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_26500 | A genetic alteration is present in LDLR (low density lipoprotein receptor) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hypercholesterolemia, familial, 1 | CCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCA 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CCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATTCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCA 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Task1_train_26501 | The following genetic variant occurs in LDLR (low density lipoprotein receptor) on Chromosome 19. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Familial hypercholesterolemia | ATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCC 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ATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCAGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCC 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Task1_train_26502 | Consider a variant on Chromosome 19 in gene LDLR (low density lipoprotein receptor). Determine its clinical classification and disease relevance. | Pathogenic; Familial hypercholesterolemia | TATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCC 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TATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGCGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCC 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Task1_train_26503 | Given a variant located on Chromosome 19 and affecting LDLR (low density lipoprotein receptor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Cardiovascular phenotype | TATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCC 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TATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGCGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCC 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Task1_train_26504 | A mutation in LDLR (low density lipoprotein receptor), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hypercholesterolemia, familial, 1 | AACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGC 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AACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCACGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGC 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Task1_train_26505 | A sequence alteration has been identified in LDLR (low density lipoprotein receptor) on Chromosome 19. Is it disease-inducing or harmless? | Pathogenic; Familial hypercholesterolemia | GAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAG 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GAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCTCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAG 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Task1_train_26506 | Here’s a variant in LDLR (low density lipoprotein receptor) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Familial hypercholesterolemia | AAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTG 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AAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTAACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTG 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Task1_train_26507 | This is a variant in LDLR (low density lipoprotein receptor), located on Chromosome 19. Is this mutation a likely cause of disease or not? | Pathogenic; Hypercholesterolemia, familial, 1 | AGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAAT 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AGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACTGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAAT 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Task1_train_26508 | This sequence variant lies in LDLR (low density lipoprotein receptor) on Chromosome 19. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hypercholesterolemia, familial, 1 | AAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCT 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AAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGCTGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCT 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Task1_train_26509 | This variant lies on Chromosome 19 and affects the gene LDLR (low density lipoprotein receptor). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hypercholesterolemia, familial, 1 | ATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTAC 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ATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCACTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTAC 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Task1_train_26510 | Given a variant located on Chromosome 19 and affecting LDLR (low density lipoprotein receptor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Hypercholesterolemia, familial, 1 | CAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACAC 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CAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACAGGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACAC 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Task1_train_26511 | A variant affecting Chromosome 19, within the gene LDLR (low density lipoprotein receptor), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hypercholesterolemia, familial, 1 | ACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTAT 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ACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAACCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTAT 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Task1_train_26512 | Given this context: Chromosome 19, gene LDLR (low density lipoprotein receptor) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hypercholesterolemia, familial, 1 | ACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGA 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ACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCAAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGA 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Task1_train_26513 | Here is a genetic alteration in LDLR (low density lipoprotein receptor) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Hypercholesterolemia, familial, 1 | TGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTG 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TGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCTCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTG 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Task1_train_26514 | A variant was discovered on Chromosome 19, affecting LDLR (low density lipoprotein receptor). