATTGTCATTTCTATAATTTCTAGTCTTCCCCCCAAAGTTTTCAACTAGCTCCCTAATTCCCAGGATTCTCCTAGAATTCTATTAGGCTTCTCTTTCATTTTAATGAAATTTCATTTTCTTGCCTCCAAATCCCAAGAGTTCAGTTTAATACTAATGAATTTCCGATAGTCTGTGGAATTACTAGCTTTTCTCCAAATTTTCTTTTCTTTTCTTTTCTTTTTTTTTGAGACGGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGACTTCAGGTGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACCTCAGAATCTTTAGTACTTTTCAAGAAATTTAATCTTTTTCCAAGATTGCCCAAGATTCTGAAGGAGAGAAGGGGCCTGGTCCTTCCCCCACATTCCTGGCCACCCCCATAGCCCTGGCGTGGCACCAACCTTGTACCACATGAGGGAGGGCTCTGGGTTGCCCCCGATAGCCAAACACACCAGCCTCACCCGGGTCCCAGCCCGGAGCTTCTGGCCCTCTGGGGGACCCTCAATCCACAGTTTCTGGGCGGGATCTGGCGGGGAGAGGAAGGAAGAATGACTTTTTCTCTGTGCTGGGTCCTGAGGCTTGGGGGCATTGCTGGGCCAGGGCAGGGGCTCACATTTTACGTTCAGGATGAGCGACTTCTTGAAGGTCTCCTTGGTGAAGGCTTCACTGAAGGCCTCACATGTGAGGGTCAGACCGTTGTCCTCCCGCCGCGCCAGGAATGTCAGGTTGGACATGGAGATGTGACCGCCATGCAGTCCCTGGCAGGGAGTGAGCTTCAGACGTGGGGACTGCAGCACCCCTATCCATCGTGCTAGAGGCCTGAGTCCATCCCAGTCCCCAGCAGGGACACAGGAGACATCTCTACCTCCCCCTCTGTTGGACCCATGGTCCTCAAGGAGAAAGCCCCCCAGGCTGCTGGACCCACCCCTTCCCTATCCACGAGTCATGCCCTCAGCCCCCTCCATGCTCAGACCCAGGAGCCTGGCCCCCGCCTCACATCCATGACTGTCTCCTCCATGGGCAGCAGCTGCCACCAGCCCAGCCACCATCGTAGCAGAACCCGCGGGCGACTGGACTTGCTGACACAGGAGAGTGTCACGTTCTTGTTCTCAGTCTGGGATGCAGATCCCAAGATAATAATGGCACTAGGGGGAACTGCAGGGACAGAGAAGGAAGACACTAAGCTGGGCTGGATTTCTCACAGACCAGCCCAGACAGAACAGGACTGGAGACAGATGCTGAGATCTTTGGCATCCAGTAGGCATAATTTGGGGGCACACACAGATGGTTCTCTGAGGCACAGACCGACAGGGGGGCAGCTGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCAGCCACTGCAGTGTGGCTAAGGGATTACCCCCTCGGGCCACGCACGGCAGCTCCAAGCTCTGTCCTGCCCGCACGTGCCCCTCATCCAGGCCTGGCCACTCGATGACAGGGGGTCCTGGAGGGACTGGGGGATATCAGTCACTCAGTGGGCCTGGAGTAGCCCATCCACTCTTTCCAGGCCCCACAACCTGCCTTTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGC 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Task1_train_27049 | A variant was discovered in gene NPHS1 (NPHS1 adhesion molecule, nephrin), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Finnish congenital nephrotic syndrome | TCCATAGATTACTTCCTTTTTTTATTATTGCTGCTGCACAAATTAAACTTTCCATAGATTTCTGAATCTTTCCCGATATTATAATATCTTATGATCCCAGTCTTTTAACAGATTCCTTTGTATTGCCCAGATTCTCAGCACTTCCCCAGAATTCCATCCAATTAAAATAAAATTCCATTGTCATTTCTATAATTTCTAGTCTTCCCCCCAAAGTTTTCAACTAGCTCCCTAATTCCCAGGATTCTCCTAGAATTCTATTAGGCTTCTCTTTCATTTTAATGAAATTTCATTTTCTTGCCTCCAAATCCCAAGAGTTCAGTTTAATACTAATGAATTTCCGATAGTCTGTGGAATTACTAGCTTTTCTCCAAATTTTCTTTTCTTTTCTTTTCTTTTTTTTTGAGACGGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGACTTCAGGTGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACCTCAGAATCTTTAGTACTTTTCAAGAAATTTAATCTTTTTCCAAGATTGCCCAAGATTCTGAAGGAGAGAAGGGGCCTGGTCCTTCCCCCACATTCCTGGCCACCCCCATAGCCCTGGCGTGGCACCAACCTTGTACCACATGAGGGAGGGCTCTGGGTTGCCCCCGATAGCCAAACACACCAGCCTCACCCGGGTCCCAGCCCGGAGCTTCTGGCCCTCTGGGGGACCCTCAATCCACAGTTTCTGGGCGGGATCTGGCGGGGAGAGGAAGGAAGAATGACTTTTTCTCTGTGCTGGGTCCTGAGGCTTGGGGGCATTGCTGGGCCAGGGCAGGGGCTCACATTTTACGTTCAGGATGAGCGACTTCTTGAAGGTCTCCTTGGTGAAGGCTTCACTGAAGGCCTCACATGTGAGGGTCAGACCGTTGTCCTCCCGCCGCGCCAGGAATGTCAGGTTGGACATGGAGATGTGACCGCCATGCAGTCCCTGGCAGGGAGTGAGCTTCAGACGTGGGGACTGCAGCACCCCTATCCATCGTGCTAGAGGCCTGAGTCCATCCCAGTCCCCAGCAGGGACACAGGAGACATCTCTACCTCCCCCTCTGTTGGACCCATGGTCCTCAAGGAGAAAGCCCCCCAGGCTGCTGGACCCACCCCTTCCCTATCCACGAGTCATGCCCTCAGCCCCCTCCATGCTCAGACCCAGGAGCCTGGCCCCCGCCTCACATCCATGACTGTCTCCTCCATGGGCAGCAGCTGCCGCCAGCCCAGCCACCATCGTAGCAGAACCCGCGGGCGACTGGACTTGCTGACACAGGAGAGTGTCACGTTCTTGTTCTCAGTCTGGGATGCAGATCCCAAGATAATAATGGCACTAGGGGGAACTGCAGGGACAGAGAAGGAAGACACTAAGCTGGGCTGGATTTCTCACAGACCAGCCCAGACAGAACAGGACTGGAGACAGATGCTGAGATCTTTGGCATCCAGTAGGCATAATTTGGGGGCACACACAGATGGTTCTCTGAGGCACAGACCGACAGGGGGGCAGCTGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCAGCCACTGCAGTGTGGCTAAGGGATTACCCCCTCGGGCCACGCACGGCAGCTCCAAGCTCTGTCCTGCCCGCACGTGCCCCTCATCCAGGCCTGGCCACTCGATGACAGGGGGTCCTGGAGGGACTGGGGGATATCAGTCACTCAGTGGGCCTGGAGTAGCCCATCCACTCTTTCCAGGCCCCACAACCTGCCTTTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGC 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TCCATAGATTACTTCCTTTTTTTATTATTGCTGCTGCACAAATTAAACTTTCCATAGATTTCTGAATCTTTCCCGATATTATAATATCTTATGATCCCAGTCTTTTAACAGATTCCTTTGTATTGCCCAGATTCTCAGCACTTCCCCAGAATTCCATCCAATTAAAATAAAATTCCATTGTCATTTCTATAATTTCTAGTCTTCCCCCCAAAGTTTTCAACTAGCTCCCTAATTCCCAGGATTCTCCTAGAATTCTATTAGGCTTCTCTTTCATTTTAATGAAATTTCATTTTCTTGCCTCCAAATCCCAAGAGTTCAGTTTAATACTAATGAATTTCCGATAGTCTGTGGAATTACTAGCTTTTCTCCAAATTTTCTTTTCTTTTCTTTTCTTTTTTTTTGAGACGGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGACTTCAGGTGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACCTCAGAATCTTTAGTACTTTTCAAGAAATTTAATCTTTTTCCAAGATTGCCCAAGATTCTGAAGGAGAGAAGGGGCCTGGTCCTTCCCCCACATTCCTGGCCACCCCCATAGCCCTGGCGTGGCACCAACCTTGTACCACATGAGGGAGGGCTCTGGGTTGCCCCCGATAGCCAAACACACCAGCCTCACCCGGGTCCCAGCCCGGAGCTTCTGGCCCTCTGGGGGACCCTCAATCCACAGTTTCTGGGCGGGATCTGGCGGGGAGAGGAAGGAAGAATGACTTTTTCTCTGTGCTGGGTCCTGAGGCTTGGGGGCATTGCTGGGCCAGGGCAGGGGCTCACATTTTACGTTCAGGATGAGCGACTTCTTGAAGGTCTCCTTGGTGAAGGCTTCACTGAAGGCCTCACATGTGAGGGTCAGACCGTTGTCCTCCCGCCGCGCCAGGAATGTCAGGTTGGACATGGAGATGTGACCGCCATGCAGTCCCTGGCAGGGAGTGAGCTTCAGACGTGGGGACTGCAGCACCCCTATCCATCGTGCTAGAGGCCTGAGTCCATCCCAGTCCCCAGCAGGGACACAGGAGACATCTCTACCTCCCCCTCTGTTGGACCCATGGTCCTCAAGGAGAAAGCCCCCCAGGCTGCTGGACCCACCCCTTCCCTATCCACGAGTCATGCCCTCAGCCCCCTCCATGCTCAGACCCAGGAGCCTGGCCCCCGCCTCACATCCATGACTGTCTCCTCCATGGGCAGCAGCTGCCGCCAGCCCAGCCACCATCGTAGCAGAACCCGCGGGCGACGGGACTTGCTGACACAGGAGAGTGTCACGTTCTTGTTCTCAGTCTGGGATGCAGATCCCAAGATAATAATGGCACTAGGGGGAACTGCAGGGACAGAGAAGGAAGACACTAAGCTGGGCTGGATTTCTCACAGACCAGCCCAGACAGAACAGGACTGGAGACAGATGCTGAGATCTTTGGCATCCAGTAGGCATAATTTGGGGGCACACACAGATGGTTCTCTGAGGCACAGACCGACAGGGGGGCAGCTGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCAGCCACTGCAGTGTGGCTAAGGGATTACCCCCTCGGGCCACGCACGGCAGCTCCAAGCTCTGTCCTGCCCGCACGTGCCCCTCATCCAGGCCTGGCCACTCGATGACAGGGGGTCCTGGAGGGACTGGGGGATATCAGTCACTCAGTGGGCCTGGAGTAGCCCATCCACTCTTTCCAGGCCCCACAACCTGCCTTTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGC 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Task1_train_27050 | This variant impacts the gene NPHS1 (NPHS1 adhesion molecule, nephrin) on Chromosome 19. Is the change likely to result in a pathogenic outcome? | Pathogenic; Finnish congenital nephrotic syndrome | CGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGACTTCAGGTGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACCTCAGAATCTTTAGTACTTTTCAAGAAATTTAATCTTTTTCCAAGATTGCCCAAGATTCTGAAGGAGAGAAGGGGCCTGGTCCTTCCCCCACATTCCTGGCCACCCCCATAGCCCTGGCGTGGCACCAACCTTGTACCACATGAGGGAGGGCTCTGGGTTGCCCCCGATAGCCAAACACACCAGCCTCACCCGGGTCCCAGCCCGGAGCTTCTGGCCCTCTGGGGGACCCTCAATCCACAGTTTCTGGGCGGGATCTGGCGGGGAGAGGAAGGAAGAATGACTTTTTCTCTGTGCTGGGTCCTGAGGCTTGGGGGCATTGCTGGGCCAGGGCAGGGGCTCACATTTTACGTTCAGGATGAGCGACTTCTTGAAGGTCTCCTTGGTGAAGGCTTCACTGAAGGCCTCACATGTGAGGGTCAGACCGTTGTCCTCCCGCCGCGCCAGGAATGTCAGGTTGGACATGGAGATGTGACCGCCATGCAGTCCCTGGCAGGGAGTGAGCTTCAGACGTGGGGACTGCAGCACCCCTATCCATCGTGCTAGAGGCCTGAGTCCATCCCAGTCCCCAGCAGGGACACAGGAGACATCTCTACCTCCCCCTCTGTTGGACCCATGGTCCTCAAGGAGAAAGCCCCCCAGGCTGCTGGACCCACCCCTTCCCTATCCACGAGTCATGCCCTCAGCCCCCTCCATGCTCAGACCCAGGAGCCTGGCCCCCGCCTCACATCCATGACTGTCTCCTCCATGGGCAGCAGCTGCCGCCAGCCCAGCCACCATCGTAGCAGAACCCGCGGGCGACTGGACTTGCTGACACAGGAGAGTGTCACGTTCTTGTTCTCAGTCTGGGATGCAGATCCCAAGATAATAATGGCACTAGGGGGAACTGCAGGGACAGAGAAGGAAGACACTAAGCTGGGCTGGATTTCTCACAGACCAGCCCAGACAGAACAGGACTGGAGACAGATGCTGAGATCTTTGGCATCCAGTAGGCATAATTTGGGGGCACACACAGATGGTTCTCTGAGGCACAGACCGACAGGGGGGCAGCTGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCAGCCACTGCAGTGTGGCTAAGGGATTACCCCCTCGGGCCACGCACGGCAGCTCCAAGCTCTGTCCTGCCCGCACGTGCCCCTCATCCAGGCCTGGCCACTCGATGACAGGGGGTCCTGGAGGGACTGGGGGATATCAGTCACTCAGTGGGCCTGGAGTAGCCCATCCACTCTTTCCAGGCCCCACAACCTGCCTTTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGCTGGTTGCTGCCGCCCTCGATGTGCCCTCGCATCCACTGGGTCCCACACTGGCCTCAGCATCTCCCCACACCTTCTCCTGGGTCCCCATCCCAGGGATGACATCTTTTCTGGGGCCCTTAGAAGGGTACTGGTCAGGAACACACACCCTTCCCACTCCAGAGGCTTCATGCTGCCCCCTGCCACCCAGTTCACCCACACTCACTCAGGAGAATGGTGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACACAGTTGACCACGTACTCCTGCCCAGCTACCCAGGTGACCATGGTGCCTGCCTCTGGGGTCAGCAGGAGCAGCTTGGGAGGAACTGGTGAGAGAAGGGTCTGGGGTAAGCTTCCAGCACTGAGAAGGACTTGAAGATTGGAGTTCGGTACCCAGAGTCTGGGAGAGGAGAGGCTGGGGGCTTGGACTTCCGGGTTGCGGGGTAGGGGAGGGCTTGAAGCCCAGACTCATGGGTCCTGGGCGTCTCTCACCCATACCCAGGATGGAGAGGATCACTCTGGGAGACACGAGCTCGGGCCCCATCTCAGAGCGGCCGACCTGGCACT 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CGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGACTTCAGGTGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACCTCAGAATCTTTAGTACTTTTCAAGAAATTTAATCTTTTTCCAAGATTGCCCAAGATTCTGAAGGAGAGAAGGGGCCTGGTCCTTCCCCCACATTCCTGGCCACCCCCATAGCCCTGGCGTGGCACCAACCTTGTACCACATGAGGGAGGGCTCTGGGTTGCCCCCGATAGCCAAACACACCAGCCTCACCCGGGTCCCAGCCCGGAGCTTCTGGCCCTCTGGGGGACCCTCAATCCACAGTTTCTGGGCGGGATCTGGCGGGGAGAGGAAGGAAGAATGACTTTTTCTCTGTGCTGGGTCCTGAGGCTTGGGGGCATTGCTGGGCCAGGGCAGGGGCTCACATTTTACGTTCAGGATGAGCGACTTCTTGAAGGTCTCCTTGGTGAAGGCTTCACTGAAGGCCTCACATGTGAGGGTCAGACCGTTGTCCTCCCGCCGCGCCAGGAATGTCAGGTTGGACATGGAGATGTGACCGCCATGCAGTCCCTGGCAGGGAGTGAGCTTCAGACGTGGGGACTGCAGCACCCCTATCCATCGTGCTAGAGGCCTGAGTCCATCCCAGTCCCCAGCAGGGACACAGGAGACATCTCTACCTCCCCCTCTGTTGGACCCATGGTCCTCAAGGAGAAAGCCCCCCAGGCTGCTGGACCCACCCCTTCCCTATCCACGAGTCATGCCCTCAGCCCCCTCCATGCTCAGACCCAGGAGCCTGGCCCCCGCCTCACATCCATGACTGTCTCCTCCATGGGCAGCAGCTGCCGCCAGCCCAGCCACCATCGTAGCAGAACCCGCGGGCGACTGGACTTGCTGACACAGGAGAGTGTCACGTTCTTGTTCTCAGTCTGGGATGCAGATCCCAAGATAATAATGGCACTAGGGGGAACTGCAGGGACAGAGAAGGAAGACACTAAGCTGGGCTGGATTTCTCACAGACCAGCCCAGACAGAACAGGACTGGAGACAGATGCTGAGATCTTTGGCATCCAGTAGGCATAATTTGGGGGCACACACAGATGGTTCTCTGAGGCACAGACCGACAGGGGGGCAGCTGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCAGCCACTGCAGTGTGGCTAAGGGATTACCCCCTCGGGCCACGCGCGGCAGCTCCAAGCTCTGTCCTGCCCGCACGTGCCCCTCATCCAGGCCTGGCCACTCGATGACAGGGGGTCCTGGAGGGACTGGGGGATATCAGTCACTCAGTGGGCCTGGAGTAGCCCATCCACTCTTTCCAGGCCCCACAACCTGCCTTTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGCTGGTTGCTGCCGCCCTCGATGTGCCCTCGCATCCACTGGGTCCCACACTGGCCTCAGCATCTCCCCACACCTTCTCCTGGGTCCCCATCCCAGGGATGACATCTTTTCTGGGGCCCTTAGAAGGGTACTGGTCAGGAACACACACCCTTCCCACTCCAGAGGCTTCATGCTGCCCCCTGCCACCCAGTTCACCCACACTCACTCAGGAGAATGGTGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACACAGTTGACCACGTACTCCTGCCCAGCTACCCAGGTGACCATGGTGCCTGCCTCTGGGGTCAGCAGGAGCAGCTTGGGAGGAACTGGTGAGAGAAGGGTCTGGGGTAAGCTTCCAGCACTGAGAAGGACTTGAAGATTGGAGTTCGGTACCCAGAGTCTGGGAGAGGAGAGGCTGGGGGCTTGGACTTCCGGGTTGCGGGGTAGGGGAGGGCTTGAAGCCCAGACTCATGGGTCCTGGGCGTCTCTCACCCATACCCAGGATGGAGAGGATCACTCTGGGAGACACGAGCTCGGGCCCCATCTCAGAGCGGCCGACCTGGCACT 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Task1_train_27051 | A sequence alteration has been identified in NPHS1 (NPHS1 adhesion molecule, nephrin) on Chromosome 19. Is it disease-inducing or harmless? | Pathogenic; not provided | TGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCAGCCACTGCAGTGTGGCTAAGGGATTACCCCCTCGGGCCACGCACGGCAGCTCCAAGCTCTGTCCTGCCCGCACGTGCCCCTCATCCAGGCCTGGCCACTCGATGACAGGGGGTCCTGGAGGGACTGGGGGATATCAGTCACTCAGTGGGCCTGGAGTAGCCCATCCACTCTTTCCAGGCCCCACAACCTGCCTTTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGCTGGTTGCTGCCGCCCTCGATGTGCCCTCGCATCCACTGGGTCCCACACTGGCCTCAGCATCTCCCCACACCTTCTCCTGGGTCCCCATCCCAGGGATGACATCTTTTCTGGGGCCCTTAGAAGGGTACTGGTCAGGAACACACACCCTTCCCACTCCAGAGGCTTCATGCTGCCCCCTGCCACCCAGTTCACCCACACTCACTCAGGAGAATGGTGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACACAGTTGACCACGTACTCCTGCCCAGCTACCCAGGTGACCATGGTGCCTGCCTCTGGGGTCAGCAGGAGCAGCTTGGGAGGAACTGGTGAGAGAAGGGTCTGGGGTAAGCTTCCAGCACTGAGAAGGACTTGAAGATTGGAGTTCGGTACCCAGAGTCTGGGAGAGGAGAGGCTGGGGGCTTGGACTTCCGGGTTGCGGGGTAGGGGAGGGCTTGAAGCCCAGACTCATGGGTCCTGGGCGTCTCTCACCCATACCCAGGATGGAGAGGATCACTCTGGGAGACACGAGCTCGGGCCCCATCTCAGAGCGGCCGACCTGGCACTCATACTCCGCGTCATCGCTGAGGTCACAGGCCTCGATGTGCAGGTGGAATTCACCTGCAGGGGGAGCCGGAAGTCAGGGCCGCAGCTTCCGCTGGTGGCTGAGGGTCTCAGGCTCTGATCCCTTACCTCTAGCAGGGTCCCCTTCCAGGCGGTACCTCGGGAAGCCTGGGATCCTGGGGTCGGGGCCCAGGAGCAGCCCATCTTTGGCCCATTGCACCGCACTGCCAGGGGTGCTGACCCCACAACGCAGCTCCACTGAGGCCCCCTCCACCACCGTCAGGTTTTCAGGCAGGGCCCAGAAGCCCCGGGGAACGGAGGCAGGAATCGCCAACTGCGCCAGGCCTGAGGACACAGCGCGGTGCAAGGAAAGGGCAGAGGGTTTGTCTAGGGAAGGTAAGTGGGAAATGGGGGCCACTTGGCGCTGGGTACAAGGCTGGGATCCCACTCACCTTCAGTCAGCAGCCCCAGGAGCAGGAGAGAAGCCCTGAGCGTCGTCCCCAGGGCCATCACAGGTCCCCCTACTGTGACCCCCACAGCGCCCGCTGCCAGCCACCTGCGTCTGTCTGGCTTTCTCTGGGTCCCTCTCTGTGTGTCTCTGCCACCTGCTTTTCTTTTTTATCTCTTTCCGTTACTCTCCTCCCTTTCTCGTTTTCCTCTTCCCCTCTTCCCTGTGAGTATCTCTCTCTGTCTTGCTCTCAGTCTCAATCTCTGAGTCTCTTTCTCTGTCTCTTTAAAAAAACTTTTTTTTCTTTTTTCTTTTTTTTTTCTTTTTTTTTTTTTTAGAGACGGGGTCTCACTATGTTGGCCAGGTTGATCTCAGACTCTTTCCTTCAAGCCATCCTCCCACCTTGGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGTCTCTTTATCTTTCCATCTTTCTCTCCTTGTCTAAGCCGTTCTCTCTCCTTTTGTCTCTGTCTCTTCCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCAATCTCTATCTTCTCTCCTGCCACCCCTCACTCCTGCTCCTTGTCTCACTACTCACAGCCTTTCAAGAAGGACCTGCAGCCCAGAGTCCAGCAGGCCAGGAGCCTAGGAGAGCGATGAGGCTGATGCAGGCACTGGCAGAGTCAGCCCTGCTCTCTGACCCAGCTTGAGCTCATTCTCACAGTGCAACCTCCCCCAGGTACCTTCCAGAGCCCCCAGCTCTGGCCTCTGCCCAGCAGGCTCCTCCCAGCTGGCCCAGCTGGAGCATAAAATCCCCTGTCAGCACATGCCAGGCGCGTTCCTCGGTGCCTCCCCAGCCTCCGTGACCCCAGGGCCTGGCTTAGGCTGGGAAGATGGGAGAAGTCAGATCAAGGTGGTCTCCCAGCTCAGCAGGGGAGCAGCCAGCTGGGCCCCCAGCTCTTCCTTGCCCTGATACATGACCTTGGCAAGTCTCTTTCTTTCTTTCTTTCTTTTCTTGAGATAGTCTTGCTCTGTTGCTCAGGCTGGAGTGCAGTGGCATCTCGGCTCACTGCAACTTCCACCTCCCATGGCTTGAACCTCCCAGGTTCAAGTAATTCTCCCACCTCTGTCTCCCAAGTAGCTGGTGCTACAGGTATATAGCACCATGCCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTCATCATGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAGGTGATCCATCTGCCTCAGCCTCCCA 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TGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCAGCCACTGCAGTGTGGCTAAGGGATTACCCCCTCGGGCCACGCACGGCAGCTCCAAGCTCTGTCCTGCCCGCACGTGCCCCTCATCCAGGCCTGGCCACTCGATGACAGGGGGTCCTGGAGGGACTGGGGGATATCAGTCACTCAGTGGGCCTGGAGTAGCCCATCCACTCTTTCCAGGCCCCACAACCTGCCTTTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGCTGGTTGCTGCCGCCCTCGATGTGCCCTCGCATCCACTGGGTCCCACACTGGCCTCAGCATCTCCCCACACCTTCTCCTGGGTCCCCATCCCAGGGATGACATCTTTTCTGGGGCCCTTAGAAGGGTACTGGTCAGGAACACACACCCTTCCCACTCCAGAGGCTTCATGCTGCCCCCTGCCACCCAGTTCACCCACACTCACTCAGGAGAATGGTGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACATAGTTGACCACGTACTCCTGCCCAGCTACCCAGGTGACCATGGTGCCTGCCTCTGGGGTCAGCAGGAGCAGCTTGGGAGGAACTGGTGAGAGAAGGGTCTGGGGTAAGCTTCCAGCACTGAGAAGGACTTGAAGATTGGAGTTCGGTACCCAGAGTCTGGGAGAGGAGAGGCTGGGGGCTTGGACTTCCGGGTTGCGGGGTAGGGGAGGGCTTGAAGCCCAGACTCATGGGTCCTGGGCGTCTCTCACCCATACCCAGGATGGAGAGGATCACTCTGGGAGACACGAGCTCGGGCCCCATCTCAGAGCGGCCGACCTGGCACTCATACTCCGCGTCATCGCTGAGGTCACAGGCCTCGATGTGCAGGTGGAATTCACCTGCAGGGGGAGCCGGAAGTCAGGGCCGCAGCTTCCGCTGGTGGCTGAGGGTCTCAGGCTCTGATCCCTTACCTCTAGCAGGGTCCCCTTCCAGGCGGTACCTCGGGAAGCCTGGGATCCTGGGGTCGGGGCCCAGGAGCAGCCCATCTTTGGCCCATTGCACCGCACTGCCAGGGGTGCTGACCCCACAACGCAGCTCCACTGAGGCCCCCTCCACCACCGTCAGGTTTTCAGGCAGGGCCCAGAAGCCCCGGGGAACGGAGGCAGGAATCGCCAACTGCGCCAGGCCTGAGGACACAGCGCGGTGCAAGGAAAGGGCAGAGGGTTTGTCTAGGGAAGGTAAGTGGGAAATGGGGGCCACTTGGCGCTGGGTACAAGGCTGGGATCCCACTCACCTTCAGTCAGCAGCCCCAGGAGCAGGAGAGAAGCCCTGAGCGTCGTCCCCAGGGCCATCACAGGTCCCCCTACTGTGACCCCCACAGCGCCCGCTGCCAGCCACCTGCGTCTGTCTGGCTTTCTCTGGGTCCCTCTCTGTGTGTCTCTGCCACCTGCTTTTCTTTTTTATCTCTTTCCGTTACTCTCCTCCCTTTCTCGTTTTCCTCTTCCCCTCTTCCCTGTGAGTATCTCTCTCTGTCTTGCTCTCAGTCTCAATCTCTGAGTCTCTTTCTCTGTCTCTTTAAAAAAACTTTTTTTTCTTTTTTCTTTTTTTTTTCTTTTTTTTTTTTTTAGAGACGGGGTCTCACTATGTTGGCCAGGTTGATCTCAGACTCTTTCCTTCAAGCCATCCTCCCACCTTGGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGTCTCTTTATCTTTCCATCTTTCTCTCCTTGTCTAAGCCGTTCTCTCTCCTTTTGTCTCTGTCTCTTCCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCAATCTCTATCTTCTCTCCTGCCACCCCTCACTCCTGCTCCTTGTCTCACTACTCACAGCCTTTCAAGAAGGACCTGCAGCCCAGAGTCCAGCAGGCCAGGAGCCTAGGAGAGCGATGAGGCTGATGCAGGCACTGGCAGAGTCAGCCCTGCTCTCTGACCCAGCTTGAGCTCATTCTCACAGTGCAACCTCCCCCAGGTACCTTCCAGAGCCCCCAGCTCTGGCCTCTGCCCAGCAGGCTCCTCCCAGCTGGCCCAGCTGGAGCATAAAATCCCCTGTCAGCACATGCCAGGCGCGTTCCTCGGTGCCTCCCCAGCCTCCGTGACCCCAGGGCCTGGCTTAGGCTGGGAAGATGGGAGAAGTCAGATCAAGGTGGTCTCCCAGCTCAGCAGGGGAGCAGCCAGCTGGGCCCCCAGCTCTTCCTTGCCCTGATACATGACCTTGGCAAGTCTCTTTCTTTCTTTCTTTCTTTTCTTGAGATAGTCTTGCTCTGTTGCTCAGGCTGGAGTGCAGTGGCATCTCGGCTCACTGCAACTTCCACCTCCCATGGCTTGAACCTCCCAGGTTCAAGTAATTCTCCCACCTCTGTCTCCCAAGTAGCTGGTGCTACAGGTATATAGCACCATGCCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTCATCATGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAGGTGATCCATCTGCCTCAGCCTCCCA 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Task1_train_27052 | An alteration has been detected in KIRREL2, NPHS1 (kirre like nephrin family adhesion molecule 2| NPHS1 adhesion molecule, nephrin) on Chromosome 19. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | GGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGCTGGTTGCTGCCGCCCTCGATGTGCCCTCGCATCCACTGGGTCCCACACTGGCCTCAGCATCTCCCCACACCTTCTCCTGGGTCCCCATCCCAGGGATGACATCTTTTCTGGGGCCCTTAGAAGGGTACTGGTCAGGAACACACACCCTTCCCACTCCAGAGGCTTCATGCTGCCCCCTGCCACCCAGTTCACCCACACTCACTCAGGAGAATGGTGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACACAGTTGACCACGTACTCCTGCCCAGCTACCCAGGTGACCATGGTGCCTGCCTCTGGGGTCAGCAGGAGCAGCTTGGGAGGAACTGGTGAGAGAAGGGTCTGGGGTAAGCTTCCAGCACTGAGAAGGACTTGAAGATTGGAGTTCGGTACCCAGAGTCTGGGAGAGGAGAGGCTGGGGGCTTGGACTTCCGGGTTGCGGGGTAGGGGAGGGCTTGAAGCCCAGACTCATGGGTCCTGGGCGTCTCTCACCCATACCCAGGATGGAGAGGATCACTCTGGGAGACACGAGCTCGGGCCCCATCTCAGAGCGGCCGACCTGGCACTCATACTCCGCGTCATCGCTGAGGTCACAGGCCTCGATGTGCAGGTGGAATTCACCTGCAGGGGGAGCCGGAAGTCAGGGCCGCAGCTTCCGCTGGTGGCTGAGGGTCTCAGGCTCTGATCCCTTACCTCTAGCAGGGTCCCCTTCCAGGCGGTACCTCGGGAAGCCTGGGATCCTGGGGTCGGGGCCCAGGAGCAGCCCATCTTTGGCCCATTGCACCGCACTGCCAGGGGTGCTGACCCCACAACGCAGCTCCACTGAGGCCCCCTCCACCACCGTCAGGTTTTCAGGCAGGGCCCAGAAGCCCCGGGGAACGGAGGCAGGAATCGCCAACTGCGCCAGGCCTGAGGACACAGCGCGGTGCAAGGAAAGGGCAGAGGGTTTGTCTAGGGAAGGTAAGTGGGAAATGGGGGCCACTTGGCGCTGGGTACAAGGCTGGGATCCCACTCACCTTCAGTCAGCAGCCCCAGGAGCAGGAGAGAAGCCCTGAGCGTCGTCCCCAGGGCCATCACAGGTCCCCCTACTGTGACCCCCACAGCGCCCGCTGCCAGCCACCTGCGTCTGTCTGGCTTTCTCTGGGTCCCTCTCTGTGTGTCTCTGCCACCTGCTTTTCTTTTTTATCTCTTTCCGTTACTCTCCTCCCTTTCTCGTTTTCCTCTTCCCCTCTTCCCTGTGAGTATCTCTCTCTGTCTTGCTCTCAGTCTCAATCTCTGAGTCTCTTTCTCTGTCTCTTTAAAAAAACTTTTTTTTCTTTTTTCTTTTTTTTTTCTTTTTTTTTTTTTTAGAGACGGGGTCTCACTATGTTGGCCAGGTTGATCTCAGACTCTTTCCTTCAAGCCATCCTCCCACCTTGGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGTCTCTTTATCTTTCCATCTTTCTCTCCTTGTCTAAGCCGTTCTCTCTCCTTTTGTCTCTGTCTCTTCCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCAATCTCTATCTTCTCTCCTGCCACCCCTCACTCCTGCTCCTTGTCTCACTACTCACAGCCTTTCAAGAAGGACCTGCAGCCCAGAGTCCAGCAGGCCAGGAGCCTAGGAGAGCGATGAGGCTGATGCAGGCACTGGCAGAGTCAGCCCTGCTCTCTGACCCAGCTTGAGCTCATTCTCACAGTGCAACCTCCCCCAGGTACCTTCCAGAGCCCCCAGCTCTGGCCTCTGCCCAGCAGGCTCCTCCCAGCTGGCCCAGCTGGAGCATAAAATCCCCTGTCAGCACATGCCAGGCGCGTTCCTCGGTGCCTCCCCAGCCTCCGTGACCCCAGGGCCTGGCTTAGGCTGGGAAGATGGGAGAAGTCAGATCAAGGTGGTCTCCCAGCTCAGCAGGGGAGCAGCCAGCTGGGCCCCCAGCTCTTCCTTGCCCTGATACATGACCTTGGCAAGTCTCTTTCTTTCTTTCTTTCTTTTCTTGAGATAGTCTTGCTCTGTTGCTCAGGCTGGAGTGCAGTGGCATCTCGGCTCACTGCAACTTCCACCTCCCATGGCTTGAACCTCCCAGGTTCAAGTAATTCTCCCACCTCTGTCTCCCAAGTAGCTGGTGCTACAGGTATATAGCACCATGCCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTCATCATGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAGGTGATCCATCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGACATGAGCCACCGCACCTGGCCTCCCTTCCTTTTTTAGTAGACATCAGTGCCTAAATGATGTCAGGGATCTCTGCTGGGGAGGATGCAAGAGTGAGTGTGACAGGCTGGGAGAGTGTGGGAGAGAGGGAAGATATGCATGTGTGTACGTGGGTGTGAGAGTGGGGAAGGTTAGAGTGAACTGCGATCTGTAATAAGCATGTGGAGAGCGTGTGTGTGACAGTGTCTTACGTGGGAGTGCACAGGGTGTGGGCGGGAGTAAAAGGCAGAGTCCAATTCCACCGGCCCCCAGTGTGGGTGCAGTGTGAGCCCAAAGTGGGCGCCCTTTGGCAAGGACTGCATGAGCTTTCTTCTCCCTCTTTTTCTTGCCCTCTCTCCCATCTCTTCTTTCCTTCTCCATGTCTCTCTCTCTCCCTCCCTCTATCTATCTTGATTTATCTTTCTTTCTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGGGCAGTGGCATGATCTTGGTTCATTGCAGCCTCAACTTCCTGGGCTCAGGTGATCCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTGCACACCACCACTCCAGCTAATTTTTTAAAATTTGTTTGTAGAGACAGGGTCTTTCTCTATTGCCCAGGCTGGAGTGCAGTGGTGTGATCATGGCTCATTGAAGCCTCAAACCTCCTAGGCTCAAGTGTTCTTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCCCGCATCACCACTCTGGCTATTTTTTTTTTTTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTC 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GGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGCTGGTTGCTGCCGCCCTCGATGTGCCCTCGCATCCACTGGGTCCCACACTGGCCTCAGCATCTCCCCACACCTTCTCCTGGGTCCCCATCCCAGGGATGACATCTTTTCTGGGGCCCTTAGAAGGGTACTGGTCAGGAACACACACCCTTCCCACTCCAGAGGCTTCATGCTGCCCCCTGCCACCCAGTTCACCCACACTCACTCAGGAGAATGGTGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACACAGTTGACCACGTACTCCTGCCCAGCTACCCAGGTGACCATGGTGCCTGCCTCTGGGGTCAGCAGGAGCAGCTTGGGAGGAACTGGTGAGAGAAGGGTCTGGGGTAAGCTTCCAGCACTGAGAAGGACTTGAAGATTGGAGTTCGGTACCCAGAGTCTGGGAGAGGAGAGGCTGGGGGCTTGGACTTCCGGGTTGCGGGGTAGGGGAGGGCTTGAAGCCCAGACTCATGGGTCCTGGGCGTCTCTCACCCATACCCAGGATGGAGAGGATCACTCTGGGAGACACGAGCTCGGGCCCCATCTCAGAGCGGCCGACCTGGCACTCATACTCCGCGTCATCGCTGAGGTCACAGGCCTCGATGTGCAGGTGGAATTCACCTGCAGGGGGAGCCGGAAGTCAGGGCCGCAGCTTCCGCTGGTGGCTGAGGGTCTCAGGCTCTGATCCCTTACCTCTAGCAGGGTCCCCTTCCAGGCGGTACCTCGGGAAGCCTGGGATCCTGGGGTCGGGGCCCAGGAGCAGCCCATCTTTGGCCCATTGCACCGCACTGCCAGGGGTGCTGACCCCACAACGCAGCTCCACTGAGGCCCCCTCCACCACCGTCAGGTTTTCAGGCAGGGCCCAGAAGCCCCGGGGAACGGAGGCAGGAATCGCCAACTGCGCCAGGCCTGAGGACACAGCGCGGTGCAAGGAAAGGGCAGAGGGTTTGTCTAGGGAAGGTAAGTGGGAAATGGGGGCCACTTGGCGCTGGGTACAAGGCTGGGATCCCACTCACCTTCAGTCAGCAGCCCCAGGAGCAGGAGAGAAGCCCTGAGCGTCGTCCCCAGGGCCGTCACAGGTCCCCCTACTGTGACCCCCACAGCGCCCGCTGCCAGCCACCTGCGTCTGTCTGGCTTTCTCTGGGTCCCTCTCTGTGTGTCTCTGCCACCTGCTTTTCTTTTTTATCTCTTTCCGTTACTCTCCTCCCTTTCTCGTTTTCCTCTTCCCCTCTTCCCTGTGAGTATCTCTCTCTGTCTTGCTCTCAGTCTCAATCTCTGAGTCTCTTTCTCTGTCTCTTTAAAAAAACTTTTTTTTCTTTTTTCTTTTTTTTTTCTTTTTTTTTTTTTTAGAGACGGGGTCTCACTATGTTGGCCAGGTTGATCTCAGACTCTTTCCTTCAAGCCATCCTCCCACCTTGGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGTCTCTTTATCTTTCCATCTTTCTCTCCTTGTCTAAGCCGTTCTCTCTCCTTTTGTCTCTGTCTCTTCCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCAATCTCTATCTTCTCTCCTGCCACCCCTCACTCCTGCTCCTTGTCTCACTACTCACAGCCTTTCAAGAAGGACCTGCAGCCCAGAGTCCAGCAGGCCAGGAGCCTAGGAGAGCGATGAGGCTGATGCAGGCACTGGCAGAGTCAGCCCTGCTCTCTGACCCAGCTTGAGCTCATTCTCACAGTGCAACCTCCCCCAGGTACCTTCCAGAGCCCCCAGCTCTGGCCTCTGCCCAGCAGGCTCCTCCCAGCTGGCCCAGCTGGAGCATAAAATCCCCTGTCAGCACATGCCAGGCGCGTTCCTCGGTGCCTCCCCAGCCTCCGTGACCCCAGGGCCTGGCTTAGGCTGGGAAGATGGGAGAAGTCAGATCAAGGTGGTCTCCCAGCTCAGCAGGGGAGCAGCCAGCTGGGCCCCCAGCTCTTCCTTGCCCTGATACATGACCTTGGCAAGTCTCTTTCTTTCTTTCTTTCTTTTCTTGAGATAGTCTTGCTCTGTTGCTCAGGCTGGAGTGCAGTGGCATCTCGGCTCACTGCAACTTCCACCTCCCATGGCTTGAACCTCCCAGGTTCAAGTAATTCTCCCACCTCTGTCTCCCAAGTAGCTGGTGCTACAGGTATATAGCACCATGCCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTCATCATGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAGGTGATCCATCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGACATGAGCCACCGCACCTGGCCTCCCTTCCTTTTTTAGTAGACATCAGTGCCTAAATGATGTCAGGGATCTCTGCTGGGGAGGATGCAAGAGTGAGTGTGACAGGCTGGGAGAGTGTGGGAGAGAGGGAAGATATGCATGTGTGTACGTGGGTGTGAGAGTGGGGAAGGTTAGAGTGAACTGCGATCTGTAATAAGCATGTGGAGAGCGTGTGTGTGACAGTGTCTTACGTGGGAGTGCACAGGGTGTGGGCGGGAGTAAAAGGCAGAGTCCAATTCCACCGGCCCCCAGTGTGGGTGCAGTGTGAGCCCAAAGTGGGCGCCCTTTGGCAAGGACTGCATGAGCTTTCTTCTCCCTCTTTTTCTTGCCCTCTCTCCCATCTCTTCTTTCCTTCTCCATGTCTCTCTCTCTCCCTCCCTCTATCTATCTTGATTTATCTTTCTTTCTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGGGCAGTGGCATGATCTTGGTTCATTGCAGCCTCAACTTCCTGGGCTCAGGTGATCCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTGCACACCACCACTCCAGCTAATTTTTTAAAATTTGTTTGTAGAGACAGGGTCTTTCTCTATTGCCCAGGCTGGAGTGCAGTGGTGTGATCATGGCTCATTGAAGCCTCAAACCTCCTAGGCTCAAGTGTTCTTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCCCGCATCACCACTCTGGCTATTTTTTTTTTTTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTC 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Task1_train_27053 | The gene TYROBP (transmembrane immune signaling adaptor TYROBP), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 | CCCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCTGAGAAGCTGGAATTACAGGCGCATGACACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCCTGGCCTGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGTGCCACCATGCCTGGCCAAAAAAAAATTTTTTTTAATTATAAAGAACATTTACACTGCTCTCAGATTATATGCACAATTTTGTATTTTTTGTGTAGATTTTTCTGGGAGTCTAGATTTTCTTAGTTTCTCAAAGGGATGAAGGGTCCTCAAACCCAAAAAAGAGATTCTAGGACTCCTCTCTTTAGAGTTACCAAGGTAGGGCTGAATGACATTCTCTGCCCTACTGAGAGCGTCTCCCAGAAATCAGTCGTCCTAGGGCTGGGTTTCTTCCAGAAAATTCCTGGCCTGACTTCTGGCAAGGCCTGTGTTTACACTTACAAAGGCAAAGCCACCCTTTTTTTTTTCTTTTTAACTCTTCACGCTTTTTTTTTTTTGACAGAGTTTTCCTCTTGTTGCCCAGGCTGGAGTGCAATTGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTCAAAGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGTTACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCTGTCTCCCAAAGTGCTGGGATTACAGGTTTGAGTCACCGTGCCCAGCCCCTCTTCACACATTTTAAGCTGACCATAAGCTTGTGGTTGATCATTCGGCCCAGTTTTGGACAGATGTCCCATGTGCCTTCAAGGTTTGGGGGTGCTTTAGGCAGAGTGGCTTTGAGGTCCCTCTGATGGCATGAAGGAGTATCTGGGGCAGATATCCCTGGCAGGAGTGAAATGTGAGGAGGACAGTCTGGTTTTCTCACCTGATAAGGCGACTCGGTCTCAGTGATACGCTGTTTCCGGGTCGCTGCTGGAGGTGAGGGGTGTTGTGGGGTGCAGAGACAGGCAGAGTGGTGAGTTGAGGGTGTTTTGTCATTCCAAATCAGCACCTCCATTACCATCCCTTTGGATGTTTGAGATCTGGGAGTTTACCCAGCCCCCCACCCCCATCTAGGCAAGTCCTCAGGATGTCCCCTGCTAGCCCCACTCACCCTCCGCAGCCCCTCGCCCCCGAGGGACCAGCCGGCCCAGGAAGTACACGGCCAGGGCAATGAGCACTGTCAGCACCAGGTCTCCCATCACGATCCCTGCCAGCACGCCCGGGCTCACCGTAGAGCAACTGCAATCTGCAGCACAGGGGTCAGGGGAGGTCAGTGTGTGCTGGGAACTGTGGGGAGGGGGGTCAGCGGCAGGGAGGTTTGGAAAGGGTGTGGGAGAGACGGAGACAGGGAGGTCTCTGGGAGGTAGAGAGAGGGACTGCTGGGTCTAGGCCTACCGCTCTGGGCCTGGGCCTGGACAGGACGGAGACCTGAGGAGGAAAAAGAAGGTAAACTGAGGCACAGAGTTATGACGGGGGTGGGGGAGGCAAGTTTAGAAGCCAGGGAAGGTGGATCCTGACAGCCAAGAGGTTAGCAAGGGGGAGAGCGTGTCTGGCGGGACTCAGGGGGCTGGCGTCTGGGCCACCGGACTATGTGCGTTACTTCTGCACAACTTGTCCTGTGGCAACACACTTAGATGTCTCTTCTCCCCTGCTTGTAGCGGACGACAAAACTTGGGGGCTTGGGCTCTGGGAGAAACCCACAGGCTTTGGGAGGTTGGGGACCTGCTCCCATCCCAACACCCACTTTTGGTTCTCTCGTTCCACCCCACTCCCTGCCCTGCCCCAAGCTGAGCCCAGGGACCCGGGAGGCAGCCACGGAAGCCCCTAACTCACCACTTACAGCCAGCAGGAGAGGCAGGAGCAGGAGCCTGCTGCAGGGTTCAAGTCCCCCCATGAAGCCGGATGCTGCTGGACACCACAGTGTAAGGGCCGGTGGGATGTGGCGCAGCGTCCAGGCAAGTGAAGGAGGAAGTCTGAGGCGGGTGGTGGCAGAAGGGAGGAGGAGACAGGGGAGGAGAGACAGAAACAAAACCCAAGAAAGAATCAGGCCCAGACACCCAGGGGCCATGCCACAGGCCCCCAGCAACTAGACGTGAAGGGCAAAGGGTACGTGAAGCACAAACTTCACCTCCGTCCCCAGTCAGGGGTCAGACATCGTTTTAACAGGAGGGTCAGTGTCATGACCTTCCTCTGGCTGATTGAAACCAGCTCTGCCTCTTCCTGGCTGGTCAACCTTGAGTGCAATGGCACGGTCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGCCTGCCACCATGCCCGGCTAATTTTTTGTATTTTTTTTTCTTTTTTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCGAAGTGCTAGGATTGCAAGTGTGAGCCACCGCACCCAGCTCCAACCTCAGTTTCTTCATCTGTAAAATTGGGAGTAAAATGGGACCTACTTTTTAGAGTTGTGGGGATTAAATGAATTAAAGTTCCTAGACCAGGGTCTGACCCTTGTCAGCTTTTTAAAAGCATCAGCTATGATGATGATTATTTAATCATCAGAAACTTGTGCTGTTTAAAGGATATTAAAAGAGCCAGCAGCATGTGGGCACTAATGACATGCAGGCACTCTGTCCCAAGCGTTAAATCATTCAGTCCCCGCAATGCCCTTCTAGGGCACATGCTCTTATCATCCCCATTGTTCAGAGAGGTAGAGACGCTTGCCTAAGGCTGCACAGCAAATCAAGGTGGAAATGGAACCCAAGACCCAAAATCAGGTTTTTGACTAGGGAAGAGTCAGGGGGAAAAACAAAGATGAAAGATGGGGAAGGAGAAAACAGCGGCAAAGCTGAGAAAGGTGAGAGTAAGGCAGTGGCACAGACACAGAGGCACGGCTGGCGGCTTGGGGAGAGGCAGGTGGCTGGCTCTCCTGCTGAATGAGGAAGTGGCTGGGAGCAAGGCCCAAGGGAGGCCACCCCAAGGAGACGGGGACTTCTAGCCCCCAGCTGGAGCCTGGGGCTGGGGAAGGAGGAACCTGAGGTTAGGGTGCTGGAGGATGAGACAGCTGCAGGAAGCCCCCCTCCCCCATCCACACGTCACACCCACCGCTCCTTGGGCCTGGGCTTAGGAGAAAAAAGGGGAAACTGGATTCTGGTCACAGGGCAGATGCCCAGTGGCCTGTGGGGGAAGGGAGGAGAGGAGATTTGGAGCCTGGAGGAGGGTCAGGTCCCAGCTCAGCCCACGGTCACCACTGTTCAGGCCTGGCTGAGTCCCCTCCCTTAAAAACCCAAGCCTCTCCCATTGTGTCTAGAGCGAGCATGGAGGGAACAGACCCTGTAGGTCCTCCCGGGCACACCAGGCCACCCAATGTGTTGGAGCAGAGTGGGCGAGGGGGCAGTCAGAGACCAGAGCAGGGCTCTGAGCCAGGAGGGCCCTGACCTGACTCAGGGGTTCACAGGTTCCCTCCGGCCGCAGGTGGGGAGCAGACTGTGGAGGCAGGGACTGGAGCAGGGAGGCCAGGCTGCTGGGATATTTGTGAGGATATTGTGAGGTCTATTAGAATAATGCCTGGTTGAGTTCAAGACCAGCCCGGCCAGCATGGTGAAACCCCATCTCTACTAAAAATTAGGCTGGGCACGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATTACCTGGGCATGGTGGTGGGCACCTGTAGTCCCAGCTACTCAGAAGGCTGAGGCAAGACAATACCTTGAACCTGGAAGGTGGAGG 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CCCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCTGAGAAGCTGGAATTACAGGCGCATGACACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCCTGGCCTGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGTGCCACCATGCCTGGCCAAAAAAAAATTTTTTTTAATTATAAAGAACATTTACACTGCTCTCAGATTATATGCACAATTTTGTATTTTTTGTGTAGATTTTTCTGGGAGTCTAGATTTTCTTAGTTTCTCAAAGGGATGAAGGGTCCTCAAACCCAAAAAAGAGATTCTAGGACTCCTCTCTTTAGAGTTACCAAGGTAGGGCTGAATGACATTCTCTGCCCTACTGAGAGCGTCTCCCAGAAATCAGTCGTCCTAGGGCTGGGTTTCTTCCAGAAAATTCCTGGCCTGACTTCTGGCAAGGCCTGTGTTTACACTTACAAAGGCAAAGCCACCCTTTTTTTTTTCTTTTTAACTCTTCACGCTTTTTTTTTTTTGACAGAGTTTTCCTCTTGTTGCCCAGGCTGGAGTGCAATTGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTCAAAGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGTTACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCTGTCTCCCAAAGTGCTGGGATTACAGGTTTGAGTCACCGTGCCCAGCCCCTCTTCACACATTTTAAGCTGACCATAAGCTTGTGGTTGATCATTCGGCCCAGTTTTGGACAGATGTCCCATGTGCCTTCAAGGTTTGGGGGTGCTTTAGGCAGAGTGGCTTTGAGGTCCCTCTGATGGCATGAAGGAGTATCTGGGGCAGATATCCCTGGCAGGAGTGAAATGTGAGGAGGACAGTCTGGTTTTCTCACCTGATAAGGCGACTCGGTCTCAGTGATACGCTGTTTCCGGGTCGCTGCTGGAGGTGAGGGGTGTTGTGGGGTGCAGAGACAGGCAGAGTGGTGAGTTGAGGGTGTTTTGTCATTCCAAATCAGCACCTCCATTACCATCCCTTTGGATGTTTGAGATCTGGGAGTTTACCCAGCCCCCCACCCCCATCTAGGCAAGTCCTCAGGATGTCCCCTGCTAGCCCCACTCACCCTCCGCAGCCCCTCGCCCCCGAGGGACCAGCCGGCCCAGGAAGTACACGGCCAGGGCAATGAGCACTGTCAGCACCAGGTCTCCCATCACGATCCCTGCCAGCACGCCCGGGCTCACCGTAGAGCAACTGCAATCTGCAGCACAGGGGTCAGGGGAGGTCAGTGTGTGCTGGGAACTGTGGGGAGGGGGGTCAGCGGCAGGGAGGTTTGGAAAGGGTGTGGGAGAGACGGAGACAGGGAGGTCTCTGGGAGGTAGAGAGAGGGACTGCTGGGTCTAGGCCTACCGCTCTGGGCCTGGGCCTGGACAGGACGGAGACCTGAGGAGGAAAAAGAAGGTAAACTGAGGCACAGAGTTATGACGGGGGTGGGGGAGGCAAGTTTAGAAGCCAGGGAAGGTGGATCCTGACAGCCAAGAGGTTAGCAAGGGGGAGAGCGTGTCTGGCGGGACTCAGGGGGCTGGCGTCTGGGCCACCGGACTATGTGCGTTACTTCTGCACAACTTGTCCTGTGGCAACACACTTAGATGTCTCTTCTCCCCTGCTTGTAGCGGACGACAAAACTTGGGGGCTTGGGCTCTGGGAGAAACCCACAGGCTTTGGGAGGTTGGGGACCTGCTCCCATCCCAACACCCACTTTTGGTTCTCTCGTTCCACCCCACTCCCTGCCCTGCCCCAAGCTGAGCCCAGGGACCCGGGAGGCAGCCACGGAAGCCCCTAACTCACCACTTACAGCCAGCAGGAGAGGCAGGAGCAGGAGCCTGCTGCAGGGTTCAAGTCCCCCCGTGAAGCCGGATGCTGCTGGACACCACAGTGTAAGGGCCGGTGGGATGTGGCGCAGCGTCCAGGCAAGTGAAGGAGGAAGTCTGAGGCGGGTGGTGGCAGAAGGGAGGAGGAGACAGGGGAGGAGAGACAGAAACAAAACCCAAGAAAGAATCAGGCCCAGACACCCAGGGGCCATGCCACAGGCCCCCAGCAACTAGACGTGAAGGGCAAAGGGTACGTGAAGCACAAACTTCACCTCCGTCCCCAGTCAGGGGTCAGACATCGTTTTAACAGGAGGGTCAGTGTCATGACCTTCCTCTGGCTGATTGAAACCAGCTCTGCCTCTTCCTGGCTGGTCAACCTTGAGTGCAATGGCACGGTCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGCCTGCCACCATGCCCGGCTAATTTTTTGTATTTTTTTTTCTTTTTTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCGAAGTGCTAGGATTGCAAGTGTGAGCCACCGCACCCAGCTCCAACCTCAGTTTCTTCATCTGTAAAATTGGGAGTAAAATGGGACCTACTTTTTAGAGTTGTGGGGATTAAATGAATTAAAGTTCCTAGACCAGGGTCTGACCCTTGTCAGCTTTTTAAAAGCATCAGCTATGATGATGATTATTTAATCATCAGAAACTTGTGCTGTTTAAAGGATATTAAAAGAGCCAGCAGCATGTGGGCACTAATGACATGCAGGCACTCTGTCCCAAGCGTTAAATCATTCAGTCCCCGCAATGCCCTTCTAGGGCACATGCTCTTATCATCCCCATTGTTCAGAGAGGTAGAGACGCTTGCCTAAGGCTGCACAGCAAATCAAGGTGGAAATGGAACCCAAGACCCAAAATCAGGTTTTTGACTAGGGAAGAGTCAGGGGGAAAAACAAAGATGAAAGATGGGGAAGGAGAAAACAGCGGCAAAGCTGAGAAAGGTGAGAGTAAGGCAGTGGCACAGACACAGAGGCACGGCTGGCGGCTTGGGGAGAGGCAGGTGGCTGGCTCTCCTGCTGAATGAGGAAGTGGCTGGGAGCAAGGCCCAAGGGAGGCCACCCCAAGGAGACGGGGACTTCTAGCCCCCAGCTGGAGCCTGGGGCTGGGGAAGGAGGAACCTGAGGTTAGGGTGCTGGAGGATGAGACAGCTGCAGGAAGCCCCCCTCCCCCATCCACACGTCACACCCACCGCTCCTTGGGCCTGGGCTTAGGAGAAAAAAGGGGAAACTGGATTCTGGTCACAGGGCAGATGCCCAGTGGCCTGTGGGGGAAGGGAGGAGAGGAGATTTGGAGCCTGGAGGAGGGTCAGGTCCCAGCTCAGCCCACGGTCACCACTGTTCAGGCCTGGCTGAGTCCCCTCCCTTAAAAACCCAAGCCTCTCCCATTGTGTCTAGAGCGAGCATGGAGGGAACAGACCCTGTAGGTCCTCCCGGGCACACCAGGCCACCCAATGTGTTGGAGCAGAGTGGGCGAGGGGGCAGTCAGAGACCAGAGCAGGGCTCTGAGCCAGGAGGGCCCTGACCTGACTCAGGGGTTCACAGGTTCCCTCCGGCCGCAGGTGGGGAGCAGACTGTGGAGGCAGGGACTGGAGCAGGGAGGCCAGGCTGCTGGGATATTTGTGAGGATATTGTGAGGTCTATTAGAATAATGCCTGGTTGAGTTCAAGACCAGCCCGGCCAGCATGGTGAAACCCCATCTCTACTAAAAATTAGGCTGGGCACGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATTACCTGGGCATGGTGGTGGGCACCTGTAGTCCCAGCTACTCAGAAGGCTGAGGCAAGACAATACCTTGAACCTGGAAGGTGGAGG 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Task1_train_27054 | Here is a variant affecting LOC130064280, SDHAF1 (ATAC-STARR-seq lymphoblastoid silent region 10545| succinate dehydrogenase complex assembly factor 1) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Mitochondrial complex 2 deficiency, nuclear type 2 | GGGCCACATAGCAAGACCCTGTCTCTAAAAACAAAACAAAAAATAAATATTTAAAATTCCAGAGTGAAGCCTGGGCAACACAGCGAGACTCTGTCTCTACAAAAAACAATAAAAGAAGAATTAGCCGGGTGTGGTGGGATGTTCACGTAATCCTAACCACTGGACATGTTGAGGCGAGAGGATTGCTTGATCCCAGGAGATCAAGGCTGTAGTTTCACCAATATGGTGAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCCAGTGTGCTGGCACATACCTGTAATTCCAGCTACTGGGGAGGCTGAGGTAGGGAGAATCACTTGAACCTAGAGGCAGAAGTTTCACCATGTGGATCAGGCTGGTGTCGATCTCCCGACCTCAGGTGGTCCGCCCGCCTCGGCCTCCAAAAGTGCTGGAATTACAGGTGTGAGCCACCGTTCTAGGACATGTATTTTTGATAGATACATACACCTGCCAGGCAGGATTCACAGTGGTTTGTGATTCTCCCCTGACTCCAAGACTCCAAGCCTAATCCCCGCCCCTGACCAGCTTCTCCTCTCTGAAGGGGAATGGACCCCCCAGCTGGTTGCCGGCCCAAGTGTGCAGAGCCGCGGTTGCGCGCTGGGTGGAGGGGTCCCCCAAGCTCCGGTGCTGGTGGGGCCCGAGGATGCTGTGTCCTTGCGGGCCTCCCTAGCGCTACGAGGACACCTCCAGGCGGCCCGCGGGGACAACAACGGCATTGCGGCCTACCACCTAAAGCTCCTGGGAGGACAACGGGGTTGCAGTCTAGTCGACTGTTCAGGGTGTCCCGGACTCCGGGCTTTAACAGTCGGTAAGGACCCAAACACCGCTGTCCACTGCCCCGACTCCCACCCGCAGAGGGCGCGACCAACCCAGCTCCTAGAGCCACACGCTGCCTCTGGGGGCTTGGCGCCCACACTCTCTCTGCTTGTCTTCCCCTGGCCCGAGAAGCCTGTCCAACCGGCCGAGAGCCATTTCCCTACGGGGTCTCGTCCCTCTGCACGTGCCCAGGGCTGGGACCCCAGACACAGACCTGCCCCGGACGAGGGAACGCACGGAGCTTCCCAAGATGGTTTGAATCAGTAACTGACGGCAAAAGCACGCTTGTGCCCGGCGTCTCTCCCAGTGCCCCGTGCCCTTGGGACCCAAAGTCCGAACCGGTAGCCGGGCGCGGTGGCTCACGCCTGGAATCCCAACACTTTGGGAGGCTGAGAATCGTTTGAGCCCAGGAGTTCGAGCCATTCTGGGCAACATAGGGAGACCCATCTCTGCAAATAATAATAATAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAGCGGGCGCGGTTGCGCGCGTCTGTGGTTCCAGCTACTAGGGGAGTTGAGGTGGGAGGATCGCTTGGGCCCAGGAGTTCGAGGCTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACCCCGTCACACACAAAAAAACCCCTAGCTTCCTCTTCTCCCAGAATGCAGGAGTTAGGTGAGGACCCTCTGTTCCCTCCAACCCAAGACCTAGGAGTCCGAACACATAACGCCCTCCAGGCGGTGCCAGGATCCCCAGAACTGCTGTCCCCTCAAGAACACACGTCCCCTACGTGGGAGGCCGCGACCAGCGACTCCGCCCACTTCTCCCAGCCGGCTGTTACGTAACTGCAACGACAGCCAGTCAGACGCGGCAGCGCCGGATGGCGGGAGGCGGGAGTTGGAGGCCAAGGGAAGCGCTGGGCGGAAGTGGCTGTGGCTTTGCCCTTTGGCCTTTGCTGGCTGTGTGGCGGCTCCGCGGTTCGCAGGTCGTTCGCTGAGCGTCTCTGCTTAGCCGCGGTCATGAGCCGGCACAGCCGGCTGCAGAGGCAGGTTCTGAGCCTGTACCGCGATCTGCTGCGCGCCGGGCGTGGGAAGCCGGGCGCCGAGGCGCGAGTGCGGGCAGAGTTCCGGCAGCATGCGGGCCTGCCGCGGTCCGACGTGCTGCGCATCGAGTACCTGTACCGCCGCGGGCGGCGCCAGCTGCAGCTGCTACGCTCGGGCCACGCCACCGCCATGGGCGCCTTCGTACGCCCGCGGGCCCCGACCGGGGAGCCTGGCGGCGTGGGTTGCCAGCCTGACGACGGCGACAGTCCAAGGAACCCCCACGACAGCACGGGGGCACCGGAGACCCGCCCCGACGGACGGTGACAGGCGAAGAGCCGAACTCGCTCGATGGCGTGGTGGAGCCAGGAGGCTCGCCTGACTGCATGGGGGGACTGGGGAACCCGCCTAAGGTGAGAGGTCTTAAGAGACTAGCTTGACGAATTGGGGATGTCAGAGACTCCTCCTTGGCGACGCAGGGGGCCTAGAGAGCCCCGTGATGGACGGCAAGGGAGGCCCGCCTTTTCCGATGCTTGGAGACAGGTCGGTGCTCCTCCCCCATGAGGGCTTGGGGCGGCCTGGGACGCTGGCGGGCTGGACAGTGTCAAGCCAAGAGCTACTTGCCCGAAGGTACGGGGAGCCAGGACGACCCCCGGTGGACAGGGAGAGCCTGAGACGCCCTTCTCTTGACCCCTGAGAACATACCCACTTCTGGCTCCTCAAGGAGTCTCCCCTCTCCTGTATTTAACTCTGAGAAGTGCAGACTTTTTGCTGAGAACGTTTTGGGAAGGTGCCCTGATGAGCGGTGAGAAGCCCGGAATCCCCTTCTGGAAAACTTTCCCCCATTAATTGTGACAAGCCAGGACCATGAGGAAGGGGTAGGGGTCTATCACCCTGGTTGATCAACTGAAGACCCCCAAAGGCCCCTACTTGATGGTTTTGAGGGGCAACATTGACTCATTTGCCCCTTCCCTCTCGGAATGTTGGACAAAGGGAATAAAATTGGGGATATGTCTACTTCCCTGTTGGTGGTCTTAAAGCTTTTATATATTTCAGGATTTTTGAAACACCCCCAGCCCCCCTGCCACCACACACACACGCACACAGACACCTGGAAGGGACCATCTGGGAGGTGATAGGTGTGGGGATCTGACTCCTTCCGGAGCCCTGTAGACTGGCACATTGATTGAAGCGGCATAGTTTTCTCCCCTGGGCAGATCTGTGGAGGGGGCTCATCCTGGCTTAACCCCCAAAGATACCCCAGTTGGCTCCCTAATGGAGGGCAAGTGATTTAACATCTTTGTGTGGAAGAGGAAATGGTGGAGCTGAGAACTGGCTCGGAGCCCCTGAGGCAGTAGTGAGGGTCTCAGACCTGGAAATTTCTCAAACCTGGCTGAAGGGTCCAGCCTCAGCTACAGTGAACGACAAGGCCCTGGGGCAGGAGAGGGGAGATGAACCCCATAGATCACAGATATACTCCCTCCGGTGTCCCCATATGGGCCTGCCCTAGACATTCTGTGGAGGGATGCATTTTGCATCGCTGAGCTATATTTGCACCCATATCAGTTAAATAAGTGGAAATGAGTTCTTGTGGATGTAGCTGTGGGTAGGAGGACCACAGGTAAGGAGCATAGACCTCAGACCAAAGGGAGGATGGACGGAAGAGAAACAGTCACTGCCCTAATCCCGGTGGGGGAGCCACATTCCCAAATGGTTATAAAGTGGAATTGCAGTTTGAAGAATTAATTGCCGGGATAGGCTTCTAGGCAAGAAGACCAAGGCTGGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTTGGAGGCCAAGATGGGCGGATCACGAGGTCAGGAGTTCCAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAATGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTACGTCTCAAAAAAAAAAAAAGACCAGTGTGGGGAAAGGCCTGGAGGGGGCAAAGGGAAGAAATGCAGGGTCTCAGGATCTCAGCTGGGGCCCGGAGTGCCCCAGGCACAAGGCTGTGGGTTTACTTGATTGTGGCTTC | GGGCCACATAGCAAGACCCTGTCTCTAAAAACAAAACAAAAAATAAATATTTAAAATTCCAGAGTGAAGCCTGGGCAACACAGCGAGACTCTGTCTCTACAAAAAACAATAAAAGAAGAATTAGCCGGGTGTGGTGGGATGTTCACGTAATCCTAACCACTGGACATGTTGAGGCGAGAGGATTGCTTGATCCCAGGAGATCAAGGCTGTAGTTTCACCAATATGGTGAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCCAGTGTGCTGGCACATACCTGTAATTCCAGCTACTGGGGAGGCTGAGGTAGGGAGAATCACTTGAACCTAGAGGCAGAAGTTTCACCATGTGGATCAGGCTGGTGTCGATCTCCCGACCTCAGGTGGTCCGCCCGCCTCGGCCTCCAAAAGTGCTGGAATTACAGGTGTGAGCCACCGTTCTAGGACATGTATTTTTGATAGATACATACACCTGCCAGGCAGGATTCACAGTGGTTTGTGATTCTCCCCTGACTCCAAGACTCCAAGCCTAATCCCCGCCCCTGACCAGCTTCTCCTCTCTGAAGGGGAATGGACCCCCCAGCTGGTTGCCGGCCCAAGTGTGCAGAGCCGCGGTTGCGCGCTGGGTGGAGGGGTCCCCCAAGCTCCGGTGCTGGTGGGGCCCGAGGATGCTGTGTCCTTGCGGGCCTCCCTAGCGCTACGAGGACACCTCCAGGCGGCCCGCGGGGACAACAACGGCATTGCGGCCTACCACCTAAAGCTCCTGGGAGGACAACGGGGTTGCAGTCTAGTCGACTGTTCAGGGTGTCCCGGACTCCGGGCTTTAACAGTCGGTAAGGACCCAAACACCGCTGTCCACTGCCCCGACTCCCACCCGCAGAGGGCGCGACCAACCCAGCTCCTAGAGCCACACGCTGCCTCTGGGGGCTTGGCGCCCACACTCTCTCTGCTTGTCTTCCCCTGGCCCGAGAAGCCTGTCCAACCGGCCGAGAGCCATTTCCCTACGGGGTCTCGTCCCTCTGCACGTGCCCAGGGCTGGGACCCCAGACACAGACCTGCCCCGGACGAGGGAACGCACGGAGCTTCCCAAGATGGTTTGAATCAGTAACTGACGGCAAAAGCACGCTTGTGCCCGGCGTCTCTCCCAGTGCCCCGTGCCCTTGGGACCCAAAGTCCGAACCGGTAGCCGGGCGCGGTGGCTCACGCCTGGAATCCCAACACTTTGGGAGGCTGAGAATCGTTTGAGCCCAGGAGTTCGAGCCATTCTGGGCAACATAGGGAGACCCATCTCTGCAAATAATAATAATAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAGCGGGCGCGGTTGCGCGCGTCTGTGGTTCCAGCTACTAGGGGAGTTGAGGTGGGAGGATCGCTTGGGCCCAGGAGTTCGAGGCTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACCCCGTCACACACAAAAAAACCCCTAGCTTCCTCTTCTCCCAGAATGCAGGAGTTAGGTGAGGACCCTCTGTTCCCTCCAACCCAAGACCTAGGAGTCCGAACACATAACGCCCTCCAGGCGGTGCCAGGATCCCCAGAACTGCTGTCCCCTCAAGAACACACGTCCCCTACGTGGGAGGCCGCGACCAGCGACTCCGCCCACTTCTCCCAGCCGGCTGTTACGTAACTGCAACGACAGCCAGTCAGACGCGGCAGCGCCGGATGGCGGGAGGCGGGAGTTGGAGGCCAAGGGAAGCGCTGGGCGGAAGTGGCTGTGGCTTTGCCCTTTGGCCTTTGCTGGCTGTGTGGCGGCTCCGCGGTTCGCAGGTCGTTCGCTGAGCGTCTCTGCTTAGCCGCGGTCATGAGCCGGCACAGCCGGCTGCAGAGGCAGGTTCTGAGCCTGTACCGCGATCTGCTGCGCGCCGGGCGTGGGAAGCCGGGCGCCGAGGCGCGAGTGCGGGCAGAGTTCCGGCAGCATGCGGGCCTGCCGCGGTCCGACGTGCTGCGCATCGAGTACCTGTACCCCCGCGGGCGGCGCCAGCTGCAGCTGCTACGCTCGGGCCACGCCACCGCCATGGGCGCCTTCGTACGCCCGCGGGCCCCGACCGGGGAGCCTGGCGGCGTGGGTTGCCAGCCTGACGACGGCGACAGTCCAAGGAACCCCCACGACAGCACGGGGGCACCGGAGACCCGCCCCGACGGACGGTGACAGGCGAAGAGCCGAACTCGCTCGATGGCGTGGTGGAGCCAGGAGGCTCGCCTGACTGCATGGGGGGACTGGGGAACCCGCCTAAGGTGAGAGGTCTTAAGAGACTAGCTTGACGAATTGGGGATGTCAGAGACTCCTCCTTGGCGACGCAGGGGGCCTAGAGAGCCCCGTGATGGACGGCAAGGGAGGCCCGCCTTTTCCGATGCTTGGAGACAGGTCGGTGCTCCTCCCCCATGAGGGCTTGGGGCGGCCTGGGACGCTGGCGGGCTGGACAGTGTCAAGCCAAGAGCTACTTGCCCGAAGGTACGGGGAGCCAGGACGACCCCCGGTGGACAGGGAGAGCCTGAGACGCCCTTCTCTTGACCCCTGAGAACATACCCACTTCTGGCTCCTCAAGGAGTCTCCCCTCTCCTGTATTTAACTCTGAGAAGTGCAGACTTTTTGCTGAGAACGTTTTGGGAAGGTGCCCTGATGAGCGGTGAGAAGCCCGGAATCCCCTTCTGGAAAACTTTCCCCCATTAATTGTGACAAGCCAGGACCATGAGGAAGGGGTAGGGGTCTATCACCCTGGTTGATCAACTGAAGACCCCCAAAGGCCCCTACTTGATGGTTTTGAGGGGCAACATTGACTCATTTGCCCCTTCCCTCTCGGAATGTTGGACAAAGGGAATAAAATTGGGGATATGTCTACTTCCCTGTTGGTGGTCTTAAAGCTTTTATATATTTCAGGATTTTTGAAACACCCCCAGCCCCCCTGCCACCACACACACACGCACACAGACACCTGGAAGGGACCATCTGGGAGGTGATAGGTGTGGGGATCTGACTCCTTCCGGAGCCCTGTAGACTGGCACATTGATTGAAGCGGCATAGTTTTCTCCCCTGGGCAGATCTGTGGAGGGGGCTCATCCTGGCTTAACCCCCAAAGATACCCCAGTTGGCTCCCTAATGGAGGGCAAGTGATTTAACATCTTTGTGTGGAAGAGGAAATGGTGGAGCTGAGAACTGGCTCGGAGCCCCTGAGGCAGTAGTGAGGGTCTCAGACCTGGAAATTTCTCAAACCTGGCTGAAGGGTCCAGCCTCAGCTACAGTGAACGACAAGGCCCTGGGGCAGGAGAGGGGAGATGAACCCCATAGATCACAGATATACTCCCTCCGGTGTCCCCATATGGGCCTGCCCTAGACATTCTGTGGAGGGATGCATTTTGCATCGCTGAGCTATATTTGCACCCATATCAGTTAAATAAGTGGAAATGAGTTCTTGTGGATGTAGCTGTGGGTAGGAGGACCACAGGTAAGGAGCATAGACCTCAGACCAAAGGGAGGATGGACGGAAGAGAAACAGTCACTGCCCTAATCCCGGTGGGGGAGCCACATTCCCAAATGGTTATAAAGTGGAATTGCAGTTTGAAGAATTAATTGCCGGGATAGGCTTCTAGGCAAGAAGACCAAGGCTGGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTTGGAGGCCAAGATGGGCGGATCACGAGGTCAGGAGTTCCAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAATGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTACGTCTCAAAAAAAAAAAAAGACCAGTGTGGGGAAAGGCCTGGAGGGGGCAAAGGGAAGAAATGCAGGGTCTCAGGATCTCAGCTGGGGCCCGGAGTGCCCCAGGCACAAGGCTGTGGGTTTACTTGATTGTGGCTTC 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Task1_train_27055 | This alteration in LOC130064280, SDHAF1 (ATAC-STARR-seq lymphoblastoid silent region 10545| succinate dehydrogenase complex assembly factor 1) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Mitochondrial complex 2 deficiency, nuclear type 2 | ACATAGCAAGACCCTGTCTCTAAAAACAAAACAAAAAATAAATATTTAAAATTCCAGAGTGAAGCCTGGGCAACACAGCGAGACTCTGTCTCTACAAAAAACAATAAAAGAAGAATTAGCCGGGTGTGGTGGGATGTTCACGTAATCCTAACCACTGGACATGTTGAGGCGAGAGGATTGCTTGATCCCAGGAGATCAAGGCTGTAGTTTCACCAATATGGTGAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCCAGTGTGCTGGCACATACCTGTAATTCCAGCTACTGGGGAGGCTGAGGTAGGGAGAATCACTTGAACCTAGAGGCAGAAGTTTCACCATGTGGATCAGGCTGGTGTCGATCTCCCGACCTCAGGTGGTCCGCCCGCCTCGGCCTCCAAAAGTGCTGGAATTACAGGTGTGAGCCACCGTTCTAGGACATGTATTTTTGATAGATACATACACCTGCCAGGCAGGATTCACAGTGGTTTGTGATTCTCCCCTGACTCCAAGACTCCAAGCCTAATCCCCGCCCCTGACCAGCTTCTCCTCTCTGAAGGGGAATGGACCCCCCAGCTGGTTGCCGGCCCAAGTGTGCAGAGCCGCGGTTGCGCGCTGGGTGGAGGGGTCCCCCAAGCTCCGGTGCTGGTGGGGCCCGAGGATGCTGTGTCCTTGCGGGCCTCCCTAGCGCTACGAGGACACCTCCAGGCGGCCCGCGGGGACAACAACGGCATTGCGGCCTACCACCTAAAGCTCCTGGGAGGACAACGGGGTTGCAGTCTAGTCGACTGTTCAGGGTGTCCCGGACTCCGGGCTTTAACAGTCGGTAAGGACCCAAACACCGCTGTCCACTGCCCCGACTCCCACCCGCAGAGGGCGCGACCAACCCAGCTCCTAGAGCCACACGCTGCCTCTGGGGGCTTGGCGCCCACACTCTCTCTGCTTGTCTTCCCCTGGCCCGAGAAGCCTGTCCAACCGGCCGAGAGCCATTTCCCTACGGGGTCTCGTCCCTCTGCACGTGCCCAGGGCTGGGACCCCAGACACAGACCTGCCCCGGACGAGGGAACGCACGGAGCTTCCCAAGATGGTTTGAATCAGTAACTGACGGCAAAAGCACGCTTGTGCCCGGCGTCTCTCCCAGTGCCCCGTGCCCTTGGGACCCAAAGTCCGAACCGGTAGCCGGGCGCGGTGGCTCACGCCTGGAATCCCAACACTTTGGGAGGCTGAGAATCGTTTGAGCCCAGGAGTTCGAGCCATTCTGGGCAACATAGGGAGACCCATCTCTGCAAATAATAATAATAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAGCGGGCGCGGTTGCGCGCGTCTGTGGTTCCAGCTACTAGGGGAGTTGAGGTGGGAGGATCGCTTGGGCCCAGGAGTTCGAGGCTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACCCCGTCACACACAAAAAAACCCCTAGCTTCCTCTTCTCCCAGAATGCAGGAGTTAGGTGAGGACCCTCTGTTCCCTCCAACCCAAGACCTAGGAGTCCGAACACATAACGCCCTCCAGGCGGTGCCAGGATCCCCAGAACTGCTGTCCCCTCAAGAACACACGTCCCCTACGTGGGAGGCCGCGACCAGCGACTCCGCCCACTTCTCCCAGCCGGCTGTTACGTAACTGCAACGACAGCCAGTCAGACGCGGCAGCGCCGGATGGCGGGAGGCGGGAGTTGGAGGCCAAGGGAAGCGCTGGGCGGAAGTGGCTGTGGCTTTGCCCTTTGGCCTTTGCTGGCTGTGTGGCGGCTCCGCGGTTCGCAGGTCGTTCGCTGAGCGTCTCTGCTTAGCCGCGGTCATGAGCCGGCACAGCCGGCTGCAGAGGCAGGTTCTGAGCCTGTACCGCGATCTGCTGCGCGCCGGGCGTGGGAAGCCGGGCGCCGAGGCGCGAGTGCGGGCAGAGTTCCGGCAGCATGCGGGCCTGCCGCGGTCCGACGTGCTGCGCATCGAGTACCTGTACCGCCGCGGGCGGCGCCAGCTGCAGCTGCTACGCTCGGGCCACGCCACCGCCATGGGCGCCTTCGTACGCCCGCGGGCCCCGACCGGGGAGCCTGGCGGCGTGGGTTGCCAGCCTGACGACGGCGACAGTCCAAGGAACCCCCACGACAGCACGGGGGCACCGGAGACCCGCCCCGACGGACGGTGACAGGCGAAGAGCCGAACTCGCTCGATGGCGTGGTGGAGCCAGGAGGCTCGCCTGACTGCATGGGGGGACTGGGGAACCCGCCTAAGGTGAGAGGTCTTAAGAGACTAGCTTGACGAATTGGGGATGTCAGAGACTCCTCCTTGGCGACGCAGGGGGCCTAGAGAGCCCCGTGATGGACGGCAAGGGAGGCCCGCCTTTTCCGATGCTTGGAGACAGGTCGGTGCTCCTCCCCCATGAGGGCTTGGGGCGGCCTGGGACGCTGGCGGGCTGGACAGTGTCAAGCCAAGAGCTACTTGCCCGAAGGTACGGGGAGCCAGGACGACCCCCGGTGGACAGGGAGAGCCTGAGACGCCCTTCTCTTGACCCCTGAGAACATACCCACTTCTGGCTCCTCAAGGAGTCTCCCCTCTCCTGTATTTAACTCTGAGAAGTGCAGACTTTTTGCTGAGAACGTTTTGGGAAGGTGCCCTGATGAGCGGTGAGAAGCCCGGAATCCCCTTCTGGAAAACTTTCCCCCATTAATTGTGACAAGCCAGGACCATGAGGAAGGGGTAGGGGTCTATCACCCTGGTTGATCAACTGAAGACCCCCAAAGGCCCCTACTTGATGGTTTTGAGGGGCAACATTGACTCATTTGCCCCTTCCCTCTCGGAATGTTGGACAAAGGGAATAAAATTGGGGATATGTCTACTTCCCTGTTGGTGGTCTTAAAGCTTTTATATATTTCAGGATTTTTGAAACACCCCCAGCCCCCCTGCCACCACACACACACGCACACAGACACCTGGAAGGGACCATCTGGGAGGTGATAGGTGTGGGGATCTGACTCCTTCCGGAGCCCTGTAGACTGGCACATTGATTGAAGCGGCATAGTTTTCTCCCCTGGGCAGATCTGTGGAGGGGGCTCATCCTGGCTTAACCCCCAAAGATACCCCAGTTGGCTCCCTAATGGAGGGCAAGTGATTTAACATCTTTGTGTGGAAGAGGAAATGGTGGAGCTGAGAACTGGCTCGGAGCCCCTGAGGCAGTAGTGAGGGTCTCAGACCTGGAAATTTCTCAAACCTGGCTGAAGGGTCCAGCCTCAGCTACAGTGAACGACAAGGCCCTGGGGCAGGAGAGGGGAGATGAACCCCATAGATCACAGATATACTCCCTCCGGTGTCCCCATATGGGCCTGCCCTAGACATTCTGTGGAGGGATGCATTTTGCATCGCTGAGCTATATTTGCACCCATATCAGTTAAATAAGTGGAAATGAGTTCTTGTGGATGTAGCTGTGGGTAGGAGGACCACAGGTAAGGAGCATAGACCTCAGACCAAAGGGAGGATGGACGGAAGAGAAACAGTCACTGCCCTAATCCCGGTGGGGGAGCCACATTCCCAAATGGTTATAAAGTGGAATTGCAGTTTGAAGAATTAATTGCCGGGATAGGCTTCTAGGCAAGAAGACCAAGGCTGGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTTGGAGGCCAAGATGGGCGGATCACGAGGTCAGGAGTTCCAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAATGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTACGTCTCAAAAAAAAAAAAAGACCAGTGTGGGGAAAGGCCTGGAGGGGGCAAAGGGAAGAAATGCAGGGTCTCAGGATCTCAGCTGGGGCCCGGAGTGCCCCAGGCACAAGGCTGTGGGTTTACTTGATTGTGGCTTCTACTT | ACATAGCAAGACCCTGTCTCTAAAAACAAAACAAAAAATAAATATTTAAAATTCCAGAGTGAAGCCTGGGCAACACAGCGAGACTCTGTCTCTACAAAAAACAATAAAAGAAGAATTAGCCGGGTGTGGTGGGATGTTCACGTAATCCTAACCACTGGACATGTTGAGGCGAGAGGATTGCTTGATCCCAGGAGATCAAGGCTGTAGTTTCACCAATATGGTGAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCCAGTGTGCTGGCACATACCTGTAATTCCAGCTACTGGGGAGGCTGAGGTAGGGAGAATCACTTGAACCTAGAGGCAGAAGTTTCACCATGTGGATCAGGCTGGTGTCGATCTCCCGACCTCAGGTGGTCCGCCCGCCTCGGCCTCCAAAAGTGCTGGAATTACAGGTGTGAGCCACCGTTCTAGGACATGTATTTTTGATAGATACATACACCTGCCAGGCAGGATTCACAGTGGTTTGTGATTCTCCCCTGACTCCAAGACTCCAAGCCTAATCCCCGCCCCTGACCAGCTTCTCCTCTCTGAAGGGGAATGGACCCCCCAGCTGGTTGCCGGCCCAAGTGTGCAGAGCCGCGGTTGCGCGCTGGGTGGAGGGGTCCCCCAAGCTCCGGTGCTGGTGGGGCCCGAGGATGCTGTGTCCTTGCGGGCCTCCCTAGCGCTACGAGGACACCTCCAGGCGGCCCGCGGGGACAACAACGGCATTGCGGCCTACCACCTAAAGCTCCTGGGAGGACAACGGGGTTGCAGTCTAGTCGACTGTTCAGGGTGTCCCGGACTCCGGGCTTTAACAGTCGGTAAGGACCCAAACACCGCTGTCCACTGCCCCGACTCCCACCCGCAGAGGGCGCGACCAACCCAGCTCCTAGAGCCACACGCTGCCTCTGGGGGCTTGGCGCCCACACTCTCTCTGCTTGTCTTCCCCTGGCCCGAGAAGCCTGTCCAACCGGCCGAGAGCCATTTCCCTACGGGGTCTCGTCCCTCTGCACGTGCCCAGGGCTGGGACCCCAGACACAGACCTGCCCCGGACGAGGGAACGCACGGAGCTTCCCAAGATGGTTTGAATCAGTAACTGACGGCAAAAGCACGCTTGTGCCCGGCGTCTCTCCCAGTGCCCCGTGCCCTTGGGACCCAAAGTCCGAACCGGTAGCCGGGCGCGGTGGCTCACGCCTGGAATCCCAACACTTTGGGAGGCTGAGAATCGTTTGAGCCCAGGAGTTCGAGCCATTCTGGGCAACATAGGGAGACCCATCTCTGCAAATAATAATAATAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAGCGGGCGCGGTTGCGCGCGTCTGTGGTTCCAGCTACTAGGGGAGTTGAGGTGGGAGGATCGCTTGGGCCCAGGAGTTCGAGGCTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACCCCGTCACACACAAAAAAACCCCTAGCTTCCTCTTCTCCCAGAATGCAGGAGTTAGGTGAGGACCCTCTGTTCCCTCCAACCCAAGACCTAGGAGTCCGAACACATAACGCCCTCCAGGCGGTGCCAGGATCCCCAGAACTGCTGTCCCCTCAAGAACACACGTCCCCTACGTGGGAGGCCGCGACCAGCGACTCCGCCCACTTCTCCCAGCCGGCTGTTACGTAACTGCAACGACAGCCAGTCAGACGCGGCAGCGCCGGATGGCGGGAGGCGGGAGTTGGAGGCCAAGGGAAGCGCTGGGCGGAAGTGGCTGTGGCTTTGCCCTTTGGCCTTTGCTGGCTGTGTGGCGGCTCCGCGGTTCGCAGGTCGTTCGCTGAGCGTCTCTGCTTAGCCGCGGTCATGAGCCGGCACAGCCGGCTGCAGAGGCAGGTTCTGAGCCTGTACCGCGATCTGCTGCGCGCCGGGCGTGGGAAGCCGGGCGCCGAGGCGCGAGTGCGGGCAGAGTTCCGGCAGCATGCGGGCCTGCCGCGGTCCGACGTGCTGCGCATCGAGTACCTGTACCGCCGCCGGCGGCGCCAGCTGCAGCTGCTACGCTCGGGCCACGCCACCGCCATGGGCGCCTTCGTACGCCCGCGGGCCCCGACCGGGGAGCCTGGCGGCGTGGGTTGCCAGCCTGACGACGGCGACAGTCCAAGGAACCCCCACGACAGCACGGGGGCACCGGAGACCCGCCCCGACGGACGGTGACAGGCGAAGAGCCGAACTCGCTCGATGGCGTGGTGGAGCCAGGAGGCTCGCCTGACTGCATGGGGGGACTGGGGAACCCGCCTAAGGTGAGAGGTCTTAAGAGACTAGCTTGACGAATTGGGGATGTCAGAGACTCCTCCTTGGCGACGCAGGGGGCCTAGAGAGCCCCGTGATGGACGGCAAGGGAGGCCCGCCTTTTCCGATGCTTGGAGACAGGTCGGTGCTCCTCCCCCATGAGGGCTTGGGGCGGCCTGGGACGCTGGCGGGCTGGACAGTGTCAAGCCAAGAGCTACTTGCCCGAAGGTACGGGGAGCCAGGACGACCCCCGGTGGACAGGGAGAGCCTGAGACGCCCTTCTCTTGACCCCTGAGAACATACCCACTTCTGGCTCCTCAAGGAGTCTCCCCTCTCCTGTATTTAACTCTGAGAAGTGCAGACTTTTTGCTGAGAACGTTTTGGGAAGGTGCCCTGATGAGCGGTGAGAAGCCCGGAATCCCCTTCTGGAAAACTTTCCCCCATTAATTGTGACAAGCCAGGACCATGAGGAAGGGGTAGGGGTCTATCACCCTGGTTGATCAACTGAAGACCCCCAAAGGCCCCTACTTGATGGTTTTGAGGGGCAACATTGACTCATTTGCCCCTTCCCTCTCGGAATGTTGGACAAAGGGAATAAAATTGGGGATATGTCTACTTCCCTGTTGGTGGTCTTAAAGCTTTTATATATTTCAGGATTTTTGAAACACCCCCAGCCCCCCTGCCACCACACACACACGCACACAGACACCTGGAAGGGACCATCTGGGAGGTGATAGGTGTGGGGATCTGACTCCTTCCGGAGCCCTGTAGACTGGCACATTGATTGAAGCGGCATAGTTTTCTCCCCTGGGCAGATCTGTGGAGGGGGCTCATCCTGGCTTAACCCCCAAAGATACCCCAGTTGGCTCCCTAATGGAGGGCAAGTGATTTAACATCTTTGTGTGGAAGAGGAAATGGTGGAGCTGAGAACTGGCTCGGAGCCCCTGAGGCAGTAGTGAGGGTCTCAGACCTGGAAATTTCTCAAACCTGGCTGAAGGGTCCAGCCTCAGCTACAGTGAACGACAAGGCCCTGGGGCAGGAGAGGGGAGATGAACCCCATAGATCACAGATATACTCCCTCCGGTGTCCCCATATGGGCCTGCCCTAGACATTCTGTGGAGGGATGCATTTTGCATCGCTGAGCTATATTTGCACCCATATCAGTTAAATAAGTGGAAATGAGTTCTTGTGGATGTAGCTGTGGGTAGGAGGACCACAGGTAAGGAGCATAGACCTCAGACCAAAGGGAGGATGGACGGAAGAGAAACAGTCACTGCCCTAATCCCGGTGGGGGAGCCACATTCCCAAATGGTTATAAAGTGGAATTGCAGTTTGAAGAATTAATTGCCGGGATAGGCTTCTAGGCAAGAAGACCAAGGCTGGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTTGGAGGCCAAGATGGGCGGATCACGAGGTCAGGAGTTCCAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAATGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTACGTCTCAAAAAAAAAAAAAGACCAGTGTGGGGAAAGGCCTGGAGGGGGCAAAGGGAAGAAATGCAGGGTCTCAGGATCTCAGCTGGGGCCCGGAGTGCCCCAGGCACAAGGCTGTGGGTTTACTTGATTGTGGCTTCTACTT 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Task1_train_27056 | The gene LOC130064280, SDHAF1 (ATAC-STARR-seq lymphoblastoid silent region 10545| succinate dehydrogenase complex assembly factor 1) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Mitochondrial complex 2 deficiency, nuclear type 2 | CATAGCAAGACCCTGTCTCTAAAAACAAAACAAAAAATAAATATTTAAAATTCCAGAGTGAAGCCTGGGCAACACAGCGAGACTCTGTCTCTACAAAAAACAATAAAAGAAGAATTAGCCGGGTGTGGTGGGATGTTCACGTAATCCTAACCACTGGACATGTTGAGGCGAGAGGATTGCTTGATCCCAGGAGATCAAGGCTGTAGTTTCACCAATATGGTGAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCCAGTGTGCTGGCACATACCTGTAATTCCAGCTACTGGGGAGGCTGAGGTAGGGAGAATCACTTGAACCTAGAGGCAGAAGTTTCACCATGTGGATCAGGCTGGTGTCGATCTCCCGACCTCAGGTGGTCCGCCCGCCTCGGCCTCCAAAAGTGCTGGAATTACAGGTGTGAGCCACCGTTCTAGGACATGTATTTTTGATAGATACATACACCTGCCAGGCAGGATTCACAGTGGTTTGTGATTCTCCCCTGACTCCAAGACTCCAAGCCTAATCCCCGCCCCTGACCAGCTTCTCCTCTCTGAAGGGGAATGGACCCCCCAGCTGGTTGCCGGCCCAAGTGTGCAGAGCCGCGGTTGCGCGCTGGGTGGAGGGGTCCCCCAAGCTCCGGTGCTGGTGGGGCCCGAGGATGCTGTGTCCTTGCGGGCCTCCCTAGCGCTACGAGGACACCTCCAGGCGGCCCGCGGGGACAACAACGGCATTGCGGCCTACCACCTAAAGCTCCTGGGAGGACAACGGGGTTGCAGTCTAGTCGACTGTTCAGGGTGTCCCGGACTCCGGGCTTTAACAGTCGGTAAGGACCCAAACACCGCTGTCCACTGCCCCGACTCCCACCCGCAGAGGGCGCGACCAACCCAGCTCCTAGAGCCACACGCTGCCTCTGGGGGCTTGGCGCCCACACTCTCTCTGCTTGTCTTCCCCTGGCCCGAGAAGCCTGTCCAACCGGCCGAGAGCCATTTCCCTACGGGGTCTCGTCCCTCTGCACGTGCCCAGGGCTGGGACCCCAGACACAGACCTGCCCCGGACGAGGGAACGCACGGAGCTTCCCAAGATGGTTTGAATCAGTAACTGACGGCAAAAGCACGCTTGTGCCCGGCGTCTCTCCCAGTGCCCCGTGCCCTTGGGACCCAAAGTCCGAACCGGTAGCCGGGCGCGGTGGCTCACGCCTGGAATCCCAACACTTTGGGAGGCTGAGAATCGTTTGAGCCCAGGAGTTCGAGCCATTCTGGGCAACATAGGGAGACCCATCTCTGCAAATAATAATAATAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAGCGGGCGCGGTTGCGCGCGTCTGTGGTTCCAGCTACTAGGGGAGTTGAGGTGGGAGGATCGCTTGGGCCCAGGAGTTCGAGGCTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACCCCGTCACACACAAAAAAACCCCTAGCTTCCTCTTCTCCCAGAATGCAGGAGTTAGGTGAGGACCCTCTGTTCCCTCCAACCCAAGACCTAGGAGTCCGAACACATAACGCCCTCCAGGCGGTGCCAGGATCCCCAGAACTGCTGTCCCCTCAAGAACACACGTCCCCTACGTGGGAGGCCGCGACCAGCGACTCCGCCCACTTCTCCCAGCCGGCTGTTACGTAACTGCAACGACAGCCAGTCAGACGCGGCAGCGCCGGATGGCGGGAGGCGGGAGTTGGAGGCCAAGGGAAGCGCTGGGCGGAAGTGGCTGTGGCTTTGCCCTTTGGCCTTTGCTGGCTGTGTGGCGGCTCCGCGGTTCGCAGGTCGTTCGCTGAGCGTCTCTGCTTAGCCGCGGTCATGAGCCGGCACAGCCGGCTGCAGAGGCAGGTTCTGAGCCTGTACCGCGATCTGCTGCGCGCCGGGCGTGGGAAGCCGGGCGCCGAGGCGCGAGTGCGGGCAGAGTTCCGGCAGCATGCGGGCCTGCCGCGGTCCGACGTGCTGCGCATCGAGTACCTGTACCGCCGCGGGCGGCGCCAGCTGCAGCTGCTACGCTCGGGCCACGCCACCGCCATGGGCGCCTTCGTACGCCCGCGGGCCCCGACCGGGGAGCCTGGCGGCGTGGGTTGCCAGCCTGACGACGGCGACAGTCCAAGGAACCCCCACGACAGCACGGGGGCACCGGAGACCCGCCCCGACGGACGGTGACAGGCGAAGAGCCGAACTCGCTCGATGGCGTGGTGGAGCCAGGAGGCTCGCCTGACTGCATGGGGGGACTGGGGAACCCGCCTAAGGTGAGAGGTCTTAAGAGACTAGCTTGACGAATTGGGGATGTCAGAGACTCCTCCTTGGCGACGCAGGGGGCCTAGAGAGCCCCGTGATGGACGGCAAGGGAGGCCCGCCTTTTCCGATGCTTGGAGACAGGTCGGTGCTCCTCCCCCATGAGGGCTTGGGGCGGCCTGGGACGCTGGCGGGCTGGACAGTGTCAAGCCAAGAGCTACTTGCCCGAAGGTACGGGGAGCCAGGACGACCCCCGGTGGACAGGGAGAGCCTGAGACGCCCTTCTCTTGACCCCTGAGAACATACCCACTTCTGGCTCCTCAAGGAGTCTCCCCTCTCCTGTATTTAACTCTGAGAAGTGCAGACTTTTTGCTGAGAACGTTTTGGGAAGGTGCCCTGATGAGCGGTGAGAAGCCCGGAATCCCCTTCTGGAAAACTTTCCCCCATTAATTGTGACAAGCCAGGACCATGAGGAAGGGGTAGGGGTCTATCACCCTGGTTGATCAACTGAAGACCCCCAAAGGCCCCTACTTGATGGTTTTGAGGGGCAACATTGACTCATTTGCCCCTTCCCTCTCGGAATGTTGGACAAAGGGAATAAAATTGGGGATATGTCTACTTCCCTGTTGGTGGTCTTAAAGCTTTTATATATTTCAGGATTTTTGAAACACCCCCAGCCCCCCTGCCACCACACACACACGCACACAGACACCTGGAAGGGACCATCTGGGAGGTGATAGGTGTGGGGATCTGACTCCTTCCGGAGCCCTGTAGACTGGCACATTGATTGAAGCGGCATAGTTTTCTCCCCTGGGCAGATCTGTGGAGGGGGCTCATCCTGGCTTAACCCCCAAAGATACCCCAGTTGGCTCCCTAATGGAGGGCAAGTGATTTAACATCTTTGTGTGGAAGAGGAAATGGTGGAGCTGAGAACTGGCTCGGAGCCCCTGAGGCAGTAGTGAGGGTCTCAGACCTGGAAATTTCTCAAACCTGGCTGAAGGGTCCAGCCTCAGCTACAGTGAACGACAAGGCCCTGGGGCAGGAGAGGGGAGATGAACCCCATAGATCACAGATATACTCCCTCCGGTGTCCCCATATGGGCCTGCCCTAGACATTCTGTGGAGGGATGCATTTTGCATCGCTGAGCTATATTTGCACCCATATCAGTTAAATAAGTGGAAATGAGTTCTTGTGGATGTAGCTGTGGGTAGGAGGACCACAGGTAAGGAGCATAGACCTCAGACCAAAGGGAGGATGGACGGAAGAGAAACAGTCACTGCCCTAATCCCGGTGGGGGAGCCACATTCCCAAATGGTTATAAAGTGGAATTGCAGTTTGAAGAATTAATTGCCGGGATAGGCTTCTAGGCAAGAAGACCAAGGCTGGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTTGGAGGCCAAGATGGGCGGATCACGAGGTCAGGAGTTCCAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAATGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTACGTCTCAAAAAAAAAAAAAGACCAGTGTGGGGAAAGGCCTGGAGGGGGCAAAGGGAAGAAATGCAGGGTCTCAGGATCTCAGCTGGGGCCCGGAGTGCCCCAGGCACAAGGCTGTGGGTTTACTTGATTGTGGCTTCTACTTC 