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Hypercholesterolemia, familial, 1 | GAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTG 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GAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACAGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTG 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Task1_train_26515 | A variant was discovered in gene LDLR (low density lipoprotein receptor), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hypercholesterolemia, familial, 1 | CTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGT 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CTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCAGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGT 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Task1_train_26516 | This alteration occurs within gene LDLR (low density lipoprotein receptor) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; Familial hypercholesterolemia | GAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGT 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GAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGTTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGT 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Task1_train_26517 | A variant affecting Chromosome 19, within the gene LDLR (low density lipoprotein receptor), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hypercholesterolemia, familial, 1 | TACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATA 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TACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTTGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATA 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Task1_train_26518 | The gene LDLR (low density lipoprotein receptor) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Hypercholesterolemia, familial, 1 | ACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAG 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ACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGCATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAG 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Task1_train_26519 | Here is a mutation in LDLR (low density lipoprotein receptor) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Hypercholesterolemia, familial, 1 | GGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTC 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GGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTTGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTC 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Task1_train_26520 | This mutation occurs in LDLR (low density lipoprotein receptor) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hypercholesterolemia, familial, 1 | GGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGG 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GGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAACAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGG 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Task1_train_26521 | A genetic alteration is present in LDLR (low density lipoprotein receptor) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hypercholesterolemia, familial, 1 | CCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAA 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CCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTTCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAA 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Task1_train_26522 | Here’s a variant in LDLR (low density lipoprotein receptor) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hypercholesterolemia, familial, 1 | CCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATG 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CCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGAACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATG 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Task1_train_26523 | Consider a variant on Chromosome 19 in gene LDLR (low density lipoprotein receptor). Determine its clinical classification and disease relevance. | Pathogenic; Cardiovascular phenotype | AGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTG 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AGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACAGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTG 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Task1_train_26524 | This sequence variant lies in LDLR (low density lipoprotein receptor) on Chromosome 19. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hypercholesterolemia, familial, 1 | CCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGG 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CCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTAACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGG 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Task1_train_26525 | This alteration occurs within gene LDLR (low density lipoprotein receptor) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; Hypercholesterolemia, familial, 1 | GCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCC 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GCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCACCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCC 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Task1_train_26526 | A variant was discovered in gene LDLR (low density lipoprotein receptor), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hypercholesterolemia, familial, 1 | ACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTG 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ACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCACTGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTG 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Task1_train_26527 | Given this variant in gene LDLR (low density lipoprotein receptor) on Chromosome 19, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Familial hypercholesterolemia | GAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCT 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GAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACAGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCT 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Task1_train_26528 | A variant has been detected on Chromosome 19 in LDLR (low density lipoprotein receptor). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hypercholesterolemia, familial, 1 | AGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGG 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AGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGTCTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGG 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Task1_train_26529 | This gene mutation involves LDLR (low density lipoprotein receptor) on Chromosome 19. Is it associated with any clinical condition, or is it benign? | Pathogenic; LDLR-related disorder | CTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA 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CTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAATCTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA 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Task1_train_26530 | This variant affects the gene LDLR (low density lipoprotein receptor) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hypercholesterolemia, familial, 1 | ATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGA 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ATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGAGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGA 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Task1_train_26531 | This mutation occurs in LDLR (low density lipoprotein receptor) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hypercholesterolemia, familial, 1 | TCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG 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TCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACTGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG 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Task1_train_26532 | This variant lies on Chromosome 19 and affects the gene LDLR (low density lipoprotein receptor). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hypercholesterolemia, familial, 1 | CACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT 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CACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCAGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT 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Task1_train_26533 | A variant found in Chromosome 19 affects LDLR (low density lipoprotein receptor). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Hypercholesterolemia, familial, 1 | TCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGT 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TCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCGACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGT 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Task1_train_26534 | This mutation is located in gene LDLR (low density lipoprotein receptor) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hypercholesterolemia, familial, 1 | GGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCT 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GGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCAACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCT 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Task1_train_26535 | This variant lies on Chromosome 19 and affects the gene LDLR (low density lipoprotein receptor). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hypercholesterolemia, familial, 1 | TTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTT 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TTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGCAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTT 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Task1_train_26536 | This mutation occurs in LDLR (low density lipoprotein receptor) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hypercholesterolemia, familial, 1 | ATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCA 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ATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCTGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCA 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Task1_train_26537 | Given this variant in gene LDLR (low density lipoprotein receptor) on Chromosome 19, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hypercholesterolemia, familial, 1 | CATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCT 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CATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGGCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCT 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Task1_train_26538 | The following genetic variant occurs in LDLR (low density lipoprotein receptor) on Chromosome 19. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hypercholesterolemia, familial, 1 | ATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTC 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ATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCTTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTC 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Task1_train_26539 | This alteration occurs within gene LDLR (low density lipoprotein receptor) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; Hypercholesterolemia, familial, 1 | GCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGGGCCCGCCACCACACTC 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GCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCGGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGGGCCCGCCACCACACTC 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Task1_train_26540 | Chromosome 19 houses a mutation in gene LDLR (low density lipoprotein receptor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Familial hypercholesterolemia | GCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTCCTCTGCCTGCTCCATTTCTTGGTGGCCTTCCTTTAGACCTGGGCCTCACTCTTGCTTCTCTCCTGCAGCTCTGGGCGACGTTGCTGGCAGAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCGTCCCCCAGGTCACAGCCTCCCGCTATGTGACCTCGTGCCTGGCTGGTTGGGCCTGTTCACTTTTTCTCCTGGACAGGGAACAGCCCCACTGGTGTCCTTTATCACCCCCACGGCCTCTCCTGGCTTGGGGCTGACAGTGACAAGATCAGACAGCTAAGGGGTCAGATGGAGGATGTGGAGCTGGGTCCCGTGCTGTGGAATAGCCTCACCGAGATTTGAGTGCCTTCTGGGGAACTGGTTCCCTTGCAGGGGGCTGTGTGGAGAGGCGCGCTCTCCCTGCCTCACCCATGCTCATCCTAACTCGGTTACCATCACATCTCTTTTTTCTTTTTTTCTTAAATTTTAAGAAAAAAGAAATTTAATTTTTTTGAGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCATGCCTCGCTGCAGCCTCAATGTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTGCAAGCCACTATACCCCACTTCCTATTTCTTAAAAAGTCACAGCCCTGTGTGTGGCTAATCCTGGACAGAAATCTAGAAGAAGTCAGCTACTTCTGGGGCGTGGCTCACCCAGTGGGCTTCAGGTTAGATATTTCTTATACTTATGAGGCTGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGTGGATTGCTTGGGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCGAAACCCTGTTTCTAGAAAAGGTACAAAAATTAGCTGGGCAGGTGGCACGTGCCTGTGGTACCAGCTACTTGAGGGCCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTCGAGGTTGCAGTGAACTGAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAAAAAGAAAGAAAAAAATTCTTATGCATAGATTTGCCTCTTTTCTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCAACCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGACTGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGGCCGCAAGGCGATCTCTAAACAAACATAAAAGACCAGGAGTCAAGGTTATGGTACGATGCCCGTGTTTTCACTCCAGCCACGGAGCTGGGTCTCTGGTCTCGGGGGCAGCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGCTCCTCGTCTTCCTTTGCCTGGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTGACAACCCCGTCTATCAGAAGACCACAGAGGATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCCATGGCGGCCCCCTCCCAGCTGGAGGCATATGATCCTCAAGGGACCAGGCCGAGGCTTCCCCAGCCCTCCAGATCGAGGACAGCATTAGGTGAATGCTTCTGTGCGCTCATTCAGAATGTCAGCGGACAATGGCCTTGGTGGTGTAGAGGAATGTTGGATAAGCAAATAGAGAGCTCCATCAGATGGTGACAGGGCAAAGAAAGTCAAAAGGAGTTCAGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCTTGGCCATCATGACAAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGGAGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGAAAAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCCGGGAGGCAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGAGTTCAGAGGCCCGGCATGGTGGTTCACACATGTGATCCCAGAACTTGGGGAGGTTGAGGCAGGAGAATCACCTGAGCTCAGAGTTCAAGACCAGCCTGGGCAGCACAGCAAGACCCCATCTCTGCAAAAAATAAAAATTTAGCCCAGTGTGGTGATGAGCGCCTAGTTCCAGCTACTAGGGAGGCTAAGGCAGGAGGATTGCTTGAGGCTAAGGTAGGAGATTGAGACTGCAGTGACTTGTGATTGCGTCACTGCGCTCCAGCCTGGGTGACAGAGCAAGCCCTTGTCTCTTAAAAAAAAAAAAAAATTCAAAGAAGGGTTTCCAGAGGGCCAGGAGGGAGGAAGGGAGAGGAGGTGTTTTATTTTTTTGCTTTTATTTTTTATTTTGAGACAGAGTCTCTCTCTGTCACCCAGGTTGGAGTGCAGTGCTGTGATCTTGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAATTCTTATGCCTCAGCCTCAGCCTCCTGAGTAGCTGGGATTACAACACTATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCCACGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCGCCTTGATCTTTACACAAGGGGTTTAGGGTAGGTAGCCTTCTCTGAACCAGGAGAACAGCCTGTGCGAAGGCCCTGAGGCTGGACCGTGCCTGTTGGGTTTGAGGCCGTTGTAGCTGGAGCAAACAGAGAGAGGGGTAAAAAGGCAGGAGGCTACCAGGCAGGTTGTGCAGAGCCTTGTGGGCCACTGGGGAGGACTTTGGCTTTTGCCCTGAGAGCGGTGGGAAGTGACTGAATCCGGTACTCACCGTCTCCCTCTGGCGGCTCCTGGGGGAACATGCTTGGGGATCAGGCTGGGGGAGGCTGCCAGGCCCAGGAGGTGAGAAGTAGGTGGCCTCCAGCCGTGTTTCCTGAATGCTGGACTGATAGTTTCCGCTGTTTACCATTTGTTGGCAGAGACAGATGGTCAGTCTGGAGGATGACGTGGCGTGAACATCTGCCTGGAGTCCCGTCCCTGCCCAGAACCCTTCCTGAGACCTCGCCGGCCTTGTTTTATTCAAAGACAGAGAAGACCAAAGCATTGCCTGCCAGAGCTTTGTTTTATATATTTATTCATCTGGGAGGCAGAACAGGCTTCGGACAGTGCCCATGCAATGGCTTGGGTTGGGATTTTGGTTTCTTCCTTTCCTCGTGAAGGATAAGAGAAACAGGCCCGGGGGGACCAGGATGACACCTCCATTTCTCTCCAGGAAGTTTTGA 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GCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTCCTCTGCCTGCTCCATTTCTTGGTGGCCTTCCTTTAGACCTGGGCCTCACTCTTGCTTCTCTCCTGCAGCTCTGGGCGACGTTGCTGGCAGAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCGTCCCCCAGGTCACAGCCTCCCGCTATGTGACCTCGTGCCTGGCTGGTTGGGCCTGTTCACTTTTTCTCCTGGACAGGGAACAGCCCCACTGGTGTCCTTTATCACCCCCACGGCCTCTCCTGGCTTGGGGCTGACAGTGACAAGATCAGACAGCTAAGGGGTCAGATGGAGGATGTGGAGCTGGGTCCCGTGCTGTGGAATAGCCTCACCGAGATTTGAGTGCCTTCTGGGGAACTGGTTCCCTTGCAGGGGGCTGTGTGGAGAGGCGCGCTCTCCCTGCCTCACCCATGCTCATCCTAACTCGGTTACCATCACATCTCTTTTTTCTTTTTTTCTTAAATTTTAAGAAAAAAGAAATTTAATTTTTTTGAGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCATGCCTCGCTGCAGCCTCAATGTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTGCAAGCCACTATACCCCACTTCCTATTTCTTAAAAAGTCACAGCCCTGTGTGTGGCTAATCCTGGACAGAAATCTAGAAGAAGTCAGCTACTTCTGGGGCGTGGCTCACCCAGTGGGCTTCAGGTTAGATATTTCTTATACTTATGAGGCTGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGTGGATTGCTTGGGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCGAAACCCTGTTTCTAGAAAAGGTACAAAAATTAGCTGGGCAGGTGGCACGTGCCTGTGGTACCAGCTACTTGAGGGCCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTCGAGGTTGCAGTGAACTGAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAAAAAGAAAGAAAAAAATTCTTATGCATAGATTTGCCTCTTTTCTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCAACCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGACTGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGGCCGCAAGGCGATCTCTAAACAAACATAAAAGACCAGGAGTCAAGGTTATGGTACGATGCCCGTGTTTTCACTCCAGCCACGGAGCTGGGTCTCTGGTCTCGGGGGCAGCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGCTCCTCGTCTTCCTTTGCCTGCGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTGACAACCCCGTCTATCAGAAGACCACAGAGGATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCCATGGCGGCCCCCTCCCAGCTGGAGGCATATGATCCTCAAGGGACCAGGCCGAGGCTTCCCCAGCCCTCCAGATCGAGGACAGCATTAGGTGAATGCTTCTGTGCGCTCATTCAGAATGTCAGCGGACAATGGCCTTGGTGGTGTAGAGGAATGTTGGATAAGCAAATAGAGAGCTCCATCAGATGGTGACAGGGCAAAGAAAGTCAAAAGGAGTTCAGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCTTGGCCATCATGACAAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGGAGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGAAAAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCCGGGAGGCAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGAGTTCAGAGGCCCGGCATGGTGGTTCACACATGTGATCCCAGAACTTGGGGAGGTTGAGGCAGGAGAATCACCTGAGCTCAGAGTTCAAGACCAGCCTGGGCAGCACAGCAAGACCCCATCTCTGCAAAAAATAAAAATTTAGCCCAGTGTGGTGATGAGCGCCTAGTTCCAGCTACTAGGGAGGCTAAGGCAGGAGGATTGCTTGAGGCTAAGGTAGGAGATTGAGACTGCAGTGACTTGTGATTGCGTCACTGCGCTCCAGCCTGGGTGACAGAGCAAGCCCTTGTCTCTTAAAAAAAAAAAAAAATTCAAAGAAGGGTTTCCAGAGGGCCAGGAGGGAGGAAGGGAGAGGAGGTGTTTTATTTTTTTGCTTTTATTTTTTATTTTGAGACAGAGTCTCTCTCTGTCACCCAGGTTGGAGTGCAGTGCTGTGATCTTGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAATTCTTATGCCTCAGCCTCAGCCTCCTGAGTAGCTGGGATTACAACACTATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCCACGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCGCCTTGATCTTTACACAAGGGGTTTAGGGTAGGTAGCCTTCTCTGAACCAGGAGAACAGCCTGTGCGAAGGCCCTGAGGCTGGACCGTGCCTGTTGGGTTTGAGGCCGTTGTAGCTGGAGCAAACAGAGAGAGGGGTAAAAAGGCAGGAGGCTACCAGGCAGGTTGTGCAGAGCCTTGTGGGCCACTGGGGAGGACTTTGGCTTTTGCCCTGAGAGCGGTGGGAAGTGACTGAATCCGGTACTCACCGTCTCCCTCTGGCGGCTCCTGGGGGAACATGCTTGGGGATCAGGCTGGGGGAGGCTGCCAGGCCCAGGAGGTGAGAAGTAGGTGGCCTCCAGCCGTGTTTCCTGAATGCTGGACTGATAGTTTCCGCTGTTTACCATTTGTTGGCAGAGACAGATGGTCAGTCTGGAGGATGACGTGGCGTGAACATCTGCCTGGAGTCCCGTCCCTGCCCAGAACCCTTCCTGAGACCTCGCCGGCCTTGTTTTATTCAAAGACAGAGAAGACCAAAGCATTGCCTGCCAGAGCTTTGTTTTATATATTTATTCATCTGGGAGGCAGAACAGGCTTCGGACAGTGCCCATGCAATGGCTTGGGTTGGGATTTTGGTTTCTTCCTTTCCTCGTGAAGGATAAGAGAAACAGGCCCGGGGGGACCAGGATGACACCTCCATTTCTCTCCAGGAAGTTTTGA 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Task1_train_26541 | This mutation occurs in LDLR (low density lipoprotein receptor) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hypercholesterolemia, familial, 1 | AGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTCCTCTGCCTGCTCCATTTCTTGGTGGCCTTCCTTTAGACCTGGGCCTCACTCTTGCTTCTCTCCTGCAGCTCTGGGCGACGTTGCTGGCAGAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCGTCCCCCAGGTCACAGCCTCCCGCTATGTGACCTCGTGCCTGGCTGGTTGGGCCTGTTCACTTTTTCTCCTGGACAGGGAACAGCCCCACTGGTGTCCTTTATCACCCCCACGGCCTCTCCTGGCTTGGGGCTGACAGTGACAAGATCAGACAGCTAAGGGGTCAGATGGAGGATGTGGAGCTGGGTCCCGTGCTGTGGAATAGCCTCACCGAGATTTGAGTGCCTTCTGGGGAACTGGTTCCCTTGCAGGGGGCTGTGTGGAGAGGCGCGCTCTCCCTGCCTCACCCATGCTCATCCTAACTCGGTTACCATCACATCTCTTTTTTCTTTTTTTCTTAAATTTTAAGAAAAAAGAAATTTAATTTTTTTGAGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCATGCCTCGCTGCAGCCTCAATGTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTGCAAGCCACTATACCCCACTTCCTATTTCTTAAAAAGTCACAGCCCTGTGTGTGGCTAATCCTGGACAGAAATCTAGAAGAAGTCAGCTACTTCTGGGGCGTGGCTCACCCAGTGGGCTTCAGGTTAGATATTTCTTATACTTATGAGGCTGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGTGGATTGCTTGGGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCGAAACCCTGTTTCTAGAAAAGGTACAAAAATTAGCTGGGCAGGTGGCACGTGCCTGTGGTACCAGCTACTTGAGGGCCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTCGAGGTTGCAGTGAACTGAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAAAAAGAAAGAAAAAAATTCTTATGCATAGATTTGCCTCTTTTCTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCAACCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGACTGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGGCCGCAAGGCGATCTCTAAACAAACATAAAAGACCAGGAGTCAAGGTTATGGTACGATGCCCGTGTTTTCACTCCAGCCACGGAGCTGGGTCTCTGGTCTCGGGGGCAGCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGCTCCTCGTCTTCCTTTGCCTGGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTGACAACCCCGTCTATCAGAAGACCACAGAGGATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCCATGGCGGCCCCCTCCCAGCTGGAGGCATATGATCCTCAAGGGACCAGGCCGAGGCTTCCCCAGCCCTCCAGATCGAGGACAGCATTAGGTGAATGCTTCTGTGCGCTCATTCAGAATGTCAGCGGACAATGGCCTTGGTGGTGTAGAGGAATGTTGGATAAGCAAATAGAGAGCTCCATCAGATGGTGACAGGGCAAAGAAAGTCAAAAGGAGTTCAGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCTTGGCCATCATGACAAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGGAGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGAAAAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCCGGGAGGCAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGAGTTCAGAGGCCCGGCATGGTGGTTCACACATGTGATCCCAGAACTTGGGGAGGTTGAGGCAGGAGAATCACCTGAGCTCAGAGTTCAAGACCAGCCTGGGCAGCACAGCAAGACCCCATCTCTGCAAAAAATAAAAATTTAGCCCAGTGTGGTGATGAGCGCCTAGTTCCAGCTACTAGGGAGGCTAAGGCAGGAGGATTGCTTGAGGCTAAGGTAGGAGATTGAGACTGCAGTGACTTGTGATTGCGTCACTGCGCTCCAGCCTGGGTGACAGAGCAAGCCCTTGTCTCTTAAAAAAAAAAAAAAATTCAAAGAAGGGTTTCCAGAGGGCCAGGAGGGAGGAAGGGAGAGGAGGTGTTTTATTTTTTTGCTTTTATTTTTTATTTTGAGACAGAGTCTCTCTCTGTCACCCAGGTTGGAGTGCAGTGCTGTGATCTTGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAATTCTTATGCCTCAGCCTCAGCCTCCTGAGTAGCTGGGATTACAACACTATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCCACGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCGCCTTGATCTTTACACAAGGGGTTTAGGGTAGGTAGCCTTCTCTGAACCAGGAGAACAGCCTGTGCGAAGGCCCTGAGGCTGGACCGTGCCTGTTGGGTTTGAGGCCGTTGTAGCTGGAGCAAACAGAGAGAGGGGTAAAAAGGCAGGAGGCTACCAGGCAGGTTGTGCAGAGCCTTGTGGGCCACTGGGGAGGACTTTGGCTTTTGCCCTGAGAGCGGTGGGAAGTGACTGAATCCGGTACTCACCGTCTCCCTCTGGCGGCTCCTGGGGGAACATGCTTGGGGATCAGGCTGGGGGAGGCTGCCAGGCCCAGGAGGTGAGAAGTAGGTGGCCTCCAGCCGTGTTTCCTGAATGCTGGACTGATAGTTTCCGCTGTTTACCATTTGTTGGCAGAGACAGATGGTCAGTCTGGAGGATGACGTGGCGTGAACATCTGCCTGGAGTCCCGTCCCTGCCCAGAACCCTTCCTGAGACCTCGCCGGCCTTGTTTTATTCAAAGACAGAGAAGACCAAAGCATTGCCTGCCAGAGCTTTGTTTTATATATTTATTCATCTGGGAGGCAGAACAGGCTTCGGACAGTGCCCATGCAATGGCTTGGGTTGGGATTTTGGTTTCTTCCTTTCCTCGTGAAGGATAAGAGAAACAGGCCCGGGGGGACCAGGATGACACCTCCATTTCTCTCCAGGAAGTTTTGAGTTTCTCTC 