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CATAGCAAGACCCTGTCTCTAAAAACAAAACAAAAAATAAATATTTAAAATTCCAGAGTGAAGCCTGGGCAACACAGCGAGACTCTGTCTCTACAAAAAACAATAAAAGAAGAATTAGCCGGGTGTGGTGGGATGTTCACGTAATCCTAACCACTGGACATGTTGAGGCGAGAGGATTGCTTGATCCCAGGAGATCAAGGCTGTAGTTTCACCAATATGGTGAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCCAGTGTGCTGGCACATACCTGTAATTCCAGCTACTGGGGAGGCTGAGGTAGGGAGAATCACTTGAACCTAGAGGCAGAAGTTTCACCATGTGGATCAGGCTGGTGTCGATCTCCCGACCTCAGGTGGTCCGCCCGCCTCGGCCTCCAAAAGTGCTGGAATTACAGGTGTGAGCCACCGTTCTAGGACATGTATTTTTGATAGATACATACACCTGCCAGGCAGGATTCACAGTGGTTTGTGATTCTCCCCTGACTCCAAGACTCCAAGCCTAATCCCCGCCCCTGACCAGCTTCTCCTCTCTGAAGGGGAATGGACCCCCCAGCTGGTTGCCGGCCCAAGTGTGCAGAGCCGCGGTTGCGCGCTGGGTGGAGGGGTCCCCCAAGCTCCGGTGCTGGTGGGGCCCGAGGATGCTGTGTCCTTGCGGGCCTCCCTAGCGCTACGAGGACACCTCCAGGCGGCCCGCGGGGACAACAACGGCATTGCGGCCTACCACCTAAAGCTCCTGGGAGGACAACGGGGTTGCAGTCTAGTCGACTGTTCAGGGTGTCCCGGACTCCGGGCTTTAACAGTCGGTAAGGACCCAAACACCGCTGTCCACTGCCCCGACTCCCACCCGCAGAGGGCGCGACCAACCCAGCTCCTAGAGCCACACGCTGCCTCTGGGGGCTTGGCGCCCACACTCTCTCTGCTTGTCTTCCCCTGGCCCGAGAAGCCTGTCCAACCGGCCGAGAGCCATTTCCCTACGGGGTCTCGTCCCTCTGCACGTGCCCAGGGCTGGGACCCCAGACACAGACCTGCCCCGGACGAGGGAACGCACGGAGCTTCCCAAGATGGTTTGAATCAGTAACTGACGGCAAAAGCACGCTTGTGCCCGGCGTCTCTCCCAGTGCCCCGTGCCCTTGGGACCCAAAGTCCGAACCGGTAGCCGGGCGCGGTGGCTCACGCCTGGAATCCCAACACTTTGGGAGGCTGAGAATCGTTTGAGCCCAGGAGTTCGAGCCATTCTGGGCAACATAGGGAGACCCATCTCTGCAAATAATAATAATAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAGCGGGCGCGGTTGCGCGCGTCTGTGGTTCCAGCTACTAGGGGAGTTGAGGTGGGAGGATCGCTTGGGCCCAGGAGTTCGAGGCTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACCCCGTCACACACAAAAAAACCCCTAGCTTCCTCTTCTCCCAGAATGCAGGAGTTAGGTGAGGACCCTCTGTTCCCTCCAACCCAAGACCTAGGAGTCCGAACACATAACGCCCTCCAGGCGGTGCCAGGATCCCCAGAACTGCTGTCCCCTCAAGAACACACGTCCCCTACGTGGGAGGCCGCGACCAGCGACTCCGCCCACTTCTCCCAGCCGGCTGTTACGTAACTGCAACGACAGCCAGTCAGACGCGGCAGCGCCGGATGGCGGGAGGCGGGAGTTGGAGGCCAAGGGAAGCGCTGGGCGGAAGTGGCTGTGGCTTTGCCCTTTGGCCTTTGCTGGCTGTGTGGCGGCTCCGCGGTTCGCAGGTCGTTCGCTGAGCGTCTCTGCTTAGCCGCGGTCATGAGCCGGCACAGCCGGCTGCAGAGGCAGGTTCTGAGCCTGTACCGCGATCTGCTGCGCGCCGGGCGTGGGAAGCCGGGCGCCGAGGCGCGAGTGCGGGCAGAGTTCCGGCAGCATGCGGGCCTGCCGCGGTCCGACGTGCTGCGCATCGAGTACCTGTACCGCCGCGAGCGGCGCCAGCTGCAGCTGCTACGCTCGGGCCACGCCACCGCCATGGGCGCCTTCGTACGCCCGCGGGCCCCGACCGGGGAGCCTGGCGGCGTGGGTTGCCAGCCTGACGACGGCGACAGTCCAAGGAACCCCCACGACAGCACGGGGGCACCGGAGACCCGCCCCGACGGACGGTGACAGGCGAAGAGCCGAACTCGCTCGATGGCGTGGTGGAGCCAGGAGGCTCGCCTGACTGCATGGGGGGACTGGGGAACCCGCCTAAGGTGAGAGGTCTTAAGAGACTAGCTTGACGAATTGGGGATGTCAGAGACTCCTCCTTGGCGACGCAGGGGGCCTAGAGAGCCCCGTGATGGACGGCAAGGGAGGCCCGCCTTTTCCGATGCTTGGAGACAGGTCGGTGCTCCTCCCCCATGAGGGCTTGGGGCGGCCTGGGACGCTGGCGGGCTGGACAGTGTCAAGCCAAGAGCTACTTGCCCGAAGGTACGGGGAGCCAGGACGACCCCCGGTGGACAGGGAGAGCCTGAGACGCCCTTCTCTTGACCCCTGAGAACATACCCACTTCTGGCTCCTCAAGGAGTCTCCCCTCTCCTGTATTTAACTCTGAGAAGTGCAGACTTTTTGCTGAGAACGTTTTGGGAAGGTGCCCTGATGAGCGGTGAGAAGCCCGGAATCCCCTTCTGGAAAACTTTCCCCCATTAATTGTGACAAGCCAGGACCATGAGGAAGGGGTAGGGGTCTATCACCCTGGTTGATCAACTGAAGACCCCCAAAGGCCCCTACTTGATGGTTTTGAGGGGCAACATTGACTCATTTGCCCCTTCCCTCTCGGAATGTTGGACAAAGGGAATAAAATTGGGGATATGTCTACTTCCCTGTTGGTGGTCTTAAAGCTTTTATATATTTCAGGATTTTTGAAACACCCCCAGCCCCCCTGCCACCACACACACACGCACACAGACACCTGGAAGGGACCATCTGGGAGGTGATAGGTGTGGGGATCTGACTCCTTCCGGAGCCCTGTAGACTGGCACATTGATTGAAGCGGCATAGTTTTCTCCCCTGGGCAGATCTGTGGAGGGGGCTCATCCTGGCTTAACCCCCAAAGATACCCCAGTTGGCTCCCTAATGGAGGGCAAGTGATTTAACATCTTTGTGTGGAAGAGGAAATGGTGGAGCTGAGAACTGGCTCGGAGCCCCTGAGGCAGTAGTGAGGGTCTCAGACCTGGAAATTTCTCAAACCTGGCTGAAGGGTCCAGCCTCAGCTACAGTGAACGACAAGGCCCTGGGGCAGGAGAGGGGAGATGAACCCCATAGATCACAGATATACTCCCTCCGGTGTCCCCATATGGGCCTGCCCTAGACATTCTGTGGAGGGATGCATTTTGCATCGCTGAGCTATATTTGCACCCATATCAGTTAAATAAGTGGAAATGAGTTCTTGTGGATGTAGCTGTGGGTAGGAGGACCACAGGTAAGGAGCATAGACCTCAGACCAAAGGGAGGATGGACGGAAGAGAAACAGTCACTGCCCTAATCCCGGTGGGGGAGCCACATTCCCAAATGGTTATAAAGTGGAATTGCAGTTTGAAGAATTAATTGCCGGGATAGGCTTCTAGGCAAGAAGACCAAGGCTGGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTTGGAGGCCAAGATGGGCGGATCACGAGGTCAGGAGTTCCAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAATGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTACGTCTCAAAAAAAAAAAAAGACCAGTGTGGGGAAAGGCCTGGAGGGGGCAAAGGGAAGAAATGCAGGGTCTCAGGATCTCAGCTGGGGCCCGGAGTGCCCCAGGCACAAGGCTGTGGGTTTACTTGATTGTGGCTTCTACTTC 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Task1_train_27057 | With a mutation on Chromosome 19 in gene WDR62 (WD repeat domain 62), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | GGCAGCCTGAGCTTAAACTTTAGTCCTGTTCTTCCTGGCAGGTTATGAACTTCGCTTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGGGTCTTACTCTGTCATCCAGGCTGTAGTGCACTGGGTTGATCTCGGCTCACTGCAGTCTCAGCCTCCCTGGGCTCAGGTGATCTTCCTGCCTCAAGCCTCCTGAGTAGCTGGGACTGCAGGCGCATGCCACCATACCTGACTAATTTTTTTGTGTTTTCTGGTAGAGACAGGGTCTCGCCGTGTTGGCCAGGCTGGTCTTGAATTACTGAGCTCAAGCGATCTGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCTACTGTGCCCCGCCAAGTTATGAACTTATCTGTGCCTCAGTTTTCTTATCTGTAAAATGAGAATAATGATGTAGAAATCTCTCATAGGGTATTTGTGAGGATTCAATGAGGTTACATATCCTAGGCACTTAGAACAACACTGGCATATGGCAAGTACTCTATTCATGTTAGCTAATACTGATATTATGACTGTGTATTTGGGGTAATATTTATTTATTTTTTTTGTTTGGCAGCACAGAGTTGATCTGTCTTGCAAAGACCTAGTCTAAAAGTGACCATTCATACCAGGGCCCAGTAATGCTGATCGACAGATAAGACAACATGAGTGCCATGGCTTGGTTGTTTGTGTTGGAATCCTGGCACTACCCCTTCCTGGATGGGTAACCCCTCTTGGCCTCTGTTTCCTCAACTGTTTTGTTCCTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGATGGAGTGCAATGGTGCCATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTTTACTGCCTCAGCCTCCTGAGTGCCTGGGATTATAGGCATGGGCCACCACACCTGACTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATCTTGGCCAGGATGGTCTCAAACTCTTGACTGAGCCACCACACCCAGCCTTGTTTAAATTTTAAATATTACTGTTCATGTGGTTTTTTACTCGTTGAAACCGCTCAAATTTCTGGACTGTGAATCTGATGTGGGGAAACTGTCTACCTTTGGTCACTACTGTGTCTCTCCTGTACAGCCCAAAGTGCTAGCTTTGGAGCCAGACTGCCTGGGTTTGTATATCAACATTGCCACTTGCAGATGTAGGATCTTGGGCCTCAGACTTCTTACCTGTAAAACAGGGGTGATAATAGAGCCTTCTTCGTGGCTTGTTGGGAGGATTCAAGTCTTTTATACATATAAAAGTACTAAGAGGCCGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGTATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGACATGGTGGCATGTGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGGCGGAGGTTGCAATGAGCCAAGATCTCACCACTGACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAAACAAACAAAAAAAAGTACTTAGAAACTTATTCACAGGTCACCTTCTCACCGCGGCATTCGCCCCCTTCCCCTGTGCTCCTAACCTCCTTATCTGCTTTCTTCTCTCTTGCACCCATCATTACTTGGCATCTATTTCACATATTTGTTCTGCTCCTTTTCTATGTTCTACATACCCATCACCAGTAGAATGTGAGCCCCCCGAGGGCAGGGATTTGTCTCTTCCTCACCACTCTGTGCTTTTCACCTAGCGTTGTATTTGTCAAAGGAATGTTGAGAGAACAAGTGTTAGCTGCTGGTGGATGGCGTGGCCACAGAAGCTCAGTGTGGGTGTTGAATGTAGCAGGACCTGAATGGGTGGCCAAGGCGGCTGCACCATGTGGTGCTGGCTAGGGTGGGTGCCTCTGACTTGGGCTTTTTCTTTGCAGGTGTCACTCGAGAAGGTGCTTGGCATCACAGCCCAGAACAGCAGTGGCCTAACCTGTGACCCCGGCACAGGCCATGTGGCCTACCTGGCAGGGTAAGCAGATAAGGGCCTCGACGTCTAATCATTGCTAGGGAATTTGGAGCTTGGAACCTGAAGCCATCCGTAAATCGCTCTGAGCCTCATATTTTTCACCTGTAGAATGTGGAGAATGGGGCCTGCCTCTGAGAGCTGTGGAGAGGATTCCATAGCCCCCTCTCTGTCTAGAACAGTTCCTGGCATGTAGTGAGTGCAATGAAAGCCTTTATTATGACTACAGGGGGGAGGTGACAGCGATTCTGGGAAAGACAGGTGATTAAAGTCCACGCTGTGGTGTCAGGTAACCTGGATTTGTGTCCCAGCTCTGCCATGTATGCTGCTCTCTGAGCCTCTTCCTCTGCCTCTGTAAAACAGAGCTGGTGACCCCCTCTGCTTGCATAGTTGAGAAGACTGAAGAAGATGCTACAGCTGTTCATTCCATAAATACTCATGTAGCCTGGCACTGTGCTAAGGACGTCCCCTCTCTGGGTTTGTTTCCTTATCTATAAATGGGCCTAAATAGTCGTGACCTGACCTGGCAGTTGTGAGGATTTAAAACAATTACATCCCTCTTTCTCTCTTTTTGTTTTGTTTTGCTTTTTTGAGACAGAGTCTGGCTGTGTTGCCCAGGCTAGAATGCAATAGTGTGAATAACAGCTCACTACAGCCCCAACCTCCTGTGCTCAAGCGATCCTCCCATCTTCACCTCCCATGTAGCTGGGACTACAGGCACATGCCACCACAGCCAGCTAATTTTTTTTAGTGGAGATGAGATCTCACTCTGTCGCCCAGGCTGGTCTAAAACTCCTGAGCTCAAGTGATCCCTCCTGCCCCATACTCCCAAAGTGCTGGGATTATAGCCAGCTTAAGGTCTTAATTAGCCTAGGGCCTGACAGACATTACCTCAGAGGAAGTGTTGGTTTCTATTTAAGAACATAGCAATGTTAAAGTGCCCTAGAATTCTCAGCGTAAACACCTGGAGGAGGGGGAGGAGGAGGAGACCAGAGAGAACCGAGGGAGCTTGTTTATTTGTGGGCTTTTCTGGTGGGAATAGAATCATCCCAGGACCCCAACACTCCCCACAGTTGAGGCACATTTTCCTCTTTCTTCCCAGCTGTGTGGTGGTGATTTTGGACCCCAAGGAGAACAAGCAGCAGCACATCTTTAACACCGCCAGGTAGGCTGAGGCCTGGGCCCGGGGCAGGGGTGGAACCAGGGGCTTGGCACGCCTCCCCTCCCCTACACAGCCTGGAGATACTCATGGGTAGGTGCTCACTCATTCACTTACATGTTGGCTCAGCAGCATTCGCCTGTGCTGGGTGCTGTTCCGTGTGCTGGGGACACAGCAGTGACCAGAGGAGACGAGAATCTCTGCTGGCTAGAGCGAGACAGACTGTAAACTAGTCAGCAAATTACGGGCTGATCATGATCAGTGCTATGGAGGAAATGATGGAGGATGTCTTCGGGCAGGTTTGTGGGCAGAGAATAGGAGGAAAGCCTTATCAGAAGGCTCAGGGAACGCTGCCTTGACTCTGAGACCTGAAGGAAGCGAGAGGGTGACCCATAAGAAGCTGTAGGGAGAGCGCTTCAGGCAGGGGGCACAGGAAGGGCAAAGGCCCTGCAGTGGTTAAGAATCTCCGGCGCTTTAGAAGCAGCCAGGGATCTGGGTGCCTGGAGAAAGGAGCAGGGAAGATGAGGCTGGACCAGGCAGAAGCCACATCCCGTAGGCCTTGCAGCCTTGTAGAGGGTCTGCATAGCATGCTGAGTGCAGAGAGCAGCCACAGGAGGGCACCACAGGCCAGGAATGTGCTTTTCACCCCCAGCCCTCCAGCAGCTCTATTCCCTGCTTTGCTTTTCTCCACAAAATTTGCTCCCATCTCTGATATGCTGTCCAGTTTCCTCATTGATGGTATTCACTGTGGGTCTCCCTCAGTGTGAGCACTCTTGAGAGCAGGGACTTTCTCTGAGTTCATTTCTGTGTCCCTAGCA 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GGCAGCCTGAGCTTAAACTTTAGTCCTGTTCTTCCTGGCAGGTTATGAACTTCGCTTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGGGTCTTACTCTGTCATCCAGGCTGTAGTGCACTGGGTTGATCTCGGCTCACTGCAGTCTCAGCCTCCCTGGGCTCAGGTGATCTTCCTGCCTCAAGCCTCCTGAGTAGCTGGGACTGCAGGCGCATGCCACCATACCTGACTAATTTTTTTGTGTTTTCTGGTAGAGACAGGGTCTCGCCGTGTTGGCCAGGCTGGTCTTGAATTACTGAGCTCAAGCGATCTGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCTACTGTGCCCCGCCAAGTTATGAACTTATCTGTGCCTCAGTTTTCTTATCTGTAAAATGAGAATAATGATGTAGAAATCTCTCATAGGGTATTTGTGAGGATTCAATGAGGTTACATATCCTAGGCACTTAGAACAACACTGGCATATGGCAAGTACTCTATTCATGTTAGCTAATACTGATATTATGACTGTGTATTTGGGGTAATATTTATTTATTTTTTTTGTTTGGCAGCACAGAGTTGATCTGTCTTGCAAAGACCTAGTCTAAAAGTGACCATTCATACCAGGGCCCAGTAATGCTGATCGACAGATAAGACAACATGAGTGCCATGGCTTGGTTGTTTGTGTTGGAATCCTGGCACTACCCCTTCCTGGATGGGTAACCCCTCTTGGCCTCTGTTTCCTCAACTGTTTTGTTCCTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGATGGAGTGCAATGGTGCCATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTTTACTGCCTCAGCCTCCTGAGTGCCTGGGATTATAGGCATGGGCCACCACACCTGACTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATCTTGGCCAGGATGGTCTCAAACTCTTGACTGAGCCACCACACCCAGCCTTGTTTAAATTTTAAATATTACTGTTCATGTGGTTTTTTACTCGTTGAAACCGCTCAAATTTCTGGACTGTGAATCTGATGTGGGGAAACTGTCTACCTTTGGTCACTACTGTGTCTCTCCTGTACAGCCCAAAGTGCTAGCTTTGGAGCCAGACTGCCTGGGTTTGTATATCAACATTGCCACTTGCAGATGTAGGATCTTGGGCCTCAGACTTCTTACCTGTAAAACAGGGGTGATAATAGAGCCTTCTTCGTGGCTTGTTGGGAGGATTCAAGTCTTTTATACATATAAAAGTACTAAGAGGCCGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGTATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGACATGGTGGCATGTGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGGCGGAGGTTGCAATGAGCCAAGATCTCACCACTGACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAAACAAACAAAAAAAAGTACTTAGAAACTTATTCACAGGTCACCTTCTCACCGCGGCATTCGCCCCCTTCCCCTGTGCTCCTAACCTCCTTATCTGCTTTCTTCTCTCTTGCACCCATCATTACTTGGCATCTATTTCACATATTTGTTCTGCTCCTTTTCTATGTTCTACATACCCATCACCAGTAGAATGTGAGCCCCCCGAGGGCAGGGATTTGTCTCTTCCTCACCACTCTGTGCTTTTCACCTAGCGTTGTATTTGTCAAAGGAATGTTGAGAGAACAAGTGTTAGCTGCTGGTGGATGGCGTGGCCACAGAAGCTCAGTGTGGGTGTTGAATGTAGCAGGACCTGAATGGGTGGCCAAGGCGGCTGCACCATGTGGTGCTGGCTAGGGTGGGTGCCTCTGACTTGGGCTTTTTCTTTGCAGGTGTCACTCGAGAAGATGCTTGGCATCACAGCCCAGAACAGCAGTGGCCTAACCTGTGACCCCGGCACAGGCCATGTGGCCTACCTGGCAGGGTAAGCAGATAAGGGCCTCGACGTCTAATCATTGCTAGGGAATTTGGAGCTTGGAACCTGAAGCCATCCGTAAATCGCTCTGAGCCTCATATTTTTCACCTGTAGAATGTGGAGAATGGGGCCTGCCTCTGAGAGCTGTGGAGAGGATTCCATAGCCCCCTCTCTGTCTAGAACAGTTCCTGGCATGTAGTGAGTGCAATGAAAGCCTTTATTATGACTACAGGGGGGAGGTGACAGCGATTCTGGGAAAGACAGGTGATTAAAGTCCACGCTGTGGTGTCAGGTAACCTGGATTTGTGTCCCAGCTCTGCCATGTATGCTGCTCTCTGAGCCTCTTCCTCTGCCTCTGTAAAACAGAGCTGGTGACCCCCTCTGCTTGCATAGTTGAGAAGACTGAAGAAGATGCTACAGCTGTTCATTCCATAAATACTCATGTAGCCTGGCACTGTGCTAAGGACGTCCCCTCTCTGGGTTTGTTTCCTTATCTATAAATGGGCCTAAATAGTCGTGACCTGACCTGGCAGTTGTGAGGATTTAAAACAATTACATCCCTCTTTCTCTCTTTTTGTTTTGTTTTGCTTTTTTGAGACAGAGTCTGGCTGTGTTGCCCAGGCTAGAATGCAATAGTGTGAATAACAGCTCACTACAGCCCCAACCTCCTGTGCTCAAGCGATCCTCCCATCTTCACCTCCCATGTAGCTGGGACTACAGGCACATGCCACCACAGCCAGCTAATTTTTTTTAGTGGAGATGAGATCTCACTCTGTCGCCCAGGCTGGTCTAAAACTCCTGAGCTCAAGTGATCCCTCCTGCCCCATACTCCCAAAGTGCTGGGATTATAGCCAGCTTAAGGTCTTAATTAGCCTAGGGCCTGACAGACATTACCTCAGAGGAAGTGTTGGTTTCTATTTAAGAACATAGCAATGTTAAAGTGCCCTAGAATTCTCAGCGTAAACACCTGGAGGAGGGGGAGGAGGAGGAGACCAGAGAGAACCGAGGGAGCTTGTTTATTTGTGGGCTTTTCTGGTGGGAATAGAATCATCCCAGGACCCCAACACTCCCCACAGTTGAGGCACATTTTCCTCTTTCTTCCCAGCTGTGTGGTGGTGATTTTGGACCCCAAGGAGAACAAGCAGCAGCACATCTTTAACACCGCCAGGTAGGCTGAGGCCTGGGCCCGGGGCAGGGGTGGAACCAGGGGCTTGGCACGCCTCCCCTCCCCTACACAGCCTGGAGATACTCATGGGTAGGTGCTCACTCATTCACTTACATGTTGGCTCAGCAGCATTCGCCTGTGCTGGGTGCTGTTCCGTGTGCTGGGGACACAGCAGTGACCAGAGGAGACGAGAATCTCTGCTGGCTAGAGCGAGACAGACTGTAAACTAGTCAGCAAATTACGGGCTGATCATGATCAGTGCTATGGAGGAAATGATGGAGGATGTCTTCGGGCAGGTTTGTGGGCAGAGAATAGGAGGAAAGCCTTATCAGAAGGCTCAGGGAACGCTGCCTTGACTCTGAGACCTGAAGGAAGCGAGAGGGTGACCCATAAGAAGCTGTAGGGAGAGCGCTTCAGGCAGGGGGCACAGGAAGGGCAAAGGCCCTGCAGTGGTTAAGAATCTCCGGCGCTTTAGAAGCAGCCAGGGATCTGGGTGCCTGGAGAAAGGAGCAGGGAAGATGAGGCTGGACCAGGCAGAAGCCACATCCCGTAGGCCTTGCAGCCTTGTAGAGGGTCTGCATAGCATGCTGAGTGCAGAGAGCAGCCACAGGAGGGCACCACAGGCCAGGAATGTGCTTTTCACCCCCAGCCCTCCAGCAGCTCTATTCCCTGCTTTGCTTTTCTCCACAAAATTTGCTCCCATCTCTGATATGCTGTCCAGTTTCCTCATTGATGGTATTCACTGTGGGTCTCCCTCAGTGTGAGCACTCTTGAGAGCAGGGACTTTCTCTGAGTTCATTTCTGTGTCCCTAGCA 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Task1_train_27058 | Consider a variant on Chromosome 19 in gene WDR62 (WD repeat domain 62). Determine its clinical classification and disease relevance. | Pathogenic; Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | GAAGGGAGTAGAAGGAAACCATACAATCTGGGAACAGTGAATCTTGCTGCCAGAAACCTACGAGCTAGCCTGTTCATTCAGTGCTTGTGCAGGCTAGCTAGGAGTATCAGAAACATTTTGGCTCTTTATGGATTTTCCAGAACACCTTGAGTATTTAGCAGTGGAGCACAGGCTGCAGGCTACCTTGATGTGATGCCTGCCAGGATCCTCCCATCAGCACCACCCGTTTAGTTAGGCCAGGCCTGTACCATTTCCTGCATCTCTATTTCTCAGTGTTACAGGGTGGATAGGGTCTTAGGATACCCACTGCGGCAGAGGGAGAAGAAAGCAGGGTCCGCATACAGTGTCTACTCCATTTGGGTTTGGTGTCTCAGGGCGGAAGGGGCCTTTGCATTTACCCCCATTTCTCTGTGTGCTTTGCTGGGCACACCAGCGGCACTGGCTCTGTGGGAGCTGCTTGAGCTCACCTCTGCTGGCCTCTTCCGAGGCTTGGGAGGCAGAAGAGGGCAGAGTCCTATCAGAGTCGCCAGGATGGGGTCTGGCTGGCCACCCTCAGCGGAACCAGTGATCAGCTCTTTTCTTTATCCCCAGGAAGTCTCTCAGTGCTCTGGCCTTCTCCCCTGATGGGAAGTACATAGTGACAGGGGAGGTGAGTCGTGATCGTGACTGAGTGGGAGTCGGGGGCTGGGGGGTCTTGGAAGCCATTCCTTCTGCTCCCGGCAGGCCTGGGAGTCCCTGGAATAGCTCCTTCCTGGGCCAGAACAGCCCTGTAGCAGATGGGGGAGGTGGCTTTTGGGCACATCCTGTGGCAATGCCATCTTCGGCCTTGACAACCCTCTAGCCCTGCCCAGTACAGAGCCCAGCAGCAGTAACGACCCCACCTTCCCTAGAATGGGCATAGGCCTGCTGTGCGCATCTGGGATGTGGAGGAGAAGAATCAGGTGGCGGAGATGCTAGGCCACAAGTATGGTGTGGCGTGTGTGGCCTTCTCACCCAATATGAAGCACATCGTGTCCATGGGCTACCAACATGACATGGTGCTCAACGTCTGGGACTGGAAGGTAAGAGCCGACCAGCAGGCCTGTGGCAGGCAGCCAGCTGCCACAGCATCCTATGTCTTGGGCACAGGGAGAGCTACATGAGAGGACGCAGTAAAGTGCTCACTCACCCAACAGATAACAGCTATTGAGCACCTGTGACATGCTGATCCCTTATTGTAGGGCACAAGGCAGGCTCCCAGCTAGAAGCATTATACATATTTTTATATTGACCAGCTGTGACCTTAGGCAAGTGACTTAACATCTCTGTGAGTCTGTTTCCTCCTCTGTTAGATGGATATAGTAGTACTTATCTTGTTGAGTTGTGAGACTTTAATGAGTTGATAAGCACTGGAAGGCTGGGCTTTGGAACAGCTGTGGAGCTGGCAGAAGTGGGTACCAAGTCCTGGCTCTGCCCATAACCCACTATGTGACCTTGAGCACATGACATCTCCCCCTCTGAGCCTGGTAGGGTTGGGGAGAAGCGCCTCCCTCGTGGGGCTTTTGAGGGATTGAGGAAATTTCATGGGTTATCCTGTGAAGGGCTCAGGGCAGGGCCCAGAGCAGGAGCCCCATCTGTGACAGCCATAGGTTGTGTTGTCCTTACATCCCAGCCGTGACTGTCCCCAATACCATGTGTGGGCTGCAGAGCTTAGACCCTTGGAGAGAGCTCTGGAACATACTGTCCCATGGGGACCATTCCAAGCCTCTGTCCCTTCCTCTGTCGGTGAGGAATGAGCAGGGTGCCCCACATAGGTTTCCCCATACAGCAGCTCCCTGGAGGGTCCCAGGAAGACAGACTTGGAGTGGGGACGAGCAGGGAGTTCCAGCCTGAGGGCAAAGGCACAAACAGTCCAGTGGAATGAGTGCTGGCATGAGCTTCTCTGCACTTATTCTTCCAGAAAGACATCGTAGTGGCCTCCAACAAGGTATCTTGTAGAGTCATTGCCCTCTCCTTCTCAGAGGACAGCAGCTATTTTGTCACTGTTGGGAACCGCCATGTGAGGTTCTGGTTCTTGGAAGTCTCCACTGAGACAAAGGTGAGTTTCTGTCCCTGCCCCTTTAGCCAGGCCCTGAGGGAGTCACCATCGGTGGCAGCATGGTCTCCTGTTTCTCCCTGAGATTTGAGGGCAGCGGTCTCGGGCCATTTGGCCTCTCAGGGGCCCAGCTGCTGCTTCTGGGCCTACTCTCAGGGTGCTGATGCACAGGCCCTGCCAGGAACCCCCTGACCCTGGGACCAGCTCTCATTCTTGGACTGCTGCTGTCCAGCCCCTCTGTCCAGAGTGGCAGGGTTCTAGTGTTTTCTTCCCTTCTCCATTTGGAAGAGCTTCTTAGAGTTCTCCTGTTTTGTTGTGTCCTATCATCTGGTCATGCAGGGCCCAGCTGTGTGGACAAGTATCTCACTACGCCCTCTGTGTCTCCAGGTGACGAGCACAGTGCCCCTTGTAGGGCGCTCGGGCATCCTGGGCGAGCTGCACAACAACATCTTCTGTGGTGTGGCCTGCGGTCGGGGCCGGATGGCGGGCAGTACCTTCTGTGTGTCCTACTCGGGCCTCCTCTGCCAGTTCAATGAGAAGAGGGTGCTGGAGAAGTGGATCAACCTGAAGGTACCACCTCCCTCTCTGCCATCAGCTGGACAGACTCTTTCTCGTGATATGTGTCTGCAGGGGTGCTCATCAGCATTGACCACACAGGTTCTGCTTATGTGACTAGTGGTGAATGACGCCCACTCTCTGAGCTTAAGGTTCCACATCTGTAAAATGGGAGTACTGCTGCCCTCCCCGCAGAGCTGATAAGGAAGTCACGTGAGATAACATAGGCAAGGCAGTGAGCACGGTGCTTGGTACCCTGAAATGGGCTCAAGGTGACAGTTGTTTTCCCATGACTATTTGATCTACTTCACATTTCTTTTCTCCTTTGAGCACTCTGGCTGGTAGAGGATTGCATTTTTTTTTAATTAATTTATTTTTTTTTATTGATCATTCTTGGGTGTTTCTCCCAGAGGGGGTTTGGCAGGGTCTTAGGACAATAGTGGAGGGAAGGTCAGCAGACAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGGCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGTCTGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATGCATTTAACCCTGAATGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCATAGATCAACAGCATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAGTCTCCCATGTCTACTTCTTTCTACACAGACACAGCAACAATCTGATTTCTCTATCTTTTCCCCACCTTTCCCCCTTTTCTATTCCACAAAACCGCCATCGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGAAGGGGCGGCCGGGCAGAGGCACCCCCCATCTCCCGGACGGGGCGGCGGCAGGGCGGAGGCGGACCCCCACCTCCCTCCCTGACGGGCCGGCTGGCTGGGCAGGGGCTGACCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGCTAACCCCCCACCTCCCTCCCGGACGGAGCGGCTGGCCGGGCGGGGGCTGACTCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGCTGACCCCCACCTCCCTCCGGGACGGGGCGGCTGCTGGGCGGAGACGCTCCTCACTTCCCAGACGGGGCAGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGATGGGACGGCCAGGCAGAGACGCTCCTCACCTCCCAGACAGGGTCGCGGCCGGGTAGAGGCGCTCCTCACATCCCAGACGGGGTGGCGGGGCAGAGGCGCTCCCCGCATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTTC 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GAAGGGAGTAGAAGGAAACCATACAATCTGGGAACAGTGAATCTTGCTGCCAGAAACCTACGAGCTAGCCTGTTCATTCAGTGCTTGTGCAGGCTAGCTAGGAGTATCAGAAACATTTTGGCTCTTTATGGATTTTCCAGAACACCTTGAGTATTTAGCAGTGGAGCACAGGCTGCAGGCTACCTTGATGTGATGCCTGCCAGGATCCTCCCATCAGCACCACCCGTTTAGTTAGGCCAGGCCTGTACCATTTCCTGCATCTCTATTTCTCAGTGTTACAGGGTGGATAGGGTCTTAGGATACCCACTGCGGCAGAGGGAGAAGAAAGCAGGGTCCGCATACAGTGTCTACTCCATTTGGGTTTGGTGTCTCAGGGCGGAAGGGGCCTTTGCATTTACCCCCATTTCTCTGTGTGCTTTGCTGGGCACACCAGCGGCACTGGCTCTGTGGGAGCTGCTTGAGCTCACCTCTGCTGGCCTCTTCCGAGGCTTGGGAGGCAGAAGAGGGCAGAGTCCTATCAGAGTCGCCAGGATGGGGTCTGGCTGGCCACCCTCAGCGGAACCAGTGATCAGCTCTTTTCTTTATCCCCAGGAAGTCTCTCAGTGCTCTGGCCTTCTCCCCTGATGGGAAGTACATAGTGACAGGGGAGGTGAGTCGTGATCGTGACTGAGTGGGAGTCGGGGGCTGGGGGGTCTTGGAAGCCATTCCTTCTGCTCCCGGCAGGCCTGGGAGTCCCTGGAATAGCTCCTTCCTGGGCCAGAACAGCCCTGTAGCAGATGGGGGAGGTGGCTTTTGGGCACATCCTGTGGCAATGCCATCTTCGGCCTTGACAACCCTCTAGCCCTGCCCAGTACAGAGCCCAGCAGCAGTAACGACCCCACCTTCCCTAGAATGGGCATAGGCCTGCTGTGCGCATCTGGGATGTGGAGGAGAAGAATCAGGTGGCGGAGATGCTAGGCCACAAGTATGGTGTGGCGTGTGTGGCCTTCTCACCCAATATGAAGCACATCGTGTCCATGGGCTACCAACATGACATGGTGCTCAACGTCTGGGACTGGAAGGTAAGAGCCGACCAGCAGGCCTGTGGCAGGCAGCCAGCTGCCACAGCATCCTATGTCTTGGGCACAGGGAGAGCTACATGAGAGGACGCAGTAAAGTGCTCACTCACCCAACAGATAACAGCTATTGAGCACCTGTGACATGCTGATCCCTTATTGTAGGGCACAAGGCAGGCTCCCAGCTAGAAGCATTATACATATTTTTATATTGACCAGCTGTGACCTTAGGCAAGTGACTTAACATCTCTGTGAGTCTGTTTCCTCCTCTGTTAGATGGATATAGTAGTACTTATCTTGTTGAGTTGTGAGACTTTAATGAGTTGATAAGCACTGGAAGGCTGGGCTTTGGAACAGCTGTGGAGCTGGCAGAAGTGGGTACCAAGTCCTGGCTCTGCCCATAACCCACTATGTGACCTTGAGCACATGACATCTCCCCCTCTGAGCCTGGTAGGGTTGGGGAGAAGCGCCTCCCTCGTGGGGCTTTTGAGGGATTGAGGAAATTTCATGGGTTATCCTGTGAAGGGCTCAGGGCAGGGCCCAGAGCAGGAGCCCCATCTGTGACAGCCATAGGTTGTGTTGTCCTTACATCCCAGCCGTGACTGTCCCCAATACCATGTGTGGGCTGCAGAGCTTAGACCCTTGGAGAGAGCTCTGGAACATACTGTCCCATGGGGACCATTCCAAGCCTCTGTCCCTTCCTCTGTCGGTGAGGAATGAGCAGGGTGCCCCACATAGGTTTCCCCATACAGCAGCTCCCTGGAGGGTCCCAGGAAGACAGACTTGGAGTGGGGACGAGCAGGGAGTTCCAGCCTGAGGGCAAAGGCACAAACAGTCCAGTGGAATGAGTGCTGGCATGAGCTTCTCTGCACTTATTCTTCCAGAAAGACATCGTAGTGGCCTCCAACAAGGTATCTTGTAGAGTCATTGCCCTCTCCTTCTCAGAGGACAGCAGCTATTTTGTCACTGTTGGGAACCGCCATGTGAGGTTCTCGTTCTTGGAAGTCTCCACTGAGACAAAGGTGAGTTTCTGTCCCTGCCCCTTTAGCCAGGCCCTGAGGGAGTCACCATCGGTGGCAGCATGGTCTCCTGTTTCTCCCTGAGATTTGAGGGCAGCGGTCTCGGGCCATTTGGCCTCTCAGGGGCCCAGCTGCTGCTTCTGGGCCTACTCTCAGGGTGCTGATGCACAGGCCCTGCCAGGAACCCCCTGACCCTGGGACCAGCTCTCATTCTTGGACTGCTGCTGTCCAGCCCCTCTGTCCAGAGTGGCAGGGTTCTAGTGTTTTCTTCCCTTCTCCATTTGGAAGAGCTTCTTAGAGTTCTCCTGTTTTGTTGTGTCCTATCATCTGGTCATGCAGGGCCCAGCTGTGTGGACAAGTATCTCACTACGCCCTCTGTGTCTCCAGGTGACGAGCACAGTGCCCCTTGTAGGGCGCTCGGGCATCCTGGGCGAGCTGCACAACAACATCTTCTGTGGTGTGGCCTGCGGTCGGGGCCGGATGGCGGGCAGTACCTTCTGTGTGTCCTACTCGGGCCTCCTCTGCCAGTTCAATGAGAAGAGGGTGCTGGAGAAGTGGATCAACCTGAAGGTACCACCTCCCTCTCTGCCATCAGCTGGACAGACTCTTTCTCGTGATATGTGTCTGCAGGGGTGCTCATCAGCATTGACCACACAGGTTCTGCTTATGTGACTAGTGGTGAATGACGCCCACTCTCTGAGCTTAAGGTTCCACATCTGTAAAATGGGAGTACTGCTGCCCTCCCCGCAGAGCTGATAAGGAAGTCACGTGAGATAACATAGGCAAGGCAGTGAGCACGGTGCTTGGTACCCTGAAATGGGCTCAAGGTGACAGTTGTTTTCCCATGACTATTTGATCTACTTCACATTTCTTTTCTCCTTTGAGCACTCTGGCTGGTAGAGGATTGCATTTTTTTTTAATTAATTTATTTTTTTTTATTGATCATTCTTGGGTGTTTCTCCCAGAGGGGGTTTGGCAGGGTCTTAGGACAATAGTGGAGGGAAGGTCAGCAGACAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGGCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGTCTGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATGCATTTAACCCTGAATGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCATAGATCAACAGCATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAGTCTCCCATGTCTACTTCTTTCTACACAGACACAGCAACAATCTGATTTCTCTATCTTTTCCCCACCTTTCCCCCTTTTCTATTCCACAAAACCGCCATCGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGAAGGGGCGGCCGGGCAGAGGCACCCCCCATCTCCCGGACGGGGCGGCGGCAGGGCGGAGGCGGACCCCCACCTCCCTCCCTGACGGGCCGGCTGGCTGGGCAGGGGCTGACCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGCTAACCCCCCACCTCCCTCCCGGACGGAGCGGCTGGCCGGGCGGGGGCTGACTCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGCTGACCCCCACCTCCCTCCGGGACGGGGCGGCTGCTGGGCGGAGACGCTCCTCACTTCCCAGACGGGGCAGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGATGGGACGGCCAGGCAGAGACGCTCCTCACCTCCCAGACAGGGTCGCGGCCGGGTAGAGGCGCTCCTCACATCCCAGACGGGGTGGCGGGGCAGAGGCGCTCCCCGCATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTTC 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Task1_train_27059 | A variant has been detected on Chromosome 19 in WDR62 (WD repeat domain 62). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | CTGTGGGAGCTGCTTGAGCTCACCTCTGCTGGCCTCTTCCGAGGCTTGGGAGGCAGAAGAGGGCAGAGTCCTATCAGAGTCGCCAGGATGGGGTCTGGCTGGCCACCCTCAGCGGAACCAGTGATCAGCTCTTTTCTTTATCCCCAGGAAGTCTCTCAGTGCTCTGGCCTTCTCCCCTGATGGGAAGTACATAGTGACAGGGGAGGTGAGTCGTGATCGTGACTGAGTGGGAGTCGGGGGCTGGGGGGTCTTGGAAGCCATTCCTTCTGCTCCCGGCAGGCCTGGGAGTCCCTGGAATAGCTCCTTCCTGGGCCAGAACAGCCCTGTAGCAGATGGGGGAGGTGGCTTTTGGGCACATCCTGTGGCAATGCCATCTTCGGCCTTGACAACCCTCTAGCCCTGCCCAGTACAGAGCCCAGCAGCAGTAACGACCCCACCTTCCCTAGAATGGGCATAGGCCTGCTGTGCGCATCTGGGATGTGGAGGAGAAGAATCAGGTGGCGGAGATGCTAGGCCACAAGTATGGTGTGGCGTGTGTGGCCTTCTCACCCAATATGAAGCACATCGTGTCCATGGGCTACCAACATGACATGGTGCTCAACGTCTGGGACTGGAAGGTAAGAGCCGACCAGCAGGCCTGTGGCAGGCAGCCAGCTGCCACAGCATCCTATGTCTTGGGCACAGGGAGAGCTACATGAGAGGACGCAGTAAAGTGCTCACTCACCCAACAGATAACAGCTATTGAGCACCTGTGACATGCTGATCCCTTATTGTAGGGCACAAGGCAGGCTCCCAGCTAGAAGCATTATACATATTTTTATATTGACCAGCTGTGACCTTAGGCAAGTGACTTAACATCTCTGTGAGTCTGTTTCCTCCTCTGTTAGATGGATATAGTAGTACTTATCTTGTTGAGTTGTGAGACTTTAATGAGTTGATAAGCACTGGAAGGCTGGGCTTTGGAACAGCTGTGGAGCTGGCAGAAGTGGGTACCAAGTCCTGGCTCTGCCCATAACCCACTATGTGACCTTGAGCACATGACATCTCCCCCTCTGAGCCTGGTAGGGTTGGGGAGAAGCGCCTCCCTCGTGGGGCTTTTGAGGGATTGAGGAAATTTCATGGGTTATCCTGTGAAGGGCTCAGGGCAGGGCCCAGAGCAGGAGCCCCATCTGTGACAGCCATAGGTTGTGTTGTCCTTACATCCCAGCCGTGACTGTCCCCAATACCATGTGTGGGCTGCAGAGCTTAGACCCTTGGAGAGAGCTCTGGAACATACTGTCCCATGGGGACCATTCCAAGCCTCTGTCCCTTCCTCTGTCGGTGAGGAATGAGCAGGGTGCCCCACATAGGTTTCCCCATACAGCAGCTCCCTGGAGGGTCCCAGGAAGACAGACTTGGAGTGGGGACGAGCAGGGAGTTCCAGCCTGAGGGCAAAGGCACAAACAGTCCAGTGGAATGAGTGCTGGCATGAGCTTCTCTGCACTTATTCTTCCAGAAAGACATCGTAGTGGCCTCCAACAAGGTATCTTGTAGAGTCATTGCCCTCTCCTTCTCAGAGGACAGCAGCTATTTTGTCACTGTTGGGAACCGCCATGTGAGGTTCTGGTTCTTGGAAGTCTCCACTGAGACAAAGGTGAGTTTCTGTCCCTGCCCCTTTAGCCAGGCCCTGAGGGAGTCACCATCGGTGGCAGCATGGTCTCCTGTTTCTCCCTGAGATTTGAGGGCAGCGGTCTCGGGCCATTTGGCCTCTCAGGGGCCCAGCTGCTGCTTCTGGGCCTACTCTCAGGGTGCTGATGCACAGGCCCTGCCAGGAACCCCCTGACCCTGGGACCAGCTCTCATTCTTGGACTGCTGCTGTCCAGCCCCTCTGTCCAGAGTGGCAGGGTTCTAGTGTTTTCTTCCCTTCTCCATTTGGAAGAGCTTCTTAGAGTTCTCCTGTTTTGTTGTGTCCTATCATCTGGTCATGCAGGGCCCAGCTGTGTGGACAAGTATCTCACTACGCCCTCTGTGTCTCCAGGTGACGAGCACAGTGCCCCTTGTAGGGCGCTCGGGCATCCTGGGCGAGCTGCACAACAACATCTTCTGTGGTGTGGCCTGCGGTCGGGGCCGGATGGCGGGCAGTACCTTCTGTGTGTCCTACTCGGGCCTCCTCTGCCAGTTCAATGAGAAGAGGGTGCTGGAGAAGTGGATCAACCTGAAGGTACCACCTCCCTCTCTGCCATCAGCTGGACAGACTCTTTCTCGTGATATGTGTCTGCAGGGGTGCTCATCAGCATTGACCACACAGGTTCTGCTTATGTGACTAGTGGTGAATGACGCCCACTCTCTGAGCTTAAGGTTCCACATCTGTAAAATGGGAGTACTGCTGCCCTCCCCGCAGAGCTGATAAGGAAGTCACGTGAGATAACATAGGCAAGGCAGTGAGCACGGTGCTTGGTACCCTGAAATGGGCTCAAGGTGACAGTTGTTTTCCCATGACTATTTGATCTACTTCACATTTCTTTTCTCCTTTGAGCACTCTGGCTGGTAGAGGATTGCATTTTTTTTTAATTAATTTATTTTTTTTTATTGATCATTCTTGGGTGTTTCTCCCAGAGGGGGTTTGGCAGGGTCTTAGGACAATAGTGGAGGGAAGGTCAGCAGACAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGGCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGTCTGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATGCATTTAACCCTGAATGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCATAGATCAACAGCATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAGTCTCCCATGTCTACTTCTTTCTACACAGACACAGCAACAATCTGATTTCTCTATCTTTTCCCCACCTTTCCCCCTTTTCTATTCCACAAAACCGCCATCGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGAAGGGGCGGCCGGGCAGAGGCACCCCCCATCTCCCGGACGGGGCGGCGGCAGGGCGGAGGCGGACCCCCACCTCCCTCCCTGACGGGCCGGCTGGCTGGGCAGGGGCTGACCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGCTAACCCCCCACCTCCCTCCCGGACGGAGCGGCTGGCCGGGCGGGGGCTGACTCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGCTGACCCCCACCTCCCTCCGGGACGGGGCGGCTGCTGGGCGGAGACGCTCCTCACTTCCCAGACGGGGCAGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGATGGGACGGCCAGGCAGAGACGCTCCTCACCTCCCAGACAGGGTCGCGGCCGGGTAGAGGCGCTCCTCACATCCCAGACGGGGTGGCGGGGCAGAGGCGCTCCCCGCATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTTCTAGACGGAATGGCAGCCGGGAAGAGGCGCTCCTCACTTCCCAGATTGGGCAGCCGAGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGGCCAGGCAGAGACGCTCCTCACTTCCCAGACGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCCAAGGCAGGCGGCTGGGAGGTGGAGGTTGTAGCTAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGAAACATTGAGCACTGAGTAAACGAGACTCCGTCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGACCACTCGCGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACCCTGTGTTTGGTGGAGACCAAAAAAATACGAAAACCAGTCAGGCGTGGCGGCGCGCGCCTGCAATCGCAGGCACTCGGCAGGCTGAGGCAGG 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CTGTGGGAGCTGCTTGAGCTCACCTCTGCTGGCCTCTTCCGAGGCTTGGGAGGCAGAAGAGGGCAGAGTCCTATCAGAGTCGCCAGGATGGGGTCTGGCTGGCCACCCTCAGCGGAACCAGTGATCAGCTCTTTTCTTTATCCCCAGGAAGTCTCTCAGTGCTCTGGCCTTCTCCCCTGATGGGAAGTACATAGTGACAGGGGAGGTGAGTCGTGATCGTGACTGAGTGGGAGTCGGGGGCTGGGGGGTCTTGGAAGCCATTCCTTCTGCTCCCGGCAGGCCTGGGAGTCCCTGGAATAGCTCCTTCCTGGGCCAGAACAGCCCTGTAGCAGATGGGGGAGGTGGCTTTTGGGCACATCCTGTGGCAATGCCATCTTCGGCCTTGACAACCCTCTAGCCCTGCCCAGTACAGAGCCCAGCAGCAGTAACGACCCCACCTTCCCTAGAATGGGCATAGGCCTGCTGTGCGCATCTGGGATGTGGAGGAGAAGAATCAGGTGGCGGAGATGCTAGGCCACAAGTATGGTGTGGCGTGTGTGGCCTTCTCACCCAATATGAAGCACATCGTGTCCATGGGCTACCAACATGACATGGTGCTCAACGTCTGGGACTGGAAGGTAAGAGCCGACCAGCAGGCCTGTGGCAGGCAGCCAGCTGCCACAGCATCCTATGTCTTGGGCACAGGGAGAGCTACATGAGAGGACGCAGTAAAGTGCTCACTCACCCAACAGATAACAGCTATTGAGCACCTGTGACATGCTGATCCCTTATTGTAGGGCACAAGGCAGGCTCCCAGCTAGAAGCATTATACATATTTTTATATTGACCAGCTGTGACCTTAGGCAAGTGACTTAACATCTCTGTGAGTCTGTTTCCTCCTCTGTTAGATGGATATAGTAGTACTTATCTTGTTGAGTTGTGAGACTTTAATGAGTTGATAAGCACTGGAAGGCTGGGCTTTGGAACAGCTGTGGAGCTGGCAGAAGTGGGTACCAAGTCCTGGCTCTGCCCATAACCCACTATGTGACCTTGAGCACATGACATCTCCCCCTCTGAGCCTGGTAGGGTTGGGGAGAAGCGCCTCCCTCGTGGGGCTTTTGAGGGATTGAGGAAATTTCATGGGTTATCCTGTGAAGGGCTCAGGGCAGGGCCCAGAGCAGGAGCCCCATCTGTGACAGCCATAGGTTGTGTTGTCCTTACATCCCAGCCGTGACTGTCCCCAATACCATGTGTGGGCTGCAGAGCTTAGACCCTTGGAGAGAGCTCTGGAACATACTGTCCCATGGGGACCATTCCAAGCCTCTGTCCCTTCCTCTGTCGGTGAGGAATGAGCAGGGTGCCCCACATAGGTTTCCCCATACAGCAGCTCCCTGGAGGGTCCCAGGAAGACAGACTTGGAGTGGGGACGAGCAGGGAGTTCCAGCCTGAGGGCAAAGGCACAAACAGTCCAGTGGAATGAGTGCTGGCATGAGCTTCTCTGCACTTATTCTTCCAGAAAGACATCGTAGTGGCCTCCAACAAGGTATCTTGTAGAGTCATTGCCCTCTCCTTCTCAGAGGACAGCAGCTATTTTGTCACTGTTGGGAACCGCCATGTGAGGTTCTGGTTCTTGGAAGTCTCCACTGAGACAAAGGTGAGTTTCTGTCCCTGCCCCTTTAGCCAGGCCCTGAGGGAGTCACCATCGGTGGCAGCATGGTCTCCTGTTTCTCCCTGAGATTTGAGGGCAGCGGTCTCGGGCCATTTGGCCTCTCAGGGGCCCAGCTGCTGCTTCTGGGCCTACTCTCAGGGTGCTGATGCACAGGCCCTGCCAGGAACCCCCTGACCCTGGGACCAGCTCTCATTCTTGGACTGCTGCTGTCCAGCCCCTCTGTCCAGAGTGGCAGGGTTCTAGTGTTTTCTTCCCTTCTCCATTTGGAAGAGCTTCTTAGAGTTCTCCTGTTTTGTTGTGTCCTATCATCTGGTCATGCAGGGCCCAGCTGTGTGGACAAGTATCTCACTACGCCCTCTGTGTCTCCAGGTGACGAGCACAGTGCCCCTTGTAGGGCGCTTGGGCATCCTGGGCGAGCTGCACAACAACATCTTCTGTGGTGTGGCCTGCGGTCGGGGCCGGATGGCGGGCAGTACCTTCTGTGTGTCCTACTCGGGCCTCCTCTGCCAGTTCAATGAGAAGAGGGTGCTGGAGAAGTGGATCAACCTGAAGGTACCACCTCCCTCTCTGCCATCAGCTGGACAGACTCTTTCTCGTGATATGTGTCTGCAGGGGTGCTCATCAGCATTGACCACACAGGTTCTGCTTATGTGACTAGTGGTGAATGACGCCCACTCTCTGAGCTTAAGGTTCCACATCTGTAAAATGGGAGTACTGCTGCCCTCCCCGCAGAGCTGATAAGGAAGTCACGTGAGATAACATAGGCAAGGCAGTGAGCACGGTGCTTGGTACCCTGAAATGGGCTCAAGGTGACAGTTGTTTTCCCATGACTATTTGATCTACTTCACATTTCTTTTCTCCTTTGAGCACTCTGGCTGGTAGAGGATTGCATTTTTTTTTAATTAATTTATTTTTTTTTATTGATCATTCTTGGGTGTTTCTCCCAGAGGGGGTTTGGCAGGGTCTTAGGACAATAGTGGAGGGAAGGTCAGCAGACAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGGCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGTCTGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATGCATTTAACCCTGAATGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCATAGATCAACAGCATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAGTCTCCCATGTCTACTTCTTTCTACACAGACACAGCAACAATCTGATTTCTCTATCTTTTCCCCACCTTTCCCCCTTTTCTATTCCACAAAACCGCCATCGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGAAGGGGCGGCCGGGCAGAGGCACCCCCCATCTCCCGGACGGGGCGGCGGCAGGGCGGAGGCGGACCCCCACCTCCCTCCCTGACGGGCCGGCTGGCTGGGCAGGGGCTGACCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGCTAACCCCCCACCTCCCTCCCGGACGGAGCGGCTGGCCGGGCGGGGGCTGACTCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGCTGACCCCCACCTCCCTCCGGGACGGGGCGGCTGCTGGGCGGAGACGCTCCTCACTTCCCAGACGGGGCAGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGATGGGACGGCCAGGCAGAGACGCTCCTCACCTCCCAGACAGGGTCGCGGCCGGGTAGAGGCGCTCCTCACATCCCAGACGGGGTGGCGGGGCAGAGGCGCTCCCCGCATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTTCTAGACGGAATGGCAGCCGGGAAGAGGCGCTCCTCACTTCCCAGATTGGGCAGCCGAGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGGCCAGGCAGAGACGCTCCTCACTTCCCAGACGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCCAAGGCAGGCGGCTGGGAGGTGGAGGTTGTAGCTAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGAAACATTGAGCACTGAGTAAACGAGACTCCGTCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGACCACTCGCGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACCCTGTGTTTGGTGGAGACCAAAAAAATACGAAAACCAGTCAGGCGTGGCGGCGCGCGCCTGCAATCGCAGGCACTCGGCAGGCTGAGGCAGG 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Task1_train_27060 | Gene WDR62 (WD repeat domain 62) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | CTTTACTTTATTTCTTCTGTCCCTGTTGTGATTGGTCAATTTCATTTCTACTCTTAGCAGTTTCTCTTCAGTGTGGAGCTTTGTCCTGGAAGGACAAAGTTCACAGGATCTTCTCCAGTCCCTTTAGGCCTTACCCCTTGCACTCAACTGCTGTTGGGGTGGATGAAACCCTCCTACTTTCAGCTGCTGTTCAGTTTGGCCCAGTGTGCTTTCCAATGAACACCTCTTGGCTACTTTGGAATTATCCTGTTGCTGGGTCTGTCAGATGCCTTATTACTTCTCTGTCTCCCACATGCATGCTGATGATATGTAGGTCTTGTGATTGGTGGTGGTTTGTCCCACTCACTTGTATTTTGGGGTTTATGGGAGTATTTTGTCACTGAGTTTTGCTATAAATGTTGTCTGTAGGTTTGGGTTTTGCTATCTGGTTGATGTTTTTCTTATGTCGAGATTTTGGGAGATTAAAAAAATTAATGCCGCTACTATCATCTTCCCAGTTCTCAATCTTCCGTATTTTGAAATCTCTTTATATGGTGGCTCTTTGTCCTTCTCAGCTTCATTCTAAATATCTTTAGTTTTGTCTTTCAGTTCACTTAATTTTCTCCTCAGTTATATCTAATCTTTGGTTTTTAATGTTTTTATTTTTTTATTATTTTTTTTTTGAGACGGAGTCTCCCTCTGCCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTTTTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGTCAAGATGGTCTCGATCTCCTGACCTCGTGATCCTCCCGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGCGGGAGCCACCATGCCCGGCCTATTTTTTATTTTTTTATTTTTATTTTTTTGAGATGGAGTTTCGCTCTTGTTACCCAGACTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTGCTGCCTCAGCCTCCCAGGTTCAAGCAATTCTGCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCACCACCACGCCCAGCTAATTGTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGCGCCCGGCCAATATGTTTTTATTATTCATTTCTAGAAGCTGTTCTGTTTTGGTCTTTTTCAGCCCTGCTTGGTTAATCTTTATAATTTCTGGTTGGCTGCACACTTTTAATCTTGTCAAAATTATCTTTTAGTTCTTCAAACATATTGAATGTAGTTATTTTATATTCTGTCTGATAATTCCAATTTGGGTTTTTTTATTTTGTTTTTGGTTTGTCTGTCTGTTTGTTTTGAGACACAGTCTCATATGTTGGCCAGAGTAGACTTGAACTGCTGGTCTCTAGCAGTCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCGCCACCTCCCCTGATTTAATAATTCCAGTATTTAAAGTCTTGCTAGACTCTGTTGCTTCTGCTGCTTCTTGCTGATGGTACCTCGTTTTCTTTTGTGCTTAGTCATGTTTGATTGAGTTCCACATTTCCCTTGGAAGTTTATTTGAGGGTATGTGTTAAGGCCTAGGCTGAAGGTGGGACATGGATGATATATGGTAGCATTTTGTGTCCTTTTTTTTTCTTGTTTATTTTTAGCATAGAAGGTATTGCACGATACCTGTTTATCTTTAACTTACTTTTTTTTTTTCCATGAAAATGCAACAGTAAGTCATAGTGCTGTCATTGAGTCATCCTTTGCCTTGTCCTCTGGGAACTGTAGGTGTATCCTGAGTTTGAAGACCAGAGAGCTTGTTTGCCATCAGGATCCTTTCTGACTTGTTCTTCAGACAACACCATTCGCTTCTGGAACTTGGACAGCAGCCCTGATTCTCACTGGCAGAAAAACATCTTCAGCAATGTGAGTGGCTTCCTTTGTGAACCATCTTTCAGGAGGAACAAAGACCTACTGTAAGCTTGAATGCAGGGGCAGGAGAGAGTCTGATGGACCCTAGATGTTAGGTTCCATGAGGGCAAGAGCCGGCAACCAAGGCAGGTCCCTCTCTGCATCACTGCCTCTTGTTTCTCTTTCTCCTGCCCCCTCTCTGAGGTGGCACGCTCTATCCTCTCTGATTCTTTGCCAGTTGGCTCCTGCTCTGCAGATGTGTGGACGTGGCCACTCCCGGCAGCCCAACACACCCAGCCCAGGTGAAATTGCTTCCTAAGTCTTGAGATGGAATTCCCTGGGAGAGCACCTGATGAGCCAGCCCATTCAGCTGCCACACAGTGAGGCCTCACGGGGGTATGGGCAGAATGCTGGCGAGAGCCATGATGGGAGGCTGGGAAGAAAAGTTTGCTGAGGAAATTTTGGTTAGTATTGCAAGCCCAGTGAGAGGGCGTCTCTGGGGAGCTGAGACCTGAGTCATGCATTCATTTATTCTGCAGACACTTATTAACGTCCATGCCAGGTGCTTGGCTACATGCTAGGGACACAACAGTGACTAAGACTCTTCTGTCCTGTGGCACACACAATCTAGTGAGGGCCGACAGTGAACTGACAGCCGACCATGTTAATGCACAATCACAAGTGCGAAAAGCACTGTGAAGGAAAATGTGCAGGGTGCTAGTAGGACATAGAGCAGCAGCATGTGAACTTATCTGGGACATCCGGAGCAGCTTCCCGCGGAAGGGACAGCTAAGTTGAGATTGGGAAGAGTAAAGAGGGAAGGGGAGAGGGTCTATACTTAGGGAATAGCCTGTATGAAGGCCCTGGGGTGGGAAACAGCTGGGTGAATTGGAAAACCTGAAAGAGGCCAGTGTGATTGGAACTAAAAAGACCCTCCATGCAGGAGGCTGTAGCAGGTGCCCTGCAGGTGCACCTTTATTACTCCCCTCATTCCCTACCCAGTGCTACCATCGTCTCCTCTGTACCTGTGACATACATGCTGTTTTTGGCTGCACACAATAGAAAAACTCAAAACAAGAGGTAAAAGTTAGGTTTCTGACTCATGAAAGTAGTCTGAAGGTAACCAGTTTAGACCGTTCTGCAGGAAGCCCTTAGGGATCCAAGGGCCTTCCAGCTCTCTACTCTGTCATTTGAGGGAGCAGGCTATGTCCTCATGACCCAGTGTGGCTATGGGGGCTCCTGCTATCATATCTGAGTTCCAGGCTGCAGGATGGAGAAAAGACAGCAGAAGAATACGTGCTTGCTTTATATTTAATAGTTCAGAATTTATTCACATATTCTTATCTAGCTGCAGGGGAGGCAAGGAAATAATTATTCTGATTGGTGAAACTCCCAGCTCAAAATTAGAGTTGTATTACTAACGAAGAAGAGACTGGCTATGGAGGGACACGATTTCAGAGGTGCTTCTGAGCTGCTCGTGCTGACCTCAGCCCTGTCCTTCCTGCAGACCCTGCTGAAGGTCGTGTACGTGGAGAATGACATCCAGCACCTGCAGGACATGTCACACTTCCCAGACCGGGGGAGCGAGAATGGGACACCCATGGACGTGAAAGCCGGGGTGCGGGTCATGCAGGTCAGTCCTGACGGCCAGCATTTGGCTTCAGGCGACCGAAGTGGAAATCTGAGGCAAGTGGGCCCTGGCAGTGTCCAGTGTACACCTCCCAGCTCCAGCTCAGGTTCTCAGGGCAGTGGGCAGAAGCCCTGGCCTTGGCACCTCCTGCTGCCCATTGGGAATGAGGGGCTGTGAATAGTAATCCCATGAACAGCTCCCATTGGGAACTTAAGCTCGTAAGAGGCTTCCAGAAGGGCTGAGAGCAGAGTAACTACCAGGACCTCAGCAGCTAGGGTGTGCAGATTTTGCCTATAGAGTGTACAGGCAAGCTCACATGACTCTAGGGCAGCGTGACACTTTCACCAGCCACATGGTACCAGTGCTGAACTGTC | CTTTACTTTATTTCTTCTGTCCCTGTTGTGATTGGTCAATTTCATTTCTACTCTTAGCAGTTTCTCTTCAGTGTGGAGCTTTGTCCTGGAAGGACAAAGTTCACAGGATCTTCTCCAGTCCCTTTAGGCCTTACCCCTTGCACTCAACTGCTGTTGGGGTGGATGAAACCCTCCTACTTTCAGCTGCTGTTCAGTTTGGCCCAGTGTGCTTTCCAATGAACACCTCTTGGCTACTTTGGAATTATCCTGTTGCTGGGTCTGTCAGATGCCTTATTACTTCTCTGTCTCCCACATGCATGCTGATGATATGTAGGTCTTGTGATTGGTGGTGGTTTGTCCCACTCACTTGTATTTTGGGGTTTATGGGAGTATTTTGTCACTGAGTTTTGCTATAAATGTTGTCTGTAGGTTTGGGTTTTGCTATCTGGTTGATGTTTTTCTTATGTCGAGATTTTGGGAGATTAAAAAAATTAATGCCGCTACTATCATCTTCCCAGTTCTCAATCTTCCGTATTTTGAAATCTCTTTATATGGTGGCTCTTTGTCCTTCTCAGCTTCATTCTAAATATCTTTAGTTTTGTCTTTCAGTTCACTTAATTTTCTCCTCAGTTATATCTAATCTTTGGTTTTTAATGTTTTTATTTTTTTATTATTTTTTTTTTGAGACGGAGTCTCCCTCTGCCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTTTTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGTCAAGATGGTCTCGATCTCCTGACCTCGTGATCCTCCCGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGCGGGAGCCACCATGCCCGGCCTATTTTTTATTTTTTTATTTTTATTTTTTTGAGATGGAGTTTCGCTCTTGTTACCCAGACTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTGCTGCCTCAGCCTCCCAGGTTCAAGCAATTCTGCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCACCACCACGCCCAGCTAATTGTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGCGCCCGGCCAATATGTTTTTATTATTCATTTCTAGAAGCTGTTCTGTTTTGGTCTTTTTCAGCCCTGCTTGGTTAATCTTTATAATTTCTGGTTGGCTGCACACTTTTAATCTTGTCAAAATTATCTTTTAGTTCTTCAAACATATTGAATGTAGTTATTTTATATTCTGTCTGATAATTCCAATTTGGGTTTTTTTATTTTGTTTTTGGTTTGTCTGTCTGTTTGTTTTGAGACACAGTCTCATATGTTGGCCAGAGTAGACTTGAACTGCTGGTCTCTAGCAGTCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCGCCACCTCCCCTGATTTAATAATTCCAGTATTTAAAGTCTTGCTAGACTCTGTTGCTTCTGCTGCTTCTTGCTGATGGTACCTCGTTTTCTTTTGTGCTTAGTCATGTTTGATTGAGTTCCACATTTCCCTTGGAAGTTTATTTGAGGGTATGTGTTAAGGCCTAGGCTGAAGGTGGGACATGGATGATATATGGTAGCATTTTGTGTCCTTTTTTTTTCTTGTTTATTTTTAGCATAGAAGGTATTGCACGATACCTGTTTATCTTTAACTTACTTTTTTTTTTTCCATGAAAATGCAACAGTAAGTCATAGTGCTGTCATTGAGTCATCCTTTGCCTTGTCCTCTGGGAACTGTAGGTGTATCCTGAGTTTGAAGACCAGAGAGCTTGTTTGCCATCAGGATCCTTTCTGACTTGTTCTTCAGACAACACCATTCACTTCTGGAACTTGGACAGCAGCCCTGATTCTCACTGGCAGAAAAACATCTTCAGCAATGTGAGTGGCTTCCTTTGTGAACCATCTTTCAGGAGGAACAAAGACCTACTGTAAGCTTGAATGCAGGGGCAGGAGAGAGTCTGATGGACCCTAGATGTTAGGTTCCATGAGGGCAAGAGCCGGCAACCAAGGCAGGTCCCTCTCTGCATCACTGCCTCTTGTTTCTCTTTCTCCTGCCCCCTCTCTGAGGTGGCACGCTCTATCCTCTCTGATTCTTTGCCAGTTGGCTCCTGCTCTGCAGATGTGTGGACGTGGCCACTCCCGGCAGCCCAACACACCCAGCCCAGGTGAAATTGCTTCCTAAGTCTTGAGATGGAATTCCCTGGGAGAGCACCTGATGAGCCAGCCCATTCAGCTGCCACACAGTGAGGCCTCACGGGGGTATGGGCAGAATGCTGGCGAGAGCCATGATGGGAGGCTGGGAAGAAAAGTTTGCTGAGGAAATTTTGGTTAGTATTGCAAGCCCAGTGAGAGGGCGTCTCTGGGGAGCTGAGACCTGAGTCATGCATTCATTTATTCTGCAGACACTTATTAACGTCCATGCCAGGTGCTTGGCTACATGCTAGGGACACAACAGTGACTAAGACTCTTCTGTCCTGTGGCACACACAATCTAGTGAGGGCCGACAGTGAACTGACAGCCGACCATGTTAATGCACAATCACAAGTGCGAAAAGCACTGTGAAGGAAAATGTGCAGGGTGCTAGTAGGACATAGAGCAGCAGCATGTGAACTTATCTGGGACATCCGGAGCAGCTTCCCGCGGAAGGGACAGCTAAGTTGAGATTGGGAAGAGTAAAGAGGGAAGGGGAGAGGGTCTATACTTAGGGAATAGCCTGTATGAAGGCCCTGGGGTGGGAAACAGCTGGGTGAATTGGAAAACCTGAAAGAGGCCAGTGTGATTGGAACTAAAAAGACCCTCCATGCAGGAGGCTGTAGCAGGTGCCCTGCAGGTGCACCTTTATTACTCCCCTCATTCCCTACCCAGTGCTACCATCGTCTCCTCTGTACCTGTGACATACATGCTGTTTTTGGCTGCACACAATAGAAAAACTCAAAACAAGAGGTAAAAGTTAGGTTTCTGACTCATGAAAGTAGTCTGAAGGTAACCAGTTTAGACCGTTCTGCAGGAAGCCCTTAGGGATCCAAGGGCCTTCCAGCTCTCTACTCTGTCATTTGAGGGAGCAGGCTATGTCCTCATGACCCAGTGTGGCTATGGGGGCTCCTGCTATCATATCTGAGTTCCAGGCTGCAGGATGGAGAAAAGACAGCAGAAGAATACGTGCTTGCTTTATATTTAATAGTTCAGAATTTATTCACATATTCTTATCTAGCTGCAGGGGAGGCAAGGAAATAATTATTCTGATTGGTGAAACTCCCAGCTCAAAATTAGAGTTGTATTACTAACGAAGAAGAGACTGGCTATGGAGGGACACGATTTCAGAGGTGCTTCTGAGCTGCTCGTGCTGACCTCAGCCCTGTCCTTCCTGCAGACCCTGCTGAAGGTCGTGTACGTGGAGAATGACATCCAGCACCTGCAGGACATGTCACACTTCCCAGACCGGGGGAGCGAGAATGGGACACCCATGGACGTGAAAGCCGGGGTGCGGGTCATGCAGGTCAGTCCTGACGGCCAGCATTTGGCTTCAGGCGACCGAAGTGGAAATCTGAGGCAAGTGGGCCCTGGCAGTGTCCAGTGTACACCTCCCAGCTCCAGCTCAGGTTCTCAGGGCAGTGGGCAGAAGCCCTGGCCTTGGCACCTCCTGCTGCCCATTGGGAATGAGGGGCTGTGAATAGTAATCCCATGAACAGCTCCCATTGGGAACTTAAGCTCGTAAGAGGCTTCCAGAAGGGCTGAGAGCAGAGTAACTACCAGGACCTCAGCAGCTAGGGTGTGCAGATTTTGCCTATAGAGTGTACAGGCAAGCTCACATGACTCTAGGGCAGCGTGACACTTTCACCAGCCACATGGTACCAGTGCTGAACTGTC 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Task1_train_27061 | A mutation in WDR62 (WD repeat domain 62), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Primary microcephaly type 2 | TAGTCATGTTTGATTGAGTTCCACATTTCCCTTGGAAGTTTATTTGAGGGTATGTGTTAAGGCCTAGGCTGAAGGTGGGACATGGATGATATATGGTAGCATTTTGTGTCCTTTTTTTTTCTTGTTTATTTTTAGCATAGAAGGTATTGCACGATACCTGTTTATCTTTAACTTACTTTTTTTTTTTCCATGAAAATGCAACAGTAAGTCATAGTGCTGTCATTGAGTCATCCTTTGCCTTGTCCTCTGGGAACTGTAGGTGTATCCTGAGTTTGAAGACCAGAGAGCTTGTTTGCCATCAGGATCCTTTCTGACTTGTTCTTCAGACAACACCATTCGCTTCTGGAACTTGGACAGCAGCCCTGATTCTCACTGGCAGAAAAACATCTTCAGCAATGTGAGTGGCTTCCTTTGTGAACCATCTTTCAGGAGGAACAAAGACCTACTGTAAGCTTGAATGCAGGGGCAGGAGAGAGTCTGATGGACCCTAGATGTTAGGTTCCATGAGGGCAAGAGCCGGCAACCAAGGCAGGTCCCTCTCTGCATCACTGCCTCTTGTTTCTCTTTCTCCTGCCCCCTCTCTGAGGTGGCACGCTCTATCCTCTCTGATTCTTTGCCAGTTGGCTCCTGCTCTGCAGATGTGTGGACGTGGCCACTCCCGGCAGCCCAACACACCCAGCCCAGGTGAAATTGCTTCCTAAGTCTTGAGATGGAATTCCCTGGGAGAGCACCTGATGAGCCAGCCCATTCAGCTGCCACACAGTGAGGCCTCACGGGGGTATGGGCAGAATGCTGGCGAGAGCCATGATGGGAGGCTGGGAAGAAAAGTTTGCTGAGGAAATTTTGGTTAGTATTGCAAGCCCAGTGAGAGGGCGTCTCTGGGGAGCTGAGACCTGAGTCATGCATTCATTTATTCTGCAGACACTTATTAACGTCCATGCCAGGTGCTTGGCTACATGCTAGGGACACAACAGTGACTAAGACTCTTCTGTCCTGTGGCACACACAATCTAGTGAGGGCCGACAGTGAACTGACAGCCGACCATGTTAATGCACAATCACAAGTGCGAAAAGCACTGTGAAGGAAAATGTGCAGGGTGCTAGTAGGACATAGAGCAGCAGCATGTGAACTTATCTGGGACATCCGGAGCAGCTTCCCGCGGAAGGGACAGCTAAGTTGAGATTGGGAAGAGTAAAGAGGGAAGGGGAGAGGGTCTATACTTAGGGAATAGCCTGTATGAAGGCCCTGGGGTGGGAAACAGCTGGGTGAATTGGAAAACCTGAAAGAGGCCAGTGTGATTGGAACTAAAAAGACCCTCCATGCAGGAGGCTGTAGCAGGTGCCCTGCAGGTGCACCTTTATTACTCCCCTCATTCCCTACCCAGTGCTACCATCGTCTCCTCTGTACCTGTGACATACATGCTGTTTTTGGCTGCACACAATAGAAAAACTCAAAACAAGAGGTAAAAGTTAGGTTTCTGACTCATGAAAGTAGTCTGAAGGTAACCAGTTTAGACCGTTCTGCAGGAAGCCCTTAGGGATCCAAGGGCCTTCCAGCTCTCTACTCTGTCATTTGAGGGAGCAGGCTATGTCCTCATGACCCAGTGTGGCTATGGGGGCTCCTGCTATCATATCTGAGTTCCAGGCTGCAGGATGGAGAAAAGACAGCAGAAGAATACGTGCTTGCTTTATATTTAATAGTTCAGAATTTATTCACATATTCTTATCTAGCTGCAGGGGAGGCAAGGAAATAATTATTCTGATTGGTGAAACTCCCAGCTCAAAATTAGAGTTGTATTACTAACGAAGAAGAGACTGGCTATGGAGGGACACGATTTCAGAGGTGCTTCTGAGCTGCTCGTGCTGACCTCAGCCCTGTCCTTCCTGCAGACCCTGCTGAAGGTCGTGTACGTGGAGAATGACATCCAGCACCTGCAGGACATGTCACACTTCCCAGACCGGGGGAGCGAGAATGGGACACCCATGGACGTGAAAGCCGGGGTGCGGGTCATGCAGGTCAGTCCTGACGGCCAGCATTTGGCTTCAGGCGACCGAAGTGGAAATCTGAGGCAAGTGGGCCCTGGCAGTGTCCAGTGTACACCTCCCAGCTCCAGCTCAGGTTCTCAGGGCAGTGGGCAGAAGCCCTGGCCTTGGCACCTCCTGCTGCCCATTGGGAATGAGGGGCTGTGAATAGTAATCCCATGAACAGCTCCCATTGGGAACTTAAGCTCGTAAGAGGCTTCCAGAAGGGCTGAGAGCAGAGTAACTACCAGGACCTCAGCAGCTAGGGTGTGCAGATTTTGCCTATAGAGTGTACAGGCAAGCTCACATGACTCTAGGGCAGCGTGACACTTTCACCAGCCACATGGTACCAGTGCTGAACTGTCACCGAAGATGCCAGCTGGAGGAGGGTCCTGGTGGCTCTGGGAGAGGGGCTATGAGGGTGGGATAGCTGAGAGTTCAGGCTGCTTATGTGCCCTGTTGAGGTTTGGCAGGATGTTACCAACCCAGTAGGTGCTAGTGGGACATAGGCCCTGTTGCTGGGACCAGGTTTAAGATGACAAATGACAGCTGTGACCACCTGGGTATTGGAGCCACTGGGGAATGGAGGAGAGTTGGGGGAAACTAGAGGGGACATAAAGGGGCAGCAGCCACCAGGCAGCCCCAGGAGAGTAGGCTACAAGTTTTCAAACTTTCCTGTTGTCAAGAAGAGCAGAAAGTGCCGATTTTTTTCTGTGAAATTCGATAATTTTTAAATATTGGCACCTGTTTTGATATCAGTCACTGTATGAGACCAGCTCAGTGTGTCAGTGAGCTGCTTACATTGACATGGCACTGTCTGGAGTGGCAAAACGGTACCAAGAGCCAACATGGGGATAGTGCTCTTCCCCCTTGGTGGGCGCTGGCCTGAGCACTGTGTTGACTGATTTAATCCTCTCACTGACCCCTGATGTAAGTGATGTTATTGGCACAAGGTGTCTGGAGTAAGATCACACGGGTAGAATGAAGAAGCTGGGATGACTCGATGACTGATTTCATTTGGGGAGAATCAGGAAGGTCTAGATTTGAGACTCTTTTAACAATGAGAGACTGGAATCAAATGTTCTCATCCATAGCTCCTATCCTGGACTATGACCTCTGGCCCCTAGCCCCTGGCCCCTGTCCTACCCCAGGGACCACCTCTGATGCAGCCCTACGTAAACACCTGCCCCCCTAGAAGACTGTCCTAGATCCCTGGGGCTCTGTTCTGGCCCAGGCACCACAAGGGGCTGCTGCCTGCTGAGGTGCTCCCTGGTTCAACACGGCTCCCTTTACGATGGCAGGTTTCTAAATGAGAAAAGTGGTTGTGCATGTCTAGAGTATTTGGCCATGATAAGGGGTTCTCATTGTTGGTGGCCTGGCCATTCTGACCTATTCTAGAAGTGGTAGAGCACATGGGGCTGGGGTGTGGGGCTTCAGCGGGCGGTGTGTGTCTCCCAGGATCCACGAGCTGCACTTCATGGACGAGCTGGTCAAGGTGGAGGCCCATGATGCTGAGGTGCTGTGCCTGGAGTACTCCAAGCCAGAGACGGGTGAGCCCGCAGCAGGGGTGGAATGGGGGTCAGGCAGGGAGGCAGCCCCCCTGGCAGGGCCACAGAAAGGGGTAGTTGGTGTCTGGTGGGACTGTGGATGACAGCTGGGAGTTTTGTGTTCGGTAAGGGCCCCTGTAGCTGGACCCTGAGACCAGAGTGGCTGGGACTTCAGAAAGCAAGACACCCGCAGGCAGGACTCAGCTTGACTTGCCCGCTGCTGGTGCCAGCACCCAAGCCAAAGGGGTGGATGTATGAATGAGTGAATTGTGAATGAGAAGATAGATTGATTGTTAGGCATTATTTTCAAAAAGTTTGAAGCCTATAGAAATATTGGGAGAATATTATAATGAACACCCCATAGGCTTCACCCAAATTCCTCAATTTTTTTTTTGAGATGGAGTCTTGCTGTCACCCAGGCTAGAGGGGAGTGGCACCATCTCTGCTGACTGCAGCCTCCACCTCTCTGGTTCAAGTGATTCTCGTGCCTCAGTCTCCCATGTAGCTGGGATTACAGGTGCCTGCTGC 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TAGTCATGTTTGATTGAGTTCCACATTTCCCTTGGAAGTTTATTTGAGGGTATGTGTTAAGGCCTAGGCTGAAGGTGGGACATGGATGATATATGGTAGCATTTTGTGTCCTTTTTTTTTCTTGTTTATTTTTAGCATAGAAGGTATTGCACGATACCTGTTTATCTTTAACTTACTTTTTTTTTTTCCATGAAAATGCAACAGTAAGTCATAGTGCTGTCATTGAGTCATCCTTTGCCTTGTCCTCTGGGAACTGTAGGTGTATCCTGAGTTTGAAGACCAGAGAGCTTGTTTGCCATCAGGATCCTTTCTGACTTGTTCTTCAGACAACACCATTCGCTTCTGGAACTTGGACAGCAGCCCTGATTCTCACTGGCAGAAAAACATCTTCAGCAATGTGAGTGGCTTCCTTTGTGAACCATCTTTCAGGAGGAACAAAGACCTACTGTAAGCTTGAATGCAGGGGCAGGAGAGAGTCTGATGGACCCTAGATGTTAGGTTCCATGAGGGCAAGAGCCGGCAACCAAGGCAGGTCCCTCTCTGCATCACTGCCTCTTGTTTCTCTTTCTCCTGCCCCCTCTCTGAGGTGGCACGCTCTATCCTCTCTGATTCTTTGCCAGTTGGCTCCTGCTCTGCAGATGTGTGGACGTGGCCACTCCCGGCAGCCCAACACACCCAGCCCAGGTGAAATTGCTTCCTAAGTCTTGAGATGGAATTCCCTGGGAGAGCACCTGATGAGCCAGCCCATTCAGCTGCCACACAGTGAGGCCTCACGGGGGTATGGGCAGAATGCTGGCGAGAGCCATGATGGGAGGCTGGGAAGAAAAGTTTGCTGAGGAAATTTTGGTTAGTATTGCAAGCCCAGTGAGAGGGCGTCTCTGGGGAGCTGAGACCTGAGTCATGCATTCATTTATTCTGCAGACACTTATTAACGTCCATGCCAGGTGCTTGGCTACATGCTAGGGACACAACAGTGACTAAGACTCTTCTGTCCTGTGGCACACACAATCTAGTGAGGGCCGACAGTGAACTGACAGCCGACCATGTTAATGCACAATCACAAGTGCGAAAAGCACTGTGAAGGAAAATGTGCAGGGTGCTAGTAGGACATAGAGCAGCAGCATGTGAACTTATCTGGGACATCCGGAGCAGCTTCCCGCGGAAGGGACAGCTAAGTTGAGATTGGGAAGAGTAAAGAGGGAAGGGGAGAGGGTCTATACTTAGGGAATAGCCTGTATGAAGGCCCTGGGGTGGGAAACAGCTGGGTGAATTGGAAAACCTGAAAGAGGCCAGTGTGATTGGAACTAAAAAGACCCTCCATGCAGGAGGCTGTAGCAGGTGCCCTGCAGGTGCACCTTTATTACTCCCCTCATTCCCTACCCAGTGCTACCATCGTCTCCTCTGTACCTGTGACATACATGCTGTTTTTGGCTGCACACAATAGAAAAACTCAAAACAAGAGGTAAAAGTTAGGTTTCTGACTCATGAAAGTAGTCTGAAGGTAACCAGTTTAGACCGTTCTGCAGGAAGCCCTTAGGGATCCAAGGGCCTTCCAGCTCTCTACTCTGTCATTTGAGGGAGCAGGCTATGTCCTCATGACCCAGTGTGGCTATGGGGGCTCCTGCTATCATATCTGAGTTCCAGGCTGCAGGATGGAGAAAAGACAGCAGAAGAATACGTGCTTGCTTTATATTTAATAGTTCAGAATTTATTCACATATTCTTATCTAGCTGCAGGGGAGGCAAGGAAATAATTATTCTGATTGGTGAAACTCCCAGCTCAAAATTAGAGTTGTATTACTAACGAAGAAGAGACTGGCTATGGAGGGACACGATTTCAGAGGTGCTTCTGAGCTGCTCGTGCTGACCTCAGCCCTGTCCTTCCTGCAGACCCTGCTGAAGGTCGTGTACGTGGAGAATGACATCCAGCACCTGCAGGACATGTCACACTTCCCAGACCGGGGGAGCGAGAATGGGACACCCATGGACGTGAAAGCCGGGGTGCGGGTCATGCAGGTCAGTCCTGACGGCCAGCATTTGGCTTCAGGCAACCGAAGTGGAAATCTGAGGCAAGTGGGCCCTGGCAGTGTCCAGTGTACACCTCCCAGCTCCAGCTCAGGTTCTCAGGGCAGTGGGCAGAAGCCCTGGCCTTGGCACCTCCTGCTGCCCATTGGGAATGAGGGGCTGTGAATAGTAATCCCATGAACAGCTCCCATTGGGAACTTAAGCTCGTAAGAGGCTTCCAGAAGGGCTGAGAGCAGAGTAACTACCAGGACCTCAGCAGCTAGGGTGTGCAGATTTTGCCTATAGAGTGTACAGGCAAGCTCACATGACTCTAGGGCAGCGTGACACTTTCACCAGCCACATGGTACCAGTGCTGAACTGTCACCGAAGATGCCAGCTGGAGGAGGGTCCTGGTGGCTCTGGGAGAGGGGCTATGAGGGTGGGATAGCTGAGAGTTCAGGCTGCTTATGTGCCCTGTTGAGGTTTGGCAGGATGTTACCAACCCAGTAGGTGCTAGTGGGACATAGGCCCTGTTGCTGGGACCAGGTTTAAGATGACAAATGACAGCTGTGACCACCTGGGTATTGGAGCCACTGGGGAATGGAGGAGAGTTGGGGGAAACTAGAGGGGACATAAAGGGGCAGCAGCCACCAGGCAGCCCCAGGAGAGTAGGCTACAAGTTTTCAAACTTTCCTGTTGTCAAGAAGAGCAGAAAGTGCCGATTTTTTTCTGTGAAATTCGATAATTTTTAAATATTGGCACCTGTTTTGATATCAGTCACTGTATGAGACCAGCTCAGTGTGTCAGTGAGCTGCTTACATTGACATGGCACTGTCTGGAGTGGCAAAACGGTACCAAGAGCCAACATGGGGATAGTGCTCTTCCCCCTTGGTGGGCGCTGGCCTGAGCACTGTGTTGACTGATTTAATCCTCTCACTGACCCCTGATGTAAGTGATGTTATTGGCACAAGGTGTCTGGAGTAAGATCACACGGGTAGAATGAAGAAGCTGGGATGACTCGATGACTGATTTCATTTGGGGAGAATCAGGAAGGTCTAGATTTGAGACTCTTTTAACAATGAGAGACTGGAATCAAATGTTCTCATCCATAGCTCCTATCCTGGACTATGACCTCTGGCCCCTAGCCCCTGGCCCCTGTCCTACCCCAGGGACCACCTCTGATGCAGCCCTACGTAAACACCTGCCCCCCTAGAAGACTGTCCTAGATCCCTGGGGCTCTGTTCTGGCCCAGGCACCACAAGGGGCTGCTGCCTGCTGAGGTGCTCCCTGGTTCAACACGGCTCCCTTTACGATGGCAGGTTTCTAAATGAGAAAAGTGGTTGTGCATGTCTAGAGTATTTGGCCATGATAAGGGGTTCTCATTGTTGGTGGCCTGGCCATTCTGACCTATTCTAGAAGTGGTAGAGCACATGGGGCTGGGGTGTGGGGCTTCAGCGGGCGGTGTGTGTCTCCCAGGATCCACGAGCTGCACTTCATGGACGAGCTGGTCAAGGTGGAGGCCCATGATGCTGAGGTGCTGTGCCTGGAGTACTCCAAGCCAGAGACGGGTGAGCCCGCAGCAGGGGTGGAATGGGGGTCAGGCAGGGAGGCAGCCCCCCTGGCAGGGCCACAGAAAGGGGTAGTTGGTGTCTGGTGGGACTGTGGATGACAGCTGGGAGTTTTGTGTTCGGTAAGGGCCCCTGTAGCTGGACCCTGAGACCAGAGTGGCTGGGACTTCAGAAAGCAAGACACCCGCAGGCAGGACTCAGCTTGACTTGCCCGCTGCTGGTGCCAGCACCCAAGCCAAAGGGGTGGATGTATGAATGAGTGAATTGTGAATGAGAAGATAGATTGATTGTTAGGCATTATTTTCAAAAAGTTTGAAGCCTATAGAAATATTGGGAGAATATTATAATGAACACCCCATAGGCTTCACCCAAATTCCTCAATTTTTTTTTTGAGATGGAGTCTTGCTGTCACCCAGGCTAGAGGGGAGTGGCACCATCTCTGCTGACTGCAGCCTCCACCTCTCTGGTTCAAGTGATTCTCGTGCCTCAGTCTCCCATGTAGCTGGGATTACAGGTGCCTGCTGC 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Task1_train_27062 | Here is a mutation in WDR62 (WD repeat domain 62) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Abnormality of neuronal migration | GAGCAGTGTTTAACAGCTTTGACCTTGGCACCAGAGAATGCCTGGGTTCAGTCCTGCCCCTGTCCTCTCTGTGTGCCTTGGGACAAGGACTCTGTGAACCTCTGTGTTCATGCTTGTCCAGTGGGATGGGTGGTGAGCATTCAGGAAGACCCGCTACATGCATGGGGCCTGGCCCAAGGCTCATGTGGATCTTGCAGTTGATCCTGATGGCACGAGCCTCCCAGCCTGTCTCCACTGGTCGCTGCTGCAGTCCTGCCTCTACTCCGCTACTCAAGTCACCTATCTCAATCCCAGACTGGAGAGGGTGTCCCTTCTTTGTCCCCAGCCTTTGTTTCTCTATATGCCCTTGCTCTGCAGAGCCTGCCTTGGCCACAGCTCCACCTGTGCCCCCTCACACGTACAGCTCATACCTTACAGAGTCCCACCCAGACCCAGCACCCACCTCACCACCTTTAGGAAGCCTTGATCCCAGCACAGTTGATTGATGGCTCTTGCAGTGGAGTTCCCCAGCTAGGGTCCCCTGCCCATGTGGCCCAGCCCTGCCTAACACACAGCGTCCTCCTCCCCTAGGCAACAGAGACATCCAGATGATCAGCTGTGGGGCTGACAAGAGCATCTACTTTCGCAGTGCCCAGCAGGTAGGGTGGCATGGCCTCCTTGGGGGCTGGGGTGGGGGGTTGTCGGGGCATTCTCTGAAGGTCCTGCCGGCCCTGCCAGGGTTCGGATGGACTACACTTTGTCCGTACCCACCACGTAGCAGAGAAAACCACCTTGTATGACATGGACATTGACATCACCCAGAAGTACGTGGCCGTGGCCTGCCAGGACCGCAATGTGAGGTAAGGGGTGGCCCTGGACCCTTAGCTGGCCTGGTCTGCCTTGTCCTAGGCTGTCTGCTTTCCTCCCTCTGTTCCTCTGGTCCCCAAGAAGCTGGGAAGGAATTGAGGGACCCAGCAGGTGTTCCTTCTTGGTTTTTTTTTGTTTTTGTTTTTGAGGCAGAGTCTTGCTCTGTTGCCCATGCTAGAGTGCAGTGGCACCATTTTAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCGCCTGCCACCATGCCTAGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATATTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCACCAGCAGGTATTTCTTAGAAGCTGGGCTCTCCCAAGCCTGGCCTCCAGGTCAGCAGAGGGCTTTCTTCTGGCTCTCCCTAGAGCCGGTGTGGGATGACTAAGGTGCTGATGTGGCACATAAACTCCCTCATTCACCCGTATTCCCTGAGCACCTAACTGGGCTGGATGGTGCTGGGATCATGGCAGTGGCCAGGATAGCCCCAGGCCCTCCTTCATGGAGCTCACAGTCCAGTAGAATGGACACGGCCACCTCACAGCCACAGACAGTGACAGAGTGGTCAGAGATGGGGGAGCCCAGGGGCCCTGTGGAGACACCTGACCCCACCTGCGGATCAAGCAGGACTTCCTGGAGGAAGAGACACCTTAGCCTGGGGAGGATGTGGAGGAGCGAGCCAGGGGGAGGCAGAGAGTGAGTGTGCAGAGGGCAAAGCAGTGCAAAGAGGCTCTGCACCCCTTCCCAGTTCTTTCTCATGCGGTGCCAAGCACTGAGCTTGCAGTGTGTGGGGGAGATGAACATTAACTCAGTGGATACCCCAGGACAACCTCAGCTTGAGATGGGGTTTCAGTTTCAGTCTAGGCATCAGATGGGGACAAGAGGTAGCAGGGGGCTTCCAGGGGAGGGGAGGACAGCAAGAGCCAGAGAATGAGGTGGTGGGGTAGGCGGGGCCCTGTTGGCCGCAACATGCCCCTACTTCCCCAGAGTCTACAACACTGTGAACGGGAAGCAGAAGAAGTGCTACAAGGGCTCCCAGGGTGACGAAGGGTCCTTGCTGAAGGTGAGGAGTTGGAGACCCCTGTCTGTCTGCTGCCCTGATGGGCCACCTATTGTGACGGCCCACACCTGAGACCTGTGCCCTTGGTCCTTCCTCAGTGCACCGCGCTGCCCAGCACCTTCTCAGGCCTGGTTAAACAAGGATGCTTGCGAGAGGGTGGGGAGGGTGACCCCAGCTGTGTTTCCTTTATTTACAGAGCCCTTCCCCAAGTGGGGCGTCTAAGTGGGTTCCATTTTGAGTGGCAGCAGGGTATGGTGGGAAGAATCAGAGGCATGAACTCCCCTCCTGGTTTGCCCACACCAGCCACGGGTCACTCAGGACAAGGGGGGACCTTCTCAGAGCCTCTGGTCTAGGACAGTTATGGGTTCAGGTTCTGCCTCAGGCTGACTGTGTGACCTTGGGCAAGCATCATCTCTTGAAATGCACACAGACAGCTTGTCTCATAGACTTGTTCTCTGGAGGAGTTCAGTTTGCACATGTTCAGTGCTTAGCACAGGGCCTGGCTACTGTTGTTACTGCTGCGGTGGTTGTTAATTTCTTCACGTGTCGAATGGGAGCGGGAGCTCCTGCCCTGCCAGAGTCCCATGTGCTGTGCATGCAGCACGGGGGAGGGAGGGGCCCAGGCCTCATCATAAGGAAGAAGCAGGCAGCTGGAGTGACATGTGGGTCCCTTTCCTGGCAGGTCCATGTGGACCCCTCAGGCACCTTCCTGGCCACCAGCTGCTCTGACAAAAGCATCTCAGTGATTGACTTTTACTCGGGCGAGTGCATTGCCAAGATGTTTGGCCATTCAGGTGGGTGTGCCTCTCTGCTTGGGATGCCTCCCCACCCGCCCACACCCTCTGACTCCGAAGGCAAGTGCAGCCTCTCTGCTTTGTTTGCAGAAATTATTACCAGCATGAAGTTCACCTATGACTGTCATCACTTGATCACAGTATCTGGAGACAGGTGGGACATGGACCTTTGGGAGAGTTGTGGCTCAGATACCATGAGCACTGCACTCAGCCTGCCTGTGTAGAGAGCATTTCTAAACTGCCCAGTTTGGATTGTGGGAGTCTTGGTGTCACACCCAGCCCTGAGTTCAAATACCAGCTCTAAGCTGGGCATGATGGCTCACGCCTGTAACCCCAGCACTTTGGGACGCTGAGGCGGGTGGATCACTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAAACCCTATCTCTACAAAAAATTAGCCGGGTGTGGTCATGTACACCTCTAGTCCCAGCTACTCAGGAGGGGGAAGATGGCTTGAACCTGGTAGGTAGAGGTTGCAGGGAGCACAGATCATGCCAGTGCATTCCAGCCTTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAACAAAACACTAAAAAAACATATCCCAGCTCTGCCATTTATTTTCTTGTCACCTTGAGCAGGTTATTTCCCCTGAGCCTCAGTTTGCTCCCCTGTAAAAGACACCACCGTTTACATTTACCTTAAAAATGGTGTGATGAGGCCGGGCGCAGTGGCTCACGCCTGTGATCCCAGCACTTTGGGAGGCCTAGGTGGATGGATCATCTGAGGTCAGGAGTTCAAGACCAGCCTGGTCAACATGGAGAAACTGTGTCTCTACTAAAAATACAAAAATTAGCTGTGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCATGAGAATGACCTGAACCTGGGAGGTAGAAGTTGCAGTGAGCTGAGATCGCGTCACTGCACCCTAGCCTGGGTGACAGAGCAAGACTCTCTCAAAAAAAAAAAAAAAAGAAAATTGTATGGTGAGAAATGAATGAGATGATATACATACATTCTTTAGCACATGGGTGGTACTCAAGGAAGTCCCTTTTGTCACTCCCTTTGATTTACCCCAGTTCTTCCCCACAGCCCCCTTCCTCAGGTCTTGAGGCCTCCAGAACAGGCCCTGGTTTGCTGGGATGCCCCAGACCTGGGCCCAGGGTGTGGATGTGGCAAGTCCAGCACCCCTGCACTAAGCGGATAGGGGTGT 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GAGCAGTGTTTAACAGCTTTGACCTTGGCACCAGAGAATGCCTGGGTTCAGTCCTGCCCCTGTCCTCTCTGTGTGCCTTGGGACAAGGACTCTGTGAACCTCTGTGTTCATGCTTGTCCAGTGGGATGGGTGGTGAGCATTCAGGAAGACCCGCTACATGCATGGGGCCTGGCCCAAGGCTCATGTGGATCTTGCAGTTGATCCTGATGGCACGAGCCTCCCAGCCTGTCTCCACTGGTCGCTGCTGCAGTCCTGCCTCTACTCCGCTACTCAAGTCACCTATCTCAATCCCAGACTGGAGAGGGTGTCCCTTCTTTGTCCCCAGCCTTTGTTTCTCTATATGCCCTTGCTCTGCAGAGCCTGCCTTGGCCACAGCTCCACCTGTGCCCCCTCACACGTACAGCTCATACCTTACAGAGTCCCACCCAGACCCAGCACCCACCTCACCACCTTTAGGAAGCCTTGATCCCAGCACAGTTGATTGATGGCTCTTGCAGTGGAGTTCCCCAGCTAGGGTCCCCTGCCCATGTGGCCCAGCCCTGCCTAACACACAGCGTCCTCCTCCCCTAGGCAACAGAGACATCCAGATGATCAGCTGTGGGGCTGACAAGAGCATCTACTTTCGCAGTGCCCAGCAGGTAGGGTGGCATGGCCTCCTTGGGGGCTGGGGTGGGGGGTTGTCGGGGCATTCTCTGAAGGTCCTGCCGGCCCTGCCAGGGTTCGGATGGACTACACTTTGTCCGTACCCACCACGTAGCAGAGAAAACCACCTTGTATGACATGGACATTGACATCACCCAGAAGTACGTGGCCGTGGCCTGCCAGGACCGCAATGTGAGGTAAGGGGTGGCCCTGGACCCTTAGCTGGCCTGGTCTGCCTTGTCCTAGGCTGTCTGCTTTCCTCCCTCTGTTCCTCTGGTCCCCAAGAAGCTGGGAAGGAATTGAGGGACCCAGCAGGTGTTCCTTCTTGGTTTTTTTTTGTTTTTGTTTTTGAGGCAGAGTCTTGCTCTGTTGCCCATGCTAGAGTGCAGTGGCACCATTTTAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCGCCTGCCACCATGCCTAGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATATTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCACCAGCAGGTATTTCTTAGAAGCTGGGCTCTCCCAAGCCTGGCCTCCAGGTCAGCAGAGGGCTTTCTTCTGGCTCTCCCTAGAGCCGGTGTGGGATGACTAAGGTGCTGATGTGGCACATAAACTCCCTCATTCACCCGTATTCCCTGAGCACCTAACTGGGCTGGATGGTGCTGGGATCATGGCAGTGGCCAGGATAGCCCCAGGCCCTCCTTCATGGAGCTCACAGTCCAGTAGAATGGACACGGCCACCTCACAGCCACAGACAGTGACAGAGTGGTCAGAGATGGGGGAGCCCAGGGGCCCTGTGGAGACACCTGACCCCACCTGCGGATCAAGCAGGACTTCCTGGAGGAAGAGACACCTTAGCCTGGGGAGGATGTGGAGGAGCGAGCCAGGGGGAGGCAGAGAGTGAGTGTGCAGAGGGCAAAGCAGTGCAAAGAGGCTCTGCACCCCTTCCCAGTTCTTTCTCATGCGGTGCCAAGCACTGAGCTTGCAGTGTGTGGGGGAGATGAACATTAACTCAGTGGATACCCCAGGACAACCTCAGCTTGAGATGGGGTTTCAGTTTCAGTCTAGGCATCAGATGGGGACAAGAGGTAGCAGGGGGCTTCCAGGGGAGGGGAGGACAGCAAGAGCCAGAGAATGAGGTGGTGGGGTAGGCGGGGCCCTGTTGGCCGCAACATGCCCCTACTTCCCCAGAGTCTACAACACTGTGAACGGGAAGCAGAAGAAGTGCTACAAGGGCTCCCAGGGTGACGAAGGGTCCTTGCCGAAGGTGAGGAGTTGGAGACCCCTGTCTGTCTGCTGCCCTGATGGGCCACCTATTGTGACGGCCCACACCTGAGACCTGTGCCCTTGGTCCTTCCTCAGTGCACCGCGCTGCCCAGCACCTTCTCAGGCCTGGTTAAACAAGGATGCTTGCGAGAGGGTGGGGAGGGTGACCCCAGCTGTGTTTCCTTTATTTACAGAGCCCTTCCCCAAGTGGGGCGTCTAAGTGGGTTCCATTTTGAGTGGCAGCAGGGTATGGTGGGAAGAATCAGAGGCATGAACTCCCCTCCTGGTTTGCCCACACCAGCCACGGGTCACTCAGGACAAGGGGGGACCTTCTCAGAGCCTCTGGTCTAGGACAGTTATGGGTTCAGGTTCTGCCTCAGGCTGACTGTGTGACCTTGGGCAAGCATCATCTCTTGAAATGCACACAGACAGCTTGTCTCATAGACTTGTTCTCTGGAGGAGTTCAGTTTGCACATGTTCAGTGCTTAGCACAGGGCCTGGCTACTGTTGTTACTGCTGCGGTGGTTGTTAATTTCTTCACGTGTCGAATGGGAGCGGGAGCTCCTGCCCTGCCAGAGTCCCATGTGCTGTGCATGCAGCACGGGGGAGGGAGGGGCCCAGGCCTCATCATAAGGAAGAAGCAGGCAGCTGGAGTGACATGTGGGTCCCTTTCCTGGCAGGTCCATGTGGACCCCTCAGGCACCTTCCTGGCCACCAGCTGCTCTGACAAAAGCATCTCAGTGATTGACTTTTACTCGGGCGAGTGCATTGCCAAGATGTTTGGCCATTCAGGTGGGTGTGCCTCTCTGCTTGGGATGCCTCCCCACCCGCCCACACCCTCTGACTCCGAAGGCAAGTGCAGCCTCTCTGCTTTGTTTGCAGAAATTATTACCAGCATGAAGTTCACCTATGACTGTCATCACTTGATCACAGTATCTGGAGACAGGTGGGACATGGACCTTTGGGAGAGTTGTGGCTCAGATACCATGAGCACTGCACTCAGCCTGCCTGTGTAGAGAGCATTTCTAAACTGCCCAGTTTGGATTGTGGGAGTCTTGGTGTCACACCCAGCCCTGAGTTCAAATACCAGCTCTAAGCTGGGCATGATGGCTCACGCCTGTAACCCCAGCACTTTGGGACGCTGAGGCGGGTGGATCACTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAAACCCTATCTCTACAAAAAATTAGCCGGGTGTGGTCATGTACACCTCTAGTCCCAGCTACTCAGGAGGGGGAAGATGGCTTGAACCTGGTAGGTAGAGGTTGCAGGGAGCACAGATCATGCCAGTGCATTCCAGCCTTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAACAAAACACTAAAAAAACATATCCCAGCTCTGCCATTTATTTTCTTGTCACCTTGAGCAGGTTATTTCCCCTGAGCCTCAGTTTGCTCCCCTGTAAAAGACACCACCGTTTACATTTACCTTAAAAATGGTGTGATGAGGCCGGGCGCAGTGGCTCACGCCTGTGATCCCAGCACTTTGGGAGGCCTAGGTGGATGGATCATCTGAGGTCAGGAGTTCAAGACCAGCCTGGTCAACATGGAGAAACTGTGTCTCTACTAAAAATACAAAAATTAGCTGTGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCATGAGAATGACCTGAACCTGGGAGGTAGAAGTTGCAGTGAGCTGAGATCGCGTCACTGCACCCTAGCCTGGGTGACAGAGCAAGACTCTCTCAAAAAAAAAAAAAAAAGAAAATTGTATGGTGAGAAATGAATGAGATGATATACATACATTCTTTAGCACATGGGTGGTACTCAAGGAAGTCCCTTTTGTCACTCCCTTTGATTTACCCCAGTTCTTCCCCACAGCCCCCTTCCTCAGGTCTTGAGGCCTCCAGAACAGGCCCTGGTTTGCTGGGATGCCCCAGACCTGGGCCCAGGGTGTGGATGTGGCAAGTCCAGCACCCCTGCACTAAGCGGATAGGGGTGT 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Task1_train_27063 | The gene WDR62 (WD repeat domain 62), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | AGGAAAATACGTCAGCCAGGTGCAGTGATACGTGTCTGTGGTCCCAGCTACTCAGGAGGCTGAAGTGGGAGGATCACTTGAGCCCAGGAGGTTGAGGCTGTAGGGAACTGAGAAGGCACCACTACTACACTCCAGCGTGGGCAACAGAGTGAGATCCTGTCTCAAAAAAGAGAAAAAGAACAGGGGCCCAGCACGGTGGTTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGAGCAATATAGTGAGACCCCATCTCTACAAAAAATAAAAAAATTAGCCAGGCATGGTGGTGCATACCTGTAGTCCCAGGTACTCAGGAGGCTGAAGTGGGAGGATTGTTTGGGCCAGGGAGGTCGAGGATGCAGGGAGCTGCACTCCACAGCACTCCAGCATGAGCAACAGAGCCAACACTTTGTCTCATAAAAAAAATAAAAATAAAAAAGAAAATAAGGAGTGTTGGGGGGTGTCAGTTTTAAGTAAACAGGAAAGGCCTCATTGGGAAAATGATGTTTGAGCAGAGTTGAAGCAAGTGAGACAGGCAGATACTGGGACGAATGTTCTAGTCATAACAGCCTATACGTGTAAAAGCCACGAGGCCAGGAGCTCGAGACCAGCTTAGGCAACATAATGAGACTCCCATCTCTACAAAAGATTAAAAATAGCCAGGCATGGTGGTGCACACCCATAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGGATCACTTCAGCCCAGGAGTTGGAGGCTGCAGTGATCGTGCTACTGCACTCCAGCTTGGATGGCAGAACGAGACCTTGTCTCTTAAAAAAAAAAAAAGAAAAAGAGACCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGTAATCCAAGGTCAAGAGATCAAGATCATCCCGGTCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGCATGCCTATAGTCCCAACTACTGGTAAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTACAGTGAACCGAAATCATGCCACTGCACTCCAGCCTGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAAAAAAAAGAAAGACAATGTGGATTATAAGAGACAGAATAAGAGAGGTGAATGAAGGATGATCCCAAGGTTGGGGCATGAGTAACTGGAAAAAACAACTGAAACAGGGAATCTTTAGGAGGAGCAGGTTTGTGCAGAGGAAATGAGTTGAGTTGTCAGCATGTTAACTTTGAAATACCTACCAGACATCCATACAGAAATGTAGAGCAGTCACATGTGCAATTCTGAAGTTTCAGAGAAAAGTTCATGAATCCCAGCTGGGCATTCCCAGCACTTTGGGAGGCCGAAACAGGATTCCTTGAGCCCAAGGGTTTGAGACCAGCCTGAGCAACATAGTGAGAGTCCACCTCTACCAAAAACCAACAAAATGGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAAGCCGAGGCGGGCGGATCACTTGAGGTCAGCAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCTGGAGGCTGAGACAGGAGAATTGCTTGAAACTGAGAGGTGGAGGTTGCAGTGAGCCAAGGTCACGCCACTGCACTCCAGCCTGGGAGACAGAGCAAGACTTCGTCTCAAAAAAAAAAAAAAAAAAAAAAACAGAGAAAGGTTCACGCTGGAGATATGTACCTGGAAGTTGTTTCTGAATGGTATTGAAAGCCAAGAGTCCAGATGGGCTGTGTGAAATGTCCGTGTCGCTCCCTGCAGTGAGTGAGCACTCAGCCAGTTGCCTGACTGTCCGATATCCTTCAAGCTAGGGGACGATGATGTGGCAGATGGCTTGGCCTTCCACGCCAAGCGCAGCTACCAGCCCCACGGCCGCTGGGCAGAGCGGGCCGGCCAAGAGCCCCTCAAGACCATCCTGGATGCCCAGGACCTGGATTGCTACTTTACCCCCATGAAGCCCGAGAGTCTGGAGAACTCCATTCTGGATTCACTGGAGCCACAGAGCCTGGCCAGCCTGCTGAGTGAGGTACACACTTCCACCGCAGCCTGGCCCATAGCCCCGGCACCGTGACGGCCCCAGGGCCTGGCGCCTTAGGCTGACTCCCACTCCATGGGGGCAGGGAGGATTACATGAGATGGTGAAGGGCAGGAGGGTGAGCCCCAGGTCTGTTGCACAGCAAGACTTCCCAAGGCAGACAGGGAGTCTTTGGAAAGTGGGTCACTTGGGGGTTAAGAGCTTGGATGCTAGAGCAGGCTTGTACCCAAGTGGGGGACATTTGGGTAGATCGAGCCCTGACCCTACCCATTCCTGTTGTGTGACCTGGAGTAAGAGGCTTACCTCTTTGGGCTTCAGTCTTCTAAAAAGTAGTCATAATGGGGTCAGGGGCAGTGGCTAACACCTGTAATCCCAGCATTTGGGGAGGCCAAGGCAGGAGGATTACTTAACGATCACTTGAGGAGTTCAAGGCCAGCCTAGGCAACGTAGCAAGATCCCACCTCTACAAAAATATTTTTTAAATTTTTTTGTTTGTTTTGTTTTTAAATGGTAATAACAATCTCTTCTGCCCCAGAGGGCTTTTACAGGAATCCATGCTTAAGTATAGGGCCTGGGCTCTTAGAGGTGCCCGTGCAACTTTAGCTCTTTCTCTACTATTTTCCAAACAAAATTCATTTTTATCCTATCCTATAATTTGTCATCTTCATTGTGGTATAATATACATCCAGTAACATGCACAGATTTTAGGTATACAGCTTGATGAACTATCTGTGTAATTCACGTGTGTCCACTACCCTGGGCAAAATCTGGAGTGTTTTCTACCTCATAGAAACCCCCTTCTGCCCTTCCCAGTCAGGTCCCCGCACCAGGATAACCAGTGTTCTGACCTCTCACCAAGGACTGGGTTTCCTATTCTTGAACTTGATATAAATAGACACGTAGAGGGTTGGGCCTCCTATTTTTGGTGCCACACCTCTTCCTCATCTGTAAAGGGACTGATAATGCAGGGGCAGACCAGGACAAGCTGGTTGCGAGTGGAGGGCATGGCACAGGCCCTGGTTCACAGCCTCCAGCAGTGGGGCTGCTGGCATGGTTCCTGGCGCACTGTTGGTGGCCCCAGCCATGCCTGCCTCAGAATGGCTGTGCTGTCTTCCCCATAGTCAGAGAGTCCCCAGGAAGCTGGCCGCGGGCACCCCTCCTTCCTGCCCCAGCAGAAGGAATCATCTGAGGCCAGTGAGCTCATCCTCTACTCTCTGGAGGCAGAAGTGACAGTCACAGGGACAGACAGGTGGGTGTCCTTTCCACCAAGGGAGCCTTAGTTGGAGGAACCCCCAGCTGATAGCTGCATCCTGGAAGAAGTGCTCTCTGCCTTCCCAGTGGGCTTGTGGGAGTGGGGACAGTTGAGGCCTGGATGGGGCAGGAGCCCAGCCTTAGTTCCCTGGTTCCAGGTGGGGTACAGGAGGGCCTGACCTGGGGGAAGGAGGGGGCATTTGGAGGAGGCGGGGAGGCTGTCGCAGTGCTCCTGCAGGAGCAGCGGGTACAGGTGCCTAGGGGCTCCGGGTGGGGCTAGCTGTTGAGTCTCCAGCTGAAGTCCTTGTTCCCTCTCTGCCCCCACTGGCACTGCAGCCAGTATTGCAGGAAGGAGGTGGAGGCCGGGCCTGGAGACCAGCAGGGCGACTCCTACCTCAGGGTGTCCTCCGACAGCCCAAAGGACCAGAGCCCGCCTGAGGGTGAGTGCAGGGCAGGCAGGGACCCTGTGACAGTCTGTGCGTTCAGCCAAGCCCCTTTCTGGGCACCGATGGTGACTTTGACCCAGTACTGAAGCTCAGAGTCTGTCGAGGAAGACACATGTGGTCCCTGCTGCTGCCTGAGGATTCTGGGCCCAGCTGCCTACAGCTGAGAGCCCAGCTCTGCCACCTCCTTGAT 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AGGAAAATACGTCAGCCAGGTGCAGTGATACGTGTCTGTGGTCCCAGCTACTCAGGAGGCTGAAGTGGGAGGATCACTTGAGCCCAGGAGGTTGAGGCTGTAGGGAACTGAGAAGGCACCACTACTACACTCCAGCGTGGGCAACAGAGTGAGATCCTGTCTCAAAAAAGAGAAAAAGAACAGGGGCCCAGCACGGTGGTTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGAGCAATATAGTGAGACCCCATCTCTACAAAAAATAAAAAAATTAGCCAGGCATGGTGGTGCATACCTGTAGTCCCAGGTACTCAGGAGGCTGAAGTGGGAGGATTGTTTGGGCCAGGGAGGTCGAGGATGCAGGGAGCTGCACTCCACAGCACTCCAGCATGAGCAACAGAGCCAACACTTTGTCTCATAAAAAAAATAAAAATAAAAAAGAAAATAAGGAGTGTTGGGGGGTGTCAGTTTTAAGTAAACAGGAAAGGCCTCATTGGGAAAATGATGTTTGAGCAGAGTTGAAGCAAGTGAGACAGGCAGATACTGGGACGAATGTTCTAGTCATAACAGCCTATACGTGTAAAAGCCACGAGGCCAGGAGCTCGAGACCAGCTTAGGCAACATAATGAGACTCCCATCTCTACAAAAGATTAAAAATAGCCAGGCATGGTGGTGCACACCCATAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGGATCACTTCAGCCCAGGAGTTGGAGGCTGCAGTGATCGTGCTACTGCACTCCAGCTTGGATGGCAGAACGAGACCTTGTCTCTTAAAAAAAAAAAAAGAAAAAGAGACCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGTAATCCAAGGTCAAGAGATCAAGATCATCCCGGTCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGCATGCCTATAGTCCCAACTACTGGTAAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTACAGTGAACCGAAATCATGCCACTGCACTCCAGCCTGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAAAAAAAAGAAAGACAATGTGGATTATAAGAGACAGAATAAGAGAGGTGAATGAAGGATGATCCCAAGGTTGGGGCATGAGTAACTGGAAAAAACAACTGAAACAGGGAATCTTTAGGAGGAGCAGGTTTGTGCAGAGGAAATGAGTTGAGTTGTCAGCATGTTAACTTTGAAATACCTACCAGACATCCATACAGAAATGTAGAGCAGTCACATGTGCAATTCTGAAGTTTCAGAGAAAAGTTCATGAATCCCAGCTGGGCATTCCCAGCACTTTGGGAGGCCGAAACAGGATTCCTTGAGCCCAAGGGTTTGAGACCAGCCTGAGCAACATAGTGAGAGTCCACCTCTACCAAAAACCAACAAAATGGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAAGCCGAGGCGGGCGGATCACTTGAGGTCAGCAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCTGGAGGCTGAGACAGGAGAATTGCTTGAAACTGAGAGGTGGAGGTTGCAGTGAGCCAAGGTCACGCCACTGCACTCCAGCCTGGGAGACAGAGCAAGACTTCGTCTCAAAAAAAAAAAAAAAAAAAAAAACAGAGAAAGGTTCACGCTGGAGATATGTACCTGGAAGTTGTTTCTGAATGGTATTGAAAGCCAAGAGTCCAGATGGGCTGTGTGAAATGTCCGTGTCGCTCCCTGCAGTGAGTGAGCACTCAGCCAGTTGCCTGACTGTCCGATATCCTTCAAGCTAGGGGACGATGATGTGGCAGATGGCTTGGCCTTCCACGCCAAGCGCAGCTACCAGCCCCACGGCCACTGGGCAGAGCGGGCCGGCCAAGAGCCCCTCAAGACCATCCTGGATGCCCAGGACCTGGATTGCTACTTTACCCCCATGAAGCCCGAGAGTCTGGAGAACTCCATTCTGGATTCACTGGAGCCACAGAGCCTGGCCAGCCTGCTGAGTGAGGTACACACTTCCACCGCAGCCTGGCCCATAGCCCCGGCACCGTGACGGCCCCAGGGCCTGGCGCCTTAGGCTGACTCCCACTCCATGGGGGCAGGGAGGATTACATGAGATGGTGAAGGGCAGGAGGGTGAGCCCCAGGTCTGTTGCACAGCAAGACTTCCCAAGGCAGACAGGGAGTCTTTGGAAAGTGGGTCACTTGGGGGTTAAGAGCTTGGATGCTAGAGCAGGCTTGTACCCAAGTGGGGGACATTTGGGTAGATCGAGCCCTGACCCTACCCATTCCTGTTGTGTGACCTGGAGTAAGAGGCTTACCTCTTTGGGCTTCAGTCTTCTAAAAAGTAGTCATAATGGGGTCAGGGGCAGTGGCTAACACCTGTAATCCCAGCATTTGGGGAGGCCAAGGCAGGAGGATTACTTAACGATCACTTGAGGAGTTCAAGGCCAGCCTAGGCAACGTAGCAAGATCCCACCTCTACAAAAATATTTTTTAAATTTTTTTGTTTGTTTTGTTTTTAAATGGTAATAACAATCTCTTCTGCCCCAGAGGGCTTTTACAGGAATCCATGCTTAAGTATAGGGCCTGGGCTCTTAGAGGTGCCCGTGCAACTTTAGCTCTTTCTCTACTATTTTCCAAACAAAATTCATTTTTATCCTATCCTATAATTTGTCATCTTCATTGTGGTATAATATACATCCAGTAACATGCACAGATTTTAGGTATACAGCTTGATGAACTATCTGTGTAATTCACGTGTGTCCACTACCCTGGGCAAAATCTGGAGTGTTTTCTACCTCATAGAAACCCCCTTCTGCCCTTCCCAGTCAGGTCCCCGCACCAGGATAACCAGTGTTCTGACCTCTCACCAAGGACTGGGTTTCCTATTCTTGAACTTGATATAAATAGACACGTAGAGGGTTGGGCCTCCTATTTTTGGTGCCACACCTCTTCCTCATCTGTAAAGGGACTGATAATGCAGGGGCAGACCAGGACAAGCTGGTTGCGAGTGGAGGGCATGGCACAGGCCCTGGTTCACAGCCTCCAGCAGTGGGGCTGCTGGCATGGTTCCTGGCGCACTGTTGGTGGCCCCAGCCATGCCTGCCTCAGAATGGCTGTGCTGTCTTCCCCATAGTCAGAGAGTCCCCAGGAAGCTGGCCGCGGGCACCCCTCCTTCCTGCCCCAGCAGAAGGAATCATCTGAGGCCAGTGAGCTCATCCTCTACTCTCTGGAGGCAGAAGTGACAGTCACAGGGACAGACAGGTGGGTGTCCTTTCCACCAAGGGAGCCTTAGTTGGAGGAACCCCCAGCTGATAGCTGCATCCTGGAAGAAGTGCTCTCTGCCTTCCCAGTGGGCTTGTGGGAGTGGGGACAGTTGAGGCCTGGATGGGGCAGGAGCCCAGCCTTAGTTCCCTGGTTCCAGGTGGGGTACAGGAGGGCCTGACCTGGGGGAAGGAGGGGGCATTTGGAGGAGGCGGGGAGGCTGTCGCAGTGCTCCTGCAGGAGCAGCGGGTACAGGTGCCTAGGGGCTCCGGGTGGGGCTAGCTGTTGAGTCTCCAGCTGAAGTCCTTGTTCCCTCTCTGCCCCCACTGGCACTGCAGCCAGTATTGCAGGAAGGAGGTGGAGGCCGGGCCTGGAGACCAGCAGGGCGACTCCTACCTCAGGGTGTCCTCCGACAGCCCAAAGGACCAGAGCCCGCCTGAGGGTGAGTGCAGGGCAGGCAGGGACCCTGTGACAGTCTGTGCGTTCAGCCAAGCCCCTTTCTGGGCACCGATGGTGACTTTGACCCAGTACTGAAGCTCAGAGTCTGTCGAGGAAGACACATGTGGTCCCTGCTGCTGCCTGAGGATTCTGGGCCCAGCTGCCTACAGCTGAGAGCCCAGCTCTGCCACCTCCTTGAT 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Task1_train_27064 | The variant affects gene SPINT2 (serine peptidase inhibitor, Kunitz type 2), which is on Chromosome 19. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Congenital secretory sodium diarrhea 3 | TCCAAGCCTTGACGGCTCAGCACATACTTCTCTGTTTTCATGCTCAAGCCTAGGTTTAGTAGGCCTGAGTGGCAGTGGGAGATTCAAGTGCTGGGGGAGACCTTTGGCCTCACATTCAGATTCCACCTTGAGTCCCATGATCTCATTGCAAGGTTAGACTTCCATTGTTTAAGGTAAATACCATTTTGATAACTCAGTTACGGCTTTTCATGTATTATTATGCTAGGAGGGAGGCTGAAGAGTGGGAGTGGCCCTGGCTCCTGAACACACTATTCTCTTTCCTGCCTGAAGGCCTCCGCATGTGCCATTCCTGATTCTTGGAATGTTTGTCCCTTGGCCTTTATCATCCTTCAGAGTTCATTATCAAAGCCACCCCTCACAAAGCCCTTCCTCCGCCACCCCATTCAAAAGATCTCTTGTTATTTTCCATCCCAGCCCCTGATTCCTTTTCTGTATAGCACTGTCAAAGTGTTTTCAGGCCAGGTGTGGTGGTTCACGCCTGTAATACAACACTTTTGGAAGGATGAGACAGGAGGATCCCTTGAAGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGTCCCCTGTCTCCACAAAAAATTTAAAAATTAGCTGGATGTGGTGGCTCACATCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCCCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCCAAGATCACTCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTTCCATCTCAAAAAAAAAAAAAAAAAGAAATAATCTAAAAGTGTTTTCAATAATAATGCATTTATGTTGATTACCTTGTTGGCTATCCTCTACTCGTGTGCCTGCCCCACTCCATTCCCCTTTCTAGAGTCTGTTCACGTAACTCCTCTTCCAGGAAGCCCTCTTTGACTCCCAGGCTTGGTCAGGTGTCTTCTCTGGGTTTCCCCAGGGGCTTCCTTCCTCTCAATTCTGATGCTGCCTGTGCTAAGTATTTGTCTCCATATCTGTCCTGAGAACCTTGGAGCCAGGGCTCGGGGCTGTTTTTGCATGGGCCTATCACCTCCTCCAGGAAGCCCTCCTTGGCCCTCTCTCAGGCTGGATGGGAAAGCTGTCTGGGCTCCCATCATGCCCTGGTTTTCTAGCGACCCAGCCTCTGATCCCTAAGCTTGGCCTTCCCCATCACAGCTTTCATCACTTTGTGCTAAGCTTCCGCTATCACTACTCTGGGCCGTTCCTGTTTGGTGACTCAGGGACCAGTCTGGCATGGCCACCGCTGGGTCCCCAGCATTAAGCCCTGGAGCATGAGCCCAGTGAACTTTGAAATTCAGGAAGGAATTCACAGGAAAGCTGCGGCGAGGCGGGCAGAAAACCACAGGCTTCCAAGAAACGCGTGTCTGCCGCCCCCTCCTCCCACCCTGAGGCCAGTCCTAGAGCGAAGGCCCTCCTCCGACGTCGTCACCAAGCCCAAGGGAAGGGTGGCAGGTGCTCAGCGGGCAGACGCCCCGCCCCGCCCCGCCAGGTTCTGTTGGGGGCGAGGCCCGCGCAAGCCCCGCCTCTTCCCCGGCACCAGGGGCGGGCCCAGGTGCGCCCAGGGCCGGGGAGCGGCCGCGCAGGTGCCTGCCCTTTGCGCCTGCGCCCAGCTCGCCCTGCCTAGCCAGGTGCGCCCCGCCCCCTGCCTGCCCGGCCACCTTCGGGAGCCGCTTCCAATAGGCGTTCGCCATTGGCTCTGGCGACCTCCGCGCGTTGGGAGGTGTAGCGCGGCTCTGAACGCGCTGAGGGCCGTTGAGTGTCGCAGGCGGCGAGGGCGCGAGTGAGGAGCAGACCCAGGCATCGCGCGCCGAGAAGGCCGGGCGTCCCCACACTGAAGGTCCGGAAAGGCGACTTCCGGGGGCTTTGGCACCTGGCGGACCCTCCCGGAGCGTCGGCACCTGAACGCGAGGCGCTCCATTGCGCGTGCGCGTTGAGGGGCTTCCCGCACCTGATCGCGAGACCCCAACGGCTGGTGGCGTCGCCTGCGCGTCTCGGCTGAGCTGGCCATGGCGCAGCTGTGCGGGCTGAGGCGGAGCCGGGCGTTTCTCGCCCTGCTGGGATCGCTGCTCCTCTCTGGGGTCCTGGCGGCCGACCGAGAACGCAGCATCCACGGTGAGGGCCGGGCGGGTAGGCTGGAGGCGGGGCGCAGGGGGCAGAGGCTCGGGGGTCAACGGGGGTCTGAGCAGGGAGAACTGGCGGGGGAGGAAACTGGGGGCTACTTGATGGCGTTCAGCGGGTGTGGTGGAACCAGCCCTGGAGGATTGAGCCTTGAAATGAGGTTTGGGAGCCTTCGACAGCGAAGACGGGCGGAGGAGCGAGGGTTAGGAGAGTTTCCTTCGGGTGGAGGAAGAGTCAAGGGGTATTGACCAAGAAGGCGTGGCACTGCCCCTTCCTGTGGCAAGAACGGGGTGAGGAGCCGAATTGAAGACCAGCCTTCTCCTGGCGGTGGAAAGTTCCATGGCCAAAGCTCAGGGAGAGGCCAGGCCTGTGAGATGGTGGGGGTTGGGTTGGGTGACCTGGTGGCCGTTTTAGACTCGGAAGAAGCCCATCTCACCCCTGCCTCTTTGGAGATTGGACAAGAGCCTCCCCTGAAGTTTTTGTAGTTGAGTTGCAGTAAAGTAGGTGCCCGAGAAGGAGGGAGCAAGAAAGGAAACAAGCTTTGGGGAAGAGGAAGCTCTGCTAAGGCTCGAGAGAGTATTGGCGTTGAGCAGCTGGTGTTGGGGTCTTTGGATTGGCCCTTAGAAGTCGGTGGTGAATAAGGTGATTTAAACTTCTACACTCTTAAGGAAGTGTGGTCTGAAAGGTCTCTTTGAACAAGTGTTGTTATAACCTTAACTGCTTCAGACAAGCACCAGCGTGTTTTGAAAAGAGCTCTCTTGAAAGCAAGAATTCATTGATTCAGCAAAACTTACTGAGGCCCTGCTACGTGTCAGGCACTGGCGCTGGTTATAACAGTTAACTCAGACTAGCTGGGTTCCTGCATTCACAGAGCTAATATTCCAGTGGGAGAGGCAGAGCTAGTGAAGGTTTAAAAAGCACTTGCCATGAGATTAAGTTACTGAGAATTAAATGAACCAGGTGAAGTACACCAACAGGGTGACGTAAGATGTTGGGGGCGGCTTTAGCTCAGGTGGTCGGGGGACGTCTCCGTGAGGAGGGTGACATCTGAGCTCTAACATGAAGAATGAGGCAGTAGCCACACGGAGACCTGGGGGACCAGTGTCCAGTTGCAGGCAATAGAGTACAAAGGCCTTGAAGCTGGAACAAGCTTGGTTGGGTTCAGGGAAAAGACAGAGCCAGCCTGGCTGGAGCAGGCGTGAAGGAGGGGAGGACTGGAGGAGGATGGGAGGTGGGAGAGGTTGGCTGCAGCCAGATGGCCTAGGGCTTTATAGACAGGTGCTGGTGCTTGAACCCGGGAGGCGGATGTTGCAGTGAGCCAAGATCGCGCCACTGCATTCCAGCTTGGGCAACAAGAGTGAAACTCCCATCTCAAAAAAAAAAAAAGAAGGCCGGGTGATGTGGCTCATGCCTGTAATCCTAGAACTTTGGGAGGCCAAGGCGGGCAGATCACTGGAGGCCAGGAGTTCAACACCACCCTAGGCAACATGATGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCCCGGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAAGCCCAGAGGCGGAGGCTGTAGTGAGCTGAGATCAAGCCACTGCACAGCAGCCTGGGCGACACAGCAAGACTCAGTCTCAAAAAAAAAAAAAAGAGCAGGCTAGGTGTGTACCAAGTCATCACCTGTGGTAACTTCTGGGGACTGGTTAATTTCTCTGTGCCCTAGGCAGGAGAAAAAAGTGAATTGGTGGGGAGAGGCTCAGCTGTAGGTGACTGGGAGTCAGGAATGCAGACGTTGATCATTCTTGCAATTCGAACCAGAATTTGGCAGCTCTGCTGGACTTTTTCAGTTTAAGTAATTACGTTAGGATGTACCTCCCAGTTACCTGGCCTCTTGCTACCTC 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TCCAAGCCTTGACGGCTCAGCACATACTTCTCTGTTTTCATGCTCAAGCCTAGGTTTAGTAGGCCTGAGTGGCAGTGGGAGATTCAAGTGCTGGGGGAGACCTTTGGCCTCACATTCAGATTCCACCTTGAGTCCCATGATCTCATTGCAAGGTTAGACTTCCATTGTTTAAGGTAAATACCATTTTGATAACTCAGTTACGGCTTTTCATGTATTATTATGCTAGGAGGGAGGCTGAAGAGTGGGAGTGGCCCTGGCTCCTGAACACACTATTCTCTTTCCTGCCTGAAGGCCTCCGCATGTGCCATTCCTGATTCTTGGAATGTTTGTCCCTTGGCCTTTATCATCCTTCAGAGTTCATTATCAAAGCCACCCCTCACAAAGCCCTTCCTCCGCCACCCCATTCAAAAGATCTCTTGTTATTTTCCATCCCAGCCCCTGATTCCTTTTCTGTATAGCACTGTCAAAGTGTTTTCAGGCCAGGTGTGGTGGTTCACGCCTGTAATACAACACTTTTGGAAGGATGAGACAGGAGGATCCCTTGAAGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGTCCCCTGTCTCCACAAAAAATTTAAAAATTAGCTGGATGTGGTGGCTCACATCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCCCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCCAAGATCACTCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTTCCATCTCAAAAAAAAAAAAAAAAAGAAATAATCTAAAAGTGTTTTCAATAATAATGCATTTATGTTGATTACCTTGTTGGCTATCCTCTACTCGTGTGCCTGCCCCACTCCATTCCCCTTTCTAGAGTCTGTTCACGTAACTCCTCTTCCAGGAAGCCCTCTTTGACTCCCAGGCTTGGTCAGGTGTCTTCTCTGGGTTTCCCCAGGGGCTTCCTTCCTCTCAATTCTGATGCTGCCTGTGCTAAGTATTTGTCTCCATATCTGTCCTGAGAACCTTGGAGCCAGGGCTCGGGGCTGTTTTTGCATGGGCCTATCACCTCCTCCAGGAAGCCCTCCTTGGCCCTCTCTCAGGCTGGATGGGAAAGCTGTCTGGGCTCCCATCATGCCCTGGTTTTCTAGCGACCCAGCCTCTGATCCCTAAGCTTGGCCTTCCCCATCACAGCTTTCATCACTTTGTGCTAAGCTTCCGCTATCACTACTCTGGGCCGTTCCTGTTTGGTGACTCAGGGACCAGTCTGGCATGGCCACCGCTGGGTCCCCAGCATTAAGCCCTGGAGCATGAGCCCAGTGAACTTTGAAATTCAGGAAGGAATTCACAGGAAAGCTGCGGCGAGGCGGGCAGAAAACCACAGGCTTCCAAGAAACGCGTGTCTGCCGCCCCCTCCTCCCACCCTGAGGCCAGTCCTAGAGCGAAGGCCCTCCTCCGACGTCGTCACCAAGCCCAAGGGAAGGGTGGCAGGTGCTCAGCGGGCAGACGCCCCGCCCCGCCCCGCCAGGTTCTGTTGGGGGCGAGGCCCGCGCAAGCCCCGCCTCTTCCCCGGCACCAGGGGCGGGCCCAGGTGCGCCCAGGGCCGGGGAGCGGCCGCGCAGGTGCCTGCCCTTTGCGCCTGCGCCCAGCTCGCCCTGCCTAGCCAGGTGCGCCCCGCCCCCTGCCTGCCCGGCCACCTTCGGGAGCCGCTTCCAATAGGCGTTCGCCATTGGCTCTGGCGACCTCCGCGCGTTGGGAGGTGTAGCGCGGCTCTGAACGCGCTGAGGGCCGTTGAGTGTCGCAGGCGGCGAGGGCGCGAGTGAGGAGCAGACCCAGGCATCGCGCGCCGAGAAGGCCGGGCGTCCCCACACTGAAGGTCCGGAAAGGCGACTTCCGGGGGCTTTGGCACCTGGCGGACCCTCCCGGAGCGTCGGCACCTGAACGCGAGGCGCTCCATTGCGCGTGCGCGTTGAGGGGCTTCCCGCACCTGATCGCGAGACCCCAACGGCTGGTGGCGTCGCCTGCGCGTCTCGGCTGAGCTGGCCTTGGCGCAGCTGTGCGGGCTGAGGCGGAGCCGGGCGTTTCTCGCCCTGCTGGGATCGCTGCTCCTCTCTGGGGTCCTGGCGGCCGACCGAGAACGCAGCATCCACGGTGAGGGCCGGGCGGGTAGGCTGGAGGCGGGGCGCAGGGGGCAGAGGCTCGGGGGTCAACGGGGGTCTGAGCAGGGAGAACTGGCGGGGGAGGAAACTGGGGGCTACTTGATGGCGTTCAGCGGGTGTGGTGGAACCAGCCCTGGAGGATTGAGCCTTGAAATGAGGTTTGGGAGCCTTCGACAGCGAAGACGGGCGGAGGAGCGAGGGTTAGGAGAGTTTCCTTCGGGTGGAGGAAGAGTCAAGGGGTATTGACCAAGAAGGCGTGGCACTGCCCCTTCCTGTGGCAAGAACGGGGTGAGGAGCCGAATTGAAGACCAGCCTTCTCCTGGCGGTGGAAAGTTCCATGGCCAAAGCTCAGGGAGAGGCCAGGCCTGTGAGATGGTGGGGGTTGGGTTGGGTGACCTGGTGGCCGTTTTAGACTCGGAAGAAGCCCATCTCACCCCTGCCTCTTTGGAGATTGGACAAGAGCCTCCCCTGAAGTTTTTGTAGTTGAGTTGCAGTAAAGTAGGTGCCCGAGAAGGAGGGAGCAAGAAAGGAAACAAGCTTTGGGGAAGAGGAAGCTCTGCTAAGGCTCGAGAGAGTATTGGCGTTGAGCAGCTGGTGTTGGGGTCTTTGGATTGGCCCTTAGAAGTCGGTGGTGAATAAGGTGATTTAAACTTCTACACTCTTAAGGAAGTGTGGTCTGAAAGGTCTCTTTGAACAAGTGTTGTTATAACCTTAACTGCTTCAGACAAGCACCAGCGTGTTTTGAAAAGAGCTCTCTTGAAAGCAAGAATTCATTGATTCAGCAAAACTTACTGAGGCCCTGCTACGTGTCAGGCACTGGCGCTGGTTATAACAGTTAACTCAGACTAGCTGGGTTCCTGCATTCACAGAGCTAATATTCCAGTGGGAGAGGCAGAGCTAGTGAAGGTTTAAAAAGCACTTGCCATGAGATTAAGTTACTGAGAATTAAATGAACCAGGTGAAGTACACCAACAGGGTGACGTAAGATGTTGGGGGCGGCTTTAGCTCAGGTGGTCGGGGGACGTCTCCGTGAGGAGGGTGACATCTGAGCTCTAACATGAAGAATGAGGCAGTAGCCACACGGAGACCTGGGGGACCAGTGTCCAGTTGCAGGCAATAGAGTACAAAGGCCTTGAAGCTGGAACAAGCTTGGTTGGGTTCAGGGAAAAGACAGAGCCAGCCTGGCTGGAGCAGGCGTGAAGGAGGGGAGGACTGGAGGAGGATGGGAGGTGGGAGAGGTTGGCTGCAGCCAGATGGCCTAGGGCTTTATAGACAGGTGCTGGTGCTTGAACCCGGGAGGCGGATGTTGCAGTGAGCCAAGATCGCGCCACTGCATTCCAGCTTGGGCAACAAGAGTGAAACTCCCATCTCAAAAAAAAAAAAAGAAGGCCGGGTGATGTGGCTCATGCCTGTAATCCTAGAACTTTGGGAGGCCAAGGCGGGCAGATCACTGGAGGCCAGGAGTTCAACACCACCCTAGGCAACATGATGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCCCGGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAAGCCCAGAGGCGGAGGCTGTAGTGAGCTGAGATCAAGCCACTGCACAGCAGCCTGGGCGACACAGCAAGACTCAGTCTCAAAAAAAAAAAAAAGAGCAGGCTAGGTGTGTACCAAGTCATCACCTGTGGTAACTTCTGGGGACTGGTTAATTTCTCTGTGCCCTAGGCAGGAGAAAAAAGTGAATTGGTGGGGAGAGGCTCAGCTGTAGGTGACTGGGAGTCAGGAATGCAGACGTTGATCATTCTTGCAATTCGAACCAGAATTTGGCAGCTCTGCTGGACTTTTTCAGTTTAAGTAATTACGTTAGGATGTACCTCCCAGTTACCTGGCCTCTTGCTACCTC 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Task1_train_27065 | This sequence variant lies in SPINT2 (serine peptidase inhibitor, Kunitz type 2) on Chromosome 19. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | CAAGCCTTGACGGCTCAGCACATACTTCTCTGTTTTCATGCTCAAGCCTAGGTTTAGTAGGCCTGAGTGGCAGTGGGAGATTCAAGTGCTGGGGGAGACCTTTGGCCTCACATTCAGATTCCACCTTGAGTCCCATGATCTCATTGCAAGGTTAGACTTCCATTGTTTAAGGTAAATACCATTTTGATAACTCAGTTACGGCTTTTCATGTATTATTATGCTAGGAGGGAGGCTGAAGAGTGGGAGTGGCCCTGGCTCCTGAACACACTATTCTCTTTCCTGCCTGAAGGCCTCCGCATGTGCCATTCCTGATTCTTGGAATGTTTGTCCCTTGGCCTTTATCATCCTTCAGAGTTCATTATCAAAGCCACCCCTCACAAAGCCCTTCCTCCGCCACCCCATTCAAAAGATCTCTTGTTATTTTCCATCCCAGCCCCTGATTCCTTTTCTGTATAGCACTGTCAAAGTGTTTTCAGGCCAGGTGTGGTGGTTCACGCCTGTAATACAACACTTTTGGAAGGATGAGACAGGAGGATCCCTTGAAGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGTCCCCTGTCTCCACAAAAAATTTAAAAATTAGCTGGATGTGGTGGCTCACATCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCCCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCCAAGATCACTCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTTCCATCTCAAAAAAAAAAAAAAAAAGAAATAATCTAAAAGTGTTTTCAATAATAATGCATTTATGTTGATTACCTTGTTGGCTATCCTCTACTCGTGTGCCTGCCCCACTCCATTCCCCTTTCTAGAGTCTGTTCACGTAACTCCTCTTCCAGGAAGCCCTCTTTGACTCCCAGGCTTGGTCAGGTGTCTTCTCTGGGTTTCCCCAGGGGCTTCCTTCCTCTCAATTCTGATGCTGCCTGTGCTAAGTATTTGTCTCCATATCTGTCCTGAGAACCTTGGAGCCAGGGCTCGGGGCTGTTTTTGCATGGGCCTATCACCTCCTCCAGGAAGCCCTCCTTGGCCCTCTCTCAGGCTGGATGGGAAAGCTGTCTGGGCTCCCATCATGCCCTGGTTTTCTAGCGACCCAGCCTCTGATCCCTAAGCTTGGCCTTCCCCATCACAGCTTTCATCACTTTGTGCTAAGCTTCCGCTATCACTACTCTGGGCCGTTCCTGTTTGGTGACTCAGGGACCAGTCTGGCATGGCCACCGCTGGGTCCCCAGCATTAAGCCCTGGAGCATGAGCCCAGTGAACTTTGAAATTCAGGAAGGAATTCACAGGAAAGCTGCGGCGAGGCGGGCAGAAAACCACAGGCTTCCAAGAAACGCGTGTCTGCCGCCCCCTCCTCCCACCCTGAGGCCAGTCCTAGAGCGAAGGCCCTCCTCCGACGTCGTCACCAAGCCCAAGGGAAGGGTGGCAGGTGCTCAGCGGGCAGACGCCCCGCCCCGCCCCGCCAGGTTCTGTTGGGGGCGAGGCCCGCGCAAGCCCCGCCTCTTCCCCGGCACCAGGGGCGGGCCCAGGTGCGCCCAGGGCCGGGGAGCGGCCGCGCAGGTGCCTGCCCTTTGCGCCTGCGCCCAGCTCGCCCTGCCTAGCCAGGTGCGCCCCGCCCCCTGCCTGCCCGGCCACCTTCGGGAGCCGCTTCCAATAGGCGTTCGCCATTGGCTCTGGCGACCTCCGCGCGTTGGGAGGTGTAGCGCGGCTCTGAACGCGCTGAGGGCCGTTGAGTGTCGCAGGCGGCGAGGGCGCGAGTGAGGAGCAGACCCAGGCATCGCGCGCCGAGAAGGCCGGGCGTCCCCACACTGAAGGTCCGGAAAGGCGACTTCCGGGGGCTTTGGCACCTGGCGGACCCTCCCGGAGCGTCGGCACCTGAACGCGAGGCGCTCCATTGCGCGTGCGCGTTGAGGGGCTTCCCGCACCTGATCGCGAGACCCCAACGGCTGGTGGCGTCGCCTGCGCGTCTCGGCTGAGCTGGCCATGGCGCAGCTGTGCGGGCTGAGGCGGAGCCGGGCGTTTCTCGCCCTGCTGGGATCGCTGCTCCTCTCTGGGGTCCTGGCGGCCGACCGAGAACGCAGCATCCACGGTGAGGGCCGGGCGGGTAGGCTGGAGGCGGGGCGCAGGGGGCAGAGGCTCGGGGGTCAACGGGGGTCTGAGCAGGGAGAACTGGCGGGGGAGGAAACTGGGGGCTACTTGATGGCGTTCAGCGGGTGTGGTGGAACCAGCCCTGGAGGATTGAGCCTTGAAATGAGGTTTGGGAGCCTTCGACAGCGAAGACGGGCGGAGGAGCGAGGGTTAGGAGAGTTTCCTTCGGGTGGAGGAAGAGTCAAGGGGTATTGACCAAGAAGGCGTGGCACTGCCCCTTCCTGTGGCAAGAACGGGGTGAGGAGCCGAATTGAAGACCAGCCTTCTCCTGGCGGTGGAAAGTTCCATGGCCAAAGCTCAGGGAGAGGCCAGGCCTGTGAGATGGTGGGGGTTGGGTTGGGTGACCTGGTGGCCGTTTTAGACTCGGAAGAAGCCCATCTCACCCCTGCCTCTTTGGAGATTGGACAAGAGCCTCCCCTGAAGTTTTTGTAGTTGAGTTGCAGTAAAGTAGGTGCCCGAGAAGGAGGGAGCAAGAAAGGAAACAAGCTTTGGGGAAGAGGAAGCTCTGCTAAGGCTCGAGAGAGTATTGGCGTTGAGCAGCTGGTGTTGGGGTCTTTGGATTGGCCCTTAGAAGTCGGTGGTGAATAAGGTGATTTAAACTTCTACACTCTTAAGGAAGTGTGGTCTGAAAGGTCTCTTTGAACAAGTGTTGTTATAACCTTAACTGCTTCAGACAAGCACCAGCGTGTTTTGAAAAGAGCTCTCTTGAAAGCAAGAATTCATTGATTCAGCAAAACTTACTGAGGCCCTGCTACGTGTCAGGCACTGGCGCTGGTTATAACAGTTAACTCAGACTAGCTGGGTTCCTGCATTCACAGAGCTAATATTCCAGTGGGAGAGGCAGAGCTAGTGAAGGTTTAAAAAGCACTTGCCATGAGATTAAGTTACTGAGAATTAAATGAACCAGGTGAAGTACACCAACAGGGTGACGTAAGATGTTGGGGGCGGCTTTAGCTCAGGTGGTCGGGGGACGTCTCCGTGAGGAGGGTGACATCTGAGCTCTAACATGAAGAATGAGGCAGTAGCCACACGGAGACCTGGGGGACCAGTGTCCAGTTGCAGGCAATAGAGTACAAAGGCCTTGAAGCTGGAACAAGCTTGGTTGGGTTCAGGGAAAAGACAGAGCCAGCCTGGCTGGAGCAGGCGTGAAGGAGGGGAGGACTGGAGGAGGATGGGAGGTGGGAGAGGTTGGCTGCAGCCAGATGGCCTAGGGCTTTATAGACAGGTGCTGGTGCTTGAACCCGGGAGGCGGATGTTGCAGTGAGCCAAGATCGCGCCACTGCATTCCAGCTTGGGCAACAAGAGTGAAACTCCCATCTCAAAAAAAAAAAAAGAAGGCCGGGTGATGTGGCTCATGCCTGTAATCCTAGAACTTTGGGAGGCCAAGGCGGGCAGATCACTGGAGGCCAGGAGTTCAACACCACCCTAGGCAACATGATGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCCCGGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAAGCCCAGAGGCGGAGGCTGTAGTGAGCTGAGATCAAGCCACTGCACAGCAGCCTGGGCGACACAGCAAGACTCAGTCTCAAAAAAAAAAAAAAGAGCAGGCTAGGTGTGTACCAAGTCATCACCTGTGGTAACTTCTGGGGACTGGTTAATTTCTCTGTGCCCTAGGCAGGAGAAAAAAGTGAATTGGTGGGGAGAGGCTCAGCTGTAGGTGACTGGGAGTCAGGAATGCAGACGTTGATCATTCTTGCAATTCGAACCAGAATTTGGCAGCTCTGCTGGACTTTTTCAGTTTAAGTAATTACGTTAGGATGTACCTCCCAGTTACCTGGCCTCTTGCTACCTCTG 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CAAGCCTTGACGGCTCAGCACATACTTCTCTGTTTTCATGCTCAAGCCTAGGTTTAGTAGGCCTGAGTGGCAGTGGGAGATTCAAGTGCTGGGGGAGACCTTTGGCCTCACATTCAGATTCCACCTTGAGTCCCATGATCTCATTGCAAGGTTAGACTTCCATTGTTTAAGGTAAATACCATTTTGATAACTCAGTTACGGCTTTTCATGTATTATTATGCTAGGAGGGAGGCTGAAGAGTGGGAGTGGCCCTGGCTCCTGAACACACTATTCTCTTTCCTGCCTGAAGGCCTCCGCATGTGCCATTCCTGATTCTTGGAATGTTTGTCCCTTGGCCTTTATCATCCTTCAGAGTTCATTATCAAAGCCACCCCTCACAAAGCCCTTCCTCCGCCACCCCATTCAAAAGATCTCTTGTTATTTTCCATCCCAGCCCCTGATTCCTTTTCTGTATAGCACTGTCAAAGTGTTTTCAGGCCAGGTGTGGTGGTTCACGCCTGTAATACAACACTTTTGGAAGGATGAGACAGGAGGATCCCTTGAAGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGTCCCCTGTCTCCACAAAAAATTTAAAAATTAGCTGGATGTGGTGGCTCACATCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCCCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCCAAGATCACTCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTTCCATCTCAAAAAAAAAAAAAAAAAGAAATAATCTAAAAGTGTTTTCAATAATAATGCATTTATGTTGATTACCTTGTTGGCTATCCTCTACTCGTGTGCCTGCCCCACTCCATTCCCCTTTCTAGAGTCTGTTCACGTAACTCCTCTTCCAGGAAGCCCTCTTTGACTCCCAGGCTTGGTCAGGTGTCTTCTCTGGGTTTCCCCAGGGGCTTCCTTCCTCTCAATTCTGATGCTGCCTGTGCTAAGTATTTGTCTCCATATCTGTCCTGAGAACCTTGGAGCCAGGGCTCGGGGCTGTTTTTGCATGGGCCTATCACCTCCTCCAGGAAGCCCTCCTTGGCCCTCTCTCAGGCTGGATGGGAAAGCTGTCTGGGCTCCCATCATGCCCTGGTTTTCTAGCGACCCAGCCTCTGATCCCTAAGCTTGGCCTTCCCCATCACAGCTTTCATCACTTTGTGCTAAGCTTCCGCTATCACTACTCTGGGCCGTTCCTGTTTGGTGACTCAGGGACCAGTCTGGCATGGCCACCGCTGGGTCCCCAGCATTAAGCCCTGGAGCATGAGCCCAGTGAACTTTGAAATTCAGGAAGGAATTCACAGGAAAGCTGCGGCGAGGCGGGCAGAAAACCACAGGCTTCCAAGAAACGCGTGTCTGCCGCCCCCTCCTCCCACCCTGAGGCCAGTCCTAGAGCGAAGGCCCTCCTCCGACGTCGTCACCAAGCCCAAGGGAAGGGTGGCAGGTGCTCAGCGGGCAGACGCCCCGCCCCGCCCCGCCAGGTTCTGTTGGGGGCGAGGCCCGCGCAAGCCCCGCCTCTTCCCCGGCACCAGGGGCGGGCCCAGGTGCGCCCAGGGCCGGGGAGCGGCCGCGCAGGTGCCTGCCCTTTGCGCCTGCGCCCAGCTCGCCCTGCCTAGCCAGGTGCGCCCCGCCCCCTGCCTGCCCGGCCACCTTCGGGAGCCGCTTCCAATAGGCGTTCGCCATTGGCTCTGGCGACCTCCGCGCGTTGGGAGGTGTAGCGCGGCTCTGAACGCGCTGAGGGCCGTTGAGTGTCGCAGGCGGCGAGGGCGCGAGTGAGGAGCAGACCCAGGCATCGCGCGCCGAGAAGGCCGGGCGTCCCCACACTGAAGGTCCGGAAAGGCGACTTCCGGGGGCTTTGGCACCTGGCGGACCCTCCCGGAGCGTCGGCACCTGAACGCGAGGCGCTCCATTGCGCGTGCGCGTTGAGGGGCTTCCCGCACCTGATCGCGAGACCCCAACGGCTGGTGGCGTCGCCTGCGCGTCTCGGCTGAGCTGGCCATAGCGCAGCTGTGCGGGCTGAGGCGGAGCCGGGCGTTTCTCGCCCTGCTGGGATCGCTGCTCCTCTCTGGGGTCCTGGCGGCCGACCGAGAACGCAGCATCCACGGTGAGGGCCGGGCGGGTAGGCTGGAGGCGGGGCGCAGGGGGCAGAGGCTCGGGGGTCAACGGGGGTCTGAGCAGGGAGAACTGGCGGGGGAGGAAACTGGGGGCTACTTGATGGCGTTCAGCGGGTGTGGTGGAACCAGCCCTGGAGGATTGAGCCTTGAAATGAGGTTTGGGAGCCTTCGACAGCGAAGACGGGCGGAGGAGCGAGGGTTAGGAGAGTTTCCTTCGGGTGGAGGAAGAGTCAAGGGGTATTGACCAAGAAGGCGTGGCACTGCCCCTTCCTGTGGCAAGAACGGGGTGAGGAGCCGAATTGAAGACCAGCCTTCTCCTGGCGGTGGAAAGTTCCATGGCCAAAGCTCAGGGAGAGGCCAGGCCTGTGAGATGGTGGGGGTTGGGTTGGGTGACCTGGTGGCCGTTTTAGACTCGGAAGAAGCCCATCTCACCCCTGCCTCTTTGGAGATTGGACAAGAGCCTCCCCTGAAGTTTTTGTAGTTGAGTTGCAGTAAAGTAGGTGCCCGAGAAGGAGGGAGCAAGAAAGGAAACAAGCTTTGGGGAAGAGGAAGCTCTGCTAAGGCTCGAGAGAGTATTGGCGTTGAGCAGCTGGTGTTGGGGTCTTTGGATTGGCCCTTAGAAGTCGGTGGTGAATAAGGTGATTTAAACTTCTACACTCTTAAGGAAGTGTGGTCTGAAAGGTCTCTTTGAACAAGTGTTGTTATAACCTTAACTGCTTCAGACAAGCACCAGCGTGTTTTGAAAAGAGCTCTCTTGAAAGCAAGAATTCATTGATTCAGCAAAACTTACTGAGGCCCTGCTACGTGTCAGGCACTGGCGCTGGTTATAACAGTTAACTCAGACTAGCTGGGTTCCTGCATTCACAGAGCTAATATTCCAGTGGGAGAGGCAGAGCTAGTGAAGGTTTAAAAAGCACTTGCCATGAGATTAAGTTACTGAGAATTAAATGAACCAGGTGAAGTACACCAACAGGGTGACGTAAGATGTTGGGGGCGGCTTTAGCTCAGGTGGTCGGGGGACGTCTCCGTGAGGAGGGTGACATCTGAGCTCTAACATGAAGAATGAGGCAGTAGCCACACGGAGACCTGGGGGACCAGTGTCCAGTTGCAGGCAATAGAGTACAAAGGCCTTGAAGCTGGAACAAGCTTGGTTGGGTTCAGGGAAAAGACAGAGCCAGCCTGGCTGGAGCAGGCGTGAAGGAGGGGAGGACTGGAGGAGGATGGGAGGTGGGAGAGGTTGGCTGCAGCCAGATGGCCTAGGGCTTTATAGACAGGTGCTGGTGCTTGAACCCGGGAGGCGGATGTTGCAGTGAGCCAAGATCGCGCCACTGCATTCCAGCTTGGGCAACAAGAGTGAAACTCCCATCTCAAAAAAAAAAAAAGAAGGCCGGGTGATGTGGCTCATGCCTGTAATCCTAGAACTTTGGGAGGCCAAGGCGGGCAGATCACTGGAGGCCAGGAGTTCAACACCACCCTAGGCAACATGATGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCCCGGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAAGCCCAGAGGCGGAGGCTGTAGTGAGCTGAGATCAAGCCACTGCACAGCAGCCTGGGCGACACAGCAAGACTCAGTCTCAAAAAAAAAAAAAAGAGCAGGCTAGGTGTGTACCAAGTCATCACCTGTGGTAACTTCTGGGGACTGGTTAATTTCTCTGTGCCCTAGGCAGGAGAAAAAAGTGAATTGGTGGGGAGAGGCTCAGCTGTAGGTGACTGGGAGTCAGGAATGCAGACGTTGATCATTCTTGCAATTCGAACCAGAATTTGGCAGCTCTGCTGGACTTTTTCAGTTTAAGTAATTACGTTAGGATGTACCTCCCAGTTACCTGGCCTCTTGCTACCTCTG 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Task1_train_27066 | This variant affects the gene SPINT2 (serine peptidase inhibitor, Kunitz type 2) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Congenital secretory sodium diarrhea 3 | TGGCCCCCATCTCCTCCTGGAGGATGGGATGGAGGTGGCTGCTGCCCATGAGGCTCAGGCCCCTCCTTGCTGTGCGGGCCTCCAGCTGCTCTGCTGACCCCACTCCCCACCCACCCTCCTGTCTGCCTGTTCTGTCTCCTCTGCTTCCTTTGCTCCCTGTTGCCATCGCTGTCCCCTGCCCCGTGGGCATCCTCTGTCCTCTGCCACCCCCGCCTCCCCGCCACTGCAGCTTGTGATCTCAAGATGTGTGTTAGCTTGCTTTGTAGTGCTGGCGGCTGCTGCCCCATTCCTCCTTTATGGTTTAAGGACTCTGCATCGGGCGCCTGGGGTGAGTGGTCCCGATGCACTACCAGGTAGCAAATGCACCCTCGGGGCAGACCTCAGGCCATGGACTCTGGGAGGCTGCTGTGGAGGGGGTACTGCACCGCACCCCTGCTGGAGGATGGGACTCCCCCGGCAGCTGCTACCCACCGAGTGCACTGTAGCTCAGCAGCTGTTGGGCCGGCTGGCTTGCAGAGTGCTGGGGCGTTAGGGTGGTCACTTTCCAGCTTTGCTAGGCCTGGAGTCCTGTGCCTGTCCTGGCTTTGCTCTGCCTGGCTCCCTGTTTATCCTCTGCTAGCCCCCCCACACACCAGCTCTGGTTTCCATCTTGTTGGAGAGGAACATGTCCCCCTCACTGTATTAGAAAGTGTGAACAAGACCGTGTTCCCTATAATATTAGGAGCTGTGGCAGGCTTGGTTTCTATAGGAACCCTGAGGTGGCGGCAGGGCCACCACATCCAGCACTCTCAGTGTGTGCGTAGAGCCCATTAGGGCTGGGGTGACGTGGCAGAGCCGGCCATGGAAGGGGCTACACACCCCTTCTTAAAGGCGTGTCCACACTCCTCAGTGGGCCCTTCCAGACCCAGACCCAGCTAGGCCTGTGTCCTGTGTCCGGCCCAGCCTCCCTAACACAGATGTTTGTGTTTCAGCTCCCAGAAGGCAGGATTCTGAAGACCACTCCAGCGATATGTTCAACTATGAAGGTAAAACTCCAAAGAGGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGCGCTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGATATCAAGACCATCCTAACATGGTGAAACCCTGTCTCTACTAAAAATACGAAAAATTAGCTGGACGTAGTGGCATGCACCTGTAGTCCCAGCTACTCAGGAGACTGAGGCAGGAGAATTGCTCAAAGCCTGGGAGGCGGAGGGTGCAATGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTCCGAAGAAACTTATATATGGGGCAAAACATGTATTCTTAGTTGGGTATTGAGAGACACTTGCGGATTTTCACTGAGGAAGTTGTAGAGCAGGGCTCTCCCCTCCCCAGGTGGTGGCAGCCCCCTGAGGTTGGGGTCAAGGTGACAGGCCCCACGTGGATGCCGCCAGCAGTGGGAAGGAGGCTGCGCCTGTGGAGATGTGCGTTAGAGGCGTAGCCTGGCACGTGGCTCTGCAATTTACATTGTCCCTGAACCTCTCGCCAGCGGCTTGGCTGTGGGCAAGTGACTGTTGCCCCGCCTCAGAGTTCCCATGTATAAAATGAAGGGTCCCAGATAGGTCTCATAGAGACTCAGCCACTGCATGTAAAAGGCCTAGAACAGGGCTTGGCAGAGAGCAGCCTTCAAAGCTCCGAAGCCGTCACCTGGACCCAAGGAGCAGCGCGTCAGAGCCGCTGCACTGGTCTTGGGTGTAATTTACAGGCTTCTTTACCAGAGAGATGTTTCTCCGTCTGCTGGAGCCGCAAGCCTCCTCAGGCACTTTCTGGCTTGCTTCCCCTCCTTGCGGGCCCTACTAATTTGTATTCCCTGGGCTGTCTTACTCCTAGAATACTGCACCGCCAACGCAGTCACTGGGCCTTGCCGTGCATCCTTCCCACGCTGGTACTTTGACGTGGAGAGGAACTCCTGCAATAACTTCATCTATGGAGGCTGCCGGGGCAATAAGAACAGCTACCGCTCTGAGGAGGCCTGCATGCTCCGCTGCTTCCGTAAGTCTGCAGCCCCTCAGCCCAGGAAGCCCTGCCCTTGAGGACCCCGGTCCATCTCCCCATCCCTAAAATATGAAGGCCTTGGAAATGCTGTTCTTGGGCCCACCAGGGCAGCAAGGCCTCTAAGCCCCAGAAAAGCTGGAAGAAAGCCCCTCAGAAAGAGCTCCCCATGGAGGCCCTGGCTGAGGGGATCCCCTGCGGCAGCTCTGTGGAATGGGGGCTGTGAGCTGACCTCAGGCTGTGTGTTCTCTTCCAGGCCAGCAGGAGAATCCTCCCCTGCCCCTTGGCTCAAAGGGTAAGTGGCCCCTTACCCTCCTCCTGCCATCAGCCTGCCTCCTCCCTTCCTTGACTGAGCTCAGCCCTGCCCAGCTGTGGTTTACATTATCCTTCACTGTGAACATCATCTTGGCAGAAAGTCATGTTTCTGCGTGAGAATGGCGAGGTGGTGGTTTGTCCCACCGTTCAGTGTACACAGTTGGGGCTGGAGTGAGTCAGTCACAAGGCAGGCCCTGCCCAGGCGGCGTGGGTGACTGGGGATGAGGTCTTCCTGTTGAGCATTTGAGGACTGCTGCACACGGGCCTGAGGCTGGCCTGAGGTGTGGAGGGAGCGCTGCTATGTGGGGCATAAGAGTTGGTCACGGGTGACAGGACGGAGGACCACGGGCCAGGGTGTTTCCCAACACAGTCTGGTCTGAGCGGGAGGCCAGGCCTCTGGCCTGTGTTTCTGAGCTTGAGTTGCAGGTGATAATGTTGGCACAAAAGACCTGCCATGCCAGTCTGGCCTCTTTCTCCACCTGTTTCCCGGTGAAGGAGCCAGGACCTGGCCTGCGAGTCTGTCCTGTTCTAGCAGTGAAGCCTGGTTTGCCAGGCACGGGGCTGGGAAGCAAGCAGTCTGGGTCTGGAGGGTGGCCCCAAAAAGGCCAACTCTGCAGCTCCACAGCCACATGGGGGAGGCTGCCACAGGTCACACTCCTTAGCCGGATCCCCTCCTGAAGAAAAGCATCTGAGCTGACCAGCGAGACTGCAGTGGGGCAGACACTATTAAATTTGCTGGCACAGCTCTGAGTACCCCCTCGCTTCCACCCTGACTTCATCCCGCAGTAGCTCTCAGCCCTCCCAGCCCCTGCAGGGCCACGTCTTTCTCTATTGCCGGTCAGCGTGTGTGTGCACAAAGCCCCTAAGGTTTCATGTGTACACACCGGTGCTAAGTGTTTTTTACACCCTTGTGCATCTCTCGGCCTGGGGCTCCTGTGCAGGTTGCCCTGAGAGTTGGGTTTTTAGTTCAAAAAGAAGGAACACAGATGACTACTCTGCTGGCGACACGGCCACTCTGCTGGCACGCACATAGCATGGCGCCTCCTTTTTTGGGGGACTCTCCTTGGTGGCATCTCTGGCAGGCTGTGTCCTCTCCAGCTGCAGTTCTGGACCCTGTCTGGGTTGGGGAGGGGCATTTGGTCCTCAGGCTGAGCCCACCTGGATTCCCCAGGCCCTTGGTGAGCGCCACTCTGGCTGCAACTCCCCTTGCCTGGCCCGTCCTGAGGCCCCTCTCTCGTCCTCAGTGGTGGTTCTGGCGGGGCTGTTCGTGATGGTGTTGATCCTCTTCCTGGGAGCCTCCATGGTCTACCTGATCCGGGTGGCACGGAGGAACCAGGAGCGTGCCCTGCGCACCGTCTGGAGCTCCGGAGATGACAAGGAGCAGCTGGTGAAGAACACATATGTCCTGTGACCGCCCTGTCGCCAAGAGGACTGGGGAAGGGAGGGGAGACTATGTGTGAGCTTTTTTTAAATAGAGGGATTGACTCGGATTTGAGTGATCATTAGGGCTGAGGTCTGTTTCTCTGGGAGGTAGGACGGCTGCTTCCTGGTCTGGCAGGGATGGGTTTGCTTTGGAAATCCTCTAGGAGGCTCCTCCTCGCATGGCCTGCAGTCTGGCAGCAGCCCCGAGTTGTTTCCTCGCTGATCGATTTCTTTCCTCCAGGTAG 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TGGCCCCCATCTCCTCCTGGAGGATGGGATGGAGGTGGCTGCTGCCCATGAGGCTCAGGCCCCTCCTTGCTGTGCGGGCCTCCAGCTGCTCTGCTGACCCCACTCCCCACCCACCCTCCTGTCTGCCTGTTCTGTCTCCTCTGCTTCCTTTGCTCCCTGTTGCCATCGCTGTCCCCTGCCCCGTGGGCATCCTCTGTCCTCTGCCACCCCCGCCTCCCCGCCACTGCAGCTTGTGATCTCAAGATGTGTGTTAGCTTGCTTTGTAGTGCTGGCGGCTGCTGCCCCATTCCTCCTTTATGGTTTAAGGACTCTGCATCGGGCGCCTGGGGTGAGTGGTCCCGATGCACTACCAGGTAGCAAATGCACCCTCGGGGCAGACCTCAGGCCATGGACTCTGGGAGGCTGCTGTGGAGGGGGTACTGCACCGCACCCCTGCTGGAGGATGGGACTCCCCCGGCAGCTGCTACCCACCGAGTGCACTGTAGCTCAGCAGCTGTTGGGCCGGCTGGCTTGCAGAGTGCTGGGGCGTTAGGGTGGTCACTTTCCAGCTTTGCTAGGCCTGGAGTCCTGTGCCTGTCCTGGCTTTGCTCTGCCTGGCTCCCTGTTTATCCTCTGCTAGCCCCCCCACACACCAGCTCTGGTTTCCATCTTGTTGGAGAGGAACATGTCCCCCTCACTGTATTAGAAAGTGTGAACAAGACCGTGTTCCCTATAATATTAGGAGCTGTGGCAGGCTTGGTTTCTATAGGAACCCTGAGGTGGCGGCAGGGCCACCACATCCAGCACTCTCAGTGTGTGCGTAGAGCCCATTAGGGCTGGGGTGACGTGGCAGAGCCGGCCATGGAAGGGGCTACACACCCCTTCTTAAAGGCGTGTCCACACTCCTCAGTGGGCCCTTCCAGACCCAGACCCAGCTAGGCCTGTGTCCTGTGTCCGGCCCAGCCTCCCTAACACAGATGTTTGTGTTTCAGCTCCCAGAAGGCAGGATTCTGAAGACCACTCCAGCGATATGTTCAACTATGAAGGTAAAACTCCAAAGAGGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGCGCTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGATATCAAGACCATCCTAACATGGTGAAACCCTGTCTCTACTAAAAATACGAAAAATTAGCTGGACGTAGTGGCATGCACCTGTAGTCCCAGCTACTCAGGAGACTGAGGCAGGAGAATTGCTCAAAGCCTGGGAGGCGGAGGGTGCAATGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTCCGAAGAAACTTATATATGGGGCAAAACATGTATTCTTAGTTGGGTATTGAGAGACACTTGCGGATTTTCACTGAGGAAGTTGTAGAGCAGGGCTCTCCCCTCCCCAGGTGGTGGCAGCCCCCTGAGGTTGGGGTCAAGGTGACAGGCCCCACGTGGATGCCGCCAGCAGTGGGAAGGAGGCTGCGCCTGTGGAGATGTGCGTTAGAGGCGTAGCCTGGCACGTGGCTCTGCAATTTACATTGTCCCTGAACCTCTCGCCAGCGGCTTGGCTGTGGGCAAGTGACTGTTGCCCCGCCTCAGAGTTCCCATGTATAAAATGAAGGGTCCCAGATAGGTCTCATAGAGACTCAGCCACTGCATGTAAAAGGCCTAGAACAGGGCTTGGCAGAGAGCAGCCTTCAAAGCTCCGAAGCCGTCACCTGGACCCAAGGAGCAGCGCGTCAGAGCCGCTGCACTGGTCTTGGGTGTAATTTACAGGCTTCTTTACCAGAGAGATGTTTCTCCGTCTGCTGGAGCCGCAAGCCTCCTCAGGCACTTTCTGGCTTGCTTCCCCTCCTTGCGGGCCCTACTAATTTGTATTCCCTGGGCTGTCTTACTCCTAGAATACTGCACCGCCAACGCAGTCACTGGGCCTTGCCGTGCATCCTTCCCACGCTGGTACTTTGACGTGGAGAGGAACTCCTGCAATAACTTCATCTGTGGAGGCTGCCGGGGCAATAAGAACAGCTACCGCTCTGAGGAGGCCTGCATGCTCCGCTGCTTCCGTAAGTCTGCAGCCCCTCAGCCCAGGAAGCCCTGCCCTTGAGGACCCCGGTCCATCTCCCCATCCCTAAAATATGAAGGCCTTGGAAATGCTGTTCTTGGGCCCACCAGGGCAGCAAGGCCTCTAAGCCCCAGAAAAGCTGGAAGAAAGCCCCTCAGAAAGAGCTCCCCATGGAGGCCCTGGCTGAGGGGATCCCCTGCGGCAGCTCTGTGGAATGGGGGCTGTGAGCTGACCTCAGGCTGTGTGTTCTCTTCCAGGCCAGCAGGAGAATCCTCCCCTGCCCCTTGGCTCAAAGGGTAAGTGGCCCCTTACCCTCCTCCTGCCATCAGCCTGCCTCCTCCCTTCCTTGACTGAGCTCAGCCCTGCCCAGCTGTGGTTTACATTATCCTTCACTGTGAACATCATCTTGGCAGAAAGTCATGTTTCTGCGTGAGAATGGCGAGGTGGTGGTTTGTCCCACCGTTCAGTGTACACAGTTGGGGCTGGAGTGAGTCAGTCACAAGGCAGGCCCTGCCCAGGCGGCGTGGGTGACTGGGGATGAGGTCTTCCTGTTGAGCATTTGAGGACTGCTGCACACGGGCCTGAGGCTGGCCTGAGGTGTGGAGGGAGCGCTGCTATGTGGGGCATAAGAGTTGGTCACGGGTGACAGGACGGAGGACCACGGGCCAGGGTGTTTCCCAACACAGTCTGGTCTGAGCGGGAGGCCAGGCCTCTGGCCTGTGTTTCTGAGCTTGAGTTGCAGGTGATAATGTTGGCACAAAAGACCTGCCATGCCAGTCTGGCCTCTTTCTCCACCTGTTTCCCGGTGAAGGAGCCAGGACCTGGCCTGCGAGTCTGTCCTGTTCTAGCAGTGAAGCCTGGTTTGCCAGGCACGGGGCTGGGAAGCAAGCAGTCTGGGTCTGGAGGGTGGCCCCAAAAAGGCCAACTCTGCAGCTCCACAGCCACATGGGGGAGGCTGCCACAGGTCACACTCCTTAGCCGGATCCCCTCCTGAAGAAAAGCATCTGAGCTGACCAGCGAGACTGCAGTGGGGCAGACACTATTAAATTTGCTGGCACAGCTCTGAGTACCCCCTCGCTTCCACCCTGACTTCATCCCGCAGTAGCTCTCAGCCCTCCCAGCCCCTGCAGGGCCACGTCTTTCTCTATTGCCGGTCAGCGTGTGTGTGCACAAAGCCCCTAAGGTTTCATGTGTACACACCGGTGCTAAGTGTTTTTTACACCCTTGTGCATCTCTCGGCCTGGGGCTCCTGTGCAGGTTGCCCTGAGAGTTGGGTTTTTAGTTCAAAAAGAAGGAACACAGATGACTACTCTGCTGGCGACACGGCCACTCTGCTGGCACGCACATAGCATGGCGCCTCCTTTTTTGGGGGACTCTCCTTGGTGGCATCTCTGGCAGGCTGTGTCCTCTCCAGCTGCAGTTCTGGACCCTGTCTGGGTTGGGGAGGGGCATTTGGTCCTCAGGCTGAGCCCACCTGGATTCCCCAGGCCCTTGGTGAGCGCCACTCTGGCTGCAACTCCCCTTGCCTGGCCCGTCCTGAGGCCCCTCTCTCGTCCTCAGTGGTGGTTCTGGCGGGGCTGTTCGTGATGGTGTTGATCCTCTTCCTGGGAGCCTCCATGGTCTACCTGATCCGGGTGGCACGGAGGAACCAGGAGCGTGCCCTGCGCACCGTCTGGAGCTCCGGAGATGACAAGGAGCAGCTGGTGAAGAACACATATGTCCTGTGACCGCCCTGTCGCCAAGAGGACTGGGGAAGGGAGGGGAGACTATGTGTGAGCTTTTTTTAAATAGAGGGATTGACTCGGATTTGAGTGATCATTAGGGCTGAGGTCTGTTTCTCTGGGAGGTAGGACGGCTGCTTCCTGGTCTGGCAGGGATGGGTTTGCTTTGGAAATCCTCTAGGAGGCTCCTCCTCGCATGGCCTGCAGTCTGGCAGCAGCCCCGAGTTGTTTCCTCGCTGATCGATTTCTTTCCTCCAGGTAG 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Task1_train_27067 | A mutation in SPINT2 (serine peptidase inhibitor, Kunitz type 2), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Congenital secretory sodium diarrhea 3 | TCCTGGAGGATGGGATGGAGGTGGCTGCTGCCCATGAGGCTCAGGCCCCTCCTTGCTGTGCGGGCCTCCAGCTGCTCTGCTGACCCCACTCCCCACCCACCCTCCTGTCTGCCTGTTCTGTCTCCTCTGCTTCCTTTGCTCCCTGTTGCCATCGCTGTCCCCTGCCCCGTGGGCATCCTCTGTCCTCTGCCACCCCCGCCTCCCCGCCACTGCAGCTTGTGATCTCAAGATGTGTGTTAGCTTGCTTTGTAGTGCTGGCGGCTGCTGCCCCATTCCTCCTTTATGGTTTAAGGACTCTGCATCGGGCGCCTGGGGTGAGTGGTCCCGATGCACTACCAGGTAGCAAATGCACCCTCGGGGCAGACCTCAGGCCATGGACTCTGGGAGGCTGCTGTGGAGGGGGTACTGCACCGCACCCCTGCTGGAGGATGGGACTCCCCCGGCAGCTGCTACCCACCGAGTGCACTGTAGCTCAGCAGCTGTTGGGCCGGCTGGCTTGCAGAGTGCTGGGGCGTTAGGGTGGTCACTTTCCAGCTTTGCTAGGCCTGGAGTCCTGTGCCTGTCCTGGCTTTGCTCTGCCTGGCTCCCTGTTTATCCTCTGCTAGCCCCCCCACACACCAGCTCTGGTTTCCATCTTGTTGGAGAGGAACATGTCCCCCTCACTGTATTAGAAAGTGTGAACAAGACCGTGTTCCCTATAATATTAGGAGCTGTGGCAGGCTTGGTTTCTATAGGAACCCTGAGGTGGCGGCAGGGCCACCACATCCAGCACTCTCAGTGTGTGCGTAGAGCCCATTAGGGCTGGGGTGACGTGGCAGAGCCGGCCATGGAAGGGGCTACACACCCCTTCTTAAAGGCGTGTCCACACTCCTCAGTGGGCCCTTCCAGACCCAGACCCAGCTAGGCCTGTGTCCTGTGTCCGGCCCAGCCTCCCTAACACAGATGTTTGTGTTTCAGCTCCCAGAAGGCAGGATTCTGAAGACCACTCCAGCGATATGTTCAACTATGAAGGTAAAACTCCAAAGAGGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGCGCTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGATATCAAGACCATCCTAACATGGTGAAACCCTGTCTCTACTAAAAATACGAAAAATTAGCTGGACGTAGTGGCATGCACCTGTAGTCCCAGCTACTCAGGAGACTGAGGCAGGAGAATTGCTCAAAGCCTGGGAGGCGGAGGGTGCAATGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTCCGAAGAAACTTATATATGGGGCAAAACATGTATTCTTAGTTGGGTATTGAGAGACACTTGCGGATTTTCACTGAGGAAGTTGTAGAGCAGGGCTCTCCCCTCCCCAGGTGGTGGCAGCCCCCTGAGGTTGGGGTCAAGGTGACAGGCCCCACGTGGATGCCGCCAGCAGTGGGAAGGAGGCTGCGCCTGTGGAGATGTGCGTTAGAGGCGTAGCCTGGCACGTGGCTCTGCAATTTACATTGTCCCTGAACCTCTCGCCAGCGGCTTGGCTGTGGGCAAGTGACTGTTGCCCCGCCTCAGAGTTCCCATGTATAAAATGAAGGGTCCCAGATAGGTCTCATAGAGACTCAGCCACTGCATGTAAAAGGCCTAGAACAGGGCTTGGCAGAGAGCAGCCTTCAAAGCTCCGAAGCCGTCACCTGGACCCAAGGAGCAGCGCGTCAGAGCCGCTGCACTGGTCTTGGGTGTAATTTACAGGCTTCTTTACCAGAGAGATGTTTCTCCGTCTGCTGGAGCCGCAAGCCTCCTCAGGCACTTTCTGGCTTGCTTCCCCTCCTTGCGGGCCCTACTAATTTGTATTCCCTGGGCTGTCTTACTCCTAGAATACTGCACCGCCAACGCAGTCACTGGGCCTTGCCGTGCATCCTTCCCACGCTGGTACTTTGACGTGGAGAGGAACTCCTGCAATAACTTCATCTATGGAGGCTGCCGGGGCAATAAGAACAGCTACCGCTCTGAGGAGGCCTGCATGCTCCGCTGCTTCCGTAAGTCTGCAGCCCCTCAGCCCAGGAAGCCCTGCCCTTGAGGACCCCGGTCCATCTCCCCATCCCTAAAATATGAAGGCCTTGGAAATGCTGTTCTTGGGCCCACCAGGGCAGCAAGGCCTCTAAGCCCCAGAAAAGCTGGAAGAAAGCCCCTCAGAAAGAGCTCCCCATGGAGGCCCTGGCTGAGGGGATCCCCTGCGGCAGCTCTGTGGAATGGGGGCTGTGAGCTGACCTCAGGCTGTGTGTTCTCTTCCAGGCCAGCAGGAGAATCCTCCCCTGCCCCTTGGCTCAAAGGGTAAGTGGCCCCTTACCCTCCTCCTGCCATCAGCCTGCCTCCTCCCTTCCTTGACTGAGCTCAGCCCTGCCCAGCTGTGGTTTACATTATCCTTCACTGTGAACATCATCTTGGCAGAAAGTCATGTTTCTGCGTGAGAATGGCGAGGTGGTGGTTTGTCCCACCGTTCAGTGTACACAGTTGGGGCTGGAGTGAGTCAGTCACAAGGCAGGCCCTGCCCAGGCGGCGTGGGTGACTGGGGATGAGGTCTTCCTGTTGAGCATTTGAGGACTGCTGCACACGGGCCTGAGGCTGGCCTGAGGTGTGGAGGGAGCGCTGCTATGTGGGGCATAAGAGTTGGTCACGGGTGACAGGACGGAGGACCACGGGCCAGGGTGTTTCCCAACACAGTCTGGTCTGAGCGGGAGGCCAGGCCTCTGGCCTGTGTTTCTGAGCTTGAGTTGCAGGTGATAATGTTGGCACAAAAGACCTGCCATGCCAGTCTGGCCTCTTTCTCCACCTGTTTCCCGGTGAAGGAGCCAGGACCTGGCCTGCGAGTCTGTCCTGTTCTAGCAGTGAAGCCTGGTTTGCCAGGCACGGGGCTGGGAAGCAAGCAGTCTGGGTCTGGAGGGTGGCCCCAAAAAGGCCAACTCTGCAGCTCCACAGCCACATGGGGGAGGCTGCCACAGGTCACACTCCTTAGCCGGATCCCCTCCTGAAGAAAAGCATCTGAGCTGACCAGCGAGACTGCAGTGGGGCAGACACTATTAAATTTGCTGGCACAGCTCTGAGTACCCCCTCGCTTCCACCCTGACTTCATCCCGCAGTAGCTCTCAGCCCTCCCAGCCCCTGCAGGGCCACGTCTTTCTCTATTGCCGGTCAGCGTGTGTGTGCACAAAGCCCCTAAGGTTTCATGTGTACACACCGGTGCTAAGTGTTTTTTACACCCTTGTGCATCTCTCGGCCTGGGGCTCCTGTGCAGGTTGCCCTGAGAGTTGGGTTTTTAGTTCAAAAAGAAGGAACACAGATGACTACTCTGCTGGCGACACGGCCACTCTGCTGGCACGCACATAGCATGGCGCCTCCTTTTTTGGGGGACTCTCCTTGGTGGCATCTCTGGCAGGCTGTGTCCTCTCCAGCTGCAGTTCTGGACCCTGTCTGGGTTGGGGAGGGGCATTTGGTCCTCAGGCTGAGCCCACCTGGATTCCCCAGGCCCTTGGTGAGCGCCACTCTGGCTGCAACTCCCCTTGCCTGGCCCGTCCTGAGGCCCCTCTCTCGTCCTCAGTGGTGGTTCTGGCGGGGCTGTTCGTGATGGTGTTGATCCTCTTCCTGGGAGCCTCCATGGTCTACCTGATCCGGGTGGCACGGAGGAACCAGGAGCGTGCCCTGCGCACCGTCTGGAGCTCCGGAGATGACAAGGAGCAGCTGGTGAAGAACACATATGTCCTGTGACCGCCCTGTCGCCAAGAGGACTGGGGAAGGGAGGGGAGACTATGTGTGAGCTTTTTTTAAATAGAGGGATTGACTCGGATTTGAGTGATCATTAGGGCTGAGGTCTGTTTCTCTGGGAGGTAGGACGGCTGCTTCCTGGTCTGGCAGGGATGGGTTTGCTTTGGAAATCCTCTAGGAGGCTCCTCCTCGCATGGCCTGCAGTCTGGCAGCAGCCCCGAGTTGTTTCCTCGCTGATCGATTTCTTTCCTCCAGGTAGAGTTTTCTTTGCTT 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TCCTGGAGGATGGGATGGAGGTGGCTGCTGCCCATGAGGCTCAGGCCCCTCCTTGCTGTGCGGGCCTCCAGCTGCTCTGCTGACCCCACTCCCCACCCACCCTCCTGTCTGCCTGTTCTGTCTCCTCTGCTTCCTTTGCTCCCTGTTGCCATCGCTGTCCCCTGCCCCGTGGGCATCCTCTGTCCTCTGCCACCCCCGCCTCCCCGCCACTGCAGCTTGTGATCTCAAGATGTGTGTTAGCTTGCTTTGTAGTGCTGGCGGCTGCTGCCCCATTCCTCCTTTATGGTTTAAGGACTCTGCATCGGGCGCCTGGGGTGAGTGGTCCCGATGCACTACCAGGTAGCAAATGCACCCTCGGGGCAGACCTCAGGCCATGGACTCTGGGAGGCTGCTGTGGAGGGGGTACTGCACCGCACCCCTGCTGGAGGATGGGACTCCCCCGGCAGCTGCTACCCACCGAGTGCACTGTAGCTCAGCAGCTGTTGGGCCGGCTGGCTTGCAGAGTGCTGGGGCGTTAGGGTGGTCACTTTCCAGCTTTGCTAGGCCTGGAGTCCTGTGCCTGTCCTGGCTTTGCTCTGCCTGGCTCCCTGTTTATCCTCTGCTAGCCCCCCCACACACCAGCTCTGGTTTCCATCTTGTTGGAGAGGAACATGTCCCCCTCACTGTATTAGAAAGTGTGAACAAGACCGTGTTCCCTATAATATTAGGAGCTGTGGCAGGCTTGGTTTCTATAGGAACCCTGAGGTGGCGGCAGGGCCACCACATCCAGCACTCTCAGTGTGTGCGTAGAGCCCATTAGGGCTGGGGTGACGTGGCAGAGCCGGCCATGGAAGGGGCTACACACCCCTTCTTAAAGGCGTGTCCACACTCCTCAGTGGGCCCTTCCAGACCCAGACCCAGCTAGGCCTGTGTCCTGTGTCCGGCCCAGCCTCCCTAACACAGATGTTTGTGTTTCAGCTCCCAGAAGGCAGGATTCTGAAGACCACTCCAGCGATATGTTCAACTATGAAGGTAAAACTCCAAAGAGGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGCGCTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGATATCAAGACCATCCTAACATGGTGAAACCCTGTCTCTACTAAAAATACGAAAAATTAGCTGGACGTAGTGGCATGCACCTGTAGTCCCAGCTACTCAGGAGACTGAGGCAGGAGAATTGCTCAAAGCCTGGGAGGCGGAGGGTGCAATGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTCCGAAGAAACTTATATATGGGGCAAAACATGTATTCTTAGTTGGGTATTGAGAGACACTTGCGGATTTTCACTGAGGAAGTTGTAGAGCAGGGCTCTCCCCTCCCCAGGTGGTGGCAGCCCCCTGAGGTTGGGGTCAAGGTGACAGGCCCCACGTGGATGCCGCCAGCAGTGGGAAGGAGGCTGCGCCTGTGGAGATGTGCGTTAGAGGCGTAGCCTGGCACGTGGCTCTGCAATTTACATTGTCCCTGAACCTCTCGCCAGCGGCTTGGCTGTGGGCAAGTGACTGTTGCCCCGCCTCAGAGTTCCCATGTATAAAATGAAGGGTCCCAGATAGGTCTCATAGAGACTCAGCCACTGCATGTAAAAGGCCTAGAACAGGGCTTGGCAGAGAGCAGCCTTCAAAGCTCCGAAGCCGTCACCTGGACCCAAGGAGCAGCGCGTCAGAGCCGCTGCACTGGTCTTGGGTGTAATTTACAGGCTTCTTTACCAGAGAGATGTTTCTCCGTCTGCTGGAGCCGCAAGCCTCCTCAGGCACTTTCTGGCTTGCTTCCCCTCCTTGCGGGCCCTACTAATTTGTATTCCCTGGGCTGTCTTACTCCTAGAATACTGCACCGCCAACGCAGTCACTGGGCCTTGCCGTGCATCCTTCCCACGCTGGTACTTTGACGTGGAGAGGAACTCCTGCAATAACTTCATCTATGGAGGCTGCCGGAGCAATAAGAACAGCTACCGCTCTGAGGAGGCCTGCATGCTCCGCTGCTTCCGTAAGTCTGCAGCCCCTCAGCCCAGGAAGCCCTGCCCTTGAGGACCCCGGTCCATCTCCCCATCCCTAAAATATGAAGGCCTTGGAAATGCTGTTCTTGGGCCCACCAGGGCAGCAAGGCCTCTAAGCCCCAGAAAAGCTGGAAGAAAGCCCCTCAGAAAGAGCTCCCCATGGAGGCCCTGGCTGAGGGGATCCCCTGCGGCAGCTCTGTGGAATGGGGGCTGTGAGCTGACCTCAGGCTGTGTGTTCTCTTCCAGGCCAGCAGGAGAATCCTCCCCTGCCCCTTGGCTCAAAGGGTAAGTGGCCCCTTACCCTCCTCCTGCCATCAGCCTGCCTCCTCCCTTCCTTGACTGAGCTCAGCCCTGCCCAGCTGTGGTTTACATTATCCTTCACTGTGAACATCATCTTGGCAGAAAGTCATGTTTCTGCGTGAGAATGGCGAGGTGGTGGTTTGTCCCACCGTTCAGTGTACACAGTTGGGGCTGGAGTGAGTCAGTCACAAGGCAGGCCCTGCCCAGGCGGCGTGGGTGACTGGGGATGAGGTCTTCCTGTTGAGCATTTGAGGACTGCTGCACACGGGCCTGAGGCTGGCCTGAGGTGTGGAGGGAGCGCTGCTATGTGGGGCATAAGAGTTGGTCACGGGTGACAGGACGGAGGACCACGGGCCAGGGTGTTTCCCAACACAGTCTGGTCTGAGCGGGAGGCCAGGCCTCTGGCCTGTGTTTCTGAGCTTGAGTTGCAGGTGATAATGTTGGCACAAAAGACCTGCCATGCCAGTCTGGCCTCTTTCTCCACCTGTTTCCCGGTGAAGGAGCCAGGACCTGGCCTGCGAGTCTGTCCTGTTCTAGCAGTGAAGCCTGGTTTGCCAGGCACGGGGCTGGGAAGCAAGCAGTCTGGGTCTGGAGGGTGGCCCCAAAAAGGCCAACTCTGCAGCTCCACAGCCACATGGGGGAGGCTGCCACAGGTCACACTCCTTAGCCGGATCCCCTCCTGAAGAAAAGCATCTGAGCTGACCAGCGAGACTGCAGTGGGGCAGACACTATTAAATTTGCTGGCACAGCTCTGAGTACCCCCTCGCTTCCACCCTGACTTCATCCCGCAGTAGCTCTCAGCCCTCCCAGCCCCTGCAGGGCCACGTCTTTCTCTATTGCCGGTCAGCGTGTGTGTGCACAAAGCCCCTAAGGTTTCATGTGTACACACCGGTGCTAAGTGTTTTTTACACCCTTGTGCATCTCTCGGCCTGGGGCTCCTGTGCAGGTTGCCCTGAGAGTTGGGTTTTTAGTTCAAAAAGAAGGAACACAGATGACTACTCTGCTGGCGACACGGCCACTCTGCTGGCACGCACATAGCATGGCGCCTCCTTTTTTGGGGGACTCTCCTTGGTGGCATCTCTGGCAGGCTGTGTCCTCTCCAGCTGCAGTTCTGGACCCTGTCTGGGTTGGGGAGGGGCATTTGGTCCTCAGGCTGAGCCCACCTGGATTCCCCAGGCCCTTGGTGAGCGCCACTCTGGCTGCAACTCCCCTTGCCTGGCCCGTCCTGAGGCCCCTCTCTCGTCCTCAGTGGTGGTTCTGGCGGGGCTGTTCGTGATGGTGTTGATCCTCTTCCTGGGAGCCTCCATGGTCTACCTGATCCGGGTGGCACGGAGGAACCAGGAGCGTGCCCTGCGCACCGTCTGGAGCTCCGGAGATGACAAGGAGCAGCTGGTGAAGAACACATATGTCCTGTGACCGCCCTGTCGCCAAGAGGACTGGGGAAGGGAGGGGAGACTATGTGTGAGCTTTTTTTAAATAGAGGGATTGACTCGGATTTGAGTGATCATTAGGGCTGAGGTCTGTTTCTCTGGGAGGTAGGACGGCTGCTTCCTGGTCTGGCAGGGATGGGTTTGCTTTGGAAATCCTCTAGGAGGCTCCTCCTCGCATGGCCTGCAGTCTGGCAGCAGCCCCGAGTTGTTTCCTCGCTGATCGATTTCTTTCCTCCAGGTAGAGTTTTCTTTGCTT 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Task1_train_27068 | Gene YIF1B (Yip1 interacting factor homolog B, membrane trafficking protein) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Kaya-Barakat-Masson syndrome | CTCTAGCAGCCTGGCTGGTGTCTCCTCTTCCAGGGCTCAGGATACCCCCTCTTCCAGGAAGCCCTCCTGACCCCCCAGGCCGGGCAGCCACTCCAGGGCTCCTCAGTTCAGCAATGTGTCTCTGGTCTGAACCCCACACCTGACATCCTCTGCTTGGATGCCTGGATGCCTCCGGGGCACCTGTGCCTCAGCCTCACCAGCCCCGAGCCCAGCTCACCATGAACACAAAGATGGCTACGCAGCACCAGCCCAGCACCAGGTAGTAGCCAATCTTCCCGAAGAGCAGGCCCATGAGGACCCCGCCAATCATCCTGGGGGAGGGAGAGGAGGCTGTGTGAGGACAAGGCCCAAGGGCTGGGGCTGGCGTGAAGGGCGGGGGTACTCACCCGACATATTTGTAGCCCAAGAAGGCCACCAGGTCGATGGTGGTGAGGTCGGTGTTGACAGTGACCAGATAGAGGCTGAGCAGGATGGCCAGCACCTCCAGGGTCAGCCAGGCCAGGGCTGAGCTCGCTTGCAGCCCCAGGAGGTCTGGGGAGAACCTGCAGGCACAAAGCCCCGCCACTTGGTTGGCTGGTTCAGACCCCCCACCCCCAGCACCCATCTGGGGACAGCTCTGTGTTGGGTAGGGCTGGACACCTGGCAGTGACCAAGATGGATGTGCGCGCTATCCTATTCCCACGGAAATCCCATCCAGAGAGGATGGCAGACCCATCCCTAGACAGTGACACCCAGAGCAGGCAGGGCTGGAGTCACAGGGGGCTGTGCTGACAGTCAGGAGACAGGTGTCAGAGAGGGCTTCCCAGGAGAGGGGACACCGAGCTGAAGCCTGCAGGAAGGAGCTGGTCAGGGACAAAGCCCTTGGCCTCTGCCACATCCCCAGGGCCTCACCAGTTAGTTAATGACAGATGTGTTCAGTGCCATAAAGGAAAAGAACAGGGCGATGTGAGCAAGAGGAGGGGCCTGATCTAGCCTGGGGGGCAGGAAGGCTTCCCGGAGGAGGTGATACTGGAATGGAGCCAGCAGGGATGTGCAGGTACTCGGCAGTAGTGGAGGGGAACACGCTCCTGGGCAGAGGGGAGTTGATGTGACAAGGCCCCAGGAGACAGTGCCAGCCCTCCCAAGGAAAGGAATAGACCGGAGCGTGCAGCGGGAGGGGCAGTGCCAGGCTGAGGAGCTGGGGCTTGATTGGGAGCCATGGATAGCAGGGCGGGGCAGGGTGGGCCAGGCCCGCACCTCAGACAGGACCATCCTGGCTGCTGCTGGAGTAGGGGTGCAGTGGGGAGCTGGTGATGACAGAGGGAGGATGAGGATGGGTCTGGTAGTAGAGGCCAAGAGGAAGGGTGGATGGAGAAGGGTCACCCAGCACAGGGGATGGTGACGCAATGCATGTGGGTAGGAAGGACAGGGAAGAGGCGAGGGTGATGCTGACAGTGACCCTGAGGGCTGTATCTTGGGCCAACTGGGAGCAAAGTGGGGCTGTCCTGAAAGGGGAACTGAGACCTTGGAACTGAGACCTTCCTGACCAACCATGGGCCTCCCAAACCCCACCTTATTCGGCCTGCCCCAGGCCTCCCTTACCTATCCTGGGTCCCCAGCGCAAGACCAGCCACCAAAACGTAGGTGATGAAAGCCATTGCTGTGGGAGACAGACACACAGACACTGGTCACCAGAGGAAGAACTGCCCTGGGCCTCCAGGCACCCACACACCCGCTCCATATAGGCCCGGAAGAGAGAGGAGGGTGCAGGGTAGGGGGAGGGTGAAACCTGGAATGTAGAGGTCCGGGGCATTGACGTCAAAGCGGGGGGCCACCGGGGTGTCCTGTTGGTACTGCACTTCCCAGTCCTGCGGGGATGGGGAGACGGGCAGGACCCTCAGAGCCAGGCCCCTCCCACCCTGCTACAGGCCCTCCTCCCTCGAGGCGAATCTCCCGGCTCCACCATGCACCTGCCCCCACCCCTGAGCCCCCCACAGGCCCACTGCAGACCCACATTCCCCTGGGGGTGCTGACCTGGTGTAGGTAGGGGAAGAACAGCAGGCCCAGCTTTCTGCCCACATACATGGTGTCCACAGCAAAGTAATACTTGAGCTTGGTGATGGGGATGAAGCGGTCGATCTGGGGAGGCAGAGCTCAAGTCTGAAGCCCTGTGGCCCCGTGCATCCCCCCACTCCCACCAGCCCCGCCCACTCACGTTCTTATCCACCAGCTCCTTGCCCTGCGCGGCCAGGCTGCTCCCATAGGCCATGGCCATGTTGGACACCGGGTCAGCCAGGAAGGCTGCATGGGGCGTGGGAGAGGCTGCAGGATAACTCAGGCCACCAGGTGCCCGCTGGGCCCCATAGCCCCGGCTCTGGGCTGAACTTGTGTCATCGAAAAGCTGGTGGGGGTCGGCCATGCCCGGCTGGGACACAGGGATCCTCCGCTTCGAGGCTGCAAGGGAAGAGAGTGAGAAGGAGCTGGGGACCCAGGATAGGTAAGGGAGACCTGGCGAACCTCATTCATCCCACAGCTCTGCCTCCTGCTGCAGAGGAGGGTGGTGTCACCATTAGAGACACTGGCTTTGATGTCAGATGGACTGGCAGGTGCAAGCTCTGCCATTCATCCACCAACCCACCCATCTAGCCAACTATCCATCCACTGATACATTCATCTATGCATCCATTCATCTACCCACCCATCCATCCACCTATCCATCTACCCACCCTCCCACTCACCCACCCATCCATCCATCTATCCATCTAACCATCCATCCATCCATCCATTCATCCATCCATCCATCCAGCCATCCATCCACCCACCCATCTAGCCAACTATCCATCCACTGATGCATTCATCTGTCCATCCATTCATCCATCCACCCATCCATCCATCCACCCTCCCACCCATCAATCCATCCATTCATCCATCCACCCACCCATCTATCCATCTATCCATCTACCCACCCACCCATCAATCCATCCATTCATCCATCCACCCATCCATCCATCCATCCATCCACCTATCCAACCATCCATCCATCCACCACCCATCTAGCCAACTATCCATCTAATGATGCATCCACCCACCCACCCACCCATCCATCCATCCACCTACCCATTCATCCATCCACCCACCCACCCATCCATCCACCCATCCACCCACCTATCTAGCCAACTATCCATCCACTGATGCATTTATCTTTCCATCTATCCATCCATCCATCCACTCACCAAGCTATCTATCCATCCACCAACTCATTCATCTATCCACCCATCTATCATCCATCCATCCATCATCATCCATCCATCTAACCATCCATTCACCCACCCACCCATCCACTTATCATCCATCCATCCAGATATCAATGATGATGATTATCTCAAAAGCTACTATGTGCGAGAGGAAGGGGGGGCTATTGGGCACAAAATCCTGTACCAAGCCTTTTACACAAGGCCGCTGTCCATATCTCCTATGCTCCCCCTCAATGACTTGGCTCCAGCCACCTGCGCCTCCCAATGCTCACTGAATGCACCAGGAAGGTGCCTGCCTCAAGGCCGCTGCACCAGCTGTGCCTCTGCTTGGAACGCTCTTCCCCCAACATCCTCAGAGCTCCCTCCTCTCCTCCTCAAGGGCTTTGTTCAGTGAGGCCTTCCCCAGCCATCCTGTCTACAACCGTACCTCCCTTGGTGGCACTCCCCACCCCCTGCCCTGCTTCACTGATATCCATAGAACTCGGCACTAGCTGACATGCTGGCTGTCTTATTTTGTTCACTGTCTCCCCCACTCAACTGTGAGTCCCCCAAGGTGGGGATCTTGATCTCGTTCACAGCTGAGTCCCCAGCCCCTTGCACAGGGTTAGAGTAGGCACTTGATAAAAACCTGATCAATGAATAAAGGCAGCCTGGGCAACATGGCGAGACCCCATCTCTACAAAATATAGAAAGATTAGCTAGGTGTGGTGGTTCACGCCTATGGTCCCAGCTACTCGGGAGGCCAAGGTGGGAGGATCGCTTCAGCCTGGGAGACAAAGGTTGCAGTGAGCCGAGACTGCACCACTGCACTCCAGCCTGGGCAACACAGTGAGACCCTGTCTCAAAAAAAAAAAACAAAAAAC | CTCTAGCAGCCTGGCTGGTGTCTCCTCTTCCAGGGCTCAGGATACCCCCTCTTCCAGGAAGCCCTCCTGACCCCCCAGGCCGGGCAGCCACTCCAGGGCTCCTCAGTTCAGCAATGTGTCTCTGGTCTGAACCCCACACCTGACATCCTCTGCTTGGATGCCTGGATGCCTCCGGGGCACCTGTGCCTCAGCCTCACCAGCCCCGAGCCCAGCTCACCATGAACACAAAGATGGCTACGCAGCACCAGCCCAGCACCAGGTAGTAGCCAATCTTCCCGAAGAGCAGGCCCATGAGGACCCCGCCAATCATCCTGGGGGAGGGAGAGGAGGCTGTGTGAGGACAAGGCCCAAGGGCTGGGGCTGGCGTGAAGGGCGGGGGTACTCACCCGACATATTTGTAGCCCAAGAAGGCCACCAGGTCGATGGTGGTGAGGTCGGTGTTGACAGTGACCAGATAGAGGCTGAGCAGGATGGCCAGCACCTCCAGGGTCAGCCAGGCCAGGGCTGAGCTCGCTTGCAGCCCCAGGAGGTCTGGGGAGAACCTGCAGGCACAAAGCCCCGCCACTTGGTTGGCTGGTTCAGACCCCCCACCCCCAGCACCCATCTGGGGACAGCTCTGTGTTGGGTAGGGCTGGACACCTGGCAGTGACCAAGATGGATGTGCGCGCTATCCTATTCCCACGGAAATCCCATCCAGAGAGGATGGCAGACCCATCCCTAGACAGTGACACCCAGAGCAGGCAGGGCTGGAGTCACAGGGGGCTGTGCTGACAGTCAGGAGACAGGTGTCAGAGAGGGCTTCCCAGGAGAGGGGACACCGAGCTGAAGCCTGCAGGAAGGAGCTGGTCAGGGACAAAGCCCTTGGCCTCTGCCACATCCCCAGGGCCTCACCAGTTAGTTAATGACAGATGTGTTCAGTGCCATAAAGGAAAAGAACAGGGCGATGTGAGCAAGAGGAGGGGCCTGATCTAGCCTGGGGGGCAGGAAGGCTTCCCGGAGGAGGTGATACTGGAATGGAGCCAGCAGGGATGTGCAGGTACTCGGCAGTAGTGGAGGGGAACACGCTCCTGGGCAGAGGGGAGTTGATGTGACAAGGCCCCAGGAGACAGTGCCAGCCCTCCCAAGGAAAGGAATAGACCGGAGCGTGCAGCGGGAGGGGCAGTGCCAGGCTGAGGAGCTGGGGCTTGATTGGGAGCCATGGATAGCAGGGCGGGGCAGGGTGGGCCAGGCCCGCACCTCAGACAGGACCATCCTGGCTGCTGCTGGAGTAGGGGTGCAGTGGGGAGCTGGTGATGACAGAGGGAGGATGAGGATGGGTCTGGTAGTAGAGGCCAAGAGGAAGGGTGGATGGAGAAGGGTCACCCAGCACAGGGGATGGTGACGCAATGCATGTGGGTAGGAAGGACAGGGAAGAGGCGAGGGTGATGCTGACAGTGACCCTGAGGGCTGTATCTTGGGCCAACTGGGAGCAAAGTGGGGCTGTCCTGAAAGGGGAACTGAGACCTTGGAACTGAGACCTTCCTGACCAACCATGGGCCTCCCAAACCCCACCTTATTCGGCCTGCCCCAGGCCTCCCTTACCTATCCTGGGTCCCCAGCGCAAGACCAGCCACCAAAACGTAGGTGATGAAAGCCATTGCTGTGGGAGACAGACACACAGACACTGGTCACCAGAGGAAGAACTGCCCTGGGCCTCCAGGCACCCACACACCCGCTCCATATAGGCCCGGAAGAGAGAGGAGGGTGCAGGGTAGGGGGAGGGTGAAACCTGGAATGTAGAGGTCCGGGGCATTGACGTCAAAGCGGGGGGCCACCGGGGTGTCCTGTTGGTACTGCACTTCCCAGTCCTGCGGGGATGGGGAGACGGGCAGGACCCTCAGAGCCAGGCCCCTCCCACCCTGCTACAGGCCCTCCTCCCTCGAGGCGAATCTCCCGGCTCCACCATGCACCTGCCCCCACCCCTGAGCCCCCCACAGGCCCACTGCAGACCCACATTCCCCTGGGGGTGCTGACCTGGTGTAGGTAGGGGAAGAACAGCAGGCCCAGCTGTCTGCCCACATACATGGTGTCCACAGCAAAGTAATACTTGAGCTTGGTGATGGGGATGAAGCGGTCGATCTGGGGAGGCAGAGCTCAAGTCTGAAGCCCTGTGGCCCCGTGCATCCCCCCACTCCCACCAGCCCCGCCCACTCACGTTCTTATCCACCAGCTCCTTGCCCTGCGCGGCCAGGCTGCTCCCATAGGCCATGGCCATGTTGGACACCGGGTCAGCCAGGAAGGCTGCATGGGGCGTGGGAGAGGCTGCAGGATAACTCAGGCCACCAGGTGCCCGCTGGGCCCCATAGCCCCGGCTCTGGGCTGAACTTGTGTCATCGAAAAGCTGGTGGGGGTCGGCCATGCCCGGCTGGGACACAGGGATCCTCCGCTTCGAGGCTGCAAGGGAAGAGAGTGAGAAGGAGCTGGGGACCCAGGATAGGTAAGGGAGACCTGGCGAACCTCATTCATCCCACAGCTCTGCCTCCTGCTGCAGAGGAGGGTGGTGTCACCATTAGAGACACTGGCTTTGATGTCAGATGGACTGGCAGGTGCAAGCTCTGCCATTCATCCACCAACCCACCCATCTAGCCAACTATCCATCCACTGATACATTCATCTATGCATCCATTCATCTACCCACCCATCCATCCACCTATCCATCTACCCACCCTCCCACTCACCCACCCATCCATCCATCTATCCATCTAACCATCCATCCATCCATCCATTCATCCATCCATCCATCCAGCCATCCATCCACCCACCCATCTAGCCAACTATCCATCCACTGATGCATTCATCTGTCCATCCATTCATCCATCCACCCATCCATCCATCCACCCTCCCACCCATCAATCCATCCATTCATCCATCCACCCACCCATCTATCCATCTATCCATCTACCCACCCACCCATCAATCCATCCATTCATCCATCCACCCATCCATCCATCCATCCATCCACCTATCCAACCATCCATCCATCCACCACCCATCTAGCCAACTATCCATCTAATGATGCATCCACCCACCCACCCACCCATCCATCCATCCACCTACCCATTCATCCATCCACCCACCCACCCATCCATCCACCCATCCACCCACCTATCTAGCCAACTATCCATCCACTGATGCATTTATCTTTCCATCTATCCATCCATCCATCCACTCACCAAGCTATCTATCCATCCACCAACTCATTCATCTATCCACCCATCTATCATCCATCCATCCATCATCATCCATCCATCTAACCATCCATTCACCCACCCACCCATCCACTTATCATCCATCCATCCAGATATCAATGATGATGATTATCTCAAAAGCTACTATGTGCGAGAGGAAGGGGGGGCTATTGGGCACAAAATCCTGTACCAAGCCTTTTACACAAGGCCGCTGTCCATATCTCCTATGCTCCCCCTCAATGACTTGGCTCCAGCCACCTGCGCCTCCCAATGCTCACTGAATGCACCAGGAAGGTGCCTGCCTCAAGGCCGCTGCACCAGCTGTGCCTCTGCTTGGAACGCTCTTCCCCCAACATCCTCAGAGCTCCCTCCTCTCCTCCTCAAGGGCTTTGTTCAGTGAGGCCTTCCCCAGCCATCCTGTCTACAACCGTACCTCCCTTGGTGGCACTCCCCACCCCCTGCCCTGCTTCACTGATATCCATAGAACTCGGCACTAGCTGACATGCTGGCTGTCTTATTTTGTTCACTGTCTCCCCCACTCAACTGTGAGTCCCCCAAGGTGGGGATCTTGATCTCGTTCACAGCTGAGTCCCCAGCCCCTTGCACAGGGTTAGAGTAGGCACTTGATAAAAACCTGATCAATGAATAAAGGCAGCCTGGGCAACATGGCGAGACCCCATCTCTACAAAATATAGAAAGATTAGCTAGGTGTGGTGGTTCACGCCTATGGTCCCAGCTACTCGGGAGGCCAAGGTGGGAGGATCGCTTCAGCCTGGGAGACAAAGGTTGCAGTGAGCCGAGACTGCACCACTGCACTCCAGCCTGGGCAACACAGTGAGACCCTGTCTCAAAAAAAAAAAACAAAAAAC 