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AGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTCCTCTGCCTGCTCCATTTCTTGGTGGCCTTCCTTTAGACCTGGGCCTCACTCTTGCTTCTCTCCTGCAGCTCTGGGCGACGTTGCTGGCAGAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCGTCCCCCAGGTCACAGCCTCCCGCTATGTGACCTCGTGCCTGGCTGGTTGGGCCTGTTCACTTTTTCTCCTGGACAGGGAACAGCCCCACTGGTGTCCTTTATCACCCCCACGGCCTCTCCTGGCTTGGGGCTGACAGTGACAAGATCAGACAGCTAAGGGGTCAGATGGAGGATGTGGAGCTGGGTCCCGTGCTGTGGAATAGCCTCACCGAGATTTGAGTGCCTTCTGGGGAACTGGTTCCCTTGCAGGGGGCTGTGTGGAGAGGCGCGCTCTCCCTGCCTCACCCATGCTCATCCTAACTCGGTTACCATCACATCTCTTTTTTCTTTTTTTCTTAAATTTTAAGAAAAAAGAAATTTAATTTTTTTGAGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCATGCCTCGCTGCAGCCTCAATGTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTGCAAGCCACTATACCCCACTTCCTATTTCTTAAAAAGTCACAGCCCTGTGTGTGGCTAATCCTGGACAGAAATCTAGAAGAAGTCAGCTACTTCTGGGGCGTGGCTCACCCAGTGGGCTTCAGGTTAGATATTTCTTATACTTATGAGGCTGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGTGGATTGCTTGGGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCGAAACCCTGTTTCTAGAAAAGGTACAAAAATTAGCTGGGCAGGTGGCACGTGCCTGTGGTACCAGCTACTTGAGGGCCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTCGAGGTTGCAGTGAACTGAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAAAAAGAAAGAAAAAAATTCTTATGCATAGATTTGCCTCTTTTCTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCAACCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGACTGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGGCCGCAAGGCGATCTCTAAACAAACATAAAAGACCAGGAGTCAAGGTTATGGTACGATGCCCGTGTTTTCACTCCAGCCACGGAGCTGGGTCTCTGGTCTCGGGGGCAGCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGCTCCTCGTCTTCCTTTGCCTGGGGGTCTTCGTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTGACAACCCCGTCTATCAGAAGACCACAGAGGATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCCATGGCGGCCCCCTCCCAGCTGGAGGCATATGATCCTCAAGGGACCAGGCCGAGGCTTCCCCAGCCCTCCAGATCGAGGACAGCATTAGGTGAATGCTTCTGTGCGCTCATTCAGAATGTCAGCGGACAATGGCCTTGGTGGTGTAGAGGAATGTTGGATAAGCAAATAGAGAGCTCCATCAGATGGTGACAGGGCAAAGAAAGTCAAAAGGAGTTCAGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCTTGGCCATCATGACAAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGGAGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGAAAAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCCGGGAGGCAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGAGTTCAGAGGCCCGGCATGGTGGTTCACACATGTGATCCCAGAACTTGGGGAGGTTGAGGCAGGAGAATCACCTGAGCTCAGAGTTCAAGACCAGCCTGGGCAGCACAGCAAGACCCCATCTCTGCAAAAAATAAAAATTTAGCCCAGTGTGGTGATGAGCGCCTAGTTCCAGCTACTAGGGAGGCTAAGGCAGGAGGATTGCTTGAGGCTAAGGTAGGAGATTGAGACTGCAGTGACTTGTGATTGCGTCACTGCGCTCCAGCCTGGGTGACAGAGCAAGCCCTTGTCTCTTAAAAAAAAAAAAAAATTCAAAGAAGGGTTTCCAGAGGGCCAGGAGGGAGGAAGGGAGAGGAGGTGTTTTATTTTTTTGCTTTTATTTTTTATTTTGAGACAGAGTCTCTCTCTGTCACCCAGGTTGGAGTGCAGTGCTGTGATCTTGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAATTCTTATGCCTCAGCCTCAGCCTCCTGAGTAGCTGGGATTACAACACTATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCCACGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCGCCTTGATCTTTACACAAGGGGTTTAGGGTAGGTAGCCTTCTCTGAACCAGGAGAACAGCCTGTGCGAAGGCCCTGAGGCTGGACCGTGCCTGTTGGGTTTGAGGCCGTTGTAGCTGGAGCAAACAGAGAGAGGGGTAAAAAGGCAGGAGGCTACCAGGCAGGTTGTGCAGAGCCTTGTGGGCCACTGGGGAGGACTTTGGCTTTTGCCCTGAGAGCGGTGGGAAGTGACTGAATCCGGTACTCACCGTCTCCCTCTGGCGGCTCCTGGGGGAACATGCTTGGGGATCAGGCTGGGGGAGGCTGCCAGGCCCAGGAGGTGAGAAGTAGGTGGCCTCCAGCCGTGTTTCCTGAATGCTGGACTGATAGTTTCCGCTGTTTACCATTTGTTGGCAGAGACAGATGGTCAGTCTGGAGGATGACGTGGCGTGAACATCTGCCTGGAGTCCCGTCCCTGCCCAGAACCCTTCCTGAGACCTCGCCGGCCTTGTTTTATTCAAAGACAGAGAAGACCAAAGCATTGCCTGCCAGAGCTTTGTTTTATATATTTATTCATCTGGGAGGCAGAACAGGCTTCGGACAGTGCCCATGCAATGGCTTGGGTTGGGATTTTGGTTTCTTCCTTTCCTCGTGAAGGATAAGAGAAACAGGCCCGGGGGGACCAGGATGACACCTCCATTTCTCTCCAGGAAGTTTTGAGTTTCTCTC 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Task1_train_26542 | A variant was discovered on Chromosome 19, affecting LDLR (low density lipoprotein receptor). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Hypercholesterolemia, familial, 1 | TAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTCCTCTGCCTGCTCCATTTCTTGGTGGCCTTCCTTTAGACCTGGGCCTCACTCTTGCTTCTCTCCTGCAGCTCTGGGCGACGTTGCTGGCAGAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCGTCCCCCAGGTCACAGCCTCCCGCTATGTGACCTCGTGCCTGGCTGGTTGGGCCTGTTCACTTTTTCTCCTGGACAGGGAACAGCCCCACTGGTGTCCTTTATCACCCCCACGGCCTCTCCTGGCTTGGGGCTGACAGTGACAAGATCAGACAGCTAAGGGGTCAGATGGAGGATGTGGAGCTGGGTCCCGTGCTGTGGAATAGCCTCACCGAGATTTGAGTGCCTTCTGGGGAACTGGTTCCCTTGCAGGGGGCTGTGTGGAGAGGCGCGCTCTCCCTGCCTCACCCATGCTCATCCTAACTCGGTTACCATCACATCTCTTTTTTCTTTTTTTCTTAAATTTTAAGAAAAAAGAAATTTAATTTTTTTGAGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCATGCCTCGCTGCAGCCTCAATGTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTGCAAGCCACTATACCCCACTTCCTATTTCTTAAAAAGTCACAGCCCTGTGTGTGGCTAATCCTGGACAGAAATCTAGAAGAAGTCAGCTACTTCTGGGGCGTGGCTCACCCAGTGGGCTTCAGGTTAGATATTTCTTATACTTATGAGGCTGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGTGGATTGCTTGGGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCGAAACCCTGTTTCTAGAAAAGGTACAAAAATTAGCTGGGCAGGTGGCACGTGCCTGTGGTACCAGCTACTTGAGGGCCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTCGAGGTTGCAGTGAACTGAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAAAAAGAAAGAAAAAAATTCTTATGCATAGATTTGCCTCTTTTCTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCAACCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGACTGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGGCCGCAAGGCGATCTCTAAACAAACATAAAAGACCAGGAGTCAAGGTTATGGTACGATGCCCGTGTTTTCACTCCAGCCACGGAGCTGGGTCTCTGGTCTCGGGGGCAGCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGCTCCTCGTCTTCCTTTGCCTGGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTGACAACCCCGTCTATCAGAAGACCACAGAGGATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCCATGGCGGCCCCCTCCCAGCTGGAGGCATATGATCCTCAAGGGACCAGGCCGAGGCTTCCCCAGCCCTCCAGATCGAGGACAGCATTAGGTGAATGCTTCTGTGCGCTCATTCAGAATGTCAGCGGACAATGGCCTTGGTGGTGTAGAGGAATGTTGGATAAGCAAATAGAGAGCTCCATCAGATGGTGACAGGGCAAAGAAAGTCAAAAGGAGTTCAGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCTTGGCCATCATGACAAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGGAGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGAAAAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCCGGGAGGCAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGAGTTCAGAGGCCCGGCATGGTGGTTCACACATGTGATCCCAGAACTTGGGGAGGTTGAGGCAGGAGAATCACCTGAGCTCAGAGTTCAAGACCAGCCTGGGCAGCACAGCAAGACCCCATCTCTGCAAAAAATAAAAATTTAGCCCAGTGTGGTGATGAGCGCCTAGTTCCAGCTACTAGGGAGGCTAAGGCAGGAGGATTGCTTGAGGCTAAGGTAGGAGATTGAGACTGCAGTGACTTGTGATTGCGTCACTGCGCTCCAGCCTGGGTGACAGAGCAAGCCCTTGTCTCTTAAAAAAAAAAAAAAATTCAAAGAAGGGTTTCCAGAGGGCCAGGAGGGAGGAAGGGAGAGGAGGTGTTTTATTTTTTTGCTTTTATTTTTTATTTTGAGACAGAGTCTCTCTCTGTCACCCAGGTTGGAGTGCAGTGCTGTGATCTTGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAATTCTTATGCCTCAGCCTCAGCCTCCTGAGTAGCTGGGATTACAACACTATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCCACGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCGCCTTGATCTTTACACAAGGGGTTTAGGGTAGGTAGCCTTCTCTGAACCAGGAGAACAGCCTGTGCGAAGGCCCTGAGGCTGGACCGTGCCTGTTGGGTTTGAGGCCGTTGTAGCTGGAGCAAACAGAGAGAGGGGTAAAAAGGCAGGAGGCTACCAGGCAGGTTGTGCAGAGCCTTGTGGGCCACTGGGGAGGACTTTGGCTTTTGCCCTGAGAGCGGTGGGAAGTGACTGAATCCGGTACTCACCGTCTCCCTCTGGCGGCTCCTGGGGGAACATGCTTGGGGATCAGGCTGGGGGAGGCTGCCAGGCCCAGGAGGTGAGAAGTAGGTGGCCTCCAGCCGTGTTTCCTGAATGCTGGACTGATAGTTTCCGCTGTTTACCATTTGTTGGCAGAGACAGATGGTCAGTCTGGAGGATGACGTGGCGTGAACATCTGCCTGGAGTCCCGTCCCTGCCCAGAACCCTTCCTGAGACCTCGCCGGCCTTGTTTTATTCAAAGACAGAGAAGACCAAAGCATTGCCTGCCAGAGCTTTGTTTTATATATTTATTCATCTGGGAGGCAGAACAGGCTTCGGACAGTGCCCATGCAATGGCTTGGGTTGGGATTTTGGTTTCTTCCTTTCCTCGTGAAGGATAAGAGAAACAGGCCCGGGGGGACCAGGATGACACCTCCATTTCTCTCCAGGAAGTTTTGAGTTTCTCTCCACCGTGACACAATCCTCAAACATGGAAGATGAAAGGGGAGGGGATGTCAGGCC 