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Task1_train_27069 | This variant affects gene RYR1 (ryanodine receptor 1) located on Chromosome 19. Evaluate its biological effect and specify any disease association. | Pathogenic; Malignant hyperthermia, susceptibility to, 1 | GGGCAGGGCCTTCCTGTGGGGTGGGGGTGGGGTCTGGCGTCTCAAGAGTGTGGGCATCCAGACTAGGGGAGGGAGTGTGGCAGGGAATGTTGCTGGGGTGGGGGGGTCTTCTGACCCCTCACTTACATCCCCCTCCCACCCCAGAATGTGCCCCCCGATCTGGCCATCTGTTGCTTCGTCCTGGAGCAGTCCCTGTCTGTGCGAGCCCTGCAGGAGATGCTGGCTAACACGGTGGAGGCTGGCGTGGAGGTGAGGACCCCACCTGGGGGTGGGCGGGGTGGCAGAGATGGGCGAGAGGACCCAGGGGTCGTTTAGGGCACGGTGGCAAGGATGGGTGAGAGGACCCGGGGGTCGCTTACCATCTGCTCTTCTTCCTCTCTCTGCCCTGCCCCCCACAGGCCCTCAATTTGGATAAGTGGGTAGGTCCGGCCTTGGATGTCACCTGTCCTTCCACCCCTCCTGACCCCAGGCAGGCCCGTCTCTCAGGCCCACGCCCTGCACACAGGGGCTGGAGGGTCCTCCCCCACCCCAGTTGTCAGGGGCTGTGGAGCCCAGAACAGGCCAGGCAGGAAGGAAGGAAGGGGATGGGGGCTTCTGAGCCCCTGTCCCCGACGCCTGCTCCTTTCTCCTCTTTCCAGTCCTTTCCCCCAACCCTGATCCCAGCTCCTCTCCGCATGGGACCTCTCCCACCTCCCCCATCCCAAGCGTGAGTCCCTCTGGTCCAGGAGTGGGTCCACCATGTGATCACCTGGCCCCATCACATGGTACCCCCATGGCGCCCTTGGAGCATGGGCATGTGACAGCCATGATGGGAGGCATGGTGACATCGAGCAGTCAGATGTCTGCCCCAAGGTCCGGGTTGGGGACCTTGTGCTGGGGAGGGGCGGCTGTCTTAGACTGCGGGTGACATTCACCTATGGAACAACTGCTAGGCCTGTCCCAGAGCACACGGGCTGCAGCGCAGCATGATGGGGGAGGTCAGAGCAGAGGGGCCAGAGTACACGGAACACGAGATCTTGGGGGTGTCCTCAGGGTCCCCAGGAAACTAGAAGACGGGTTCATTCTCCTGAGTGATTTCCAGCCAAGGTGAAGGCAGCAGAGAGGACAGAGTGGGCTTTGGGGAATATAAAATGCTCCATCCATAGGCATCTCAGAGATATAGTCCCTGCTTCCGTGAATGGGGAAACTGAGGCAGAGAGTCCTGCAGGAGTCTGAGCTGAGGCTGTTTTACCTCTAGGCCTGAGCATGGTATTTTACAGGGAGCATCTTGTCACCTGTGACTAGGCCAGACCTCTTGGGGATCTGGAGAGTCCGGGGATCTGTGCTTATTCTGTTCCCTCCCTCCCCCTGCAGTCATCCCAGGGCGGGGGACACAGGACGCTCCTGTATGGCCATGCCATCCTGCTCCGGCATGCACACAGCCGCATGGTGAGTGCAACCTCGGTGGGCGTGGGCAGGGGCCAGGGCATGTGGGGCCTGCTAGAAGGAGGCTGACCTCCCTCTACAACCCTAGTATCTGAGCTGCCTCACCACCTCCCGCTCCATGACTGACAAGCTGGCCTTCGATGTGGGACTGCAGGAGGACGCAACAGGTGCAGCAGCTGGAGGGGATGGGGGTGTGAAGGGGCCCCGCAGCAGGGATTCAGGGGGTAGAAGGTCTGCAGAACGCCAAGGCAAGCATGAGACTACCCTGGGGACATGAATGGGGGCTTCGTAGCAGAGAGTCTGCGGTACAGTCCAGACAGGGAGACAGACACACGTTGGGGACCACTAGGCAGAGAGTCTGAAGTCAGGAACGGGGAACTGTTAGGCAGAGAGTTGGTGGCAGTGATAGGAGAGTTGTGGGCCAAGGGCCCGGGAGGCCTGGTGGAGGGAGAGCCCTGGGGAAGAGCATTCTGGGAAGCCATCATCTGACAGCCACCCCCATTCCATCCCCACCCATAGGAGAGGCTTGCTGGTGGACCATGCACCCAGCCTCCAAGCAGAGGTCTGAAGGAGAAAAGGTCCGCGTTGGGGATGACATCATCCTTGTCAGTGTCTCCTCCGAGCGCTACCTGGTGAGCCATTGCGGTTCCTCCTGCTCCCAGGTCTGGGGGCGCATGGGATGGTCCCCATCTTCTCACCATGGGTTTGCCTGGCTGATCTCCCACCCCCAAGGTCCTGACTCCCAATTTCCCATTTCCTGACCCCTGACATCCAATTTTCTGATTTCTGACCTCCCATTGCCCGACTTGATCATTTCCTGATCTGTGATCTCTGATGACTCTGTCTCCCATCTGCCGGTTTCCGGGTATCCACCCTTGATTTCTGGCCTCTGACGCTGGGACTCTCGCCCACCCCTGCAATCGTCTCTGACTGCCGCATCCTGGTGGCCCCCAGCACCTGTCGACCGCCAGTGGGGAGCTCCAGGTTGACGCTTCCTTCATGCAGACACTATGGAACATGAACCCCATCTGCTCCCGCTGCGAAGAGGGTGAGGGCCCCAGACCTCCCCCTAAATGGAGATCCCCCCAAAACAGACCCTTAATGTTGCCCTTCAGGCATACCCAAATGGAGCCTTGGAACCTCAGACCTCAAACCTAGATCTCCAAATTATGGCTCTCACACTTAGATCTCCAGCTGACCCCAAATCCAGACCCCCAGAGCTCAGAACCCCCCCAAACCCCGAACTAAATATCAGGCTCCCAAACTTAGACCCCAAAGTATTAGCCCCCAAGGCTCCTAAACTCAGATTCAAATCTTAAAACATCAAGTTTAAAGCTTGTTTAAAGGCCGGGCATGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTTTATTAAAAATGCAAAATTATCTGAGTGTGGTGGCATGTGCCTGTAATCCCACCTACTCAGGAGGGTGAGGCAGGAGAATTGCTTGAACCTGGGTGGCAGAGGAGCCTGGGTGACAGAGCCAGACTCTGCCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATTAAACTCCTTAGACAATAAGCATAGACTATGATCTCAGCCCCTCAAACCCAGACCCCCAAATTCAAACCTCAGATCCCCAAACCAAGACTCCAATCTTCAGCCCTCCAACCTCAGACTTCCAAACTTCAATTTCAAATCCCAAAAACCAAAATCCACCAAAGCAAACTCCCAATTCAGATTCCCATGCTAAGACTCCAGGCATGGCCCAATACTTTGACCCCAAGTCTCATACCCCAAACTTCAGAGTCCTAAACCAGACCCACGCTGGGACTCAAACCACAGATGGTTTTTGACCCTCAAACTCAGACCCTGAAACTCAGACTCATCAACTTCTAACTACAAAGCTCAGATCGTTCCTACGTCATACCCCAAAGCTCAGACTTCCAAACCCTAGATTGTAACCTCAGATCCCCAACCTCACTTTCCAGCTTCTGGCCTCCAAAATCAATACTCAAGGCCAAGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGAGGGGCCAAGGCGGGTGGATCACTTGAGATCAGGAGTTCGAGACCAGCCTGGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTGGCTGGGCATGATGGCGGGCGGCTGTAGCCCCAGCTACTTGGGAGGCTGAGGCAGTATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTGCAGCCTGGGCAACAGAGCAAAACTCTGTCTTAAAAACAAAACTAAACAAAACGAAACAAAAAAACCCTCAAAATTCAGGCCCTAACTCCAGAACCCAGCCTCAGACCCAACCATCACCCTTCTAAACCCAGAGGCCAAACCTCAACCCTAGAACTCAGACTCCAACACCAGTGAACATTAGACCTCCACCTTTCACCACACACACACTCTGACCCCAACCTCAAAAGTCCAAACTCAGAACCTTAAATGACAGACTCACAACTCCCCCAGCCTCAGCTCTGCAGACCCAGACCCCCCAAATTAGGTGCCCAGCTTCAGACCCCAAGTCTCATATCCCCACTTCAG | GGGCAGGGCCTTCCTGTGGGGTGGGGGTGGGGTCTGGCGTCTCAAGAGTGTGGGCATCCAGACTAGGGGAGGGAGTGTGGCAGGGAATGTTGCTGGGGTGGGGGGGTCTTCTGACCCCTCACTTACATCCCCCTCCCACCCCAGAATGTGCCCCCCGATCTGGCCATCTGTTGCTTCGTCCTGGAGCAGTCCCTGTCTGTGCGAGCCCTGCAGGAGATGCTGGCTAACACGGTGGAGGCTGGCGTGGAGGTGAGGACCCCACCTGGGGGTGGGCGGGGTGGCAGAGATGGGCGAGAGGACCCAGGGGTCGTTTAGGGCACGGTGGCAAGGATGGGTGAGAGGACCCGGGGGTCGCTTACCATCTGCTCTTCTTCCTCTCTCTGCCCTGCCCCCCACAGGCCCTCAATTTGGATAAGTGGGTAGGTCCGGCCTTGGATGTCACCTGTCCTTCCACCCCTCCTGACCCCAGGCAGGCCCGTCTCTCAGGCCCACGCCCTGCACACAGGGGCTGGAGGGTCCTCCCCCACCCCAGTTGTCAGGGGCTGTGGAGCCCAGAACAGGCCAGGCAGGAAGGAAGGAAGGGGATGGGGGCTTCTGAGCCCCTGTCCCCGACGCCTGCTCCTTTCTCCTCTTTCCAGTCCTTTCCCCCAACCCTGATCCCAGCTCCTCTCCGCATGGGACCTCTCCCACCTCCCCCATCCCAAGCGTGAGTCCCTCTGGTCCAGGAGTGGGTCCACCATGTGATCACCTGGCCCCATCACATGGTACCCCCATGGCGCCCTTGGAGCATGGGCATGTGACAGCCATGATGGGAGGCATGGTGACATCGAGCAGTCAGATGTCTGCCCCAAGGTCCGGGTTGGGGACCTTGTGCTGGGGAGGGGCGGCTGTCTTAGACTGCGGGTGACATTCACCTATGGAACAACTGCTAGGCCTGTCCCAGAGCACACGGGCTGCAGCGCAGCATGATGGGGGAGGTCAGAGCAGAGGGGCCAGAGTACACGGAACACGAGATCTTGGGGGTGTCCTCAGGGTCCCCAGGAAACTAGAAGACGGGTTCATTCTCCTGAGTGATTTCCAGCCAAGGTGAAGGCAGCAGAGAGGACAGAGTGGGCTTTGGGGAATATAAAATGCTCCATCCATAGGCATCTCAGAGATATAGTCCCTGCTTCCGTGAATGGGGAAACTGAGGCAGAGAGTCCTGCAGGAGTCTGAGCTGAGGCTGTTTTACCTCTAGGCCTGAGCATGGTATTTTACAGGGAGCATCTTGTCACCTGTGACTAGGCCAGACCTCTTGGGGATCTGGAGAGTCCGGGGATCTGTGCTTATTCTGTTCCCTCCCTCCCCCTGCAGTCATCCCAGGGCGGGGGACACAGGACGCTCCTGTATGGCCATGCCATCCTGCTCCGGCATGCACACAGCCGCATGGTGAGTGCAACCTCGGTGGGCGTGGGCAGGGGCCAGGGCATGTGGGGCCTGCTAGAAGGAGGCTGACCTCCCTCTACAACCCTAGTATCTGAGCTGCCTCACCACCTCCCGCTCCATGACTGACAAGCTGGCCTTCGATGTGGGACTGCAGGAGGACGCAACAGGTGCAGCAGCTGGAGGGGATGGGGGTGTGAAGGGGCCCCGCAGCAGGGATTCAGGGGGTAGAAGGTCTGCAGAACGCCAAGGCAAGCATGAGACTACCCTGGGGACATGAATGGGGGCTTCGTAGCAGAGAGTCTGCGGTACAGTCCAGACAGGGAGACAGACACACGTTGGGGACCACTAGGCAGAGAGTCTGAAGTCAGGAACGGGGAACTGTTAGGCAGAGAGTTGGTGGCAGTGATAGGAGAGTTGTGGGCCAAGGGCCCGGGAGGCCTGGTGGAGGGAGAGCCCTGGGGAAGAGCATTCTGGGAAGCCATCATCTGACAGCCACCCCCATTCCATCCCCACCCATAGGAGAGGCTTGCTGGTGGACCATGCACCCAGCCTCCAAGCAGAGGTCTGAAGGAGAAAAGGTCCGCGTTGGGGATGACATCATCCTTGTCAGTGTCTCCTCCGAGTGCTACCTGGTGAGCCATTGCGGTTCCTCCTGCTCCCAGGTCTGGGGGCGCATGGGATGGTCCCCATCTTCTCACCATGGGTTTGCCTGGCTGATCTCCCACCCCCAAGGTCCTGACTCCCAATTTCCCATTTCCTGACCCCTGACATCCAATTTTCTGATTTCTGACCTCCCATTGCCCGACTTGATCATTTCCTGATCTGTGATCTCTGATGACTCTGTCTCCCATCTGCCGGTTTCCGGGTATCCACCCTTGATTTCTGGCCTCTGACGCTGGGACTCTCGCCCACCCCTGCAATCGTCTCTGACTGCCGCATCCTGGTGGCCCCCAGCACCTGTCGACCGCCAGTGGGGAGCTCCAGGTTGACGCTTCCTTCATGCAGACACTATGGAACATGAACCCCATCTGCTCCCGCTGCGAAGAGGGTGAGGGCCCCAGACCTCCCCCTAAATGGAGATCCCCCCAAAACAGACCCTTAATGTTGCCCTTCAGGCATACCCAAATGGAGCCTTGGAACCTCAGACCTCAAACCTAGATCTCCAAATTATGGCTCTCACACTTAGATCTCCAGCTGACCCCAAATCCAGACCCCCAGAGCTCAGAACCCCCCCAAACCCCGAACTAAATATCAGGCTCCCAAACTTAGACCCCAAAGTATTAGCCCCCAAGGCTCCTAAACTCAGATTCAAATCTTAAAACATCAAGTTTAAAGCTTGTTTAAAGGCCGGGCATGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTTTATTAAAAATGCAAAATTATCTGAGTGTGGTGGCATGTGCCTGTAATCCCACCTACTCAGGAGGGTGAGGCAGGAGAATTGCTTGAACCTGGGTGGCAGAGGAGCCTGGGTGACAGAGCCAGACTCTGCCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATTAAACTCCTTAGACAATAAGCATAGACTATGATCTCAGCCCCTCAAACCCAGACCCCCAAATTCAAACCTCAGATCCCCAAACCAAGACTCCAATCTTCAGCCCTCCAACCTCAGACTTCCAAACTTCAATTTCAAATCCCAAAAACCAAAATCCACCAAAGCAAACTCCCAATTCAGATTCCCATGCTAAGACTCCAGGCATGGCCCAATACTTTGACCCCAAGTCTCATACCCCAAACTTCAGAGTCCTAAACCAGACCCACGCTGGGACTCAAACCACAGATGGTTTTTGACCCTCAAACTCAGACCCTGAAACTCAGACTCATCAACTTCTAACTACAAAGCTCAGATCGTTCCTACGTCATACCCCAAAGCTCAGACTTCCAAACCCTAGATTGTAACCTCAGATCCCCAACCTCACTTTCCAGCTTCTGGCCTCCAAAATCAATACTCAAGGCCAAGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGAGGGGCCAAGGCGGGTGGATCACTTGAGATCAGGAGTTCGAGACCAGCCTGGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTGGCTGGGCATGATGGCGGGCGGCTGTAGCCCCAGCTACTTGGGAGGCTGAGGCAGTATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTGCAGCCTGGGCAACAGAGCAAAACTCTGTCTTAAAAACAAAACTAAACAAAACGAAACAAAAAAACCCTCAAAATTCAGGCCCTAACTCCAGAACCCAGCCTCAGACCCAACCATCACCCTTCTAAACCCAGAGGCCAAACCTCAACCCTAGAACTCAGACTCCAACACCAGTGAACATTAGACCTCCACCTTTCACCACACACACACTCTGACCCCAACCTCAAAAGTCCAAACTCAGAACCTTAAATGACAGACTCACAACTCCCCCAGCCTCAGCTCTGCAGACCCAGACCCCCCAAATTAGGTGCCCAGCTTCAGACCCCAAGTCTCATATCCCCACTTCAG 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Task1_train_27070 | This variant affects gene RYR1 (ryanodine receptor 1) located on Chromosome 19. Evaluate its biological effect and specify any disease association. | Pathogenic; Malignant hyperthermia, susceptibility to, 1 | TTGATCATTTCCTGATCTGTGATCTCTGATGACTCTGTCTCCCATCTGCCGGTTTCCGGGTATCCACCCTTGATTTCTGGCCTCTGACGCTGGGACTCTCGCCCACCCCTGCAATCGTCTCTGACTGCCGCATCCTGGTGGCCCCCAGCACCTGTCGACCGCCAGTGGGGAGCTCCAGGTTGACGCTTCCTTCATGCAGACACTATGGAACATGAACCCCATCTGCTCCCGCTGCGAAGAGGGTGAGGGCCCCAGACCTCCCCCTAAATGGAGATCCCCCCAAAACAGACCCTTAATGTTGCCCTTCAGGCATACCCAAATGGAGCCTTGGAACCTCAGACCTCAAACCTAGATCTCCAAATTATGGCTCTCACACTTAGATCTCCAGCTGACCCCAAATCCAGACCCCCAGAGCTCAGAACCCCCCCAAACCCCGAACTAAATATCAGGCTCCCAAACTTAGACCCCAAAGTATTAGCCCCCAAGGCTCCTAAACTCAGATTCAAATCTTAAAACATCAAGTTTAAAGCTTGTTTAAAGGCCGGGCATGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTTTATTAAAAATGCAAAATTATCTGAGTGTGGTGGCATGTGCCTGTAATCCCACCTACTCAGGAGGGTGAGGCAGGAGAATTGCTTGAACCTGGGTGGCAGAGGAGCCTGGGTGACAGAGCCAGACTCTGCCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATTAAACTCCTTAGACAATAAGCATAGACTATGATCTCAGCCCCTCAAACCCAGACCCCCAAATTCAAACCTCAGATCCCCAAACCAAGACTCCAATCTTCAGCCCTCCAACCTCAGACTTCCAAACTTCAATTTCAAATCCCAAAAACCAAAATCCACCAAAGCAAACTCCCAATTCAGATTCCCATGCTAAGACTCCAGGCATGGCCCAATACTTTGACCCCAAGTCTCATACCCCAAACTTCAGAGTCCTAAACCAGACCCACGCTGGGACTCAAACCACAGATGGTTTTTGACCCTCAAACTCAGACCCTGAAACTCAGACTCATCAACTTCTAACTACAAAGCTCAGATCGTTCCTACGTCATACCCCAAAGCTCAGACTTCCAAACCCTAGATTGTAACCTCAGATCCCCAACCTCACTTTCCAGCTTCTGGCCTCCAAAATCAATACTCAAGGCCAAGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGAGGGGCCAAGGCGGGTGGATCACTTGAGATCAGGAGTTCGAGACCAGCCTGGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTGGCTGGGCATGATGGCGGGCGGCTGTAGCCCCAGCTACTTGGGAGGCTGAGGCAGTATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTGCAGCCTGGGCAACAGAGCAAAACTCTGTCTTAAAAACAAAACTAAACAAAACGAAACAAAAAAACCCTCAAAATTCAGGCCCTAACTCCAGAACCCAGCCTCAGACCCAACCATCACCCTTCTAAACCCAGAGGCCAAACCTCAACCCTAGAACTCAGACTCCAACACCAGTGAACATTAGACCTCCACCTTTCACCACACACACACTCTGACCCCAACCTCAAAAGTCCAAACTCAGAACCTTAAATGACAGACTCACAACTCCCCCAGCCTCAGCTCTGCAGACCCAGACCCCCCAAATTAGGTGCCCAGCTTCAGACCCCAAGTCTCATATCCCCACTTCAGGCCTCAACCTTGGCCTGAAAATACCCTGAAACTCAGACCTCCAACTGCAAAACCCCAAACTCAGCCCTCAGGTTCCCCCAGGGGAGGAGCAGGGCCCCTGACTTCATCTTGGCTCCTGGTCTTCCTGGGGCTCCAGCCTCCCATTGACCAACTTCCCTTGCTCCTCTCCAGGCTTCGTGACGGGAGGTCACGTCCTCCGCCTCTTTCATGGACATATGGATGAGTGTCTGACCATTTCCCCTGCTGACAGTGATGACCAGCGCAGGTCTGGGCTGTGGACGAGAGGGCCTGGGGTCTAGGGGTGGACGTGGAGGGCTGGGACCCTATGAGTAGGATTAGGGACCAGATTCCGGGGAGCTGAACCCTTGACTTCACTCTCTTCTGTGTCCCCAGACTTGTCTACTATGAGGGGGGAGCTGTGTGCACTCATGCCCGCTCCCTCTGGAGGCTGGAGCCACTGAGAATCAGGTAGGGCGGGGAAGATGGGGAGAGACCAGGGAGAGGCTGGGGTCACCTGGCAGGCTGGGAGGACAGAAAAGGTCTTGAGGGAAGATCTGATAAAGAGACTGAAGGGTCTCGAGGGAAAATCAGAGCAGCCTGAGAGAGAGATGAAAATCTCGGCCAGGCGTGGTGACTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATCACTGGAGGCCAGAAGTTCAAAACCAGCCTAGGCAACATCATGAGACCCCCGTCTCTGCAAAAAAAATAAAATAAAATAAATAAAATAAAGAATTAGCCGGGTGTGGTGGTGTGCACCTTTAGTCTCAGCTACTTTGTGGGGCTGAGGTGGGAGGATCACTCGAGCCCAGCGGGTCAAGGCTGCAGTGAGCTGAGATCCTGCCACAGTACTCCAGTCTGGGTGACAGAGCAAGATCCTGTCTCAAACAAACAAACAAACAAAACAAAAACAAAAAGAGGCCAAGCGTGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCCAGACCAGGCTGGCTAACGTGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTTGCCTGGTGTGGTGGTGGGCACCTGTAATCCTTGCTACTGGGGAGGCTCAGGCAGGAGAATCCCTTGAACCCAGGAGGTGGCGGTTGCAGTGAGCTGAGATTGCACCATTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAATACAAAAACAAAGGCCGGGGGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAATTAGCCAGGCGGTAGTGGCACGCACCTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGGTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGGCCCTGCCTTAAAAAAAAAAAAAAAAACAAGCAAAACAAAAATAAAAAATGAAGTCTCTCTGGAGTCCTGTGGGAAAAGGAGGTTTGGGGGGTTTTTGAGGGAGAGATTGGGGGCCCTGAGTAAAATGATGGGGGAATTTAGGGGTCTGGAAAAACGAGGGCACTGGAGACATTTGGGAAGCCCTGAGGAAGCTGTGAAGGCCTGAGAGAGGATTGGGGTTCCTAAGGGAGGACTAGGGGTCCTAATTAAGATGGTTTGAGGAACACTGGAAGAGGGTTCGGGGCTTGAGGAGGTTTGGACCAAGACTATAGTGTCCAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATTGCTTGAGCCCTGGAGTTCAAGATCAGCTTGGGCAACATAGCAAGACCTGGTTTCTGTAAAAAAAAGAAAAAGAAGAAAAGACTGTAATGTCCATGGGAGAACTGGGGGGTCCTCTGACTCCCCTTGGCTCTCACCCTCCACAGCTGGAGTGGGAGCCACCTGCGCTGGGGCCAGCCACTCCGAGTCCGGCATGTCACTACCGGGCAGTACCTAGCGCTCACCGAGGACCAGGGCCTGGTGGTGGTTGACGCCAGCAAGGCTCACACCAAGGCTACCTCCTTCTGCTTCCGCATCTCCAAGGTCAGTGGGGTTTGTGGCGC 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TTGATCATTTCCTGATCTGTGATCTCTGATGACTCTGTCTCCCATCTGCCGGTTTCCGGGTATCCACCCTTGATTTCTGGCCTCTGACGCTGGGACTCTCGCCCACCCCTGCAATCGTCTCTGACTGCCGCATCCTGGTGGCCCCCAGCACCTGTCGACCGCCAGTGGGGAGCTCCAGGTTGACGCTTCCTTCATGCAGACACTATGGAACATGAACCCCATCTGCTCCCGCTGCGAAGAGGGTGAGGGCCCCAGACCTCCCCCTAAATGGAGATCCCCCCAAAACAGACCCTTAATGTTGCCCTTCAGGCATACCCAAATGGAGCCTTGGAACCTCAGACCTCAAACCTAGATCTCCAAATTATGGCTCTCACACTTAGATCTCCAGCTGACCCCAAATCCAGACCCCCAGAGCTCAGAACCCCCCCAAACCCCGAACTAAATATCAGGCTCCCAAACTTAGACCCCAAAGTATTAGCCCCCAAGGCTCCTAAACTCAGATTCAAATCTTAAAACATCAAGTTTAAAGCTTGTTTAAAGGCCGGGCATGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTTTATTAAAAATGCAAAATTATCTGAGTGTGGTGGCATGTGCCTGTAATCCCACCTACTCAGGAGGGTGAGGCAGGAGAATTGCTTGAACCTGGGTGGCAGAGGAGCCTGGGTGACAGAGCCAGACTCTGCCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATTAAACTCCTTAGACAATAAGCATAGACTATGATCTCAGCCCCTCAAACCCAGACCCCCAAATTCAAACCTCAGATCCCCAAACCAAGACTCCAATCTTCAGCCCTCCAACCTCAGACTTCCAAACTTCAATTTCAAATCCCAAAAACCAAAATCCACCAAAGCAAACTCCCAATTCAGATTCCCATGCTAAGACTCCAGGCATGGCCCAATACTTTGACCCCAAGTCTCATACCCCAAACTTCAGAGTCCTAAACCAGACCCACGCTGGGACTCAAACCACAGATGGTTTTTGACCCTCAAACTCAGACCCTGAAACTCAGACTCATCAACTTCTAACTACAAAGCTCAGATCGTTCCTACGTCATACCCCAAAGCTCAGACTTCCAAACCCTAGATTGTAACCTCAGATCCCCAACCTCACTTTCCAGCTTCTGGCCTCCAAAATCAATACTCAAGGCCAAGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGAGGGGCCAAGGCGGGTGGATCACTTGAGATCAGGAGTTCGAGACCAGCCTGGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTGGCTGGGCATGATGGCGGGCGGCTGTAGCCCCAGCTACTTGGGAGGCTGAGGCAGTATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTGCAGCCTGGGCAACAGAGCAAAACTCTGTCTTAAAAACAAAACTAAACAAAACGAAACAAAAAAACCCTCAAAATTCAGGCCCTAACTCCAGAACCCAGCCTCAGACCCAACCATCACCCTTCTAAACCCAGAGGCCAAACCTCAACCCTAGAACTCAGACTCCAACACCAGTGAACATTAGACCTCCACCTTTCACCACACACACACTCTGACCCCAACCTCAAAAGTCCAAACTCAGAACCTTAAATGACAGACTCACAACTCCCCCAGCCTCAGCTCTGCAGACCCAGACCCCCCAAATTAGGTGCCCAGCTTCAGACCCCAAGTCTCATATCCCCACTTCAGGCCTCAACCTTGGCCTGAAAATACCCTGAAACTCAGACCTCCAACTGCAAAACCCCAAACTCAGCCCTCAGGTTCCCCCAGGGGAGGAGCAGGGCCCCTGACTTCATCTTGGCTCCTGGTCTTCCTGGGGCTCCAGCCTCCCATTGACCAACTTCCCTTGCTCCTCTCCAGGCTTCGTGACGGAAGGTCACGTCCTCCGCCTCTTTCATGGACATATGGATGAGTGTCTGACCATTTCCCCTGCTGACAGTGATGACCAGCGCAGGTCTGGGCTGTGGACGAGAGGGCCTGGGGTCTAGGGGTGGACGTGGAGGGCTGGGACCCTATGAGTAGGATTAGGGACCAGATTCCGGGGAGCTGAACCCTTGACTTCACTCTCTTCTGTGTCCCCAGACTTGTCTACTATGAGGGGGGAGCTGTGTGCACTCATGCCCGCTCCCTCTGGAGGCTGGAGCCACTGAGAATCAGGTAGGGCGGGGAAGATGGGGAGAGACCAGGGAGAGGCTGGGGTCACCTGGCAGGCTGGGAGGACAGAAAAGGTCTTGAGGGAAGATCTGATAAAGAGACTGAAGGGTCTCGAGGGAAAATCAGAGCAGCCTGAGAGAGAGATGAAAATCTCGGCCAGGCGTGGTGACTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATCACTGGAGGCCAGAAGTTCAAAACCAGCCTAGGCAACATCATGAGACCCCCGTCTCTGCAAAAAAAATAAAATAAAATAAATAAAATAAAGAATTAGCCGGGTGTGGTGGTGTGCACCTTTAGTCTCAGCTACTTTGTGGGGCTGAGGTGGGAGGATCACTCGAGCCCAGCGGGTCAAGGCTGCAGTGAGCTGAGATCCTGCCACAGTACTCCAGTCTGGGTGACAGAGCAAGATCCTGTCTCAAACAAACAAACAAACAAAACAAAAACAAAAAGAGGCCAAGCGTGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCCAGACCAGGCTGGCTAACGTGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTTGCCTGGTGTGGTGGTGGGCACCTGTAATCCTTGCTACTGGGGAGGCTCAGGCAGGAGAATCCCTTGAACCCAGGAGGTGGCGGTTGCAGTGAGCTGAGATTGCACCATTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAATACAAAAACAAAGGCCGGGGGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAATTAGCCAGGCGGTAGTGGCACGCACCTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGGTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGGCCCTGCCTTAAAAAAAAAAAAAAAAACAAGCAAAACAAAAATAAAAAATGAAGTCTCTCTGGAGTCCTGTGGGAAAAGGAGGTTTGGGGGGTTTTTGAGGGAGAGATTGGGGGCCCTGAGTAAAATGATGGGGGAATTTAGGGGTCTGGAAAAACGAGGGCACTGGAGACATTTGGGAAGCCCTGAGGAAGCTGTGAAGGCCTGAGAGAGGATTGGGGTTCCTAAGGGAGGACTAGGGGTCCTAATTAAGATGGTTTGAGGAACACTGGAAGAGGGTTCGGGGCTTGAGGAGGTTTGGACCAAGACTATAGTGTCCAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATTGCTTGAGCCCTGGAGTTCAAGATCAGCTTGGGCAACATAGCAAGACCTGGTTTCTGTAAAAAAAAGAAAAAGAAGAAAAGACTGTAATGTCCATGGGAGAACTGGGGGGTCCTCTGACTCCCCTTGGCTCTCACCCTCCACAGCTGGAGTGGGAGCCACCTGCGCTGGGGCCAGCCACTCCGAGTCCGGCATGTCACTACCGGGCAGTACCTAGCGCTCACCGAGGACCAGGGCCTGGTGGTGGTTGACGCCAGCAAGGCTCACACCAAGGCTACCTCCTTCTGCTTCCGCATCTCCAAGGTCAGTGGGGTTTGTGGCGC 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Task1_train_27071 | This mutation occurs in RYR1 (ryanodine receptor 1) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Malignant hyperthermia, susceptibility to, 1 | TCCCGCTGCGAAGAGGGTGAGGGCCCCAGACCTCCCCCTAAATGGAGATCCCCCCAAAACAGACCCTTAATGTTGCCCTTCAGGCATACCCAAATGGAGCCTTGGAACCTCAGACCTCAAACCTAGATCTCCAAATTATGGCTCTCACACTTAGATCTCCAGCTGACCCCAAATCCAGACCCCCAGAGCTCAGAACCCCCCCAAACCCCGAACTAAATATCAGGCTCCCAAACTTAGACCCCAAAGTATTAGCCCCCAAGGCTCCTAAACTCAGATTCAAATCTTAAAACATCAAGTTTAAAGCTTGTTTAAAGGCCGGGCATGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTTTATTAAAAATGCAAAATTATCTGAGTGTGGTGGCATGTGCCTGTAATCCCACCTACTCAGGAGGGTGAGGCAGGAGAATTGCTTGAACCTGGGTGGCAGAGGAGCCTGGGTGACAGAGCCAGACTCTGCCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATTAAACTCCTTAGACAATAAGCATAGACTATGATCTCAGCCCCTCAAACCCAGACCCCCAAATTCAAACCTCAGATCCCCAAACCAAGACTCCAATCTTCAGCCCTCCAACCTCAGACTTCCAAACTTCAATTTCAAATCCCAAAAACCAAAATCCACCAAAGCAAACTCCCAATTCAGATTCCCATGCTAAGACTCCAGGCATGGCCCAATACTTTGACCCCAAGTCTCATACCCCAAACTTCAGAGTCCTAAACCAGACCCACGCTGGGACTCAAACCACAGATGGTTTTTGACCCTCAAACTCAGACCCTGAAACTCAGACTCATCAACTTCTAACTACAAAGCTCAGATCGTTCCTACGTCATACCCCAAAGCTCAGACTTCCAAACCCTAGATTGTAACCTCAGATCCCCAACCTCACTTTCCAGCTTCTGGCCTCCAAAATCAATACTCAAGGCCAAGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGAGGGGCCAAGGCGGGTGGATCACTTGAGATCAGGAGTTCGAGACCAGCCTGGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTGGCTGGGCATGATGGCGGGCGGCTGTAGCCCCAGCTACTTGGGAGGCTGAGGCAGTATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTGCAGCCTGGGCAACAGAGCAAAACTCTGTCTTAAAAACAAAACTAAACAAAACGAAACAAAAAAACCCTCAAAATTCAGGCCCTAACTCCAGAACCCAGCCTCAGACCCAACCATCACCCTTCTAAACCCAGAGGCCAAACCTCAACCCTAGAACTCAGACTCCAACACCAGTGAACATTAGACCTCCACCTTTCACCACACACACACTCTGACCCCAACCTCAAAAGTCCAAACTCAGAACCTTAAATGACAGACTCACAACTCCCCCAGCCTCAGCTCTGCAGACCCAGACCCCCCAAATTAGGTGCCCAGCTTCAGACCCCAAGTCTCATATCCCCACTTCAGGCCTCAACCTTGGCCTGAAAATACCCTGAAACTCAGACCTCCAACTGCAAAACCCCAAACTCAGCCCTCAGGTTCCCCCAGGGGAGGAGCAGGGCCCCTGACTTCATCTTGGCTCCTGGTCTTCCTGGGGCTCCAGCCTCCCATTGACCAACTTCCCTTGCTCCTCTCCAGGCTTCGTGACGGGAGGTCACGTCCTCCGCCTCTTTCATGGACATATGGATGAGTGTCTGACCATTTCCCCTGCTGACAGTGATGACCAGCGCAGGTCTGGGCTGTGGACGAGAGGGCCTGGGGTCTAGGGGTGGACGTGGAGGGCTGGGACCCTATGAGTAGGATTAGGGACCAGATTCCGGGGAGCTGAACCCTTGACTTCACTCTCTTCTGTGTCCCCAGACTTGTCTACTATGAGGGGGGAGCTGTGTGCACTCATGCCCGCTCCCTCTGGAGGCTGGAGCCACTGAGAATCAGGTAGGGCGGGGAAGATGGGGAGAGACCAGGGAGAGGCTGGGGTCACCTGGCAGGCTGGGAGGACAGAAAAGGTCTTGAGGGAAGATCTGATAAAGAGACTGAAGGGTCTCGAGGGAAAATCAGAGCAGCCTGAGAGAGAGATGAAAATCTCGGCCAGGCGTGGTGACTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATCACTGGAGGCCAGAAGTTCAAAACCAGCCTAGGCAACATCATGAGACCCCCGTCTCTGCAAAAAAAATAAAATAAAATAAATAAAATAAAGAATTAGCCGGGTGTGGTGGTGTGCACCTTTAGTCTCAGCTACTTTGTGGGGCTGAGGTGGGAGGATCACTCGAGCCCAGCGGGTCAAGGCTGCAGTGAGCTGAGATCCTGCCACAGTACTCCAGTCTGGGTGACAGAGCAAGATCCTGTCTCAAACAAACAAACAAACAAAACAAAAACAAAAAGAGGCCAAGCGTGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCCAGACCAGGCTGGCTAACGTGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTTGCCTGGTGTGGTGGTGGGCACCTGTAATCCTTGCTACTGGGGAGGCTCAGGCAGGAGAATCCCTTGAACCCAGGAGGTGGCGGTTGCAGTGAGCTGAGATTGCACCATTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAATACAAAAACAAAGGCCGGGGGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAATTAGCCAGGCGGTAGTGGCACGCACCTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGGTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGGCCCTGCCTTAAAAAAAAAAAAAAAAACAAGCAAAACAAAAATAAAAAATGAAGTCTCTCTGGAGTCCTGTGGGAAAAGGAGGTTTGGGGGGTTTTTGAGGGAGAGATTGGGGGCCCTGAGTAAAATGATGGGGGAATTTAGGGGTCTGGAAAAACGAGGGCACTGGAGACATTTGGGAAGCCCTGAGGAAGCTGTGAAGGCCTGAGAGAGGATTGGGGTTCCTAAGGGAGGACTAGGGGTCCTAATTAAGATGGTTTGAGGAACACTGGAAGAGGGTTCGGGGCTTGAGGAGGTTTGGACCAAGACTATAGTGTCCAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATTGCTTGAGCCCTGGAGTTCAAGATCAGCTTGGGCAACATAGCAAGACCTGGTTTCTGTAAAAAAAAGAAAAAGAAGAAAAGACTGTAATGTCCATGGGAGAACTGGGGGGTCCTCTGACTCCCCTTGGCTCTCACCCTCCACAGCTGGAGTGGGAGCCACCTGCGCTGGGGCCAGCCACTCCGAGTCCGGCATGTCACTACCGGGCAGTACCTAGCGCTCACCGAGGACCAGGGCCTGGTGGTGGTTGACGCCAGCAAGGCTCACACCAAGGCTACCTCCTTCTGCTTCCGCATCTCCAAGGTCAGTGGGGTTTGTGGCGCCCTCCCTCACCTGAAGCCCCCAGTCCCAGCCCAGCCTGCACTCTGCAGTCCCTCAGGGGGGCTCCCCTGCTAAACACACAGGCAGAGGAGGCTGACCTGTGTCCCCTGCCCCTGTAGGAGAAGCTGGATGTGGCCCCCAAGCGGGATGTGGAGGGCATGGGCCCCCCTGAGATCAAGTACGGGGAGTCACTGTGCTTCGTGCAGCATGTGGCCTCAGGACTGTGGC 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TCCCGCTGCGAAGAGGGTGAGGGCCCCAGACCTCCCCCTAAATGGAGATCCCCCCAAAACAGACCCTTAATGTTGCCCTTCAGGCATACCCAAATGGAGCCTTGGAACCTCAGACCTCAAACCTAGATCTCCAAATTATGGCTCTCACACTTAGATCTCCAGCTGACCCCAAATCCAGACCCCCAGAGCTCAGAACCCCCCCAAACCCCGAACTAAATATCAGGCTCCCAAACTTAGACCCCAAAGTATTAGCCCCCAAGGCTCCTAAACTCAGATTCAAATCTTAAAACATCAAGTTTAAAGCTTGTTTAAAGGCCGGGCATGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTTTATTAAAAATGCAAAATTATCTGAGTGTGGTGGCATGTGCCTGTAATCCCACCTACTCAGGAGGGTGAGGCAGGAGAATTGCTTGAACCTGGGTGGCAGAGGAGCCTGGGTGACAGAGCCAGACTCTGCCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATTAAACTCCTTAGACAATAAGCATAGACTATGATCTCAGCCCCTCAAACCCAGACCCCCAAATTCAAACCTCAGATCCCCAAACCAAGACTCCAATCTTCAGCCCTCCAACCTCAGACTTCCAAACTTCAATTTCAAATCCCAAAAACCAAAATCCACCAAAGCAAACTCCCAATTCAGATTCCCATGCTAAGACTCCAGGCATGGCCCAATACTTTGACCCCAAGTCTCATACCCCAAACTTCAGAGTCCTAAACCAGACCCACGCTGGGACTCAAACCACAGATGGTTTTTGACCCTCAAACTCAGACCCTGAAACTCAGACTCATCAACTTCTAACTACAAAGCTCAGATCGTTCCTACGTCATACCCCAAAGCTCAGACTTCCAAACCCTAGATTGTAACCTCAGATCCCCAACCTCACTTTCCAGCTTCTGGCCTCCAAAATCAATACTCAAGGCCAAGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGAGGGGCCAAGGCGGGTGGATCACTTGAGATCAGGAGTTCGAGACCAGCCTGGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTGGCTGGGCATGATGGCGGGCGGCTGTAGCCCCAGCTACTTGGGAGGCTGAGGCAGTATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTGCAGCCTGGGCAACAGAGCAAAACTCTGTCTTAAAAACAAAACTAAACAAAACGAAACAAAAAAACCCTCAAAATTCAGGCCCTAACTCCAGAACCCAGCCTCAGACCCAACCATCACCCTTCTAAACCCAGAGGCCAAACCTCAACCCTAGAACTCAGACTCCAACACCAGTGAACATTAGACCTCCACCTTTCACCACACACACACTCTGACCCCAACCTCAAAAGTCCAAACTCAGAACCTTAAATGACAGACTCACAACTCCCCCAGCCTCAGCTCTGCAGACCCAGACCCCCCAAATTAGGTGCCCAGCTTCAGACCCCAAGTCTCATATCCCCACTTCAGGCCTCAACCTTGGCCTGAAAATACCCTGAAACTCAGACCTCCAACTGCAAAACCCCAAACTCAGCCCTCAGGTTCCCCCAGGGGAGGAGCAGGGCCCCTGACTTCATCTTGGCTCCTGGTCTTCCTGGGGCTCCAGCCTCCCATTGACCAACTTCCCTTGCTCCTCTCCAGGCTTCGTGACGGGAGGTCACGTCCTCCGCCTCTTTCATGGACATATGGATGAGTGTCTGACCATTTCCCCTGCTGACAGTGATGACCAGCGCAGGTCTGGGCTGTGGACGAGAGGGCCTGGGGTCTAGGGGTGGACGTGGAGGGCTGGGACCCTATGAGTAGGATTAGGGACCAGATTCCGGGGAGCTGAACCCTTGACTTCACTCTCTTCTGTGTCCCCAGACTTGTCTACTATGAGCGGGGAGCTGTGTGCACTCATGCCCGCTCCCTCTGGAGGCTGGAGCCACTGAGAATCAGGTAGGGCGGGGAAGATGGGGAGAGACCAGGGAGAGGCTGGGGTCACCTGGCAGGCTGGGAGGACAGAAAAGGTCTTGAGGGAAGATCTGATAAAGAGACTGAAGGGTCTCGAGGGAAAATCAGAGCAGCCTGAGAGAGAGATGAAAATCTCGGCCAGGCGTGGTGACTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATCACTGGAGGCCAGAAGTTCAAAACCAGCCTAGGCAACATCATGAGACCCCCGTCTCTGCAAAAAAAATAAAATAAAATAAATAAAATAAAGAATTAGCCGGGTGTGGTGGTGTGCACCTTTAGTCTCAGCTACTTTGTGGGGCTGAGGTGGGAGGATCACTCGAGCCCAGCGGGTCAAGGCTGCAGTGAGCTGAGATCCTGCCACAGTACTCCAGTCTGGGTGACAGAGCAAGATCCTGTCTCAAACAAACAAACAAACAAAACAAAAACAAAAAGAGGCCAAGCGTGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCCAGACCAGGCTGGCTAACGTGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTTGCCTGGTGTGGTGGTGGGCACCTGTAATCCTTGCTACTGGGGAGGCTCAGGCAGGAGAATCCCTTGAACCCAGGAGGTGGCGGTTGCAGTGAGCTGAGATTGCACCATTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAATACAAAAACAAAGGCCGGGGGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAATTAGCCAGGCGGTAGTGGCACGCACCTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGGTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGGCCCTGCCTTAAAAAAAAAAAAAAAAACAAGCAAAACAAAAATAAAAAATGAAGTCTCTCTGGAGTCCTGTGGGAAAAGGAGGTTTGGGGGGTTTTTGAGGGAGAGATTGGGGGCCCTGAGTAAAATGATGGGGGAATTTAGGGGTCTGGAAAAACGAGGGCACTGGAGACATTTGGGAAGCCCTGAGGAAGCTGTGAAGGCCTGAGAGAGGATTGGGGTTCCTAAGGGAGGACTAGGGGTCCTAATTAAGATGGTTTGAGGAACACTGGAAGAGGGTTCGGGGCTTGAGGAGGTTTGGACCAAGACTATAGTGTCCAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATTGCTTGAGCCCTGGAGTTCAAGATCAGCTTGGGCAACATAGCAAGACCTGGTTTCTGTAAAAAAAAGAAAAAGAAGAAAAGACTGTAATGTCCATGGGAGAACTGGGGGGTCCTCTGACTCCCCTTGGCTCTCACCCTCCACAGCTGGAGTGGGAGCCACCTGCGCTGGGGCCAGCCACTCCGAGTCCGGCATGTCACTACCGGGCAGTACCTAGCGCTCACCGAGGACCAGGGCCTGGTGGTGGTTGACGCCAGCAAGGCTCACACCAAGGCTACCTCCTTCTGCTTCCGCATCTCCAAGGTCAGTGGGGTTTGTGGCGCCCTCCCTCACCTGAAGCCCCCAGTCCCAGCCCAGCCTGCACTCTGCAGTCCCTCAGGGGGGCTCCCCTGCTAAACACACAGGCAGAGGAGGCTGACCTGTGTCCCCTGCCCCTGTAGGAGAAGCTGGATGTGGCCCCCAAGCGGGATGTGGAGGGCATGGGCCCCCCTGAGATCAAGTACGGGGAGTCACTGTGCTTCGTGCAGCATGTGGCCTCAGGACTGTGGC 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Task1_train_27072 | Here is a mutation in RYR1 (ryanodine receptor 1) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; RYR1-related disorder | CCCAAACTCAGCCCTCAGGTTCCCCCAGGGGAGGAGCAGGGCCCCTGACTTCATCTTGGCTCCTGGTCTTCCTGGGGCTCCAGCCTCCCATTGACCAACTTCCCTTGCTCCTCTCCAGGCTTCGTGACGGGAGGTCACGTCCTCCGCCTCTTTCATGGACATATGGATGAGTGTCTGACCATTTCCCCTGCTGACAGTGATGACCAGCGCAGGTCTGGGCTGTGGACGAGAGGGCCTGGGGTCTAGGGGTGGACGTGGAGGGCTGGGACCCTATGAGTAGGATTAGGGACCAGATTCCGGGGAGCTGAACCCTTGACTTCACTCTCTTCTGTGTCCCCAGACTTGTCTACTATGAGGGGGGAGCTGTGTGCACTCATGCCCGCTCCCTCTGGAGGCTGGAGCCACTGAGAATCAGGTAGGGCGGGGAAGATGGGGAGAGACCAGGGAGAGGCTGGGGTCACCTGGCAGGCTGGGAGGACAGAAAAGGTCTTGAGGGAAGATCTGATAAAGAGACTGAAGGGTCTCGAGGGAAAATCAGAGCAGCCTGAGAGAGAGATGAAAATCTCGGCCAGGCGTGGTGACTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATCACTGGAGGCCAGAAGTTCAAAACCAGCCTAGGCAACATCATGAGACCCCCGTCTCTGCAAAAAAAATAAAATAAAATAAATAAAATAAAGAATTAGCCGGGTGTGGTGGTGTGCACCTTTAGTCTCAGCTACTTTGTGGGGCTGAGGTGGGAGGATCACTCGAGCCCAGCGGGTCAAGGCTGCAGTGAGCTGAGATCCTGCCACAGTACTCCAGTCTGGGTGACAGAGCAAGATCCTGTCTCAAACAAACAAACAAACAAAACAAAAACAAAAAGAGGCCAAGCGTGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCCAGACCAGGCTGGCTAACGTGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTTGCCTGGTGTGGTGGTGGGCACCTGTAATCCTTGCTACTGGGGAGGCTCAGGCAGGAGAATCCCTTGAACCCAGGAGGTGGCGGTTGCAGTGAGCTGAGATTGCACCATTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAATACAAAAACAAAGGCCGGGGGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAATTAGCCAGGCGGTAGTGGCACGCACCTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGGTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGGCCCTGCCTTAAAAAAAAAAAAAAAAACAAGCAAAACAAAAATAAAAAATGAAGTCTCTCTGGAGTCCTGTGGGAAAAGGAGGTTTGGGGGGTTTTTGAGGGAGAGATTGGGGGCCCTGAGTAAAATGATGGGGGAATTTAGGGGTCTGGAAAAACGAGGGCACTGGAGACATTTGGGAAGCCCTGAGGAAGCTGTGAAGGCCTGAGAGAGGATTGGGGTTCCTAAGGGAGGACTAGGGGTCCTAATTAAGATGGTTTGAGGAACACTGGAAGAGGGTTCGGGGCTTGAGGAGGTTTGGACCAAGACTATAGTGTCCAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATTGCTTGAGCCCTGGAGTTCAAGATCAGCTTGGGCAACATAGCAAGACCTGGTTTCTGTAAAAAAAAGAAAAAGAAGAAAAGACTGTAATGTCCATGGGAGAACTGGGGGGTCCTCTGACTCCCCTTGGCTCTCACCCTCCACAGCTGGAGTGGGAGCCACCTGCGCTGGGGCCAGCCACTCCGAGTCCGGCATGTCACTACCGGGCAGTACCTAGCGCTCACCGAGGACCAGGGCCTGGTGGTGGTTGACGCCAGCAAGGCTCACACCAAGGCTACCTCCTTCTGCTTCCGCATCTCCAAGGTCAGTGGGGTTTGTGGCGCCCTCCCTCACCTGAAGCCCCCAGTCCCAGCCCAGCCTGCACTCTGCAGTCCCTCAGGGGGGCTCCCCTGCTAAACACACAGGCAGAGGAGGCTGACCTGTGTCCCCTGCCCCTGTAGGAGAAGCTGGATGTGGCCCCCAAGCGGGATGTGGAGGGCATGGGCCCCCCTGAGATCAAGTACGGGGAGTCACTGTGCTTCGTGCAGCATGTGGCCTCAGGACTGTGGCTCACCTATGCTGCTCCAGACCCCAAGGCCCTGCGGCTCGGCGTGCTCAAGAAGAAGGTGGGTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGTCCAGGAGGTCAAGGCTGCAGTGAGCTGGTGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGTGAGATGGGGTGCAGGAGGGTACTGAGGGGTGGTGCTTGAGACCTTGGGAGTTTGAGGATGAGACTGAGAGAAAGATAGAGACTGGGAGAGAAACTGAGACTGAGAGAAACAGCAAAAAAGACAAAGGGATATATCTACATGGAGAGAGAGAGAGAGCAGAAATCTGTAGACAGACAGGGAAAGGCAGAGATAAAGAGGCATGGAAACAGAGAAATAGAGAAAGATAGAGACAGAGAAACAGAGACACGGCCGGGCGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGTTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGCTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAAGTGGAGGTTGGGAGTGAGCCAATATCGTGCCATTGCACTCCAGCCTGGCTGACAAGAGTGAAACTCCGTCTCAGAAAAACAAAAACAAAACAAAACAAAAACAAAAACAGAGAGAGTGAGAAAAAGATGGATAATGACCAACTGAGAATAACTTTCAACAAACAATTACTGAGTACCCGCGTTGTTCTGGTTGTGTGTGCAGAAAATAGATGAGCTGTAGCGACCTGTTCCCTGCCCTCCCAGTGCTCAGAAATTGTGAACAAACTGCCTTTAGTGAAGTACATAGTTTTACAATTAAGGAGTGGGAAAACTATTTTTGGCAGCAGGAACAGCATGTGCAAAGGTCCTGAGGTTAACATGAGCTTGGCTTGTTGCAGTAGCAGAAAGAAGCCACAGTGTGGAACAGGGTGAGCAGGCTGGAGTAGTGGTTGGTGAGGAAAGAGAGGGGATGGGAACAGCTCGTGTGAGGCCTTGTGGGCCATGGGAGAGGTCTAGTTTTGTTTGTTTGTTTGTTTTTTGTAGAGACGAGGTCTCATTATATTACACAGGCTGGTCTCAAACTCCTGGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTAAAGTGAAGTGTGAGCCACTGCTCCTGGCCAGGTTCTAGTTTTTATCCTGAGTGAGATGGGCTCACAGGAGATTTTGAGCAGGGCAGGGAAGTGACCTGACGCAGGATCACAGAATTCTTAGGCTGTCTCTGGGAACAGACTACGGTCAGGGGACAGAGCCAGAGCAGGGAGACCAGAGAAGAGACTGCCATGATGTTACAAATGGGAGATGACAGTGGACAGGACCAGGAGGGGACTGTGGAGTTGGGAAGAGTAGTAGATTCTGGTGGGGTCCTGAGGGTAGAGCCAACAGGATTTGCTGACAGATTGGCTGTGGGGTGAGAGAAGGGGAGGGGTTGAGGATGATGCCATGATTTTTTGCCCCAAGCAACTGGAAGGATGGAAGTGCTGAAACAGCCTCATTGTCTGGAGTATCACCCAAGGTTTGTGGTCTCACAGCCACAGAGA 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CCCAAACTCAGCCCTCAGGTTCCCCCAGGGGAGGAGCAGGGCCCCTGACTTCATCTTGGCTCCTGGTCTTCCTGGGGCTCCAGCCTCCCATTGACCAACTTCCCTTGCTCCTCTCCAGGCTTCGTGACGGGAGGTCACGTCCTCCGCCTCTTTCATGGACATATGGATGAGTGTCTGACCATTTCCCCTGCTGACAGTGATGACCAGCGCAGGTCTGGGCTGTGGACGAGAGGGCCTGGGGTCTAGGGGTGGACGTGGAGGGCTGGGACCCTATGAGTAGGATTAGGGACCAGATTCCGGGGAGCTGAACCCTTGACTTCACTCTCTTCTGTGTCCCCAGACTTGTCTACTATGAGGGGGGAGCTGTGTGCACTCATGCCCGCTCCCTCTGGAGGCTGGAGCCACTGAGAATCAGGTAGGGCGGGGAAGATGGGGAGAGACCAGGGAGAGGCTGGGGTCACCTGGCAGGCTGGGAGGACAGAAAAGGTCTTGAGGGAAGATCTGATAAAGAGACTGAAGGGTCTCGAGGGAAAATCAGAGCAGCCTGAGAGAGAGATGAAAATCTCGGCCAGGCGTGGTGACTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATCACTGGAGGCCAGAAGTTCAAAACCAGCCTAGGCAACATCATGAGACCCCCGTCTCTGCAAAAAAAATAAAATAAAATAAATAAAATAAAGAATTAGCCGGGTGTGGTGGTGTGCACCTTTAGTCTCAGCTACTTTGTGGGGCTGAGGTGGGAGGATCACTCGAGCCCAGCGGGTCAAGGCTGCAGTGAGCTGAGATCCTGCCACAGTACTCCAGTCTGGGTGACAGAGCAAGATCCTGTCTCAAACAAACAAACAAACAAAACAAAAACAAAAAGAGGCCAAGCGTGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCCAGACCAGGCTGGCTAACGTGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTTGCCTGGTGTGGTGGTGGGCACCTGTAATCCTTGCTACTGGGGAGGCTCAGGCAGGAGAATCCCTTGAACCCAGGAGGTGGCGGTTGCAGTGAGCTGAGATTGCACCATTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAATACAAAAACAAAGGCCGGGGGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAATTAGCCAGGCGGTAGTGGCACGCACCTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGGTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGGCCCTGCCTTAAAAAAAAAAAAAAAAACAAGCAAAACAAAAATAAAAAATGAAGTCTCTCTGGAGTCCTGTGGGAAAAGGAGGTTTGGGGGGTTTTTGAGGGAGAGATTGGGGGCCCTGAGTAAAATGATGGGGGAATTTAGGGGTCTGGAAAAACGAGGGCACTGGAGACATTTGGGAAGCCCTGAGGAAGCTGTGAAGGCCTGAGAGAGGATTGGGGTTCCTAAGGGAGGACTAGGGGTCCTAATTAAGATGGTTTGAGGAACACTGGAAGAGGGTTCGGGGCTTGAGGAGGTTTGGACCAAGACTATAGTGTCCAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATTGCTTGAGCCCTGGAGTTCAAGATCAGCTTGGGCAACATAGCAAGACCTGGTTTCTGTAAAAAAAAGAAAAAGAAGAAAAGACTGTAATGTCCATGGGAGAACTGGGGGGTCCTCTGACTCCCCTTGGCTCTCACCCTCCACAGCTGGAGTGGGAGCCACCTGCGCTGGGGCCAGCCACTCCGAGTCCGGCGTGTCACTACCGGGCAGTACCTAGCGCTCACCGAGGACCAGGGCCTGGTGGTGGTTGACGCCAGCAAGGCTCACACCAAGGCTACCTCCTTCTGCTTCCGCATCTCCAAGGTCAGTGGGGTTTGTGGCGCCCTCCCTCACCTGAAGCCCCCAGTCCCAGCCCAGCCTGCACTCTGCAGTCCCTCAGGGGGGCTCCCCTGCTAAACACACAGGCAGAGGAGGCTGACCTGTGTCCCCTGCCCCTGTAGGAGAAGCTGGATGTGGCCCCCAAGCGGGATGTGGAGGGCATGGGCCCCCCTGAGATCAAGTACGGGGAGTCACTGTGCTTCGTGCAGCATGTGGCCTCAGGACTGTGGCTCACCTATGCTGCTCCAGACCCCAAGGCCCTGCGGCTCGGCGTGCTCAAGAAGAAGGTGGGTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGTCCAGGAGGTCAAGGCTGCAGTGAGCTGGTGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGTGAGATGGGGTGCAGGAGGGTACTGAGGGGTGGTGCTTGAGACCTTGGGAGTTTGAGGATGAGACTGAGAGAAAGATAGAGACTGGGAGAGAAACTGAGACTGAGAGAAACAGCAAAAAAGACAAAGGGATATATCTACATGGAGAGAGAGAGAGAGCAGAAATCTGTAGACAGACAGGGAAAGGCAGAGATAAAGAGGCATGGAAACAGAGAAATAGAGAAAGATAGAGACAGAGAAACAGAGACACGGCCGGGCGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGTTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGCTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAAGTGGAGGTTGGGAGTGAGCCAATATCGTGCCATTGCACTCCAGCCTGGCTGACAAGAGTGAAACTCCGTCTCAGAAAAACAAAAACAAAACAAAACAAAAACAAAAACAGAGAGAGTGAGAAAAAGATGGATAATGACCAACTGAGAATAACTTTCAACAAACAATTACTGAGTACCCGCGTTGTTCTGGTTGTGTGTGCAGAAAATAGATGAGCTGTAGCGACCTGTTCCCTGCCCTCCCAGTGCTCAGAAATTGTGAACAAACTGCCTTTAGTGAAGTACATAGTTTTACAATTAAGGAGTGGGAAAACTATTTTTGGCAGCAGGAACAGCATGTGCAAAGGTCCTGAGGTTAACATGAGCTTGGCTTGTTGCAGTAGCAGAAAGAAGCCACAGTGTGGAACAGGGTGAGCAGGCTGGAGTAGTGGTTGGTGAGGAAAGAGAGGGGATGGGAACAGCTCGTGTGAGGCCTTGTGGGCCATGGGAGAGGTCTAGTTTTGTTTGTTTGTTTGTTTTTTGTAGAGACGAGGTCTCATTATATTACACAGGCTGGTCTCAAACTCCTGGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTAAAGTGAAGTGTGAGCCACTGCTCCTGGCCAGGTTCTAGTTTTTATCCTGAGTGAGATGGGCTCACAGGAGATTTTGAGCAGGGCAGGGAAGTGACCTGACGCAGGATCACAGAATTCTTAGGCTGTCTCTGGGAACAGACTACGGTCAGGGGACAGAGCCAGAGCAGGGAGACCAGAGAAGAGACTGCCATGATGTTACAAATGGGAGATGACAGTGGACAGGACCAGGAGGGGACTGTGGAGTTGGGAAGAGTAGTAGATTCTGGTGGGGTCCTGAGGGTAGAGCCAACAGGATTTGCTGACAGATTGGCTGTGGGGTGAGAGAAGGGGAGGGGTTGAGGATGATGCCATGATTTTTTGCCCCAAGCAACTGGAAGGATGGAAGTGCTGAAACAGCCTCATTGTCTGGAGTATCACCCAAGGTTTGTGGTCTCACAGCCACAGAGA 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Task1_train_27073 | The gene RYR1 (ryanodine receptor 1) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Malignant hyperthermia, susceptibility to, 1 | CCCAAACTCAGCCCTCAGGTTCCCCCAGGGGAGGAGCAGGGCCCCTGACTTCATCTTGGCTCCTGGTCTTCCTGGGGCTCCAGCCTCCCATTGACCAACTTCCCTTGCTCCTCTCCAGGCTTCGTGACGGGAGGTCACGTCCTCCGCCTCTTTCATGGACATATGGATGAGTGTCTGACCATTTCCCCTGCTGACAGTGATGACCAGCGCAGGTCTGGGCTGTGGACGAGAGGGCCTGGGGTCTAGGGGTGGACGTGGAGGGCTGGGACCCTATGAGTAGGATTAGGGACCAGATTCCGGGGAGCTGAACCCTTGACTTCACTCTCTTCTGTGTCCCCAGACTTGTCTACTATGAGGGGGGAGCTGTGTGCACTCATGCCCGCTCCCTCTGGAGGCTGGAGCCACTGAGAATCAGGTAGGGCGGGGAAGATGGGGAGAGACCAGGGAGAGGCTGGGGTCACCTGGCAGGCTGGGAGGACAGAAAAGGTCTTGAGGGAAGATCTGATAAAGAGACTGAAGGGTCTCGAGGGAAAATCAGAGCAGCCTGAGAGAGAGATGAAAATCTCGGCCAGGCGTGGTGACTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATCACTGGAGGCCAGAAGTTCAAAACCAGCCTAGGCAACATCATGAGACCCCCGTCTCTGCAAAAAAAATAAAATAAAATAAATAAAATAAAGAATTAGCCGGGTGTGGTGGTGTGCACCTTTAGTCTCAGCTACTTTGTGGGGCTGAGGTGGGAGGATCACTCGAGCCCAGCGGGTCAAGGCTGCAGTGAGCTGAGATCCTGCCACAGTACTCCAGTCTGGGTGACAGAGCAAGATCCTGTCTCAAACAAACAAACAAACAAAACAAAAACAAAAAGAGGCCAAGCGTGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCCAGACCAGGCTGGCTAACGTGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTTGCCTGGTGTGGTGGTGGGCACCTGTAATCCTTGCTACTGGGGAGGCTCAGGCAGGAGAATCCCTTGAACCCAGGAGGTGGCGGTTGCAGTGAGCTGAGATTGCACCATTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAATACAAAAACAAAGGCCGGGGGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAATTAGCCAGGCGGTAGTGGCACGCACCTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGGTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGGCCCTGCCTTAAAAAAAAAAAAAAAAACAAGCAAAACAAAAATAAAAAATGAAGTCTCTCTGGAGTCCTGTGGGAAAAGGAGGTTTGGGGGGTTTTTGAGGGAGAGATTGGGGGCCCTGAGTAAAATGATGGGGGAATTTAGGGGTCTGGAAAAACGAGGGCACTGGAGACATTTGGGAAGCCCTGAGGAAGCTGTGAAGGCCTGAGAGAGGATTGGGGTTCCTAAGGGAGGACTAGGGGTCCTAATTAAGATGGTTTGAGGAACACTGGAAGAGGGTTCGGGGCTTGAGGAGGTTTGGACCAAGACTATAGTGTCCAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATTGCTTGAGCCCTGGAGTTCAAGATCAGCTTGGGCAACATAGCAAGACCTGGTTTCTGTAAAAAAAAGAAAAAGAAGAAAAGACTGTAATGTCCATGGGAGAACTGGGGGGTCCTCTGACTCCCCTTGGCTCTCACCCTCCACAGCTGGAGTGGGAGCCACCTGCGCTGGGGCCAGCCACTCCGAGTCCGGCATGTCACTACCGGGCAGTACCTAGCGCTCACCGAGGACCAGGGCCTGGTGGTGGTTGACGCCAGCAAGGCTCACACCAAGGCTACCTCCTTCTGCTTCCGCATCTCCAAGGTCAGTGGGGTTTGTGGCGCCCTCCCTCACCTGAAGCCCCCAGTCCCAGCCCAGCCTGCACTCTGCAGTCCCTCAGGGGGGCTCCCCTGCTAAACACACAGGCAGAGGAGGCTGACCTGTGTCCCCTGCCCCTGTAGGAGAAGCTGGATGTGGCCCCCAAGCGGGATGTGGAGGGCATGGGCCCCCCTGAGATCAAGTACGGGGAGTCACTGTGCTTCGTGCAGCATGTGGCCTCAGGACTGTGGCTCACCTATGCTGCTCCAGACCCCAAGGCCCTGCGGCTCGGCGTGCTCAAGAAGAAGGTGGGTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGTCCAGGAGGTCAAGGCTGCAGTGAGCTGGTGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGTGAGATGGGGTGCAGGAGGGTACTGAGGGGTGGTGCTTGAGACCTTGGGAGTTTGAGGATGAGACTGAGAGAAAGATAGAGACTGGGAGAGAAACTGAGACTGAGAGAAACAGCAAAAAAGACAAAGGGATATATCTACATGGAGAGAGAGAGAGAGCAGAAATCTGTAGACAGACAGGGAAAGGCAGAGATAAAGAGGCATGGAAACAGAGAAATAGAGAAAGATAGAGACAGAGAAACAGAGACACGGCCGGGCGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGTTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGCTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAAGTGGAGGTTGGGAGTGAGCCAATATCGTGCCATTGCACTCCAGCCTGGCTGACAAGAGTGAAACTCCGTCTCAGAAAAACAAAAACAAAACAAAACAAAAACAAAAACAGAGAGAGTGAGAAAAAGATGGATAATGACCAACTGAGAATAACTTTCAACAAACAATTACTGAGTACCCGCGTTGTTCTGGTTGTGTGTGCAGAAAATAGATGAGCTGTAGCGACCTGTTCCCTGCCCTCCCAGTGCTCAGAAATTGTGAACAAACTGCCTTTAGTGAAGTACATAGTTTTACAATTAAGGAGTGGGAAAACTATTTTTGGCAGCAGGAACAGCATGTGCAAAGGTCCTGAGGTTAACATGAGCTTGGCTTGTTGCAGTAGCAGAAAGAAGCCACAGTGTGGAACAGGGTGAGCAGGCTGGAGTAGTGGTTGGTGAGGAAAGAGAGGGGATGGGAACAGCTCGTGTGAGGCCTTGTGGGCCATGGGAGAGGTCTAGTTTTGTTTGTTTGTTTGTTTTTTGTAGAGACGAGGTCTCATTATATTACACAGGCTGGTCTCAAACTCCTGGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTAAAGTGAAGTGTGAGCCACTGCTCCTGGCCAGGTTCTAGTTTTTATCCTGAGTGAGATGGGCTCACAGGAGATTTTGAGCAGGGCAGGGAAGTGACCTGACGCAGGATCACAGAATTCTTAGGCTGTCTCTGGGAACAGACTACGGTCAGGGGACAGAGCCAGAGCAGGGAGACCAGAGAAGAGACTGCCATGATGTTACAAATGGGAGATGACAGTGGACAGGACCAGGAGGGGACTGTGGAGTTGGGAAGAGTAGTAGATTCTGGTGGGGTCCTGAGGGTAGAGCCAACAGGATTTGCTGACAGATTGGCTGTGGGGTGAGAGAAGGGGAGGGGTTGAGGATGATGCCATGATTTTTTGCCCCAAGCAACTGGAAGGATGGAAGTGCTGAAACAGCCTCATTGTCTGGAGTATCACCCAAGGTTTGTGGTCTCACAGCCACAGAGA 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CCCAAACTCAGCCCTCAGGTTCCCCCAGGGGAGGAGCAGGGCCCCTGACTTCATCTTGGCTCCTGGTCTTCCTGGGGCTCCAGCCTCCCATTGACCAACTTCCCTTGCTCCTCTCCAGGCTTCGTGACGGGAGGTCACGTCCTCCGCCTCTTTCATGGACATATGGATGAGTGTCTGACCATTTCCCCTGCTGACAGTGATGACCAGCGCAGGTCTGGGCTGTGGACGAGAGGGCCTGGGGTCTAGGGGTGGACGTGGAGGGCTGGGACCCTATGAGTAGGATTAGGGACCAGATTCCGGGGAGCTGAACCCTTGACTTCACTCTCTTCTGTGTCCCCAGACTTGTCTACTATGAGGGGGGAGCTGTGTGCACTCATGCCCGCTCCCTCTGGAGGCTGGAGCCACTGAGAATCAGGTAGGGCGGGGAAGATGGGGAGAGACCAGGGAGAGGCTGGGGTCACCTGGCAGGCTGGGAGGACAGAAAAGGTCTTGAGGGAAGATCTGATAAAGAGACTGAAGGGTCTCGAGGGAAAATCAGAGCAGCCTGAGAGAGAGATGAAAATCTCGGCCAGGCGTGGTGACTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATCACTGGAGGCCAGAAGTTCAAAACCAGCCTAGGCAACATCATGAGACCCCCGTCTCTGCAAAAAAAATAAAATAAAATAAATAAAATAAAGAATTAGCCGGGTGTGGTGGTGTGCACCTTTAGTCTCAGCTACTTTGTGGGGCTGAGGTGGGAGGATCACTCGAGCCCAGCGGGTCAAGGCTGCAGTGAGCTGAGATCCTGCCACAGTACTCCAGTCTGGGTGACAGAGCAAGATCCTGTCTCAAACAAACAAACAAACAAAACAAAAACAAAAAGAGGCCAAGCGTGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCCAGACCAGGCTGGCTAACGTGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTTGCCTGGTGTGGTGGTGGGCACCTGTAATCCTTGCTACTGGGGAGGCTCAGGCAGGAGAATCCCTTGAACCCAGGAGGTGGCGGTTGCAGTGAGCTGAGATTGCACCATTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAATACAAAAACAAAGGCCGGGGGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAATTAGCCAGGCGGTAGTGGCACGCACCTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGGTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGGCCCTGCCTTAAAAAAAAAAAAAAAAACAAGCAAAACAAAAATAAAAAATGAAGTCTCTCTGGAGTCCTGTGGGAAAAGGAGGTTTGGGGGGTTTTTGAGGGAGAGATTGGGGGCCCTGAGTAAAATGATGGGGGAATTTAGGGGTCTGGAAAAACGAGGGCACTGGAGACATTTGGGAAGCCCTGAGGAAGCTGTGAAGGCCTGAGAGAGGATTGGGGTTCCTAAGGGAGGACTAGGGGTCCTAATTAAGATGGTTTGAGGAACACTGGAAGAGGGTTCGGGGCTTGAGGAGGTTTGGACCAAGACTATAGTGTCCAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATTGCTTGAGCCCTGGAGTTCAAGATCAGCTTGGGCAACATAGCAAGACCTGGTTTCTGTAAAAAAAAGAAAAAGAAGAAAAGACTGTAATGTCCATGGGAGAACTGGGGGGTCCTCTGACTCCCCTTGGCTCTCACCCTCCACAGCTGGAGTGGGAGCCACCTGCGCTGGGGCCAGCCACTCCGAGTCCGGCGTGTCACTACCGGGCAGTACCTAGCGCTCACCGAGGACCAGGGCCTGGTGGTGGTTGACGCCAGCAAGGCTCACACCAAGGCTACCTCCTTCTGCTTCCGCATCTCCAAGGTCAGTGGGGTTTGTGGCGCCCTCCCTCACCTGAAGCCCCCAGTCCCAGCCCAGCCTGCACTCTGCAGTCCCTCAGGGGGGCTCCCCTGCTAAACACACAGGCAGAGGAGGCTGACCTGTGTCCCCTGCCCCTGTAGGAGAAGCTGGATGTGGCCCCCAAGCGGGATGTGGAGGGCATGGGCCCCCCTGAGATCAAGTACGGGGAGTCACTGTGCTTCGTGCAGCATGTGGCCTCAGGACTGTGGCTCACCTATGCTGCTCCAGACCCCAAGGCCCTGCGGCTCGGCGTGCTCAAGAAGAAGGTGGGTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGTCCAGGAGGTCAAGGCTGCAGTGAGCTGGTGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGTGAGATGGGGTGCAGGAGGGTACTGAGGGGTGGTGCTTGAGACCTTGGGAGTTTGAGGATGAGACTGAGAGAAAGATAGAGACTGGGAGAGAAACTGAGACTGAGAGAAACAGCAAAAAAGACAAAGGGATATATCTACATGGAGAGAGAGAGAGAGCAGAAATCTGTAGACAGACAGGGAAAGGCAGAGATAAAGAGGCATGGAAACAGAGAAATAGAGAAAGATAGAGACAGAGAAACAGAGACACGGCCGGGCGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGTTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGCTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAAGTGGAGGTTGGGAGTGAGCCAATATCGTGCCATTGCACTCCAGCCTGGCTGACAAGAGTGAAACTCCGTCTCAGAAAAACAAAAACAAAACAAAACAAAAACAAAAACAGAGAGAGTGAGAAAAAGATGGATAATGACCAACTGAGAATAACTTTCAACAAACAATTACTGAGTACCCGCGTTGTTCTGGTTGTGTGTGCAGAAAATAGATGAGCTGTAGCGACCTGTTCCCTGCCCTCCCAGTGCTCAGAAATTGTGAACAAACTGCCTTTAGTGAAGTACATAGTTTTACAATTAAGGAGTGGGAAAACTATTTTTGGCAGCAGGAACAGCATGTGCAAAGGTCCTGAGGTTAACATGAGCTTGGCTTGTTGCAGTAGCAGAAAGAAGCCACAGTGTGGAACAGGGTGAGCAGGCTGGAGTAGTGGTTGGTGAGGAAAGAGAGGGGATGGGAACAGCTCGTGTGAGGCCTTGTGGGCCATGGGAGAGGTCTAGTTTTGTTTGTTTGTTTGTTTTTTGTAGAGACGAGGTCTCATTATATTACACAGGCTGGTCTCAAACTCCTGGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTAAAGTGAAGTGTGAGCCACTGCTCCTGGCCAGGTTCTAGTTTTTATCCTGAGTGAGATGGGCTCACAGGAGATTTTGAGCAGGGCAGGGAAGTGACCTGACGCAGGATCACAGAATTCTTAGGCTGTCTCTGGGAACAGACTACGGTCAGGGGACAGAGCCAGAGCAGGGAGACCAGAGAAGAGACTGCCATGATGTTACAAATGGGAGATGACAGTGGACAGGACCAGGAGGGGACTGTGGAGTTGGGAAGAGTAGTAGATTCTGGTGGGGTCCTGAGGGTAGAGCCAACAGGATTTGCTGACAGATTGGCTGTGGGGTGAGAGAAGGGGAGGGGTTGAGGATGATGCCATGATTTTTTGCCCCAAGCAACTGGAAGGATGGAAGTGCTGAAACAGCCTCATTGTCTGGAGTATCACCCAAGGTTTGTGGTCTCACAGCCACAGAGA 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Task1_train_27074 | Gene RYR1 (ryanodine receptor 1) on Chromosome 19 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Malignant hyperthermia, susceptibility to, 1 | CCTTGACTTCACTCTCTTCTGTGTCCCCAGACTTGTCTACTATGAGGGGGGAGCTGTGTGCACTCATGCCCGCTCCCTCTGGAGGCTGGAGCCACTGAGAATCAGGTAGGGCGGGGAAGATGGGGAGAGACCAGGGAGAGGCTGGGGTCACCTGGCAGGCTGGGAGGACAGAAAAGGTCTTGAGGGAAGATCTGATAAAGAGACTGAAGGGTCTCGAGGGAAAATCAGAGCAGCCTGAGAGAGAGATGAAAATCTCGGCCAGGCGTGGTGACTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATCACTGGAGGCCAGAAGTTCAAAACCAGCCTAGGCAACATCATGAGACCCCCGTCTCTGCAAAAAAAATAAAATAAAATAAATAAAATAAAGAATTAGCCGGGTGTGGTGGTGTGCACCTTTAGTCTCAGCTACTTTGTGGGGCTGAGGTGGGAGGATCACTCGAGCCCAGCGGGTCAAGGCTGCAGTGAGCTGAGATCCTGCCACAGTACTCCAGTCTGGGTGACAGAGCAAGATCCTGTCTCAAACAAACAAACAAACAAAACAAAAACAAAAAGAGGCCAAGCGTGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCCAGACCAGGCTGGCTAACGTGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTTGCCTGGTGTGGTGGTGGGCACCTGTAATCCTTGCTACTGGGGAGGCTCAGGCAGGAGAATCCCTTGAACCCAGGAGGTGGCGGTTGCAGTGAGCTGAGATTGCACCATTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAATACAAAAACAAAGGCCGGGGGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAATTAGCCAGGCGGTAGTGGCACGCACCTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGGTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGGCCCTGCCTTAAAAAAAAAAAAAAAAACAAGCAAAACAAAAATAAAAAATGAAGTCTCTCTGGAGTCCTGTGGGAAAAGGAGGTTTGGGGGGTTTTTGAGGGAGAGATTGGGGGCCCTGAGTAAAATGATGGGGGAATTTAGGGGTCTGGAAAAACGAGGGCACTGGAGACATTTGGGAAGCCCTGAGGAAGCTGTGAAGGCCTGAGAGAGGATTGGGGTTCCTAAGGGAGGACTAGGGGTCCTAATTAAGATGGTTTGAGGAACACTGGAAGAGGGTTCGGGGCTTGAGGAGGTTTGGACCAAGACTATAGTGTCCAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATTGCTTGAGCCCTGGAGTTCAAGATCAGCTTGGGCAACATAGCAAGACCTGGTTTCTGTAAAAAAAAGAAAAAGAAGAAAAGACTGTAATGTCCATGGGAGAACTGGGGGGTCCTCTGACTCCCCTTGGCTCTCACCCTCCACAGCTGGAGTGGGAGCCACCTGCGCTGGGGCCAGCCACTCCGAGTCCGGCATGTCACTACCGGGCAGTACCTAGCGCTCACCGAGGACCAGGGCCTGGTGGTGGTTGACGCCAGCAAGGCTCACACCAAGGCTACCTCCTTCTGCTTCCGCATCTCCAAGGTCAGTGGGGTTTGTGGCGCCCTCCCTCACCTGAAGCCCCCAGTCCCAGCCCAGCCTGCACTCTGCAGTCCCTCAGGGGGGCTCCCCTGCTAAACACACAGGCAGAGGAGGCTGACCTGTGTCCCCTGCCCCTGTAGGAGAAGCTGGATGTGGCCCCCAAGCGGGATGTGGAGGGCATGGGCCCCCCTGAGATCAAGTACGGGGAGTCACTGTGCTTCGTGCAGCATGTGGCCTCAGGACTGTGGCTCACCTATGCTGCTCCAGACCCCAAGGCCCTGCGGCTCGGCGTGCTCAAGAAGAAGGTGGGTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGTCCAGGAGGTCAAGGCTGCAGTGAGCTGGTGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGTGAGATGGGGTGCAGGAGGGTACTGAGGGGTGGTGCTTGAGACCTTGGGAGTTTGAGGATGAGACTGAGAGAAAGATAGAGACTGGGAGAGAAACTGAGACTGAGAGAAACAGCAAAAAAGACAAAGGGATATATCTACATGGAGAGAGAGAGAGAGCAGAAATCTGTAGACAGACAGGGAAAGGCAGAGATAAAGAGGCATGGAAACAGAGAAATAGAGAAAGATAGAGACAGAGAAACAGAGACACGGCCGGGCGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGTTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGCTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAAGTGGAGGTTGGGAGTGAGCCAATATCGTGCCATTGCACTCCAGCCTGGCTGACAAGAGTGAAACTCCGTCTCAGAAAAACAAAAACAAAACAAAACAAAAACAAAAACAGAGAGAGTGAGAAAAAGATGGATAATGACCAACTGAGAATAACTTTCAACAAACAATTACTGAGTACCCGCGTTGTTCTGGTTGTGTGTGCAGAAAATAGATGAGCTGTAGCGACCTGTTCCCTGCCCTCCCAGTGCTCAGAAATTGTGAACAAACTGCCTTTAGTGAAGTACATAGTTTTACAATTAAGGAGTGGGAAAACTATTTTTGGCAGCAGGAACAGCATGTGCAAAGGTCCTGAGGTTAACATGAGCTTGGCTTGTTGCAGTAGCAGAAAGAAGCCACAGTGTGGAACAGGGTGAGCAGGCTGGAGTAGTGGTTGGTGAGGAAAGAGAGGGGATGGGAACAGCTCGTGTGAGGCCTTGTGGGCCATGGGAGAGGTCTAGTTTTGTTTGTTTGTTTGTTTTTTGTAGAGACGAGGTCTCATTATATTACACAGGCTGGTCTCAAACTCCTGGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTAAAGTGAAGTGTGAGCCACTGCTCCTGGCCAGGTTCTAGTTTTTATCCTGAGTGAGATGGGCTCACAGGAGATTTTGAGCAGGGCAGGGAAGTGACCTGACGCAGGATCACAGAATTCTTAGGCTGTCTCTGGGAACAGACTACGGTCAGGGGACAGAGCCAGAGCAGGGAGACCAGAGAAGAGACTGCCATGATGTTACAAATGGGAGATGACAGTGGACAGGACCAGGAGGGGACTGTGGAGTTGGGAAGAGTAGTAGATTCTGGTGGGGTCCTGAGGGTAGAGCCAACAGGATTTGCTGACAGATTGGCTGTGGGGTGAGAGAAGGGGAGGGGTTGAGGATGATGCCATGATTTTTTGCCCCAAGCAACTGGAAGGATGGAAGTGCTGAAACAGCCTCATTGTCTGGAGTATCACCCAAGGTTTGTGGTCTCACAGCCACAGAGAACAAGGACGCAGACACACAAAGAGTGAGGTTAAGAGGGGACATTTAATAGGCGAAAGAAGGAGCTCTCTACTGCAGAGAAGGGTCCCAGAAAAATGGGTTGAAATGCAGGGGGTTCCATGGTGAAATGCAGGGGGCTTTACAGATGAGCTGGTGGGGAGGTGGTATCTGATTTACCTAGGGTGCAAAAGACTGGTTGGACCAGTTGTGCCATTTGCATAGGGCACAAATTTCTGGCTGCCTCCACCCTAAGCTTTTATTGTACAAGCGGGTCCTCTGCCTGAGCTGGCCATGTTGCCCATTCCTTTTCTG 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CCTTGACTTCACTCTCTTCTGTGTCCCCAGACTTGTCTACTATGAGGGGGGAGCTGTGTGCACTCATGCCCGCTCCCTCTGGAGGCTGGAGCCACTGAGAATCAGGTAGGGCGGGGAAGATGGGGAGAGACCAGGGAGAGGCTGGGGTCACCTGGCAGGCTGGGAGGACAGAAAAGGTCTTGAGGGAAGATCTGATAAAGAGACTGAAGGGTCTCGAGGGAAAATCAGAGCAGCCTGAGAGAGAGATGAAAATCTCGGCCAGGCGTGGTGACTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATCACTGGAGGCCAGAAGTTCAAAACCAGCCTAGGCAACATCATGAGACCCCCGTCTCTGCAAAAAAAATAAAATAAAATAAATAAAATAAAGAATTAGCCGGGTGTGGTGGTGTGCACCTTTAGTCTCAGCTACTTTGTGGGGCTGAGGTGGGAGGATCACTCGAGCCCAGCGGGTCAAGGCTGCAGTGAGCTGAGATCCTGCCACAGTACTCCAGTCTGGGTGACAGAGCAAGATCCTGTCTCAAACAAACAAACAAACAAAACAAAAACAAAAAGAGGCCAAGCGTGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCCAGACCAGGCTGGCTAACGTGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTTGCCTGGTGTGGTGGTGGGCACCTGTAATCCTTGCTACTGGGGAGGCTCAGGCAGGAGAATCCCTTGAACCCAGGAGGTGGCGGTTGCAGTGAGCTGAGATTGCACCATTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAATACAAAAACAAAGGCCGGGGGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAATTAGCCAGGCGGTAGTGGCACGCACCTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGGTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGGCCCTGCCTTAAAAAAAAAAAAAAAAACAAGCAAAACAAAAATAAAAAATGAAGTCTCTCTGGAGTCCTGTGGGAAAAGGAGGTTTGGGGGGTTTTTGAGGGAGAGATTGGGGGCCCTGAGTAAAATGATGGGGGAATTTAGGGGTCTGGAAAAACGAGGGCACTGGAGACATTTGGGAAGCCCTGAGGAAGCTGTGAAGGCCTGAGAGAGGATTGGGGTTCCTAAGGGAGGACTAGGGGTCCTAATTAAGATGGTTTGAGGAACACTGGAAGAGGGTTCGGGGCTTGAGGAGGTTTGGACCAAGACTATAGTGTCCAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATTGCTTGAGCCCTGGAGTTCAAGATCAGCTTGGGCAACATAGCAAGACCTGGTTTCTGTAAAAAAAAGAAAAAGAAGAAAAGACTGTAATGTCCATGGGAGAACTGGGGGGTCCTCTGACTCCCCTTGGCTCTCACCCTCCACAGCTGGAGTGGGAGCCACCTGCGCTGGGGCCAGCCACTCCGAGTCCGGCATGTCACTACCGGGCAGTACCTAGCGCTCACCGAGGACCAGGGCCTGGTGGTGGTTGACGCCAGCAAGGCTCACACCAAGGCTACCTCCTTCTGCTTCCGCATCTCCAAGGTCAGTGGGGTTTGTGGCGCCCTCCCTCACCTGAAGCCCCCAGTCCCAGCCCAGCCTGCACTCTGCAGTCCCTCAGGGGGGCTCCCCTGCTAAACACACAGGCAGAGGAGGCTGACCTGTGTCCCCTGCCCCTGTAGGAGAAGCTGGATGTGGCCCCCAAGCGGGATGTGGAGGGCATGGGCCCCCCTGAGATCAAGTACAGGGAGTCACTGTGCTTCGTGCAGCATGTGGCCTCAGGACTGTGGCTCACCTATGCTGCTCCAGACCCCAAGGCCCTGCGGCTCGGCGTGCTCAAGAAGAAGGTGGGTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGTCCAGGAGGTCAAGGCTGCAGTGAGCTGGTGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGTGAGATGGGGTGCAGGAGGGTACTGAGGGGTGGTGCTTGAGACCTTGGGAGTTTGAGGATGAGACTGAGAGAAAGATAGAGACTGGGAGAGAAACTGAGACTGAGAGAAACAGCAAAAAAGACAAAGGGATATATCTACATGGAGAGAGAGAGAGAGCAGAAATCTGTAGACAGACAGGGAAAGGCAGAGATAAAGAGGCATGGAAACAGAGAAATAGAGAAAGATAGAGACAGAGAAACAGAGACACGGCCGGGCGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGTTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGCTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAAGTGGAGGTTGGGAGTGAGCCAATATCGTGCCATTGCACTCCAGCCTGGCTGACAAGAGTGAAACTCCGTCTCAGAAAAACAAAAACAAAACAAAACAAAAACAAAAACAGAGAGAGTGAGAAAAAGATGGATAATGACCAACTGAGAATAACTTTCAACAAACAATTACTGAGTACCCGCGTTGTTCTGGTTGTGTGTGCAGAAAATAGATGAGCTGTAGCGACCTGTTCCCTGCCCTCCCAGTGCTCAGAAATTGTGAACAAACTGCCTTTAGTGAAGTACATAGTTTTACAATTAAGGAGTGGGAAAACTATTTTTGGCAGCAGGAACAGCATGTGCAAAGGTCCTGAGGTTAACATGAGCTTGGCTTGTTGCAGTAGCAGAAAGAAGCCACAGTGTGGAACAGGGTGAGCAGGCTGGAGTAGTGGTTGGTGAGGAAAGAGAGGGGATGGGAACAGCTCGTGTGAGGCCTTGTGGGCCATGGGAGAGGTCTAGTTTTGTTTGTTTGTTTGTTTTTTGTAGAGACGAGGTCTCATTATATTACACAGGCTGGTCTCAAACTCCTGGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTAAAGTGAAGTGTGAGCCACTGCTCCTGGCCAGGTTCTAGTTTTTATCCTGAGTGAGATGGGCTCACAGGAGATTTTGAGCAGGGCAGGGAAGTGACCTGACGCAGGATCACAGAATTCTTAGGCTGTCTCTGGGAACAGACTACGGTCAGGGGACAGAGCCAGAGCAGGGAGACCAGAGAAGAGACTGCCATGATGTTACAAATGGGAGATGACAGTGGACAGGACCAGGAGGGGACTGTGGAGTTGGGAAGAGTAGTAGATTCTGGTGGGGTCCTGAGGGTAGAGCCAACAGGATTTGCTGACAGATTGGCTGTGGGGTGAGAGAAGGGGAGGGGTTGAGGATGATGCCATGATTTTTTGCCCCAAGCAACTGGAAGGATGGAAGTGCTGAAACAGCCTCATTGTCTGGAGTATCACCCAAGGTTTGTGGTCTCACAGCCACAGAGAACAAGGACGCAGACACACAAAGAGTGAGGTTAAGAGGGGACATTTAATAGGCGAAAGAAGGAGCTCTCTACTGCAGAGAAGGGTCCCAGAAAAATGGGTTGAAATGCAGGGGGTTCCATGGTGAAATGCAGGGGGCTTTACAGATGAGCTGGTGGGGAGGTGGTATCTGATTTACCTAGGGTGCAAAAGACTGGTTGGACCAGTTGTGCCATTTGCATAGGGCACAAATTTCTGGCTGCCTCCACCCTAAGCTTTTATTGTACAAGCGGGTCCTCTGCCTGAGCTGGCCATGTTGCCCATTCCTTTTCTG 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Task1_train_27075 | This variant impacts the gene RYR1 (ryanodine receptor 1) on Chromosome 19. Is the change likely to result in a pathogenic outcome? | Pathogenic; Malignant hyperthermia, susceptibility to, 1 | CCTTGACTTCACTCTCTTCTGTGTCCCCAGACTTGTCTACTATGAGGGGGGAGCTGTGTGCACTCATGCCCGCTCCCTCTGGAGGCTGGAGCCACTGAGAATCAGGTAGGGCGGGGAAGATGGGGAGAGACCAGGGAGAGGCTGGGGTCACCTGGCAGGCTGGGAGGACAGAAAAGGTCTTGAGGGAAGATCTGATAAAGAGACTGAAGGGTCTCGAGGGAAAATCAGAGCAGCCTGAGAGAGAGATGAAAATCTCGGCCAGGCGTGGTGACTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATCACTGGAGGCCAGAAGTTCAAAACCAGCCTAGGCAACATCATGAGACCCCCGTCTCTGCAAAAAAAATAAAATAAAATAAATAAAATAAAGAATTAGCCGGGTGTGGTGGTGTGCACCTTTAGTCTCAGCTACTTTGTGGGGCTGAGGTGGGAGGATCACTCGAGCCCAGCGGGTCAAGGCTGCAGTGAGCTGAGATCCTGCCACAGTACTCCAGTCTGGGTGACAGAGCAAGATCCTGTCTCAAACAAACAAACAAACAAAACAAAAACAAAAAGAGGCCAAGCGTGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCCAGACCAGGCTGGCTAACGTGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTTGCCTGGTGTGGTGGTGGGCACCTGTAATCCTTGCTACTGGGGAGGCTCAGGCAGGAGAATCCCTTGAACCCAGGAGGTGGCGGTTGCAGTGAGCTGAGATTGCACCATTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAATACAAAAACAAAGGCCGGGGGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAATTAGCCAGGCGGTAGTGGCACGCACCTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGGTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGGCCCTGCCTTAAAAAAAAAAAAAAAAACAAGCAAAACAAAAATAAAAAATGAAGTCTCTCTGGAGTCCTGTGGGAAAAGGAGGTTTGGGGGGTTTTTGAGGGAGAGATTGGGGGCCCTGAGTAAAATGATGGGGGAATTTAGGGGTCTGGAAAAACGAGGGCACTGGAGACATTTGGGAAGCCCTGAGGAAGCTGTGAAGGCCTGAGAGAGGATTGGGGTTCCTAAGGGAGGACTAGGGGTCCTAATTAAGATGGTTTGAGGAACACTGGAAGAGGGTTCGGGGCTTGAGGAGGTTTGGACCAAGACTATAGTGTCCAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATTGCTTGAGCCCTGGAGTTCAAGATCAGCTTGGGCAACATAGCAAGACCTGGTTTCTGTAAAAAAAAGAAAAAGAAGAAAAGACTGTAATGTCCATGGGAGAACTGGGGGGTCCTCTGACTCCCCTTGGCTCTCACCCTCCACAGCTGGAGTGGGAGCCACCTGCGCTGGGGCCAGCCACTCCGAGTCCGGCATGTCACTACCGGGCAGTACCTAGCGCTCACCGAGGACCAGGGCCTGGTGGTGGTTGACGCCAGCAAGGCTCACACCAAGGCTACCTCCTTCTGCTTCCGCATCTCCAAGGTCAGTGGGGTTTGTGGCGCCCTCCCTCACCTGAAGCCCCCAGTCCCAGCCCAGCCTGCACTCTGCAGTCCCTCAGGGGGGCTCCCCTGCTAAACACACAGGCAGAGGAGGCTGACCTGTGTCCCCTGCCCCTGTAGGAGAAGCTGGATGTGGCCCCCAAGCGGGATGTGGAGGGCATGGGCCCCCCTGAGATCAAGTACGGGGAGTCACTGTGCTTCGTGCAGCATGTGGCCTCAGGACTGTGGCTCACCTATGCTGCTCCAGACCCCAAGGCCCTGCGGCTCGGCGTGCTCAAGAAGAAGGTGGGTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGTCCAGGAGGTCAAGGCTGCAGTGAGCTGGTGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGTGAGATGGGGTGCAGGAGGGTACTGAGGGGTGGTGCTTGAGACCTTGGGAGTTTGAGGATGAGACTGAGAGAAAGATAGAGACTGGGAGAGAAACTGAGACTGAGAGAAACAGCAAAAAAGACAAAGGGATATATCTACATGGAGAGAGAGAGAGAGCAGAAATCTGTAGACAGACAGGGAAAGGCAGAGATAAAGAGGCATGGAAACAGAGAAATAGAGAAAGATAGAGACAGAGAAACAGAGACACGGCCGGGCGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGTTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGCTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAAGTGGAGGTTGGGAGTGAGCCAATATCGTGCCATTGCACTCCAGCCTGGCTGACAAGAGTGAAACTCCGTCTCAGAAAAACAAAAACAAAACAAAACAAAAACAAAAACAGAGAGAGTGAGAAAAAGATGGATAATGACCAACTGAGAATAACTTTCAACAAACAATTACTGAGTACCCGCGTTGTTCTGGTTGTGTGTGCAGAAAATAGATGAGCTGTAGCGACCTGTTCCCTGCCCTCCCAGTGCTCAGAAATTGTGAACAAACTGCCTTTAGTGAAGTACATAGTTTTACAATTAAGGAGTGGGAAAACTATTTTTGGCAGCAGGAACAGCATGTGCAAAGGTCCTGAGGTTAACATGAGCTTGGCTTGTTGCAGTAGCAGAAAGAAGCCACAGTGTGGAACAGGGTGAGCAGGCTGGAGTAGTGGTTGGTGAGGAAAGAGAGGGGATGGGAACAGCTCGTGTGAGGCCTTGTGGGCCATGGGAGAGGTCTAGTTTTGTTTGTTTGTTTGTTTTTTGTAGAGACGAGGTCTCATTATATTACACAGGCTGGTCTCAAACTCCTGGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTAAAGTGAAGTGTGAGCCACTGCTCCTGGCCAGGTTCTAGTTTTTATCCTGAGTGAGATGGGCTCACAGGAGATTTTGAGCAGGGCAGGGAAGTGACCTGACGCAGGATCACAGAATTCTTAGGCTGTCTCTGGGAACAGACTACGGTCAGGGGACAGAGCCAGAGCAGGGAGACCAGAGAAGAGACTGCCATGATGTTACAAATGGGAGATGACAGTGGACAGGACCAGGAGGGGACTGTGGAGTTGGGAAGAGTAGTAGATTCTGGTGGGGTCCTGAGGGTAGAGCCAACAGGATTTGCTGACAGATTGGCTGTGGGGTGAGAGAAGGGGAGGGGTTGAGGATGATGCCATGATTTTTTGCCCCAAGCAACTGGAAGGATGGAAGTGCTGAAACAGCCTCATTGTCTGGAGTATCACCCAAGGTTTGTGGTCTCACAGCCACAGAGAACAAGGACGCAGACACACAAAGAGTGAGGTTAAGAGGGGACATTTAATAGGCGAAAGAAGGAGCTCTCTACTGCAGAGAAGGGTCCCAGAAAAATGGGTTGAAATGCAGGGGGTTCCATGGTGAAATGCAGGGGGCTTTACAGATGAGCTGGTGGGGAGGTGGTATCTGATTTACCTAGGGTGCAAAAGACTGGTTGGACCAGTTGTGCCATTTGCATAGGGCACAAATTTCTGGCTGCCTCCACCCTAAGCTTTTATTGTACAAGCGGGTCCTCTGCCTGAGCTGGCCATGTTGCCCATTCCTTTTCTG 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CCTTGACTTCACTCTCTTCTGTGTCCCCAGACTTGTCTACTATGAGGGGGGAGCTGTGTGCACTCATGCCCGCTCCCTCTGGAGGCTGGAGCCACTGAGAATCAGGTAGGGCGGGGAAGATGGGGAGAGACCAGGGAGAGGCTGGGGTCACCTGGCAGGCTGGGAGGACAGAAAAGGTCTTGAGGGAAGATCTGATAAAGAGACTGAAGGGTCTCGAGGGAAAATCAGAGCAGCCTGAGAGAGAGATGAAAATCTCGGCCAGGCGTGGTGACTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATCACTGGAGGCCAGAAGTTCAAAACCAGCCTAGGCAACATCATGAGACCCCCGTCTCTGCAAAAAAAATAAAATAAAATAAATAAAATAAAGAATTAGCCGGGTGTGGTGGTGTGCACCTTTAGTCTCAGCTACTTTGTGGGGCTGAGGTGGGAGGATCACTCGAGCCCAGCGGGTCAAGGCTGCAGTGAGCTGAGATCCTGCCACAGTACTCCAGTCTGGGTGACAGAGCAAGATCCTGTCTCAAACAAACAAACAAACAAAACAAAAACAAAAAGAGGCCAAGCGTGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCCAGACCAGGCTGGCTAACGTGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTTGCCTGGTGTGGTGGTGGGCACCTGTAATCCTTGCTACTGGGGAGGCTCAGGCAGGAGAATCCCTTGAACCCAGGAGGTGGCGGTTGCAGTGAGCTGAGATTGCACCATTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAATACAAAAACAAAGGCCGGGGGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAATTAGCCAGGCGGTAGTGGCACGCACCTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGGTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGGCCCTGCCTTAAAAAAAAAAAAAAAAACAAGCAAAACAAAAATAAAAAATGAAGTCTCTCTGGAGTCCTGTGGGAAAAGGAGGTTTGGGGGGTTTTTGAGGGAGAGATTGGGGGCCCTGAGTAAAATGATGGGGGAATTTAGGGGTCTGGAAAAACGAGGGCACTGGAGACATTTGGGAAGCCCTGAGGAAGCTGTGAAGGCCTGAGAGAGGATTGGGGTTCCTAAGGGAGGACTAGGGGTCCTAATTAAGATGGTTTGAGGAACACTGGAAGAGGGTTCGGGGCTTGAGGAGGTTTGGACCAAGACTATAGTGTCCAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATTGCTTGAGCCCTGGAGTTCAAGATCAGCTTGGGCAACATAGCAAGACCTGGTTTCTGTAAAAAAAAGAAAAAGAAGAAAAGACTGTAATGTCCATGGGAGAACTGGGGGGTCCTCTGACTCCCCTTGGCTCTCACCCTCCACAGCTGGAGTGGGAGCCACCTGCGCTGGGGCCAGCCACTCCGAGTCCGGCATGTCACTACCGGGCAGTACCTAGCGCTCACCGAGGACCAGGGCCTGGTGGTGGTTGACGCCAGCAAGGCTCACACCAAGGCTACCTCCTTCTGCTTCCGCATCTCCAAGGTCAGTGGGGTTTGTGGCGCCCTCCCTCACCTGAAGCCCCCAGTCCCAGCCCAGCCTGCACTCTGCAGTCCCTCAGGGGGGCTCCCCTGCTAAACACACAGGCAGAGGAGGCTGACCTGTGTCCCCTGCCCCTGTAGGAGAAGCTGGATGTGGCCCCCAAGCGGGATGTGGAGGGCATGGGCCCCCCTGAGATCAAGTACCGGGAGTCACTGTGCTTCGTGCAGCATGTGGCCTCAGGACTGTGGCTCACCTATGCTGCTCCAGACCCCAAGGCCCTGCGGCTCGGCGTGCTCAAGAAGAAGGTGGGTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGTCCAGGAGGTCAAGGCTGCAGTGAGCTGGTGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGTGAGATGGGGTGCAGGAGGGTACTGAGGGGTGGTGCTTGAGACCTTGGGAGTTTGAGGATGAGACTGAGAGAAAGATAGAGACTGGGAGAGAAACTGAGACTGAGAGAAACAGCAAAAAAGACAAAGGGATATATCTACATGGAGAGAGAGAGAGAGCAGAAATCTGTAGACAGACAGGGAAAGGCAGAGATAAAGAGGCATGGAAACAGAGAAATAGAGAAAGATAGAGACAGAGAAACAGAGACACGGCCGGGCGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGTTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGCTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAAGTGGAGGTTGGGAGTGAGCCAATATCGTGCCATTGCACTCCAGCCTGGCTGACAAGAGTGAAACTCCGTCTCAGAAAAACAAAAACAAAACAAAACAAAAACAAAAACAGAGAGAGTGAGAAAAAGATGGATAATGACCAACTGAGAATAACTTTCAACAAACAATTACTGAGTACCCGCGTTGTTCTGGTTGTGTGTGCAGAAAATAGATGAGCTGTAGCGACCTGTTCCCTGCCCTCCCAGTGCTCAGAAATTGTGAACAAACTGCCTTTAGTGAAGTACATAGTTTTACAATTAAGGAGTGGGAAAACTATTTTTGGCAGCAGGAACAGCATGTGCAAAGGTCCTGAGGTTAACATGAGCTTGGCTTGTTGCAGTAGCAGAAAGAAGCCACAGTGTGGAACAGGGTGAGCAGGCTGGAGTAGTGGTTGGTGAGGAAAGAGAGGGGATGGGAACAGCTCGTGTGAGGCCTTGTGGGCCATGGGAGAGGTCTAGTTTTGTTTGTTTGTTTGTTTTTTGTAGAGACGAGGTCTCATTATATTACACAGGCTGGTCTCAAACTCCTGGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTAAAGTGAAGTGTGAGCCACTGCTCCTGGCCAGGTTCTAGTTTTTATCCTGAGTGAGATGGGCTCACAGGAGATTTTGAGCAGGGCAGGGAAGTGACCTGACGCAGGATCACAGAATTCTTAGGCTGTCTCTGGGAACAGACTACGGTCAGGGGACAGAGCCAGAGCAGGGAGACCAGAGAAGAGACTGCCATGATGTTACAAATGGGAGATGACAGTGGACAGGACCAGGAGGGGACTGTGGAGTTGGGAAGAGTAGTAGATTCTGGTGGGGTCCTGAGGGTAGAGCCAACAGGATTTGCTGACAGATTGGCTGTGGGGTGAGAGAAGGGGAGGGGTTGAGGATGATGCCATGATTTTTTGCCCCAAGCAACTGGAAGGATGGAAGTGCTGAAACAGCCTCATTGTCTGGAGTATCACCCAAGGTTTGTGGTCTCACAGCCACAGAGAACAAGGACGCAGACACACAAAGAGTGAGGTTAAGAGGGGACATTTAATAGGCGAAAGAAGGAGCTCTCTACTGCAGAGAAGGGTCCCAGAAAAATGGGTTGAAATGCAGGGGGTTCCATGGTGAAATGCAGGGGGCTTTACAGATGAGCTGGTGGGGAGGTGGTATCTGATTTACCTAGGGTGCAAAAGACTGGTTGGACCAGTTGTGCCATTTGCATAGGGCACAAATTTCTGGCTGCCTCCACCCTAAGCTTTTATTGTACAAGCGGGTCCTCTGCCTGAGCTGGCCATGTTGCCCATTCCTTTTCTG 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Task1_train_27076 | This variant lies on Chromosome 19 and affects the gene RYR1 (ryanodine receptor 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Malignant hyperthermia, susceptibility to, 1 | GGGTGAGCAGGCTGGAGTAGTGGTTGGTGAGGAAAGAGAGGGGATGGGAACAGCTCGTGTGAGGCCTTGTGGGCCATGGGAGAGGTCTAGTTTTGTTTGTTTGTTTGTTTTTTGTAGAGACGAGGTCTCATTATATTACACAGGCTGGTCTCAAACTCCTGGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTAAAGTGAAGTGTGAGCCACTGCTCCTGGCCAGGTTCTAGTTTTTATCCTGAGTGAGATGGGCTCACAGGAGATTTTGAGCAGGGCAGGGAAGTGACCTGACGCAGGATCACAGAATTCTTAGGCTGTCTCTGGGAACAGACTACGGTCAGGGGACAGAGCCAGAGCAGGGAGACCAGAGAAGAGACTGCCATGATGTTACAAATGGGAGATGACAGTGGACAGGACCAGGAGGGGACTGTGGAGTTGGGAAGAGTAGTAGATTCTGGTGGGGTCCTGAGGGTAGAGCCAACAGGATTTGCTGACAGATTGGCTGTGGGGTGAGAGAAGGGGAGGGGTTGAGGATGATGCCATGATTTTTTGCCCCAAGCAACTGGAAGGATGGAAGTGCTGAAACAGCCTCATTGTCTGGAGTATCACCCAAGGTTTGTGGTCTCACAGCCACAGAGAACAAGGACGCAGACACACAAAGAGTGAGGTTAAGAGGGGACATTTAATAGGCGAAAGAAGGAGCTCTCTACTGCAGAGAAGGGTCCCAGAAAAATGGGTTGAAATGCAGGGGGTTCCATGGTGAAATGCAGGGGGCTTTACAGATGAGCTGGTGGGGAGGTGGTATCTGATTTACCTAGGGTGCAAAAGACTGGTTGGACCAGTTGTGCCATTTGCATAGGGCACAAATTTCTGGCTGCCTCCACCCTAAGCTTTTATTGTACAAGCGGGTCCTCTGCCTGAGCTGGCCATGTTGCCCATTCCTTTTCTGTACAACGTGGAAACAATAAATAAATAAATAACTAAATAAAGGGAAGATGGAGCCTCCATGTTGGACATGCGTAGCCCCAGGTATACCTTTTCTATCGGCACATTCCCCCATGCAAGCTTGTAGCTCGATTTTCCAGGCTGCTCTTTGTTAGAAAAGAAATTATTTTGGGGGCTGCTTTCCGTTAGAAAGGAAACTCTGCCGAGGACTCTGTTGCCCTTACTCTCTGCCTAAATAATTTTTTTCTACCTCTTGTATCAGTGCCATCAACCAAGTTAGGGGACAGTCAGTGTTGGCTCAGAAGGACAGGGATCTTAGGCTTTACTGCCAGTGCCTAGAACAGAGCCACTTACTACAGCCTTGCTGAATGGACAAGTAGGAATCCTTGGGGAGGCACTCGTTTGCAAAAACAGGCCTGTAGTTGAATACATGAGCCAAGGGCGTAGAGACGGGGCCTGGGCCATGTCCAAAGTGGGGACACGTGAGCATCATCAGCAGGTGGATGGTGTTTACAGCCGCAGACTGGATGAGTTCTGGGGAGGTCGGCTTGGGGTGAAGCTGGCAGCCATGATGGTCTCACCTCGTGGAAAGGTGGTCTGGCATTCTATCTGGGACAGGTTCAATTTGGGGGTTAGAGCTTTCTGGTCGGGGGGAATGTTAAGTCAGCAGTAGGTACAGGTGGAAAGGGTCTGGCCTGGAGACAGAGACAGGAAGGAGATAGGGATAGAGAGATAGAGAGGGAGAGGCAGGGACAGAGGTGAGAGAGATAGAGAGACAAAGACAGACAAAACCAAAAACAGGGACAGAGAGAGACAGAGAGGAGAGAGAGAATCAAAGACACAGAGGAGACAGATGACGGGGGACAGAAAAATGAGGAGGAATTTGCAGTGAGATTCTGCAGAGCAGGGAGGAGGGGGCAAGTGCAGAACTCAAGTCTAGACAGACGTCTTGGGGGCATGGCCCTGGGTGGCTGGGCCCACTCCAGACCTCTGTCTCCCCACTCCTAGGCCATGCTGCACCAGGAGGGCCACATGGACGACGCACTGTCGCTGACCCGCTGCCAGCAGGAGGAGTCCCAGGCCGCCCGCATGATCCACAGCACCAATGGCCTATACAACCAGTTCATCAAGTGAGCAACCTGCCCTCCCTGCTGGGGTGACTCCTGTGCTGTCCCATGCTCCGGGCATCCATACACTTGGCCTCTTTCATCTCTACCTCTGTTGCCCACACCCTTGTCTAACATATACATGGGCCAAGCGCAGTGGCTCACACCTGTAATCCCAAGACTTTGGGAGGGCAAGGCATGAGGATCGCTTGGGCCCAGGAGCTTGAGACCAGCCTGGGCAGCATAGGGAGACCCCGCCTCTACCAAAAAAAAAAAAAAAAAAAAAAAAATTAGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGAGAGGCTGAGGCGGGCAGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGAGCAATATAGTGAAACCCTGTCTCTATAAAAAAAATAACAAAATATTGGCCAGGTGTGGTGGCACGTGCCTGTAGTCCCAGCTGCATGGGAAGCTGAGGAAGGAGGATTGCTTGAGCCGAGGGGGCAGAGGCTGCAGTGAGCCACTATACTCCAGCTTCACTGACAGAGCGAGACCCTTCTCAAAAAATAATAACAATAATATACACATGACCCCTAACCTCTAAACTCCTGACCTCTGTACACTTGACCCCTAATCTGACCTTGACAACCATGATCACATTCCTGATCATCACCCAACTTTCACACCCCTGACACCCAGAGCCTGGACCCTGGACCTCTCCATCCCTGAGTTCCGGGACCCCCCTGTACCTACACAGGAGCGAGTCCCAGTCCCAGCTCTGCCCTTGGCCATTGTGTGACCTCGGACAAATGCTTTTCCCTCTCTGCGTCTCGGTCTCCCTCTCTGTAAAACGGGTGGGTCTGGGGGAGTCTTGCGGGAGTGAGGTTGCGGCAGTGACGTTGCGGCAGTTAGCGCTCCCAGCCGTGGCTGACAGCTGCGAGGTCCCTGTAGGAGCCTGGACAGCTTCAGCGGGAAGCCACGGGGCTCGGGGCCACCCGCTGGCACGGCGCTGCCCATCGAGGGCGTTATCCTGAGCCTGCAGGACCTCATCATCTACTTCGAGCCTCCCTCCGAGGACTTGCAGCACGAGGAGAAGCAGAGCAAGCTGCGAAGCCTGCGCAACCGCCAGAGCCTCTTCCAGGAGGAGGTGAGGACGTGGCGAGGGCGGAGCGGGGCCTGTGGGCCCAGGGGGCGGGACCACTGAGGGGCGGGGCCACGGCGCTGGGCGGGGCAGGGCCTGAGGGACCTGGGGAAGTAGGGTCTGAGAAGGGGGCGGGGCAGGAGAAGGAGCCGGACAGGAACCCCAGCCAGTGAGAACACGATGGGGCGGGGCCTTGGGAGGGGCGGGCCTGCTGTGCTGGTGGGCAGGACCTTTGGGAAGGGGCAGGGCGTATGGCCGACCAGGGGGCGGGGCCTGGAGAGAAGGATGGAATAAAAGAGCTGAGGGGCGGGGCCTATGTGAAGCTCAGGTATAGGGTGAGGCCTGGGGAGGTGAGGCCAGGAGTGGGGCCAGAGGTCAGAGGTAGGGCTGCCGACTCAGCGGGCGGGGTCTGCTGGCGCGGGGTCTGTGGGGTGGGCGGACAGAATCAGTGTGGGGTATGGGAGGTGCCGAGGCAGAAATAGATCTTTGGGCATTAGGGAGGGGAGGCCAGCTGTGAACAAAACAGAAAAAAATCTCTGTCCTTATGGAGTTGACATGGCGGGGAGAGACAGGAGATCAATAAAATAAATAAGTAAATTGTATGGCATATTAGATGGTAATAACTGTTAAAGAGAAAAATTCAGCAGGTAAGGGGTAGGGAGTGTTGGGGTTTTGCAGTTTAAGACAGAGCTGTCAGACAGGGTGACCTGGAGGAAGAGAGGAAGCCATGTGCAAAGGCCATGAGGTGGGCGGGTGTTTGGCATGTTCCAGAAACAGTCAGGTGGTGATTGGAGCAGGGAGGCTTGGGTGGGGGAGTGGGAGGAAATGAGGGCAGAGAGGTGACGAGGGCCAGGCCTTGGTGAGGACTTTGGCTTTGGGAGC 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GGGTGAGCAGGCTGGAGTAGTGGTTGGTGAGGAAAGAGAGGGGATGGGAACAGCTCGTGTGAGGCCTTGTGGGCCATGGGAGAGGTCTAGTTTTGTTTGTTTGTTTGTTTTTTGTAGAGACGAGGTCTCATTATATTACACAGGCTGGTCTCAAACTCCTGGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTAAAGTGAAGTGTGAGCCACTGCTCCTGGCCAGGTTCTAGTTTTTATCCTGAGTGAGATGGGCTCACAGGAGATTTTGAGCAGGGCAGGGAAGTGACCTGACGCAGGATCACAGAATTCTTAGGCTGTCTCTGGGAACAGACTACGGTCAGGGGACAGAGCCAGAGCAGGGAGACCAGAGAAGAGACTGCCATGATGTTACAAATGGGAGATGACAGTGGACAGGACCAGGAGGGGACTGTGGAGTTGGGAAGAGTAGTAGATTCTGGTGGGGTCCTGAGGGTAGAGCCAACAGGATTTGCTGACAGATTGGCTGTGGGGTGAGAGAAGGGGAGGGGTTGAGGATGATGCCATGATTTTTTGCCCCAAGCAACTGGAAGGATGGAAGTGCTGAAACAGCCTCATTGTCTGGAGTATCACCCAAGGTTTGTGGTCTCACAGCCACAGAGAACAAGGACGCAGACACACAAAGAGTGAGGTTAAGAGGGGACATTTAATAGGCGAAAGAAGGAGCTCTCTACTGCAGAGAAGGGTCCCAGAAAAATGGGTTGAAATGCAGGGGGTTCCATGGTGAAATGCAGGGGGCTTTACAGATGAGCTGGTGGGGAGGTGGTATCTGATTTACCTAGGGTGCAAAAGACTGGTTGGACCAGTTGTGCCATTTGCATAGGGCACAAATTTCTGGCTGCCTCCACCCTAAGCTTTTATTGTACAAGCGGGTCCTCTGCCTGAGCTGGCCATGTTGCCCATTCCTTTTCTGTACAACGTGGAAACAATAAATAAATAAATAACTAAATAAAGGGAAGATGGAGCCTCCATGTTGGACATGCGTAGCCCCAGGTATACCTTTTCTATCGGCACATTCCCCCATGCAAGCTTGTAGCTCGATTTTCCAGGCTGCTCTTTGTTAGAAAAGAAATTATTTTGGGGGCTGCTTTCCGTTAGAAAGGAAACTCTGCCGAGGACTCTGTTGCCCTTACTCTCTGCCTAAATAATTTTTTTCTACCTCTTGTATCAGTGCCATCAACCAAGTTAGGGGACAGTCAGTGTTGGCTCAGAAGGACAGGGATCTTAGGCTTTACTGCCAGTGCCTAGAACAGAGCCACTTACTACAGCCTTGCTGAATGGACAAGTAGGAATCCTTGGGGAGGCACTCGTTTGCAAAAACAGGCCTGTAGTTGAATACATGAGCCAAGGGCGTAGAGACGGGGCCTGGGCCATGTCCAAAGTGGGGACACGTGAGCATCATCAGCAGGTGGATGGTGTTTACAGCCGCAGACTGGATGAGTTCTGGGGAGGTCGGCTTGGGGTGAAGCTGGCAGCCATGATGGTCTCACCTCGTGGAAAGGTGGTCTGGCATTCTATCTGGGACAGGTTCAATTTGGGGGTTAGAGCTTTCTGGTCGGGGGGAATGTTAAGTCAGCAGTAGGTACAGGTGGAAAGGGTCTGGCCTGGAGACAGAGACAGGAAGGAGATAGGGATAGAGAGATAGAGAGGGAGAGGCAGGGACAGAGGTGAGAGAGATAGAGAGACAAAGACAGACAAAACCAAAAACAGGGACAGAGAGAGACAGAGAGGAGAGAGAGAATCAAAGACACAGAGGAGACAGATGACGGGGGACAGAAAAATGAGGAGGAATTTGCAGTGAGATTCTGCAGAGCAGGGAGGAGGGGGCAAGTGCAGAACTCAAGTCTAGACAGACGTCTTGGGGGCATGGCCCTGGGTGGCTGGGCCCACTCCAGACCTCTGTCTCCCCACTCCTAGGCCATGCTGCACCAGGAGGGCCACATGGACGACGCACTGTCGCTGACCCGCTGCCAGCAGGAGGAGTCCCAGGCCGCCCACATGATCCACAGCACCAATGGCCTATACAACCAGTTCATCAAGTGAGCAACCTGCCCTCCCTGCTGGGGTGACTCCTGTGCTGTCCCATGCTCCGGGCATCCATACACTTGGCCTCTTTCATCTCTACCTCTGTTGCCCACACCCTTGTCTAACATATACATGGGCCAAGCGCAGTGGCTCACACCTGTAATCCCAAGACTTTGGGAGGGCAAGGCATGAGGATCGCTTGGGCCCAGGAGCTTGAGACCAGCCTGGGCAGCATAGGGAGACCCCGCCTCTACCAAAAAAAAAAAAAAAAAAAAAAAAATTAGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGAGAGGCTGAGGCGGGCAGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGAGCAATATAGTGAAACCCTGTCTCTATAAAAAAAATAACAAAATATTGGCCAGGTGTGGTGGCACGTGCCTGTAGTCCCAGCTGCATGGGAAGCTGAGGAAGGAGGATTGCTTGAGCCGAGGGGGCAGAGGCTGCAGTGAGCCACTATACTCCAGCTTCACTGACAGAGCGAGACCCTTCTCAAAAAATAATAACAATAATATACACATGACCCCTAACCTCTAAACTCCTGACCTCTGTACACTTGACCCCTAATCTGACCTTGACAACCATGATCACATTCCTGATCATCACCCAACTTTCACACCCCTGACACCCAGAGCCTGGACCCTGGACCTCTCCATCCCTGAGTTCCGGGACCCCCCTGTACCTACACAGGAGCGAGTCCCAGTCCCAGCTCTGCCCTTGGCCATTGTGTGACCTCGGACAAATGCTTTTCCCTCTCTGCGTCTCGGTCTCCCTCTCTGTAAAACGGGTGGGTCTGGGGGAGTCTTGCGGGAGTGAGGTTGCGGCAGTGACGTTGCGGCAGTTAGCGCTCCCAGCCGTGGCTGACAGCTGCGAGGTCCCTGTAGGAGCCTGGACAGCTTCAGCGGGAAGCCACGGGGCTCGGGGCCACCCGCTGGCACGGCGCTGCCCATCGAGGGCGTTATCCTGAGCCTGCAGGACCTCATCATCTACTTCGAGCCTCCCTCCGAGGACTTGCAGCACGAGGAGAAGCAGAGCAAGCTGCGAAGCCTGCGCAACCGCCAGAGCCTCTTCCAGGAGGAGGTGAGGACGTGGCGAGGGCGGAGCGGGGCCTGTGGGCCCAGGGGGCGGGACCACTGAGGGGCGGGGCCACGGCGCTGGGCGGGGCAGGGCCTGAGGGACCTGGGGAAGTAGGGTCTGAGAAGGGGGCGGGGCAGGAGAAGGAGCCGGACAGGAACCCCAGCCAGTGAGAACACGATGGGGCGGGGCCTTGGGAGGGGCGGGCCTGCTGTGCTGGTGGGCAGGACCTTTGGGAAGGGGCAGGGCGTATGGCCGACCAGGGGGCGGGGCCTGGAGAGAAGGATGGAATAAAAGAGCTGAGGGGCGGGGCCTATGTGAAGCTCAGGTATAGGGTGAGGCCTGGGGAGGTGAGGCCAGGAGTGGGGCCAGAGGTCAGAGGTAGGGCTGCCGACTCAGCGGGCGGGGTCTGCTGGCGCGGGGTCTGTGGGGTGGGCGGACAGAATCAGTGTGGGGTATGGGAGGTGCCGAGGCAGAAATAGATCTTTGGGCATTAGGGAGGGGAGGCCAGCTGTGAACAAAACAGAAAAAAATCTCTGTCCTTATGGAGTTGACATGGCGGGGAGAGACAGGAGATCAATAAAATAAATAAGTAAATTGTATGGCATATTAGATGGTAATAACTGTTAAAGAGAAAAATTCAGCAGGTAAGGGGTAGGGAGTGTTGGGGTTTTGCAGTTTAAGACAGAGCTGTCAGACAGGGTGACCTGGAGGAAGAGAGGAAGCCATGTGCAAAGGCCATGAGGTGGGCGGGTGTTTGGCATGTTCCAGAAACAGTCAGGTGGTGATTGGAGCAGGGAGGCTTGGGTGGGGGAGTGGGAGGAAATGAGGGCAGAGAGGTGACGAGGGCCAGGCCTTGGTGAGGACTTTGGCTTTGGGAGC 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Task1_train_27077 | A mutation on Chromosome 19 affecting RYR1 (ryanodine receptor 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; RYR1-related disorder | TGAGCAGGCTGGAGTAGTGGTTGGTGAGGAAAGAGAGGGGATGGGAACAGCTCGTGTGAGGCCTTGTGGGCCATGGGAGAGGTCTAGTTTTGTTTGTTTGTTTGTTTTTTGTAGAGACGAGGTCTCATTATATTACACAGGCTGGTCTCAAACTCCTGGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTAAAGTGAAGTGTGAGCCACTGCTCCTGGCCAGGTTCTAGTTTTTATCCTGAGTGAGATGGGCTCACAGGAGATTTTGAGCAGGGCAGGGAAGTGACCTGACGCAGGATCACAGAATTCTTAGGCTGTCTCTGGGAACAGACTACGGTCAGGGGACAGAGCCAGAGCAGGGAGACCAGAGAAGAGACTGCCATGATGTTACAAATGGGAGATGACAGTGGACAGGACCAGGAGGGGACTGTGGAGTTGGGAAGAGTAGTAGATTCTGGTGGGGTCCTGAGGGTAGAGCCAACAGGATTTGCTGACAGATTGGCTGTGGGGTGAGAGAAGGGGAGGGGTTGAGGATGATGCCATGATTTTTTGCCCCAAGCAACTGGAAGGATGGAAGTGCTGAAACAGCCTCATTGTCTGGAGTATCACCCAAGGTTTGTGGTCTCACAGCCACAGAGAACAAGGACGCAGACACACAAAGAGTGAGGTTAAGAGGGGACATTTAATAGGCGAAAGAAGGAGCTCTCTACTGCAGAGAAGGGTCCCAGAAAAATGGGTTGAAATGCAGGGGGTTCCATGGTGAAATGCAGGGGGCTTTACAGATGAGCTGGTGGGGAGGTGGTATCTGATTTACCTAGGGTGCAAAAGACTGGTTGGACCAGTTGTGCCATTTGCATAGGGCACAAATTTCTGGCTGCCTCCACCCTAAGCTTTTATTGTACAAGCGGGTCCTCTGCCTGAGCTGGCCATGTTGCCCATTCCTTTTCTGTACAACGTGGAAACAATAAATAAATAAATAACTAAATAAAGGGAAGATGGAGCCTCCATGTTGGACATGCGTAGCCCCAGGTATACCTTTTCTATCGGCACATTCCCCCATGCAAGCTTGTAGCTCGATTTTCCAGGCTGCTCTTTGTTAGAAAAGAAATTATTTTGGGGGCTGCTTTCCGTTAGAAAGGAAACTCTGCCGAGGACTCTGTTGCCCTTACTCTCTGCCTAAATAATTTTTTTCTACCTCTTGTATCAGTGCCATCAACCAAGTTAGGGGACAGTCAGTGTTGGCTCAGAAGGACAGGGATCTTAGGCTTTACTGCCAGTGCCTAGAACAGAGCCACTTACTACAGCCTTGCTGAATGGACAAGTAGGAATCCTTGGGGAGGCACTCGTTTGCAAAAACAGGCCTGTAGTTGAATACATGAGCCAAGGGCGTAGAGACGGGGCCTGGGCCATGTCCAAAGTGGGGACACGTGAGCATCATCAGCAGGTGGATGGTGTTTACAGCCGCAGACTGGATGAGTTCTGGGGAGGTCGGCTTGGGGTGAAGCTGGCAGCCATGATGGTCTCACCTCGTGGAAAGGTGGTCTGGCATTCTATCTGGGACAGGTTCAATTTGGGGGTTAGAGCTTTCTGGTCGGGGGGAATGTTAAGTCAGCAGTAGGTACAGGTGGAAAGGGTCTGGCCTGGAGACAGAGACAGGAAGGAGATAGGGATAGAGAGATAGAGAGGGAGAGGCAGGGACAGAGGTGAGAGAGATAGAGAGACAAAGACAGACAAAACCAAAAACAGGGACAGAGAGAGACAGAGAGGAGAGAGAGAATCAAAGACACAGAGGAGACAGATGACGGGGGACAGAAAAATGAGGAGGAATTTGCAGTGAGATTCTGCAGAGCAGGGAGGAGGGGGCAAGTGCAGAACTCAAGTCTAGACAGACGTCTTGGGGGCATGGCCCTGGGTGGCTGGGCCCACTCCAGACCTCTGTCTCCCCACTCCTAGGCCATGCTGCACCAGGAGGGCCACATGGACGACGCACTGTCGCTGACCCGCTGCCAGCAGGAGGAGTCCCAGGCCGCCCGCATGATCCACAGCACCAATGGCCTATACAACCAGTTCATCAAGTGAGCAACCTGCCCTCCCTGCTGGGGTGACTCCTGTGCTGTCCCATGCTCCGGGCATCCATACACTTGGCCTCTTTCATCTCTACCTCTGTTGCCCACACCCTTGTCTAACATATACATGGGCCAAGCGCAGTGGCTCACACCTGTAATCCCAAGACTTTGGGAGGGCAAGGCATGAGGATCGCTTGGGCCCAGGAGCTTGAGACCAGCCTGGGCAGCATAGGGAGACCCCGCCTCTACCAAAAAAAAAAAAAAAAAAAAAAAAATTAGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGAGAGGCTGAGGCGGGCAGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGAGCAATATAGTGAAACCCTGTCTCTATAAAAAAAATAACAAAATATTGGCCAGGTGTGGTGGCACGTGCCTGTAGTCCCAGCTGCATGGGAAGCTGAGGAAGGAGGATTGCTTGAGCCGAGGGGGCAGAGGCTGCAGTGAGCCACTATACTCCAGCTTCACTGACAGAGCGAGACCCTTCTCAAAAAATAATAACAATAATATACACATGACCCCTAACCTCTAAACTCCTGACCTCTGTACACTTGACCCCTAATCTGACCTTGACAACCATGATCACATTCCTGATCATCACCCAACTTTCACACCCCTGACACCCAGAGCCTGGACCCTGGACCTCTCCATCCCTGAGTTCCGGGACCCCCCTGTACCTACACAGGAGCGAGTCCCAGTCCCAGCTCTGCCCTTGGCCATTGTGTGACCTCGGACAAATGCTTTTCCCTCTCTGCGTCTCGGTCTCCCTCTCTGTAAAACGGGTGGGTCTGGGGGAGTCTTGCGGGAGTGAGGTTGCGGCAGTGACGTTGCGGCAGTTAGCGCTCCCAGCCGTGGCTGACAGCTGCGAGGTCCCTGTAGGAGCCTGGACAGCTTCAGCGGGAAGCCACGGGGCTCGGGGCCACCCGCTGGCACGGCGCTGCCCATCGAGGGCGTTATCCTGAGCCTGCAGGACCTCATCATCTACTTCGAGCCTCCCTCCGAGGACTTGCAGCACGAGGAGAAGCAGAGCAAGCTGCGAAGCCTGCGCAACCGCCAGAGCCTCTTCCAGGAGGAGGTGAGGACGTGGCGAGGGCGGAGCGGGGCCTGTGGGCCCAGGGGGCGGGACCACTGAGGGGCGGGGCCACGGCGCTGGGCGGGGCAGGGCCTGAGGGACCTGGGGAAGTAGGGTCTGAGAAGGGGGCGGGGCAGGAGAAGGAGCCGGACAGGAACCCCAGCCAGTGAGAACACGATGGGGCGGGGCCTTGGGAGGGGCGGGCCTGCTGTGCTGGTGGGCAGGACCTTTGGGAAGGGGCAGGGCGTATGGCCGACCAGGGGGCGGGGCCTGGAGAGAAGGATGGAATAAAAGAGCTGAGGGGCGGGGCCTATGTGAAGCTCAGGTATAGGGTGAGGCCTGGGGAGGTGAGGCCAGGAGTGGGGCCAGAGGTCAGAGGTAGGGCTGCCGACTCAGCGGGCGGGGTCTGCTGGCGCGGGGTCTGTGGGGTGGGCGGACAGAATCAGTGTGGGGTATGGGAGGTGCCGAGGCAGAAATAGATCTTTGGGCATTAGGGAGGGGAGGCCAGCTGTGAACAAAACAGAAAAAAATCTCTGTCCTTATGGAGTTGACATGGCGGGGAGAGACAGGAGATCAATAAAATAAATAAGTAAATTGTATGGCATATTAGATGGTAATAACTGTTAAAGAGAAAAATTCAGCAGGTAAGGGGTAGGGAGTGTTGGGGTTTTGCAGTTTAAGACAGAGCTGTCAGACAGGGTGACCTGGAGGAAGAGAGGAAGCCATGTGCAAAGGCCATGAGGTGGGCGGGTGTTTGGCATGTTCCAGAAACAGTCAGGTGGTGATTGGAGCAGGGAGGCTTGGGTGGGGGAGTGGGAGGAAATGAGGGCAGAGAGGTGACGAGGGCCAGGCCTTGGTGAGGACTTTGGCTTTGGGAGCCAC 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TGAGCAGGCTGGAGTAGTGGTTGGTGAGGAAAGAGAGGGGATGGGAACAGCTCGTGTGAGGCCTTGTGGGCCATGGGAGAGGTCTAGTTTTGTTTGTTTGTTTGTTTTTTGTAGAGACGAGGTCTCATTATATTACACAGGCTGGTCTCAAACTCCTGGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTAAAGTGAAGTGTGAGCCACTGCTCCTGGCCAGGTTCTAGTTTTTATCCTGAGTGAGATGGGCTCACAGGAGATTTTGAGCAGGGCAGGGAAGTGACCTGACGCAGGATCACAGAATTCTTAGGCTGTCTCTGGGAACAGACTACGGTCAGGGGACAGAGCCAGAGCAGGGAGACCAGAGAAGAGACTGCCATGATGTTACAAATGGGAGATGACAGTGGACAGGACCAGGAGGGGACTGTGGAGTTGGGAAGAGTAGTAGATTCTGGTGGGGTCCTGAGGGTAGAGCCAACAGGATTTGCTGACAGATTGGCTGTGGGGTGAGAGAAGGGGAGGGGTTGAGGATGATGCCATGATTTTTTGCCCCAAGCAACTGGAAGGATGGAAGTGCTGAAACAGCCTCATTGTCTGGAGTATCACCCAAGGTTTGTGGTCTCACAGCCACAGAGAACAAGGACGCAGACACACAAAGAGTGAGGTTAAGAGGGGACATTTAATAGGCGAAAGAAGGAGCTCTCTACTGCAGAGAAGGGTCCCAGAAAAATGGGTTGAAATGCAGGGGGTTCCATGGTGAAATGCAGGGGGCTTTACAGATGAGCTGGTGGGGAGGTGGTATCTGATTTACCTAGGGTGCAAAAGACTGGTTGGACCAGTTGTGCCATTTGCATAGGGCACAAATTTCTGGCTGCCTCCACCCTAAGCTTTTATTGTACAAGCGGGTCCTCTGCCTGAGCTGGCCATGTTGCCCATTCCTTTTCTGTACAACGTGGAAACAATAAATAAATAAATAACTAAATAAAGGGAAGATGGAGCCTCCATGTTGGACATGCGTAGCCCCAGGTATACCTTTTCTATCGGCACATTCCCCCATGCAAGCTTGTAGCTCGATTTTCCAGGCTGCTCTTTGTTAGAAAAGAAATTATTTTGGGGGCTGCTTTCCGTTAGAAAGGAAACTCTGCCGAGGACTCTGTTGCCCTTACTCTCTGCCTAAATAATTTTTTTCTACCTCTTGTATCAGTGCCATCAACCAAGTTAGGGGACAGTCAGTGTTGGCTCAGAAGGACAGGGATCTTAGGCTTTACTGCCAGTGCCTAGAACAGAGCCACTTACTACAGCCTTGCTGAATGGACAAGTAGGAATCCTTGGGGAGGCACTCGTTTGCAAAAACAGGCCTGTAGTTGAATACATGAGCCAAGGGCGTAGAGACGGGGCCTGGGCCATGTCCAAAGTGGGGACACGTGAGCATCATCAGCAGGTGGATGGTGTTTACAGCCGCAGACTGGATGAGTTCTGGGGAGGTCGGCTTGGGGTGAAGCTGGCAGCCATGATGGTCTCACCTCGTGGAAAGGTGGTCTGGCATTCTATCTGGGACAGGTTCAATTTGGGGGTTAGAGCTTTCTGGTCGGGGGGAATGTTAAGTCAGCAGTAGGTACAGGTGGAAAGGGTCTGGCCTGGAGACAGAGACAGGAAGGAGATAGGGATAGAGAGATAGAGAGGGAGAGGCAGGGACAGAGGTGAGAGAGATAGAGAGACAAAGACAGACAAAACCAAAAACAGGGACAGAGAGAGACAGAGAGGAGAGAGAGAATCAAAGACACAGAGGAGACAGATGACGGGGGACAGAAAAATGAGGAGGAATTTGCAGTGAGATTCTGCAGAGCAGGGAGGAGGGGGCAAGTGCAGAACTCAAGTCTAGACAGACGTCTTGGGGGCATGGCCCTGGGTGGCTGGGCCCACTCCAGACCTCTGTCTCCCCACTCCTAGGCCATGCTGCACCAGGAGGGCCACATGGACGACGCACTGTCGCTGACCCGCTGCCAGCAGGAGGAGTCCCAGGCCGCCCGCACGATCCACAGCACCAATGGCCTATACAACCAGTTCATCAAGTGAGCAACCTGCCCTCCCTGCTGGGGTGACTCCTGTGCTGTCCCATGCTCCGGGCATCCATACACTTGGCCTCTTTCATCTCTACCTCTGTTGCCCACACCCTTGTCTAACATATACATGGGCCAAGCGCAGTGGCTCACACCTGTAATCCCAAGACTTTGGGAGGGCAAGGCATGAGGATCGCTTGGGCCCAGGAGCTTGAGACCAGCCTGGGCAGCATAGGGAGACCCCGCCTCTACCAAAAAAAAAAAAAAAAAAAAAAAAATTAGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGAGAGGCTGAGGCGGGCAGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGAGCAATATAGTGAAACCCTGTCTCTATAAAAAAAATAACAAAATATTGGCCAGGTGTGGTGGCACGTGCCTGTAGTCCCAGCTGCATGGGAAGCTGAGGAAGGAGGATTGCTTGAGCCGAGGGGGCAGAGGCTGCAGTGAGCCACTATACTCCAGCTTCACTGACAGAGCGAGACCCTTCTCAAAAAATAATAACAATAATATACACATGACCCCTAACCTCTAAACTCCTGACCTCTGTACACTTGACCCCTAATCTGACCTTGACAACCATGATCACATTCCTGATCATCACCCAACTTTCACACCCCTGACACCCAGAGCCTGGACCCTGGACCTCTCCATCCCTGAGTTCCGGGACCCCCCTGTACCTACACAGGAGCGAGTCCCAGTCCCAGCTCTGCCCTTGGCCATTGTGTGACCTCGGACAAATGCTTTTCCCTCTCTGCGTCTCGGTCTCCCTCTCTGTAAAACGGGTGGGTCTGGGGGAGTCTTGCGGGAGTGAGGTTGCGGCAGTGACGTTGCGGCAGTTAGCGCTCCCAGCCGTGGCTGACAGCTGCGAGGTCCCTGTAGGAGCCTGGACAGCTTCAGCGGGAAGCCACGGGGCTCGGGGCCACCCGCTGGCACGGCGCTGCCCATCGAGGGCGTTATCCTGAGCCTGCAGGACCTCATCATCTACTTCGAGCCTCCCTCCGAGGACTTGCAGCACGAGGAGAAGCAGAGCAAGCTGCGAAGCCTGCGCAACCGCCAGAGCCTCTTCCAGGAGGAGGTGAGGACGTGGCGAGGGCGGAGCGGGGCCTGTGGGCCCAGGGGGCGGGACCACTGAGGGGCGGGGCCACGGCGCTGGGCGGGGCAGGGCCTGAGGGACCTGGGGAAGTAGGGTCTGAGAAGGGGGCGGGGCAGGAGAAGGAGCCGGACAGGAACCCCAGCCAGTGAGAACACGATGGGGCGGGGCCTTGGGAGGGGCGGGCCTGCTGTGCTGGTGGGCAGGACCTTTGGGAAGGGGCAGGGCGTATGGCCGACCAGGGGGCGGGGCCTGGAGAGAAGGATGGAATAAAAGAGCTGAGGGGCGGGGCCTATGTGAAGCTCAGGTATAGGGTGAGGCCTGGGGAGGTGAGGCCAGGAGTGGGGCCAGAGGTCAGAGGTAGGGCTGCCGACTCAGCGGGCGGGGTCTGCTGGCGCGGGGTCTGTGGGGTGGGCGGACAGAATCAGTGTGGGGTATGGGAGGTGCCGAGGCAGAAATAGATCTTTGGGCATTAGGGAGGGGAGGCCAGCTGTGAACAAAACAGAAAAAAATCTCTGTCCTTATGGAGTTGACATGGCGGGGAGAGACAGGAGATCAATAAAATAAATAAGTAAATTGTATGGCATATTAGATGGTAATAACTGTTAAAGAGAAAAATTCAGCAGGTAAGGGGTAGGGAGTGTTGGGGTTTTGCAGTTTAAGACAGAGCTGTCAGACAGGGTGACCTGGAGGAAGAGAGGAAGCCATGTGCAAAGGCCATGAGGTGGGCGGGTGTTTGGCATGTTCCAGAAACAGTCAGGTGGTGATTGGAGCAGGGAGGCTTGGGTGGGGGAGTGGGAGGAAATGAGGGCAGAGAGGTGACGAGGGCCAGGCCTTGGTGAGGACTTTGGCTTTGGGAGCCAC 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Task1_train_27078 | A variant was discovered in gene RYR1 (ryanodine receptor 1), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Malignant hyperthermia, susceptibility to, 1 | ATGGAGCCTCCATGTTGGACATGCGTAGCCCCAGGTATACCTTTTCTATCGGCACATTCCCCCATGCAAGCTTGTAGCTCGATTTTCCAGGCTGCTCTTTGTTAGAAAAGAAATTATTTTGGGGGCTGCTTTCCGTTAGAAAGGAAACTCTGCCGAGGACTCTGTTGCCCTTACTCTCTGCCTAAATAATTTTTTTCTACCTCTTGTATCAGTGCCATCAACCAAGTTAGGGGACAGTCAGTGTTGGCTCAGAAGGACAGGGATCTTAGGCTTTACTGCCAGTGCCTAGAACAGAGCCACTTACTACAGCCTTGCTGAATGGACAAGTAGGAATCCTTGGGGAGGCACTCGTTTGCAAAAACAGGCCTGTAGTTGAATACATGAGCCAAGGGCGTAGAGACGGGGCCTGGGCCATGTCCAAAGTGGGGACACGTGAGCATCATCAGCAGGTGGATGGTGTTTACAGCCGCAGACTGGATGAGTTCTGGGGAGGTCGGCTTGGGGTGAAGCTGGCAGCCATGATGGTCTCACCTCGTGGAAAGGTGGTCTGGCATTCTATCTGGGACAGGTTCAATTTGGGGGTTAGAGCTTTCTGGTCGGGGGGAATGTTAAGTCAGCAGTAGGTACAGGTGGAAAGGGTCTGGCCTGGAGACAGAGACAGGAAGGAGATAGGGATAGAGAGATAGAGAGGGAGAGGCAGGGACAGAGGTGAGAGAGATAGAGAGACAAAGACAGACAAAACCAAAAACAGGGACAGAGAGAGACAGAGAGGAGAGAGAGAATCAAAGACACAGAGGAGACAGATGACGGGGGACAGAAAAATGAGGAGGAATTTGCAGTGAGATTCTGCAGAGCAGGGAGGAGGGGGCAAGTGCAGAACTCAAGTCTAGACAGACGTCTTGGGGGCATGGCCCTGGGTGGCTGGGCCCACTCCAGACCTCTGTCTCCCCACTCCTAGGCCATGCTGCACCAGGAGGGCCACATGGACGACGCACTGTCGCTGACCCGCTGCCAGCAGGAGGAGTCCCAGGCCGCCCGCATGATCCACAGCACCAATGGCCTATACAACCAGTTCATCAAGTGAGCAACCTGCCCTCCCTGCTGGGGTGACTCCTGTGCTGTCCCATGCTCCGGGCATCCATACACTTGGCCTCTTTCATCTCTACCTCTGTTGCCCACACCCTTGTCTAACATATACATGGGCCAAGCGCAGTGGCTCACACCTGTAATCCCAAGACTTTGGGAGGGCAAGGCATGAGGATCGCTTGGGCCCAGGAGCTTGAGACCAGCCTGGGCAGCATAGGGAGACCCCGCCTCTACCAAAAAAAAAAAAAAAAAAAAAAAAATTAGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGAGAGGCTGAGGCGGGCAGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGAGCAATATAGTGAAACCCTGTCTCTATAAAAAAAATAACAAAATATTGGCCAGGTGTGGTGGCACGTGCCTGTAGTCCCAGCTGCATGGGAAGCTGAGGAAGGAGGATTGCTTGAGCCGAGGGGGCAGAGGCTGCAGTGAGCCACTATACTCCAGCTTCACTGACAGAGCGAGACCCTTCTCAAAAAATAATAACAATAATATACACATGACCCCTAACCTCTAAACTCCTGACCTCTGTACACTTGACCCCTAATCTGACCTTGACAACCATGATCACATTCCTGATCATCACCCAACTTTCACACCCCTGACACCCAGAGCCTGGACCCTGGACCTCTCCATCCCTGAGTTCCGGGACCCCCCTGTACCTACACAGGAGCGAGTCCCAGTCCCAGCTCTGCCCTTGGCCATTGTGTGACCTCGGACAAATGCTTTTCCCTCTCTGCGTCTCGGTCTCCCTCTCTGTAAAACGGGTGGGTCTGGGGGAGTCTTGCGGGAGTGAGGTTGCGGCAGTGACGTTGCGGCAGTTAGCGCTCCCAGCCGTGGCTGACAGCTGCGAGGTCCCTGTAGGAGCCTGGACAGCTTCAGCGGGAAGCCACGGGGCTCGGGGCCACCCGCTGGCACGGCGCTGCCCATCGAGGGCGTTATCCTGAGCCTGCAGGACCTCATCATCTACTTCGAGCCTCCCTCCGAGGACTTGCAGCACGAGGAGAAGCAGAGCAAGCTGCGAAGCCTGCGCAACCGCCAGAGCCTCTTCCAGGAGGAGGTGAGGACGTGGCGAGGGCGGAGCGGGGCCTGTGGGCCCAGGGGGCGGGACCACTGAGGGGCGGGGCCACGGCGCTGGGCGGGGCAGGGCCTGAGGGACCTGGGGAAGTAGGGTCTGAGAAGGGGGCGGGGCAGGAGAAGGAGCCGGACAGGAACCCCAGCCAGTGAGAACACGATGGGGCGGGGCCTTGGGAGGGGCGGGCCTGCTGTGCTGGTGGGCAGGACCTTTGGGAAGGGGCAGGGCGTATGGCCGACCAGGGGGCGGGGCCTGGAGAGAAGGATGGAATAAAAGAGCTGAGGGGCGGGGCCTATGTGAAGCTCAGGTATAGGGTGAGGCCTGGGGAGGTGAGGCCAGGAGTGGGGCCAGAGGTCAGAGGTAGGGCTGCCGACTCAGCGGGCGGGGTCTGCTGGCGCGGGGTCTGTGGGGTGGGCGGACAGAATCAGTGTGGGGTATGGGAGGTGCCGAGGCAGAAATAGATCTTTGGGCATTAGGGAGGGGAGGCCAGCTGTGAACAAAACAGAAAAAAATCTCTGTCCTTATGGAGTTGACATGGCGGGGAGAGACAGGAGATCAATAAAATAAATAAGTAAATTGTATGGCATATTAGATGGTAATAACTGTTAAAGAGAAAAATTCAGCAGGTAAGGGGTAGGGAGTGTTGGGGTTTTGCAGTTTAAGACAGAGCTGTCAGACAGGGTGACCTGGAGGAAGAGAGGAAGCCATGTGCAAAGGCCATGAGGTGGGCGGGTGTTTGGCATGTTCCAGAAACAGTCAGGTGGTGATTGGAGCAGGGAGGCTTGGGTGGGGGAGTGGGAGGAAATGAGGGCAGAGAGGTGACGAGGGCCAGGCCTTGGTGAGGACTTTGGCTTTGGGAGCCACAGGAGGTTTTGGTCCTCTACAGTCACAGCTAGTTAGTGGCAGAGCCGGTCAGTGTGATGCCACTTTGGTTGTGCTCTCCACTTTGAGGCACTGCTCCTCTCACTACTGATCTAGGCCCCAGGATGCAGATACAACAATTGTTTTGTTTTGTCTTGTTTTTTGAAACAGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAATGATTCTCCTGCCTCCTCAGCCTCCCAAGTAGCTGAAACTACAGGTGTGAGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTCGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCCACCTCCCAAAGAGCTGGGATTACAGGCGTGAGCCACTGCACCCAGACAGTTTTGTCCTTTTTGTTGATTTCACTGTTTATAATGTCTCCCAAGTGTAGTGCTGAAGTGCTGTCTAGCTTTCCTAAGTGCAAGAAAGCTATGATGTGCCTTACTGAGAAAATATGTGTTAGATAAGCTTAATTAAGGCATGAGTTATAGTACTGTTGGCTGTGAATTTAATGTTAATGACTCAACAATATATATTAAATAACTGTCTTTAAACAGAAACATAAAAAACAAGGTTATGTAATAAGTGGTTGATGAAAATACTGTCACAGACTCTCAGGGACTCCCTGTATTTCCCCTAGAAGCAGTGGTTCAGTATTTGATAATTCAGTCTTCATAATCACTTTATAGAACATAACTATGAATAATGAGAATTGATTGTATATGTTTTATGTACTTTTCTGTATGTATATTATGATTCACAATGAAATAAGAAAAAATATTAAAATGTAAAAAAAAAAAGAAAAGAAAAGATAAAGTGAGAAAAATCTTTCTGATGGTTGGTGTGGAGAATGAACTGGGCCTCTCCAGTTGGTGGGAGTGGGGTTCCAGTTGGATGGTTGG 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ATGGAGCCTCCATGTTGGACATGCGTAGCCCCAGGTATACCTTTTCTATCGGCACATTCCCCCATGCAAGCTTGTAGCTCGATTTTCCAGGCTGCTCTTTGTTAGAAAAGAAATTATTTTGGGGGCTGCTTTCCGTTAGAAAGGAAACTCTGCCGAGGACTCTGTTGCCCTTACTCTCTGCCTAAATAATTTTTTTCTACCTCTTGTATCAGTGCCATCAACCAAGTTAGGGGACAGTCAGTGTTGGCTCAGAAGGACAGGGATCTTAGGCTTTACTGCCAGTGCCTAGAACAGAGCCACTTACTACAGCCTTGCTGAATGGACAAGTAGGAATCCTTGGGGAGGCACTCGTTTGCAAAAACAGGCCTGTAGTTGAATACATGAGCCAAGGGCGTAGAGACGGGGCCTGGGCCATGTCCAAAGTGGGGACACGTGAGCATCATCAGCAGGTGGATGGTGTTTACAGCCGCAGACTGGATGAGTTCTGGGGAGGTCGGCTTGGGGTGAAGCTGGCAGCCATGATGGTCTCACCTCGTGGAAAGGTGGTCTGGCATTCTATCTGGGACAGGTTCAATTTGGGGGTTAGAGCTTTCTGGTCGGGGGGAATGTTAAGTCAGCAGTAGGTACAGGTGGAAAGGGTCTGGCCTGGAGACAGAGACAGGAAGGAGATAGGGATAGAGAGATAGAGAGGGAGAGGCAGGGACAGAGGTGAGAGAGATAGAGAGACAAAGACAGACAAAACCAAAAACAGGGACAGAGAGAGACAGAGAGGAGAGAGAGAATCAAAGACACAGAGGAGACAGATGACGGGGGACAGAAAAATGAGGAGGAATTTGCAGTGAGATTCTGCAGAGCAGGGAGGAGGGGGCAAGTGCAGAACTCAAGTCTAGACAGACGTCTTGGGGGCATGGCCCTGGGTGGCTGGGCCCACTCCAGACCTCTGTCTCCCCACTCCTAGGCCATGCTGCACCAGGAGGGCCACATGGACGACGCACTGTCGCTGACCCGCTGCCAGCAGGAGGAGTCCCAGGCCGCCCGCATGATCCACAGCACCAATGGCCTATACAACCAGTTCATCAAGTGAGCAACCTGCCCTCCCTGCTGGGGTGACTCCTGTGCTGTCCCATGCTCCGGGCATCCATACACTTGGCCTCTTTCATCTCTACCTCTGTTGCCCACACCCTTGTCTAACATATACATGGGCCAAGCGCAGTGGCTCACACCTGTAATCCCAAGACTTTGGGAGGGCAAGGCATGAGGATCGCTTGGGCCCAGGAGCTTGAGACCAGCCTGGGCAGCATAGGGAGACCCCGCCTCTACCAAAAAAAAAAAAAAAAAAAAAAAAATTAGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGAGAGGCTGAGGCGGGCAGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGAGCAATATAGTGAAACCCTGTCTCTATAAAAAAAATAACAAAATATTGGCCAGGTGTGGTGGCACGTGCCTGTAGTCCCAGCTGCATGGGAAGCTGAGGAAGGAGGATTGCTTGAGCCGAGGGGGCAGAGGCTGCAGTGAGCCACTATACTCCAGCTTCACTGACAGAGCGAGACCCTTCTCAAAAAATAATAACAATAATATACACATGACCCCTAACCTCTAAACTCCTGACCTCTGTACACTTGACCCCTAATCTGACCTTGACAACCATGATCACATTCCTGATCATCACCCAACTTTCACACCCCTGACACCCAGAGCCTGGACCCTGGACCTCTCCATCCCTGAGTTCCGGGACCCCCCTGTACCTACACAGGAGCGAGTCCCAGTCCCAGCTCTGCCCTTGGCCATTGTGTGACCTCGGACAAATGCTTTTCCCTCTCTGCGTCTCGGTCTCCCTCTCTGTAAAACGGGTGGGTCTGGGGGAGTCTTGCGGGAGTGAGGTTGCGGCAGTGACGTTGCGGCAGTTAGCGCTCCCAGCCGTGGCTGACAGCTGCGAGGTCCCTGTAGGAGCCTGGACAGCTTCAGCGGGAAGCCACGGGGCTTGGGGCCACCCGCTGGCACGGCGCTGCCCATCGAGGGCGTTATCCTGAGCCTGCAGGACCTCATCATCTACTTCGAGCCTCCCTCCGAGGACTTGCAGCACGAGGAGAAGCAGAGCAAGCTGCGAAGCCTGCGCAACCGCCAGAGCCTCTTCCAGGAGGAGGTGAGGACGTGGCGAGGGCGGAGCGGGGCCTGTGGGCCCAGGGGGCGGGACCACTGAGGGGCGGGGCCACGGCGCTGGGCGGGGCAGGGCCTGAGGGACCTGGGGAAGTAGGGTCTGAGAAGGGGGCGGGGCAGGAGAAGGAGCCGGACAGGAACCCCAGCCAGTGAGAACACGATGGGGCGGGGCCTTGGGAGGGGCGGGCCTGCTGTGCTGGTGGGCAGGACCTTTGGGAAGGGGCAGGGCGTATGGCCGACCAGGGGGCGGGGCCTGGAGAGAAGGATGGAATAAAAGAGCTGAGGGGCGGGGCCTATGTGAAGCTCAGGTATAGGGTGAGGCCTGGGGAGGTGAGGCCAGGAGTGGGGCCAGAGGTCAGAGGTAGGGCTGCCGACTCAGCGGGCGGGGTCTGCTGGCGCGGGGTCTGTGGGGTGGGCGGACAGAATCAGTGTGGGGTATGGGAGGTGCCGAGGCAGAAATAGATCTTTGGGCATTAGGGAGGGGAGGCCAGCTGTGAACAAAACAGAAAAAAATCTCTGTCCTTATGGAGTTGACATGGCGGGGAGAGACAGGAGATCAATAAAATAAATAAGTAAATTGTATGGCATATTAGATGGTAATAACTGTTAAAGAGAAAAATTCAGCAGGTAAGGGGTAGGGAGTGTTGGGGTTTTGCAGTTTAAGACAGAGCTGTCAGACAGGGTGACCTGGAGGAAGAGAGGAAGCCATGTGCAAAGGCCATGAGGTGGGCGGGTGTTTGGCATGTTCCAGAAACAGTCAGGTGGTGATTGGAGCAGGGAGGCTTGGGTGGGGGAGTGGGAGGAAATGAGGGCAGAGAGGTGACGAGGGCCAGGCCTTGGTGAGGACTTTGGCTTTGGGAGCCACAGGAGGTTTTGGTCCTCTACAGTCACAGCTAGTTAGTGGCAGAGCCGGTCAGTGTGATGCCACTTTGGTTGTGCTCTCCACTTTGAGGCACTGCTCCTCTCACTACTGATCTAGGCCCCAGGATGCAGATACAACAATTGTTTTGTTTTGTCTTGTTTTTTGAAACAGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAATGATTCTCCTGCCTCCTCAGCCTCCCAAGTAGCTGAAACTACAGGTGTGAGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTCGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCCACCTCCCAAAGAGCTGGGATTACAGGCGTGAGCCACTGCACCCAGACAGTTTTGTCCTTTTTGTTGATTTCACTGTTTATAATGTCTCCCAAGTGTAGTGCTGAAGTGCTGTCTAGCTTTCCTAAGTGCAAGAAAGCTATGATGTGCCTTACTGAGAAAATATGTGTTAGATAAGCTTAATTAAGGCATGAGTTATAGTACTGTTGGCTGTGAATTTAATGTTAATGACTCAACAATATATATTAAATAACTGTCTTTAAACAGAAACATAAAAAACAAGGTTATGTAATAAGTGGTTGATGAAAATACTGTCACAGACTCTCAGGGACTCCCTGTATTTCCCCTAGAAGCAGTGGTTCAGTATTTGATAATTCAGTCTTCATAATCACTTTATAGAACATAACTATGAATAATGAGAATTGATTGTATATGTTTTATGTACTTTTCTGTATGTATATTATGATTCACAATGAAATAAGAAAAAATATTAAAATGTAAAAAAAAAAAGAAAAGAAAAGATAAAGTGAGAAAAATCTTTCTGATGGTTGGTGTGGAGAATGAACTGGGCCTCTCCAGTTGGTGGGAGTGGGGTTCCAGTTGGATGGTTGG 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Task1_train_27079 | Here is a variant affecting RYR1 (ryanodine receptor 1) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; RYR1-related disorder | CATGCAAGCTTGTAGCTCGATTTTCCAGGCTGCTCTTTGTTAGAAAAGAAATTATTTTGGGGGCTGCTTTCCGTTAGAAAGGAAACTCTGCCGAGGACTCTGTTGCCCTTACTCTCTGCCTAAATAATTTTTTTCTACCTCTTGTATCAGTGCCATCAACCAAGTTAGGGGACAGTCAGTGTTGGCTCAGAAGGACAGGGATCTTAGGCTTTACTGCCAGTGCCTAGAACAGAGCCACTTACTACAGCCTTGCTGAATGGACAAGTAGGAATCCTTGGGGAGGCACTCGTTTGCAAAAACAGGCCTGTAGTTGAATACATGAGCCAAGGGCGTAGAGACGGGGCCTGGGCCATGTCCAAAGTGGGGACACGTGAGCATCATCAGCAGGTGGATGGTGTTTACAGCCGCAGACTGGATGAGTTCTGGGGAGGTCGGCTTGGGGTGAAGCTGGCAGCCATGATGGTCTCACCTCGTGGAAAGGTGGTCTGGCATTCTATCTGGGACAGGTTCAATTTGGGGGTTAGAGCTTTCTGGTCGGGGGGAATGTTAAGTCAGCAGTAGGTACAGGTGGAAAGGGTCTGGCCTGGAGACAGAGACAGGAAGGAGATAGGGATAGAGAGATAGAGAGGGAGAGGCAGGGACAGAGGTGAGAGAGATAGAGAGACAAAGACAGACAAAACCAAAAACAGGGACAGAGAGAGACAGAGAGGAGAGAGAGAATCAAAGACACAGAGGAGACAGATGACGGGGGACAGAAAAATGAGGAGGAATTTGCAGTGAGATTCTGCAGAGCAGGGAGGAGGGGGCAAGTGCAGAACTCAAGTCTAGACAGACGTCTTGGGGGCATGGCCCTGGGTGGCTGGGCCCACTCCAGACCTCTGTCTCCCCACTCCTAGGCCATGCTGCACCAGGAGGGCCACATGGACGACGCACTGTCGCTGACCCGCTGCCAGCAGGAGGAGTCCCAGGCCGCCCGCATGATCCACAGCACCAATGGCCTATACAACCAGTTCATCAAGTGAGCAACCTGCCCTCCCTGCTGGGGTGACTCCTGTGCTGTCCCATGCTCCGGGCATCCATACACTTGGCCTCTTTCATCTCTACCTCTGTTGCCCACACCCTTGTCTAACATATACATGGGCCAAGCGCAGTGGCTCACACCTGTAATCCCAAGACTTTGGGAGGGCAAGGCATGAGGATCGCTTGGGCCCAGGAGCTTGAGACCAGCCTGGGCAGCATAGGGAGACCCCGCCTCTACCAAAAAAAAAAAAAAAAAAAAAAAAATTAGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGAGAGGCTGAGGCGGGCAGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGAGCAATATAGTGAAACCCTGTCTCTATAAAAAAAATAACAAAATATTGGCCAGGTGTGGTGGCACGTGCCTGTAGTCCCAGCTGCATGGGAAGCTGAGGAAGGAGGATTGCTTGAGCCGAGGGGGCAGAGGCTGCAGTGAGCCACTATACTCCAGCTTCACTGACAGAGCGAGACCCTTCTCAAAAAATAATAACAATAATATACACATGACCCCTAACCTCTAAACTCCTGACCTCTGTACACTTGACCCCTAATCTGACCTTGACAACCATGATCACATTCCTGATCATCACCCAACTTTCACACCCCTGACACCCAGAGCCTGGACCCTGGACCTCTCCATCCCTGAGTTCCGGGACCCCCCTGTACCTACACAGGAGCGAGTCCCAGTCCCAGCTCTGCCCTTGGCCATTGTGTGACCTCGGACAAATGCTTTTCCCTCTCTGCGTCTCGGTCTCCCTCTCTGTAAAACGGGTGGGTCTGGGGGAGTCTTGCGGGAGTGAGGTTGCGGCAGTGACGTTGCGGCAGTTAGCGCTCCCAGCCGTGGCTGACAGCTGCGAGGTCCCTGTAGGAGCCTGGACAGCTTCAGCGGGAAGCCACGGGGCTCGGGGCCACCCGCTGGCACGGCGCTGCCCATCGAGGGCGTTATCCTGAGCCTGCAGGACCTCATCATCTACTTCGAGCCTCCCTCCGAGGACTTGCAGCACGAGGAGAAGCAGAGCAAGCTGCGAAGCCTGCGCAACCGCCAGAGCCTCTTCCAGGAGGAGGTGAGGACGTGGCGAGGGCGGAGCGGGGCCTGTGGGCCCAGGGGGCGGGACCACTGAGGGGCGGGGCCACGGCGCTGGGCGGGGCAGGGCCTGAGGGACCTGGGGAAGTAGGGTCTGAGAAGGGGGCGGGGCAGGAGAAGGAGCCGGACAGGAACCCCAGCCAGTGAGAACACGATGGGGCGGGGCCTTGGGAGGGGCGGGCCTGCTGTGCTGGTGGGCAGGACCTTTGGGAAGGGGCAGGGCGTATGGCCGACCAGGGGGCGGGGCCTGGAGAGAAGGATGGAATAAAAGAGCTGAGGGGCGGGGCCTATGTGAAGCTCAGGTATAGGGTGAGGCCTGGGGAGGTGAGGCCAGGAGTGGGGCCAGAGGTCAGAGGTAGGGCTGCCGACTCAGCGGGCGGGGTCTGCTGGCGCGGGGTCTGTGGGGTGGGCGGACAGAATCAGTGTGGGGTATGGGAGGTGCCGAGGCAGAAATAGATCTTTGGGCATTAGGGAGGGGAGGCCAGCTGTGAACAAAACAGAAAAAAATCTCTGTCCTTATGGAGTTGACATGGCGGGGAGAGACAGGAGATCAATAAAATAAATAAGTAAATTGTATGGCATATTAGATGGTAATAACTGTTAAAGAGAAAAATTCAGCAGGTAAGGGGTAGGGAGTGTTGGGGTTTTGCAGTTTAAGACAGAGCTGTCAGACAGGGTGACCTGGAGGAAGAGAGGAAGCCATGTGCAAAGGCCATGAGGTGGGCGGGTGTTTGGCATGTTCCAGAAACAGTCAGGTGGTGATTGGAGCAGGGAGGCTTGGGTGGGGGAGTGGGAGGAAATGAGGGCAGAGAGGTGACGAGGGCCAGGCCTTGGTGAGGACTTTGGCTTTGGGAGCCACAGGAGGTTTTGGTCCTCTACAGTCACAGCTAGTTAGTGGCAGAGCCGGTCAGTGTGATGCCACTTTGGTTGTGCTCTCCACTTTGAGGCACTGCTCCTCTCACTACTGATCTAGGCCCCAGGATGCAGATACAACAATTGTTTTGTTTTGTCTTGTTTTTTGAAACAGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAATGATTCTCCTGCCTCCTCAGCCTCCCAAGTAGCTGAAACTACAGGTGTGAGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTCGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCCACCTCCCAAAGAGCTGGGATTACAGGCGTGAGCCACTGCACCCAGACAGTTTTGTCCTTTTTGTTGATTTCACTGTTTATAATGTCTCCCAAGTGTAGTGCTGAAGTGCTGTCTAGCTTTCCTAAGTGCAAGAAAGCTATGATGTGCCTTACTGAGAAAATATGTGTTAGATAAGCTTAATTAAGGCATGAGTTATAGTACTGTTGGCTGTGAATTTAATGTTAATGACTCAACAATATATATTAAATAACTGTCTTTAAACAGAAACATAAAAAACAAGGTTATGTAATAAGTGGTTGATGAAAATACTGTCACAGACTCTCAGGGACTCCCTGTATTTCCCCTAGAAGCAGTGGTTCAGTATTTGATAATTCAGTCTTCATAATCACTTTATAGAACATAACTATGAATAATGAGAATTGATTGTATATGTTTTATGTACTTTTCTGTATGTATATTATGATTCACAATGAAATAAGAAAAAATATTAAAATGTAAAAAAAAAAAGAAAAGAAAAGATAAAGTGAGAAAAATCTTTCTGATGGTTGGTGTGGAGAATGAACTGGGCCTCTCCAGTTGGTGGGAGTGGGGTTCCAGTTGGATGGTTGGTGGGAGTGGGGTTCCTGGAAGTGAGTAGGATGGAGAGAAAAGTGCAGGAAGGGGAAGTATAA 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CATGCAAGCTTGTAGCTCGATTTTCCAGGCTGCTCTTTGTTAGAAAAGAAATTATTTTGGGGGCTGCTTTCCGTTAGAAAGGAAACTCTGCCGAGGACTCTGTTGCCCTTACTCTCTGCCTAAATAATTTTTTTCTACCTCTTGTATCAGTGCCATCAACCAAGTTAGGGGACAGTCAGTGTTGGCTCAGAAGGACAGGGATCTTAGGCTTTACTGCCAGTGCCTAGAACAGAGCCACTTACTACAGCCTTGCTGAATGGACAAGTAGGAATCCTTGGGGAGGCACTCGTTTGCAAAAACAGGCCTGTAGTTGAATACATGAGCCAAGGGCGTAGAGACGGGGCCTGGGCCATGTCCAAAGTGGGGACACGTGAGCATCATCAGCAGGTGGATGGTGTTTACAGCCGCAGACTGGATGAGTTCTGGGGAGGTCGGCTTGGGGTGAAGCTGGCAGCCATGATGGTCTCACCTCGTGGAAAGGTGGTCTGGCATTCTATCTGGGACAGGTTCAATTTGGGGGTTAGAGCTTTCTGGTCGGGGGGAATGTTAAGTCAGCAGTAGGTACAGGTGGAAAGGGTCTGGCCTGGAGACAGAGACAGGAAGGAGATAGGGATAGAGAGATAGAGAGGGAGAGGCAGGGACAGAGGTGAGAGAGATAGAGAGACAAAGACAGACAAAACCAAAAACAGGGACAGAGAGAGACAGAGAGGAGAGAGAGAATCAAAGACACAGAGGAGACAGATGACGGGGGACAGAAAAATGAGGAGGAATTTGCAGTGAGATTCTGCAGAGCAGGGAGGAGGGGGCAAGTGCAGAACTCAAGTCTAGACAGACGTCTTGGGGGCATGGCCCTGGGTGGCTGGGCCCACTCCAGACCTCTGTCTCCCCACTCCTAGGCCATGCTGCACCAGGAGGGCCACATGGACGACGCACTGTCGCTGACCCGCTGCCAGCAGGAGGAGTCCCAGGCCGCCCGCATGATCCACAGCACCAATGGCCTATACAACCAGTTCATCAAGTGAGCAACCTGCCCTCCCTGCTGGGGTGACTCCTGTGCTGTCCCATGCTCCGGGCATCCATACACTTGGCCTCTTTCATCTCTACCTCTGTTGCCCACACCCTTGTCTAACATATACATGGGCCAAGCGCAGTGGCTCACACCTGTAATCCCAAGACTTTGGGAGGGCAAGGCATGAGGATCGCTTGGGCCCAGGAGCTTGAGACCAGCCTGGGCAGCATAGGGAGACCCCGCCTCTACCAAAAAAAAAAAAAAAAAAAAAAAAATTAGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGAGAGGCTGAGGCGGGCAGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGAGCAATATAGTGAAACCCTGTCTCTATAAAAAAAATAACAAAATATTGGCCAGGTGTGGTGGCACGTGCCTGTAGTCCCAGCTGCATGGGAAGCTGAGGAAGGAGGATTGCTTGAGCCGAGGGGGCAGAGGCTGCAGTGAGCCACTATACTCCAGCTTCACTGACAGAGCGAGACCCTTCTCAAAAAATAATAACAATAATATACACATGACCCCTAACCTCTAAACTCCTGACCTCTGTACACTTGACCCCTAATCTGACCTTGACAACCATGATCACATTCCTGATCATCACCCAACTTTCACACCCCTGACACCCAGAGCCTGGACCCTGGACCTCTCCATCCCTGAGTTCCGGGACCCCCCTGTACCTACACAGGAGCGAGTCCCAGTCCCAGCTCTGCCCTTGGCCATTGTGTGACCTCGGACAAATGCTTTTCCCTCTCTGCGTCTCGGTCTCCCTCTCTGTAAAACGGGTGGGTCTGGGGGAGTCTTGCGGGAGTGAGGTTGCGGCAGTGACGTTGCGGCAGTTAGCGCTCCCAGCCGTGGCTGACAGCTGCGAGGTCCCTGTAGGAGCCTGGACAGCTTCAGCGGGAAGCCACGGGGCTCGGGGCCACCCGCTGGCACGGCGCTGCCCATCGAGGGCGTTATCCTGAGCCTGCAGGACCTCTTCATCTACTTCGAGCCTCCCTCCGAGGACTTGCAGCACGAGGAGAAGCAGAGCAAGCTGCGAAGCCTGCGCAACCGCCAGAGCCTCTTCCAGGAGGAGGTGAGGACGTGGCGAGGGCGGAGCGGGGCCTGTGGGCCCAGGGGGCGGGACCACTGAGGGGCGGGGCCACGGCGCTGGGCGGGGCAGGGCCTGAGGGACCTGGGGAAGTAGGGTCTGAGAAGGGGGCGGGGCAGGAGAAGGAGCCGGACAGGAACCCCAGCCAGTGAGAACACGATGGGGCGGGGCCTTGGGAGGGGCGGGCCTGCTGTGCTGGTGGGCAGGACCTTTGGGAAGGGGCAGGGCGTATGGCCGACCAGGGGGCGGGGCCTGGAGAGAAGGATGGAATAAAAGAGCTGAGGGGCGGGGCCTATGTGAAGCTCAGGTATAGGGTGAGGCCTGGGGAGGTGAGGCCAGGAGTGGGGCCAGAGGTCAGAGGTAGGGCTGCCGACTCAGCGGGCGGGGTCTGCTGGCGCGGGGTCTGTGGGGTGGGCGGACAGAATCAGTGTGGGGTATGGGAGGTGCCGAGGCAGAAATAGATCTTTGGGCATTAGGGAGGGGAGGCCAGCTGTGAACAAAACAGAAAAAAATCTCTGTCCTTATGGAGTTGACATGGCGGGGAGAGACAGGAGATCAATAAAATAAATAAGTAAATTGTATGGCATATTAGATGGTAATAACTGTTAAAGAGAAAAATTCAGCAGGTAAGGGGTAGGGAGTGTTGGGGTTTTGCAGTTTAAGACAGAGCTGTCAGACAGGGTGACCTGGAGGAAGAGAGGAAGCCATGTGCAAAGGCCATGAGGTGGGCGGGTGTTTGGCATGTTCCAGAAACAGTCAGGTGGTGATTGGAGCAGGGAGGCTTGGGTGGGGGAGTGGGAGGAAATGAGGGCAGAGAGGTGACGAGGGCCAGGCCTTGGTGAGGACTTTGGCTTTGGGAGCCACAGGAGGTTTTGGTCCTCTACAGTCACAGCTAGTTAGTGGCAGAGCCGGTCAGTGTGATGCCACTTTGGTTGTGCTCTCCACTTTGAGGCACTGCTCCTCTCACTACTGATCTAGGCCCCAGGATGCAGATACAACAATTGTTTTGTTTTGTCTTGTTTTTTGAAACAGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAATGATTCTCCTGCCTCCTCAGCCTCCCAAGTAGCTGAAACTACAGGTGTGAGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTCGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCCACCTCCCAAAGAGCTGGGATTACAGGCGTGAGCCACTGCACCCAGACAGTTTTGTCCTTTTTGTTGATTTCACTGTTTATAATGTCTCCCAAGTGTAGTGCTGAAGTGCTGTCTAGCTTTCCTAAGTGCAAGAAAGCTATGATGTGCCTTACTGAGAAAATATGTGTTAGATAAGCTTAATTAAGGCATGAGTTATAGTACTGTTGGCTGTGAATTTAATGTTAATGACTCAACAATATATATTAAATAACTGTCTTTAAACAGAAACATAAAAAACAAGGTTATGTAATAAGTGGTTGATGAAAATACTGTCACAGACTCTCAGGGACTCCCTGTATTTCCCCTAGAAGCAGTGGTTCAGTATTTGATAATTCAGTCTTCATAATCACTTTATAGAACATAACTATGAATAATGAGAATTGATTGTATATGTTTTATGTACTTTTCTGTATGTATATTATGATTCACAATGAAATAAGAAAAAATATTAAAATGTAAAAAAAAAAAGAAAAGAAAAGATAAAGTGAGAAAAATCTTTCTGATGGTTGGTGTGGAGAATGAACTGGGCCTCTCCAGTTGGTGGGAGTGGGGTTCCAGTTGGATGGTTGGTGGGAGTGGGGTTCCTGGAAGTGAGTAGGATGGAGAGAAAAGTGCAGGAAGGGGAAGTATAA 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Task1_train_27080 | This mutation occurs in RYR1 (ryanodine receptor 1) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; King Denborough syndrome | CATGCAAGCTTGTAGCTCGATTTTCCAGGCTGCTCTTTGTTAGAAAAGAAATTATTTTGGGGGCTGCTTTCCGTTAGAAAGGAAACTCTGCCGAGGACTCTGTTGCCCTTACTCTCTGCCTAAATAATTTTTTTCTACCTCTTGTATCAGTGCCATCAACCAAGTTAGGGGACAGTCAGTGTTGGCTCAGAAGGACAGGGATCTTAGGCTTTACTGCCAGTGCCTAGAACAGAGCCACTTACTACAGCCTTGCTGAATGGACAAGTAGGAATCCTTGGGGAGGCACTCGTTTGCAAAAACAGGCCTGTAGTTGAATACATGAGCCAAGGGCGTAGAGACGGGGCCTGGGCCATGTCCAAAGTGGGGACACGTGAGCATCATCAGCAGGTGGATGGTGTTTACAGCCGCAGACTGGATGAGTTCTGGGGAGGTCGGCTTGGGGTGAAGCTGGCAGCCATGATGGTCTCACCTCGTGGAAAGGTGGTCTGGCATTCTATCTGGGACAGGTTCAATTTGGGGGTTAGAGCTTTCTGGTCGGGGGGAATGTTAAGTCAGCAGTAGGTACAGGTGGAAAGGGTCTGGCCTGGAGACAGAGACAGGAAGGAGATAGGGATAGAGAGATAGAGAGGGAGAGGCAGGGACAGAGGTGAGAGAGATAGAGAGACAAAGACAGACAAAACCAAAAACAGGGACAGAGAGAGACAGAGAGGAGAGAGAGAATCAAAGACACAGAGGAGACAGATGACGGGGGACAGAAAAATGAGGAGGAATTTGCAGTGAGATTCTGCAGAGCAGGGAGGAGGGGGCAAGTGCAGAACTCAAGTCTAGACAGACGTCTTGGGGGCATGGCCCTGGGTGGCTGGGCCCACTCCAGACCTCTGTCTCCCCACTCCTAGGCCATGCTGCACCAGGAGGGCCACATGGACGACGCACTGTCGCTGACCCGCTGCCAGCAGGAGGAGTCCCAGGCCGCCCGCATGATCCACAGCACCAATGGCCTATACAACCAGTTCATCAAGTGAGCAACCTGCCCTCCCTGCTGGGGTGACTCCTGTGCTGTCCCATGCTCCGGGCATCCATACACTTGGCCTCTTTCATCTCTACCTCTGTTGCCCACACCCTTGTCTAACATATACATGGGCCAAGCGCAGTGGCTCACACCTGTAATCCCAAGACTTTGGGAGGGCAAGGCATGAGGATCGCTTGGGCCCAGGAGCTTGAGACCAGCCTGGGCAGCATAGGGAGACCCCGCCTCTACCAAAAAAAAAAAAAAAAAAAAAAAAATTAGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGAGAGGCTGAGGCGGGCAGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGAGCAATATAGTGAAACCCTGTCTCTATAAAAAAAATAACAAAATATTGGCCAGGTGTGGTGGCACGTGCCTGTAGTCCCAGCTGCATGGGAAGCTGAGGAAGGAGGATTGCTTGAGCCGAGGGGGCAGAGGCTGCAGTGAGCCACTATACTCCAGCTTCACTGACAGAGCGAGACCCTTCTCAAAAAATAATAACAATAATATACACATGACCCCTAACCTCTAAACTCCTGACCTCTGTACACTTGACCCCTAATCTGACCTTGACAACCATGATCACATTCCTGATCATCACCCAACTTTCACACCCCTGACACCCAGAGCCTGGACCCTGGACCTCTCCATCCCTGAGTTCCGGGACCCCCCTGTACCTACACAGGAGCGAGTCCCAGTCCCAGCTCTGCCCTTGGCCATTGTGTGACCTCGGACAAATGCTTTTCCCTCTCTGCGTCTCGGTCTCCCTCTCTGTAAAACGGGTGGGTCTGGGGGAGTCTTGCGGGAGTGAGGTTGCGGCAGTGACGTTGCGGCAGTTAGCGCTCCCAGCCGTGGCTGACAGCTGCGAGGTCCCTGTAGGAGCCTGGACAGCTTCAGCGGGAAGCCACGGGGCTCGGGGCCACCCGCTGGCACGGCGCTGCCCATCGAGGGCGTTATCCTGAGCCTGCAGGACCTCATCATCTACTTCGAGCCTCCCTCCGAGGACTTGCAGCACGAGGAGAAGCAGAGCAAGCTGCGAAGCCTGCGCAACCGCCAGAGCCTCTTCCAGGAGGAGGTGAGGACGTGGCGAGGGCGGAGCGGGGCCTGTGGGCCCAGGGGGCGGGACCACTGAGGGGCGGGGCCACGGCGCTGGGCGGGGCAGGGCCTGAGGGACCTGGGGAAGTAGGGTCTGAGAAGGGGGCGGGGCAGGAGAAGGAGCCGGACAGGAACCCCAGCCAGTGAGAACACGATGGGGCGGGGCCTTGGGAGGGGCGGGCCTGCTGTGCTGGTGGGCAGGACCTTTGGGAAGGGGCAGGGCGTATGGCCGACCAGGGGGCGGGGCCTGGAGAGAAGGATGGAATAAAAGAGCTGAGGGGCGGGGCCTATGTGAAGCTCAGGTATAGGGTGAGGCCTGGGGAGGTGAGGCCAGGAGTGGGGCCAGAGGTCAGAGGTAGGGCTGCCGACTCAGCGGGCGGGGTCTGCTGGCGCGGGGTCTGTGGGGTGGGCGGACAGAATCAGTGTGGGGTATGGGAGGTGCCGAGGCAGAAATAGATCTTTGGGCATTAGGGAGGGGAGGCCAGCTGTGAACAAAACAGAAAAAAATCTCTGTCCTTATGGAGTTGACATGGCGGGGAGAGACAGGAGATCAATAAAATAAATAAGTAAATTGTATGGCATATTAGATGGTAATAACTGTTAAAGAGAAAAATTCAGCAGGTAAGGGGTAGGGAGTGTTGGGGTTTTGCAGTTTAAGACAGAGCTGTCAGACAGGGTGACCTGGAGGAAGAGAGGAAGCCATGTGCAAAGGCCATGAGGTGGGCGGGTGTTTGGCATGTTCCAGAAACAGTCAGGTGGTGATTGGAGCAGGGAGGCTTGGGTGGGGGAGTGGGAGGAAATGAGGGCAGAGAGGTGACGAGGGCCAGGCCTTGGTGAGGACTTTGGCTTTGGGAGCCACAGGAGGTTTTGGTCCTCTACAGTCACAGCTAGTTAGTGGCAGAGCCGGTCAGTGTGATGCCACTTTGGTTGTGCTCTCCACTTTGAGGCACTGCTCCTCTCACTACTGATCTAGGCCCCAGGATGCAGATACAACAATTGTTTTGTTTTGTCTTGTTTTTTGAAACAGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAATGATTCTCCTGCCTCCTCAGCCTCCCAAGTAGCTGAAACTACAGGTGTGAGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTCGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCCACCTCCCAAAGAGCTGGGATTACAGGCGTGAGCCACTGCACCCAGACAGTTTTGTCCTTTTTGTTGATTTCACTGTTTATAATGTCTCCCAAGTGTAGTGCTGAAGTGCTGTCTAGCTTTCCTAAGTGCAAGAAAGCTATGATGTGCCTTACTGAGAAAATATGTGTTAGATAAGCTTAATTAAGGCATGAGTTATAGTACTGTTGGCTGTGAATTTAATGTTAATGACTCAACAATATATATTAAATAACTGTCTTTAAACAGAAACATAAAAAACAAGGTTATGTAATAAGTGGTTGATGAAAATACTGTCACAGACTCTCAGGGACTCCCTGTATTTCCCCTAGAAGCAGTGGTTCAGTATTTGATAATTCAGTCTTCATAATCACTTTATAGAACATAACTATGAATAATGAGAATTGATTGTATATGTTTTATGTACTTTTCTGTATGTATATTATGATTCACAATGAAATAAGAAAAAATATTAAAATGTAAAAAAAAAAAGAAAAGAAAAGATAAAGTGAGAAAAATCTTTCTGATGGTTGGTGTGGAGAATGAACTGGGCCTCTCCAGTTGGTGGGAGTGGGGTTCCAGTTGGATGGTTGGTGGGAGTGGGGTTCCTGGAAGTGAGTAGGATGGAGAGAAAAGTGCAGGAAGGGGAAGTATAA 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CATGCAAGCTTGTAGCTCGATTTTCCAGGCTGCTCTTTGTTAGAAAAGAAATTATTTTGGGGGCTGCTTTCCGTTAGAAAGGAAACTCTGCCGAGGACTCTGTTGCCCTTACTCTCTGCCTAAATAATTTTTTTCTACCTCTTGTATCAGTGCCATCAACCAAGTTAGGGGACAGTCAGTGTTGGCTCAGAAGGACAGGGATCTTAGGCTTTACTGCCAGTGCCTAGAACAGAGCCACTTACTACAGCCTTGCTGAATGGACAAGTAGGAATCCTTGGGGAGGCACTCGTTTGCAAAAACAGGCCTGTAGTTGAATACATGAGCCAAGGGCGTAGAGACGGGGCCTGGGCCATGTCCAAAGTGGGGACACGTGAGCATCATCAGCAGGTGGATGGTGTTTACAGCCGCAGACTGGATGAGTTCTGGGGAGGTCGGCTTGGGGTGAAGCTGGCAGCCATGATGGTCTCACCTCGTGGAAAGGTGGTCTGGCATTCTATCTGGGACAGGTTCAATTTGGGGGTTAGAGCTTTCTGGTCGGGGGGAATGTTAAGTCAGCAGTAGGTACAGGTGGAAAGGGTCTGGCCTGGAGACAGAGACAGGAAGGAGATAGGGATAGAGAGATAGAGAGGGAGAGGCAGGGACAGAGGTGAGAGAGATAGAGAGACAAAGACAGACAAAACCAAAAACAGGGACAGAGAGAGACAGAGAGGAGAGAGAGAATCAAAGACACAGAGGAGACAGATGACGGGGGACAGAAAAATGAGGAGGAATTTGCAGTGAGATTCTGCAGAGCAGGGAGGAGGGGGCAAGTGCAGAACTCAAGTCTAGACAGACGTCTTGGGGGCATGGCCCTGGGTGGCTGGGCCCACTCCAGACCTCTGTCTCCCCACTCCTAGGCCATGCTGCACCAGGAGGGCCACATGGACGACGCACTGTCGCTGACCCGCTGCCAGCAGGAGGAGTCCCAGGCCGCCCGCATGATCCACAGCACCAATGGCCTATACAACCAGTTCATCAAGTGAGCAACCTGCCCTCCCTGCTGGGGTGACTCCTGTGCTGTCCCATGCTCCGGGCATCCATACACTTGGCCTCTTTCATCTCTACCTCTGTTGCCCACACCCTTGTCTAACATATACATGGGCCAAGCGCAGTGGCTCACACCTGTAATCCCAAGACTTTGGGAGGGCAAGGCATGAGGATCGCTTGGGCCCAGGAGCTTGAGACCAGCCTGGGCAGCATAGGGAGACCCCGCCTCTACCAAAAAAAAAAAAAAAAAAAAAAAAATTAGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGAGAGGCTGAGGCGGGCAGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGAGCAATATAGTGAAACCCTGTCTCTATAAAAAAAATAACAAAATATTGGCCAGGTGTGGTGGCACGTGCCTGTAGTCCCAGCTGCATGGGAAGCTGAGGAAGGAGGATTGCTTGAGCCGAGGGGGCAGAGGCTGCAGTGAGCCACTATACTCCAGCTTCACTGACAGAGCGAGACCCTTCTCAAAAAATAATAACAATAATATACACATGACCCCTAACCTCTAAACTCCTGACCTCTGTACACTTGACCCCTAATCTGACCTTGACAACCATGATCACATTCCTGATCATCACCCAACTTTCACACCCCTGACACCCAGAGCCTGGACCCTGGACCTCTCCATCCCTGAGTTCCGGGACCCCCCTGTACCTACACAGGAGCGAGTCCCAGTCCCAGCTCTGCCCTTGGCCATTGTGTGACCTCGGACAAATGCTTTTCCCTCTCTGCGTCTCGGTCTCCCTCTCTGTAAAACGGGTGGGTCTGGGGGAGTCTTGCGGGAGTGAGGTTGCGGCAGTGACGTTGCGGCAGTTAGCGCTCCCAGCCGTGGCTGACAGCTGCGAGGTCCCTGTAGGAGCCTGGACAGCTTCAGCGGGAAGCCACGGGGCTCGGGGCCACCCGCTGGCACGGCGCTGCCCATCGAGGGCGTTATCCTGAGCCTGCAGGACCTCTTCATCTACTTCGAGCCTCCCTCCGAGGACTTGCAGCACGAGGAGAAGCAGAGCAAGCTGCGAAGCCTGCGCAACCGCCAGAGCCTCTTCCAGGAGGAGGTGAGGACGTGGCGAGGGCGGAGCGGGGCCTGTGGGCCCAGGGGGCGGGACCACTGAGGGGCGGGGCCACGGCGCTGGGCGGGGCAGGGCCTGAGGGACCTGGGGAAGTAGGGTCTGAGAAGGGGGCGGGGCAGGAGAAGGAGCCGGACAGGAACCCCAGCCAGTGAGAACACGATGGGGCGGGGCCTTGGGAGGGGCGGGCCTGCTGTGCTGGTGGGCAGGACCTTTGGGAAGGGGCAGGGCGTATGGCCGACCAGGGGGCGGGGCCTGGAGAGAAGGATGGAATAAAAGAGCTGAGGGGCGGGGCCTATGTGAAGCTCAGGTATAGGGTGAGGCCTGGGGAGGTGAGGCCAGGAGTGGGGCCAGAGGTCAGAGGTAGGGCTGCCGACTCAGCGGGCGGGGTCTGCTGGCGCGGGGTCTGTGGGGTGGGCGGACAGAATCAGTGTGGGGTATGGGAGGTGCCGAGGCAGAAATAGATCTTTGGGCATTAGGGAGGGGAGGCCAGCTGTGAACAAAACAGAAAAAAATCTCTGTCCTTATGGAGTTGACATGGCGGGGAGAGACAGGAGATCAATAAAATAAATAAGTAAATTGTATGGCATATTAGATGGTAATAACTGTTAAAGAGAAAAATTCAGCAGGTAAGGGGTAGGGAGTGTTGGGGTTTTGCAGTTTAAGACAGAGCTGTCAGACAGGGTGACCTGGAGGAAGAGAGGAAGCCATGTGCAAAGGCCATGAGGTGGGCGGGTGTTTGGCATGTTCCAGAAACAGTCAGGTGGTGATTGGAGCAGGGAGGCTTGGGTGGGGGAGTGGGAGGAAATGAGGGCAGAGAGGTGACGAGGGCCAGGCCTTGGTGAGGACTTTGGCTTTGGGAGCCACAGGAGGTTTTGGTCCTCTACAGTCACAGCTAGTTAGTGGCAGAGCCGGTCAGTGTGATGCCACTTTGGTTGTGCTCTCCACTTTGAGGCACTGCTCCTCTCACTACTGATCTAGGCCCCAGGATGCAGATACAACAATTGTTTTGTTTTGTCTTGTTTTTTGAAACAGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAATGATTCTCCTGCCTCCTCAGCCTCCCAAGTAGCTGAAACTACAGGTGTGAGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTCGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCCACCTCCCAAAGAGCTGGGATTACAGGCGTGAGCCACTGCACCCAGACAGTTTTGTCCTTTTTGTTGATTTCACTGTTTATAATGTCTCCCAAGTGTAGTGCTGAAGTGCTGTCTAGCTTTCCTAAGTGCAAGAAAGCTATGATGTGCCTTACTGAGAAAATATGTGTTAGATAAGCTTAATTAAGGCATGAGTTATAGTACTGTTGGCTGTGAATTTAATGTTAATGACTCAACAATATATATTAAATAACTGTCTTTAAACAGAAACATAAAAAACAAGGTTATGTAATAAGTGGTTGATGAAAATACTGTCACAGACTCTCAGGGACTCCCTGTATTTCCCCTAGAAGCAGTGGTTCAGTATTTGATAATTCAGTCTTCATAATCACTTTATAGAACATAACTATGAATAATGAGAATTGATTGTATATGTTTTATGTACTTTTCTGTATGTATATTATGATTCACAATGAAATAAGAAAAAATATTAAAATGTAAAAAAAAAAAGAAAAGAAAAGATAAAGTGAGAAAAATCTTTCTGATGGTTGGTGTGGAGAATGAACTGGGCCTCTCCAGTTGGTGGGAGTGGGGTTCCAGTTGGATGGTTGGTGGGAGTGGGGTTCCTGGAAGTGAGTAGGATGGAGAGAAAAGTGCAGGAAGGGGAAGTATAA 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Task1_train_27081 | This mutation occurs in RYR1 (ryanodine receptor 1) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Central core myopathy | CATGCAAGCTTGTAGCTCGATTTTCCAGGCTGCTCTTTGTTAGAAAAGAAATTATTTTGGGGGCTGCTTTCCGTTAGAAAGGAAACTCTGCCGAGGACTCTGTTGCCCTTACTCTCTGCCTAAATAATTTTTTTCTACCTCTTGTATCAGTGCCATCAACCAAGTTAGGGGACAGTCAGTGTTGGCTCAGAAGGACAGGGATCTTAGGCTTTACTGCCAGTGCCTAGAACAGAGCCACTTACTACAGCCTTGCTGAATGGACAAGTAGGAATCCTTGGGGAGGCACTCGTTTGCAAAAACAGGCCTGTAGTTGAATACATGAGCCAAGGGCGTAGAGACGGGGCCTGGGCCATGTCCAAAGTGGGGACACGTGAGCATCATCAGCAGGTGGATGGTGTTTACAGCCGCAGACTGGATGAGTTCTGGGGAGGTCGGCTTGGGGTGAAGCTGGCAGCCATGATGGTCTCACCTCGTGGAAAGGTGGTCTGGCATTCTATCTGGGACAGGTTCAATTTGGGGGTTAGAGCTTTCTGGTCGGGGGGAATGTTAAGTCAGCAGTAGGTACAGGTGGAAAGGGTCTGGCCTGGAGACAGAGACAGGAAGGAGATAGGGATAGAGAGATAGAGAGGGAGAGGCAGGGACAGAGGTGAGAGAGATAGAGAGACAAAGACAGACAAAACCAAAAACAGGGACAGAGAGAGACAGAGAGGAGAGAGAGAATCAAAGACACAGAGGAGACAGATGACGGGGGACAGAAAAATGAGGAGGAATTTGCAGTGAGATTCTGCAGAGCAGGGAGGAGGGGGCAAGTGCAGAACTCAAGTCTAGACAGACGTCTTGGGGGCATGGCCCTGGGTGGCTGGGCCCACTCCAGACCTCTGTCTCCCCACTCCTAGGCCATGCTGCACCAGGAGGGCCACATGGACGACGCACTGTCGCTGACCCGCTGCCAGCAGGAGGAGTCCCAGGCCGCCCGCATGATCCACAGCACCAATGGCCTATACAACCAGTTCATCAAGTGAGCAACCTGCCCTCCCTGCTGGGGTGACTCCTGTGCTGTCCCATGCTCCGGGCATCCATACACTTGGCCTCTTTCATCTCTACCTCTGTTGCCCACACCCTTGTCTAACATATACATGGGCCAAGCGCAGTGGCTCACACCTGTAATCCCAAGACTTTGGGAGGGCAAGGCATGAGGATCGCTTGGGCCCAGGAGCTTGAGACCAGCCTGGGCAGCATAGGGAGACCCCGCCTCTACCAAAAAAAAAAAAAAAAAAAAAAAAATTAGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGAGAGGCTGAGGCGGGCAGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGAGCAATATAGTGAAACCCTGTCTCTATAAAAAAAATAACAAAATATTGGCCAGGTGTGGTGGCACGTGCCTGTAGTCCCAGCTGCATGGGAAGCTGAGGAAGGAGGATTGCTTGAGCCGAGGGGGCAGAGGCTGCAGTGAGCCACTATACTCCAGCTTCACTGACAGAGCGAGACCCTTCTCAAAAAATAATAACAATAATATACACATGACCCCTAACCTCTAAACTCCTGACCTCTGTACACTTGACCCCTAATCTGACCTTGACAACCATGATCACATTCCTGATCATCACCCAACTTTCACACCCCTGACACCCAGAGCCTGGACCCTGGACCTCTCCATCCCTGAGTTCCGGGACCCCCCTGTACCTACACAGGAGCGAGTCCCAGTCCCAGCTCTGCCCTTGGCCATTGTGTGACCTCGGACAAATGCTTTTCCCTCTCTGCGTCTCGGTCTCCCTCTCTGTAAAACGGGTGGGTCTGGGGGAGTCTTGCGGGAGTGAGGTTGCGGCAGTGACGTTGCGGCAGTTAGCGCTCCCAGCCGTGGCTGACAGCTGCGAGGTCCCTGTAGGAGCCTGGACAGCTTCAGCGGGAAGCCACGGGGCTCGGGGCCACCCGCTGGCACGGCGCTGCCCATCGAGGGCGTTATCCTGAGCCTGCAGGACCTCATCATCTACTTCGAGCCTCCCTCCGAGGACTTGCAGCACGAGGAGAAGCAGAGCAAGCTGCGAAGCCTGCGCAACCGCCAGAGCCTCTTCCAGGAGGAGGTGAGGACGTGGCGAGGGCGGAGCGGGGCCTGTGGGCCCAGGGGGCGGGACCACTGAGGGGCGGGGCCACGGCGCTGGGCGGGGCAGGGCCTGAGGGACCTGGGGAAGTAGGGTCTGAGAAGGGGGCGGGGCAGGAGAAGGAGCCGGACAGGAACCCCAGCCAGTGAGAACACGATGGGGCGGGGCCTTGGGAGGGGCGGGCCTGCTGTGCTGGTGGGCAGGACCTTTGGGAAGGGGCAGGGCGTATGGCCGACCAGGGGGCGGGGCCTGGAGAGAAGGATGGAATAAAAGAGCTGAGGGGCGGGGCCTATGTGAAGCTCAGGTATAGGGTGAGGCCTGGGGAGGTGAGGCCAGGAGTGGGGCCAGAGGTCAGAGGTAGGGCTGCCGACTCAGCGGGCGGGGTCTGCTGGCGCGGGGTCTGTGGGGTGGGCGGACAGAATCAGTGTGGGGTATGGGAGGTGCCGAGGCAGAAATAGATCTTTGGGCATTAGGGAGGGGAGGCCAGCTGTGAACAAAACAGAAAAAAATCTCTGTCCTTATGGAGTTGACATGGCGGGGAGAGACAGGAGATCAATAAAATAAATAAGTAAATTGTATGGCATATTAGATGGTAATAACTGTTAAAGAGAAAAATTCAGCAGGTAAGGGGTAGGGAGTGTTGGGGTTTTGCAGTTTAAGACAGAGCTGTCAGACAGGGTGACCTGGAGGAAGAGAGGAAGCCATGTGCAAAGGCCATGAGGTGGGCGGGTGTTTGGCATGTTCCAGAAACAGTCAGGTGGTGATTGGAGCAGGGAGGCTTGGGTGGGGGAGTGGGAGGAAATGAGGGCAGAGAGGTGACGAGGGCCAGGCCTTGGTGAGGACTTTGGCTTTGGGAGCCACAGGAGGTTTTGGTCCTCTACAGTCACAGCTAGTTAGTGGCAGAGCCGGTCAGTGTGATGCCACTTTGGTTGTGCTCTCCACTTTGAGGCACTGCTCCTCTCACTACTGATCTAGGCCCCAGGATGCAGATACAACAATTGTTTTGTTTTGTCTTGTTTTTTGAAACAGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAATGATTCTCCTGCCTCCTCAGCCTCCCAAGTAGCTGAAACTACAGGTGTGAGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTCGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCCACCTCCCAAAGAGCTGGGATTACAGGCGTGAGCCACTGCACCCAGACAGTTTTGTCCTTTTTGTTGATTTCACTGTTTATAATGTCTCCCAAGTGTAGTGCTGAAGTGCTGTCTAGCTTTCCTAAGTGCAAGAAAGCTATGATGTGCCTTACTGAGAAAATATGTGTTAGATAAGCTTAATTAAGGCATGAGTTATAGTACTGTTGGCTGTGAATTTAATGTTAATGACTCAACAATATATATTAAATAACTGTCTTTAAACAGAAACATAAAAAACAAGGTTATGTAATAAGTGGTTGATGAAAATACTGTCACAGACTCTCAGGGACTCCCTGTATTTCCCCTAGAAGCAGTGGTTCAGTATTTGATAATTCAGTCTTCATAATCACTTTATAGAACATAACTATGAATAATGAGAATTGATTGTATATGTTTTATGTACTTTTCTGTATGTATATTATGATTCACAATGAAATAAGAAAAAATATTAAAATGTAAAAAAAAAAAGAAAAGAAAAGATAAAGTGAGAAAAATCTTTCTGATGGTTGGTGTGGAGAATGAACTGGGCCTCTCCAGTTGGTGGGAGTGGGGTTCCAGTTGGATGGTTGGTGGGAGTGGGGTTCCTGGAAGTGAGTAGGATGGAGAGAAAAGTGCAGGAAGGGGAAGTATAA 