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TAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTCCTCTGCCTGCTCCATTTCTTGGTGGCCTTCCTTTAGACCTGGGCCTCACTCTTGCTTCTCTCCTGCAGCTCTGGGCGACGTTGCTGGCAGAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCGTCCCCCAGGTCACAGCCTCCCGCTATGTGACCTCGTGCCTGGCTGGTTGGGCCTGTTCACTTTTTCTCCTGGACAGGGAACAGCCCCACTGGTGTCCTTTATCACCCCCACGGCCTCTCCTGGCTTGGGGCTGACAGTGACAAGATCAGACAGCTAAGGGGTCAGATGGAGGATGTGGAGCTGGGTCCCGTGCTGTGGAATAGCCTCACCGAGATTTGAGTGCCTTCTGGGGAACTGGTTCCCTTGCAGGGGGCTGTGTGGAGAGGCGCGCTCTCCCTGCCTCACCCATGCTCATCCTAACTCGGTTACCATCACATCTCTTTTTTCTTTTTTTCTTAAATTTTAAGAAAAAAGAAATTTAATTTTTTTGAGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCATGCCTCGCTGCAGCCTCAATGTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTGCAAGCCACTATACCCCACTTCCTATTTCTTAAAAAGTCACAGCCCTGTGTGTGGCTAATCCTGGACAGAAATCTAGAAGAAGTCAGCTACTTCTGGGGCGTGGCTCACCCAGTGGGCTTCAGGTTAGATATTTCTTATACTTATGAGGCTGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGTGGATTGCTTGGGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCGAAACCCTGTTTCTAGAAAAGGTACAAAAATTAGCTGGGCAGGTGGCACGTGCCTGTGGTACCAGCTACTTGAGGGCCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTCGAGGTTGCAGTGAACTGAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAAAAAGAAAGAAAAAAATTCTTATGCATAGATTTGCCTCTTTTCTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCAACCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGACTGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGGCCGCAAGGCGATCTCTAAACAAACATAAAAGACCAGGAGTCAAGGTTATGGTACGATGCCCGTGTTTTCACTCCAGCCACGGAGCTGGGTCTCTGGTCTCGGGGGCAGCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGCTCCTCGTCTTCCTTTGCCTGGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTGACAACTCCGTCTATCAGAAGACCACAGAGGATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCCATGGCGGCCCCCTCCCAGCTGGAGGCATATGATCCTCAAGGGACCAGGCCGAGGCTTCCCCAGCCCTCCAGATCGAGGACAGCATTAGGTGAATGCTTCTGTGCGCTCATTCAGAATGTCAGCGGACAATGGCCTTGGTGGTGTAGAGGAATGTTGGATAAGCAAATAGAGAGCTCCATCAGATGGTGACAGGGCAAAGAAAGTCAAAAGGAGTTCAGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCTTGGCCATCATGACAAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGGAGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGAAAAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCCGGGAGGCAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGAGTTCAGAGGCCCGGCATGGTGGTTCACACATGTGATCCCAGAACTTGGGGAGGTTGAGGCAGGAGAATCACCTGAGCTCAGAGTTCAAGACCAGCCTGGGCAGCACAGCAAGACCCCATCTCTGCAAAAAATAAAAATTTAGCCCAGTGTGGTGATGAGCGCCTAGTTCCAGCTACTAGGGAGGCTAAGGCAGGAGGATTGCTTGAGGCTAAGGTAGGAGATTGAGACTGCAGTGACTTGTGATTGCGTCACTGCGCTCCAGCCTGGGTGACAGAGCAAGCCCTTGTCTCTTAAAAAAAAAAAAAAATTCAAAGAAGGGTTTCCAGAGGGCCAGGAGGGAGGAAGGGAGAGGAGGTGTTTTATTTTTTTGCTTTTATTTTTTATTTTGAGACAGAGTCTCTCTCTGTCACCCAGGTTGGAGTGCAGTGCTGTGATCTTGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAATTCTTATGCCTCAGCCTCAGCCTCCTGAGTAGCTGGGATTACAACACTATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCCACGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCGCCTTGATCTTTACACAAGGGGTTTAGGGTAGGTAGCCTTCTCTGAACCAGGAGAACAGCCTGTGCGAAGGCCCTGAGGCTGGACCGTGCCTGTTGGGTTTGAGGCCGTTGTAGCTGGAGCAAACAGAGAGAGGGGTAAAAAGGCAGGAGGCTACCAGGCAGGTTGTGCAGAGCCTTGTGGGCCACTGGGGAGGACTTTGGCTTTTGCCCTGAGAGCGGTGGGAAGTGACTGAATCCGGTACTCACCGTCTCCCTCTGGCGGCTCCTGGGGGAACATGCTTGGGGATCAGGCTGGGGGAGGCTGCCAGGCCCAGGAGGTGAGAAGTAGGTGGCCTCCAGCCGTGTTTCCTGAATGCTGGACTGATAGTTTCCGCTGTTTACCATTTGTTGGCAGAGACAGATGGTCAGTCTGGAGGATGACGTGGCGTGAACATCTGCCTGGAGTCCCGTCCCTGCCCAGAACCCTTCCTGAGACCTCGCCGGCCTTGTTTTATTCAAAGACAGAGAAGACCAAAGCATTGCCTGCCAGAGCTTTGTTTTATATATTTATTCATCTGGGAGGCAGAACAGGCTTCGGACAGTGCCCATGCAATGGCTTGGGTTGGGATTTTGGTTTCTTCCTTTCCTCGTGAAGGATAAGAGAAACAGGCCCGGGGGGACCAGGATGACACCTCCATTTCTCTCCAGGAAGTTTTGAGTTTCTCTCCACCGTGACACAATCCTCAAACATGGAAGATGAAAGGGGAGGGGATGTCAGGCC 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Task1_train_26543 | This variant impacts the gene LDLR (low density lipoprotein receptor) on Chromosome 19. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hypercholesterolemia, familial, 1 | ACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTCCTCTGCCTGCTCCATTTCTTGGTGGCCTTCCTTTAGACCTGGGCCTCACTCTTGCTTCTCTCCTGCAGCTCTGGGCGACGTTGCTGGCAGAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCGTCCCCCAGGTCACAGCCTCCCGCTATGTGACCTCGTGCCTGGCTGGTTGGGCCTGTTCACTTTTTCTCCTGGACAGGGAACAGCCCCACTGGTGTCCTTTATCACCCCCACGGCCTCTCCTGGCTTGGGGCTGACAGTGACAAGATCAGACAGCTAAGGGGTCAGATGGAGGATGTGGAGCTGGGTCCCGTGCTGTGGAATAGCCTCACCGAGATTTGAGTGCCTTCTGGGGAACTGGTTCCCTTGCAGGGGGCTGTGTGGAGAGGCGCGCTCTCCCTGCCTCACCCATGCTCATCCTAACTCGGTTACCATCACATCTCTTTTTTCTTTTTTTCTTAAATTTTAAGAAAAAAGAAATTTAATTTTTTTGAGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCATGCCTCGCTGCAGCCTCAATGTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTGCAAGCCACTATACCCCACTTCCTATTTCTTAAAAAGTCACAGCCCTGTGTGTGGCTAATCCTGGACAGAAATCTAGAAGAAGTCAGCTACTTCTGGGGCGTGGCTCACCCAGTGGGCTTCAGGTTAGATATTTCTTATACTTATGAGGCTGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGTGGATTGCTTGGGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCGAAACCCTGTTTCTAGAAAAGGTACAAAAATTAGCTGGGCAGGTGGCACGTGCCTGTGGTACCAGCTACTTGAGGGCCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTCGAGGTTGCAGTGAACTGAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAAAAAGAAAGAAAAAAATTCTTATGCATAGATTTGCCTCTTTTCTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCAACCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGACTGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGGCCGCAAGGCGATCTCTAAACAAACATAAAAGACCAGGAGTCAAGGTTATGGTACGATGCCCGTGTTTTCACTCCAGCCACGGAGCTGGGTCTCTGGTCTCGGGGGCAGCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGCTCCTCGTCTTCCTTTGCCTGGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTGACAACCCCGTCTATCAGAAGACCACAGAGGATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCCATGGCGGCCCCCTCCCAGCTGGAGGCATATGATCCTCAAGGGACCAGGCCGAGGCTTCCCCAGCCCTCCAGATCGAGGACAGCATTAGGTGAATGCTTCTGTGCGCTCATTCAGAATGTCAGCGGACAATGGCCTTGGTGGTGTAGAGGAATGTTGGATAAGCAAATAGAGAGCTCCATCAGATGGTGACAGGGCAAAGAAAGTCAAAAGGAGTTCAGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCTTGGCCATCATGACAAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGGAGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGAAAAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCCGGGAGGCAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGAGTTCAGAGGCCCGGCATGGTGGTTCACACATGTGATCCCAGAACTTGGGGAGGTTGAGGCAGGAGAATCACCTGAGCTCAGAGTTCAAGACCAGCCTGGGCAGCACAGCAAGACCCCATCTCTGCAAAAAATAAAAATTTAGCCCAGTGTGGTGATGAGCGCCTAGTTCCAGCTACTAGGGAGGCTAAGGCAGGAGGATTGCTTGAGGCTAAGGTAGGAGATTGAGACTGCAGTGACTTGTGATTGCGTCACTGCGCTCCAGCCTGGGTGACAGAGCAAGCCCTTGTCTCTTAAAAAAAAAAAAAAATTCAAAGAAGGGTTTCCAGAGGGCCAGGAGGGAGGAAGGGAGAGGAGGTGTTTTATTTTTTTGCTTTTATTTTTTATTTTGAGACAGAGTCTCTCTCTGTCACCCAGGTTGGAGTGCAGTGCTGTGATCTTGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAATTCTTATGCCTCAGCCTCAGCCTCCTGAGTAGCTGGGATTACAACACTATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCCACGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCGCCTTGATCTTTACACAAGGGGTTTAGGGTAGGTAGCCTTCTCTGAACCAGGAGAACAGCCTGTGCGAAGGCCCTGAGGCTGGACCGTGCCTGTTGGGTTTGAGGCCGTTGTAGCTGGAGCAAACAGAGAGAGGGGTAAAAAGGCAGGAGGCTACCAGGCAGGTTGTGCAGAGCCTTGTGGGCCACTGGGGAGGACTTTGGCTTTTGCCCTGAGAGCGGTGGGAAGTGACTGAATCCGGTACTCACCGTCTCCCTCTGGCGGCTCCTGGGGGAACATGCTTGGGGATCAGGCTGGGGGAGGCTGCCAGGCCCAGGAGGTGAGAAGTAGGTGGCCTCCAGCCGTGTTTCCTGAATGCTGGACTGATAGTTTCCGCTGTTTACCATTTGTTGGCAGAGACAGATGGTCAGTCTGGAGGATGACGTGGCGTGAACATCTGCCTGGAGTCCCGTCCCTGCCCAGAACCCTTCCTGAGACCTCGCCGGCCTTGTTTTATTCAAAGACAGAGAAGACCAAAGCATTGCCTGCCAGAGCTTTGTTTTATATATTTATTCATCTGGGAGGCAGAACAGGCTTCGGACAGTGCCCATGCAATGGCTTGGGTTGGGATTTTGGTTTCTTCCTTTCCTCGTGAAGGATAAGAGAAACAGGCCCGGGGGGACCAGGATGACACCTCCATTTCTCTCCAGGAAGTTTTGAGTTTCTCTCCACCGTGACACAATCCTCAAACATGGAAGATGAAAGGGGAGGGGATGTCAGGCCCAGAGAAGCAA 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ACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTCCTCTGCCTGCTCCATTTCTTGGTGGCCTTCCTTTAGACCTGGGCCTCACTCTTGCTTCTCTCCTGCAGCTCTGGGCGACGTTGCTGGCAGAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCGTCCCCCAGGTCACAGCCTCCCGCTATGTGACCTCGTGCCTGGCTGGTTGGGCCTGTTCACTTTTTCTCCTGGACAGGGAACAGCCCCACTGGTGTCCTTTATCACCCCCACGGCCTCTCCTGGCTTGGGGCTGACAGTGACAAGATCAGACAGCTAAGGGGTCAGATGGAGGATGTGGAGCTGGGTCCCGTGCTGTGGAATAGCCTCACCGAGATTTGAGTGCCTTCTGGGGAACTGGTTCCCTTGCAGGGGGCTGTGTGGAGAGGCGCGCTCTCCCTGCCTCACCCATGCTCATCCTAACTCGGTTACCATCACATCTCTTTTTTCTTTTTTTCTTAAATTTTAAGAAAAAAGAAATTTAATTTTTTTGAGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCATGCCTCGCTGCAGCCTCAATGTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTGCAAGCCACTATACCCCACTTCCTATTTCTTAAAAAGTCACAGCCCTGTGTGTGGCTAATCCTGGACAGAAATCTAGAAGAAGTCAGCTACTTCTGGGGCGTGGCTCACCCAGTGGGCTTCAGGTTAGATATTTCTTATACTTATGAGGCTGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGTGGATTGCTTGGGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCGAAACCCTGTTTCTAGAAAAGGTACAAAAATTAGCTGGGCAGGTGGCACGTGCCTGTGGTACCAGCTACTTGAGGGCCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTCGAGGTTGCAGTGAACTGAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAAAAAGAAAGAAAAAAATTCTTATGCATAGATTTGCCTCTTTTCTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCAACCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGACTGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGGCCGCAAGGCGATCTCTAAACAAACATAAAAGACCAGGAGTCAAGGTTATGGTACGATGCCCGTGTTTTCACTCCAGCCACGGAGCTGGGTCTCTGGTCTCGGGGGCAGCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGCTCCTCGTCTTCCTTTGCCTGGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTGACAACCCCGTCTATCACAAGACCACAGAGGATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCCATGGCGGCCCCCTCCCAGCTGGAGGCATATGATCCTCAAGGGACCAGGCCGAGGCTTCCCCAGCCCTCCAGATCGAGGACAGCATTAGGTGAATGCTTCTGTGCGCTCATTCAGAATGTCAGCGGACAATGGCCTTGGTGGTGTAGAGGAATGTTGGATAAGCAAATAGAGAGCTCCATCAGATGGTGACAGGGCAAAGAAAGTCAAAAGGAGTTCAGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCTTGGCCATCATGACAAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGGAGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGAAAAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCCGGGAGGCAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGAGTTCAGAGGCCCGGCATGGTGGTTCACACATGTGATCCCAGAACTTGGGGAGGTTGAGGCAGGAGAATCACCTGAGCTCAGAGTTCAAGACCAGCCTGGGCAGCACAGCAAGACCCCATCTCTGCAAAAAATAAAAATTTAGCCCAGTGTGGTGATGAGCGCCTAGTTCCAGCTACTAGGGAGGCTAAGGCAGGAGGATTGCTTGAGGCTAAGGTAGGAGATTGAGACTGCAGTGACTTGTGATTGCGTCACTGCGCTCCAGCCTGGGTGACAGAGCAAGCCCTTGTCTCTTAAAAAAAAAAAAAAATTCAAAGAAGGGTTTCCAGAGGGCCAGGAGGGAGGAAGGGAGAGGAGGTGTTTTATTTTTTTGCTTTTATTTTTTATTTTGAGACAGAGTCTCTCTCTGTCACCCAGGTTGGAGTGCAGTGCTGTGATCTTGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAATTCTTATGCCTCAGCCTCAGCCTCCTGAGTAGCTGGGATTACAACACTATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCCACGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCGCCTTGATCTTTACACAAGGGGTTTAGGGTAGGTAGCCTTCTCTGAACCAGGAGAACAGCCTGTGCGAAGGCCCTGAGGCTGGACCGTGCCTGTTGGGTTTGAGGCCGTTGTAGCTGGAGCAAACAGAGAGAGGGGTAAAAAGGCAGGAGGCTACCAGGCAGGTTGTGCAGAGCCTTGTGGGCCACTGGGGAGGACTTTGGCTTTTGCCCTGAGAGCGGTGGGAAGTGACTGAATCCGGTACTCACCGTCTCCCTCTGGCGGCTCCTGGGGGAACATGCTTGGGGATCAGGCTGGGGGAGGCTGCCAGGCCCAGGAGGTGAGAAGTAGGTGGCCTCCAGCCGTGTTTCCTGAATGCTGGACTGATAGTTTCCGCTGTTTACCATTTGTTGGCAGAGACAGATGGTCAGTCTGGAGGATGACGTGGCGTGAACATCTGCCTGGAGTCCCGTCCCTGCCCAGAACCCTTCCTGAGACCTCGCCGGCCTTGTTTTATTCAAAGACAGAGAAGACCAAAGCATTGCCTGCCAGAGCTTTGTTTTATATATTTATTCATCTGGGAGGCAGAACAGGCTTCGGACAGTGCCCATGCAATGGCTTGGGTTGGGATTTTGGTTTCTTCCTTTCCTCGTGAAGGATAAGAGAAACAGGCCCGGGGGGACCAGGATGACACCTCCATTTCTCTCCAGGAAGTTTTGAGTTTCTCTCCACCGTGACACAATCCTCAAACATGGAAGATGAAAGGGGAGGGGATGTCAGGCCCAGAGAAGCAA 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Task1_train_26544 | A change on Chromosome 19 affects gene KANK2 (KN motif and ankyrin repeat domains 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Nephrotic syndrome 16 | TTTTGCCCAGACACCTGTTCATAAGCCCCAGTCACCTCCACAGTGCCTGTTTCTGCTTCCCAACACACAGCTGAAGGGAGCGCTCAAACCAGGAATCAGGCCACGCCACTTCCCTGCCTAAATTCCCCTGGCGGTTTCCTGCAGCCCTGAGTCCAAACTGGCTTGAGTCCCGGTGCTCCCTAAAATGCTTATGGCTTGAAGAACGGGCTAGTGAGCTTCAGGAGACCATGCCTGCTTGTTCGCCATTTCAGTCCCCAGTTTTCGGCCCAGGGAACCCAGCTGCTGCTCAATGAACTGTCCAGCAGGATGTGGGATGGGGTCATATTAAGAAAGGTAAGGACCCTCATATCCTCTACTCCTTCTAGTTTCCACAAGAAGGTCCTGTGTCAGAGACAGCCTGGCCATGAAGAGCAGGGCTCTGGAGTTAGACCACCTGGGTTTGGGCCTGTCACTCAGCTGGGATGTCATAAAGTAGGAAGAGCCACCTGGATCTGCAGCAGCCGGGGTCCCCATACCTGGCTGGCTTTGGCATTGATGTTGCCAAGCCGGAAGAGCTGAAGGACAGTCTCGATGTCGTCCTGGGTCTTCAGGGTGGCCAGGGCGGTGAGCATAATAGGGCTGTAGCCAGCACGGTTCTGTTTGTCCACCTTGCAGACACCTAAGAGACATGGTGTGAACCCTCAGACCAGGGATCGCTGCTAGTGGACTGCCCCAAGGAACGTGGATACCACGTCTCGTCCATCAGTCTAGGCATGCCCTAATCCCTCCCTTTTCTCAGAGGACCCCACTCTGCCCTAGAGGTCTCCATCTCCATTAGACCTGGGGCTCCTAAAGTTGGAGACAGTTCCTCCTCCATCAGATTTGGGGCCCCTGATGCTGGCATCTATATTTAGGGCTGAGAATAGAAACTGGGTCTCCCCTGTTAATTTTGGAACAGCCATTTACCCTCAGACTGGCCCATGTCTCCCCCATCAGATTGTGGGCCCTGAGTCCTTCATCAGCCCGGGAGGCTGTCTCCCCCAGTAGGAGAGGGAAGGGCAAGTTTCTTACTAACTGAGGACCACGTCTTCTTTCCAAGCCCCAGACTTGAGGACGCATCCCTCTCTTAGACCAGGGCTCCAGAGATGTCACCTCCATCATGCAGGCGTGTTAGGTTCACACGTTTCCCTAACATCACTTCTGCCTTTTCCATTATGCTGGCTAAAGGTAGGGCCCGTGCCTCCCCCACCAGACTGGGAAGGAAGTGTCTCCTCCATCAGACTGGGAGGACAGCATCTCCCCCATAAGACCAGGAGGGTAGAGTCTCTGCTATCAGACTAGGAGAGTCATGTCTCCCTCGTTAGACTGGGAAGGTGGTGTCTCACTCATTAGACTAGGAGGGTGGTGTCTCTGCCATTTGACTGGGAAGACAGCGTCTCCTCTATCAGACTGGGAGGGCCACATTCCCCCAACAATGAACCGGGAAGATGATGTCTCCTCCATTAAACTAGGCAGGTGGTGTCTCCTCCATCAGCCTGGGAGGGTGGTGCCCCCCCCATCAGACTGGAAGGGTGGCATCTCCCATATCAAACTGGGAAAGTCACATTTCCCCCATCAGACTGGGGAGGCAGCATCTCCTCCATCAGACTAGGAGGGCCACATCCCCACCACAATGAACTGGGAAGGTGTCTCCTCCATCAGCCTGGGAGGGTGGCATCTCCTCCATCAGACTGGGAGGGCGGCATCTCCTCCATCAGACTGGGAGGGCCATATACCCCACCCCATTGAACTGGGAAGGTGCCGTCTCCTCTATCAAACTGGAAGGCTGGTGTCCCTCCACATCCAATCGGAAGGTGGCATCTGCCACATCAGACTGGGAGAGAGGTGTTCCCTCTATTATACTGAGAAGGCCGCGTCTCCTCCATCATCTTCCCCATCAGATGGGGAGGGCAGTGTCTTCCCTATCAGACTGGGCATGGCGGACAGCTGGCTGGTTTAGAGCCGCCTCGTCCTCCCCGCTGGGCTCACCGCTGTCGAGCAGCTGCTGCACCACGGGGAAGTTGGCATGAGACACGGAGTAGTGCAGGGCTGTGTTGCCGTTGCTGTCGGCGATGTTGACCACGTAGTCCAGCAGCCGCGCAGACATGGCCCGGAACGTGACCAGGTGCCGCCGCACCAGCTCGGGGTGTGCGTCGCTGCGGCAGGCCAGGCGCAGCCACTCCTGCAGCACTGTGGTGTAGGCCACTTTCTGCATGCGAGTCAGGTGGGAGAGGATGTGAGGGCGGGGGAGGCCCACTGGGACACCCCCCACCCCAGATGCGCCCCCGGAGCAAAGCGTGGTGCCCTTGTCCTGGAAAACGATCTCAAGGGAAGTGCAGACCCTCCCAAAGGGAAGTGTAGACATCTCTGTCCCAATAAGACCCTTGGAGTGAGGTGTGGACTTTGCAATCCCCAACACGTTCCCCAAGGAAGGTGTGAGCACCTCCACCCTGGATATAATTTCTCTCTCTCTCTTTTTTTTTTTTTTTTGTGAGACAGAGTCTCGCTCTGTTGCCTAGGCTGGAGTGCAGTTACATGATCAGGACTCACTGCAGCCTCAACCTCCTAGGCTCAAGCTATCCTCCCGCCTCTGCCTCCCAAGTAGCTGGGACCACAGGCGTGCACCACTATGCCTAGCTAATTTTTAAAACAATTTGTAGAGGCTGAGTGCAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGTGAGCGGATCACTTGAGGTCACGAGTTCGAGACCATCCTGCCCAACATGGTGAAACCCCATCTCTACTCAAAATACAAAAAATTAGCCAGACGTGGTGGCACATGCCTATAGTCCCAGCTACTTGGGAGGTTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTACAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCCTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTTTTTTGTAGAAATGGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCGATCCTCCTGCCTTGGCCTCCCAAAGCACCAGGATGACAGGCATGAGCCACTGCGCCCAGCCCTGGTTATAATCGCCAAAGTCAAGTGTAGATGCCCAAAAAGGGAAATCTGGGTGCCCCGCCCCTGAAGCCCCCAGGAAGAACAGGAACCCAAGGCCAGGCTTGGCCAGTGAGTGTTCATCCTCCAGCCTCTCCCCATCTCCCTGGCCTCTCTCCGAGGCCCATGACTTGAGCACCACCACCCCCATGCTCTGGGCTTCAGTGTCAGGGTCCCCACTAGGCAGGAGCAGGAAGTCACTGAGGATGAGGAGAGGCCACGGGTGGGGTGGAGGTAGGGGTCCGGGGGGTGGCCAACCTAGGCCCAGGGCCAGATCGTACCAGCTCCCGCTCTGTGAGGGCGTTGGGATTGTCCAGGTACTTTTCCAGGGCCAAGCAGGCTGAGATGAGGTCAGGGCTTAGCTCCATCCTGCCAGGAACAGACAAAGCGGGGAACTAAGTAAGCCCCGCTGCGGTGCCTGGGAAGGGACTTGACATTCTGCACCACGTCACTCACAATAGGGTCACCTGAATGGTGGCATCTCAGACCCTCCTTCACCCGGGACACACATTTACATTGCACCCCAAGGGGCAGCTGTGGGGAACATGCAGACCCCCAAGGGAGAGTGGACACACAAGCCAAAGTTTATTCCAAATGCCCACTGGCAGATGGAAAATATTTCCCAAGGGCAAATTTTTTCACCAGGGGAATAAAAAAGAGACATAAATAGAACAGACAGGTAGAGGAAACGTCCCAAAGTAGGTGGGTGATTTTGGGATAAACTTTGGCTGGTCCCCTAAATCCTAACCCCGGCAGCCCAAAATAGTTCCACCAGGCCCTTTAGCAAAGCCTCCAGAACTTCAGATGCCCAGAAGGAGCAAGTGCTCGTTTGCTAATTCAGACTAAAGTGTGCATGACTGATAGGAGGGTCCTTCAAAGGGCTTGAACGGTGGGGGTTTGAGGCAGAGGTCATCCACCCCCGGCCCTGCCTGAATCCCTCC 