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CATGCAAGCTTGTAGCTCGATTTTCCAGGCTGCTCTTTGTTAGAAAAGAAATTATTTTGGGGGCTGCTTTCCGTTAGAAAGGAAACTCTGCCGAGGACTCTGTTGCCCTTACTCTCTGCCTAAATAATTTTTTTCTACCTCTTGTATCAGTGCCATCAACCAAGTTAGGGGACAGTCAGTGTTGGCTCAGAAGGACAGGGATCTTAGGCTTTACTGCCAGTGCCTAGAACAGAGCCACTTACTACAGCCTTGCTGAATGGACAAGTAGGAATCCTTGGGGAGGCACTCGTTTGCAAAAACAGGCCTGTAGTTGAATACATGAGCCAAGGGCGTAGAGACGGGGCCTGGGCCATGTCCAAAGTGGGGACACGTGAGCATCATCAGCAGGTGGATGGTGTTTACAGCCGCAGACTGGATGAGTTCTGGGGAGGTCGGCTTGGGGTGAAGCTGGCAGCCATGATGGTCTCACCTCGTGGAAAGGTGGTCTGGCATTCTATCTGGGACAGGTTCAATTTGGGGGTTAGAGCTTTCTGGTCGGGGGGAATGTTAAGTCAGCAGTAGGTACAGGTGGAAAGGGTCTGGCCTGGAGACAGAGACAGGAAGGAGATAGGGATAGAGAGATAGAGAGGGAGAGGCAGGGACAGAGGTGAGAGAGATAGAGAGACAAAGACAGACAAAACCAAAAACAGGGACAGAGAGAGACAGAGAGGAGAGAGAGAATCAAAGACACAGAGGAGACAGATGACGGGGGACAGAAAAATGAGGAGGAATTTGCAGTGAGATTCTGCAGAGCAGGGAGGAGGGGGCAAGTGCAGAACTCAAGTCTAGACAGACGTCTTGGGGGCATGGCCCTGGGTGGCTGGGCCCACTCCAGACCTCTGTCTCCCCACTCCTAGGCCATGCTGCACCAGGAGGGCCACATGGACGACGCACTGTCGCTGACCCGCTGCCAGCAGGAGGAGTCCCAGGCCGCCCGCATGATCCACAGCACCAATGGCCTATACAACCAGTTCATCAAGTGAGCAACCTGCCCTCCCTGCTGGGGTGACTCCTGTGCTGTCCCATGCTCCGGGCATCCATACACTTGGCCTCTTTCATCTCTACCTCTGTTGCCCACACCCTTGTCTAACATATACATGGGCCAAGCGCAGTGGCTCACACCTGTAATCCCAAGACTTTGGGAGGGCAAGGCATGAGGATCGCTTGGGCCCAGGAGCTTGAGACCAGCCTGGGCAGCATAGGGAGACCCCGCCTCTACCAAAAAAAAAAAAAAAAAAAAAAAAATTAGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGAGAGGCTGAGGCGGGCAGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGAGCAATATAGTGAAACCCTGTCTCTATAAAAAAAATAACAAAATATTGGCCAGGTGTGGTGGCACGTGCCTGTAGTCCCAGCTGCATGGGAAGCTGAGGAAGGAGGATTGCTTGAGCCGAGGGGGCAGAGGCTGCAGTGAGCCACTATACTCCAGCTTCACTGACAGAGCGAGACCCTTCTCAAAAAATAATAACAATAATATACACATGACCCCTAACCTCTAAACTCCTGACCTCTGTACACTTGACCCCTAATCTGACCTTGACAACCATGATCACATTCCTGATCATCACCCAACTTTCACACCCCTGACACCCAGAGCCTGGACCCTGGACCTCTCCATCCCTGAGTTCCGGGACCCCCCTGTACCTACACAGGAGCGAGTCCCAGTCCCAGCTCTGCCCTTGGCCATTGTGTGACCTCGGACAAATGCTTTTCCCTCTCTGCGTCTCGGTCTCCCTCTCTGTAAAACGGGTGGGTCTGGGGGAGTCTTGCGGGAGTGAGGTTGCGGCAGTGACGTTGCGGCAGTTAGCGCTCCCAGCCGTGGCTGACAGCTGCGAGGTCCCTGTAGGAGCCTGGACAGCTTCAGCGGGAAGCCACGGGGCTCGGGGCCACCCGCTGGCACGGCGCTGCCCATCGAGGGCGTTATCCTGAGCCTGCAGGACCTCTTCATCTACTTCGAGCCTCCCTCCGAGGACTTGCAGCACGAGGAGAAGCAGAGCAAGCTGCGAAGCCTGCGCAACCGCCAGAGCCTCTTCCAGGAGGAGGTGAGGACGTGGCGAGGGCGGAGCGGGGCCTGTGGGCCCAGGGGGCGGGACCACTGAGGGGCGGGGCCACGGCGCTGGGCGGGGCAGGGCCTGAGGGACCTGGGGAAGTAGGGTCTGAGAAGGGGGCGGGGCAGGAGAAGGAGCCGGACAGGAACCCCAGCCAGTGAGAACACGATGGGGCGGGGCCTTGGGAGGGGCGGGCCTGCTGTGCTGGTGGGCAGGACCTTTGGGAAGGGGCAGGGCGTATGGCCGACCAGGGGGCGGGGCCTGGAGAGAAGGATGGAATAAAAGAGCTGAGGGGCGGGGCCTATGTGAAGCTCAGGTATAGGGTGAGGCCTGGGGAGGTGAGGCCAGGAGTGGGGCCAGAGGTCAGAGGTAGGGCTGCCGACTCAGCGGGCGGGGTCTGCTGGCGCGGGGTCTGTGGGGTGGGCGGACAGAATCAGTGTGGGGTATGGGAGGTGCCGAGGCAGAAATAGATCTTTGGGCATTAGGGAGGGGAGGCCAGCTGTGAACAAAACAGAAAAAAATCTCTGTCCTTATGGAGTTGACATGGCGGGGAGAGACAGGAGATCAATAAAATAAATAAGTAAATTGTATGGCATATTAGATGGTAATAACTGTTAAAGAGAAAAATTCAGCAGGTAAGGGGTAGGGAGTGTTGGGGTTTTGCAGTTTAAGACAGAGCTGTCAGACAGGGTGACCTGGAGGAAGAGAGGAAGCCATGTGCAAAGGCCATGAGGTGGGCGGGTGTTTGGCATGTTCCAGAAACAGTCAGGTGGTGATTGGAGCAGGGAGGCTTGGGTGGGGGAGTGGGAGGAAATGAGGGCAGAGAGGTGACGAGGGCCAGGCCTTGGTGAGGACTTTGGCTTTGGGAGCCACAGGAGGTTTTGGTCCTCTACAGTCACAGCTAGTTAGTGGCAGAGCCGGTCAGTGTGATGCCACTTTGGTTGTGCTCTCCACTTTGAGGCACTGCTCCTCTCACTACTGATCTAGGCCCCAGGATGCAGATACAACAATTGTTTTGTTTTGTCTTGTTTTTTGAAACAGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAATGATTCTCCTGCCTCCTCAGCCTCCCAAGTAGCTGAAACTACAGGTGTGAGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTCGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCCACCTCCCAAAGAGCTGGGATTACAGGCGTGAGCCACTGCACCCAGACAGTTTTGTCCTTTTTGTTGATTTCACTGTTTATAATGTCTCCCAAGTGTAGTGCTGAAGTGCTGTCTAGCTTTCCTAAGTGCAAGAAAGCTATGATGTGCCTTACTGAGAAAATATGTGTTAGATAAGCTTAATTAAGGCATGAGTTATAGTACTGTTGGCTGTGAATTTAATGTTAATGACTCAACAATATATATTAAATAACTGTCTTTAAACAGAAACATAAAAAACAAGGTTATGTAATAAGTGGTTGATGAAAATACTGTCACAGACTCTCAGGGACTCCCTGTATTTCCCCTAGAAGCAGTGGTTCAGTATTTGATAATTCAGTCTTCATAATCACTTTATAGAACATAACTATGAATAATGAGAATTGATTGTATATGTTTTATGTACTTTTCTGTATGTATATTATGATTCACAATGAAATAAGAAAAAATATTAAAATGTAAAAAAAAAAAGAAAAGAAAAGATAAAGTGAGAAAAATCTTTCTGATGGTTGGTGTGGAGAATGAACTGGGCCTCTCCAGTTGGTGGGAGTGGGGTTCCAGTTGGATGGTTGGTGGGAGTGGGGTTCCTGGAAGTGAGTAGGATGGAGAGAAAAGTGCAGGAAGGGGAAGTATAA 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Task1_train_27082 | The gene RYR1 (ryanodine receptor 1) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Congenital multicore myopathy with external ophthalmoplegia | CATGCAAGCTTGTAGCTCGATTTTCCAGGCTGCTCTTTGTTAGAAAAGAAATTATTTTGGGGGCTGCTTTCCGTTAGAAAGGAAACTCTGCCGAGGACTCTGTTGCCCTTACTCTCTGCCTAAATAATTTTTTTCTACCTCTTGTATCAGTGCCATCAACCAAGTTAGGGGACAGTCAGTGTTGGCTCAGAAGGACAGGGATCTTAGGCTTTACTGCCAGTGCCTAGAACAGAGCCACTTACTACAGCCTTGCTGAATGGACAAGTAGGAATCCTTGGGGAGGCACTCGTTTGCAAAAACAGGCCTGTAGTTGAATACATGAGCCAAGGGCGTAGAGACGGGGCCTGGGCCATGTCCAAAGTGGGGACACGTGAGCATCATCAGCAGGTGGATGGTGTTTACAGCCGCAGACTGGATGAGTTCTGGGGAGGTCGGCTTGGGGTGAAGCTGGCAGCCATGATGGTCTCACCTCGTGGAAAGGTGGTCTGGCATTCTATCTGGGACAGGTTCAATTTGGGGGTTAGAGCTTTCTGGTCGGGGGGAATGTTAAGTCAGCAGTAGGTACAGGTGGAAAGGGTCTGGCCTGGAGACAGAGACAGGAAGGAGATAGGGATAGAGAGATAGAGAGGGAGAGGCAGGGACAGAGGTGAGAGAGATAGAGAGACAAAGACAGACAAAACCAAAAACAGGGACAGAGAGAGACAGAGAGGAGAGAGAGAATCAAAGACACAGAGGAGACAGATGACGGGGGACAGAAAAATGAGGAGGAATTTGCAGTGAGATTCTGCAGAGCAGGGAGGAGGGGGCAAGTGCAGAACTCAAGTCTAGACAGACGTCTTGGGGGCATGGCCCTGGGTGGCTGGGCCCACTCCAGACCTCTGTCTCCCCACTCCTAGGCCATGCTGCACCAGGAGGGCCACATGGACGACGCACTGTCGCTGACCCGCTGCCAGCAGGAGGAGTCCCAGGCCGCCCGCATGATCCACAGCACCAATGGCCTATACAACCAGTTCATCAAGTGAGCAACCTGCCCTCCCTGCTGGGGTGACTCCTGTGCTGTCCCATGCTCCGGGCATCCATACACTTGGCCTCTTTCATCTCTACCTCTGTTGCCCACACCCTTGTCTAACATATACATGGGCCAAGCGCAGTGGCTCACACCTGTAATCCCAAGACTTTGGGAGGGCAAGGCATGAGGATCGCTTGGGCCCAGGAGCTTGAGACCAGCCTGGGCAGCATAGGGAGACCCCGCCTCTACCAAAAAAAAAAAAAAAAAAAAAAAAATTAGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGAGAGGCTGAGGCGGGCAGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGAGCAATATAGTGAAACCCTGTCTCTATAAAAAAAATAACAAAATATTGGCCAGGTGTGGTGGCACGTGCCTGTAGTCCCAGCTGCATGGGAAGCTGAGGAAGGAGGATTGCTTGAGCCGAGGGGGCAGAGGCTGCAGTGAGCCACTATACTCCAGCTTCACTGACAGAGCGAGACCCTTCTCAAAAAATAATAACAATAATATACACATGACCCCTAACCTCTAAACTCCTGACCTCTGTACACTTGACCCCTAATCTGACCTTGACAACCATGATCACATTCCTGATCATCACCCAACTTTCACACCCCTGACACCCAGAGCCTGGACCCTGGACCTCTCCATCCCTGAGTTCCGGGACCCCCCTGTACCTACACAGGAGCGAGTCCCAGTCCCAGCTCTGCCCTTGGCCATTGTGTGACCTCGGACAAATGCTTTTCCCTCTCTGCGTCTCGGTCTCCCTCTCTGTAAAACGGGTGGGTCTGGGGGAGTCTTGCGGGAGTGAGGTTGCGGCAGTGACGTTGCGGCAGTTAGCGCTCCCAGCCGTGGCTGACAGCTGCGAGGTCCCTGTAGGAGCCTGGACAGCTTCAGCGGGAAGCCACGGGGCTCGGGGCCACCCGCTGGCACGGCGCTGCCCATCGAGGGCGTTATCCTGAGCCTGCAGGACCTCATCATCTACTTCGAGCCTCCCTCCGAGGACTTGCAGCACGAGGAGAAGCAGAGCAAGCTGCGAAGCCTGCGCAACCGCCAGAGCCTCTTCCAGGAGGAGGTGAGGACGTGGCGAGGGCGGAGCGGGGCCTGTGGGCCCAGGGGGCGGGACCACTGAGGGGCGGGGCCACGGCGCTGGGCGGGGCAGGGCCTGAGGGACCTGGGGAAGTAGGGTCTGAGAAGGGGGCGGGGCAGGAGAAGGAGCCGGACAGGAACCCCAGCCAGTGAGAACACGATGGGGCGGGGCCTTGGGAGGGGCGGGCCTGCTGTGCTGGTGGGCAGGACCTTTGGGAAGGGGCAGGGCGTATGGCCGACCAGGGGGCGGGGCCTGGAGAGAAGGATGGAATAAAAGAGCTGAGGGGCGGGGCCTATGTGAAGCTCAGGTATAGGGTGAGGCCTGGGGAGGTGAGGCCAGGAGTGGGGCCAGAGGTCAGAGGTAGGGCTGCCGACTCAGCGGGCGGGGTCTGCTGGCGCGGGGTCTGTGGGGTGGGCGGACAGAATCAGTGTGGGGTATGGGAGGTGCCGAGGCAGAAATAGATCTTTGGGCATTAGGGAGGGGAGGCCAGCTGTGAACAAAACAGAAAAAAATCTCTGTCCTTATGGAGTTGACATGGCGGGGAGAGACAGGAGATCAATAAAATAAATAAGTAAATTGTATGGCATATTAGATGGTAATAACTGTTAAAGAGAAAAATTCAGCAGGTAAGGGGTAGGGAGTGTTGGGGTTTTGCAGTTTAAGACAGAGCTGTCAGACAGGGTGACCTGGAGGAAGAGAGGAAGCCATGTGCAAAGGCCATGAGGTGGGCGGGTGTTTGGCATGTTCCAGAAACAGTCAGGTGGTGATTGGAGCAGGGAGGCTTGGGTGGGGGAGTGGGAGGAAATGAGGGCAGAGAGGTGACGAGGGCCAGGCCTTGGTGAGGACTTTGGCTTTGGGAGCCACAGGAGGTTTTGGTCCTCTACAGTCACAGCTAGTTAGTGGCAGAGCCGGTCAGTGTGATGCCACTTTGGTTGTGCTCTCCACTTTGAGGCACTGCTCCTCTCACTACTGATCTAGGCCCCAGGATGCAGATACAACAATTGTTTTGTTTTGTCTTGTTTTTTGAAACAGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAATGATTCTCCTGCCTCCTCAGCCTCCCAAGTAGCTGAAACTACAGGTGTGAGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTCGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCCACCTCCCAAAGAGCTGGGATTACAGGCGTGAGCCACTGCACCCAGACAGTTTTGTCCTTTTTGTTGATTTCACTGTTTATAATGTCTCCCAAGTGTAGTGCTGAAGTGCTGTCTAGCTTTCCTAAGTGCAAGAAAGCTATGATGTGCCTTACTGAGAAAATATGTGTTAGATAAGCTTAATTAAGGCATGAGTTATAGTACTGTTGGCTGTGAATTTAATGTTAATGACTCAACAATATATATTAAATAACTGTCTTTAAACAGAAACATAAAAAACAAGGTTATGTAATAAGTGGTTGATGAAAATACTGTCACAGACTCTCAGGGACTCCCTGTATTTCCCCTAGAAGCAGTGGTTCAGTATTTGATAATTCAGTCTTCATAATCACTTTATAGAACATAACTATGAATAATGAGAATTGATTGTATATGTTTTATGTACTTTTCTGTATGTATATTATGATTCACAATGAAATAAGAAAAAATATTAAAATGTAAAAAAAAAAAGAAAAGAAAAGATAAAGTGAGAAAAATCTTTCTGATGGTTGGTGTGGAGAATGAACTGGGCCTCTCCAGTTGGTGGGAGTGGGGTTCCAGTTGGATGGTTGGTGGGAGTGGGGTTCCTGGAAGTGAGTAGGATGGAGAGAAAAGTGCAGGAAGGGGAAGTATAA 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CATGCAAGCTTGTAGCTCGATTTTCCAGGCTGCTCTTTGTTAGAAAAGAAATTATTTTGGGGGCTGCTTTCCGTTAGAAAGGAAACTCTGCCGAGGACTCTGTTGCCCTTACTCTCTGCCTAAATAATTTTTTTCTACCTCTTGTATCAGTGCCATCAACCAAGTTAGGGGACAGTCAGTGTTGGCTCAGAAGGACAGGGATCTTAGGCTTTACTGCCAGTGCCTAGAACAGAGCCACTTACTACAGCCTTGCTGAATGGACAAGTAGGAATCCTTGGGGAGGCACTCGTTTGCAAAAACAGGCCTGTAGTTGAATACATGAGCCAAGGGCGTAGAGACGGGGCCTGGGCCATGTCCAAAGTGGGGACACGTGAGCATCATCAGCAGGTGGATGGTGTTTACAGCCGCAGACTGGATGAGTTCTGGGGAGGTCGGCTTGGGGTGAAGCTGGCAGCCATGATGGTCTCACCTCGTGGAAAGGTGGTCTGGCATTCTATCTGGGACAGGTTCAATTTGGGGGTTAGAGCTTTCTGGTCGGGGGGAATGTTAAGTCAGCAGTAGGTACAGGTGGAAAGGGTCTGGCCTGGAGACAGAGACAGGAAGGAGATAGGGATAGAGAGATAGAGAGGGAGAGGCAGGGACAGAGGTGAGAGAGATAGAGAGACAAAGACAGACAAAACCAAAAACAGGGACAGAGAGAGACAGAGAGGAGAGAGAGAATCAAAGACACAGAGGAGACAGATGACGGGGGACAGAAAAATGAGGAGGAATTTGCAGTGAGATTCTGCAGAGCAGGGAGGAGGGGGCAAGTGCAGAACTCAAGTCTAGACAGACGTCTTGGGGGCATGGCCCTGGGTGGCTGGGCCCACTCCAGACCTCTGTCTCCCCACTCCTAGGCCATGCTGCACCAGGAGGGCCACATGGACGACGCACTGTCGCTGACCCGCTGCCAGCAGGAGGAGTCCCAGGCCGCCCGCATGATCCACAGCACCAATGGCCTATACAACCAGTTCATCAAGTGAGCAACCTGCCCTCCCTGCTGGGGTGACTCCTGTGCTGTCCCATGCTCCGGGCATCCATACACTTGGCCTCTTTCATCTCTACCTCTGTTGCCCACACCCTTGTCTAACATATACATGGGCCAAGCGCAGTGGCTCACACCTGTAATCCCAAGACTTTGGGAGGGCAAGGCATGAGGATCGCTTGGGCCCAGGAGCTTGAGACCAGCCTGGGCAGCATAGGGAGACCCCGCCTCTACCAAAAAAAAAAAAAAAAAAAAAAAAATTAGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGAGAGGCTGAGGCGGGCAGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGAGCAATATAGTGAAACCCTGTCTCTATAAAAAAAATAACAAAATATTGGCCAGGTGTGGTGGCACGTGCCTGTAGTCCCAGCTGCATGGGAAGCTGAGGAAGGAGGATTGCTTGAGCCGAGGGGGCAGAGGCTGCAGTGAGCCACTATACTCCAGCTTCACTGACAGAGCGAGACCCTTCTCAAAAAATAATAACAATAATATACACATGACCCCTAACCTCTAAACTCCTGACCTCTGTACACTTGACCCCTAATCTGACCTTGACAACCATGATCACATTCCTGATCATCACCCAACTTTCACACCCCTGACACCCAGAGCCTGGACCCTGGACCTCTCCATCCCTGAGTTCCGGGACCCCCCTGTACCTACACAGGAGCGAGTCCCAGTCCCAGCTCTGCCCTTGGCCATTGTGTGACCTCGGACAAATGCTTTTCCCTCTCTGCGTCTCGGTCTCCCTCTCTGTAAAACGGGTGGGTCTGGGGGAGTCTTGCGGGAGTGAGGTTGCGGCAGTGACGTTGCGGCAGTTAGCGCTCCCAGCCGTGGCTGACAGCTGCGAGGTCCCTGTAGGAGCCTGGACAGCTTCAGCGGGAAGCCACGGGGCTCGGGGCCACCCGCTGGCACGGCGCTGCCCATCGAGGGCGTTATCCTGAGCCTGCAGGACCTCTTCATCTACTTCGAGCCTCCCTCCGAGGACTTGCAGCACGAGGAGAAGCAGAGCAAGCTGCGAAGCCTGCGCAACCGCCAGAGCCTCTTCCAGGAGGAGGTGAGGACGTGGCGAGGGCGGAGCGGGGCCTGTGGGCCCAGGGGGCGGGACCACTGAGGGGCGGGGCCACGGCGCTGGGCGGGGCAGGGCCTGAGGGACCTGGGGAAGTAGGGTCTGAGAAGGGGGCGGGGCAGGAGAAGGAGCCGGACAGGAACCCCAGCCAGTGAGAACACGATGGGGCGGGGCCTTGGGAGGGGCGGGCCTGCTGTGCTGGTGGGCAGGACCTTTGGGAAGGGGCAGGGCGTATGGCCGACCAGGGGGCGGGGCCTGGAGAGAAGGATGGAATAAAAGAGCTGAGGGGCGGGGCCTATGTGAAGCTCAGGTATAGGGTGAGGCCTGGGGAGGTGAGGCCAGGAGTGGGGCCAGAGGTCAGAGGTAGGGCTGCCGACTCAGCGGGCGGGGTCTGCTGGCGCGGGGTCTGTGGGGTGGGCGGACAGAATCAGTGTGGGGTATGGGAGGTGCCGAGGCAGAAATAGATCTTTGGGCATTAGGGAGGGGAGGCCAGCTGTGAACAAAACAGAAAAAAATCTCTGTCCTTATGGAGTTGACATGGCGGGGAGAGACAGGAGATCAATAAAATAAATAAGTAAATTGTATGGCATATTAGATGGTAATAACTGTTAAAGAGAAAAATTCAGCAGGTAAGGGGTAGGGAGTGTTGGGGTTTTGCAGTTTAAGACAGAGCTGTCAGACAGGGTGACCTGGAGGAAGAGAGGAAGCCATGTGCAAAGGCCATGAGGTGGGCGGGTGTTTGGCATGTTCCAGAAACAGTCAGGTGGTGATTGGAGCAGGGAGGCTTGGGTGGGGGAGTGGGAGGAAATGAGGGCAGAGAGGTGACGAGGGCCAGGCCTTGGTGAGGACTTTGGCTTTGGGAGCCACAGGAGGTTTTGGTCCTCTACAGTCACAGCTAGTTAGTGGCAGAGCCGGTCAGTGTGATGCCACTTTGGTTGTGCTCTCCACTTTGAGGCACTGCTCCTCTCACTACTGATCTAGGCCCCAGGATGCAGATACAACAATTGTTTTGTTTTGTCTTGTTTTTTGAAACAGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAATGATTCTCCTGCCTCCTCAGCCTCCCAAGTAGCTGAAACTACAGGTGTGAGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTCGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCCACCTCCCAAAGAGCTGGGATTACAGGCGTGAGCCACTGCACCCAGACAGTTTTGTCCTTTTTGTTGATTTCACTGTTTATAATGTCTCCCAAGTGTAGTGCTGAAGTGCTGTCTAGCTTTCCTAAGTGCAAGAAAGCTATGATGTGCCTTACTGAGAAAATATGTGTTAGATAAGCTTAATTAAGGCATGAGTTATAGTACTGTTGGCTGTGAATTTAATGTTAATGACTCAACAATATATATTAAATAACTGTCTTTAAACAGAAACATAAAAAACAAGGTTATGTAATAAGTGGTTGATGAAAATACTGTCACAGACTCTCAGGGACTCCCTGTATTTCCCCTAGAAGCAGTGGTTCAGTATTTGATAATTCAGTCTTCATAATCACTTTATAGAACATAACTATGAATAATGAGAATTGATTGTATATGTTTTATGTACTTTTCTGTATGTATATTATGATTCACAATGAAATAAGAAAAAATATTAAAATGTAAAAAAAAAAAGAAAAGAAAAGATAAAGTGAGAAAAATCTTTCTGATGGTTGGTGTGGAGAATGAACTGGGCCTCTCCAGTTGGTGGGAGTGGGGTTCCAGTTGGATGGTTGGTGGGAGTGGGGTTCCTGGAAGTGAGTAGGATGGAGAGAAAAGTGCAGGAAGGGGAAGTATAA 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Task1_train_27083 | Located on Chromosome 19, this mutation impacts RYR1 (ryanodine receptor 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Malignant hyperthermia, susceptibility to, 1 | CATGCAAGCTTGTAGCTCGATTTTCCAGGCTGCTCTTTGTTAGAAAAGAAATTATTTTGGGGGCTGCTTTCCGTTAGAAAGGAAACTCTGCCGAGGACTCTGTTGCCCTTACTCTCTGCCTAAATAATTTTTTTCTACCTCTTGTATCAGTGCCATCAACCAAGTTAGGGGACAGTCAGTGTTGGCTCAGAAGGACAGGGATCTTAGGCTTTACTGCCAGTGCCTAGAACAGAGCCACTTACTACAGCCTTGCTGAATGGACAAGTAGGAATCCTTGGGGAGGCACTCGTTTGCAAAAACAGGCCTGTAGTTGAATACATGAGCCAAGGGCGTAGAGACGGGGCCTGGGCCATGTCCAAAGTGGGGACACGTGAGCATCATCAGCAGGTGGATGGTGTTTACAGCCGCAGACTGGATGAGTTCTGGGGAGGTCGGCTTGGGGTGAAGCTGGCAGCCATGATGGTCTCACCTCGTGGAAAGGTGGTCTGGCATTCTATCTGGGACAGGTTCAATTTGGGGGTTAGAGCTTTCTGGTCGGGGGGAATGTTAAGTCAGCAGTAGGTACAGGTGGAAAGGGTCTGGCCTGGAGACAGAGACAGGAAGGAGATAGGGATAGAGAGATAGAGAGGGAGAGGCAGGGACAGAGGTGAGAGAGATAGAGAGACAAAGACAGACAAAACCAAAAACAGGGACAGAGAGAGACAGAGAGGAGAGAGAGAATCAAAGACACAGAGGAGACAGATGACGGGGGACAGAAAAATGAGGAGGAATTTGCAGTGAGATTCTGCAGAGCAGGGAGGAGGGGGCAAGTGCAGAACTCAAGTCTAGACAGACGTCTTGGGGGCATGGCCCTGGGTGGCTGGGCCCACTCCAGACCTCTGTCTCCCCACTCCTAGGCCATGCTGCACCAGGAGGGCCACATGGACGACGCACTGTCGCTGACCCGCTGCCAGCAGGAGGAGTCCCAGGCCGCCCGCATGATCCACAGCACCAATGGCCTATACAACCAGTTCATCAAGTGAGCAACCTGCCCTCCCTGCTGGGGTGACTCCTGTGCTGTCCCATGCTCCGGGCATCCATACACTTGGCCTCTTTCATCTCTACCTCTGTTGCCCACACCCTTGTCTAACATATACATGGGCCAAGCGCAGTGGCTCACACCTGTAATCCCAAGACTTTGGGAGGGCAAGGCATGAGGATCGCTTGGGCCCAGGAGCTTGAGACCAGCCTGGGCAGCATAGGGAGACCCCGCCTCTACCAAAAAAAAAAAAAAAAAAAAAAAAATTAGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGAGAGGCTGAGGCGGGCAGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGAGCAATATAGTGAAACCCTGTCTCTATAAAAAAAATAACAAAATATTGGCCAGGTGTGGTGGCACGTGCCTGTAGTCCCAGCTGCATGGGAAGCTGAGGAAGGAGGATTGCTTGAGCCGAGGGGGCAGAGGCTGCAGTGAGCCACTATACTCCAGCTTCACTGACAGAGCGAGACCCTTCTCAAAAAATAATAACAATAATATACACATGACCCCTAACCTCTAAACTCCTGACCTCTGTACACTTGACCCCTAATCTGACCTTGACAACCATGATCACATTCCTGATCATCACCCAACTTTCACACCCCTGACACCCAGAGCCTGGACCCTGGACCTCTCCATCCCTGAGTTCCGGGACCCCCCTGTACCTACACAGGAGCGAGTCCCAGTCCCAGCTCTGCCCTTGGCCATTGTGTGACCTCGGACAAATGCTTTTCCCTCTCTGCGTCTCGGTCTCCCTCTCTGTAAAACGGGTGGGTCTGGGGGAGTCTTGCGGGAGTGAGGTTGCGGCAGTGACGTTGCGGCAGTTAGCGCTCCCAGCCGTGGCTGACAGCTGCGAGGTCCCTGTAGGAGCCTGGACAGCTTCAGCGGGAAGCCACGGGGCTCGGGGCCACCCGCTGGCACGGCGCTGCCCATCGAGGGCGTTATCCTGAGCCTGCAGGACCTCATCATCTACTTCGAGCCTCCCTCCGAGGACTTGCAGCACGAGGAGAAGCAGAGCAAGCTGCGAAGCCTGCGCAACCGCCAGAGCCTCTTCCAGGAGGAGGTGAGGACGTGGCGAGGGCGGAGCGGGGCCTGTGGGCCCAGGGGGCGGGACCACTGAGGGGCGGGGCCACGGCGCTGGGCGGGGCAGGGCCTGAGGGACCTGGGGAAGTAGGGTCTGAGAAGGGGGCGGGGCAGGAGAAGGAGCCGGACAGGAACCCCAGCCAGTGAGAACACGATGGGGCGGGGCCTTGGGAGGGGCGGGCCTGCTGTGCTGGTGGGCAGGACCTTTGGGAAGGGGCAGGGCGTATGGCCGACCAGGGGGCGGGGCCTGGAGAGAAGGATGGAATAAAAGAGCTGAGGGGCGGGGCCTATGTGAAGCTCAGGTATAGGGTGAGGCCTGGGGAGGTGAGGCCAGGAGTGGGGCCAGAGGTCAGAGGTAGGGCTGCCGACTCAGCGGGCGGGGTCTGCTGGCGCGGGGTCTGTGGGGTGGGCGGACAGAATCAGTGTGGGGTATGGGAGGTGCCGAGGCAGAAATAGATCTTTGGGCATTAGGGAGGGGAGGCCAGCTGTGAACAAAACAGAAAAAAATCTCTGTCCTTATGGAGTTGACATGGCGGGGAGAGACAGGAGATCAATAAAATAAATAAGTAAATTGTATGGCATATTAGATGGTAATAACTGTTAAAGAGAAAAATTCAGCAGGTAAGGGGTAGGGAGTGTTGGGGTTTTGCAGTTTAAGACAGAGCTGTCAGACAGGGTGACCTGGAGGAAGAGAGGAAGCCATGTGCAAAGGCCATGAGGTGGGCGGGTGTTTGGCATGTTCCAGAAACAGTCAGGTGGTGATTGGAGCAGGGAGGCTTGGGTGGGGGAGTGGGAGGAAATGAGGGCAGAGAGGTGACGAGGGCCAGGCCTTGGTGAGGACTTTGGCTTTGGGAGCCACAGGAGGTTTTGGTCCTCTACAGTCACAGCTAGTTAGTGGCAGAGCCGGTCAGTGTGATGCCACTTTGGTTGTGCTCTCCACTTTGAGGCACTGCTCCTCTCACTACTGATCTAGGCCCCAGGATGCAGATACAACAATTGTTTTGTTTTGTCTTGTTTTTTGAAACAGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAATGATTCTCCTGCCTCCTCAGCCTCCCAAGTAGCTGAAACTACAGGTGTGAGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTCGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCCACCTCCCAAAGAGCTGGGATTACAGGCGTGAGCCACTGCACCCAGACAGTTTTGTCCTTTTTGTTGATTTCACTGTTTATAATGTCTCCCAAGTGTAGTGCTGAAGTGCTGTCTAGCTTTCCTAAGTGCAAGAAAGCTATGATGTGCCTTACTGAGAAAATATGTGTTAGATAAGCTTAATTAAGGCATGAGTTATAGTACTGTTGGCTGTGAATTTAATGTTAATGACTCAACAATATATATTAAATAACTGTCTTTAAACAGAAACATAAAAAACAAGGTTATGTAATAAGTGGTTGATGAAAATACTGTCACAGACTCTCAGGGACTCCCTGTATTTCCCCTAGAAGCAGTGGTTCAGTATTTGATAATTCAGTCTTCATAATCACTTTATAGAACATAACTATGAATAATGAGAATTGATTGTATATGTTTTATGTACTTTTCTGTATGTATATTATGATTCACAATGAAATAAGAAAAAATATTAAAATGTAAAAAAAAAAAGAAAAGAAAAGATAAAGTGAGAAAAATCTTTCTGATGGTTGGTGTGGAGAATGAACTGGGCCTCTCCAGTTGGTGGGAGTGGGGTTCCAGTTGGATGGTTGGTGGGAGTGGGGTTCCTGGAAGTGAGTAGGATGGAGAGAAAAGTGCAGGAAGGGGAAGTATAA 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CATGCAAGCTTGTAGCTCGATTTTCCAGGCTGCTCTTTGTTAGAAAAGAAATTATTTTGGGGGCTGCTTTCCGTTAGAAAGGAAACTCTGCCGAGGACTCTGTTGCCCTTACTCTCTGCCTAAATAATTTTTTTCTACCTCTTGTATCAGTGCCATCAACCAAGTTAGGGGACAGTCAGTGTTGGCTCAGAAGGACAGGGATCTTAGGCTTTACTGCCAGTGCCTAGAACAGAGCCACTTACTACAGCCTTGCTGAATGGACAAGTAGGAATCCTTGGGGAGGCACTCGTTTGCAAAAACAGGCCTGTAGTTGAATACATGAGCCAAGGGCGTAGAGACGGGGCCTGGGCCATGTCCAAAGTGGGGACACGTGAGCATCATCAGCAGGTGGATGGTGTTTACAGCCGCAGACTGGATGAGTTCTGGGGAGGTCGGCTTGGGGTGAAGCTGGCAGCCATGATGGTCTCACCTCGTGGAAAGGTGGTCTGGCATTCTATCTGGGACAGGTTCAATTTGGGGGTTAGAGCTTTCTGGTCGGGGGGAATGTTAAGTCAGCAGTAGGTACAGGTGGAAAGGGTCTGGCCTGGAGACAGAGACAGGAAGGAGATAGGGATAGAGAGATAGAGAGGGAGAGGCAGGGACAGAGGTGAGAGAGATAGAGAGACAAAGACAGACAAAACCAAAAACAGGGACAGAGAGAGACAGAGAGGAGAGAGAGAATCAAAGACACAGAGGAGACAGATGACGGGGGACAGAAAAATGAGGAGGAATTTGCAGTGAGATTCTGCAGAGCAGGGAGGAGGGGGCAAGTGCAGAACTCAAGTCTAGACAGACGTCTTGGGGGCATGGCCCTGGGTGGCTGGGCCCACTCCAGACCTCTGTCTCCCCACTCCTAGGCCATGCTGCACCAGGAGGGCCACATGGACGACGCACTGTCGCTGACCCGCTGCCAGCAGGAGGAGTCCCAGGCCGCCCGCATGATCCACAGCACCAATGGCCTATACAACCAGTTCATCAAGTGAGCAACCTGCCCTCCCTGCTGGGGTGACTCCTGTGCTGTCCCATGCTCCGGGCATCCATACACTTGGCCTCTTTCATCTCTACCTCTGTTGCCCACACCCTTGTCTAACATATACATGGGCCAAGCGCAGTGGCTCACACCTGTAATCCCAAGACTTTGGGAGGGCAAGGCATGAGGATCGCTTGGGCCCAGGAGCTTGAGACCAGCCTGGGCAGCATAGGGAGACCCCGCCTCTACCAAAAAAAAAAAAAAAAAAAAAAAAATTAGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGAGAGGCTGAGGCGGGCAGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGAGCAATATAGTGAAACCCTGTCTCTATAAAAAAAATAACAAAATATTGGCCAGGTGTGGTGGCACGTGCCTGTAGTCCCAGCTGCATGGGAAGCTGAGGAAGGAGGATTGCTTGAGCCGAGGGGGCAGAGGCTGCAGTGAGCCACTATACTCCAGCTTCACTGACAGAGCGAGACCCTTCTCAAAAAATAATAACAATAATATACACATGACCCCTAACCTCTAAACTCCTGACCTCTGTACACTTGACCCCTAATCTGACCTTGACAACCATGATCACATTCCTGATCATCACCCAACTTTCACACCCCTGACACCCAGAGCCTGGACCCTGGACCTCTCCATCCCTGAGTTCCGGGACCCCCCTGTACCTACACAGGAGCGAGTCCCAGTCCCAGCTCTGCCCTTGGCCATTGTGTGACCTCGGACAAATGCTTTTCCCTCTCTGCGTCTCGGTCTCCCTCTCTGTAAAACGGGTGGGTCTGGGGGAGTCTTGCGGGAGTGAGGTTGCGGCAGTGACGTTGCGGCAGTTAGCGCTCCCAGCCGTGGCTGACAGCTGCGAGGTCCCTGTAGGAGCCTGGACAGCTTCAGCGGGAAGCCACGGGGCTCGGGGCCACCCGCTGGCACGGCGCTGCCCATCGAGGGCGTTATCCTGAGCCTGCAGGACCTCTTCATCTACTTCGAGCCTCCCTCCGAGGACTTGCAGCACGAGGAGAAGCAGAGCAAGCTGCGAAGCCTGCGCAACCGCCAGAGCCTCTTCCAGGAGGAGGTGAGGACGTGGCGAGGGCGGAGCGGGGCCTGTGGGCCCAGGGGGCGGGACCACTGAGGGGCGGGGCCACGGCGCTGGGCGGGGCAGGGCCTGAGGGACCTGGGGAAGTAGGGTCTGAGAAGGGGGCGGGGCAGGAGAAGGAGCCGGACAGGAACCCCAGCCAGTGAGAACACGATGGGGCGGGGCCTTGGGAGGGGCGGGCCTGCTGTGCTGGTGGGCAGGACCTTTGGGAAGGGGCAGGGCGTATGGCCGACCAGGGGGCGGGGCCTGGAGAGAAGGATGGAATAAAAGAGCTGAGGGGCGGGGCCTATGTGAAGCTCAGGTATAGGGTGAGGCCTGGGGAGGTGAGGCCAGGAGTGGGGCCAGAGGTCAGAGGTAGGGCTGCCGACTCAGCGGGCGGGGTCTGCTGGCGCGGGGTCTGTGGGGTGGGCGGACAGAATCAGTGTGGGGTATGGGAGGTGCCGAGGCAGAAATAGATCTTTGGGCATTAGGGAGGGGAGGCCAGCTGTGAACAAAACAGAAAAAAATCTCTGTCCTTATGGAGTTGACATGGCGGGGAGAGACAGGAGATCAATAAAATAAATAAGTAAATTGTATGGCATATTAGATGGTAATAACTGTTAAAGAGAAAAATTCAGCAGGTAAGGGGTAGGGAGTGTTGGGGTTTTGCAGTTTAAGACAGAGCTGTCAGACAGGGTGACCTGGAGGAAGAGAGGAAGCCATGTGCAAAGGCCATGAGGTGGGCGGGTGTTTGGCATGTTCCAGAAACAGTCAGGTGGTGATTGGAGCAGGGAGGCTTGGGTGGGGGAGTGGGAGGAAATGAGGGCAGAGAGGTGACGAGGGCCAGGCCTTGGTGAGGACTTTGGCTTTGGGAGCCACAGGAGGTTTTGGTCCTCTACAGTCACAGCTAGTTAGTGGCAGAGCCGGTCAGTGTGATGCCACTTTGGTTGTGCTCTCCACTTTGAGGCACTGCTCCTCTCACTACTGATCTAGGCCCCAGGATGCAGATACAACAATTGTTTTGTTTTGTCTTGTTTTTTGAAACAGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAATGATTCTCCTGCCTCCTCAGCCTCCCAAGTAGCTGAAACTACAGGTGTGAGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTCGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCCACCTCCCAAAGAGCTGGGATTACAGGCGTGAGCCACTGCACCCAGACAGTTTTGTCCTTTTTGTTGATTTCACTGTTTATAATGTCTCCCAAGTGTAGTGCTGAAGTGCTGTCTAGCTTTCCTAAGTGCAAGAAAGCTATGATGTGCCTTACTGAGAAAATATGTGTTAGATAAGCTTAATTAAGGCATGAGTTATAGTACTGTTGGCTGTGAATTTAATGTTAATGACTCAACAATATATATTAAATAACTGTCTTTAAACAGAAACATAAAAAACAAGGTTATGTAATAAGTGGTTGATGAAAATACTGTCACAGACTCTCAGGGACTCCCTGTATTTCCCCTAGAAGCAGTGGTTCAGTATTTGATAATTCAGTCTTCATAATCACTTTATAGAACATAACTATGAATAATGAGAATTGATTGTATATGTTTTATGTACTTTTCTGTATGTATATTATGATTCACAATGAAATAAGAAAAAATATTAAAATGTAAAAAAAAAAAGAAAAGAAAAGATAAAGTGAGAAAAATCTTTCTGATGGTTGGTGTGGAGAATGAACTGGGCCTCTCCAGTTGGTGGGAGTGGGGTTCCAGTTGGATGGTTGGTGGGAGTGGGGTTCCTGGAAGTGAGTAGGATGGAGAGAAAAGTGCAGGAAGGGGAAGTATAA 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Task1_train_27084 | A genomic change on Chromosome 19 affects RYR1 (ryanodine receptor 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Centronuclear myopathy | CATGCAAGCTTGTAGCTCGATTTTCCAGGCTGCTCTTTGTTAGAAAAGAAATTATTTTGGGGGCTGCTTTCCGTTAGAAAGGAAACTCTGCCGAGGACTCTGTTGCCCTTACTCTCTGCCTAAATAATTTTTTTCTACCTCTTGTATCAGTGCCATCAACCAAGTTAGGGGACAGTCAGTGTTGGCTCAGAAGGACAGGGATCTTAGGCTTTACTGCCAGTGCCTAGAACAGAGCCACTTACTACAGCCTTGCTGAATGGACAAGTAGGAATCCTTGGGGAGGCACTCGTTTGCAAAAACAGGCCTGTAGTTGAATACATGAGCCAAGGGCGTAGAGACGGGGCCTGGGCCATGTCCAAAGTGGGGACACGTGAGCATCATCAGCAGGTGGATGGTGTTTACAGCCGCAGACTGGATGAGTTCTGGGGAGGTCGGCTTGGGGTGAAGCTGGCAGCCATGATGGTCTCACCTCGTGGAAAGGTGGTCTGGCATTCTATCTGGGACAGGTTCAATTTGGGGGTTAGAGCTTTCTGGTCGGGGGGAATGTTAAGTCAGCAGTAGGTACAGGTGGAAAGGGTCTGGCCTGGAGACAGAGACAGGAAGGAGATAGGGATAGAGAGATAGAGAGGGAGAGGCAGGGACAGAGGTGAGAGAGATAGAGAGACAAAGACAGACAAAACCAAAAACAGGGACAGAGAGAGACAGAGAGGAGAGAGAGAATCAAAGACACAGAGGAGACAGATGACGGGGGACAGAAAAATGAGGAGGAATTTGCAGTGAGATTCTGCAGAGCAGGGAGGAGGGGGCAAGTGCAGAACTCAAGTCTAGACAGACGTCTTGGGGGCATGGCCCTGGGTGGCTGGGCCCACTCCAGACCTCTGTCTCCCCACTCCTAGGCCATGCTGCACCAGGAGGGCCACATGGACGACGCACTGTCGCTGACCCGCTGCCAGCAGGAGGAGTCCCAGGCCGCCCGCATGATCCACAGCACCAATGGCCTATACAACCAGTTCATCAAGTGAGCAACCTGCCCTCCCTGCTGGGGTGACTCCTGTGCTGTCCCATGCTCCGGGCATCCATACACTTGGCCTCTTTCATCTCTACCTCTGTTGCCCACACCCTTGTCTAACATATACATGGGCCAAGCGCAGTGGCTCACACCTGTAATCCCAAGACTTTGGGAGGGCAAGGCATGAGGATCGCTTGGGCCCAGGAGCTTGAGACCAGCCTGGGCAGCATAGGGAGACCCCGCCTCTACCAAAAAAAAAAAAAAAAAAAAAAAAATTAGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGAGAGGCTGAGGCGGGCAGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGAGCAATATAGTGAAACCCTGTCTCTATAAAAAAAATAACAAAATATTGGCCAGGTGTGGTGGCACGTGCCTGTAGTCCCAGCTGCATGGGAAGCTGAGGAAGGAGGATTGCTTGAGCCGAGGGGGCAGAGGCTGCAGTGAGCCACTATACTCCAGCTTCACTGACAGAGCGAGACCCTTCTCAAAAAATAATAACAATAATATACACATGACCCCTAACCTCTAAACTCCTGACCTCTGTACACTTGACCCCTAATCTGACCTTGACAACCATGATCACATTCCTGATCATCACCCAACTTTCACACCCCTGACACCCAGAGCCTGGACCCTGGACCTCTCCATCCCTGAGTTCCGGGACCCCCCTGTACCTACACAGGAGCGAGTCCCAGTCCCAGCTCTGCCCTTGGCCATTGTGTGACCTCGGACAAATGCTTTTCCCTCTCTGCGTCTCGGTCTCCCTCTCTGTAAAACGGGTGGGTCTGGGGGAGTCTTGCGGGAGTGAGGTTGCGGCAGTGACGTTGCGGCAGTTAGCGCTCCCAGCCGTGGCTGACAGCTGCGAGGTCCCTGTAGGAGCCTGGACAGCTTCAGCGGGAAGCCACGGGGCTCGGGGCCACCCGCTGGCACGGCGCTGCCCATCGAGGGCGTTATCCTGAGCCTGCAGGACCTCATCATCTACTTCGAGCCTCCCTCCGAGGACTTGCAGCACGAGGAGAAGCAGAGCAAGCTGCGAAGCCTGCGCAACCGCCAGAGCCTCTTCCAGGAGGAGGTGAGGACGTGGCGAGGGCGGAGCGGGGCCTGTGGGCCCAGGGGGCGGGACCACTGAGGGGCGGGGCCACGGCGCTGGGCGGGGCAGGGCCTGAGGGACCTGGGGAAGTAGGGTCTGAGAAGGGGGCGGGGCAGGAGAAGGAGCCGGACAGGAACCCCAGCCAGTGAGAACACGATGGGGCGGGGCCTTGGGAGGGGCGGGCCTGCTGTGCTGGTGGGCAGGACCTTTGGGAAGGGGCAGGGCGTATGGCCGACCAGGGGGCGGGGCCTGGAGAGAAGGATGGAATAAAAGAGCTGAGGGGCGGGGCCTATGTGAAGCTCAGGTATAGGGTGAGGCCTGGGGAGGTGAGGCCAGGAGTGGGGCCAGAGGTCAGAGGTAGGGCTGCCGACTCAGCGGGCGGGGTCTGCTGGCGCGGGGTCTGTGGGGTGGGCGGACAGAATCAGTGTGGGGTATGGGAGGTGCCGAGGCAGAAATAGATCTTTGGGCATTAGGGAGGGGAGGCCAGCTGTGAACAAAACAGAAAAAAATCTCTGTCCTTATGGAGTTGACATGGCGGGGAGAGACAGGAGATCAATAAAATAAATAAGTAAATTGTATGGCATATTAGATGGTAATAACTGTTAAAGAGAAAAATTCAGCAGGTAAGGGGTAGGGAGTGTTGGGGTTTTGCAGTTTAAGACAGAGCTGTCAGACAGGGTGACCTGGAGGAAGAGAGGAAGCCATGTGCAAAGGCCATGAGGTGGGCGGGTGTTTGGCATGTTCCAGAAACAGTCAGGTGGTGATTGGAGCAGGGAGGCTTGGGTGGGGGAGTGGGAGGAAATGAGGGCAGAGAGGTGACGAGGGCCAGGCCTTGGTGAGGACTTTGGCTTTGGGAGCCACAGGAGGTTTTGGTCCTCTACAGTCACAGCTAGTTAGTGGCAGAGCCGGTCAGTGTGATGCCACTTTGGTTGTGCTCTCCACTTTGAGGCACTGCTCCTCTCACTACTGATCTAGGCCCCAGGATGCAGATACAACAATTGTTTTGTTTTGTCTTGTTTTTTGAAACAGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAATGATTCTCCTGCCTCCTCAGCCTCCCAAGTAGCTGAAACTACAGGTGTGAGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTCGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCCACCTCCCAAAGAGCTGGGATTACAGGCGTGAGCCACTGCACCCAGACAGTTTTGTCCTTTTTGTTGATTTCACTGTTTATAATGTCTCCCAAGTGTAGTGCTGAAGTGCTGTCTAGCTTTCCTAAGTGCAAGAAAGCTATGATGTGCCTTACTGAGAAAATATGTGTTAGATAAGCTTAATTAAGGCATGAGTTATAGTACTGTTGGCTGTGAATTTAATGTTAATGACTCAACAATATATATTAAATAACTGTCTTTAAACAGAAACATAAAAAACAAGGTTATGTAATAAGTGGTTGATGAAAATACTGTCACAGACTCTCAGGGACTCCCTGTATTTCCCCTAGAAGCAGTGGTTCAGTATTTGATAATTCAGTCTTCATAATCACTTTATAGAACATAACTATGAATAATGAGAATTGATTGTATATGTTTTATGTACTTTTCTGTATGTATATTATGATTCACAATGAAATAAGAAAAAATATTAAAATGTAAAAAAAAAAAGAAAAGAAAAGATAAAGTGAGAAAAATCTTTCTGATGGTTGGTGTGGAGAATGAACTGGGCCTCTCCAGTTGGTGGGAGTGGGGTTCCAGTTGGATGGTTGGTGGGAGTGGGGTTCCTGGAAGTGAGTAGGATGGAGAGAAAAGTGCAGGAAGGGGAAGTATAA 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CATGCAAGCTTGTAGCTCGATTTTCCAGGCTGCTCTTTGTTAGAAAAGAAATTATTTTGGGGGCTGCTTTCCGTTAGAAAGGAAACTCTGCCGAGGACTCTGTTGCCCTTACTCTCTGCCTAAATAATTTTTTTCTACCTCTTGTATCAGTGCCATCAACCAAGTTAGGGGACAGTCAGTGTTGGCTCAGAAGGACAGGGATCTTAGGCTTTACTGCCAGTGCCTAGAACAGAGCCACTTACTACAGCCTTGCTGAATGGACAAGTAGGAATCCTTGGGGAGGCACTCGTTTGCAAAAACAGGCCTGTAGTTGAATACATGAGCCAAGGGCGTAGAGACGGGGCCTGGGCCATGTCCAAAGTGGGGACACGTGAGCATCATCAGCAGGTGGATGGTGTTTACAGCCGCAGACTGGATGAGTTCTGGGGAGGTCGGCTTGGGGTGAAGCTGGCAGCCATGATGGTCTCACCTCGTGGAAAGGTGGTCTGGCATTCTATCTGGGACAGGTTCAATTTGGGGGTTAGAGCTTTCTGGTCGGGGGGAATGTTAAGTCAGCAGTAGGTACAGGTGGAAAGGGTCTGGCCTGGAGACAGAGACAGGAAGGAGATAGGGATAGAGAGATAGAGAGGGAGAGGCAGGGACAGAGGTGAGAGAGATAGAGAGACAAAGACAGACAAAACCAAAAACAGGGACAGAGAGAGACAGAGAGGAGAGAGAGAATCAAAGACACAGAGGAGACAGATGACGGGGGACAGAAAAATGAGGAGGAATTTGCAGTGAGATTCTGCAGAGCAGGGAGGAGGGGGCAAGTGCAGAACTCAAGTCTAGACAGACGTCTTGGGGGCATGGCCCTGGGTGGCTGGGCCCACTCCAGACCTCTGTCTCCCCACTCCTAGGCCATGCTGCACCAGGAGGGCCACATGGACGACGCACTGTCGCTGACCCGCTGCCAGCAGGAGGAGTCCCAGGCCGCCCGCATGATCCACAGCACCAATGGCCTATACAACCAGTTCATCAAGTGAGCAACCTGCCCTCCCTGCTGGGGTGACTCCTGTGCTGTCCCATGCTCCGGGCATCCATACACTTGGCCTCTTTCATCTCTACCTCTGTTGCCCACACCCTTGTCTAACATATACATGGGCCAAGCGCAGTGGCTCACACCTGTAATCCCAAGACTTTGGGAGGGCAAGGCATGAGGATCGCTTGGGCCCAGGAGCTTGAGACCAGCCTGGGCAGCATAGGGAGACCCCGCCTCTACCAAAAAAAAAAAAAAAAAAAAAAAAATTAGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGAGAGGCTGAGGCGGGCAGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGAGCAATATAGTGAAACCCTGTCTCTATAAAAAAAATAACAAAATATTGGCCAGGTGTGGTGGCACGTGCCTGTAGTCCCAGCTGCATGGGAAGCTGAGGAAGGAGGATTGCTTGAGCCGAGGGGGCAGAGGCTGCAGTGAGCCACTATACTCCAGCTTCACTGACAGAGCGAGACCCTTCTCAAAAAATAATAACAATAATATACACATGACCCCTAACCTCTAAACTCCTGACCTCTGTACACTTGACCCCTAATCTGACCTTGACAACCATGATCACATTCCTGATCATCACCCAACTTTCACACCCCTGACACCCAGAGCCTGGACCCTGGACCTCTCCATCCCTGAGTTCCGGGACCCCCCTGTACCTACACAGGAGCGAGTCCCAGTCCCAGCTCTGCCCTTGGCCATTGTGTGACCTCGGACAAATGCTTTTCCCTCTCTGCGTCTCGGTCTCCCTCTCTGTAAAACGGGTGGGTCTGGGGGAGTCTTGCGGGAGTGAGGTTGCGGCAGTGACGTTGCGGCAGTTAGCGCTCCCAGCCGTGGCTGACAGCTGCGAGGTCCCTGTAGGAGCCTGGACAGCTTCAGCGGGAAGCCACGGGGCTCGGGGCCACCCGCTGGCACGGCGCTGCCCATCGAGGGCGTTATCCTGAGCCTGCAGGACCTCTTCATCTACTTCGAGCCTCCCTCCGAGGACTTGCAGCACGAGGAGAAGCAGAGCAAGCTGCGAAGCCTGCGCAACCGCCAGAGCCTCTTCCAGGAGGAGGTGAGGACGTGGCGAGGGCGGAGCGGGGCCTGTGGGCCCAGGGGGCGGGACCACTGAGGGGCGGGGCCACGGCGCTGGGCGGGGCAGGGCCTGAGGGACCTGGGGAAGTAGGGTCTGAGAAGGGGGCGGGGCAGGAGAAGGAGCCGGACAGGAACCCCAGCCAGTGAGAACACGATGGGGCGGGGCCTTGGGAGGGGCGGGCCTGCTGTGCTGGTGGGCAGGACCTTTGGGAAGGGGCAGGGCGTATGGCCGACCAGGGGGCGGGGCCTGGAGAGAAGGATGGAATAAAAGAGCTGAGGGGCGGGGCCTATGTGAAGCTCAGGTATAGGGTGAGGCCTGGGGAGGTGAGGCCAGGAGTGGGGCCAGAGGTCAGAGGTAGGGCTGCCGACTCAGCGGGCGGGGTCTGCTGGCGCGGGGTCTGTGGGGTGGGCGGACAGAATCAGTGTGGGGTATGGGAGGTGCCGAGGCAGAAATAGATCTTTGGGCATTAGGGAGGGGAGGCCAGCTGTGAACAAAACAGAAAAAAATCTCTGTCCTTATGGAGTTGACATGGCGGGGAGAGACAGGAGATCAATAAAATAAATAAGTAAATTGTATGGCATATTAGATGGTAATAACTGTTAAAGAGAAAAATTCAGCAGGTAAGGGGTAGGGAGTGTTGGGGTTTTGCAGTTTAAGACAGAGCTGTCAGACAGGGTGACCTGGAGGAAGAGAGGAAGCCATGTGCAAAGGCCATGAGGTGGGCGGGTGTTTGGCATGTTCCAGAAACAGTCAGGTGGTGATTGGAGCAGGGAGGCTTGGGTGGGGGAGTGGGAGGAAATGAGGGCAGAGAGGTGACGAGGGCCAGGCCTTGGTGAGGACTTTGGCTTTGGGAGCCACAGGAGGTTTTGGTCCTCTACAGTCACAGCTAGTTAGTGGCAGAGCCGGTCAGTGTGATGCCACTTTGGTTGTGCTCTCCACTTTGAGGCACTGCTCCTCTCACTACTGATCTAGGCCCCAGGATGCAGATACAACAATTGTTTTGTTTTGTCTTGTTTTTTGAAACAGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAATGATTCTCCTGCCTCCTCAGCCTCCCAAGTAGCTGAAACTACAGGTGTGAGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTCGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCCACCTCCCAAAGAGCTGGGATTACAGGCGTGAGCCACTGCACCCAGACAGTTTTGTCCTTTTTGTTGATTTCACTGTTTATAATGTCTCCCAAGTGTAGTGCTGAAGTGCTGTCTAGCTTTCCTAAGTGCAAGAAAGCTATGATGTGCCTTACTGAGAAAATATGTGTTAGATAAGCTTAATTAAGGCATGAGTTATAGTACTGTTGGCTGTGAATTTAATGTTAATGACTCAACAATATATATTAAATAACTGTCTTTAAACAGAAACATAAAAAACAAGGTTATGTAATAAGTGGTTGATGAAAATACTGTCACAGACTCTCAGGGACTCCCTGTATTTCCCCTAGAAGCAGTGGTTCAGTATTTGATAATTCAGTCTTCATAATCACTTTATAGAACATAACTATGAATAATGAGAATTGATTGTATATGTTTTATGTACTTTTCTGTATGTATATTATGATTCACAATGAAATAAGAAAAAATATTAAAATGTAAAAAAAAAAAGAAAAGAAAAGATAAAGTGAGAAAAATCTTTCTGATGGTTGGTGTGGAGAATGAACTGGGCCTCTCCAGTTGGTGGGAGTGGGGTTCCAGTTGGATGGTTGGTGGGAGTGGGGTTCCTGGAAGTGAGTAGGATGGAGAGAAAAGTGCAGGAAGGGGAAGTATAA 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Task1_train_27085 | This variant lies on Chromosome 19 and affects the gene RYR1 (ryanodine receptor 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; RYR1-related disorder | TGGGCATTAGGGAGGGGAGGCCAGCTGTGAACAAAACAGAAAAAAATCTCTGTCCTTATGGAGTTGACATGGCGGGGAGAGACAGGAGATCAATAAAATAAATAAGTAAATTGTATGGCATATTAGATGGTAATAACTGTTAAAGAGAAAAATTCAGCAGGTAAGGGGTAGGGAGTGTTGGGGTTTTGCAGTTTAAGACAGAGCTGTCAGACAGGGTGACCTGGAGGAAGAGAGGAAGCCATGTGCAAAGGCCATGAGGTGGGCGGGTGTTTGGCATGTTCCAGAAACAGTCAGGTGGTGATTGGAGCAGGGAGGCTTGGGTGGGGGAGTGGGAGGAAATGAGGGCAGAGAGGTGACGAGGGCCAGGCCTTGGTGAGGACTTTGGCTTTGGGAGCCACAGGAGGTTTTGGTCCTCTACAGTCACAGCTAGTTAGTGGCAGAGCCGGTCAGTGTGATGCCACTTTGGTTGTGCTCTCCACTTTGAGGCACTGCTCCTCTCACTACTGATCTAGGCCCCAGGATGCAGATACAACAATTGTTTTGTTTTGTCTTGTTTTTTGAAACAGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAATGATTCTCCTGCCTCCTCAGCCTCCCAAGTAGCTGAAACTACAGGTGTGAGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTCGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCCACCTCCCAAAGAGCTGGGATTACAGGCGTGAGCCACTGCACCCAGACAGTTTTGTCCTTTTTGTTGATTTCACTGTTTATAATGTCTCCCAAGTGTAGTGCTGAAGTGCTGTCTAGCTTTCCTAAGTGCAAGAAAGCTATGATGTGCCTTACTGAGAAAATATGTGTTAGATAAGCTTAATTAAGGCATGAGTTATAGTACTGTTGGCTGTGAATTTAATGTTAATGACTCAACAATATATATTAAATAACTGTCTTTAAACAGAAACATAAAAAACAAGGTTATGTAATAAGTGGTTGATGAAAATACTGTCACAGACTCTCAGGGACTCCCTGTATTTCCCCTAGAAGCAGTGGTTCAGTATTTGATAATTCAGTCTTCATAATCACTTTATAGAACATAACTATGAATAATGAGAATTGATTGTATATGTTTTATGTACTTTTCTGTATGTATATTATGATTCACAATGAAATAAGAAAAAATATTAAAATGTAAAAAAAAAAAGAAAAGAAAAGATAAAGTGAGAAAAATCTTTCTGATGGTTGGTGTGGAGAATGAACTGGGCCTCTCCAGTTGGTGGGAGTGGGGTTCCAGTTGGATGGTTGGTGGGAGTGGGGTTCCTGGAAGTGAGTAGGATGGAGAGAAAAGTGCAGGAAGGGGAAGTATAAACTCAGTCCTGGTGTTAATAAGGACTGAATTATCATAGACTGAATCTCATATTGGGGATAGAGTCAGAGAGGACAAGAATAGATATGGGGAGCCAAGGAGGAGAGGAGAGCAATGGGACTGATTGGGAATATGAAACCAAAGGGGCTGATTTAGATCTGGGAACACACCGTCACTAGTTGTTGAAGGAATATGAATTCGTGAATCCAAGAAAGACAAGGAAGGGAGGGCCTGGGTCTCCTATTGTGATGCCTCTTATTTTCCTCATCCTAGGGGATGCTCTCCATGGTCCTGAATTGCATAGACCGCCTAAATGTCTACACCACTGCTGCCCACTTTGCTGAGTTTGCAGGGGAGGAGGCAGCCGAGTCCTGGAAAGAGATTGTGAATCTTCTCTATGAACTCCTAGGTAGGGGTCCCAGTCCTGACTCCCCTGAGAACACCCCAGATCCCCAGTCCTATTGGATCTGACACCTCTTCCCCCCTCAGCTTCTCTAATCCGTGGCAATCGTAGCAACTGTGCCCTCTTCTCCACAAACTTGGACTGGCTGGTCAGCAAGCTGGATCGGCTGGAGGCCTCGTCTGGTAGGAGAACCCGGGGGAGTGGGACAGAGGCTTGTGGGAGGGGATGGGCATGGCCGCTTCACCTCTCATTCTGGGCACCCTGGCAGGCATCCTGGAGGTCCTGTACTGTGTCCTCATTGAGAGTCCAGAGGTTCTGAACATCATCCAGGAGAATCACATCAAGTCCATCATCTCCCTCCTGGACAAGCATGGGAGGAACCACAAGGTCGGCCCCTCACCCCTGACCTCTCATCCCCTGAACTCTGAATGCTGGCCTCTCCCCAGGGCTCCAGAACTCTGCTCACTCCCTCACTTCCCTCCTCCATCTCATCTCTCACCTGTACGCCACTCCCACTGGCTTTCATCTCCACACAGGGGTCTCAAACAATGACTCTTAAGTTGATTCTGGGCCACAGATGTGCTTGGTTAGATCTCTGAAATGTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACACTGTCGCTCAGACTGGAGTGTAGTGGCGCTATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCGGCCTCCCAAGTAGCTGGGACTACAGGCACACACCACCACGCCCAGCTAATTTTTGTATTTTTTTTTTAGTAGAGACAGGGTTTCACAATGTTGGCCAGGATGGTCTCGATCTCTTGGCTTCATGATCCGTCCACCTCAGCCTCCCAAATGCTGGAATTACAGGCGTGAACCACCAGCGCCTGGCATTTTTTTTTTTTTTTTTTTGATACAGAGTCTCGCTCTGTCACCCAGACTGGAGTGGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTGTAATTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGTCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCCACCGGTGGCGCTGAAATGTTTTTAAAATTTTCAAATATTACAGCCTCTAGGTGGACTGTATATATATACACACACTCTGTAGTTTGCCATAGCCCTACAAGTTCCTGTTGCATTATTTCTAACCACTTCACACATTTATTCAGTCGGAGCAAAAGTAATTGCAGTTTTGCTATTAAAAGGAATGACAGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGATGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAAGGAATAACAAAAACCAGAATTACTTTTGCTCCAGCCTAATACATTTTCCACTTGGCCCCTAAAGACACAAGTTTGCAACCCCTGCTGATTTAAAATTTCATCTTGATTCCTGTGTCTCTCACTGGTCGTTTCAGTCTGCCTTCTGACCTCTTACCTCACTACTCCAGTATCTCCTTCCTTACATTGCTGATACCTTATCCCAACTCATGTGACCCTCCCTCAGCCTCTTGCCAGATCTTCCTCTTTGACCCCTAACCTTTCTCTGATCCCTGACCTTCCACTTTCACCACCTCCTCTCAGTCAAAATTGCCACATCTTATCCCGATGCGCTGTCCTTTCCTCCTGGCTTCCCTCCCTCCCAGGGTTCTTCTGTAGATCCTGCCCTGGTGCCTACACACCCTTTAACCTCTGACCTTGACCTCTAGGTCCTGGACGTGCTATGCTCCCTGTGTGTGTGTAATGGTGTGGCTGTACGCTCCAACCAAGATCTTATTACTGAGAACTTGCTGCCTGGCCGTGA 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TGGGCATTAGGGAGGGGAGGCCAGCTGTGAACAAAACAGAAAAAAATCTCTGTCCTTATGGAGTTGACATGGCGGGGAGAGACAGGAGATCAATAAAATAAATAAGTAAATTGTATGGCATATTAGATGGTAATAACTGTTAAAGAGAAAAATTCAGCAGGTAAGGGGTAGGGAGTGTTGGGGTTTTGCAGTTTAAGACAGAGCTGTCAGACAGGGTGACCTGGAGGAAGAGAGGAAGCCATGTGCAAAGGCCATGAGGTGGGCGGGTGTTTGGCATGTTCCAGAAACAGTCAGGTGGTGATTGGAGCAGGGAGGCTTGGGTGGGGGAGTGGGAGGAAATGAGGGCAGAGAGGTGACGAGGGCCAGGCCTTGGTGAGGACTTTGGCTTTGGGAGCCACAGGAGGTTTTGGTCCTCTACAGTCACAGCTAGTTAGTGGCAGAGCCGGTCAGTGTGATGCCACTTTGGTTGTGCTCTCCACTTTGAGGCACTGCTCCTCTCACTACTGATCTAGGCCCCAGGATGCAGATACAACAATTGTTTTGTTTTGTCTTGTTTTTTGAAACAGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAATGATTCTCCTGCCTCCTCAGCCTCCCAAGTAGCTGAAACTACAGGTGTGAGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTCGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCCACCTCCCAAAGAGCTGGGATTACAGGCGTGAGCCACTGCACCCAGACAGTTTTGTCCTTTTTGTTGATTTCACTGTTTATAATGTCTCCCAAGTGTAGTGCTGAAGTGCTGTCTAGCTTTCCTAAGTGCAAGAAAGCTATGATGTGCCTTACTGAGAAAATATGTGTTAGATAAGCTTAATTAAGGCATGAGTTATAGTACTGTTGGCTGTGAATTTAATGTTAATGACTCAACAATATATATTAAATAACTGTCTTTAAACAGAAACATAAAAAACAAGGTTATGTAATAAGTGGTTGATGAAAATACTGTCACAGACTCTCAGGGACTCCCTGTATTTCCCCTAGAAGCAGTGGTTCAGTATTTGATAATTCAGTCTTCATAATCACTTTATAGAACATAACTATGAATAATGAGAATTGATTGTATATGTTTTATGTACTTTTCTGTATGTATATTATGATTCACAATGAAATAAGAAAAAATATTAAAATGTAAAAAAAAAAAGAAAAGAAAAGATAAAGTGAGAAAAATCTTTCTGATGGTTGGTGTGGAGAATGAACTGGGCCTCTCCAGTTGGTGGGAGTGGGGTTCCAGTTGGATGGTTGGTGGGAGTGGGGTTCCTGGAAGTGAGTAGGATGGAGAGAAAAGTGCAGGAAGGGGAAGTATAAACTCAGTCCTGGTGTTAATAAGGACTGAATTATCATAGACTGAATCTCATATTGGGGATAGAGTCAGAGAGGACAAGAATAGATATGGGGAGCCAAGGAGGAGAGGAGAGCAATGGGACTGATTGGGAATATGAAACCAAAGGGGCTGATTTAGATCTGGGAACACACCGTCACTAGTTGTTGAAGGAATATGAATTCGTGAATCCAAGAAAGACAAGGAAGGGAGGGCCTGGGTCTCCTATTGTGATGCCTCTTATTTTCCTCATCCTAGGGGATGCTCTCCATGGTCCTGAATTGCATAGACCGCCTAAATGTCTACACCACTGCTGCCCACTTTGCTGAGTTTGCAGGGGAGGAGGCAGCCGAGTCCTGGAAAGAGATTGTGAATCTTCTCTATGAACTCCTAGGTAGGGGTCCCAGTCCTGACTCCCCTGAGAACACCCCAGATCCCCAGTCCTATTGGATCTGACACCTCTTCCCCCCTCAGCTTCTCTAATCCGTGGCAATCGTAGCAACTGTGCCCTCTTCTCCACAAACTTGGACTGGCTGGTCAGCAAGCTGGATCGGCTGGAGGCCTCGTTTGGTAGGAGAACCCGGGGGAGTGGGACAGAGGCTTGTGGGAGGGGATGGGCATGGCCGCTTCACCTCTCATTCTGGGCACCCTGGCAGGCATCCTGGAGGTCCTGTACTGTGTCCTCATTGAGAGTCCAGAGGTTCTGAACATCATCCAGGAGAATCACATCAAGTCCATCATCTCCCTCCTGGACAAGCATGGGAGGAACCACAAGGTCGGCCCCTCACCCCTGACCTCTCATCCCCTGAACTCTGAATGCTGGCCTCTCCCCAGGGCTCCAGAACTCTGCTCACTCCCTCACTTCCCTCCTCCATCTCATCTCTCACCTGTACGCCACTCCCACTGGCTTTCATCTCCACACAGGGGTCTCAAACAATGACTCTTAAGTTGATTCTGGGCCACAGATGTGCTTGGTTAGATCTCTGAAATGTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACACTGTCGCTCAGACTGGAGTGTAGTGGCGCTATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCGGCCTCCCAAGTAGCTGGGACTACAGGCACACACCACCACGCCCAGCTAATTTTTGTATTTTTTTTTTAGTAGAGACAGGGTTTCACAATGTTGGCCAGGATGGTCTCGATCTCTTGGCTTCATGATCCGTCCACCTCAGCCTCCCAAATGCTGGAATTACAGGCGTGAACCACCAGCGCCTGGCATTTTTTTTTTTTTTTTTTTGATACAGAGTCTCGCTCTGTCACCCAGACTGGAGTGGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTGTAATTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGTCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCCACCGGTGGCGCTGAAATGTTTTTAAAATTTTCAAATATTACAGCCTCTAGGTGGACTGTATATATATACACACACTCTGTAGTTTGCCATAGCCCTACAAGTTCCTGTTGCATTATTTCTAACCACTTCACACATTTATTCAGTCGGAGCAAAAGTAATTGCAGTTTTGCTATTAAAAGGAATGACAGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGATGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAAGGAATAACAAAAACCAGAATTACTTTTGCTCCAGCCTAATACATTTTCCACTTGGCCCCTAAAGACACAAGTTTGCAACCCCTGCTGATTTAAAATTTCATCTTGATTCCTGTGTCTCTCACTGGTCGTTTCAGTCTGCCTTCTGACCTCTTACCTCACTACTCCAGTATCTCCTTCCTTACATTGCTGATACCTTATCCCAACTCATGTGACCCTCCCTCAGCCTCTTGCCAGATCTTCCTCTTTGACCCCTAACCTTTCTCTGATCCCTGACCTTCCACTTTCACCACCTCCTCTCAGTCAAAATTGCCACATCTTATCCCGATGCGCTGTCCTTTCCTCCTGGCTTCCCTCCCTCCCAGGGTTCTTCTGTAGATCCTGCCCTGGTGCCTACACACCCTTTAACCTCTGACCTTGACCTCTAGGTCCTGGACGTGCTATGCTCCCTGTGTGTGTGTAATGGTGTGGCTGTACGCTCCAACCAAGATCTTATTACTGAGAACTTGCTGCCTGGCCGTGA 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Task1_train_27086 | A variant found in Chromosome 19 affects RYR1 (ryanodine receptor 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Centronuclear myopathy | AATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCTGCTACTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTATCAAAAAAAAAACAAAGAGAGAGAAAAACCTCAAAGTTAGTGGTGAGAGGTCTGAGAGAGTTCCGGGGTTAGAGATAGGGGTCCCAAAGTCAAGACAAAGGGGGCTAGAGGTCATTGATGTCAAAGCCCTTGCTAGGGTCCCAGGATCCTAGGGTCAGAAGCCAGGGATCTCAAAACTTATTCTAAAATTTCATAGAACTGCAACATTATATCAAAGGTCAGAAACGCCGAAGCTGGGACAAGGGTCAGCAGTCAGGGATCCCATATAGTGCAGAGCCCGGAAGTGGAGGTGAGGGCCTTGTCCCATGGAGCCCTACCATGCCCGCAGGTATATGATGAGCAATGGGTACAAGCCGGCTCCGCTGGACCTGAGCCACGTGCGGCTGACGCCGGCGCAGACGACACTGGTGGACCGTCTGGCAGAAAATGGGCACAACGTGTGGGCCCGAGACCGCGTGGGCCAGGGCTGGAGCTACAGCGCAGTGCAGGACATCCCAGCGCGCCGAAACCCTCGGCTGGTGCCCTACCGCCTGCTGGATGAAGCCACCAAGCGCAGCAACCGGGACAGCCTCTGCCAGGCCGTGCGCACCCTCCTGGGCTACGGCTACAACATCGAGCCTCCTGACCAGGAGCCCAGTGAGTGCTCACCCCTGGCCCTGGCCCTGACTCCTACCCCAACTCTGACCCCAGCCCCGATCCCTGATCTCTGACCTGACTCAGCCCCCAAATGGGCTATATCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCCCCAGGCTGGAGTGCAATGGCGCGATCTCTGCTCACTGCAAGCTCCACCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACCGGCGGGTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGATTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGACTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCCAAATGGGCTATATCTATCACATCGAGCAGACTGACCAGGAGGTCAGAAAGGACTGACCCCTCCCCGAAACTCTGAGCCTTACCCCAGTTCCAACTCGGAACCTGATGGAACCACTTCCCTTTACCTGACGCCAGCCCTGCCTGGGCTATGACTGCAAACCAGAGCCGTCAGCCTAGGAACCCAATGAGTGCCAACCCCACCTTTGACTCTGATTCCTGACCTCTAGCTTTGATCCCTAATCACTAATCTCTGAACTGTAGCTACCACATGAAGGCACCCAACCAAGGGCTTAGAGAGCCTGGTCACCCCTACCCCTAACCTGACTCCTGACCTATCACTGGCTTCCAATCCCAGCCTTGACCCCAAACCCTGGCCATGGTCCCCAACCTTCAGTTTCTCAACTCTTGGCCCCAACCTGAATTTCCATCCCTTCCATAATCCTGGCTCTGACCCTCCAATCCTGGTCTCAGCCCTTCATTCTAATCAACCCTGATCTTGACCCTTAACCCCAGACCATAACTCTGACCAGTTCACTGAGCTGGCTTTTTCCTTCTGTGTCTCTGCCAGTATCCCTGTTTTCTGAGAATTCTGACTGCTACAGAGATGGGGGTCTCTCTCAACAGGTCCCTGCCTCTCTCTGACTTTTCTGAGGTTCCCCAATTCTCCTCTAACTCCAAGAAATTGACCCTCTTCCAACAGTTCCCCAAAGCCCTTACTGTCCCCCAAAGCCTGTCTTCTACCAACTTCTCGATGTCTTGGGATCCACATCTTCCCTAGCCTCTCTGACTCTGCCTGGCCTCATTTATAGGTCAGGTGGAGAACCAGTCTCGTTGTGACCGGGTGCGCATCTTCCGGGCAGAGAAATCCTATACAGTGCAGAGCGGCCGCTGGTACTTCGAGTTTGAAGCAGTCACCACAGGCGAGATGCGCGTGGGCTGGGCGAGGCCCGAGCTGAGGCCTGATGTAGAGCTGGGAGCTGACGAGCTGGCCTATGTCTTCAATGGGCACCGCGTGGGTACCTCCCTGGGCACCATTCTGCCAGGTCCTGTGGTCTCTCCCACAGCTTGTCTACTCTGGCCCTGCCTCTGTCTGTGCCTCACTCTGTCCCCACTTCATGCATCTACTGTACCACTCATCCACCCATCTATCCATCCATTCAACCAATGATTCATCCATCCATCCATCCATCGATCTATCAGACATCCATCTATCCAACCAACAATTCATCCATCCATCCATCCATCCATCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCAGCTAACCAACCATCCATTCATCCAGCCAACATAGGGAGACCCCATCTCTACAAAAAATAAAAAAATTAGCTAGGCAAGGTAGCATGCACATATAGTCCCATCATCCATCCATCCATCCATCCATCCATCCATCATCTATCCATCTGACCAGCCAACCATGCATCCATCCATGCATTCAACCATCCATCCATCATCCATTCATCCCTCATCCATCCAACCAACCATCCATCCATCCATTCTTCCAGCCAACTGTCCATCCATCCATCCAATAACCATCTGCCCATCCAACAACCATTTATACAACCATCCTTCCCTTCTTCCCTCTATCTGTCATCCATTTATTTATGCTTGCCCCTACTTACACTTTGTTCTTTCTCTGTATCAACCCAGGTAAACTCTCAACTTTCCAATCATTCTTCTGTCCAGCCATGTACCCAATTTCTCATCCATCTATCTGTCTCATTAGCCACTCATCTATTTTGTGCATGTATATAAGCATATATGGATCTGTATGGGGACACTGATAGGTTCATTTTTCCTTTCCATCCCTCTACTTACTGCTGCTTCCAGCCCCCCACTACCACTTTGGTGGTCTGCATAATGCTAGCCATGGCAACAGCAGAGAACCCAGGCAGAAGGGATGAGACACAGAGATTAGTGGGGAGAAAAATTCCTGTGATCATGGATGCAAATGTGAGGAAAGATGGAGACACTGTGGGGTGACCCCTCTTCCATACCACCTGCCCTGAACCTGACACTTCGAATGTCTGTCTTCATATATCTCTCCCTCCCTGCTTCCTTATCTCTCCATTTCTCTGTGTGTCTCCCCACACCATGTCTTCTCTGGCTGTCCTCACAGGGCCAGCGCTGGCACTTGGGCAGTGAACCATTTGGGCGCCCCTGGCAGCCGGGCGATGTCGTTGGCTGTATGATCGACCTCACAGAGAACACCATTATCTTCACCCTCAATGGCGAGGTCCTCATGTCTGACTCAGGCTCCGAAACAGCCTTCCGGGAGATTGAGATTGGGGACGGTGAGGGCTGAGACCCCTTCACATGCCCTTTCTTGTTTTCCTCTGTCTCTCCCAACCCTGCACTGCCCTTCTGCCTCCAACTCTCCCATCCCTACCTCCTCCCCTCGGCTCCCTCTGCCCTGCCCACCTGCCCTCACCCCTGCCCATCCATCCCCTCCCACCAGGCTTCCTGCCCGTCTGCAGCTTGGGACCTGGCCAGGTGGGTCATCTGAACCTGGGCCAGGACGTGAGCTCTCTGAGGTTCTTTGCCATCTGTGGCCTCCAGGAAGGCTTCGAGCCATTTGCCATCAACATGCAGCGCCCAGTCACCACCTGGTTCAGCAAAGGCCTGCCCCAGTTTGAGCCAGTGCCCCTTGAACACCCTCACTATGAGGTAAGGACTGAGCCCCTCAATGCCTTCTCATCTGCCTCCAAAGCTCCTTCCTTCCACAGTGCTCTTCTTTGAGTTTCTCTTTTCCCTCCATGTTAGGACACAAACCACATGGAAGCAAGTGTCAGAGTGATGGGCTCACGGGCTGTATGACTCCGGGTGTAACTTTGGCAAACCACAGCTTCCTGAGG 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AATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCTGCTACTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTATCAAAAAAAAAACAAAGAGAGAGAAAAACCTCAAAGTTAGTGGTGAGAGGTCTGAGAGAGTTCCGGGGTTAGAGATAGGGGTCCCAAAGTCAAGACAAAGGGGGCTAGAGGTCATTGATGTCAAAGCCCTTGCTAGGGTCCCAGGATCCTAGGGTCAGAAGCCAGGGATCTCAAAACTTATTCTAAAATTTCATAGAACTGCAACATTATATCAAAGGTCAGAAACGCCGAAGCTGGGACAAGGGTCAGCAGTCAGGGATCCCATATAGTGCAGAGCCCGGAAGTGGAGGTGAGGGCCTTGTCCCATGGAGCCCTACCATGCCCGCAGGTATATGATGAGCAATGGGTACAAGCCGGCTCCGCTGGACCTGAGCCACGTGCGGCTGACGCCGGCGCAGACGACACTGGTGGACCGTCTGGCAGAAAATGGGCACAACGTGTGGGCCCGAGACCGCGTGGGCCAGGGCTGGAGCTACAGCGCAGTGCAGGACATCCCAGCGCGCCGAAACCCTCGGCTGGTGCCCTACCGCCTGCTGGATGAAGCCACCAAGCGCAGCAACCGGGACAGCCTCTGCCAGGCCGTGCGCACCCTCCTGGGCTACGGCTACAACATCGAGCCTCCTGACCAGGAGCCCAGTGAGTGCTCACCCCTGGCCCTGGCCCTGACTCCTACCCCAACTCTGACCCCAGCCCCGATCCCTGATCTCTGACCTGACTCAGCCCCCAAATGGGCTATATCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCCCCAGGCTGGAGTGCAATGGCGCGATCTCTGCTCACTGCAAGCTCCACCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACCGGCGGGTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGATTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGACTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCCAAATGGGCTATATCTATCACATCGAGCAGACTGACCAGGAGGTCAGAAAGGACTGACCCCTCCCCGAAACTCTGAGCCTTACCCCAGTTCCAACTCGGAACCTGATGGAACCACTTCCCTTTACCTGACGCCAGCCCTGCCTGGGCTATGACTGCAAACCAGAGCCGTCAGCCTAGGAACCCAATGAGTGCCAACCCCACCTTTGACTCTGATTCCTGACCTCTAGCTTTGATCCCTAATCACTAATCTCTGAACTGTAGCTACCACATGAAGGCACCCAACCAAGGGCTTAGAGAGCCTGGTCACCCCTACCCCTAACCTGACTCCTGACCTATCACTGGCTTCCAATCCCAGCCTTGACCCCAAACCCTGGCCATGGTCCCCAACCTTCAGTTTCTCAACTCTTGGCCCCAACCTGAATTTCCATCCCTTCCATAATCCTGGCTCTGACCCTCCAATCCTGGTCTCAGCCCTTCATTCTAATCAACCCTGATCTTGACCCTTAACCCCAGACCATAACTCTGACCAGTTCACTGAGCTGGCTTTTTCCTTCTGTGTCTCTGCCAGTATCCCTGTTTTCTGAGAATTCTGACTGCTACAGAGATGGGGGTCTCTCTCAACAGGTCCCTGCCTCTCTCTGACTTTTCTGAGGTTCCCCAATTCTCCTCTAACTCCAAGAAATTGACCCTCTTCCAACAGTTCCCCAAAGCCCTTACTGTCCCCCAAAGCCTGTCTTCTACCAACTTCTCGATGTCTTGGGATCCACATCTTCCCTAGCCTCTCTGACTCTGCCTGGCCTCATTTATAGGTCAGGTGGAGAACCAGTCTCGTTGTGACCGGGTGCGCATCTTCTGGGCAGAGAAATCCTATACAGTGCAGAGCGGCCGCTGGTACTTCGAGTTTGAAGCAGTCACCACAGGCGAGATGCGCGTGGGCTGGGCGAGGCCCGAGCTGAGGCCTGATGTAGAGCTGGGAGCTGACGAGCTGGCCTATGTCTTCAATGGGCACCGCGTGGGTACCTCCCTGGGCACCATTCTGCCAGGTCCTGTGGTCTCTCCCACAGCTTGTCTACTCTGGCCCTGCCTCTGTCTGTGCCTCACTCTGTCCCCACTTCATGCATCTACTGTACCACTCATCCACCCATCTATCCATCCATTCAACCAATGATTCATCCATCCATCCATCCATCGATCTATCAGACATCCATCTATCCAACCAACAATTCATCCATCCATCCATCCATCCATCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCAGCTAACCAACCATCCATTCATCCAGCCAACATAGGGAGACCCCATCTCTACAAAAAATAAAAAAATTAGCTAGGCAAGGTAGCATGCACATATAGTCCCATCATCCATCCATCCATCCATCCATCCATCCATCATCTATCCATCTGACCAGCCAACCATGCATCCATCCATGCATTCAACCATCCATCCATCATCCATTCATCCCTCATCCATCCAACCAACCATCCATCCATCCATTCTTCCAGCCAACTGTCCATCCATCCATCCAATAACCATCTGCCCATCCAACAACCATTTATACAACCATCCTTCCCTTCTTCCCTCTATCTGTCATCCATTTATTTATGCTTGCCCCTACTTACACTTTGTTCTTTCTCTGTATCAACCCAGGTAAACTCTCAACTTTCCAATCATTCTTCTGTCCAGCCATGTACCCAATTTCTCATCCATCTATCTGTCTCATTAGCCACTCATCTATTTTGTGCATGTATATAAGCATATATGGATCTGTATGGGGACACTGATAGGTTCATTTTTCCTTTCCATCCCTCTACTTACTGCTGCTTCCAGCCCCCCACTACCACTTTGGTGGTCTGCATAATGCTAGCCATGGCAACAGCAGAGAACCCAGGCAGAAGGGATGAGACACAGAGATTAGTGGGGAGAAAAATTCCTGTGATCATGGATGCAAATGTGAGGAAAGATGGAGACACTGTGGGGTGACCCCTCTTCCATACCACCTGCCCTGAACCTGACACTTCGAATGTCTGTCTTCATATATCTCTCCCTCCCTGCTTCCTTATCTCTCCATTTCTCTGTGTGTCTCCCCACACCATGTCTTCTCTGGCTGTCCTCACAGGGCCAGCGCTGGCACTTGGGCAGTGAACCATTTGGGCGCCCCTGGCAGCCGGGCGATGTCGTTGGCTGTATGATCGACCTCACAGAGAACACCATTATCTTCACCCTCAATGGCGAGGTCCTCATGTCTGACTCAGGCTCCGAAACAGCCTTCCGGGAGATTGAGATTGGGGACGGTGAGGGCTGAGACCCCTTCACATGCCCTTTCTTGTTTTCCTCTGTCTCTCCCAACCCTGCACTGCCCTTCTGCCTCCAACTCTCCCATCCCTACCTCCTCCCCTCGGCTCCCTCTGCCCTGCCCACCTGCCCTCACCCCTGCCCATCCATCCCCTCCCACCAGGCTTCCTGCCCGTCTGCAGCTTGGGACCTGGCCAGGTGGGTCATCTGAACCTGGGCCAGGACGTGAGCTCTCTGAGGTTCTTTGCCATCTGTGGCCTCCAGGAAGGCTTCGAGCCATTTGCCATCAACATGCAGCGCCCAGTCACCACCTGGTTCAGCAAAGGCCTGCCCCAGTTTGAGCCAGTGCCCCTTGAACACCCTCACTATGAGGTAAGGACTGAGCCCCTCAATGCCTTCTCATCTGCCTCCAAAGCTCCTTCCTTCCACAGTGCTCTTCTTTGAGTTTCTCTTTTCCCTCCATGTTAGGACACAAACCACATGGAAGCAAGTGTCAGAGTGATGGGCTCACGGGCTGTATGACTCCGGGTGTAACTTTGGCAAACCACAGCTTCCTGAGG 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Task1_train_27087 | This gene mutation involves RYR1 (ryanodine receptor 1) on Chromosome 19. Is it associated with any clinical condition, or is it benign? | Pathogenic; RYR1-related disorder | AATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCTGCTACTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTATCAAAAAAAAAACAAAGAGAGAGAAAAACCTCAAAGTTAGTGGTGAGAGGTCTGAGAGAGTTCCGGGGTTAGAGATAGGGGTCCCAAAGTCAAGACAAAGGGGGCTAGAGGTCATTGATGTCAAAGCCCTTGCTAGGGTCCCAGGATCCTAGGGTCAGAAGCCAGGGATCTCAAAACTTATTCTAAAATTTCATAGAACTGCAACATTATATCAAAGGTCAGAAACGCCGAAGCTGGGACAAGGGTCAGCAGTCAGGGATCCCATATAGTGCAGAGCCCGGAAGTGGAGGTGAGGGCCTTGTCCCATGGAGCCCTACCATGCCCGCAGGTATATGATGAGCAATGGGTACAAGCCGGCTCCGCTGGACCTGAGCCACGTGCGGCTGACGCCGGCGCAGACGACACTGGTGGACCGTCTGGCAGAAAATGGGCACAACGTGTGGGCCCGAGACCGCGTGGGCCAGGGCTGGAGCTACAGCGCAGTGCAGGACATCCCAGCGCGCCGAAACCCTCGGCTGGTGCCCTACCGCCTGCTGGATGAAGCCACCAAGCGCAGCAACCGGGACAGCCTCTGCCAGGCCGTGCGCACCCTCCTGGGCTACGGCTACAACATCGAGCCTCCTGACCAGGAGCCCAGTGAGTGCTCACCCCTGGCCCTGGCCCTGACTCCTACCCCAACTCTGACCCCAGCCCCGATCCCTGATCTCTGACCTGACTCAGCCCCCAAATGGGCTATATCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCCCCAGGCTGGAGTGCAATGGCGCGATCTCTGCTCACTGCAAGCTCCACCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACCGGCGGGTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGATTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGACTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCCAAATGGGCTATATCTATCACATCGAGCAGACTGACCAGGAGGTCAGAAAGGACTGACCCCTCCCCGAAACTCTGAGCCTTACCCCAGTTCCAACTCGGAACCTGATGGAACCACTTCCCTTTACCTGACGCCAGCCCTGCCTGGGCTATGACTGCAAACCAGAGCCGTCAGCCTAGGAACCCAATGAGTGCCAACCCCACCTTTGACTCTGATTCCTGACCTCTAGCTTTGATCCCTAATCACTAATCTCTGAACTGTAGCTACCACATGAAGGCACCCAACCAAGGGCTTAGAGAGCCTGGTCACCCCTACCCCTAACCTGACTCCTGACCTATCACTGGCTTCCAATCCCAGCCTTGACCCCAAACCCTGGCCATGGTCCCCAACCTTCAGTTTCTCAACTCTTGGCCCCAACCTGAATTTCCATCCCTTCCATAATCCTGGCTCTGACCCTCCAATCCTGGTCTCAGCCCTTCATTCTAATCAACCCTGATCTTGACCCTTAACCCCAGACCATAACTCTGACCAGTTCACTGAGCTGGCTTTTTCCTTCTGTGTCTCTGCCAGTATCCCTGTTTTCTGAGAATTCTGACTGCTACAGAGATGGGGGTCTCTCTCAACAGGTCCCTGCCTCTCTCTGACTTTTCTGAGGTTCCCCAATTCTCCTCTAACTCCAAGAAATTGACCCTCTTCCAACAGTTCCCCAAAGCCCTTACTGTCCCCCAAAGCCTGTCTTCTACCAACTTCTCGATGTCTTGGGATCCACATCTTCCCTAGCCTCTCTGACTCTGCCTGGCCTCATTTATAGGTCAGGTGGAGAACCAGTCTCGTTGTGACCGGGTGCGCATCTTCCGGGCAGAGAAATCCTATACAGTGCAGAGCGGCCGCTGGTACTTCGAGTTTGAAGCAGTCACCACAGGCGAGATGCGCGTGGGCTGGGCGAGGCCCGAGCTGAGGCCTGATGTAGAGCTGGGAGCTGACGAGCTGGCCTATGTCTTCAATGGGCACCGCGTGGGTACCTCCCTGGGCACCATTCTGCCAGGTCCTGTGGTCTCTCCCACAGCTTGTCTACTCTGGCCCTGCCTCTGTCTGTGCCTCACTCTGTCCCCACTTCATGCATCTACTGTACCACTCATCCACCCATCTATCCATCCATTCAACCAATGATTCATCCATCCATCCATCCATCGATCTATCAGACATCCATCTATCCAACCAACAATTCATCCATCCATCCATCCATCCATCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCAGCTAACCAACCATCCATTCATCCAGCCAACATAGGGAGACCCCATCTCTACAAAAAATAAAAAAATTAGCTAGGCAAGGTAGCATGCACATATAGTCCCATCATCCATCCATCCATCCATCCATCCATCCATCATCTATCCATCTGACCAGCCAACCATGCATCCATCCATGCATTCAACCATCCATCCATCATCCATTCATCCCTCATCCATCCAACCAACCATCCATCCATCCATTCTTCCAGCCAACTGTCCATCCATCCATCCAATAACCATCTGCCCATCCAACAACCATTTATACAACCATCCTTCCCTTCTTCCCTCTATCTGTCATCCATTTATTTATGCTTGCCCCTACTTACACTTTGTTCTTTCTCTGTATCAACCCAGGTAAACTCTCAACTTTCCAATCATTCTTCTGTCCAGCCATGTACCCAATTTCTCATCCATCTATCTGTCTCATTAGCCACTCATCTATTTTGTGCATGTATATAAGCATATATGGATCTGTATGGGGACACTGATAGGTTCATTTTTCCTTTCCATCCCTCTACTTACTGCTGCTTCCAGCCCCCCACTACCACTTTGGTGGTCTGCATAATGCTAGCCATGGCAACAGCAGAGAACCCAGGCAGAAGGGATGAGACACAGAGATTAGTGGGGAGAAAAATTCCTGTGATCATGGATGCAAATGTGAGGAAAGATGGAGACACTGTGGGGTGACCCCTCTTCCATACCACCTGCCCTGAACCTGACACTTCGAATGTCTGTCTTCATATATCTCTCCCTCCCTGCTTCCTTATCTCTCCATTTCTCTGTGTGTCTCCCCACACCATGTCTTCTCTGGCTGTCCTCACAGGGCCAGCGCTGGCACTTGGGCAGTGAACCATTTGGGCGCCCCTGGCAGCCGGGCGATGTCGTTGGCTGTATGATCGACCTCACAGAGAACACCATTATCTTCACCCTCAATGGCGAGGTCCTCATGTCTGACTCAGGCTCCGAAACAGCCTTCCGGGAGATTGAGATTGGGGACGGTGAGGGCTGAGACCCCTTCACATGCCCTTTCTTGTTTTCCTCTGTCTCTCCCAACCCTGCACTGCCCTTCTGCCTCCAACTCTCCCATCCCTACCTCCTCCCCTCGGCTCCCTCTGCCCTGCCCACCTGCCCTCACCCCTGCCCATCCATCCCCTCCCACCAGGCTTCCTGCCCGTCTGCAGCTTGGGACCTGGCCAGGTGGGTCATCTGAACCTGGGCCAGGACGTGAGCTCTCTGAGGTTCTTTGCCATCTGTGGCCTCCAGGAAGGCTTCGAGCCATTTGCCATCAACATGCAGCGCCCAGTCACCACCTGGTTCAGCAAAGGCCTGCCCCAGTTTGAGCCAGTGCCCCTTGAACACCCTCACTATGAGGTAAGGACTGAGCCCCTCAATGCCTTCTCATCTGCCTCCAAAGCTCCTTCCTTCCACAGTGCTCTTCTTTGAGTTTCTCTTTTCCCTCCATGTTAGGACACAAACCACATGGAAGCAAGTGTCAGAGTGATGGGCTCACGGGCTGTATGACTCCGGGTGTAACTTTGGCAAACCACAGCTTCCTGAGG 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AATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCTGCTACTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTATCAAAAAAAAAACAAAGAGAGAGAAAAACCTCAAAGTTAGTGGTGAGAGGTCTGAGAGAGTTCCGGGGTTAGAGATAGGGGTCCCAAAGTCAAGACAAAGGGGGCTAGAGGTCATTGATGTCAAAGCCCTTGCTAGGGTCCCAGGATCCTAGGGTCAGAAGCCAGGGATCTCAAAACTTATTCTAAAATTTCATAGAACTGCAACATTATATCAAAGGTCAGAAACGCCGAAGCTGGGACAAGGGTCAGCAGTCAGGGATCCCATATAGTGCAGAGCCCGGAAGTGGAGGTGAGGGCCTTGTCCCATGGAGCCCTACCATGCCCGCAGGTATATGATGAGCAATGGGTACAAGCCGGCTCCGCTGGACCTGAGCCACGTGCGGCTGACGCCGGCGCAGACGACACTGGTGGACCGTCTGGCAGAAAATGGGCACAACGTGTGGGCCCGAGACCGCGTGGGCCAGGGCTGGAGCTACAGCGCAGTGCAGGACATCCCAGCGCGCCGAAACCCTCGGCTGGTGCCCTACCGCCTGCTGGATGAAGCCACCAAGCGCAGCAACCGGGACAGCCTCTGCCAGGCCGTGCGCACCCTCCTGGGCTACGGCTACAACATCGAGCCTCCTGACCAGGAGCCCAGTGAGTGCTCACCCCTGGCCCTGGCCCTGACTCCTACCCCAACTCTGACCCCAGCCCCGATCCCTGATCTCTGACCTGACTCAGCCCCCAAATGGGCTATATCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCCCCAGGCTGGAGTGCAATGGCGCGATCTCTGCTCACTGCAAGCTCCACCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACCGGCGGGTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGATTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGACTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCCAAATGGGCTATATCTATCACATCGAGCAGACTGACCAGGAGGTCAGAAAGGACTGACCCCTCCCCGAAACTCTGAGCCTTACCCCAGTTCCAACTCGGAACCTGATGGAACCACTTCCCTTTACCTGACGCCAGCCCTGCCTGGGCTATGACTGCAAACCAGAGCCGTCAGCCTAGGAACCCAATGAGTGCCAACCCCACCTTTGACTCTGATTCCTGACCTCTAGCTTTGATCCCTAATCACTAATCTCTGAACTGTAGCTACCACATGAAGGCACCCAACCAAGGGCTTAGAGAGCCTGGTCACCCCTACCCCTAACCTGACTCCTGACCTATCACTGGCTTCCAATCCCAGCCTTGACCCCAAACCCTGGCCATGGTCCCCAACCTTCAGTTTCTCAACTCTTGGCCCCAACCTGAATTTCCATCCCTTCCATAATCCTGGCTCTGACCCTCCAATCCTGGTCTCAGCCCTTCATTCTAATCAACCCTGATCTTGACCCTTAACCCCAGACCATAACTCTGACCAGTTCACTGAGCTGGCTTTTTCCTTCTGTGTCTCTGCCAGTATCCCTGTTTTCTGAGAATTCTGACTGCTACAGAGATGGGGGTCTCTCTCAACAGGTCCCTGCCTCTCTCTGACTTTTCTGAGGTTCCCCAATTCTCCTCTAACTCCAAGAAATTGACCCTCTTCCAACAGTTCCCCAAAGCCCTTACTGTCCCCCAAAGCCTGTCTTCTACCAACTTCTCGATGTCTTGGGATCCACATCTTCCCTAGCCTCTCTGACTCTGCCTGGCCTCATTTATAGGTCAGGTGGAGAACCAGTCTCGTTGTGACCGGGTGCGCATCTTCTGGGCAGAGAAATCCTATACAGTGCAGAGCGGCCGCTGGTACTTCGAGTTTGAAGCAGTCACCACAGGCGAGATGCGCGTGGGCTGGGCGAGGCCCGAGCTGAGGCCTGATGTAGAGCTGGGAGCTGACGAGCTGGCCTATGTCTTCAATGGGCACCGCGTGGGTACCTCCCTGGGCACCATTCTGCCAGGTCCTGTGGTCTCTCCCACAGCTTGTCTACTCTGGCCCTGCCTCTGTCTGTGCCTCACTCTGTCCCCACTTCATGCATCTACTGTACCACTCATCCACCCATCTATCCATCCATTCAACCAATGATTCATCCATCCATCCATCCATCGATCTATCAGACATCCATCTATCCAACCAACAATTCATCCATCCATCCATCCATCCATCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCAGCTAACCAACCATCCATTCATCCAGCCAACATAGGGAGACCCCATCTCTACAAAAAATAAAAAAATTAGCTAGGCAAGGTAGCATGCACATATAGTCCCATCATCCATCCATCCATCCATCCATCCATCCATCATCTATCCATCTGACCAGCCAACCATGCATCCATCCATGCATTCAACCATCCATCCATCATCCATTCATCCCTCATCCATCCAACCAACCATCCATCCATCCATTCTTCCAGCCAACTGTCCATCCATCCATCCAATAACCATCTGCCCATCCAACAACCATTTATACAACCATCCTTCCCTTCTTCCCTCTATCTGTCATCCATTTATTTATGCTTGCCCCTACTTACACTTTGTTCTTTCTCTGTATCAACCCAGGTAAACTCTCAACTTTCCAATCATTCTTCTGTCCAGCCATGTACCCAATTTCTCATCCATCTATCTGTCTCATTAGCCACTCATCTATTTTGTGCATGTATATAAGCATATATGGATCTGTATGGGGACACTGATAGGTTCATTTTTCCTTTCCATCCCTCTACTTACTGCTGCTTCCAGCCCCCCACTACCACTTTGGTGGTCTGCATAATGCTAGCCATGGCAACAGCAGAGAACCCAGGCAGAAGGGATGAGACACAGAGATTAGTGGGGAGAAAAATTCCTGTGATCATGGATGCAAATGTGAGGAAAGATGGAGACACTGTGGGGTGACCCCTCTTCCATACCACCTGCCCTGAACCTGACACTTCGAATGTCTGTCTTCATATATCTCTCCCTCCCTGCTTCCTTATCTCTCCATTTCTCTGTGTGTCTCCCCACACCATGTCTTCTCTGGCTGTCCTCACAGGGCCAGCGCTGGCACTTGGGCAGTGAACCATTTGGGCGCCCCTGGCAGCCGGGCGATGTCGTTGGCTGTATGATCGACCTCACAGAGAACACCATTATCTTCACCCTCAATGGCGAGGTCCTCATGTCTGACTCAGGCTCCGAAACAGCCTTCCGGGAGATTGAGATTGGGGACGGTGAGGGCTGAGACCCCTTCACATGCCCTTTCTTGTTTTCCTCTGTCTCTCCCAACCCTGCACTGCCCTTCTGCCTCCAACTCTCCCATCCCTACCTCCTCCCCTCGGCTCCCTCTGCCCTGCCCACCTGCCCTCACCCCTGCCCATCCATCCCCTCCCACCAGGCTTCCTGCCCGTCTGCAGCTTGGGACCTGGCCAGGTGGGTCATCTGAACCTGGGCCAGGACGTGAGCTCTCTGAGGTTCTTTGCCATCTGTGGCCTCCAGGAAGGCTTCGAGCCATTTGCCATCAACATGCAGCGCCCAGTCACCACCTGGTTCAGCAAAGGCCTGCCCCAGTTTGAGCCAGTGCCCCTTGAACACCCTCACTATGAGGTAAGGACTGAGCCCCTCAATGCCTTCTCATCTGCCTCCAAAGCTCCTTCCTTCCACAGTGCTCTTCTTTGAGTTTCTCTTTTCCCTCCATGTTAGGACACAAACCACATGGAAGCAAGTGTCAGAGTGATGGGCTCACGGGCTGTATGACTCCGGGTGTAACTTTGGCAAACCACAGCTTCCTGAGG 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Task1_train_27088 | With a mutation on Chromosome 19 in gene RYR1 (ryanodine receptor 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Central core myopathy | CCTCTAGCTTTGATCCCTAATCACTAATCTCTGAACTGTAGCTACCACATGAAGGCACCCAACCAAGGGCTTAGAGAGCCTGGTCACCCCTACCCCTAACCTGACTCCTGACCTATCACTGGCTTCCAATCCCAGCCTTGACCCCAAACCCTGGCCATGGTCCCCAACCTTCAGTTTCTCAACTCTTGGCCCCAACCTGAATTTCCATCCCTTCCATAATCCTGGCTCTGACCCTCCAATCCTGGTCTCAGCCCTTCATTCTAATCAACCCTGATCTTGACCCTTAACCCCAGACCATAACTCTGACCAGTTCACTGAGCTGGCTTTTTCCTTCTGTGTCTCTGCCAGTATCCCTGTTTTCTGAGAATTCTGACTGCTACAGAGATGGGGGTCTCTCTCAACAGGTCCCTGCCTCTCTCTGACTTTTCTGAGGTTCCCCAATTCTCCTCTAACTCCAAGAAATTGACCCTCTTCCAACAGTTCCCCAAAGCCCTTACTGTCCCCCAAAGCCTGTCTTCTACCAACTTCTCGATGTCTTGGGATCCACATCTTCCCTAGCCTCTCTGACTCTGCCTGGCCTCATTTATAGGTCAGGTGGAGAACCAGTCTCGTTGTGACCGGGTGCGCATCTTCCGGGCAGAGAAATCCTATACAGTGCAGAGCGGCCGCTGGTACTTCGAGTTTGAAGCAGTCACCACAGGCGAGATGCGCGTGGGCTGGGCGAGGCCCGAGCTGAGGCCTGATGTAGAGCTGGGAGCTGACGAGCTGGCCTATGTCTTCAATGGGCACCGCGTGGGTACCTCCCTGGGCACCATTCTGCCAGGTCCTGTGGTCTCTCCCACAGCTTGTCTACTCTGGCCCTGCCTCTGTCTGTGCCTCACTCTGTCCCCACTTCATGCATCTACTGTACCACTCATCCACCCATCTATCCATCCATTCAACCAATGATTCATCCATCCATCCATCCATCGATCTATCAGACATCCATCTATCCAACCAACAATTCATCCATCCATCCATCCATCCATCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCAGCTAACCAACCATCCATTCATCCAGCCAACATAGGGAGACCCCATCTCTACAAAAAATAAAAAAATTAGCTAGGCAAGGTAGCATGCACATATAGTCCCATCATCCATCCATCCATCCATCCATCCATCCATCATCTATCCATCTGACCAGCCAACCATGCATCCATCCATGCATTCAACCATCCATCCATCATCCATTCATCCCTCATCCATCCAACCAACCATCCATCCATCCATTCTTCCAGCCAACTGTCCATCCATCCATCCAATAACCATCTGCCCATCCAACAACCATTTATACAACCATCCTTCCCTTCTTCCCTCTATCTGTCATCCATTTATTTATGCTTGCCCCTACTTACACTTTGTTCTTTCTCTGTATCAACCCAGGTAAACTCTCAACTTTCCAATCATTCTTCTGTCCAGCCATGTACCCAATTTCTCATCCATCTATCTGTCTCATTAGCCACTCATCTATTTTGTGCATGTATATAAGCATATATGGATCTGTATGGGGACACTGATAGGTTCATTTTTCCTTTCCATCCCTCTACTTACTGCTGCTTCCAGCCCCCCACTACCACTTTGGTGGTCTGCATAATGCTAGCCATGGCAACAGCAGAGAACCCAGGCAGAAGGGATGAGACACAGAGATTAGTGGGGAGAAAAATTCCTGTGATCATGGATGCAAATGTGAGGAAAGATGGAGACACTGTGGGGTGACCCCTCTTCCATACCACCTGCCCTGAACCTGACACTTCGAATGTCTGTCTTCATATATCTCTCCCTCCCTGCTTCCTTATCTCTCCATTTCTCTGTGTGTCTCCCCACACCATGTCTTCTCTGGCTGTCCTCACAGGGCCAGCGCTGGCACTTGGGCAGTGAACCATTTGGGCGCCCCTGGCAGCCGGGCGATGTCGTTGGCTGTATGATCGACCTCACAGAGAACACCATTATCTTCACCCTCAATGGCGAGGTCCTCATGTCTGACTCAGGCTCCGAAACAGCCTTCCGGGAGATTGAGATTGGGGACGGTGAGGGCTGAGACCCCTTCACATGCCCTTTCTTGTTTTCCTCTGTCTCTCCCAACCCTGCACTGCCCTTCTGCCTCCAACTCTCCCATCCCTACCTCCTCCCCTCGGCTCCCTCTGCCCTGCCCACCTGCCCTCACCCCTGCCCATCCATCCCCTCCCACCAGGCTTCCTGCCCGTCTGCAGCTTGGGACCTGGCCAGGTGGGTCATCTGAACCTGGGCCAGGACGTGAGCTCTCTGAGGTTCTTTGCCATCTGTGGCCTCCAGGAAGGCTTCGAGCCATTTGCCATCAACATGCAGCGCCCAGTCACCACCTGGTTCAGCAAAGGCCTGCCCCAGTTTGAGCCAGTGCCCCTTGAACACCCTCACTATGAGGTAAGGACTGAGCCCCTCAATGCCTTCTCATCTGCCTCCAAAGCTCCTTCCTTCCACAGTGCTCTTCTTTGAGTTTCTCTTTTCCCTCCATGTTAGGACACAAACCACATGGAAGCAAGTGTCAGAGTGATGGGCTCACGGGCTGTATGACTCCGGGTGTAACTTTGGCAAACCACAGCTTCCTGAGGTCCAGGTGCCTCACCTATAAAATAAGGGAAACCCTGCCTGGGCAACAAGCAAAACTCCATCTCTAAAAATAAAAAAAAATTAAGTCTAGGCATGGTAGCTCATGCCTGTTATCCCAGCACTTAGGGAGGCTGAGGCAGGAGGATCCCTTGAGCCCAGGAGTTCAAGACCAGCCTTGGCAACATAGGGAGACCCCGTCTCTACAAAAAATAAAAAAAAAAATTAGCAAGGTGTGTAGTATGCACATATAGCCCTAGCTACTCAGGAGGTTGAGACTGGAGGATTGCTTGATTCCAAGAGGTCAAGACTGCAGTGAATTAGCCAGATGTGGTGGCACATGCCTGTAATTCCAGCTACTTAGGGGGCTGAGGCAGGAGACTCGCTTGAACACGGGAGATGGAGGTTGCAGTGAGCCAAGATTGCGCCCTTGCACTCCAGCCTGGGCAAGGAGAGCGAAACTCCATCTCAAAAAAAAAAAAAAGTTAAAGGCTGCAGTGAGCTGTGTTCACACCACTGCACTCTAGCCTAAGAGACAGAGCAAGACCCTATCTCAAAAAAAAATTTTTTTTTAATAAATAATTTTTAAAACTTAGCTGGGTGCTGTGGCACATGCCTGGTGTCCCAGCCACTCGGCAAACTGAGGCAGGAGGATCCTCTGAGCTCAGGAGGTCGAGGCTGCAGTAAGCTGATTACACGACTGCACTCCAGCCTGAGTGACAGAGAGGACCCTGTCTCATTGAAAAAAAAAAAAAAAAAAGAGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGCCCAGAAGTTCAAGATGAGCCTGGCCAATATGGCAAAAACCCATCTCTACTAAAAATACTCCCCCAAAATTAATGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTAAGCTGAGGTTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTTACAAACAAAACAAAACAAAACAGAAGGACTCTGCAAAAGGAGTTTTAAGTATGGGAACGTCCAGTTGAGGTCTGAGTTTTGGAAAGGTCCCTATTGGCAGTGGATTGTAGGAGGTGACAGTGGAGTCAGAAGGATCCTAGAGGTGGCTGGGACGGGGCAGTACTGCAGAGTGGACGCAGAGTTCCTGACACCTGCCACTACCAGATGTCCCCAACCCAAGGCACAGCATGCTACACGGAAGTGAGAATGAATACCTGGAAATACACACAGCCATGTGGACGAATCTCAGACATAATGTCGAGTAGAAGAAGCCGGAGACAAGAGAGCACAGGCTGTGGGATTCCATTCACAGAAAGTTCAAGAACAGGCAGAG 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CCTCTAGCTTTGATCCCTAATCACTAATCTCTGAACTGTAGCTACCACATGAAGGCACCCAACCAAGGGCTTAGAGAGCCTGGTCACCCCTACCCCTAACCTGACTCCTGACCTATCACTGGCTTCCAATCCCAGCCTTGACCCCAAACCCTGGCCATGGTCCCCAACCTTCAGTTTCTCAACTCTTGGCCCCAACCTGAATTTCCATCCCTTCCATAATCCTGGCTCTGACCCTCCAATCCTGGTCTCAGCCCTTCATTCTAATCAACCCTGATCTTGACCCTTAACCCCAGACCATAACTCTGACCAGTTCACTGAGCTGGCTTTTTCCTTCTGTGTCTCTGCCAGTATCCCTGTTTTCTGAGAATTCTGACTGCTACAGAGATGGGGGTCTCTCTCAACAGGTCCCTGCCTCTCTCTGACTTTTCTGAGGTTCCCCAATTCTCCTCTAACTCCAAGAAATTGACCCTCTTCCAACAGTTCCCCAAAGCCCTTACTGTCCCCCAAAGCCTGTCTTCTACCAACTTCTCGATGTCTTGGGATCCACATCTTCCCTAGCCTCTCTGACTCTGCCTGGCCTCATTTATAGGTCAGGTGGAGAACCAGTCTCGTTGTGACCGGGTGCGCATCTTCCGGGCAGAGAAATCCTATACAGTGCAGAGCGGCCGCTGGTACTTCGAGTTTGAAGCAGTCACCACAGGCGAGATGCGCGTGGGCTGGGCGAGGCCCGAGCTGAGGCCTGATGTAGAGCTGGGAGCTGACGAGCTGGCCTATGTCTTCAATGGGCACCGCGTGGGTACCTCCCTGGGCACCATTCTGCCAGGTCCTGTGGTCTCTCCCACAGCTTGTCTACTCTGGCCCTGCCTCTGTCTGTGCCTCACTCTGTCCCCACTTCATGCATCTACTGTACCACTCATCCACCCATCTATCCATCCATTCAACCAATGATTCATCCATCCATCCATCCATCGATCTATCAGACATCCATCTATCCAACCAACAATTCATCCATCCATCCATCCATCCATCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCAGCTAACCAACCATCCATTCATCCAGCCAACATAGGGAGACCCCATCTCTACAAAAAATAAAAAAATTAGCTAGGCAAGGTAGCATGCACATATAGTCCCATCATCCATCCATCCATCCATCCATCCATCCATCATCTATCCATCTGACCAGCCAACCATGCATCCATCCATGCATTCAACCATCCATCCATCATCCATTCATCCCTCATCCATCCAACCAACCATCCATCCATCCATTCTTCCAGCCAACTGTCCATCCATCCATCCAATAACCATCTGCCCATCCAACAACCATTTATACAACCATCCTTCCCTTCTTCCCTCTATCTGTCATCCATTTATTTATGCTTGCCCCTACTTACACTTTGTTCTTTCTCTGTATCAACCCAGGTAAACTCTCAACTTTCCAATCATTCTTCTGTCCAGCCATGTACCCAATTTCTCATCCATCTATCTGTCTCATTAGCCACTCATCTATTTTGTGCATGTATATAAGCATATATGGATCTGTATGGGGACACTGATAGGTTCATTTTTCCTTTCCATCCCTCTACTTACTGCTGCTTCCAGCCCCCCACTACCACTTTGGTGGTCTGCATAATGCTAGCCATGGCAACAGCAGAGAACCCAGGCAGAAGGGATGAGACACAGAGATTAGTGGGGAGAAAAATTCCTGTGATCATGGATGCAAATGTGAGGAAAGATGGAGACACTGTGGGGTGACCCCTCTTCCATACCACCTGCCCTGAACCTGACACTTCGAATGTCTGTCTTCATATATCTCTCCCTCCCTGCTTCCTTATCTCTCCATTTCTCTGTGTGTCTCCCCACACCATGTCTTCTCTGGCTGTCCTCACAGGGCCAGCGCTGGCACTTGGGCAGTGAACCATTTGGGCGCCCCTGGCAGCCGGGCGATGTCGTTGGCTGTATGATCGACCTCACAGAGAACACCATTATCTTCATCCTCAATGGCGAGGTCCTCATGTCTGACTCAGGCTCCGAAACAGCCTTCCGGGAGATTGAGATTGGGGACGGTGAGGGCTGAGACCCCTTCACATGCCCTTTCTTGTTTTCCTCTGTCTCTCCCAACCCTGCACTGCCCTTCTGCCTCCAACTCTCCCATCCCTACCTCCTCCCCTCGGCTCCCTCTGCCCTGCCCACCTGCCCTCACCCCTGCCCATCCATCCCCTCCCACCAGGCTTCCTGCCCGTCTGCAGCTTGGGACCTGGCCAGGTGGGTCATCTGAACCTGGGCCAGGACGTGAGCTCTCTGAGGTTCTTTGCCATCTGTGGCCTCCAGGAAGGCTTCGAGCCATTTGCCATCAACATGCAGCGCCCAGTCACCACCTGGTTCAGCAAAGGCCTGCCCCAGTTTGAGCCAGTGCCCCTTGAACACCCTCACTATGAGGTAAGGACTGAGCCCCTCAATGCCTTCTCATCTGCCTCCAAAGCTCCTTCCTTCCACAGTGCTCTTCTTTGAGTTTCTCTTTTCCCTCCATGTTAGGACACAAACCACATGGAAGCAAGTGTCAGAGTGATGGGCTCACGGGCTGTATGACTCCGGGTGTAACTTTGGCAAACCACAGCTTCCTGAGGTCCAGGTGCCTCACCTATAAAATAAGGGAAACCCTGCCTGGGCAACAAGCAAAACTCCATCTCTAAAAATAAAAAAAAATTAAGTCTAGGCATGGTAGCTCATGCCTGTTATCCCAGCACTTAGGGAGGCTGAGGCAGGAGGATCCCTTGAGCCCAGGAGTTCAAGACCAGCCTTGGCAACATAGGGAGACCCCGTCTCTACAAAAAATAAAAAAAAAAATTAGCAAGGTGTGTAGTATGCACATATAGCCCTAGCTACTCAGGAGGTTGAGACTGGAGGATTGCTTGATTCCAAGAGGTCAAGACTGCAGTGAATTAGCCAGATGTGGTGGCACATGCCTGTAATTCCAGCTACTTAGGGGGCTGAGGCAGGAGACTCGCTTGAACACGGGAGATGGAGGTTGCAGTGAGCCAAGATTGCGCCCTTGCACTCCAGCCTGGGCAAGGAGAGCGAAACTCCATCTCAAAAAAAAAAAAAAGTTAAAGGCTGCAGTGAGCTGTGTTCACACCACTGCACTCTAGCCTAAGAGACAGAGCAAGACCCTATCTCAAAAAAAAATTTTTTTTTAATAAATAATTTTTAAAACTTAGCTGGGTGCTGTGGCACATGCCTGGTGTCCCAGCCACTCGGCAAACTGAGGCAGGAGGATCCTCTGAGCTCAGGAGGTCGAGGCTGCAGTAAGCTGATTACACGACTGCACTCCAGCCTGAGTGACAGAGAGGACCCTGTCTCATTGAAAAAAAAAAAAAAAAAAGAGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGCCCAGAAGTTCAAGATGAGCCTGGCCAATATGGCAAAAACCCATCTCTACTAAAAATACTCCCCCAAAATTAATGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTAAGCTGAGGTTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTTACAAACAAAACAAAACAAAACAGAAGGACTCTGCAAAAGGAGTTTTAAGTATGGGAACGTCCAGTTGAGGTCTGAGTTTTGGAAAGGTCCCTATTGGCAGTGGATTGTAGGAGGTGACAGTGGAGTCAGAAGGATCCTAGAGGTGGCTGGGACGGGGCAGTACTGCAGAGTGGACGCAGAGTTCCTGACACCTGCCACTACCAGATGTCCCCAACCCAAGGCACAGCATGCTACACGGAAGTGAGAATGAATACCTGGAAATACACACAGCCATGTGGACGAATCTCAGACATAATGTCGAGTAGAAGAAGCCGGAGACAAGAGAGCACAGGCTGTGGGATTCCATTCACAGAAAGTTCAAGAACAGGCAGAG 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Task1_train_27089 | This is a variant in RYR1 (ryanodine receptor 1), located on Chromosome 19. Is this mutation a likely cause of disease or not? | Pathogenic; Malignant hyperthermia, susceptibility to, 1 | GTAGTAACTGGGAAAACTTCTGGAACAGGGGGCCCCTTCCACATTGTTCTGGTCCAAGGCCCCATGTGCCGACCTGCCCTGCATGGTGCTCCAAGCCTTGCATTGTCTCCTTCCCAGGGTCCCTGCAGGAGCTGGTGTCCCACATGGTGGTGCGCTGGGCCCAAGAGGACTTCGTGCAGAGCCCCGAGCTGGTGCGGGCCATGTTCAGCCTCCTGCACCGGCAGTACGACGGGCTGGGTGAGCTGCTGCGTGCCCTGCCGCGGGCGTACACCATCTCACCGTCCTCCGTGGAAGACACCATGAGCCTGCTCGAGTGCCTCGGCCAGATCCGCTCGCTGCTCATCGTGCAGATGGGCCCCCAGGAGGAGAACCTCATGATCCAGAGCATCGGGTGAGACACCGCCCTTCCCCCTTACTTTGCATATCCCCTTGGGTAATGAATACCCTCAGGATACAATAACATTCCCTTCCCCAACTTCTGGCCCATCCTCTGGGTGATCTCAGTCTCTCGATGGCTAGCTCACCTCCTGGGTAATGTCTCCTTCCCTTACCTCTCCGCCCTCAGTGGTAGCAGCTCCGCTTCTGTGTGACTCTCAGCAGGACATTCCCCACCCCCCCCTTTTTTTTTTTTTTTGTGAGACTGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCATACCAGGCTAATTTTTTATATTTAGTAGAGACAGGGTTTCACCATGTTGATCAGACTAGTCTCGAACTCCTAACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACGTGAGCCACCACACCCAGCTGAGGTTTACCCTTTTTGAGCTTCAGTTTCCTCATCTGTAAAACCGGGGAGAGCCAAGCCTACTCTGAAGGGTTGTGCTGTGGCTTCAGTGAGCTCATGCGAATAATAATAATTATGGTAGCAGTATTGAGCACTCATTGTCAAATAAATCTCATTCACACAGTAAACATTTATTAAGCACCTACTTCGTGCCAGGCATTTCTAGGTGTTTTTGAGACAGGGCCTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCCCAATCACAGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCGATCCTCCTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGACACACACCACCATACCCAGCTAATTTGTAAATTTTTTTGTAGAGGTAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGGACTCCTGGGCTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGGGCTGGAATTACAAGGCAAAAGCCACCATGCTGGGACAACATTTGACAAAGGGCAACATGGCAAAGATCTCTGCCCTAGAGGAGCCTGCCTTGGGTGCACGCCTCAGTCTCCTTATGAGGGAAACAGGGACCCTTCCTCCCACAGTGGCTGTAGGAATTTTTTTTTTTTATTTTTTGAGATGGAGTCTTGCTCTGTTGCCAAGCCTGGAGTGCGCAATGTCTGCTCACTGCAACCTCCGCATACCGGGTTCAAGCGATTCTCCCACCTCAGCCTCCTGCGTAGCTGGGATTACGGGTATGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGATCTCGATCTCCTGACCTCAAGTGATCCTCTAGCTTCGGCCTCCCAAAGTGCTGGGATTACACGCATGAGCCACCGCACCCGGCCAGCTGTAGGAATTGAGTGAGTTCAGATCTGTAAAGGCGGTGGTGCTAGGCACAGAGTGAGAGGGTCAAGAATGCCAACGCTGTCACAGTGGTGGCTATGGCCCTCTCCGGACCTGGGCCCCTGGTGACCCCGCACACTCTGCCCGTGCACAGGAACATCATGAACAACAAAGTCTTCTACCAACACCCGAACCTGATGAGGGCGCTGGGCATGCACGAGACGGTCATGGAGGTCATGGTCAACGTCCTCGGGGGCGGCGAGTCCAAGGTGAGGGCCCAGGCAGGTGCTGGGGAGCTCAGGGGAGGCAGCCACAGAGGGCAGGCCCTGACCACCCTGCCTGTCCCAGGAGATCCGCTTCCCCAAGATGGTGACAAGCTGCTGCCGCTTCCTCTGCTATTTCTGCCGAATCAGCCGGCAGAACCAGCGCTCCATGTTTGACCACCTGAGCTACCTGCTGGAGAACAGTGGCATCGGCCTGGGTGAGAACCCCCGAGCCCAGGGGCTGTCCCCCAGAACCCACTCCTGGCACCCCGTCCAGGCCTGCCCCACTTTCCACCAGCTCACTCATTCAACAAACACTCCCTCTCAACTGTGGTTCTGGCCCTGTAATGAGTAATGCTGGGGACACAATAGTGACCCCAATAGTGACAGCCCAGAGTGGTCAGAGCTTGGATGAGGGAAGTACAGACCAGAGGAGGCACCTGATCCAGGCTGGAAAAAGGGTGGTCAGGGAGGGCTTCCCAGAGGAGGCGAGACAAGCAGGAGTGAGATGTTCTCCCCACCTCTCGCCCCTGCAGGCATGCAGGGCTCCACGCCCCTGGACGTGGCTGCTGCCTCCGTCATTGACAACAATGAGCTGGCCTTGGCATTGCAGGAGCAGGACCTGGAAAAGGTGTGGAGGGCAGGGCTGGGCCCCAGGCCTAAGGGAGGAAATCGGGCCGCTACCCGGCTGCTTGGGACACCTGCTGATTCCAAACTCATTCTGGGGGGCAATTCTGGATGGTCCAGTGCCCAACCAGAAGGAGACTAATTTGCAGGGAGAGAACGGCACCCAGTTGTTCATTCATGGGATGCTTCCTGGCTGTGGGCCGGTCCGCACTCCACGCTTCCCGTCTGGGGGCAGGTCCACAGTCTACGCTTCCGGGATGGGGGCGGATCCGCACTCTAACTTCCAGGCTGGGGGCGGATCCGCAGTCTACACTTCCGGGCTGGGGGCGGATCCGCACGCTACGCTTCCGGGTTGGGGGCCGATCCACAGTCTAGGCTTCCAGCCAGGTGGCCTTGGCACATTTCTTCGCTCTCCGAGCTTCCACTTCTGTGTACAGTGGTGAAATGCGTGGGCTCCAGACTTCAGCAACTTTGCTTCTGCTCCCCTCGCTCCCTGGCTGTGTGGCCTTGGATAAGTGACTTAGACTCTCCAGACCCCTGTTGTCTCATCTGTACAATGAATGTAGTCATAGAAACGACTTCATGGAGTCATTCTGAGGATTAAATGAATTAATCCAGTAAAGTGTTTGTAAAGGGGCAGTCAGTAACGTTAGCTGCTGTTATATTATCATTCAACAAATATGTAGTGTTAGCTTACCATATGCAAAGCAGTAGCAATATGACAGTCAAAAATCCCTGTCTGGCCAGGCAAAGTGGCTTACATCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTAAGCTCAGGAGTTTAAGACCAGCCTGGACAATATAGGGACACCTTGTCTCTACAAAAAATACAAAAAGTAGGTGGGTGTAGTGGCACGTAACTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTTGATAGAGCCTGCGAGGCTGAGGCTGCAGTGAGCTATGGTCACACCACTGCACTTCACCTCAGGGACAGAGCGAGACCCCTTAAAAAAAAAAGTGGCCAGAGAAAGCCTCATTGAGAAAGTGACATTTGTGTAAAGCTCTGAAGGAAGGTGACAGGTCAGGTGGTCATCATGGGGAAGAGCATTCTAGGCAGCGGGAACAGCCAGTGCAAAGGCCCTGAGGCAGGAGCAAACCTCATAAGCTGGAGGAACAGCAGAAAGACAGCTGTGGCTGGAGCAGAGGTAGTGAGGGTGAGGGCAGGAGGTGACAGGTGGGTCATGTGGCATCTCATCGGTCACAACAAGGGCTCTGGCTTTTACCCTGAGTGAGAGGAGGCCAGGATTCTGAGCAGAGGAGGGACGTGACCTGACTCAGGTGTTCACAGGGTCCCTCTGGCTGTGTGT 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GTAGTAACTGGGAAAACTTCTGGAACAGGGGGCCCCTTCCACATTGTTCTGGTCCAAGGCCCCATGTGCCGACCTGCCCTGCATGGTGCTCCAAGCCTTGCATTGTCTCCTTCCCAGGGTCCCTGCAGGAGCTGGTGTCCCACATGGTGGTGCGCTGGGCCCAAGAGGACTTCGTGCAGAGCCCCGAGCTGGTGCGGGCCATGTTCAGCCTCCTGCACCGGCAGTACGACGGGCTGGGTGAGCTGCTGCGTGCCCTGCCGCGGGCGTACACCATCTCACCGTCCTCCGTGGAAGACACCATGAGCCTGCTCGAGTGCCTCGGCCAGATCCGCTCGCTGCTCATCGTGCAGATGGGCCCCCAGGAGGAGAACCTCATGATCCAGAGCATCGGGTGAGACACCGCCCTTCCCCCTTACTTTGCATATCCCCTTGGGTAATGAATACCCTCAGGATACAATAACATTCCCTTCCCCAACTTCTGGCCCATCCTCTGGGTGATCTCAGTCTCTCGATGGCTAGCTCACCTCCTGGGTAATGTCTCCTTCCCTTACCTCTCCGCCCTCAGTGGTAGCAGCTCCGCTTCTGTGTGACTCTCAGCAGGACATTCCCCACCCCCCCCTTTTTTTTTTTTTTTGTGAGACTGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCATACCAGGCTAATTTTTTATATTTAGTAGAGACAGGGTTTCACCATGTTGATCAGACTAGTCTCGAACTCCTAACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACGTGAGCCACCACACCCAGCTGAGGTTTACCCTTTTTGAGCTTCAGTTTCCTCATCTGTAAAACCGGGGAGAGCCAAGCCTACTCTGAAGGGTTGTGCTGTGGCTTCAGTGAGCTCATGCGAATAATAATAATTATGGTAGCAGTATTGAGCACTCATTGTCAAATAAATCTCATTCACACAGTAAACATTTATTAAGCACCTACTTCGTGCCAGGCATTTCTAGGTGTTTTTGAGACAGGGCCTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCCCAATCACAGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCGATCCTCCTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGACACACACCACCATACCCAGCTAATTTGTAAATTTTTTTGTAGAGGTAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGGACTCCTGGGCTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGGGCTGGAATTACAAGGCAAAAGCCACCATGCTGGGACAACATTTGACAAAGGGCAACATGGCAAAGATCTCTGCCCTAGAGGAGCCTGCCTTGGGTGCACGCCTCAGTCTCCTTATGAGGGAAACAGGGACCCTTCCTCCCACAGTGGCTGTAGGAATTTTTTTTTTTTATTTTTTGAGATGGAGTCTTGCTCTGTTGCCAAGCCTGGAGTGCGCAATGTCTGCTCACTGCAACCTCCGCATACCGGGTTCAAGCGATTCTCCCACCTCAGCCTCCTGCGTAGCTGGGATTACGGGTATGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGATCTCGATCTCCTGACCTCAAGTGATCCTCTAGCTTCGGCCTCCCAAAGTGCTGGGATTACACGCATGAGCCACCGCACCCGGCCAGCTGTAGGAATTGAGTGAGTTCAGATCTGTAAAGGCGGTGGTGCTAGGCACAGAGTGAGAGGGTCAAGAATGCCAACGCTGTCACAGTGGTGGCTATGGCCCTCTCCGGACCTGGGCCCCTGGTGACCCCGCACACTCTGCCCGTGCACAGGAACATCATGAACAACAAAGTCTTCTACCAACACCCGAACCTGATGAGGGCGCTGGGCATGCACGAGATGGTCATGGAGGTCATGGTCAACGTCCTCGGGGGCGGCGAGTCCAAGGTGAGGGCCCAGGCAGGTGCTGGGGAGCTCAGGGGAGGCAGCCACAGAGGGCAGGCCCTGACCACCCTGCCTGTCCCAGGAGATCCGCTTCCCCAAGATGGTGACAAGCTGCTGCCGCTTCCTCTGCTATTTCTGCCGAATCAGCCGGCAGAACCAGCGCTCCATGTTTGACCACCTGAGCTACCTGCTGGAGAACAGTGGCATCGGCCTGGGTGAGAACCCCCGAGCCCAGGGGCTGTCCCCCAGAACCCACTCCTGGCACCCCGTCCAGGCCTGCCCCACTTTCCACCAGCTCACTCATTCAACAAACACTCCCTCTCAACTGTGGTTCTGGCCCTGTAATGAGTAATGCTGGGGACACAATAGTGACCCCAATAGTGACAGCCCAGAGTGGTCAGAGCTTGGATGAGGGAAGTACAGACCAGAGGAGGCACCTGATCCAGGCTGGAAAAAGGGTGGTCAGGGAGGGCTTCCCAGAGGAGGCGAGACAAGCAGGAGTGAGATGTTCTCCCCACCTCTCGCCCCTGCAGGCATGCAGGGCTCCACGCCCCTGGACGTGGCTGCTGCCTCCGTCATTGACAACAATGAGCTGGCCTTGGCATTGCAGGAGCAGGACCTGGAAAAGGTGTGGAGGGCAGGGCTGGGCCCCAGGCCTAAGGGAGGAAATCGGGCCGCTACCCGGCTGCTTGGGACACCTGCTGATTCCAAACTCATTCTGGGGGGCAATTCTGGATGGTCCAGTGCCCAACCAGAAGGAGACTAATTTGCAGGGAGAGAACGGCACCCAGTTGTTCATTCATGGGATGCTTCCTGGCTGTGGGCCGGTCCGCACTCCACGCTTCCCGTCTGGGGGCAGGTCCACAGTCTACGCTTCCGGGATGGGGGCGGATCCGCACTCTAACTTCCAGGCTGGGGGCGGATCCGCAGTCTACACTTCCGGGCTGGGGGCGGATCCGCACGCTACGCTTCCGGGTTGGGGGCCGATCCACAGTCTAGGCTTCCAGCCAGGTGGCCTTGGCACATTTCTTCGCTCTCCGAGCTTCCACTTCTGTGTACAGTGGTGAAATGCGTGGGCTCCAGACTTCAGCAACTTTGCTTCTGCTCCCCTCGCTCCCTGGCTGTGTGGCCTTGGATAAGTGACTTAGACTCTCCAGACCCCTGTTGTCTCATCTGTACAATGAATGTAGTCATAGAAACGACTTCATGGAGTCATTCTGAGGATTAAATGAATTAATCCAGTAAAGTGTTTGTAAAGGGGCAGTCAGTAACGTTAGCTGCTGTTATATTATCATTCAACAAATATGTAGTGTTAGCTTACCATATGCAAAGCAGTAGCAATATGACAGTCAAAAATCCCTGTCTGGCCAGGCAAAGTGGCTTACATCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTAAGCTCAGGAGTTTAAGACCAGCCTGGACAATATAGGGACACCTTGTCTCTACAAAAAATACAAAAAGTAGGTGGGTGTAGTGGCACGTAACTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTTGATAGAGCCTGCGAGGCTGAGGCTGCAGTGAGCTATGGTCACACCACTGCACTTCACCTCAGGGACAGAGCGAGACCCCTTAAAAAAAAAAGTGGCCAGAGAAAGCCTCATTGAGAAAGTGACATTTGTGTAAAGCTCTGAAGGAAGGTGACAGGTCAGGTGGTCATCATGGGGAAGAGCATTCTAGGCAGCGGGAACAGCCAGTGCAAAGGCCCTGAGGCAGGAGCAAACCTCATAAGCTGGAGGAACAGCAGAAAGACAGCTGTGGCTGGAGCAGAGGTAGTGAGGGTGAGGGCAGGAGGTGACAGGTGGGTCATGTGGCATCTCATCGGTCACAACAAGGGCTCTGGCTTTTACCCTGAGTGAGAGGAGGCCAGGATTCTGAGCAGAGGAGGGACGTGACCTGACTCAGGTGTTCACAGGGTCCCTCTGGCTGTGTGT 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Task1_train_27090 | A mutation in RYR1 (ryanodine receptor 1), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; RYR1-related disorder | CAAGGGCTGCTGGTTGCCCATTTTTATGTTATTTCTTGATGATATGCTGTTTAGCATAACAAGGGGTGGATTATTCATGCCTCCCCTTTCTAAACCATGTAGGGTAACTTTCTGATATTGCCATGACATTTGTAAACTGTCGTGGCGCTGGTGGGAGTGCAGCAGTGAGGATGACCAGAGGTCACTCTCGTTGCCATCTTGGTTTTGGTGGGTTTTGGCCGGCTTCTTTACTGCAGCCTATTTTATCAGCAAGGACTTTATGACCTGTATCTTGTGCCAACCTTCTATCTTGTTCTGTGACTTAGAATGCCTTAACCATCTGGGAATGCAGCCCAGTAGGTCTCAAGCTCCTGTTCAAGATGGAGTTGCTGTAGTTTACAGGCCTCTGACAGGACCAGGGCTAATGGGCCGAGGGATCAGAGCTGAACCGGACTGAGGAGCCGCAGGGCAGGGCAGGGCAGGGCAGAGGGCTGAGCCCCAGGAGGAAGGTGGCATGGGTCTGGTCTCTGACTGAGCCCCTTCTGCCCCCAGGTTGTGTCCTACCTGGCAGGCTGTGGCCTCCAGAGCTGCCCCATGCTTGTGGCCAAAGGGTACCCAGACATTGGCTGGAACCCCTGTGGTGGAGAGCGCTACCTGGACTTCCTGCGCTTTGCTGTCTTCGTCAACGGTGAGGAGGGGGTGGCAGTGGCAGAGCGGGAAGTATGGAGTCACTGGTCACACACCTCCCTCGAGATGACTGCTCGCACCCTGAGCCACAGATGGGGTCCAGGCAGGAATCCCTTCCAGCAGGCCTGGGGCTGGCAGGGGCCTGTGTTACCCCTGGAGGTGTTGGGTCCTGTGGCTGGCAGTGTTGGATCCTGGGGCTGGCGGGAGCCTGGTGTTACCCCTAGAGGTGTTGGGTCCTGGGGCTGGCAGGGGCCTGGTGTTACCTCTGGAGGTGTTGGGTCCTGGAGCTGGATGGGACCTGTGTTACCCCTGGAGGTGTTGGGTCCTGGGGCTGCATGGGGAGGTCTCTGATGGTGGCTCATGAGACCCCCTTTCCCCATGCGGGTGGCCAGGCGAGAGCGTGGAGGAGAACGCCAATGTGGTGGTGCGGCTGCTCATCCGGAAGCCTGAGTGCTTCGGACCCGCCCTGCGGGGTGAGGGTGGCTCAGGGCTGCTGGCTGCCATCGAAGAGGCCATCCGCATCTCCGAGGACCCTGCGAGGGATGGCCCAGGCATCCGCAGGGACCGGCGGCGCGAGCAGTGAGTCTCCCGGCCCCCTCCTCAATAGGGCAACCCGCCCTCCCTGGCCCCTGGCTGCCTCCCCAACCCACCCACCTTCCCTGCAGCTTTGGTGAGGAACCGCCTGAAGAAAACCGGGTGCACCTGGGACACGCCATCATGTCCTTCTATGCCGCCTTGATCGACCTGCTCGGACGCTGTGCACCAGAGATGCATGTGAGACCCTGAGCCAGGGCAGGATGGGAAGGGAGGGCAGGCACAGCCGCTTTGAACGCCTCATGCAGGCACTCGGTGACACGGAGTGAGCTCCCATATGTGGGTGGTCCTGGACTAGCAATGTTGGGGACACAACAGTGACCAAGACAGCCCCAGGGCCTGGTCTCACAGAGCTCCCAGTCCAATGGGGGAGACGGACAGTGACACCCAGAGTGGTCAGGGCTGGGATGGGGGAGCACAGGAAGAGGGGTCGGGGCTGGGATTGCAGGGCACACGGAGAGGACTCAGGATGGGGATGGGGAACACAGGGAGAGGGGTCAGGATGGGGATGGGGTCACAGGGATAGGGGTCGGGGCCAGGATGAGGGGTCGCAGGGAGAGGGGTCAGGATGAGGTTGGGGGGAACAAGGAGAGAGGTCGGGACTGGGGTGGGGGGGCACAGGCAGAGGAACGAGGGCTGGAAACTCTAGACAGCCTCCTGAGAAAGAGGCCTGCTCTACCCTCCTGTGTGGTAAGGGAGGGAGCAGAGCAGTCACTGAGTGGGGCACCAGCGCCTGATGAGTGCCCCTCTCCCTCCCTCTACTCCCCAGCTAATCCAAGCCGGCAAGGGTGAGGCCCTGCGGATCCGCGCCATCCTCCGCTCCCTTGTGCCCTTGGAGGACCTTGTGGGCATCATCAGCCTCCCACTGCAGATTCCCACCCTGGGCAAAGGTGCAGAGGGGATGGAACTTGGCGAAGGAGTGATGCTGGGGAGGGAGCGGCTGGGTCCGCAGGGCATCCCCGAACCCACCCTCCCTGCCTGCAGATGGGGCTCTGGTGCAGCCAAAGATGTCAGCATCCTTCGTGCCGGACCACAAGGCGTCCATGGTGCTCTTCCTGGACCGTGTGTATGGCATCGAGAACCAGGACTTCTTGCTGCACGTGCTGGACGTGGGGTTCCTGCCCGACATGAGGGCAGCCGCCTCGCTGGACACGGTGAGCAACCCTGCCCAGCCTGGCCACCCTCCCCACTTCCACAGAGGGACAGGAGATGGGTCACGGTAGAGCAGCAGCAGCTGCTTTTGTTTTTCTTGGGATTGTGGACATATCATAATCCCCAATACCATCATCAAGATAGAAAATGAAAACGAAGAAACACTGAATTCCGATGAAGGGTGAGTAGGAATCTCCAAGACCTCCAGTTATAAGAAATCATCATTTGAGGTCAGGCGTGGTGACTCGCGCCTGTAATCCCAGCACTTTGGGGAGCCGAGGCGAGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCGCATCTCTACTAAAAGTACAAAAATTAGCCAGACGTGGTGGCGCACACTTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCGGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCGCTGCACTCCCGCCTGGCAATGGAGCGAGACTCCATCTCAAAAAAAATATTTTGTTCGCAGTATTGGTTTGGTACTGTGGGCACACAGAACTCTGTACAGGAACAGCAATAACAGAAGGGTGACAGGGCAAGGAAGATGAGCACTGAGAAGTGACCACCGATTTGGCAAAGTCAAGGTCACTGGAAATGGGGATGAGCAGTTTCAGCAGGGGACAGAAGCCTTCCGAGAGGGGGTTTAAGAGAGCCTGGGGCTGTGCATGGTGGCTCACCCCTGTAATAACTTTGGGAGGCCGAGGCGGGTGGGTTGCTTGAAGCCAGGATTTTGAGACCAGCCTGGGCAACATGGAGAGATCCTGTCTCTACAAAAAAAATTTAAATATTAGCTGGGCATGGTGCTGCACACCTGTAGTCCCCTCTACTAGAGAGGCTGAGGTGGGAGAATCACTTGAGGGACAGACATTGAGGCTGCAGTGAACCATGATTACATCTCTGCATTCCAGCCTGGGCGACAGAGCGAGACCTTATCTCAGAAAAAAAAAAGAAAAATAAATTAGCCAGGCATGGAGGTGCGTCCCTGTAGTCCTAGCTACTAGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAATTCGAGGCTGCAGGGAGCTATGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGACCCCTGTCTCTAACAGATGAAAAAGAATGTATTACAGGAAGAAAGATGAGGGTTAGAGAGGAGATAAGCGTGCAGACCATTGATATTTACAGAAGAGCCAAATCTGTAATGGGGTTCATTAATCTCATCGACCAGTTGTGTGTGTTTGAAATTTTGCATAATCCAAAGTAGTAAGTGGTGGGGTGGGGGCTGTGGGCATAGGGGTGTGGGCATAGGGTGGGAGGAGGGTGGTAGAGATTGGGAGGAGCAGGTTTTGGGGGAGTCATCAGAAGCTTGGATCCTTTGGCCACAGTCGCTCAAGACAGGTGCCAGAGCAGCCCCAGGGGTGTGCAGCGGGCCTGATGTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAACCGCTACCTGTGCCTGGCCGTGCTGCCGCTCATCACCAAGTGTGCGCCGCTCTTTGCGGGCACAGAACACCGCGCCATCATGGTGGACTCTATGCTGCATACCGTGTACCGCCTGTCTCGGGGTCGTT 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CAAGGGCTGCTGGTTGCCCATTTTTATGTTATTTCTTGATGATATGCTGTTTAGCATAACAAGGGGTGGATTATTCATGCCTCCCCTTTCTAAACCATGTAGGGTAACTTTCTGATATTGCCATGACATTTGTAAACTGTCGTGGCGCTGGTGGGAGTGCAGCAGTGAGGATGACCAGAGGTCACTCTCGTTGCCATCTTGGTTTTGGTGGGTTTTGGCCGGCTTCTTTACTGCAGCCTATTTTATCAGCAAGGACTTTATGACCTGTATCTTGTGCCAACCTTCTATCTTGTTCTGTGACTTAGAATGCCTTAACCATCTGGGAATGCAGCCCAGTAGGTCTCAAGCTCCTGTTCAAGATGGAGTTGCTGTAGTTTACAGGCCTCTGACAGGACCAGGGCTAATGGGCCGAGGGATCAGAGCTGAACCGGACTGAGGAGCCGCAGGGCAGGGCAGGGCAGGGCAGAGGGCTGAGCCCCAGGAGGAAGGTGGCATGGGTCTGGTCTCTGACTGAGCCCCTTCTGCCCCCAGGTTGTGTCCTACCTGGCAGGCTGTGGCCTCCAGAGCTGCCCCATGCTTGTGGCCAAAGGGTACCCAGACATTGGCTGGAACCCCTGTGGTGGAGAGCGCTACCTGGACTTCCTGCGCTTTGCTGTCTTCGTCAACGGTGAGGAGGGGGTGGCAGTGGCAGAGCGGGAAGTATGGAGTCACTGGTCACACACCTCCCTCGAGATGACTGCTCGCACCCTGAGCCACAGATGGGGTCCAGGCAGGAATCCCTTCCAGCAGGCCTGGGGCTGGCAGGGGCCTGTGTTACCCCTGGAGGTGTTGGGTCCTGTGGCTGGCAGTGTTGGATCCTGGGGCTGGCGGGAGCCTGGTGTTACCCCTAGAGGTGTTGGGTCCTGGGGCTGGCAGGGGCCTGGTGTTACCTCTGGAGGTGTTGGGTCCTGGAGCTGGATGGGACCTGTGTTACCCCTGGAGGTGTTGGGTCCTGGGGCTGCATGGGGAGGTCTCTGATGGTGGCTCATGAGACCCCCTTTCCCCATGCGGGTGGCCAGGCGAGAGCGTGGAGGAGAACGCCAATGTGGTGGTGCGGCTGCTCATCCGGAAGCCTGAGTGCTTCGGACCCGCCCTGCGGGGTGAGGGTGGCTCAGGGCTGCTGGCTGCCATCGAAGAGGCCATCCGCATCTCCGAGGACCCTGCGAGGGATGGCCCAGGCATCCGCAGGGACCGGCGGCGCGAGCAGTGAGTCTCCCGGCCCCCTCCTCAATAGGGCAACCCGCCCTCCCTGGCCCCTGGCTGCCTCCCCAACCCACCCACCTTCCCTGCAGCTTTGGTGAGGAACCGCCTGAAGAAAACCGGGTGCACCTGGGACACGCCATCATGTCCTTCTATGCCGCCTTGATCGACCTGCTCGGACGCTGTGCACCAGAGATGCATGTGAGACCCTGAGCCAGGGCAGGATGGGAAGGGAGGGCAGGCACAGCCGCTTTGAACGCCTCATGCAGGCACTCGGTGACACGGAGTGAGCTCCCATATGTGGGTGGTCCTGGACTAGCAATGTTGGGGACACAACAGTGACCAAGACAGCCCCAGGGCCTGGTCTCACAGAGCTCCCAGTCCAATGGGGGAGACGGACAGTGACACCCAGAGTGGTCAGGGCTGGGATGGGGGAGCACAGGAAGAGGGGTCGGGGCTGGGATTGCAGGGCACACGGAGAGGACTCAGGATGGGGATGGGGAACACAGGGAGAGGGGTCAGGATGGGGATGGGGTCACAGGGATAGGGGTCGGGGCCAGGATGAGGGGTCGCAGGGAGAGGGGTCAGGATGAGGTTGGGGGGAACAAGGAGAGAGGTCGGGACTGGGGTGGGGGGGCACAGGCAGAGGAACGAGGGCTGGAAACTCTAGACAGCCTCCTGAGAAAGAGGCCTGCTCTACCCTCCTGTGTGGTAAGGGAGGGAGCAGAGCAGTCACTGAGTGGGGCACCAGCGCCTGATGAGTGCCCCTCTCCCTCCCTCTACTCCCCAGCTAATCCAAGCCGGCAAGGATGAGGCCCTGCGGATCCGCGCCATCCTCCGCTCCCTTGTGCCCTTGGAGGACCTTGTGGGCATCATCAGCCTCCCACTGCAGATTCCCACCCTGGGCAAAGGTGCAGAGGGGATGGAACTTGGCGAAGGAGTGATGCTGGGGAGGGAGCGGCTGGGTCCGCAGGGCATCCCCGAACCCACCCTCCCTGCCTGCAGATGGGGCTCTGGTGCAGCCAAAGATGTCAGCATCCTTCGTGCCGGACCACAAGGCGTCCATGGTGCTCTTCCTGGACCGTGTGTATGGCATCGAGAACCAGGACTTCTTGCTGCACGTGCTGGACGTGGGGTTCCTGCCCGACATGAGGGCAGCCGCCTCGCTGGACACGGTGAGCAACCCTGCCCAGCCTGGCCACCCTCCCCACTTCCACAGAGGGACAGGAGATGGGTCACGGTAGAGCAGCAGCAGCTGCTTTTGTTTTTCTTGGGATTGTGGACATATCATAATCCCCAATACCATCATCAAGATAGAAAATGAAAACGAAGAAACACTGAATTCCGATGAAGGGTGAGTAGGAATCTCCAAGACCTCCAGTTATAAGAAATCATCATTTGAGGTCAGGCGTGGTGACTCGCGCCTGTAATCCCAGCACTTTGGGGAGCCGAGGCGAGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCGCATCTCTACTAAAAGTACAAAAATTAGCCAGACGTGGTGGCGCACACTTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCGGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCGCTGCACTCCCGCCTGGCAATGGAGCGAGACTCCATCTCAAAAAAAATATTTTGTTCGCAGTATTGGTTTGGTACTGTGGGCACACAGAACTCTGTACAGGAACAGCAATAACAGAAGGGTGACAGGGCAAGGAAGATGAGCACTGAGAAGTGACCACCGATTTGGCAAAGTCAAGGTCACTGGAAATGGGGATGAGCAGTTTCAGCAGGGGACAGAAGCCTTCCGAGAGGGGGTTTAAGAGAGCCTGGGGCTGTGCATGGTGGCTCACCCCTGTAATAACTTTGGGAGGCCGAGGCGGGTGGGTTGCTTGAAGCCAGGATTTTGAGACCAGCCTGGGCAACATGGAGAGATCCTGTCTCTACAAAAAAAATTTAAATATTAGCTGGGCATGGTGCTGCACACCTGTAGTCCCCTCTACTAGAGAGGCTGAGGTGGGAGAATCACTTGAGGGACAGACATTGAGGCTGCAGTGAACCATGATTACATCTCTGCATTCCAGCCTGGGCGACAGAGCGAGACCTTATCTCAGAAAAAAAAAAGAAAAATAAATTAGCCAGGCATGGAGGTGCGTCCCTGTAGTCCTAGCTACTAGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAATTCGAGGCTGCAGGGAGCTATGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGACCCCTGTCTCTAACAGATGAAAAAGAATGTATTACAGGAAGAAAGATGAGGGTTAGAGAGGAGATAAGCGTGCAGACCATTGATATTTACAGAAGAGCCAAATCTGTAATGGGGTTCATTAATCTCATCGACCAGTTGTGTGTGTTTGAAATTTTGCATAATCCAAAGTAGTAAGTGGTGGGGTGGGGGCTGTGGGCATAGGGGTGTGGGCATAGGGTGGGAGGAGGGTGGTAGAGATTGGGAGGAGCAGGTTTTGGGGGAGTCATCAGAAGCTTGGATCCTTTGGCCACAGTCGCTCAAGACAGGTGCCAGAGCAGCCCCAGGGGTGTGCAGCGGGCCTGATGTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAACCGCTACCTGTGCCTGGCCGTGCTGCCGCTCATCACCAAGTGTGCGCCGCTCTTTGCGGGCACAGAACACCGCGCCATCATGGTGGACTCTATGCTGCATACCGTGTACCGCCTGTCTCGGGGTCGTT 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Task1_train_27091 | The gene RYR1 (ryanodine receptor 1) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Malignant hyperthermia, susceptibility to, 1 | ACCCTCAAGTGAGGCCTGGGGGCTGGGAGACAGAGAGGAAGATTTCAGGGGTGGAGGGAACCCCAGCTCCAACATCTGCTGACCCTGTGCCCCCAACAGTGTGATCATCCCGGAGAAGCTGGACTCCTTCATTAACAAGTTTGCGGAGTACACACACGAGAAGTGGGCCTTCGACAAGGTTGGCCTCAGGGTCCTCCTATCCAAGAAACCCTCAAGACCCCAGCTTTCCCCCCGACCTGGTTCTTCCCTGAGGCCCCAGATCTCCCTGAGACCCCCCAGCCTTCCCTAAGACCCTTAGCTTGTTCTGGGACCCCCCCAGGATTCTCTGTCCTCGGCTCCTCCAGGGTCGCCCCGTGTGTCCCCAACTGCTGCCTCCCCCTCACCCTGCCTCCCCTCCATCTCTAGATCCAGAACAACTGGTCCTATGGAGAGAACATAGACGAGGAGCTGAAGACCCACCCCATGCTGAGGCCCTACAAGACCTTTTCAGAGAAGGTGACCAGGCCTTGGGGCCCAGCATTGAGGGTCAAAATGAAACCCCCAAATTTGAGGATTCGGGGAGGAGTGAGGCAATTTCACATGTTTGCATCTAGGTGGATCTGTGGGTTAGGTCTCCCCATTCATGGACTTTGCCTTCTCTCAAACTTGGTAGAGTGGGTAGAGACTCCGAGAGAGTGGGTTTGATTCCTTGGCTGTAGTAAGACTTCTCGGAGACTCAAGTGTCTAATGGGATAAGGAGATTGGGTTTGGGAGGCTCTGTTACAGAGCAGGTAAGAGACTTGAGTTGGAATCCAGACTGGACCATTGCCTAGCCACATGGTCAGGGTTTTCTCCTTTGGGGTCCTTCCTCCACCCCTCTCTCATCCCATTCCACCAACTCCCCACCCTCCTGTCCACCCCAGGACAAAGAGATTTACCGCTGGCCCATCAAGGAGTCCCTGAAGGCCATGATTGCCTGGGAATGGACGATAGAGAAGGCCAGGGAGGGTGAGGAGGAGAAGACGGAAAAGAAAAAAACGCGGAAGATATCACAAAGTGCCCAGGTGAAGGCGGGGCCTGGGTGGAGGGCAGGGGCACGATGGGGGGAGGGTCTAGAACAAGGGGCATGGCCAGACAGGGAAGGGATGGAGAGGAGAGGGGCCCAGGGAGGTAGGTGGGGCAAGAGGGGTGCAGAAACCTGAGATCTGGGAAAGGAGAGGGCAGGGGTCTGAAGAACTGCAAAGGGCAGAGGAGAGAAGGATGGGGTGGTTTAGAGACAGGGCCTTAAGGAAAGGACAAGGGGTCTTGAGCCAGGGGAGGGTGGAGGGGGTAGAATGGACTAGTGGGGCCTGGGGAGGGGCTGGCCTGGGCTTCCTGCTAGCCCATCAGCCCACCTCCCATCTTCCCCTTGTCCTCTCAGACCTATGATCCTCGAGAAGGCTACAACCCTCAGCCCCCCGACCTTAGTGCTGTTACCCTGTCCCGGGAGCTGCAGGTGAGAGCCCTGATCCTTTTGGGGGGACATAGGGTGTCTTTGGGGGGGCTGGCATCCTCTGAATCTAGCCCTTGACTCTGCATCCACTCCCAGGCCATGGCAGAACAACTGGCAGAAAATTACCACAACACGTGGGGACGGAAGAAGAAGCAGGAGCTGGAAGCCAAAGGTGAGGGCGCCCATGCCGCCCCCACGCTACCCCCGTGGATTCACCGTGTGGTTTTGCTGATTGCCTTCATGCCCCTGAAACTCGGTTTCTCCATCTGTAGATGGGAATAATAACAGCGTTTACCACCATGGGGTAATGAGATGAGCACCAGCAAGCAATGTTTCCGTTATTCGTATCTTCTTTATCACCATAATTACGCATGCCGGGCACTGCAGGAACCACTTCAGTGAGAGTGGCCCGGGTCTTCCCCAGAGCCCTGATTTCTGGTCTTTGCCTCCCCAGGCGGTGGGACCCACCCCCTGCTGGTCCCCTACGACACGCTCACGGCCAAGGAGAAGGCACGAGATCGAGAGAAGGCCCAGGAGCTACTGAAATTCCTGCAGATGAATGGCTACGCGGTTACAAGGCACGCGGGTTGGGGCTCCCGCGGAAGAGCAGCAGGCAGAACACACCCGGCAAAGGCTGGAAGGGGCGGGGCCAGAGAGGGGTGGAGCCGAGAGGAACGGGGCCTGAGGAGCAAAGATGGAACCAGAGGGGAGGAGCTAAGGGAGTGGGGCCTGGACACAGAGGCGGGGCCAGATGGGGAGGAGTTCGAAATGGGCGGGGCTTAAGCACAGGCGGGACCAGAGAGGAGAGGAGGAAGAGAAGGGCGGGGCCCAGGGAGCAGAGGCGGGGCCAGAGAGTGGAGGAGACTGAGAGGGGCGGGGACCGGTGATTGGAGGCGGGACCAAAGAGGAGAGAAGGCTGAAAAGGGTGGGGCCCGGGGAACAGAGGTAGGGCCAAAGAGGAAGAGGCTGAGAGGGGCGGGGGCTGGGGAGCACAGGCGGGGCCAGAGAGGGGTGGGGAGGTACAGAGGGGCGGGGACTGGTGAGTGGAGGCGGGACCAAAGAGGAGAGAAGGGCTGAGAAGGGCAGGGCCCGGGGAACAGAGGTGGGGCCAAAGGGGAGGAGGCTGAGAGGGGCCGGCCCTGGGGAACAGAGGTGGGGCCAGAGAGGGGAGAAGGCTAAGTGGGGTGGGGCATGGGGGACTCAGAGTGGAGCCCCAACCTGGGGTGAAGCCAAAGCTGATAGAGACGGGGCCAGCAGGAGCAGAGGCGGACCTGAGAAGGGTGGGAAACTGTAGGGCCGGCGTCTGGGCTGATCCTTCTCTCCACATCTCCATGCAGAGGCCTTAAGGACATGGAACTGGACTCGTCTTCCATTGAAAAGCGGTTTGCCTTTGGCTTCCTGCAGCAGCTGCTGCGCTGGATGGACATTTCTCAGGAGTTCATTGCCCACCTGGGTACGGAGAAATACCCCCCGCTTATGCCCGCCCCACCTGCAGACACCAGTTCTGCAGACCAGACTCACCTAGGACACCTGTTCATGCACTCAATCCGTCCTCCCCTTATCTGATGTTTATTGAGCTTCTACTATGTGCCAGACACTGTTCTAGATGCTGGGGTACAGCAGTGAAGATGACAAATGACCCCTGCTCTCCTGCAACTACTCCTATGTTGGATTCAGGCAATTAGCATCATAAATAACTAAATCGTTTAGTGTTAGAAGGTGATCAGTGTTATGGGAAGAAGAAAACAATAGAGCCAGGTAGAGGGGATTGGGAGTGTGGAGCCAGTTGTAATTTTATTTTATTTCATTTTATTTTATTTTTATTTTTTATTTTATTTATTTATTTATTTTTGAGACAGAGTTTCGATCTTGCTGCCCAGGCTGGAGTGCAGTGGCACGGTCTCGGCTCACTGCAACCTCTGCTTTCTGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACGGGCGCCGCCACACCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTCGACCTCGTGATCTGCCGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGCGTGAGCCACCGCACCCGGCTTGCCAGTTGTAATTTTAAATAGGGTGTTCCAGAAAGACTTTGATGAGAATGTGATATCTGAGGCAAGCCATGAAGGAGGTCAGAGAGGAGCTGTGTGGACCTCTGGGGGCATCTGTTCCTTGCAGGCAAAGGAACAGCGAGTGCAAAGGCCCTGAGAGGTCCCTGGTGTGAGTGTCAGGATGCCCTGTAGCTGAAGCAGAGTCATCGAGGGGGACGGTGAGATAAACGAGGTCACAGAGGTGACTGGGGCAGATCATGCAGGGCTTTGCAAGCTGTGATGAGGACTTTGACCTTACCTGGAATGAGATGGAGTTGGGGGTTGGGGGCTGAGCCGAGGAGGGACGTGATCCATAATTCTGGTGTTCACAGGGTCCCTCTGGCTTGACTGGGGTGGGGACAGGAGCCGAAAAGGGTGAGAACTGGGCAGATTTCTGGATCTATTTTGAAGGCTGAGGCTGCTGGGGTGCCCCCCAGTGCCTCTTACAGGCC 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ACCCTCAAGTGAGGCCTGGGGGCTGGGAGACAGAGAGGAAGATTTCAGGGGTGGAGGGAACCCCAGCTCCAACATCTGCTGACCCTGTGCCCCCAACAGTGTGATCATCCCGGAGAAGCTGGACTCCTTCATTAACAAGTTTGCGGAGTACACACACGAGAAGTGGGCCTTCGACAAGGTTGGCCTCAGGGTCCTCCTATCCAAGAAACCCTCAAGACCCCAGCTTTCCCCCCGACCTGGTTCTTCCCTGAGGCCCCAGATCTCCCTGAGACCCCCCAGCCTTCCCTAAGACCCTTAGCTTGTTCTGGGACCCCCCCAGGATTCTCTGTCCTCGGCTCCTCCAGGGTCGCCCCGTGTGTCCCCAACTGCTGCCTCCCCCTCACCCTGCCTCCCCTCCATCTCTAGATCCAGAACAACTGGTCCTATGGAGAGAACATAGACGAGGAGCTGAAGACCCACCCCATGCTGAGGCCCTACAAGACCTTTTCAGAGAAGGTGACCAGGCCTTGGGGCCCAGCATTGAGGGTCAAAATGAAACCCCCAAATTTGAGGATTCGGGGAGGAGTGAGGCAATTTCACATGTTTGCATCTAGGTGGATCTGTGGGTTAGGTCTCCCCATTCATGGACTTTGCCTTCTCTCAAACTTGGTAGAGTGGGTAGAGACTCCGAGAGAGTGGGTTTGATTCCTTGGCTGTAGTAAGACTTCTCGGAGACTCAAGTGTCTAATGGGATAAGGAGATTGGGTTTGGGAGGCTCTGTTACAGAGCAGGTAAGAGACTTGAGTTGGAATCCAGACTGGACCATTGCCTAGCCACATGGTCAGGGTTTTCTCCTTTGGGGTCCTTCCTCCACCCCTCTCTCATCCCATTCCACCAACTCCCCACCCTCCTGTCCACCCCAGGACAAAGAGATTTACCGCTGGCCCATCAAGGAGTCCCTGAAGGCCATGATTGCCTGGGAATGGACGATAGAGAAGGCCAGGGAGGGTGAGGAGGAGAAGACGGAAAAGAAAAAAACGCGGAAGATATCACAAAGTGCCCAGGTGAAGGCGGGGCCTGGGTGGAGGGCAGGGGCACGATGGGGGGAGGGTCTAGAACAAGGGGCATGGCCAGACAGGGAAGGGATGGAGAGGAGAGGGGCCCAGGGAGGTAGGTGGGGCAAGAGGGGTGCAGAAACCTGAGATCTGGGAAAGGAGAGGGCAGGGGTCTGAAGAACTGCAAAGGGCAGAGGAGAGAAGGATGGGGTGGTTTAGAGACAGGGCCTTAAGGAAAGGACAAGGGGTCTTGAGCCAGGGGAGGGTGGAGGGGGTAGAATGGACTAGTGGGGCCTGGGGAGGGGCTGGCCTGGGCTTCCTGCTAGCCCATCAGCCCACCTCCCATCTTCCCCTTGTCCTCTCAGACCTATGATCCTCGAGAAGGCTACAACCCTCAGCCCCCCGACCTTAGTGCTGTTACCCTGTCCCGGGAGCTGCAGGTGAGAGCCCTGATCCTTTTGGGGGGACATAGGGTGTCTTTGGGGGGGCTGGCATCCTCTGAATCTAGCCCTTGACTCTGCATCCACTCCCAGGCCATGGCAGAACAACTGGCAGAAAATTACCACAACACGTGGGGACGGAAGAAGAAGCAGGAGCTGGAAGCCAAAGGTGAGGGCGCCCATGCCGCCCCCACGCTACCCCCGTGGATTCACCGTGTGGTTTTGCTGATTGCCTTCATGCCCCTGAAACTCGGTTTCTCCATCTGTAGATGGGAATAATAACAGCGTTTACCACCATGGGGTAATGAGATGAGCACCAGCAAGCAATGTTTCCGTTATTCGTATCTTCTTTATCACCATAATTACGCATGCCGGGCACTGCAGGAACCACTTCAGTGAGAGTGGCCCGGGTCTTCCCCAGAGCCCTGATTTCTGGTCTTTGCCTCCCCAGGCGGTGGGACCCACCCCCTGCTGGTCCCCTACGACACGCTCACGGCCAAGGAGAAGGCACGAGATCGAGAGAAGGCCCAGGAGCTACTGAAATTCCTGCAGATGAATGGCTACGCGGTTACAAAGCACGCGGGTTGGGGCTCCCGCGGAAGAGCAGCAGGCAGAACACACCCGGCAAAGGCTGGAAGGGGCGGGGCCAGAGAGGGGTGGAGCCGAGAGGAACGGGGCCTGAGGAGCAAAGATGGAACCAGAGGGGAGGAGCTAAGGGAGTGGGGCCTGGACACAGAGGCGGGGCCAGATGGGGAGGAGTTCGAAATGGGCGGGGCTTAAGCACAGGCGGGACCAGAGAGGAGAGGAGGAAGAGAAGGGCGGGGCCCAGGGAGCAGAGGCGGGGCCAGAGAGTGGAGGAGACTGAGAGGGGCGGGGACCGGTGATTGGAGGCGGGACCAAAGAGGAGAGAAGGCTGAAAAGGGTGGGGCCCGGGGAACAGAGGTAGGGCCAAAGAGGAAGAGGCTGAGAGGGGCGGGGGCTGGGGAGCACAGGCGGGGCCAGAGAGGGGTGGGGAGGTACAGAGGGGCGGGGACTGGTGAGTGGAGGCGGGACCAAAGAGGAGAGAAGGGCTGAGAAGGGCAGGGCCCGGGGAACAGAGGTGGGGCCAAAGGGGAGGAGGCTGAGAGGGGCCGGCCCTGGGGAACAGAGGTGGGGCCAGAGAGGGGAGAAGGCTAAGTGGGGTGGGGCATGGGGGACTCAGAGTGGAGCCCCAACCTGGGGTGAAGCCAAAGCTGATAGAGACGGGGCCAGCAGGAGCAGAGGCGGACCTGAGAAGGGTGGGAAACTGTAGGGCCGGCGTCTGGGCTGATCCTTCTCTCCACATCTCCATGCAGAGGCCTTAAGGACATGGAACTGGACTCGTCTTCCATTGAAAAGCGGTTTGCCTTTGGCTTCCTGCAGCAGCTGCTGCGCTGGATGGACATTTCTCAGGAGTTCATTGCCCACCTGGGTACGGAGAAATACCCCCCGCTTATGCCCGCCCCACCTGCAGACACCAGTTCTGCAGACCAGACTCACCTAGGACACCTGTTCATGCACTCAATCCGTCCTCCCCTTATCTGATGTTTATTGAGCTTCTACTATGTGCCAGACACTGTTCTAGATGCTGGGGTACAGCAGTGAAGATGACAAATGACCCCTGCTCTCCTGCAACTACTCCTATGTTGGATTCAGGCAATTAGCATCATAAATAACTAAATCGTTTAGTGTTAGAAGGTGATCAGTGTTATGGGAAGAAGAAAACAATAGAGCCAGGTAGAGGGGATTGGGAGTGTGGAGCCAGTTGTAATTTTATTTTATTTCATTTTATTTTATTTTTATTTTTTATTTTATTTATTTATTTATTTTTGAGACAGAGTTTCGATCTTGCTGCCCAGGCTGGAGTGCAGTGGCACGGTCTCGGCTCACTGCAACCTCTGCTTTCTGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACGGGCGCCGCCACACCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTCGACCTCGTGATCTGCCGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGCGTGAGCCACCGCACCCGGCTTGCCAGTTGTAATTTTAAATAGGGTGTTCCAGAAAGACTTTGATGAGAATGTGATATCTGAGGCAAGCCATGAAGGAGGTCAGAGAGGAGCTGTGTGGACCTCTGGGGGCATCTGTTCCTTGCAGGCAAAGGAACAGCGAGTGCAAAGGCCCTGAGAGGTCCCTGGTGTGAGTGTCAGGATGCCCTGTAGCTGAAGCAGAGTCATCGAGGGGGACGGTGAGATAAACGAGGTCACAGAGGTGACTGGGGCAGATCATGCAGGGCTTTGCAAGCTGTGATGAGGACTTTGACCTTACCTGGAATGAGATGGAGTTGGGGGTTGGGGGCTGAGCCGAGGAGGGACGTGATCCATAATTCTGGTGTTCACAGGGTCCCTCTGGCTTGACTGGGGTGGGGACAGGAGCCGAAAAGGGTGAGAACTGGGCAGATTTCTGGATCTATTTTGAAGGCTGAGGCTGCTGGGGTGCCCCCCAGTGCCTCTTACAGGCC 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Task1_train_27092 | This alteration occurs within gene RYR1 (ryanodine receptor 1) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; RYR1-related disorder | ACCCTCAAGTGAGGCCTGGGGGCTGGGAGACAGAGAGGAAGATTTCAGGGGTGGAGGGAACCCCAGCTCCAACATCTGCTGACCCTGTGCCCCCAACAGTGTGATCATCCCGGAGAAGCTGGACTCCTTCATTAACAAGTTTGCGGAGTACACACACGAGAAGTGGGCCTTCGACAAGGTTGGCCTCAGGGTCCTCCTATCCAAGAAACCCTCAAGACCCCAGCTTTCCCCCCGACCTGGTTCTTCCCTGAGGCCCCAGATCTCCCTGAGACCCCCCAGCCTTCCCTAAGACCCTTAGCTTGTTCTGGGACCCCCCCAGGATTCTCTGTCCTCGGCTCCTCCAGGGTCGCCCCGTGTGTCCCCAACTGCTGCCTCCCCCTCACCCTGCCTCCCCTCCATCTCTAGATCCAGAACAACTGGTCCTATGGAGAGAACATAGACGAGGAGCTGAAGACCCACCCCATGCTGAGGCCCTACAAGACCTTTTCAGAGAAGGTGACCAGGCCTTGGGGCCCAGCATTGAGGGTCAAAATGAAACCCCCAAATTTGAGGATTCGGGGAGGAGTGAGGCAATTTCACATGTTTGCATCTAGGTGGATCTGTGGGTTAGGTCTCCCCATTCATGGACTTTGCCTTCTCTCAAACTTGGTAGAGTGGGTAGAGACTCCGAGAGAGTGGGTTTGATTCCTTGGCTGTAGTAAGACTTCTCGGAGACTCAAGTGTCTAATGGGATAAGGAGATTGGGTTTGGGAGGCTCTGTTACAGAGCAGGTAAGAGACTTGAGTTGGAATCCAGACTGGACCATTGCCTAGCCACATGGTCAGGGTTTTCTCCTTTGGGGTCCTTCCTCCACCCCTCTCTCATCCCATTCCACCAACTCCCCACCCTCCTGTCCACCCCAGGACAAAGAGATTTACCGCTGGCCCATCAAGGAGTCCCTGAAGGCCATGATTGCCTGGGAATGGACGATAGAGAAGGCCAGGGAGGGTGAGGAGGAGAAGACGGAAAAGAAAAAAACGCGGAAGATATCACAAAGTGCCCAGGTGAAGGCGGGGCCTGGGTGGAGGGCAGGGGCACGATGGGGGGAGGGTCTAGAACAAGGGGCATGGCCAGACAGGGAAGGGATGGAGAGGAGAGGGGCCCAGGGAGGTAGGTGGGGCAAGAGGGGTGCAGAAACCTGAGATCTGGGAAAGGAGAGGGCAGGGGTCTGAAGAACTGCAAAGGGCAGAGGAGAGAAGGATGGGGTGGTTTAGAGACAGGGCCTTAAGGAAAGGACAAGGGGTCTTGAGCCAGGGGAGGGTGGAGGGGGTAGAATGGACTAGTGGGGCCTGGGGAGGGGCTGGCCTGGGCTTCCTGCTAGCCCATCAGCCCACCTCCCATCTTCCCCTTGTCCTCTCAGACCTATGATCCTCGAGAAGGCTACAACCCTCAGCCCCCCGACCTTAGTGCTGTTACCCTGTCCCGGGAGCTGCAGGTGAGAGCCCTGATCCTTTTGGGGGGACATAGGGTGTCTTTGGGGGGGCTGGCATCCTCTGAATCTAGCCCTTGACTCTGCATCCACTCCCAGGCCATGGCAGAACAACTGGCAGAAAATTACCACAACACGTGGGGACGGAAGAAGAAGCAGGAGCTGGAAGCCAAAGGTGAGGGCGCCCATGCCGCCCCCACGCTACCCCCGTGGATTCACCGTGTGGTTTTGCTGATTGCCTTCATGCCCCTGAAACTCGGTTTCTCCATCTGTAGATGGGAATAATAACAGCGTTTACCACCATGGGGTAATGAGATGAGCACCAGCAAGCAATGTTTCCGTTATTCGTATCTTCTTTATCACCATAATTACGCATGCCGGGCACTGCAGGAACCACTTCAGTGAGAGTGGCCCGGGTCTTCCCCAGAGCCCTGATTTCTGGTCTTTGCCTCCCCAGGCGGTGGGACCCACCCCCTGCTGGTCCCCTACGACACGCTCACGGCCAAGGAGAAGGCACGAGATCGAGAGAAGGCCCAGGAGCTACTGAAATTCCTGCAGATGAATGGCTACGCGGTTACAAGGCACGCGGGTTGGGGCTCCCGCGGAAGAGCAGCAGGCAGAACACACCCGGCAAAGGCTGGAAGGGGCGGGGCCAGAGAGGGGTGGAGCCGAGAGGAACGGGGCCTGAGGAGCAAAGATGGAACCAGAGGGGAGGAGCTAAGGGAGTGGGGCCTGGACACAGAGGCGGGGCCAGATGGGGAGGAGTTCGAAATGGGCGGGGCTTAAGCACAGGCGGGACCAGAGAGGAGAGGAGGAAGAGAAGGGCGGGGCCCAGGGAGCAGAGGCGGGGCCAGAGAGTGGAGGAGACTGAGAGGGGCGGGGACCGGTGATTGGAGGCGGGACCAAAGAGGAGAGAAGGCTGAAAAGGGTGGGGCCCGGGGAACAGAGGTAGGGCCAAAGAGGAAGAGGCTGAGAGGGGCGGGGGCTGGGGAGCACAGGCGGGGCCAGAGAGGGGTGGGGAGGTACAGAGGGGCGGGGACTGGTGAGTGGAGGCGGGACCAAAGAGGAGAGAAGGGCTGAGAAGGGCAGGGCCCGGGGAACAGAGGTGGGGCCAAAGGGGAGGAGGCTGAGAGGGGCCGGCCCTGGGGAACAGAGGTGGGGCCAGAGAGGGGAGAAGGCTAAGTGGGGTGGGGCATGGGGGACTCAGAGTGGAGCCCCAACCTGGGGTGAAGCCAAAGCTGATAGAGACGGGGCCAGCAGGAGCAGAGGCGGACCTGAGAAGGGTGGGAAACTGTAGGGCCGGCGTCTGGGCTGATCCTTCTCTCCACATCTCCATGCAGAGGCCTTAAGGACATGGAACTGGACTCGTCTTCCATTGAAAAGCGGTTTGCCTTTGGCTTCCTGCAGCAGCTGCTGCGCTGGATGGACATTTCTCAGGAGTTCATTGCCCACCTGGGTACGGAGAAATACCCCCCGCTTATGCCCGCCCCACCTGCAGACACCAGTTCTGCAGACCAGACTCACCTAGGACACCTGTTCATGCACTCAATCCGTCCTCCCCTTATCTGATGTTTATTGAGCTTCTACTATGTGCCAGACACTGTTCTAGATGCTGGGGTACAGCAGTGAAGATGACAAATGACCCCTGCTCTCCTGCAACTACTCCTATGTTGGATTCAGGCAATTAGCATCATAAATAACTAAATCGTTTAGTGTTAGAAGGTGATCAGTGTTATGGGAAGAAGAAAACAATAGAGCCAGGTAGAGGGGATTGGGAGTGTGGAGCCAGTTGTAATTTTATTTTATTTCATTTTATTTTATTTTTATTTTTTATTTTATTTATTTATTTATTTTTGAGACAGAGTTTCGATCTTGCTGCCCAGGCTGGAGTGCAGTGGCACGGTCTCGGCTCACTGCAACCTCTGCTTTCTGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACGGGCGCCGCCACACCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTCGACCTCGTGATCTGCCGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGCGTGAGCCACCGCACCCGGCTTGCCAGTTGTAATTTTAAATAGGGTGTTCCAGAAAGACTTTGATGAGAATGTGATATCTGAGGCAAGCCATGAAGGAGGTCAGAGAGGAGCTGTGTGGACCTCTGGGGGCATCTGTTCCTTGCAGGCAAAGGAACAGCGAGTGCAAAGGCCCTGAGAGGTCCCTGGTGTGAGTGTCAGGATGCCCTGTAGCTGAAGCAGAGTCATCGAGGGGGACGGTGAGATAAACGAGGTCACAGAGGTGACTGGGGCAGATCATGCAGGGCTTTGCAAGCTGTGATGAGGACTTTGACCTTACCTGGAATGAGATGGAGTTGGGGGTTGGGGGCTGAGCCGAGGAGGGACGTGATCCATAATTCTGGTGTTCACAGGGTCCCTCTGGCTTGACTGGGGTGGGGACAGGAGCCGAAAAGGGTGAGAACTGGGCAGATTTCTGGATCTATTTTGAAGGCTGAGGCTGCTGGGGTGCCCCCCAGTGCCTCTTACAGGCC 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ACCCTCAAGTGAGGCCTGGGGGCTGGGAGACAGAGAGGAAGATTTCAGGGGTGGAGGGAACCCCAGCTCCAACATCTGCTGACCCTGTGCCCCCAACAGTGTGATCATCCCGGAGAAGCTGGACTCCTTCATTAACAAGTTTGCGGAGTACACACACGAGAAGTGGGCCTTCGACAAGGTTGGCCTCAGGGTCCTCCTATCCAAGAAACCCTCAAGACCCCAGCTTTCCCCCCGACCTGGTTCTTCCCTGAGGCCCCAGATCTCCCTGAGACCCCCCAGCCTTCCCTAAGACCCTTAGCTTGTTCTGGGACCCCCCCAGGATTCTCTGTCCTCGGCTCCTCCAGGGTCGCCCCGTGTGTCCCCAACTGCTGCCTCCCCCTCACCCTGCCTCCCCTCCATCTCTAGATCCAGAACAACTGGTCCTATGGAGAGAACATAGACGAGGAGCTGAAGACCCACCCCATGCTGAGGCCCTACAAGACCTTTTCAGAGAAGGTGACCAGGCCTTGGGGCCCAGCATTGAGGGTCAAAATGAAACCCCCAAATTTGAGGATTCGGGGAGGAGTGAGGCAATTTCACATGTTTGCATCTAGGTGGATCTGTGGGTTAGGTCTCCCCATTCATGGACTTTGCCTTCTCTCAAACTTGGTAGAGTGGGTAGAGACTCCGAGAGAGTGGGTTTGATTCCTTGGCTGTAGTAAGACTTCTCGGAGACTCAAGTGTCTAATGGGATAAGGAGATTGGGTTTGGGAGGCTCTGTTACAGAGCAGGTAAGAGACTTGAGTTGGAATCCAGACTGGACCATTGCCTAGCCACATGGTCAGGGTTTTCTCCTTTGGGGTCCTTCCTCCACCCCTCTCTCATCCCATTCCACCAACTCCCCACCCTCCTGTCCACCCCAGGACAAAGAGATTTACCGCTGGCCCATCAAGGAGTCCCTGAAGGCCATGATTGCCTGGGAATGGACGATAGAGAAGGCCAGGGAGGGTGAGGAGGAGAAGACGGAAAAGAAAAAAACGCGGAAGATATCACAAAGTGCCCAGGTGAAGGCGGGGCCTGGGTGGAGGGCAGGGGCACGATGGGGGGAGGGTCTAGAACAAGGGGCATGGCCAGACAGGGAAGGGATGGAGAGGAGAGGGGCCCAGGGAGGTAGGTGGGGCAAGAGGGGTGCAGAAACCTGAGATCTGGGAAAGGAGAGGGCAGGGGTCTGAAGAACTGCAAAGGGCAGAGGAGAGAAGGATGGGGTGGTTTAGAGACAGGGCCTTAAGGAAAGGACAAGGGGTCTTGAGCCAGGGGAGGGTGGAGGGGGTAGAATGGACTAGTGGGGCCTGGGGAGGGGCTGGCCTGGGCTTCCTGCTAGCCCATCAGCCCACCTCCCATCTTCCCCTTGTCCTCTCAGACCTATGATCCTCGAGAAGGCTACAACCCTCAGCCCCCCGACCTTAGTGCTGTTACCCTGTCCCGGGAGCTGCAGGTGAGAGCCCTGATCCTTTTGGGGGGACATAGGGTGTCTTTGGGGGGGCTGGCATCCTCTGAATCTAGCCCTTGACTCTGCATCCACTCCCAGGCCATGGCAGAACAACTGGCAGAAAATTACCACAACACGTGGGGACGGAAGAAGAAGCAGGAGCTGGAAGCCAAAGGTGAGGGCGCCCATGCCGCCCCCACGCTACCCCCGTGGATTCACCGTGTGGTTTTGCTGATTGCCTTCATGCCCCTGAAACTCGGTTTCTCCATCTGTAGATGGGAATAATAACAGCGTTTACCACCATGGGGTAATGAGATGAGCACCAGCAAGCAATGTTTCCGTTATTCGTATCTTCTTTATCACCATAATTACGCATGCCGGGCACTGCAGGAACCACTTCAGTGAGAGTGGCCCGGGTCTTCCCCAGAGCCCTGATTTCTGGTCTTTGCCTCCCCAGGCGGTGGGACCCACCCCCTGCTGGTCCCCTACGACACGCTCACGGCCAAGGAGAAGGCACGAGATCGAGAGAAGGCCCAGGAGCTACTGAAATTCCTGCAGATGAATGGCTACGCGGTTACAAAGCACGCGGGTTGGGGCTCCCGCGGAAGAGCAGCAGGCAGAACACACCCGGCAAAGGCTGGAAGGGGCGGGGCCAGAGAGGGGTGGAGCCGAGAGGAACGGGGCCTGAGGAGCAAAGATGGAACCAGAGGGGAGGAGCTAAGGGAGTGGGGCCTGGACACAGAGGCGGGGCCAGATGGGGAGGAGTTCGAAATGGGCGGGGCTTAAGCACAGGCGGGACCAGAGAGGAGAGGAGGAAGAGAAGGGCGGGGCCCAGGGAGCAGAGGCGGGGCCAGAGAGTGGAGGAGACTGAGAGGGGCGGGGACCGGTGATTGGAGGCGGGACCAAAGAGGAGAGAAGGCTGAAAAGGGTGGGGCCCGGGGAACAGAGGTAGGGCCAAAGAGGAAGAGGCTGAGAGGGGCGGGGGCTGGGGAGCACAGGCGGGGCCAGAGAGGGGTGGGGAGGTACAGAGGGGCGGGGACTGGTGAGTGGAGGCGGGACCAAAGAGGAGAGAAGGGCTGAGAAGGGCAGGGCCCGGGGAACAGAGGTGGGGCCAAAGGGGAGGAGGCTGAGAGGGGCCGGCCCTGGGGAACAGAGGTGGGGCCAGAGAGGGGAGAAGGCTAAGTGGGGTGGGGCATGGGGGACTCAGAGTGGAGCCCCAACCTGGGGTGAAGCCAAAGCTGATAGAGACGGGGCCAGCAGGAGCAGAGGCGGACCTGAGAAGGGTGGGAAACTGTAGGGCCGGCGTCTGGGCTGATCCTTCTCTCCACATCTCCATGCAGAGGCCTTAAGGACATGGAACTGGACTCGTCTTCCATTGAAAAGCGGTTTGCCTTTGGCTTCCTGCAGCAGCTGCTGCGCTGGATGGACATTTCTCAGGAGTTCATTGCCCACCTGGGTACGGAGAAATACCCCCCGCTTATGCCCGCCCCACCTGCAGACACCAGTTCTGCAGACCAGACTCACCTAGGACACCTGTTCATGCACTCAATCCGTCCTCCCCTTATCTGATGTTTATTGAGCTTCTACTATGTGCCAGACACTGTTCTAGATGCTGGGGTACAGCAGTGAAGATGACAAATGACCCCTGCTCTCCTGCAACTACTCCTATGTTGGATTCAGGCAATTAGCATCATAAATAACTAAATCGTTTAGTGTTAGAAGGTGATCAGTGTTATGGGAAGAAGAAAACAATAGAGCCAGGTAGAGGGGATTGGGAGTGTGGAGCCAGTTGTAATTTTATTTTATTTCATTTTATTTTATTTTTATTTTTTATTTTATTTATTTATTTATTTTTGAGACAGAGTTTCGATCTTGCTGCCCAGGCTGGAGTGCAGTGGCACGGTCTCGGCTCACTGCAACCTCTGCTTTCTGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACGGGCGCCGCCACACCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTCGACCTCGTGATCTGCCGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGCGTGAGCCACCGCACCCGGCTTGCCAGTTGTAATTTTAAATAGGGTGTTCCAGAAAGACTTTGATGAGAATGTGATATCTGAGGCAAGCCATGAAGGAGGTCAGAGAGGAGCTGTGTGGACCTCTGGGGGCATCTGTTCCTTGCAGGCAAAGGAACAGCGAGTGCAAAGGCCCTGAGAGGTCCCTGGTGTGAGTGTCAGGATGCCCTGTAGCTGAAGCAGAGTCATCGAGGGGGACGGTGAGATAAACGAGGTCACAGAGGTGACTGGGGCAGATCATGCAGGGCTTTGCAAGCTGTGATGAGGACTTTGACCTTACCTGGAATGAGATGGAGTTGGGGGTTGGGGGCTGAGCCGAGGAGGGACGTGATCCATAATTCTGGTGTTCACAGGGTCCCTCTGGCTTGACTGGGGTGGGGACAGGAGCCGAAAAGGGTGAGAACTGGGCAGATTTCTGGATCTATTTTGAAGGCTGAGGCTGCTGGGGTGCCCCCCAGTGCCTCTTACAGGCC 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Task1_train_27093 | The gene RYR1 (ryanodine receptor 1) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; RYR1-related disorder | GGCCCTGAGAGGTCCCTGGTGTGAGTGTCAGGATGCCCTGTAGCTGAAGCAGAGTCATCGAGGGGGACGGTGAGATAAACGAGGTCACAGAGGTGACTGGGGCAGATCATGCAGGGCTTTGCAAGCTGTGATGAGGACTTTGACCTTACCTGGAATGAGATGGAGTTGGGGGTTGGGGGCTGAGCCGAGGAGGGACGTGATCCATAATTCTGGTGTTCACAGGGTCCCTCTGGCTTGACTGGGGTGGGGACAGGAGCCGAAAAGGGTGAGAACTGGGCAGATTTCTGGATCTATTTTGAAGGCTGAGGCTGCTGGGGTGCCCCCCAGTGCCTCTTACAGGCCACTAAGAATTACAGCTAGGCCCTACAATCCCCTCCAGTTTCCCTTAGAGACCCCCCCCAGCATTCCCCTTGAGAGCTACCCTCAGGAACCCCCAAATTCCCTCCAGGTGAGTGGCAGAGCAGGATTCGCTGTCACGTCTCACCTCAAAGCCTGCCTGCTGAGCTTCAGTGCTGCACATCCCCCTGACAATTCCCTTCCCTCTCTAGACCTCAGTTTCCTCACCTGTGATATGGGCATATGTTCACCATAACTAGCCATGGTTCTGTTACTTACTGGGTGACCTGGGGTTAGTTACTTCACCTGAGTTTCCTCATCTGAAAAATGGGGGTTGGGAACCAACTGCACAGACCTCCAAGTTGTAAGGAGACTGTGTGAGGATGACATGTCTCACAGTGCCAAGGACATAGCAAGTGTTTAATAATTGGAGCCAGTATTATTATTATTATTATTATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGTTGGACTGCAGTGGCGCGATCTCAGCTCACTGCAGGCTCCGCCTCCAGATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCGGTTAATTTTTTGTGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCAGTATTATTATTTTAATAGTATCAGTTATGACTGTCACCATTATTATTGTTTGAAATTTATTTCCATTTTGAAATTAACTCTAATTTGTTTACATTGACTTCTTGTTTCATTTGGTTCATTCATTCATTTATTGCAGATTAACTCAGTGCCATGTATTCAAGTTTAGAATGAAAAGCACTTATGGTGGGTGAGGAAGGGCATGTTCCATGACCTTAACCCATTCCAGTTTGTTTTCCCCATTGTCAGCTTCAGAAAGGGTTTGATCAAGGAGTTGTCAGCTTCAAGAAGGATTTGATCAAGAAGTTGGGGGAAAGCACATTGGGAGGTTGAGGCGGGTGGATCACCTGAGGTCAGAAGTTTGAGACCAGCCTGGACAACATGGTGAAACCTTGGCTGTACTAAAAATACAAAAATTAGCTTGGTGTGTGGGAGCATGTCTGTAATCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACTCAGGAGGCAGAGAGTGCAGTGAGCCGAGATCGTGCCATTGCACTCCTGTCTGGGTGACAAGAAAAAAAAAAGGAGTTGGGGGAATCAGATGAAAGATAGGAGAAAGGTTTATCTCAAAGCCAACACAAATGACTTCATACCAATACTTTATCCCCCATCATTTCCCAACTCTGCTCCCAGCATCCTTCCCATCAGAACACCCTGGGTTCCCCAGCCTTGAACCCACTGTGAACCCTATTTGCCCTCCCTACAGAGGCTGTGGTCAGCAGTGGGCGAGTGGAAAAGTCCCCACATGAACAGGAGATTAAATTCTTTGCCAAGGTGAGAGGTGGGCTTAGAAGCTGGAGGGCGCTGGGGACTCATAGGCTCTCCCCACCCCTCATTGGACCCTTTATCTCCCCCAACCCGTCTCCAGATCCTGCTCCCTTTGATCAACCAGTACTTCACCAACCACTGCCTCTATTTCTTGTCCACTCCGGCTAAAGTGCTGGGCAGCGGTGGCCACGCCTCTAACAAGGAGAAGGAAATGATCACCAGGTGGGCCGCCTGTGACCCTGGACCCAGCCCCCTGACCTCACAGGATTGTAATCCTTTGCCCATGGAGGCTCTGTCCTGGGTGCTGGGTGTTGGGTACTGACCGTCTCCTGCAAAGGCGATTGAAGGGTGACCAGCCATCCTAGTGTACCCGGGACTGAAGGGTTTCCCAGGATGTGGGACTCTCAGGCAACTTGGGACAAATCGATCACCCTGTCCAGGAAGGCCAACTCAAGGCCGGGCGTGGTGGCTCATGCCTGTAATTCCAACACTTTGGGAAGCTGAGGTGGGAAGATCACTTGAAGCCAGGAGTTTGAGGCCAGCCTGGGCAACATACTGAGACCCCATTTCTACAAAAAATACAAAAATTAGCCGGGCTTGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCGGGAGGATCACTTGAACCCAGGAGTTGGAGGCTGCAGGGAGCTGGGATCGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTAAAAAAAATAAACAAACAAAGAATAATAAGAAAGGCTGACTCACCCCTCACCTCCCCAGCATCCCAGTTACTGCCTGTGACATTCCAGCTTGCCCATCTCTCTGCCCCTTCCCATCCCTCCTGTCTCCATCATTTGGACCCCCTCCTGGTTCCTCTCTCCTTGTCTTCTCTGTCCCTGTCTCCTCTAATTGGGTCACGCTGTCCTCGTCTCCTTGGCCTCCTCACTCGCTGTTTCTCCTGCCTTCTGTCCCTTTCTCTTTCTTCAGCCTCTTCTGCAAACTTGCTGCTCTCGTCCGCCACCGAGTCTCTCTCTTTGGTAAGTGGCTCCACACCTTCGGTCTTCCTCCCTAATCTTTCTCTTCCCCACCCTGAAGAAATAGCTCCCAGGTTCTGCCTTAATTTGAACAACCTTTGTTGTTTTCTTCCCCTGGACCTGGAGACATGGACCAGGTATCCGGGGGGTAGGGCAGTGACTGAGATGCCCTGGGCCTGCCCTCAATGGAGCTCCCAGGCCAGTGGGAGAGACAGACCTATCTCCAGACAAGGACAGCCCAGTGGGGTCAGGGCTGGGCAGGAGGAAGGCCAGGAGAGTGGTTGGGCTGGGGAGGAGGGACATTTGGAGGCGCTGTAGGAGTCTGGGGGGGTGGGGGTGCAGTAGCATTCCAACTTAGCCCGCAGGTAGCCTCAGGAAGAGAGCGGTTGGGGTGGATGTAGAGGGAGGCACTGTCCTCTGTCCTCTTAGCCATGGCATCCCCCCGGCCCATCTTCCTCTCCCAGGGACAGACGCCCCAGCTGTGGTCAACTGTCTTCACATCCTGGCCCGCTCCCTGGATGCCAGGTAGGGCCATAGGCAGTGGCGCCCACTCCCACCATCATCGGGCCCCCACCCCAACCCCTGGTCTCCTAGACTCTCCGATTCCAGAGCTGATGTTCCCCCGCTGCCCTTCTAGGACAGTGATGAAGTCAGGCCCTGAGATCGTGAAGGCTGGCCTCCGCTCCTTCTTCGAGAGTGCCTCGGAGGACATCGAGAAGATGGTGGAGAACCTGCGGCTGGGCAAGGTGTCGCAGGCGCGCACCCAGGTGAAAGGCGTGGGCCAGAACCTCACCTACACCACTGTGGCACTGCTGCCGGTCCTCACCACCCTCTTCCAGCACATCGCCCAGCACCAGTTCGGAGATGACGTCATCCGTAAGGGCGCCTGACCCAAGGGCAGGTTGCGGGGAGTCAGTGTGGCCAACACCACCCATCCGGGTGCCTGTGAGAGTCCCTGGGTGTTTGAATGTGTGGATTTCTTGCTGTAAGCAAAGCATGCAGTCAGTACCTTGGCAGGTGGCAAATGAGTTAATGAGGACGCGAGCTCAGCAGCTCTAACAAAAGACCCTAAGTGGACTGGCGCAGTGACTCACACCTGTAATTCCAGCACTTTGGGAGGCTGAGGCAGGAGGACCGCTTGAGCTC 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GGCCCTGAGAGGTCCCTGGTGTGAGTGTCAGGATGCCCTGTAGCTGAAGCAGAGTCATCGAGGGGGACGGTGAGATAAACGAGGTCACAGAGGTGACTGGGGCAGATCATGCAGGGCTTTGCAAGCTGTGATGAGGACTTTGACCTTACCTGGAATGAGATGGAGTTGGGGGTTGGGGGCTGAGCCGAGGAGGGACGTGATCCATAATTCTGGTGTTCACAGGGTCCCTCTGGCTTGACTGGGGTGGGGACAGGAGCCGAAAAGGGTGAGAACTGGGCAGATTTCTGGATCTATTTTGAAGGCTGAGGCTGCTGGGGTGCCCCCCAGTGCCTCTTACAGGCCACTAAGAATTACAGCTAGGCCCTACAATCCCCTCCAGTTTCCCTTAGAGACCCCCCCCAGCATTCCCCTTGAGAGCTACCCTCAGGAACCCCCAAATTCCCTCCAGGTGAGTGGCAGAGCAGGATTCGCTGTCACGTCTCACCTCAAAGCCTGCCTGCTGAGCTTCAGTGCTGCACATCCCCCTGACAATTCCCTTCCCTCTCTAGACCTCAGTTTCCTCACCTGTGATATGGGCATATGTTCACCATAACTAGCCATGGTTCTGTTACTTACTGGGTGACCTGGGGTTAGTTACTTCACCTGAGTTTCCTCATCTGAAAAATGGGGGTTGGGAACCAACTGCACAGACCTCCAAGTTGTAAGGAGACTGTGTGAGGATGACATGTCTCACAGTGCCAAGGACATAGCAAGTGTTTAATAATTGGAGCCAGTATTATTATTATTATTATTATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGTTGGACTGCAGTGGCGCGATCTCAGCTCACTGCAGGCTCCGCCTCCAGATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCGGTTAATTTTTTGTGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCAGTATTATTATTTTAATAGTATCAGTTATGACTGTCACCATTATTATTGTTTGAAATTTATTTCCATTTTGAAATTAACTCTAATTTGTTTACATTGACTTCTTGTTTCATTTGGTTCATTCATTCATTTATTGCAGATTAACTCAGTGCCATGTATTCAAGTTTAGAATGAAAAGCACTTATGGTGGGTGAGGAAGGGCATGTTCCATGACCTTAACCCATTCCAGTTTGTTTTCCCCATTGTCAGCTTCAGAAAGGGTTTGATCAAGGAGTTGTCAGCTTCAAGAAGGATTTGATCAAGAAGTTGGGGGAAAGCACATTGGGAGGTTGAGGCGGGTGGATCACCTGAGGTCAGAAGTTTGAGACCAGCCTGGACAACATGGTGAAACCTTGGCTGTACTAAAAATACAAAAATTAGCTTGGTGTGTGGGAGCATGTCTGTAATCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACTCAGGAGGCAGAGAGTGCAGTGAGCCGAGATCGTGCCATTGCACTCCTGTCTGGGTGACAAGAAAAAAAAAAGGAGTTGGGGGAATCAGATGAAAGATAGGAGAAAGGTTTATCTCAAAGCCAACACAAATGACTTCATACCAATACTTTATCCCCCATCATTTCCCAACTCTGCTCCCAGCATCCTTCCCATCAGAACACCCTGGGTTCCCCAGCCTTGAACCCACTGTGAACCCTATTTGCCCTCCCTACAGAGGCTGTGGTCAGCAGTGGGCGAGTGGAAAAGTCCCCACATGAACAGGAGATTAAATTCTTTGCCAAGGTGAGAGGTGGGCTTAGAAGCTGGAGGGCGCTGGGGACTCATAGGCTCTCCCCACCCCTCATTGGACCCTTTATCTCCCCCAACCCGTCTCCAGATCCTGCTCCCTTTGATCAACCAGTACTTCACCAACCACTGCCTCTGTTTCTTGTCCACTCCGGCTAAAGTGCTGGGCAGCGGTGGCCACGCCTCTAACAAGGAGAAGGAAATGATCACCAGGTGGGCCGCCTGTGACCCTGGACCCAGCCCCCTGACCTCACAGGATTGTAATCCTTTGCCCATGGAGGCTCTGTCCTGGGTGCTGGGTGTTGGGTACTGACCGTCTCCTGCAAAGGCGATTGAAGGGTGACCAGCCATCCTAGTGTACCCGGGACTGAAGGGTTTCCCAGGATGTGGGACTCTCAGGCAACTTGGGACAAATCGATCACCCTGTCCAGGAAGGCCAACTCAAGGCCGGGCGTGGTGGCTCATGCCTGTAATTCCAACACTTTGGGAAGCTGAGGTGGGAAGATCACTTGAAGCCAGGAGTTTGAGGCCAGCCTGGGCAACATACTGAGACCCCATTTCTACAAAAAATACAAAAATTAGCCGGGCTTGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCGGGAGGATCACTTGAACCCAGGAGTTGGAGGCTGCAGGGAGCTGGGATCGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTAAAAAAAATAAACAAACAAAGAATAATAAGAAAGGCTGACTCACCCCTCACCTCCCCAGCATCCCAGTTACTGCCTGTGACATTCCAGCTTGCCCATCTCTCTGCCCCTTCCCATCCCTCCTGTCTCCATCATTTGGACCCCCTCCTGGTTCCTCTCTCCTTGTCTTCTCTGTCCCTGTCTCCTCTAATTGGGTCACGCTGTCCTCGTCTCCTTGGCCTCCTCACTCGCTGTTTCTCCTGCCTTCTGTCCCTTTCTCTTTCTTCAGCCTCTTCTGCAAACTTGCTGCTCTCGTCCGCCACCGAGTCTCTCTCTTTGGTAAGTGGCTCCACACCTTCGGTCTTCCTCCCTAATCTTTCTCTTCCCCACCCTGAAGAAATAGCTCCCAGGTTCTGCCTTAATTTGAACAACCTTTGTTGTTTTCTTCCCCTGGACCTGGAGACATGGACCAGGTATCCGGGGGGTAGGGCAGTGACTGAGATGCCCTGGGCCTGCCCTCAATGGAGCTCCCAGGCCAGTGGGAGAGACAGACCTATCTCCAGACAAGGACAGCCCAGTGGGGTCAGGGCTGGGCAGGAGGAAGGCCAGGAGAGTGGTTGGGCTGGGGAGGAGGGACATTTGGAGGCGCTGTAGGAGTCTGGGGGGGTGGGGGTGCAGTAGCATTCCAACTTAGCCCGCAGGTAGCCTCAGGAAGAGAGCGGTTGGGGTGGATGTAGAGGGAGGCACTGTCCTCTGTCCTCTTAGCCATGGCATCCCCCCGGCCCATCTTCCTCTCCCAGGGACAGACGCCCCAGCTGTGGTCAACTGTCTTCACATCCTGGCCCGCTCCCTGGATGCCAGGTAGGGCCATAGGCAGTGGCGCCCACTCCCACCATCATCGGGCCCCCACCCCAACCCCTGGTCTCCTAGACTCTCCGATTCCAGAGCTGATGTTCCCCCGCTGCCCTTCTAGGACAGTGATGAAGTCAGGCCCTGAGATCGTGAAGGCTGGCCTCCGCTCCTTCTTCGAGAGTGCCTCGGAGGACATCGAGAAGATGGTGGAGAACCTGCGGCTGGGCAAGGTGTCGCAGGCGCGCACCCAGGTGAAAGGCGTGGGCCAGAACCTCACCTACACCACTGTGGCACTGCTGCCGGTCCTCACCACCCTCTTCCAGCACATCGCCCAGCACCAGTTCGGAGATGACGTCATCCGTAAGGGCGCCTGACCCAAGGGCAGGTTGCGGGGAGTCAGTGTGGCCAACACCACCCATCCGGGTGCCTGTGAGAGTCCCTGGGTGTTTGAATGTGTGGATTTCTTGCTGTAAGCAAAGCATGCAGTCAGTACCTTGGCAGGTGGCAAATGAGTTAATGAGGACGCGAGCTCAGCAGCTCTAACAAAAGACCCTAAGTGGACTGGCGCAGTGACTCACACCTGTAATTCCAGCACTTTGGGAGGCTGAGGCAGGAGGACCGCTTGAGCTC 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Task1_train_27094 | Here’s a variant in RYR1 (ryanodine receptor 1) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Malignant hyperthermia, susceptibility to, 1 | TCAGGAATTTGAGACCAGCCTAGGCAACATGGCTAGACCCTGTCTCTACAAAAAAAGAAAAGAAATACAAAAATTAGTCAGGCATGGTGACACACACCTGTAGTCCTTGCCTCAGGCTGGGACTGGGAGGCTGAGGTGGGAGGATCGTTTGAGCCCAGGAGGTCAAAGCTGCAGTGAGCTATGATCACACCGCTGCACTCCAACCTGGGCAACAGAGATAGACCCTGTCTCAATAAGGTTTGTTTTTTTTTAATACAAGTAAATGAATAAAATAAAATATGTGAACCTACTTAGATTCTGACCCTGTCTCAAAAAAAAAAGAAATTTTATGCTGGGTGCAGTGGCTCGTGACTGTAATCCCAGCACTTTGGGTGGCCAAAGAGAGTGGATCACTCAAACTCAGTCTCAAACTCAGAAGTTTGAGACCAGCCTGGGCAACATGCAAAAACCCTGTCTCTACTGAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATACCTGTAGTCCCAGCTAAGTACTCCTGAGTGGGAGGCTGAGGCAGGAGAATCACTTGGAACCTGGGAGGCAGAAGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTCAAAAAAGAAAAAAAGAAAATTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCCCAGGCTGGGGTGCAGTGGTGCGATCTCTGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGCCTGCCACCACACCCGGCTAATTTTTTTGTATTTTTTAGTAGAGATGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCTGAAAGAAAAAATTTTAAAAAGTTTTTAGCCTAGAAGTTAGAATATGGATGATTTTTCAGGAGGAGGAAGGGGGAGTGGCTGGGAGGGGCCATGATAGTACTTCCAGGGACCAGAAATGTCCTATTTCTTGACTTCGGTGCTGGCTACACAAGTGTGTTCATTTGTGATAATTCACCAGGTTGATATTTCTTAATATGTAGGTTATATAATACATATGTATGTATCATGTGTGTCTATGTATTGCATGCATGTATTATATTTATGTATTTCGATGAAAAGGTTAGACAAAGTTTTTTAAAAAAGGAATAGTCAGGCCAGGGAAGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGTCAGGGAAAGAGGATCTCTTGAGCCCAGGAGTTCAAGACCAGCCTGGACAACCTAGGGAGACCCTCTTCCTACAAAAAATAAAATAAAACATTAGCCAGGCCTGGGCATGGTGACGTGCACCTGTAGTCCCAGCTACTCAGGGAGGCTGAAGTGGGAGGATCACTTAAGCCTGGGAGGTTGAGGTTGCAGTGAGTGGAGATCGCATCACTGTACTCCAGCCTGACAGATTGAGACCCTGTCTCAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAATGGATCGTTAAAAAATTTTAAATGTTCAGCTGGGCACAGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGTAAGGTCAAGAGTTCAAGACCAGCGTGCCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCCGGTGTGGTGTCGGGCCCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAGAGAAAAAAAATTTTTTTAATGTTCATCTGCATGGCCAGATGACCCTAGAAACCCCATCCCTCTGACTGGATGTCTCCTGGTCCCCATCTCCTCCTCCAAGATCTCTCTCTGGGCAGCCCCCTTCCCTGGGATCCCCACCCCCTCCCTCACCTCCCCTCCGCTGACCCCAGGGCGCAGTGGCTGACGGAGCCGAATCCCAGCGCGGAGGAGCTGTTCAGGATGGTGGGCGAGATCTTCATCTACTGGTCCAAGTCCCACGTGAGTGCCCACCCCAACCGCCCTCCCCACAACCAGAGGAGCCGCAGCCCACAGGCGCCTGCCTTCACCTGTCCGGTCTGCAACACTGCTTCCCCCACCAGAACTTCAAGCGCGAGGAGCAGAACTTTGTGGTCCAGAATGAGATCAACAACATGTCCTTCCTGACTGCTGACAACAAAAGCAAAATGGCTAAGGTCGGGGCTTGGTTCTGGGAGGAGCACTTGGCAGAGAGGGCGGGAGCACCCTCTAGGACTTCCTACCTGGCCTGTCCTCACCCAGCCAGCCCGTCCTGGGCGCAATCCCTGCAGTCCTCAGAGCAGCCCCTCTTACCTCCTCTCCCTCTCCCTTCCTCCCCAGCTCCTTCCTCCTCCTGTATCTTCTCCCTCCTCCCATCTCCCTCCTCCTCTCCATCTCCCTCTTCTCTCATCTCTGTCTCCTTCCTCCTCCTGTATCTTCTCCCTCCTCCCATTTCCCTCCTCTCCATTTTCCTCTTCTCCAAGCCTCTCTCTCCTCCCATTTCCCTCCTCCTCCTCCTCCCCATTTTCCCCCTCTTCCATTTCTTTCTTCCTCTCCCCATTACCCCATTTCCTGCTTTCCTCCCTATCCTTCTCAGCACTGCCCTTCTCAGGTCTCAGAGAACGACCCCCCACCCCGAGCCAAGGCCTGGAAATGCCCAGCTAGAGAATACATGGCGGGTGGGGCAGAGGAGGTGGGGTGCTGGCAACTTGGAGTTGGGCCTGGGCTTCTCTGCGGGGCTGGGGTAACCCTTCTTGTCTCTGTCTGCGGTCCGGTGAAGCAGGCGGGAGATATACAGGTCAGCCCCACATCTGGGACCTTCCGCATGTCTCTTGGCTAATGCCCTCTTCCCCCAGCCTCTGCACGCCCCCGCCTCGAGAAAACCCCTGCTTCTGTTCCCCACCCCCGTCCTCCCCTCCCAGCCCCCACCCATCCTCCTTCCCTTCCCTTCCCTCCCCACCACCCCCATCCGTTCCCATCCCAACCCTCAGCTTTTGGCAATTTGACTTCTTTTCTTTTTCTTCTTTCCTTTTTTTTTTCTGGACTTTTGTTCCCAAAAAAAAAAAAAAAAAGAAAAAAAGAGCAACTCTCAGCTTTTACCAAAGCATCGTGGGCTGAGGTCAAGGGTAATGGGGGTGGGAGAGGCACACGGAGCATGGTTGGGGAGGGGGCAGCACCCTCGCCGTGGATGGTTTAAAGCTTGGGCTCTGGACTGTATGGACTGGGGTTAGAATCCTGTCTTGATAGTTAGCCGTGTGACCTTGGTTGGGGTCATCCTTTTGAGCCTCTGAGGGCATCCAGCCAGCAGCCCCCACCCCAGGGCTCTGCGAGGACTCAGGGAGAAGCTGCATGTGTGGCCTGCAGCAGTGCCTGGCACAGGGGTCATGCTCAAAGTTGCCAGCCGGCGTGGATGTGGCTCTGCCCAAAAGCTTGTCATCAGGGCTTCTCGCTGGCGTGACTGGGGTGGCCCTGGCCCCGGGTCTGCACCCAAGGCTCCAGAACACGGCTGTGGGACTCTGTGCCCTGTGTCTCTGCTTCCAGATCTTTCTGGATGTCTCTTGCATCTTTGGTCTTCCTGTCTCCTTGTCTTTTTCAGTCTCTCAGTGTCTTTTTCTTGCAACTTCTCTTGTCGCTTGAACTCTTTGTGGACCTGCATCTTTGTTTCATTCTTGAGAACTTGGTTTTGGGATGTGAAGTGTGGGGTTGTGCATGCTGTGGAGGGGGTATTGTACTGGGGTTCCTAGGGGATTCTGGAAGAGGACTGCTAGAAGTTGAGACAGGCCCAGAACGGGGGAAAATCTGGATGGGCCTGGGTTAGAAATTGGAGCCAGGCAAGCATGGTGGTATGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTTGAAGCCAAGAGTTCAAGTCCAGCCTGGGCAACATGGCAAGACACCATCTCTAAAAATAAATTTGTTTAAAAAACAAGAAACTGGGAATTTGGGTTGTGGACTTGGGTCTGGAGGGTCTCCGGTCATGGCTGT 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TCAGGAATTTGAGACCAGCCTAGGCAACATGGCTAGACCCTGTCTCTACAAAAAAAGAAAAGAAATACAAAAATTAGTCAGGCATGGTGACACACACCTGTAGTCCTTGCCTCAGGCTGGGACTGGGAGGCTGAGGTGGGAGGATCGTTTGAGCCCAGGAGGTCAAAGCTGCAGTGAGCTATGATCACACCGCTGCACTCCAACCTGGGCAACAGAGATAGACCCTGTCTCAATAAGGTTTGTTTTTTTTTAATACAAGTAAATGAATAAAATAAAATATGTGAACCTACTTAGATTCTGACCCTGTCTCAAAAAAAAAAGAAATTTTATGCTGGGTGCAGTGGCTCGTGACTGTAATCCCAGCACTTTGGGTGGCCAAAGAGAGTGGATCACTCAAACTCAGTCTCAAACTCAGAAGTTTGAGACCAGCCTGGGCAACATGCAAAAACCCTGTCTCTACTGAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATACCTGTAGTCCCAGCTAAGTACTCCTGAGTGGGAGGCTGAGGCAGGAGAATCACTTGGAACCTGGGAGGCAGAAGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTCAAAAAAGAAAAAAAGAAAATTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCCCAGGCTGGGGTGCAGTGGTGCGATCTCTGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGCCTGCCACCACACCCGGCTAATTTTTTTGTATTTTTTAGTAGAGATGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCTGAAAGAAAAAATTTTAAAAAGTTTTTAGCCTAGAAGTTAGAATATGGATGATTTTTCAGGAGGAGGAAGGGGGAGTGGCTGGGAGGGGCCATGATAGTACTTCCAGGGACCAGAAATGTCCTATTTCTTGACTTCGGTGCTGGCTACACAAGTGTGTTCATTTGTGATAATTCACCAGGTTGATATTTCTTAATATGTAGGTTATATAATACATATGTATGTATCATGTGTGTCTATGTATTGCATGCATGTATTATATTTATGTATTTCGATGAAAAGGTTAGACAAAGTTTTTTAAAAAAGGAATAGTCAGGCCAGGGAAGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGTCAGGGAAAGAGGATCTCTTGAGCCCAGGAGTTCAAGACCAGCCTGGACAACCTAGGGAGACCCTCTTCCTACAAAAAATAAAATAAAACATTAGCCAGGCCTGGGCATGGTGACGTGCACCTGTAGTCCCAGCTACTCAGGGAGGCTGAAGTGGGAGGATCACTTAAGCCTGGGAGGTTGAGGTTGCAGTGAGTGGAGATCGCATCACTGTACTCCAGCCTGACAGATTGAGACCCTGTCTCAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAATGGATCGTTAAAAAATTTTAAATGTTCAGCTGGGCACAGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGTAAGGTCAAGAGTTCAAGACCAGCGTGCCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCCGGTGTGGTGTCGGGCCCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAGAGAAAAAAAATTTTTTTAATGTTCATCTGCATGGCCAGATGACCCTAGAAACCCCATCCCTCTGACTGGATGTCTCCTGGTCCCCATCTCCTCCTCCAAGATCTCTCTCTGGGCAGCCCCCTTCCCTGGGATCCCCACCCCCTCCCTCACCTCCCCTCCGCTGACCCCAGGGCGCAGTGGCTGACGGAGCCGAATCCCAGCGCGGAGGAGCTGTTCAGGATGGTGGGCGAGATCTTCATCTACTGGTCCAAGTTCCACGTGAGTGCCCACCCCAACCGCCCTCCCCACAACCAGAGGAGCCGCAGCCCACAGGCGCCTGCCTTCACCTGTCCGGTCTGCAACACTGCTTCCCCCACCAGAACTTCAAGCGCGAGGAGCAGAACTTTGTGGTCCAGAATGAGATCAACAACATGTCCTTCCTGACTGCTGACAACAAAAGCAAAATGGCTAAGGTCGGGGCTTGGTTCTGGGAGGAGCACTTGGCAGAGAGGGCGGGAGCACCCTCTAGGACTTCCTACCTGGCCTGTCCTCACCCAGCCAGCCCGTCCTGGGCGCAATCCCTGCAGTCCTCAGAGCAGCCCCTCTTACCTCCTCTCCCTCTCCCTTCCTCCCCAGCTCCTTCCTCCTCCTGTATCTTCTCCCTCCTCCCATCTCCCTCCTCCTCTCCATCTCCCTCTTCTCTCATCTCTGTCTCCTTCCTCCTCCTGTATCTTCTCCCTCCTCCCATTTCCCTCCTCTCCATTTTCCTCTTCTCCAAGCCTCTCTCTCCTCCCATTTCCCTCCTCCTCCTCCTCCCCATTTTCCCCCTCTTCCATTTCTTTCTTCCTCTCCCCATTACCCCATTTCCTGCTTTCCTCCCTATCCTTCTCAGCACTGCCCTTCTCAGGTCTCAGAGAACGACCCCCCACCCCGAGCCAAGGCCTGGAAATGCCCAGCTAGAGAATACATGGCGGGTGGGGCAGAGGAGGTGGGGTGCTGGCAACTTGGAGTTGGGCCTGGGCTTCTCTGCGGGGCTGGGGTAACCCTTCTTGTCTCTGTCTGCGGTCCGGTGAAGCAGGCGGGAGATATACAGGTCAGCCCCACATCTGGGACCTTCCGCATGTCTCTTGGCTAATGCCCTCTTCCCCCAGCCTCTGCACGCCCCCGCCTCGAGAAAACCCCTGCTTCTGTTCCCCACCCCCGTCCTCCCCTCCCAGCCCCCACCCATCCTCCTTCCCTTCCCTTCCCTCCCCACCACCCCCATCCGTTCCCATCCCAACCCTCAGCTTTTGGCAATTTGACTTCTTTTCTTTTTCTTCTTTCCTTTTTTTTTTCTGGACTTTTGTTCCCAAAAAAAAAAAAAAAAAGAAAAAAAGAGCAACTCTCAGCTTTTACCAAAGCATCGTGGGCTGAGGTCAAGGGTAATGGGGGTGGGAGAGGCACACGGAGCATGGTTGGGGAGGGGGCAGCACCCTCGCCGTGGATGGTTTAAAGCTTGGGCTCTGGACTGTATGGACTGGGGTTAGAATCCTGTCTTGATAGTTAGCCGTGTGACCTTGGTTGGGGTCATCCTTTTGAGCCTCTGAGGGCATCCAGCCAGCAGCCCCCACCCCAGGGCTCTGCGAGGACTCAGGGAGAAGCTGCATGTGTGGCCTGCAGCAGTGCCTGGCACAGGGGTCATGCTCAAAGTTGCCAGCCGGCGTGGATGTGGCTCTGCCCAAAAGCTTGTCATCAGGGCTTCTCGCTGGCGTGACTGGGGTGGCCCTGGCCCCGGGTCTGCACCCAAGGCTCCAGAACACGGCTGTGGGACTCTGTGCCCTGTGTCTCTGCTTCCAGATCTTTCTGGATGTCTCTTGCATCTTTGGTCTTCCTGTCTCCTTGTCTTTTTCAGTCTCTCAGTGTCTTTTTCTTGCAACTTCTCTTGTCGCTTGAACTCTTTGTGGACCTGCATCTTTGTTTCATTCTTGAGAACTTGGTTTTGGGATGTGAAGTGTGGGGTTGTGCATGCTGTGGAGGGGGTATTGTACTGGGGTTCCTAGGGGATTCTGGAAGAGGACTGCTAGAAGTTGAGACAGGCCCAGAACGGGGGAAAATCTGGATGGGCCTGGGTTAGAAATTGGAGCCAGGCAAGCATGGTGGTATGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTTGAAGCCAAGAGTTCAAGTCCAGCCTGGGCAACATGGCAAGACACCATCTCTAAAAATAAATTTGTTTAAAAAACAAGAAACTGGGAATTTGGGTTGTGGACTTGGGTCTGGAGGGTCTCCGGTCATGGCTGT 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Task1_train_27095 | Here is a genetic alteration in RYR1 (ryanodine receptor 1) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Congenital multicore myopathy with external ophthalmoplegia | GGGCGCAATCCCTGCAGTCCTCAGAGCAGCCCCTCTTACCTCCTCTCCCTCTCCCTTCCTCCCCAGCTCCTTCCTCCTCCTGTATCTTCTCCCTCCTCCCATCTCCCTCCTCCTCTCCATCTCCCTCTTCTCTCATCTCTGTCTCCTTCCTCCTCCTGTATCTTCTCCCTCCTCCCATTTCCCTCCTCTCCATTTTCCTCTTCTCCAAGCCTCTCTCTCCTCCCATTTCCCTCCTCCTCCTCCTCCCCATTTTCCCCCTCTTCCATTTCTTTCTTCCTCTCCCCATTACCCCATTTCCTGCTTTCCTCCCTATCCTTCTCAGCACTGCCCTTCTCAGGTCTCAGAGAACGACCCCCCACCCCGAGCCAAGGCCTGGAAATGCCCAGCTAGAGAATACATGGCGGGTGGGGCAGAGGAGGTGGGGTGCTGGCAACTTGGAGTTGGGCCTGGGCTTCTCTGCGGGGCTGGGGTAACCCTTCTTGTCTCTGTCTGCGGTCCGGTGAAGCAGGCGGGAGATATACAGGTCAGCCCCACATCTGGGACCTTCCGCATGTCTCTTGGCTAATGCCCTCTTCCCCCAGCCTCTGCACGCCCCCGCCTCGAGAAAACCCCTGCTTCTGTTCCCCACCCCCGTCCTCCCCTCCCAGCCCCCACCCATCCTCCTTCCCTTCCCTTCCCTCCCCACCACCCCCATCCGTTCCCATCCCAACCCTCAGCTTTTGGCAATTTGACTTCTTTTCTTTTTCTTCTTTCCTTTTTTTTTTCTGGACTTTTGTTCCCAAAAAAAAAAAAAAAAAGAAAAAAAGAGCAACTCTCAGCTTTTACCAAAGCATCGTGGGCTGAGGTCAAGGGTAATGGGGGTGGGAGAGGCACACGGAGCATGGTTGGGGAGGGGGCAGCACCCTCGCCGTGGATGGTTTAAAGCTTGGGCTCTGGACTGTATGGACTGGGGTTAGAATCCTGTCTTGATAGTTAGCCGTGTGACCTTGGTTGGGGTCATCCTTTTGAGCCTCTGAGGGCATCCAGCCAGCAGCCCCCACCCCAGGGCTCTGCGAGGACTCAGGGAGAAGCTGCATGTGTGGCCTGCAGCAGTGCCTGGCACAGGGGTCATGCTCAAAGTTGCCAGCCGGCGTGGATGTGGCTCTGCCCAAAAGCTTGTCATCAGGGCTTCTCGCTGGCGTGACTGGGGTGGCCCTGGCCCCGGGTCTGCACCCAAGGCTCCAGAACACGGCTGTGGGACTCTGTGCCCTGTGTCTCTGCTTCCAGATCTTTCTGGATGTCTCTTGCATCTTTGGTCTTCCTGTCTCCTTGTCTTTTTCAGTCTCTCAGTGTCTTTTTCTTGCAACTTCTCTTGTCGCTTGAACTCTTTGTGGACCTGCATCTTTGTTTCATTCTTGAGAACTTGGTTTTGGGATGTGAAGTGTGGGGTTGTGCATGCTGTGGAGGGGGTATTGTACTGGGGTTCCTAGGGGATTCTGGAAGAGGACTGCTAGAAGTTGAGACAGGCCCAGAACGGGGGAAAATCTGGATGGGCCTGGGTTAGAAATTGGAGCCAGGCAAGCATGGTGGTATGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTTGAAGCCAAGAGTTCAAGTCCAGCCTGGGCAACATGGCAAGACACCATCTCTAAAAATAAATTTGTTTAAAAAACAAGAAACTGGGAATTTGGGTTGTGGACTTGGGTCTGGAGGGTCTCCGGTCATGGCTGTGGGCCTGAAGTGTAGAGTCAGCAAGTCTGGGGTGGAAATTGAGGTGTCGTCGGCAGTTGGGGAGGGAGTGCCTGGTGTCCAGACTGGGGCCTGGGGTGTGGATGATGGCCGCGGGTTGGGGCTGAGGCATGGGATTGGGGCTTGGGCTGGTGCTGAGCCCTGTGTCCCCACAGTCCGGTGGCTCGGACCAGGAACGCACCAAGAAGAAGCGCCGGGGGGACCGGTACTCTGTGCAGACGTCACTGATCGTGGCCACACTGAAGAAGATGCTGCCCATCGGCCTGAATATGTGTGCGCCCACCGACCAAGACCTCATCACGCTGGCCAAGACCCGTTACGCCCTGGTGCCTGCCCAGCCCCGTCCTCGGAACCTTCCAGGATGCCGCCCAGCACCCACTGAACCCCTGGGACCTTAGGGAACAACCACAATGCCACTGAGCCCCCCAGGTCCCTGGGAGCCTTCCCTTCAGACCCCACTGAGTTCTTTTCCGGGATGCTGAGGACTCACTGTGCCCCTGGGATGCCCTGAGGACCCCGTTCAAGATATTGCCAGGGCACCACAGACCTAAGAGCCCTCACTGAAACCTAGAAAAGCTCTAGGACCCCTGGGACCCGCATGAGGACTGCAGGACCCCACTGCCCCCCCACCGGACCATGCCAAACCTGCTGAGACCCTGAGAGTCCCCCCAACAAGATGAGCCCCTGAGATCCTCTGAACCCTCCACCAAGGCCCCTTCAAGCCCCTTGGGACCTACTGAGACCCTCATGACCCCTCCTTCCCTCCCTGCCAAGACTGAACCTCTGGGTTCCTGCTGAGCCCTTGGCTCACCATCCCTTTCCTTCAGGACCCTGCTGACACCTGGGCCCTGTTGAAGCCCAACTAAGCCCCCAAGACTCTCAGGGGCTCAGGGAGCCCTGCGACCCTGCATAACTCCCCAGGATCCATGAACCCCAAGCCCGGGACTGTACCCAAACCTCTGAGGTCTCAACTGTCCTGGAGACCAAAATACCCGGGCTGTAGAACCTCTTAAGCTTGCTGGGATATCAAGGAGGCCTCCCGGGACCCCACTTACCCCTTGTGTGGGACAACAAGGACAATCTCCCTCCTCTCCGATCCTTTCCAGCTTCAGGGACTCTAAGGAACCCTCCCAGGATTCTGCCCCAAGACCCCTATAGCCCTCCCCCCAGGACCACACCAACACCCTGACAACCTACTAACCCCCTGGACCCCTAAAGACCACCGACTTCTCCCCTGCTACCACCAGGACACCCCTTCCCTCAGAACCTCAGGCACCTCCCAGGACTGCTGAGTCCTGCCAGGACGCCAGAGAGCCCTCCAGGGCTCCATGGACCCCTCACCTTGGTCCTTGAGGGCTCCCCGTCCTAGAACCCCAGTGAACCCCCACCCTGCTGATGCCCCCTTTGGCCCCTGTGTAACCAGTGACTCCGTTGACCTACGTGATCCCCCATGACCTCTGCTGACCCCTTCTGATCTTCAAAGACTCCCTGCCCCACTCTGACCCCCCAGTCATCCCTCTTTGGCCATATTTGACCTTTGATGAGATCCTCTTGTCACCCTTTGCCTCTTCCCAGACCTCCACGAGGCCCCTCGAATCCTTACTGTATCTTCAAGGTGACTCTGTGACCCTCCGGCCCCTCTAGGACCCCTTCTGACCCCGTCAACCTCTGCATCCTTTTGTTTCTCTCAGACCCCCACCCCCACCCCAGAAAAACCTCTTCAGTTCCTGGGGTGCTGGGCCTGGAAGGAAAGGGTTGTGGGTCAGGAAGGAGGATGGGACCTCCAGAGTGACCCAGCCTGGCTCTGTCTCCCCAGAAAGACACAGATGAGGAGGTCCGGGAATTTCTGCACAACAACCTTCACCTTCAGGGAAAGGTATGCCTCCTTCCTCTGCAAGCAAAAGAAGCAAGTCAGAAAGTAACCACAATATTAGTGAAGGTTTGAGCATTTACCAAAGACCAGGCATTGAAGAAAGACCTCAAAGGTCAGGAGTTTGAGACCAGCCTGGCCAATGTGGCGAAACCATGTTTCTACTAAAAATACAACAATTAGGCCGGGCACAATGGCTCATGCCTGTAATCCCAACACTTTGGAAGGCCAAGGCGGGCAGATCACCTGAGGTTAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAGTACAAAATTAGCTGGGTGTGATGGCGGGTGCCTGTAGTCCCGGCTACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGATGGGGCGAGGCT 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GGGCGCAATCCCTGCAGTCCTCAGAGCAGCCCCTCTTACCTCCTCTCCCTCTCCCTTCCTCCCCAGCTCCTTCCTCCTCCTGTATCTTCTCCCTCCTCCCATCTCCCTCCTCCTCTCCATCTCCCTCTTCTCTCATCTCTGTCTCCTTCCTCCTCCTGTATCTTCTCCCTCCTCCCATTTCCCTCCTCTCCATTTTCCTCTTCTCCAAGCCTCTCTCTCCTCCCATTTCCCTCCTCCTCCTCCTCCCCATTTTCCCCCTCTTCCATTTCTTTCTTCCTCTCCCCATTACCCCATTTCCTGCTTTCCTCCCTATCCTTCTCAGCACTGCCCTTCTCAGGTCTCAGAGAACGACCCCCCACCCCGAGCCAAGGCCTGGAAATGCCCAGCTAGAGAATACATGGCGGGTGGGGCAGAGGAGGTGGGGTGCTGGCAACTTGGAGTTGGGCCTGGGCTTCTCTGCGGGGCTGGGGTAACCCTTCTTGTCTCTGTCTGCGGTCCGGTGAAGCAGGCGGGAGATATACAGGTCAGCCCCACATCTGGGACCTTCCGCATGTCTCTTGGCTAATGCCCTCTTCCCCCAGCCTCTGCACGCCCCCGCCTCGAGAAAACCCCTGCTTCTGTTCCCCACCCCCGTCCTCCCCTCCCAGCCCCCACCCATCCTCCTTCCCTTCCCTTCCCTCCCCACCACCCCCATCCGTTCCCATCCCAACCCTCAGCTTTTGGCAATTTGACTTCTTTTCTTTTTCTTCTTTCCTTTTTTTTTTCTGGACTTTTGTTCCCAAAAAAAAAAAAAAAAAGAAAAAAAGAGCAACTCTCAGCTTTTACCAAAGCATCGTGGGCTGAGGTCAAGGGTAATGGGGGTGGGAGAGGCACACGGAGCATGGTTGGGGAGGGGGCAGCACCCTCGCCGTGGATGGTTTAAAGCTTGGGCTCTGGACTGTATGGACTGGGGTTAGAATCCTGTCTTGATAGTTAGCCGTGTGACCTTGGTTGGGGTCATCCTTTTGAGCCTCTGAGGGCATCCAGCCAGCAGCCCCCACCCCAGGGCTCTGCGAGGACTCAGGGAGAAGCTGCATGTGTGGCCTGCAGCAGTGCCTGGCACAGGGGTCATGCTCAAAGTTGCCAGCCGGCGTGGATGTGGCTCTGCCCAAAAGCTTGTCATCAGGGCTTCTCGCTGGCGTGACTGGGGTGGCCCTGGCCCCGGGTCTGCACCCAAGGCTCCAGAACACGGCTGTGGGACTCTGTGCCCTGTGTCTCTGCTTCCAGATCTTTCTGGATGTCTCTTGCATCTTTGGTCTTCCTGTCTCCTTGTCTTTTTCAGTCTCTCAGTGTCTTTTTCTTGCAACTTCTCTTGTCGCTTGAACTCTTTGTGGACCTGCATCTTTGTTTCATTCTTGAGAACTTGGTTTTGGGATGTGAAGTGTGGGGTTGTGCATGCTGTGGAGGGGGTATTGTACTGGGGTTCCTAGGGGATTCTGGAAGAGGACTGCTAGAAGTTGAGACAGGCCCAGAACGGGGGAAAATCTGGATGGGCCTGGGTTAGAAATTGGAGCCAGGCAAGCATGGTGGTATGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTTGAAGCCAAGAGTTCAAGTCCAGCCTGGGCAACATGGCAAGACACCATCTCTAAAAATAAATTTGTTTAAAAAACAAGAAACTGGGAATTTGGGTTGTGGACTTGGGTCTGGAGGGTCTCCGGTCATGGCTGTGGGCCTGAAGTGTAGAGTCAGCAAGTCTGGGGTGGAAATTGAGGTGTCGTCGGCAGTTGGGGAGGGAGTGCCTGGTGTCCAGACTGGGGCCTGGGGTGTGGATGATGGCCGCGGGTTGGGGCTGAGGCATGGGATTGGGGCTTGGGCTGGTGCTGAGCCCTGTGTCCCCACAGTCCGGTGGCTCGGACCAGGAACGCACCAAGAAGAAGCGCCGGGGGGACCGGTACTCTGTGCAGACGTCACTGATCGTGGCCACACTGAAGAAGATGCTGCCCATCGGCCTGAATATGTGTGCGTCCACCGACCAAGACCTCATCACGCTGGCCAAGACCCGTTACGCCCTGGTGCCTGCCCAGCCCCGTCCTCGGAACCTTCCAGGATGCCGCCCAGCACCCACTGAACCCCTGGGACCTTAGGGAACAACCACAATGCCACTGAGCCCCCCAGGTCCCTGGGAGCCTTCCCTTCAGACCCCACTGAGTTCTTTTCCGGGATGCTGAGGACTCACTGTGCCCCTGGGATGCCCTGAGGACCCCGTTCAAGATATTGCCAGGGCACCACAGACCTAAGAGCCCTCACTGAAACCTAGAAAAGCTCTAGGACCCCTGGGACCCGCATGAGGACTGCAGGACCCCACTGCCCCCCCACCGGACCATGCCAAACCTGCTGAGACCCTGAGAGTCCCCCCAACAAGATGAGCCCCTGAGATCCTCTGAACCCTCCACCAAGGCCCCTTCAAGCCCCTTGGGACCTACTGAGACCCTCATGACCCCTCCTTCCCTCCCTGCCAAGACTGAACCTCTGGGTTCCTGCTGAGCCCTTGGCTCACCATCCCTTTCCTTCAGGACCCTGCTGACACCTGGGCCCTGTTGAAGCCCAACTAAGCCCCCAAGACTCTCAGGGGCTCAGGGAGCCCTGCGACCCTGCATAACTCCCCAGGATCCATGAACCCCAAGCCCGGGACTGTACCCAAACCTCTGAGGTCTCAACTGTCCTGGAGACCAAAATACCCGGGCTGTAGAACCTCTTAAGCTTGCTGGGATATCAAGGAGGCCTCCCGGGACCCCACTTACCCCTTGTGTGGGACAACAAGGACAATCTCCCTCCTCTCCGATCCTTTCCAGCTTCAGGGACTCTAAGGAACCCTCCCAGGATTCTGCCCCAAGACCCCTATAGCCCTCCCCCCAGGACCACACCAACACCCTGACAACCTACTAACCCCCTGGACCCCTAAAGACCACCGACTTCTCCCCTGCTACCACCAGGACACCCCTTCCCTCAGAACCTCAGGCACCTCCCAGGACTGCTGAGTCCTGCCAGGACGCCAGAGAGCCCTCCAGGGCTCCATGGACCCCTCACCTTGGTCCTTGAGGGCTCCCCGTCCTAGAACCCCAGTGAACCCCCACCCTGCTGATGCCCCCTTTGGCCCCTGTGTAACCAGTGACTCCGTTGACCTACGTGATCCCCCATGACCTCTGCTGACCCCTTCTGATCTTCAAAGACTCCCTGCCCCACTCTGACCCCCCAGTCATCCCTCTTTGGCCATATTTGACCTTTGATGAGATCCTCTTGTCACCCTTTGCCTCTTCCCAGACCTCCACGAGGCCCCTCGAATCCTTACTGTATCTTCAAGGTGACTCTGTGACCCTCCGGCCCCTCTAGGACCCCTTCTGACCCCGTCAACCTCTGCATCCTTTTGTTTCTCTCAGACCCCCACCCCCACCCCAGAAAAACCTCTTCAGTTCCTGGGGTGCTGGGCCTGGAAGGAAAGGGTTGTGGGTCAGGAAGGAGGATGGGACCTCCAGAGTGACCCAGCCTGGCTCTGTCTCCCCAGAAAGACACAGATGAGGAGGTCCGGGAATTTCTGCACAACAACCTTCACCTTCAGGGAAAGGTATGCCTCCTTCCTCTGCAAGCAAAAGAAGCAAGTCAGAAAGTAACCACAATATTAGTGAAGGTTTGAGCATTTACCAAAGACCAGGCATTGAAGAAAGACCTCAAAGGTCAGGAGTTTGAGACCAGCCTGGCCAATGTGGCGAAACCATGTTTCTACTAAAAATACAACAATTAGGCCGGGCACAATGGCTCATGCCTGTAATCCCAACACTTTGGAAGGCCAAGGCGGGCAGATCACCTGAGGTTAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAGTACAAAATTAGCTGGGTGTGATGGCGGGTGCCTGTAGTCCCGGCTACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGATGGGGCGAGGCT 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Task1_train_27096 | A mutation found in RYR1 (ryanodine receptor 1) on Chromosome 19 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; RYR1-related disorder | AGCCCTCACTGAAACCTAGAAAAGCTCTAGGACCCCTGGGACCCGCATGAGGACTGCAGGACCCCACTGCCCCCCCACCGGACCATGCCAAACCTGCTGAGACCCTGAGAGTCCCCCCAACAAGATGAGCCCCTGAGATCCTCTGAACCCTCCACCAAGGCCCCTTCAAGCCCCTTGGGACCTACTGAGACCCTCATGACCCCTCCTTCCCTCCCTGCCAAGACTGAACCTCTGGGTTCCTGCTGAGCCCTTGGCTCACCATCCCTTTCCTTCAGGACCCTGCTGACACCTGGGCCCTGTTGAAGCCCAACTAAGCCCCCAAGACTCTCAGGGGCTCAGGGAGCCCTGCGACCCTGCATAACTCCCCAGGATCCATGAACCCCAAGCCCGGGACTGTACCCAAACCTCTGAGGTCTCAACTGTCCTGGAGACCAAAATACCCGGGCTGTAGAACCTCTTAAGCTTGCTGGGATATCAAGGAGGCCTCCCGGGACCCCACTTACCCCTTGTGTGGGACAACAAGGACAATCTCCCTCCTCTCCGATCCTTTCCAGCTTCAGGGACTCTAAGGAACCCTCCCAGGATTCTGCCCCAAGACCCCTATAGCCCTCCCCCCAGGACCACACCAACACCCTGACAACCTACTAACCCCCTGGACCCCTAAAGACCACCGACTTCTCCCCTGCTACCACCAGGACACCCCTTCCCTCAGAACCTCAGGCACCTCCCAGGACTGCTGAGTCCTGCCAGGACGCCAGAGAGCCCTCCAGGGCTCCATGGACCCCTCACCTTGGTCCTTGAGGGCTCCCCGTCCTAGAACCCCAGTGAACCCCCACCCTGCTGATGCCCCCTTTGGCCCCTGTGTAACCAGTGACTCCGTTGACCTACGTGATCCCCCATGACCTCTGCTGACCCCTTCTGATCTTCAAAGACTCCCTGCCCCACTCTGACCCCCCAGTCATCCCTCTTTGGCCATATTTGACCTTTGATGAGATCCTCTTGTCACCCTTTGCCTCTTCCCAGACCTCCACGAGGCCCCTCGAATCCTTACTGTATCTTCAAGGTGACTCTGTGACCCTCCGGCCCCTCTAGGACCCCTTCTGACCCCGTCAACCTCTGCATCCTTTTGTTTCTCTCAGACCCCCACCCCCACCCCAGAAAAACCTCTTCAGTTCCTGGGGTGCTGGGCCTGGAAGGAAAGGGTTGTGGGTCAGGAAGGAGGATGGGACCTCCAGAGTGACCCAGCCTGGCTCTGTCTCCCCAGAAAGACACAGATGAGGAGGTCCGGGAATTTCTGCACAACAACCTTCACCTTCAGGGAAAGGTATGCCTCCTTCCTCTGCAAGCAAAAGAAGCAAGTCAGAAAGTAACCACAATATTAGTGAAGGTTTGAGCATTTACCAAAGACCAGGCATTGAAGAAAGACCTCAAAGGTCAGGAGTTTGAGACCAGCCTGGCCAATGTGGCGAAACCATGTTTCTACTAAAAATACAACAATTAGGCCGGGCACAATGGCTCATGCCTGTAATCCCAACACTTTGGAAGGCCAAGGCGGGCAGATCACCTGAGGTTAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAGTACAAAATTAGCTGGGTGTGATGGCGGGTGCCTGTAGTCCCGGCTACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGATGGGGCGAGGCTCCGTCTCAAAACAAAAAGATGAAGAAGAAGAAAGGCCTCAACATGCACTCACCCATTGAGTCCTCCCAAAAACGGAAAGGGGACATCCGGCGGACACTGTGGGAAGGGTCCCTCACGCCGGCCACTCCTTCTTCCTCCCTTCAGGTCGAAGGCTCCCCGTCTCTGCGCTGGCAGATGGCTCTGTACCGGGGCGTCCCGGGTCGCGAGGAGGACGCCGATGACCCCGAGAAAATCGTGCGCAGAGTCCAGGAAGTGTCAGCCGTGCTCTACTACCTGGACCAGGTGGGTGGGGCCGGAGGGGTCTTTCTACTGGGTCTCTGGGCGGAGCCTGGCGGGGGGAGGGGCTTCAAGGATGTGGGTGGGGTCTGGAGATGACTATTAAGTTTTGGGGCAGGGCAGGAGGTGGAGCCTCGAGTTTAAGGCGAGGCTTAGAATGGATCGGGGGAGGGGTCTGCTGCTTAATCTTGCATCTGGGGGCGGGACAGGGAAGGGGCAGATCTTTAGGTCTAGGGGTGGGGCCTAGAGGAGATGCGTTGAGTTTGTGGGCAGGGCCTTGGGTGGGTCGTAGAATTGGTCGTGGCCTGGCTCGTGGTCCTGGCTCTGTGGGACCTGGCCTAGGATGGAAACTTAGGTCTGGAGGCGGAGTCAGGACCCTGACTCTGTTGGTGGAGACAAGGTTTTCCTTCTGCCGTGTGAGTCTTAACCTGAATATGGACTTCGACACAGCTGGGCAGTTTCATCCAGGGCTGGGAGTGAGAGGGGCAGGGTCTGGGGATGTGACTGTCCTGCTATCCCCTCCCCAGACCGAGCACCCTTACAAGTCTAAGAAGGCCGTGTGGCACAAGCTTTTGTCCAAACAGCGCCGGCGGGCAGTCGTGGCCTGTTTCCGTATGACGCCCCTGTACAACCTGCCCACGTAAGGCCCCCAGGGACAAGGGAAGCGTGAAGGGCTGCGGAGAAAGGGTGGCTGGAGAGTCTGGAGAATGGAGGGCCAACGTGATGGGGCCTTGAGGGTGGTTGGGGGCTGCAGGCGCATGGGAGGTCGGGAAGCACGGAGGAGGGCGCGTCCCAGTGACGTCACACCTCTCCCCTGCAGGCACCGGGCATGTAACATGTTCCTGGAGAGCTACAAGGCTGCATGGATCCTGACTGAAGACCACAGTTTTGAGGACCGCATGATAGATGACCTTTCAGTGAGCTGGGACCCGCCTGGGGGAGTGGGGGGCGAGCTGGATAGGGCTGGGGCGGAGGCCACCCTTGGCACACCTCCAGGGGTCGGCCCTCCACATCAAGGGGTATAGAAATGCCAGCTCCTGGCTTGAGTAGAACCAAAGTAGGGCGCAGGATGTGGGAAAAGAGAAAAAAAAATCCAGACCAACAGGGACATGGGGGCAGTGACAGGAGGGGACTCTAGAAACCCTCTCCCCAAGTCTCCCCTCTCCCACCAGAAAGCTGGGGAGCAGGAGGAGGAGGAGGAAGAGGTGGAAGAGAAGAAGCCAGACCCCCTGCACCAGTTGGTCCTGCACTTCAGCCGCACTGCCCTGACGGAAAAGAGGTGAAGACTCTTGCCAGGGCCCCAGAAATGCCCCCAAGGTCCTGGGGCCACCCCCAGCCCAGCAGCTTCCCTGTGCCTCAGGAGAGGCCCTCCAGGTCCTGGGGGAGCCCAAGACAGACGGATCTTTAAATATCACTTTGCTGGTCAGGCACGGTGGCTCACGCCTGTAGTCCCAGCAATCTGGGAGGCTGAGGCAGGCAATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGCCAATATGGCAAAACCCCGTTTCTACAAAAATACAATAAATAGCCAGGCTTGGTGGTGGGCACTTGTAATCCCATCTACTCAGGAGGCTGAGGCGGAAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCATACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAGAAAAGAAAAGGAACGTAAATGTCACTTTGCTAGGACAGGCACAGCCAACATACACCGTTGCATGGCTGAACACTTCACAAGGGCATGTCTGAGGGGTTCGTATCACAGACAATGTAGATTAACTAGGCTTTTCTAGAAGAAAGTGTCTTGCTCAAATAAAATCAGTATATTATGAAAAAAATCCATATGTATGACAAATTTCCAACAGACAGAAGTAGTGGGGAGGTTTTCTGTAATTCCCTCAAAAGCTTCATGTAGGCTAATGACAGGCTTAGTAATAAATAATTGTGATGCAGATGGCGCAGCTGCTGCCGCTGCTGCTGACAGTAGCAGGCAGCC 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AGCCCTCACTGAAACCTAGAAAAGCTCTAGGACCCCTGGGACCCGCATGAGGACTGCAGGACCCCACTGCCCCCCCACCGGACCATGCCAAACCTGCTGAGACCCTGAGAGTCCCCCCAACAAGATGAGCCCCTGAGATCCTCTGAACCCTCCACCAAGGCCCCTTCAAGCCCCTTGGGACCTACTGAGACCCTCATGACCCCTCCTTCCCTCCCTGCCAAGACTGAACCTCTGGGTTCCTGCTGAGCCCTTGGCTCACCATCCCTTTCCTTCAGGACCCTGCTGACACCTGGGCCCTGTTGAAGCCCAACTAAGCCCCCAAGACTCTCAGGGGCTCAGGGAGCCCTGCGACCCTGCATAACTCCCCAGGATCCATGAACCCCAAGCCCGGGACTGTACCCAAACCTCTGAGGTCTCAACTGTCCTGGAGACCAAAATACCCGGGCTGTAGAACCTCTTAAGCTTGCTGGGATATCAAGGAGGCCTCCCGGGACCCCACTTACCCCTTGTGTGGGACAACAAGGACAATCTCCCTCCTCTCCGATCCTTTCCAGCTTCAGGGACTCTAAGGAACCCTCCCAGGATTCTGCCCCAAGACCCCTATAGCCCTCCCCCCAGGACCACACCAACACCCTGACAACCTACTAACCCCCTGGACCCCTAAAGACCACCGACTTCTCCCCTGCTACCACCAGGACACCCCTTCCCTCAGAACCTCAGGCACCTCCCAGGACTGCTGAGTCCTGCCAGGACGCCAGAGAGCCCTCCAGGGCTCCATGGACCCCTCACCTTGGTCCTTGAGGGCTCCCCGTCCTAGAACCCCAGTGAACCCCCACCCTGCTGATGCCCCCTTTGGCCCCTGTGTAACCAGTGACTCCGTTGACCTACGTGATCCCCCATGACCTCTGCTGACCCCTTCTGATCTTCAAAGACTCCCTGCCCCACTCTGACCCCCCAGTCATCCCTCTTTGGCCATATTTGACCTTTGATGAGATCCTCTTGTCACCCTTTGCCTCTTCCCAGACCTCCACGAGGCCCCTCGAATCCTTACTGTATCTTCAAGGTGACTCTGTGACCCTCCGGCCCCTCTAGGACCCCTTCTGACCCCGTCAACCTCTGCATCCTTTTGTTTCTCTCAGACCCCCACCCCCACCCCAGAAAAACCTCTTCAGTTCCTGGGGTGCTGGGCCTGGAAGGAAAGGGTTGTGGGTCAGGAAGGAGGATGGGACCTCCAGAGTGACCCAGCCTGGCTCTGTCTCCCCAGAAAGACACAGATGAGGAGGTCCGGGAATTTCTGCACAACAACCTTCACCTTCAGGGAAAGGTATGCCTCCTTCCTCTGCAAGCAAAAGAAGCAAGTCAGAAAGTAACCACAATATTAGTGAAGGTTTGAGCATTTACCAAAGACCAGGCATTGAAGAAAGACCTCAAAGGTCAGGAGTTTGAGACCAGCCTGGCCAATGTGGCGAAACCATGTTTCTACTAAAAATACAACAATTAGGCCGGGCACAATGGCTCATGCCTGTAATCCCAACACTTTGGAAGGCCAAGGCGGGCAGATCACCTGAGGTTAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAGTACAAAATTAGCTGGGTGTGATGGCGGGTGCCTGTAGTCCCGGCTACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGATGGGGCGAGGCTCCGTCTCAAAACAAAAAGATGAAGAAGAAGAAAGGCCTCAACATGCACTCACCCATTGAGTCCTCCCAAAAACGGAAAGGGGACATCCGGCGGACACTGTGGGAAGGGTCCCTCACGCCGGCCACTCCTTCTTCCTCCCTTCAGGTCGAAGGCTCCCCGTCTCTGCGCTGGCAGATGGCTCTGTACCGGGGCGTCCCGGGTCGCGAGGAGGACGCCGATGACCCCGAGAAAATCGTGCGCAGAGTCCAGGAAGTGTCAGCCGTGCTCTACTACCCGGACCAGGTGGGTGGGGCCGGAGGGGTCTTTCTACTGGGTCTCTGGGCGGAGCCTGGCGGGGGGAGGGGCTTCAAGGATGTGGGTGGGGTCTGGAGATGACTATTAAGTTTTGGGGCAGGGCAGGAGGTGGAGCCTCGAGTTTAAGGCGAGGCTTAGAATGGATCGGGGGAGGGGTCTGCTGCTTAATCTTGCATCTGGGGGCGGGACAGGGAAGGGGCAGATCTTTAGGTCTAGGGGTGGGGCCTAGAGGAGATGCGTTGAGTTTGTGGGCAGGGCCTTGGGTGGGTCGTAGAATTGGTCGTGGCCTGGCTCGTGGTCCTGGCTCTGTGGGACCTGGCCTAGGATGGAAACTTAGGTCTGGAGGCGGAGTCAGGACCCTGACTCTGTTGGTGGAGACAAGGTTTTCCTTCTGCCGTGTGAGTCTTAACCTGAATATGGACTTCGACACAGCTGGGCAGTTTCATCCAGGGCTGGGAGTGAGAGGGGCAGGGTCTGGGGATGTGACTGTCCTGCTATCCCCTCCCCAGACCGAGCACCCTTACAAGTCTAAGAAGGCCGTGTGGCACAAGCTTTTGTCCAAACAGCGCCGGCGGGCAGTCGTGGCCTGTTTCCGTATGACGCCCCTGTACAACCTGCCCACGTAAGGCCCCCAGGGACAAGGGAAGCGTGAAGGGCTGCGGAGAAAGGGTGGCTGGAGAGTCTGGAGAATGGAGGGCCAACGTGATGGGGCCTTGAGGGTGGTTGGGGGCTGCAGGCGCATGGGAGGTCGGGAAGCACGGAGGAGGGCGCGTCCCAGTGACGTCACACCTCTCCCCTGCAGGCACCGGGCATGTAACATGTTCCTGGAGAGCTACAAGGCTGCATGGATCCTGACTGAAGACCACAGTTTTGAGGACCGCATGATAGATGACCTTTCAGTGAGCTGGGACCCGCCTGGGGGAGTGGGGGGCGAGCTGGATAGGGCTGGGGCGGAGGCCACCCTTGGCACACCTCCAGGGGTCGGCCCTCCACATCAAGGGGTATAGAAATGCCAGCTCCTGGCTTGAGTAGAACCAAAGTAGGGCGCAGGATGTGGGAAAAGAGAAAAAAAAATCCAGACCAACAGGGACATGGGGGCAGTGACAGGAGGGGACTCTAGAAACCCTCTCCCCAAGTCTCCCCTCTCCCACCAGAAAGCTGGGGAGCAGGAGGAGGAGGAGGAAGAGGTGGAAGAGAAGAAGCCAGACCCCCTGCACCAGTTGGTCCTGCACTTCAGCCGCACTGCCCTGACGGAAAAGAGGTGAAGACTCTTGCCAGGGCCCCAGAAATGCCCCCAAGGTCCTGGGGCCACCCCCAGCCCAGCAGCTTCCCTGTGCCTCAGGAGAGGCCCTCCAGGTCCTGGGGGAGCCCAAGACAGACGGATCTTTAAATATCACTTTGCTGGTCAGGCACGGTGGCTCACGCCTGTAGTCCCAGCAATCTGGGAGGCTGAGGCAGGCAATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGCCAATATGGCAAAACCCCGTTTCTACAAAAATACAATAAATAGCCAGGCTTGGTGGTGGGCACTTGTAATCCCATCTACTCAGGAGGCTGAGGCGGAAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCATACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAGAAAAGAAAAGGAACGTAAATGTCACTTTGCTAGGACAGGCACAGCCAACATACACCGTTGCATGGCTGAACACTTCACAAGGGCATGTCTGAGGGGTTCGTATCACAGACAATGTAGATTAACTAGGCTTTTCTAGAAGAAAGTGTCTTGCTCAAATAAAATCAGTATATTATGAAAAAAATCCATATGTATGACAAATTTCCAACAGACAGAAGTAGTGGGGAGGTTTTCTGTAATTCCCTCAAAAGCTTCATGTAGGCTAATGACAGGCTTAGTAATAAATAATTGTGATGCAGATGGCGCAGCTGCTGCCGCTGCTGCTGACAGTAGCAGGCAGCC 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Task1_train_27097 | This mutation occurs in RYR1 (ryanodine receptor 1) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; RYR1-related disorder | GCTGGGATTACAGGCACGCACCATCATGCCTAACTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTCCTGGGATTACAGGCATGAGCCACCACACCTGGCCAGAGGTGGATTTTTGAGACAGACAGTGTCACACTGCTCATGATAGAGGGGTAGGCAAGCAGACGAGGTGAGGGCAGAAGGTGAGGGGTTCCGGTGTGATTATGTCTCCATGCTCTGTGGTTTCTAGAGCCCTTCATGATTTGCAAAGCATGTTACTCATTTAGAAAGCATTTTGCAAAGTTCTGGGGTTTTTACAAAGCACTTTTGAGAGCCAGAAAATTTTGCTTCTGTTCATACCCCAGAGCAACATTTCTCACACTGCATGTTGCTACCCGTCTGGAGGTAATGAAATTAATTTAGCAATGCGTAACTCGTGACCAGCATCTTTAGAAATAAAATAGAACACTGCAGAGTGTGCTACACAGCAAAGGTCAGAATTATGTCATGAAACCTTTTTTTTTTTTTTTGAGTCACATTGTAAAATGTATTCTTATGGTTGAGTGAGTGCGGTCAAGAACATTTTATGCTGCTCTAGAGAACCTCTTGCAAAAATGCATGGGCAATCAGCACAAGAATGTTCAAGAAAAGTGTTGTCTGAAAGAAATCTGTGGGTGAACTTGGTGATTTATGCTTGTAATCCCAACACTTTGGGAGGCGGAGGAGGGCAAATCACCTGAGTTCAGGAGTTTGGGACAAGCCTGGGCAACATGGCAAAACCCCGTCTACAAAAAAATACAAAAATTCACCAGGCACAGTGGCATGCACCTGTAGTCCTAGCTACTCAGGAGGCTGAAGCACGAGACTCATTTGACCCTGGGAGGTGGAGGCTGCAATGAGCTGAGATCGTGCCACTGCACCACTCCAGCCTGGGTGAAAGAGTGAGACCCTGTCTCAGAAAAAAAAAACAAAAACAAAATACAAATCTGGAAGCAACCTACATTTCCATTAGCAGGATAACAGATAAAGAGTGTTATGGCTGGGCGCGGTGGCACACACCTGTCACCCCTGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGACAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCCTATCTCACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCACTTGACCCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAGAAAGAAAAAGAAAAAAAAGCAAGTTTCAGCTGAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGACCAGCCTTGGCAACATAGGGAGACCTTATCTCTACAAAAAAAAATTAAAATTAAAATTAGCCAGGTGTAGCGGTGTGTGCCTGTAGTCCCAGCTGCTCTGGATGCTGGGTACTTGAGCCCGGGGGTGGGGATGGGGACGAGAGGGGATGTCTTGAGGCTGGGTTGAGCTGTGATTGCGCCACTGCACTCCAGCCTGGGCGACACAGCGAGACCTTGTCTTAAAAAAAAAAAAAAAAAGAGAGAGAATTGAGGCTCTCCAGGTCACCCCACTGACCTCCCTGCCCGCCCCCAGGCCATGGACAGCCAGAAGCAGTTCAGCGGTCCAGAAATCCAGTTCCTGCTTTCGTGCTCCGAAGCGGATGAGAACGAAATGATCAACTGCGAAGAGTTCGCCAACCGCTTCCAGGAGCCAGCACGCGACATCGGCTTCAACGTGGCGGTGCTGCTGACCAACCTGTCGGAGCATGTGCCGCATGACCCTCGCCTGCACAACTTCCTGGAGCTGGCCGAGAGCATCCTTGAGTACTTCCGCCCCTACCTGGGCCGCATCGAGATCATGGGCGCGTCACGCCGCATCGAGCGCATCTACTTCGAGATCTCAGAGACCAACCGCGCCCAGTGGGAGATGCCCCAGGTCAGGGAACCCGCGCGCGTGCAAGCTCGCCTCCTGGGGCTTCGGGCATGCGGGTGCTCACTTCCTGCACCCTCAGACCCCACGGGGGCTGTGCGTGCCTCGCATATCTGCCCTGCTCCGGCAAGCCCACGCCCACCCTTTTGTACACATTTCGTCCAGCTGCGCCCTTGCACATCCCTGGCTCGCCCCTGGCCACTTCTTGCGGACCTGGCCCACACAAGGATGCACACCCCTTGGGCATGAAGCAGGGTCAGTGTGTCCTGACTGTGGCTGCTCACACGCCATGCTTTCCCCTTACACCCACACCCTGGGAGCTCTGGCAGGCCCTTATAGCCCTGATGCAGCCCTACCCACACTCTCACCTCCTCGAACCTGCATGGCGACACACCCCTTGCTCACCTTCCCAGTAGCCCCCGGCGTGCCGTCTCTTGGTCCTGGCCCGCTCATGCTCACTCTTGTACACGCTCGCCTTGGGGGCTCTGGGGTGCCCTGGCATGCTGACCCACCCTTCACCAGTCATCACGTTTGCCCCCAGATGCCTTCTGAAGTCCTAGCATATGTGTACCCCAACTTATTCTGGGCCCACACGTGGGTGCACACCTCTTGCACACACACCCTGAGGATGCCAATGAGCCCTCTCAGAACCCTGGCATGCTTCATTTGTTCACTGTCCACTTGCCCTCACTGTAGCCCTGGCACAACCATGCTCACCCATGCACACTTGGGCCACGGTCTCAGGCTCACCCAGAAGAGCCCTCAGACCTACTCTCTAATCTGACATGCCCTATCTCAGCTCCTCCTATGCCCAGCCCACAAATGCTTGAACATCCCTCACACACTCGCTTGCCCCAAGGGTACACTCACGTGGTCCCGGCATGTCCCCAGCAGAGCTGGCACACCTGGCTGACATATGGTTCCCCTCCCCATTCCCTCACACTCCCCACACGCCCCTGACACACCCTCACCTCATTCTCTTGCACACACACTTGCTTGTTGTTCCTCAGATGCCGCCAGGTACTTGCACACCCCTTCTTGTCTCACACACATAGCCCGGGAGGTTTGCGCACCCGTCACCTCCTTCATGAGTGGGCCCTTCATATGTCTCCTCAGGGGACACCAGCTCATGCACGCGGGCTCATGTCCCACACAGAGCCCTGTCCTCATGTTCTGGGAGCCAGTACACAAACCCTTGGCTCCCCTTCCCACATTCATGCCTGCCTCACGCACACTGCATAACTGCAGGCCCCTCTCACACTCATACTCCTCCTGTCCCCCCACAGAGTCCCAGGCCCTTGCACACCTGCCCCGTGTGCCCACGTCCACCGTGCACACTGAGCCTCTCGTGGTTGCACACTTTTGGCATCTTCCCATGCCGCCACGCCCTCCTTACTCCTGATCCCTCCCTGGCCCCCGGTGTCTCCTCACATACTCCGCAGGAACCCTTGAGATCTTGCACACTCATCTGTGCCCCTCGGGGCCCCACTGCATACACACCCCCATCTGGCACACAAGTGGTTGCAGCATCCTGGCACCCAGGATGTCCACACATCCCTGCCTCTGCAGGAAGCCCCTGTTCACCACGGCCCTTCCCACTCATTCTTTGCACGTGCTGGGGGAGCTCTGCCCTCCTCTCTTCCTCTGACCCTGCGTGCTCCCCATACAAACACTCTTTGCCTTAGTGCTATTCCTCCAAACACCCGCTTCCTTCTGCTCACCCCTTCCCATTCCACTTTCCCCTGCTTCTCAGGCATCCACGTATGCCCATGTGGCCTTGGAGCACCTGTGGGGCAGTATAATAATAGGTAACACTACGGTGTTGTTGTTGTTTGAGACAGAGTTTCGCTCTTGTTGACCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTCAACCTCCACCTCCTGGGTTCAAGCGGTTTTCCTGTCTCAGCCTCCTGAGTAGCTGAGATTACAGCCATGTGCAACCATGCCCACCTAATTTTTATATTTTCAGTAGAGGCGGGGTT 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GCTGGGATTACAGGCACGCACCATCATGCCTAACTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTCCTGGGATTACAGGCATGAGCCACCACACCTGGCCAGAGGTGGATTTTTGAGACAGACAGTGTCACACTGCTCATGATAGAGGGGTAGGCAAGCAGACGAGGTGAGGGCAGAAGGTGAGGGGTTCCGGTGTGATTATGTCTCCATGCTCTGTGGTTTCTAGAGCCCTTCATGATTTGCAAAGCATGTTACTCATTTAGAAAGCATTTTGCAAAGTTCTGGGGTTTTTACAAAGCACTTTTGAGAGCCAGAAAATTTTGCTTCTGTTCATACCCCAGAGCAACATTTCTCACACTGCATGTTGCTACCCGTCTGGAGGTAATGAAATTAATTTAGCAATGCGTAACTCGTGACCAGCATCTTTAGAAATAAAATAGAACACTGCAGAGTGTGCTACACAGCAAAGGTCAGAATTATGTCATGAAACCTTTTTTTTTTTTTTTGAGTCACATTGTAAAATGTATTCTTATGGTTGAGTGAGTGCGGTCAAGAACATTTTATGCTGCTCTAGAGAACCTCTTGCAAAAATGCATGGGCAATCAGCACAAGAATGTTCAAGAAAAGTGTTGTCTGAAAGAAATCTGTGGGTGAACTTGGTGATTTATGCTTGTAATCCCAACACTTTGGGAGGCGGAGGAGGGCAAATCACCTGAGTTCAGGAGTTTGGGACAAGCCTGGGCAACATGGCAAAACCCCGTCTACAAAAAAATACAAAAATTCACCAGGCACAGTGGCATGCACCTGTAGTCCTAGCTACTCAGGAGGCTGAAGCACGAGACTCATTTGACCCTGGGAGGTGGAGGCTGCAATGAGCTGAGATCGTGCCACTGCACCACTCCAGCCTGGGTGAAAGAGTGAGACCCTGTCTCAGAAAAAAAAAACAAAAACAAAATACAAATCTGGAAGCAACCTACATTTCCATTAGCAGGATAACAGATAAAGAGTGTTATGGCTGGGCGCGGTGGCACACACCTGTCACCCCTGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGACAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCCTATCTCACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCACTTGACCCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAGAAAGAAAAAGAAAAAAAAGCAAGTTTCAGCTGAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGACCAGCCTTGGCAACATAGGGAGACCTTATCTCTACAAAAAAAAATTAAAATTAAAATTAGCCAGGTGTAGCGGTGTGTGCCTGTAGTCCCAGCTGCTCTGGATGCTGGGTACTTGAGCCCGGGGGTGGGGATGGGGACGAGAGGGGATGTCTTGAGGCTGGGTTGAGCTGTGATTGCGCCACTGCACTCCAGCCTGGGCGACACAGCGAGACCTTGTCTTAAAAAAAAAAAAAAAAAGAGAGAGAATTGAGGCTCTCCAGGTCACCCCACTGACCTCCCTGCCCGCCCCCAGGCCATGGACAGCCAGAAGCAGTTCAGCGGTCCAGAAATCCAGTTCCTGCTTTCGTGCTCCGAAGCGGATGAGAACGAAATGATCAACTGCGAAGAGTTCGCCAACCGCTTCCAGGAGCCAGCACGCGACATCGGCTTCAACGTGGCGGTGCTGCTGACCAACCTGTCGGAGCATGTGCCGCATGACCCTCGCCTGCACAACTTCCTGGAGCTGGCCGAGAGCATCCTTGAGTACTTCCGCCCCTACCTGGGCCGCATCGAGATCATGGGCGCGTCACGCCGCATCGAGCGCATCTACTTGGAGATCTCAGAGACCAACCGCGCCCAGTGGGAGATGCCCCAGGTCAGGGAACCCGCGCGCGTGCAAGCTCGCCTCCTGGGGCTTCGGGCATGCGGGTGCTCACTTCCTGCACCCTCAGACCCCACGGGGGCTGTGCGTGCCTCGCATATCTGCCCTGCTCCGGCAAGCCCACGCCCACCCTTTTGTACACATTTCGTCCAGCTGCGCCCTTGCACATCCCTGGCTCGCCCCTGGCCACTTCTTGCGGACCTGGCCCACACAAGGATGCACACCCCTTGGGCATGAAGCAGGGTCAGTGTGTCCTGACTGTGGCTGCTCACACGCCATGCTTTCCCCTTACACCCACACCCTGGGAGCTCTGGCAGGCCCTTATAGCCCTGATGCAGCCCTACCCACACTCTCACCTCCTCGAACCTGCATGGCGACACACCCCTTGCTCACCTTCCCAGTAGCCCCCGGCGTGCCGTCTCTTGGTCCTGGCCCGCTCATGCTCACTCTTGTACACGCTCGCCTTGGGGGCTCTGGGGTGCCCTGGCATGCTGACCCACCCTTCACCAGTCATCACGTTTGCCCCCAGATGCCTTCTGAAGTCCTAGCATATGTGTACCCCAACTTATTCTGGGCCCACACGTGGGTGCACACCTCTTGCACACACACCCTGAGGATGCCAATGAGCCCTCTCAGAACCCTGGCATGCTTCATTTGTTCACTGTCCACTTGCCCTCACTGTAGCCCTGGCACAACCATGCTCACCCATGCACACTTGGGCCACGGTCTCAGGCTCACCCAGAAGAGCCCTCAGACCTACTCTCTAATCTGACATGCCCTATCTCAGCTCCTCCTATGCCCAGCCCACAAATGCTTGAACATCCCTCACACACTCGCTTGCCCCAAGGGTACACTCACGTGGTCCCGGCATGTCCCCAGCAGAGCTGGCACACCTGGCTGACATATGGTTCCCCTCCCCATTCCCTCACACTCCCCACACGCCCCTGACACACCCTCACCTCATTCTCTTGCACACACACTTGCTTGTTGTTCCTCAGATGCCGCCAGGTACTTGCACACCCCTTCTTGTCTCACACACATAGCCCGGGAGGTTTGCGCACCCGTCACCTCCTTCATGAGTGGGCCCTTCATATGTCTCCTCAGGGGACACCAGCTCATGCACGCGGGCTCATGTCCCACACAGAGCCCTGTCCTCATGTTCTGGGAGCCAGTACACAAACCCTTGGCTCCCCTTCCCACATTCATGCCTGCCTCACGCACACTGCATAACTGCAGGCCCCTCTCACACTCATACTCCTCCTGTCCCCCCACAGAGTCCCAGGCCCTTGCACACCTGCCCCGTGTGCCCACGTCCACCGTGCACACTGAGCCTCTCGTGGTTGCACACTTTTGGCATCTTCCCATGCCGCCACGCCCTCCTTACTCCTGATCCCTCCCTGGCCCCCGGTGTCTCCTCACATACTCCGCAGGAACCCTTGAGATCTTGCACACTCATCTGTGCCCCTCGGGGCCCCACTGCATACACACCCCCATCTGGCACACAAGTGGTTGCAGCATCCTGGCACCCAGGATGTCCACACATCCCTGCCTCTGCAGGAAGCCCCTGTTCACCACGGCCCTTCCCACTCATTCTTTGCACGTGCTGGGGGAGCTCTGCCCTCCTCTCTTCCTCTGACCCTGCGTGCTCCCCATACAAACACTCTTTGCCTTAGTGCTATTCCTCCAAACACCCGCTTCCTTCTGCTCACCCCTTCCCATTCCACTTTCCCCTGCTTCTCAGGCATCCACGTATGCCCATGTGGCCTTGGAGCACCTGTGGGGCAGTATAATAATAGGTAACACTACGGTGTTGTTGTTGTTTGAGACAGAGTTTCGCTCTTGTTGACCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTCAACCTCCACCTCCTGGGTTCAAGCGGTTTTCCTGTCTCAGCCTCCTGAGTAGCTGAGATTACAGCCATGTGCAACCATGCCCACCTAATTTTTATATTTTCAGTAGAGGCGGGGTT 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Task1_train_27098 | A genomic change on Chromosome 19 affects RYR1 (ryanodine receptor 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Central core myopathy | TGTTGTTGTTTGAGACAGAGTTTCGCTCTTGTTGACCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTCAACCTCCACCTCCTGGGTTCAAGCGGTTTTCCTGTCTCAGCCTCCTGAGTAGCTGAGATTACAGCCATGTGCAACCATGCCCACCTAATTTTTATATTTTCAGTAGAGGCGGGGTTTTGCCATGTTGGCAAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGTGTGCGCCACCGTGGCCTGCCCACTATACAGCATTTATCAGGCACCGGGCGCTGTTCTAATCATGCAGCATCTATTAACTCATTTAACCCTCACACCAACCCTATAATGTAGGTCCTATTATGCCCATTTTACAGAGGGGAAAACGGAGGTCCAGAGAGTTAATTCAAAATCACCCAGCTACTCAGTGGCAGAATCAGGATTTGAACCCAGGCAGGCTGGCTGCAGAGCCTTTGCCTTTAAGCACTATGCTCCTCCTCTCAAGGAAGCTAAACACATCCATTCTGGAGCCAGCTCTCTGGGGGTTCGAATCCTATATGTGCCACCTTGTCTGTGTCACCTGGGCATGTAACTTTCTGGGCCTCCCTGTCCTCATCTATAAAATGGGAAGAAAACCCGCTAGCCCTAGGCTTGTTTGTGAGGATTAAATGAGTTTTATGGAAACTGCTTGTATGGGGCCTGGCCTTATTGAAGCATTTACAGGAGTACCCACAGTGAGTGCTCTCTATAAAGCTCTCTCTATAGGTTTGCTATTGATAATCAAAACAACAACTTGGCCAGGCGCTGTGGCTCCTGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCCAGAGGATTGCTCGAGGCCAGGAGTTCGACACCAGCCTGACCAACACAGACAGACCCTGTCTCTGCAAAAAAATTTTTTTTAGAAATTAGCAGGCCAGTCATGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGGTGAGGCGGGCAGATCACTTGAGGCCAGGAGTTCCAGATCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTGAAAATTCAAAAACTCAGCCCAGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCCGAGGCATGGGGATCATGTGAACCCTGGGGACGAAGGTTACAGTGAGACAGCGTCACTTCATTCCAGCCTAGGAGACAGAGCTAGATCTTGTCTTTTTTTTTTTTTTTCTTGAGACAGACTTTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCACAGCTCATGGCAACCTCCGCCTCCCGGGTTCAAGTTATTCTCCTACCTCAGCCTCCCGAGTAACGGATTACAGGGGTGCGCCACCACACCGGCTAATTTTTGCATTTTTAGTAGAGACGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAAGTGATCTGCCAGCCTCAGTTTCCCAAAGTGCTATGATTACAGGCGGAGCCACCGCGCCCAGCCTGACCCTGTCTCAAAAACAAAATACCAACAATGCATTTAGAACAGCGCCTGCCGCGGTGACCCCTTGTAGCTGCCACTGCGCTGTCGCTGCTGTCCGAGCCCCCGCTGACGGCGCCCTATCCTGTCTGCCGCCCCTCGCTTCAGGTGAAGGAGTCCAAGCGCCAGTTCATCTTCGACGTGGTGAACGAGGGCGGCGAGGCTGAGAAGATGGAGCTCTTCGTGAGTTTCTGCGAGGACACCATCTTCGAGATGCAGATCGCCGCGCAGATCTCGGAGCCCGAGGGCGAGCCGGAGACCGACGAGGACGAGGGCGCGGGCGCGGCGGAGGCGGGCGCGGAAGGCGCGGAGGAGGGCGCGGCGGGGCTCGAGGGCACGGCGGCCACGGCGGCGGCGGGGGCGACGGCGCGGGTTGTGGCGGCCGCAGGCCGGGCCCTGCGAGGCCTCAGCTACCGCAGCCTGCGGCGGCGCGTGCGGCGGCTGCGGCGGCTTACGGCCCGCGAGGCGGCCACCGCAGTGGCGGCGCTGCTCTGGGCAGCAGTGACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGGGCGCGCTGGGCCTGCTCTGGGGCTCGCTGTTCGGCGGCGGCCTGGTGGAGGGCGCCAAGAAGGTGACGGTGACCGAGCTCCTGGCAGGCATGCCCGACCCCACCAGCGACGAGGTGCACGGCGAGCAGCCGGCCGGGCCGGGCGGAGACGCAGACGGCGAGGGTGCCAGCGAGGGCGCTGGAGACGCCGCGGAGGGCGCTGGAGACGAGGAGGAGGCGGTGCACGAGGCCGGGCCGGGCGGTGCCGACGGGGCGGTGGCCGTGACCGATGGGGGCCCCTTCCGGCCCGAAGGGGCTGGCGGTCTCGGGGACATGGGGGACACGACGCCTGCGGAACCGCCCACACCCGAGGGCTCTCCCATCCTCAAGAGGAAATTGGGGGTGAGAGAGCAGGCGGGGTTTTGGGGTTTTGGAAAGATGGGGGATTGGAGGGAGGAAGAGAGCCCGGCTGGGTGGAGACACACACAGAGGAGAGAACTGGCTAGGGGGATGGGCACACGCACCCACGGAGGACGCACCCATGGAGGACGCACACGGGGACAGCGGGCGCCGGGCAAGAGAGACGCTCAGAGACAGAGGGATACTCAGACCCACAGAGAAAGAGACTCAGAGATGGAGACCTGGAGAAAGGGCCGGGGAGAGAGAGTGCAGGGCCGGACAGAGTGCAGGGCCGGACAGAGTGCAGGGCCCGGAGAGGTAGAGAAAATGATACCTGCAGAGCCAGAGAGAGTAAGAAACCCAGAGACCAAATTAGAGGGCAGGAAAGACCAAAACTAAGCCAGGCGCGGTGGCTTACACCTGTGATCCCAGCACTTTGGGAGGCCGAGGCGGGCCGATCACCTGAGGTCAGGAGTTTGAGACCATCCTGGCCACCGTGGTGGAACCCCGTCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGGTGTGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAGACCAAGACTAAAAAAAGTCCCGAGACAGGGTCAGGGCCACTAGGAAAAGACCCTCGGAGATACTCGTTGTGGGAATGAAGTACACCGTGGAGGAAGGGACCCCAAACATCCTCAGGCCCTTGGTGCTGGGAATGCCTTGGGAATGTGGAGGTCAAGGTGGTGGGAAGCCCTGGGGACAAGCAGAGCTGCACTTGGAGTCAGCCCGACCCTGCGCAGTGCTTTGGGCAAAGGGCTTCACCTCGATGAGCCTCAGTTTCCCCTCTGTAAAACGGGAATCATAATCTGCCTCTTTCTGGTGGAGGGAAGTGTAAAACTTAGATTACCCAGGGGAAATAAGAGAGAAAGGAGATGAGAGGAGCAGGCAGGCAGCCTGAGAAGCGCTTAGGGTGAGGACTCAGCCCTGATGCTTGCCCTGTCCCTAGGTGGATGGAGTGGAGGAGGAGCTCCCGCCAGAGCCAGAGCCCGAGCCGGAACCAGAGCTGGAGCCGGAGAAAGCCGAGTGAGTGGCCTTGGGGCTGAGGGGCCTAGCCCCTATCACTGCCTCCCTCCTAGAGTAGGAGCCTCCAGAGGTCAGGCCCCAAGGCTGTCCTGGCCACCCTGTGTCCTCGGCATCACCCAGCCCAGACTCAGGCACGGAGGAGGGGCTCTGAGTAAAAGAATCAAGAAATAAATGCTCCAACCTGGGCAACATAAAAAAAAAATTAAAATTAGCCAAGCATGGTGGTGTGTGGGGAGGCTGAGGTGGGAGGATCACTTGACCCCTGGAGGTGGAGGCTGCAGTGAGCCCTGATCGCAGCATTGCCCTCCAGCCTGGGTGACAGAGCAAGACCCTGTGTCGAAAAAGAAAAAAAAATATGGAGAGATAGAAAAATGAAAACT 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TGTTGTTGTTTGAGACAGAGTTTCGCTCTTGTTGACCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTCAACCTCCACCTCCTGGGTTCAAGCGGTTTTCCTGTCTCAGCCTCCTGAGTAGCTGAGATTACAGCCATGTGCAACCATGCCCACCTAATTTTTATATTTTCAGTAGAGGCGGGGTTTTGCCATGTTGGCAAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGTGTGCGCCACCGTGGCCTGCCCACTATACAGCATTTATCAGGCACCGGGCGCTGTTCTAATCATGCAGCATCTATTAACTCATTTAACCCTCACACCAACCCTATAATGTAGGTCCTATTATGCCCATTTTACAGAGGGGAAAACGGAGGTCCAGAGAGTTAATTCAAAATCACCCAGCTACTCAGTGGCAGAATCAGGATTTGAACCCAGGCAGGCTGGCTGCAGAGCCTTTGCCTTTAAGCACTATGCTCCTCCTCTCAAGGAAGCTAAACACATCCATTCTGGAGCCAGCTCTCTGGGGGTTCGAATCCTATATGTGCCACCTTGTCTGTGTCACCTGGGCATGTAACTTTCTGGGCCTCCCTGTCCTCATCTATAAAATGGGAAGAAAACCCGCTAGCCCTAGGCTTGTTTGTGAGGATTAAATGAGTTTTATGGAAACTGCTTGTATGGGGCCTGGCCTTATTGAAGCATTTACAGGAGTACCCACAGTGAGTGCTCTCTATAAAGCTCTCTCTATAGGTTTGCTATTGATAATCAAAACAACAACTTGGCCAGGCGCTGTGGCTCCTGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCCAGAGGATTGCTCGAGGCCAGGAGTTCGACACCAGCCTGACCAACACAGACAGACCCTGTCTCTGCAAAAAAATTTTTTTTAGAAATTAGCAGGCCAGTCATGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGGTGAGGCGGGCAGATCACTTGAGGCCAGGAGTTCCAGATCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTGAAAATTCAAAAACTCAGCCCAGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCCGAGGCATGGGGATCATGTGAACCCTGGGGACGAAGGTTACAGTGAGACAGCGTCACTTCATTCCAGCCTAGGAGACAGAGCTAGATCTTGTCTTTTTTTTTTTTTTTCTTGAGACAGACTTTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCACAGCTCATGGCAACCTCCGCCTCCCGGGTTCAAGTTATTCTCCTACCTCAGCCTCCCGAGTAACGGATTACAGGGGTGCGCCACCACACCGGCTAATTTTTGCATTTTTAGTAGAGACGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAAGTGATCTGCCAGCCTCAGTTTCCCAAAGTGCTATGATTACAGGCGGAGCCACCGCGCCCAGCCTGACCCTGTCTCAAAAACAAAATACCAACAATGCATTTAGAACAGCGCCTGCCGCGGTGACCCCTTGTAGCTGCCACTGCGCTGTCGCTGCTGTCCGAGCCCCCGCTGACGGCGCCCTATCCTGTCTGCCGCCCCTCGCTTCAGGTGAAGGAGTCCAAGCGCCAGTTCATCTTCGACGTGGTGAACGAGGGCGGCGAGGCTGAGAAGATGGAGCTCTTCGTGAGTTTCTGCGAGGACACCATCTTCGAGATGCAGATCGCCGCGCAGATCTCGGAGCCCGAGGGCGAGCCGGAGACCGACGAGGACGAGGGCGCGGGCGCGGCGGAGGCGGGCGCGGAAGGCGCGGAGGAGGGCGCGGCGGGGCTCGAGGGCACGGCGGCCACGGCGGCGGCGGGGGCGACGGCGCGGGTTGTGGCGGCCGCAGGCCGGGCCCTGCGAGGCCTCAGCTACCGCAGCCTGCGGCGGCGCGTGCGGCGGCTGCGGCGGCTTACGGCCCGCGAGGCGGACACCGCAGTGGCGGCGCTGCTCTGGGCAGCAGTGACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGGGCGCGCTGGGCCTGCTCTGGGGCTCGCTGTTCGGCGGCGGCCTGGTGGAGGGCGCCAAGAAGGTGACGGTGACCGAGCTCCTGGCAGGCATGCCCGACCCCACCAGCGACGAGGTGCACGGCGAGCAGCCGGCCGGGCCGGGCGGAGACGCAGACGGCGAGGGTGCCAGCGAGGGCGCTGGAGACGCCGCGGAGGGCGCTGGAGACGAGGAGGAGGCGGTGCACGAGGCCGGGCCGGGCGGTGCCGACGGGGCGGTGGCCGTGACCGATGGGGGCCCCTTCCGGCCCGAAGGGGCTGGCGGTCTCGGGGACATGGGGGACACGACGCCTGCGGAACCGCCCACACCCGAGGGCTCTCCCATCCTCAAGAGGAAATTGGGGGTGAGAGAGCAGGCGGGGTTTTGGGGTTTTGGAAAGATGGGGGATTGGAGGGAGGAAGAGAGCCCGGCTGGGTGGAGACACACACAGAGGAGAGAACTGGCTAGGGGGATGGGCACACGCACCCACGGAGGACGCACCCATGGAGGACGCACACGGGGACAGCGGGCGCCGGGCAAGAGAGACGCTCAGAGACAGAGGGATACTCAGACCCACAGAGAAAGAGACTCAGAGATGGAGACCTGGAGAAAGGGCCGGGGAGAGAGAGTGCAGGGCCGGACAGAGTGCAGGGCCGGACAGAGTGCAGGGCCCGGAGAGGTAGAGAAAATGATACCTGCAGAGCCAGAGAGAGTAAGAAACCCAGAGACCAAATTAGAGGGCAGGAAAGACCAAAACTAAGCCAGGCGCGGTGGCTTACACCTGTGATCCCAGCACTTTGGGAGGCCGAGGCGGGCCGATCACCTGAGGTCAGGAGTTTGAGACCATCCTGGCCACCGTGGTGGAACCCCGTCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGGTGTGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAGACCAAGACTAAAAAAAGTCCCGAGACAGGGTCAGGGCCACTAGGAAAAGACCCTCGGAGATACTCGTTGTGGGAATGAAGTACACCGTGGAGGAAGGGACCCCAAACATCCTCAGGCCCTTGGTGCTGGGAATGCCTTGGGAATGTGGAGGTCAAGGTGGTGGGAAGCCCTGGGGACAAGCAGAGCTGCACTTGGAGTCAGCCCGACCCTGCGCAGTGCTTTGGGCAAAGGGCTTCACCTCGATGAGCCTCAGTTTCCCCTCTGTAAAACGGGAATCATAATCTGCCTCTTTCTGGTGGAGGGAAGTGTAAAACTTAGATTACCCAGGGGAAATAAGAGAGAAAGGAGATGAGAGGAGCAGGCAGGCAGCCTGAGAAGCGCTTAGGGTGAGGACTCAGCCCTGATGCTTGCCCTGTCCCTAGGTGGATGGAGTGGAGGAGGAGCTCCCGCCAGAGCCAGAGCCCGAGCCGGAACCAGAGCTGGAGCCGGAGAAAGCCGAGTGAGTGGCCTTGGGGCTGAGGGGCCTAGCCCCTATCACTGCCTCCCTCCTAGAGTAGGAGCCTCCAGAGGTCAGGCCCCAAGGCTGTCCTGGCCACCCTGTGTCCTCGGCATCACCCAGCCCAGACTCAGGCACGGAGGAGGGGCTCTGAGTAAAAGAATCAAGAAATAAATGCTCCAACCTGGGCAACATAAAAAAAAAATTAAAATTAGCCAAGCATGGTGGTGTGTGGGGAGGCTGAGGTGGGAGGATCACTTGACCCCTGGAGGTGGAGGCTGCAGTGAGCCCTGATCGCAGCATTGCCCTCCAGCCTGGGTGACAGAGCAAGACCCTGTGTCGAAAAAGAAAAAAAAATATGGAGAGATAGAAAAATGAAAACT 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Task1_train_27099 | A mutation in RYR1 (ryanodine receptor 1), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; RYR1-related disorder | ACTAAAAATACAAAAAAAAAAAAAAAAAAAAATTAGCCAGCCATAGTGGTGCATGCCTGCAATTCCAGCTACTCAGGATGCTGAGGCATGAGAATCGCTTGAACCCAAGAGGCAGAAGTTTCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGCCTCAAACAAAGTGGTGGTGGGGGGCGGGGGGGCGGTGAGGGAATCATGTGGAACGAAGGTGGTTCCGTCAGAATTTGTGGGAAGAATGAGGGATGGAGGGAAAGGTGGAGAGAAAGAGGGAGAGATGGAAGATGTTCCTGGCCGTGCGAGGGGGCTCATGCCTGTAAGTCCAGTACTTTGGAAGTCCAAGGTAGGAGGATCACTGGAGCCCAGGAGTTTGGGGCAAGCCAGGGCAACATAGGGAGATCCCTGTCTCTACAAAAGAATTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGTTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGACTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCGCCGCCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCGTGTTAGCCAGAATGGCCTAGATCTGACCTTGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCGAATATTTTTAATCTTTTTTTTTTTTTAATTACTGCTCCTTGCAGAGCAGGGCTACCCTCTAGGCAGTGCACCCAGAGTAGCCAAAAATGTTTTTTTAATTAGCTGGGTGAGGTGACACATGCCTGTGGTCCCAGCTGTTCAGGAGGCTGAGGCGGGAGGATCACTTAAGCACAGGAGGTTGAGGCAGCAGTGAGCTATGGTTGTGTCACTTCACTCCAACCTGGGTGAGAGTAAGACCTTGACTCAAAAAAAAAAAAAATTCCCTTTCATCTTCTGTAAAGCAGGCAGGGCGACAGGTGGGGTGACCTCACTCAGGAAGCAGCATGGCCAAGTGGCTTGGAGCTTGGACTCTGGAGGCTGACTGCCCGGGTTCAAATCCCATCTCTGCCACTCGTTGGTTATGTTACCTTGAGCAAGACACCACTTCCCTGAGCCTCAGTTTCCTCATCTGTAAAGTGCGCATAACAGTAGTGCCCACTTCACAGGGGTGTACTGAGAATTAAACAAGCTCATGCAAATAAAGTTCTTAGCCCAGATGTTGGTATAAGCAAGCACTCAACAAATAGGAGGTTGAGGCCAGCCGAGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAGACCCCGTCTCTACTGAAAATACAAAAACTAACTGAGTGTGGTGGTGCATACCTGTAATCCCAGCTACTTAGGAGGCTGAGTCATGAGAATTTGAACCCGGTAGGCAGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCATTCGAGCCTGGGTGACAGAGTGAGACCTTGTCTCAAAAATAAATAAATAGGCTGGACGTGGTGGCTCAAGCCTGTAATCCCAGCACTTAGGCTGAGGAGGGCGGATCACGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACACAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCGGCAGCAGAGGAATTGCTTGAACCCGGGCGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGACTCTGTCTCAAAAATAATAATAATAATAATTAATAAATAAATAGGAGGTTGTAGGAAAGATATTGAGAGCCCAGGTACTTTGATTGCAGGTAAATGATGGGATGAATTCTCCAGGGAAGAGGCTGATCTGTGAGCGCTTTCTCTCTTTTTCTCTTCTCTCTCAGAACTACCTGTCCCGGAACTTTTACACCCTGCGGTTCCTTGCCCTCTTCTTGGCATTTGCCATCAACTTCATCTTGCTGTTTTATAAGGTGCTGGTCCTGAAGGGCTGGGAGGGTCAGGCCCTTTTCCATGCTGTGGGATGGGAGGCTCAGCCCCTATCAGAATTTCAGGGTTCCTCCACTGAAGGGATAAGGTATTGGGCTTTGGGTCGTTAGGAGGGTTCAGGCTGGACACCTGGATCCTGGGACCCCCCTCCATGGGGGTGAGTAGGGGATATCTGGATCCATCTGGGACAGAAGCCTGAGTGTCTGTGGGAGTTAGAGCAGGAGCAGGAGCTGAGTTCTCTGCTCAGCTCGGCCACATGCCAGTCCTGTGCGCCTGGGTGCAGGCCCTCAGCTCTTGGCAACACCCACTGATTCTGTTAAGCATCTTTGGTTTCACATAAGCTAAACAGAAGTTTGCAGGGAGGAAGAAATGGGCCACTCACAGAATGGAAGGAATGGGTTAAGAACCAGGCCTCCTGAAGGACAAAGGGACCCTTGGGGTCTTGCCAGGGGTCTAGATAACAGGACAGTAAGGTAGACTAGAGAGATCGAAGCATGGCTTCTGTGGGACCCAGAAGTCCCACAGTGGGACTGCCCACTGGCGCATGACGATAGGCAAGGTGCTTACCATCCCTGTGCCTCAACTCCCTCATCTGTAAAATGGAATACCTCTTAGAGCTGTGGGGATTGAAAGAGGATAAGGCACCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTGGATTACCTGAAGTCCGGAATTCAAGACCAGCCTGGCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCAGGCCTGGTGGCGGGCACCTGTAATCCAAGCTATGCAGGAGGCTGAGGCAGTAGAATCCCTTGAACCCAGGAGGCAAAGGTTGCAGTGAGCCGAGATTGCACCACTACACTCCAGCCTAGGTGACAAGAGTGAAACTCCGTCCACCCCACCAAAAAAAAGAGGATGAGTGTGTGTAAGGCAGTTAGAGCAACAGTACCTGGCATATAAAAAGCACTGTGTAAATGTTTAGCTGCTACTAATTTTCATGTTAGTGTTAATATTAGTGGGCAGTCTCTTTAGGGCTCCACTATCAAGATGAACCAACTCTGTCTTCAGTTCTGTGCCACTCAGTTCAATAGGCTAATTCCCAGGTCAGAGTCTGATTTGCTAGCTACAGCCCTAGGCCCAACCCTTGATCTTGATTGACAGCCACACCAAGACTGTATCTGGTATGGTCCCAGTCCAATCTCGGGAATGGAGGCTCAATTTTGTGAGTGGGCTCTGCATGTGGCAGACCCACAGATGAATCTCTGTCCCCATTTCAGGTCTCAGACTCTCCACCAGGGGAGGACGACATGGAAGGCTCAGCTGCTGGGGATGTGTCAGGTGCAGGCTCTGGTGGCAGCTCTGGCTGGGGCTTGGGGGCCGGAGAGGAGGCAGAGGGCGATGAGGATGAGAACATGGTGTACTACTTCCTGGAGGAAAGCACAGGCTACATGGAACCCGCCCTGCGGTGTCTGAGCCTCCTGCATACACTGGTGGCCTTTCTCTGCATCATTGGCTATAATTGTCTCAAGGTGGGCCCATGGCCATGGTTCTGGGGCAAGGGCTTATTGGCTGGGTGGGGGTGGGGGCAGTGCTGGAGCACTGGCTGGGGCTGGGGGCCCTCAAAGTGGTTGGGACAGAGGGGGCCTAGGGTTGGGGTGAGGGCTGGGGAACTGGGTACAGGATTGGGGTCTCCAGCAAGGATGACAGGGGTCTCCAGTAAGGACGACATTCAGATTGGGAACGGACACGGCTTATAGCTGAGGAACCAGGTTCTGGACCACTGTCTTGATACTTTGCTATTGAACTAGAGTTCTTTGGGCTTAAAACTTTCATACATGCTATTCCCTCTGCCTGCAATACTTTGCCCTGCTTCCACCTCCTTGCACCTGCCTGTTTTATTCATCCTTCAGTTCTGAGTTCAGACC 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ACTAAAAATACAAAAAAAAAAAAAAAAAAAAATTAGCCAGCCATAGTGGTGCATGCCTGCAATTCCAGCTACTCAGGATGCTGAGGCATGAGAATCGCTTGAACCCAAGAGGCAGAAGTTTCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGCCTCAAACAAAGTGGTGGTGGGGGGCGGGGGGGCGGTGAGGGAATCATGTGGAACGAAGGTGGTTCCGTCAGAATTTGTGGGAAGAATGAGGGATGGAGGGAAAGGTGGAGAGAAAGAGGGAGAGATGGAAGATGTTCCTGGCCGTGCGAGGGGGCTCATGCCTGTAAGTCCAGTACTTTGGAAGTCCAAGGTAGGAGGATCACTGGAGCCCAGGAGTTTGGGGCAAGCCAGGGCAACATAGGGAGATCCCTGTCTCTACAAAAGAATTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGTTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGACTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCGCCGCCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCGTGTTAGCCAGAATGGCCTAGATCTGACCTTGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCGAATATTTTTAATCTTTTTTTTTTTTTAATTACTGCTCCTTGCAGAGCAGGGCTACCCTCTAGGCAGTGCACCCAGAGTAGCCAAAAATGTTTTTTTAATTAGCTGGGTGAGGTGACACATGCCTGTGGTCCCAGCTGTTCAGGAGGCTGAGGCGGGAGGATCACTTAAGCACAGGAGGTTGAGGCAGCAGTGAGCTATGGTTGTGTCACTTCACTCCAACCTGGGTGAGAGTAAGACCTTGACTCAAAAAAAAAAAAAATTCCCTTTCATCTTCTGTAAAGCAGGCAGGGCGACAGGTGGGGTGACCTCACTCAGGAAGCAGCATGGCCAAGTGGCTTGGAGCTTGGACTCTGGAGGCTGACTGCCCGGGTTCAAATCCCATCTCTGCCACTCGTTGGTTATGTTACCTTGAGCAAGACACCACTTCCCTGAGCCTCAGTTTCCTCATCTGTAAAGTGCGCATAACAGTAGTGCCCACTTCACAGGGGTGTACTGAGAATTAAACAAGCTCATGCAAATAAAGTTCTTAGCCCAGATGTTGGTATAAGCAAGCACTCAACAAATAGGAGGTTGAGGCCAGCCGAGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAGACCCCGTCTCTACTGAAAATACAAAAACTAACTGAGTGTGGTGGTGCATACCTGTAATCCCAGCTACTTAGGAGGCTGAGTCATGAGAATTTGAACCCGGTAGGCAGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCATTCGAGCCTGGGTGACAGAGTGAGACCTTGTCTCAAAAATAAATAAATAGGCTGGACGTGGTGGCTCAAGCCTGTAATCCCAGCACTTAGGCTGAGGAGGGCGGATCACGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACACAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCGGCAGCAGAGGAATTGCTTGAACCCGGGCGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGACTCTGTCTCAAAAATAATAATAATAATAATTAATAAATAAATAGGAGGTTGTAGGAAAGATATTGAGAGCCCAGGTACTTTGATTGCAGGTAAATGATGGGATGAATTCTCCAGGGAAGAGGCTGATCTGTGAGCGCTTTCTCTCTTTTTCTCTTCTCTCTCAGAACTACCTGTCCGGGAACTTTTACACCCTGCGGTTCCTTGCCCTCTTCTTGGCATTTGCCATCAACTTCATCTTGCTGTTTTATAAGGTGCTGGTCCTGAAGGGCTGGGAGGGTCAGGCCCTTTTCCATGCTGTGGGATGGGAGGCTCAGCCCCTATCAGAATTTCAGGGTTCCTCCACTGAAGGGATAAGGTATTGGGCTTTGGGTCGTTAGGAGGGTTCAGGCTGGACACCTGGATCCTGGGACCCCCCTCCATGGGGGTGAGTAGGGGATATCTGGATCCATCTGGGACAGAAGCCTGAGTGTCTGTGGGAGTTAGAGCAGGAGCAGGAGCTGAGTTCTCTGCTCAGCTCGGCCACATGCCAGTCCTGTGCGCCTGGGTGCAGGCCCTCAGCTCTTGGCAACACCCACTGATTCTGTTAAGCATCTTTGGTTTCACATAAGCTAAACAGAAGTTTGCAGGGAGGAAGAAATGGGCCACTCACAGAATGGAAGGAATGGGTTAAGAACCAGGCCTCCTGAAGGACAAAGGGACCCTTGGGGTCTTGCCAGGGGTCTAGATAACAGGACAGTAAGGTAGACTAGAGAGATCGAAGCATGGCTTCTGTGGGACCCAGAAGTCCCACAGTGGGACTGCCCACTGGCGCATGACGATAGGCAAGGTGCTTACCATCCCTGTGCCTCAACTCCCTCATCTGTAAAATGGAATACCTCTTAGAGCTGTGGGGATTGAAAGAGGATAAGGCACCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTGGATTACCTGAAGTCCGGAATTCAAGACCAGCCTGGCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCAGGCCTGGTGGCGGGCACCTGTAATCCAAGCTATGCAGGAGGCTGAGGCAGTAGAATCCCTTGAACCCAGGAGGCAAAGGTTGCAGTGAGCCGAGATTGCACCACTACACTCCAGCCTAGGTGACAAGAGTGAAACTCCGTCCACCCCACCAAAAAAAAGAGGATGAGTGTGTGTAAGGCAGTTAGAGCAACAGTACCTGGCATATAAAAAGCACTGTGTAAATGTTTAGCTGCTACTAATTTTCATGTTAGTGTTAATATTAGTGGGCAGTCTCTTTAGGGCTCCACTATCAAGATGAACCAACTCTGTCTTCAGTTCTGTGCCACTCAGTTCAATAGGCTAATTCCCAGGTCAGAGTCTGATTTGCTAGCTACAGCCCTAGGCCCAACCCTTGATCTTGATTGACAGCCACACCAAGACTGTATCTGGTATGGTCCCAGTCCAATCTCGGGAATGGAGGCTCAATTTTGTGAGTGGGCTCTGCATGTGGCAGACCCACAGATGAATCTCTGTCCCCATTTCAGGTCTCAGACTCTCCACCAGGGGAGGACGACATGGAAGGCTCAGCTGCTGGGGATGTGTCAGGTGCAGGCTCTGGTGGCAGCTCTGGCTGGGGCTTGGGGGCCGGAGAGGAGGCAGAGGGCGATGAGGATGAGAACATGGTGTACTACTTCCTGGAGGAAAGCACAGGCTACATGGAACCCGCCCTGCGGTGTCTGAGCCTCCTGCATACACTGGTGGCCTTTCTCTGCATCATTGGCTATAATTGTCTCAAGGTGGGCCCATGGCCATGGTTCTGGGGCAAGGGCTTATTGGCTGGGTGGGGGTGGGGGCAGTGCTGGAGCACTGGCTGGGGCTGGGGGCCCTCAAAGTGGTTGGGACAGAGGGGGCCTAGGGTTGGGGTGAGGGCTGGGGAACTGGGTACAGGATTGGGGTCTCCAGCAAGGATGACAGGGGTCTCCAGTAAGGACGACATTCAGATTGGGAACGGACACGGCTTATAGCTGAGGAACCAGGTTCTGGACCACTGTCTTGATACTTTGCTATTGAACTAGAGTTCTTTGGGCTTAAAACTTTCATACATGCTATTCCCTCTGCCTGCAATACTTTGCCCTGCTTCCACCTCCTTGCACCTGCCTGTTTTATTCATCCTTCAGTTCTGAGTTCAGACC 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