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TTTTGCCCAGACACCTGTTCATAAGCCCCAGTCACCTCCACAGTGCCTGTTTCTGCTTCCCAACACACAGCTGAAGGGAGCGCTCAAACCAGGAATCAGGCCACGCCACTTCCCTGCCTAAATTCCCCTGGCGGTTTCCTGCAGCCCTGAGTCCAAACTGGCTTGAGTCCCGGTGCTCCCTAAAATGCTTATGGCTTGAAGAACGGGCTAGTGAGCTTCAGGAGACCATGCCTGCTTGTTCGCCATTTCAGTCCCCAGTTTTCGGCCCAGGGAACCCAGCTGCTGCTCAATGAACTGTCCAGCAGGATGTGGGATGGGGTCATATTAAGAAAGGTAAGGACCCTCATATCCTCTACTCCTTCTAGTTTCCACAAGAAGGTCCTGTGTCAGAGACAGCCTGGCCATGAAGAGCAGGGCTCTGGAGTTAGACCACCTGGGTTTGGGCCTGTCACTCAGCTGGGATGTCATAAAGTAGGAAGAGCCACCTGGATCTGCAGCAGCCGGGGTCCCCATACCTGGCTGGCTTTGGCATTGATGTTGCCAAGCCGGAAGAGCTGAAGGACAGTCTCGATGTCGTCCTGGGTCTTCAGGGTGGCCAGGGCGGTGAGCATAATAGGGCTGTAGCCAGCACGGTTCTGTTTGTCCACCTTGCAGACACCTAAGAGACATGGTGTGAACCCTCAGACCAGGGATCGCTGCTAGTGGACTGCCCCAAGGAACGTGGATACCACGTCTCGTCCATCAGTCTAGGCATGCCCTAATCCCTCCCTTTTCTCAGAGGACCCCACTCTGCCCTAGAGGTCTCCATCTCCATTAGACCTGGGGCTCCTAAAGTTGGAGACAGTTCCTCCTCCATCAGATTTGGGGCCCCTGATGCTGGCATCTATATTTAGGGCTGAGAATAGAAACTGGGTCTCCCCTGTTAATTTTGGAACAGCCATTTACCCTCAGACTGGCCCATGTCTCCCCCATCAGATTGTGGGCCCTGAGTCCTTCATCAGCCCGGGAGGCTGTCTCCCCCAGTAGGAGAGGGAAGGGCAAGTTTCTTACTAACTGAGGACCACGTCTTCTTTCCAAGCCCCAGACTTGAGGACGCATCCCTCTCTTAGACCAGGGCTCCAGAGATGTCACCTCCATCATGCAGGCGTGTTAGGTTCACACGTTTCCCTAACATCACTTCTGCCTTTTCCATTATGCTGGCTAAAGGTAGGGCCCGTGCCTCCCCCACCAGACTGGGAAGGAAGTGTCTCCTCCATCAGACTGGGAGGACAGCATCTCCCCCATAAGACCAGGAGGGTAGAGTCTCTGCTATCAGACTAGGAGAGTCATGTCTCCCTCGTTAGACTGGGAAGGTGGTGTCTCACTCATTAGACTAGGAGGGTGGTGTCTCTGCCATTTGACTGGGAAGACAGCGTCTCCTCTATCAGACTGGGAGGGCCACATTCCCCCAACAATGAACCGGGAAGATGATGTCTCCTCCATTAAACTAGGCAGGTGGTGTCTCCTCCATCAGCCTGGGAGGGTGGTGCCCCCCCCATCAGACTGGAAGGGTGGCATCTCCCATATCAAACTGGGAAAGTCACATTTCCCCCATCAGACTGGGGAGGCAGCATCTCCTCCATCAGACTAGGAGGGCCACATCCCCACCACAATGAACTGGGAAGGTGTCTCCTCCATCAGCCTGGGAGGGTGGCATCTCCTCCATCAGACTGGGAGGGCGGCATCTCCTCCATCAGACTGGGAGGGCCATATACCCCACCCCATTGAACTGGGAAGGTGCCGTCTCCTCTATCAAACTGGAAGGCTGGTGTCCCTCCACATCCAATCGGAAGGTGGCATCTGCCACATCAGACTGGGAGAGAGGTGTTCCCTCTATTATACTGAGAAGGCCGCGTCTCCTCCATCATCTTCCCCATCAGATGGGGAGGGCAGTGTCTTCCCTATCAGACTGGGCATGGCGGACAGCTGGCTGGTTTAGAGCCGCCTCGTCCTCCCCGCTGGGCTCACCGCTGTCGAGCAGCTGCTGCACCACGGGGAAGTTGGCATGAAACACGGAGTAGTGCAGGGCTGTGTTGCCGTTGCTGTCGGCGATGTTGACCACGTAGTCCAGCAGCCGCGCAGACATGGCCCGGAACGTGACCAGGTGCCGCCGCACCAGCTCGGGGTGTGCGTCGCTGCGGCAGGCCAGGCGCAGCCACTCCTGCAGCACTGTGGTGTAGGCCACTTTCTGCATGCGAGTCAGGTGGGAGAGGATGTGAGGGCGGGGGAGGCCCACTGGGACACCCCCCACCCCAGATGCGCCCCCGGAGCAAAGCGTGGTGCCCTTGTCCTGGAAAACGATCTCAAGGGAAGTGCAGACCCTCCCAAAGGGAAGTGTAGACATCTCTGTCCCAATAAGACCCTTGGAGTGAGGTGTGGACTTTGCAATCCCCAACACGTTCCCCAAGGAAGGTGTGAGCACCTCCACCCTGGATATAATTTCTCTCTCTCTCTTTTTTTTTTTTTTTTGTGAGACAGAGTCTCGCTCTGTTGCCTAGGCTGGAGTGCAGTTACATGATCAGGACTCACTGCAGCCTCAACCTCCTAGGCTCAAGCTATCCTCCCGCCTCTGCCTCCCAAGTAGCTGGGACCACAGGCGTGCACCACTATGCCTAGCTAATTTTTAAAACAATTTGTAGAGGCTGAGTGCAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGTGAGCGGATCACTTGAGGTCACGAGTTCGAGACCATCCTGCCCAACATGGTGAAACCCCATCTCTACTCAAAATACAAAAAATTAGCCAGACGTGGTGGCACATGCCTATAGTCCCAGCTACTTGGGAGGTTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTACAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCCTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTTTTTTGTAGAAATGGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCGATCCTCCTGCCTTGGCCTCCCAAAGCACCAGGATGACAGGCATGAGCCACTGCGCCCAGCCCTGGTTATAATCGCCAAAGTCAAGTGTAGATGCCCAAAAAGGGAAATCTGGGTGCCCCGCCCCTGAAGCCCCCAGGAAGAACAGGAACCCAAGGCCAGGCTTGGCCAGTGAGTGTTCATCCTCCAGCCTCTCCCCATCTCCCTGGCCTCTCTCCGAGGCCCATGACTTGAGCACCACCACCCCCATGCTCTGGGCTTCAGTGTCAGGGTCCCCACTAGGCAGGAGCAGGAAGTCACTGAGGATGAGGAGAGGCCACGGGTGGGGTGGAGGTAGGGGTCCGGGGGGTGGCCAACCTAGGCCCAGGGCCAGATCGTACCAGCTCCCGCTCTGTGAGGGCGTTGGGATTGTCCAGGTACTTTTCCAGGGCCAAGCAGGCTGAGATGAGGTCAGGGCTTAGCTCCATCCTGCCAGGAACAGACAAAGCGGGGAACTAAGTAAGCCCCGCTGCGGTGCCTGGGAAGGGACTTGACATTCTGCACCACGTCACTCACAATAGGGTCACCTGAATGGTGGCATCTCAGACCCTCCTTCACCCGGGACACACATTTACATTGCACCCCAAGGGGCAGCTGTGGGGAACATGCAGACCCCCAAGGGAGAGTGGACACACAAGCCAAAGTTTATTCCAAATGCCCACTGGCAGATGGAAAATATTTCCCAAGGGCAAATTTTTTCACCAGGGGAATAAAAAAGAGACATAAATAGAACAGACAGGTAGAGGAAACGTCCCAAAGTAGGTGGGTGATTTTGGGATAAACTTTGGCTGGTCCCCTAAATCCTAACCCCGGCAGCCCAAAATAGTTCCACCAGGCCCTTTAGCAAAGCCTCCAGAACTTCAGATGCCCAGAAGGAGCAAGTGCTCGTTTGCTAATTCAGACTAAAGTGTGCATGACTGATAGGAGGGTCCTTCAAAGGGCTTGAACGGTGGGGGTTTGAGGCAGAGGTCATCCACCCCCGGCCCTGCCTGAATCCCTCC 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Task1_train_26545 | This alteration in KANK2 (KN motif and ankyrin repeat domains 2) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Wooly hair-palmoplantar keratoderma syndrome | TCATAAGCCCCAGTCACCTCCACAGTGCCTGTTTCTGCTTCCCAACACACAGCTGAAGGGAGCGCTCAAACCAGGAATCAGGCCACGCCACTTCCCTGCCTAAATTCCCCTGGCGGTTTCCTGCAGCCCTGAGTCCAAACTGGCTTGAGTCCCGGTGCTCCCTAAAATGCTTATGGCTTGAAGAACGGGCTAGTGAGCTTCAGGAGACCATGCCTGCTTGTTCGCCATTTCAGTCCCCAGTTTTCGGCCCAGGGAACCCAGCTGCTGCTCAATGAACTGTCCAGCAGGATGTGGGATGGGGTCATATTAAGAAAGGTAAGGACCCTCATATCCTCTACTCCTTCTAGTTTCCACAAGAAGGTCCTGTGTCAGAGACAGCCTGGCCATGAAGAGCAGGGCTCTGGAGTTAGACCACCTGGGTTTGGGCCTGTCACTCAGCTGGGATGTCATAAAGTAGGAAGAGCCACCTGGATCTGCAGCAGCCGGGGTCCCCATACCTGGCTGGCTTTGGCATTGATGTTGCCAAGCCGGAAGAGCTGAAGGACAGTCTCGATGTCGTCCTGGGTCTTCAGGGTGGCCAGGGCGGTGAGCATAATAGGGCTGTAGCCAGCACGGTTCTGTTTGTCCACCTTGCAGACACCTAAGAGACATGGTGTGAACCCTCAGACCAGGGATCGCTGCTAGTGGACTGCCCCAAGGAACGTGGATACCACGTCTCGTCCATCAGTCTAGGCATGCCCTAATCCCTCCCTTTTCTCAGAGGACCCCACTCTGCCCTAGAGGTCTCCATCTCCATTAGACCTGGGGCTCCTAAAGTTGGAGACAGTTCCTCCTCCATCAGATTTGGGGCCCCTGATGCTGGCATCTATATTTAGGGCTGAGAATAGAAACTGGGTCTCCCCTGTTAATTTTGGAACAGCCATTTACCCTCAGACTGGCCCATGTCTCCCCCATCAGATTGTGGGCCCTGAGTCCTTCATCAGCCCGGGAGGCTGTCTCCCCCAGTAGGAGAGGGAAGGGCAAGTTTCTTACTAACTGAGGACCACGTCTTCTTTCCAAGCCCCAGACTTGAGGACGCATCCCTCTCTTAGACCAGGGCTCCAGAGATGTCACCTCCATCATGCAGGCGTGTTAGGTTCACACGTTTCCCTAACATCACTTCTGCCTTTTCCATTATGCTGGCTAAAGGTAGGGCCCGTGCCTCCCCCACCAGACTGGGAAGGAAGTGTCTCCTCCATCAGACTGGGAGGACAGCATCTCCCCCATAAGACCAGGAGGGTAGAGTCTCTGCTATCAGACTAGGAGAGTCATGTCTCCCTCGTTAGACTGGGAAGGTGGTGTCTCACTCATTAGACTAGGAGGGTGGTGTCTCTGCCATTTGACTGGGAAGACAGCGTCTCCTCTATCAGACTGGGAGGGCCACATTCCCCCAACAATGAACCGGGAAGATGATGTCTCCTCCATTAAACTAGGCAGGTGGTGTCTCCTCCATCAGCCTGGGAGGGTGGTGCCCCCCCCATCAGACTGGAAGGGTGGCATCTCCCATATCAAACTGGGAAAGTCACATTTCCCCCATCAGACTGGGGAGGCAGCATCTCCTCCATCAGACTAGGAGGGCCACATCCCCACCACAATGAACTGGGAAGGTGTCTCCTCCATCAGCCTGGGAGGGTGGCATCTCCTCCATCAGACTGGGAGGGCGGCATCTCCTCCATCAGACTGGGAGGGCCATATACCCCACCCCATTGAACTGGGAAGGTGCCGTCTCCTCTATCAAACTGGAAGGCTGGTGTCCCTCCACATCCAATCGGAAGGTGGCATCTGCCACATCAGACTGGGAGAGAGGTGTTCCCTCTATTATACTGAGAAGGCCGCGTCTCCTCCATCATCTTCCCCATCAGATGGGGAGGGCAGTGTCTTCCCTATCAGACTGGGCATGGCGGACAGCTGGCTGGTTTAGAGCCGCCTCGTCCTCCCCGCTGGGCTCACCGCTGTCGAGCAGCTGCTGCACCACGGGGAAGTTGGCATGAGACACGGAGTAGTGCAGGGCTGTGTTGCCGTTGCTGTCGGCGATGTTGACCACGTAGTCCAGCAGCCGCGCAGACATGGCCCGGAACGTGACCAGGTGCCGCCGCACCAGCTCGGGGTGTGCGTCGCTGCGGCAGGCCAGGCGCAGCCACTCCTGCAGCACTGTGGTGTAGGCCACTTTCTGCATGCGAGTCAGGTGGGAGAGGATGTGAGGGCGGGGGAGGCCCACTGGGACACCCCCCACCCCAGATGCGCCCCCGGAGCAAAGCGTGGTGCCCTTGTCCTGGAAAACGATCTCAAGGGAAGTGCAGACCCTCCCAAAGGGAAGTGTAGACATCTCTGTCCCAATAAGACCCTTGGAGTGAGGTGTGGACTTTGCAATCCCCAACACGTTCCCCAAGGAAGGTGTGAGCACCTCCACCCTGGATATAATTTCTCTCTCTCTCTTTTTTTTTTTTTTTTGTGAGACAGAGTCTCGCTCTGTTGCCTAGGCTGGAGTGCAGTTACATGATCAGGACTCACTGCAGCCTCAACCTCCTAGGCTCAAGCTATCCTCCCGCCTCTGCCTCCCAAGTAGCTGGGACCACAGGCGTGCACCACTATGCCTAGCTAATTTTTAAAACAATTTGTAGAGGCTGAGTGCAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGTGAGCGGATCACTTGAGGTCACGAGTTCGAGACCATCCTGCCCAACATGGTGAAACCCCATCTCTACTCAAAATACAAAAAATTAGCCAGACGTGGTGGCACATGCCTATAGTCCCAGCTACTTGGGAGGTTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTACAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCCTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTTTTTTGTAGAAATGGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCGATCCTCCTGCCTTGGCCTCCCAAAGCACCAGGATGACAGGCATGAGCCACTGCGCCCAGCCCTGGTTATAATCGCCAAAGTCAAGTGTAGATGCCCAAAAAGGGAAATCTGGGTGCCCCGCCCCTGAAGCCCCCAGGAAGAACAGGAACCCAAGGCCAGGCTTGGCCAGTGAGTGTTCATCCTCCAGCCTCTCCCCATCTCCCTGGCCTCTCTCCGAGGCCCATGACTTGAGCACCACCACCCCCATGCTCTGGGCTTCAGTGTCAGGGTCCCCACTAGGCAGGAGCAGGAAGTCACTGAGGATGAGGAGAGGCCACGGGTGGGGTGGAGGTAGGGGTCCGGGGGGTGGCCAACCTAGGCCCAGGGCCAGATCGTACCAGCTCCCGCTCTGTGAGGGCGTTGGGATTGTCCAGGTACTTTTCCAGGGCCAAGCAGGCTGAGATGAGGTCAGGGCTTAGCTCCATCCTGCCAGGAACAGACAAAGCGGGGAACTAAGTAAGCCCCGCTGCGGTGCCTGGGAAGGGACTTGACATTCTGCACCACGTCACTCACAATAGGGTCACCTGAATGGTGGCATCTCAGACCCTCCTTCACCCGGGACACACATTTACATTGCACCCCAAGGGGCAGCTGTGGGGAACATGCAGACCCCCAAGGGAGAGTGGACACACAAGCCAAAGTTTATTCCAAATGCCCACTGGCAGATGGAAAATATTTCCCAAGGGCAAATTTTTTCACCAGGGGAATAAAAAAGAGACATAAATAGAACAGACAGGTAGAGGAAACGTCCCAAAGTAGGTGGGTGATTTTGGGATAAACTTTGGCTGGTCCCCTAAATCCTAACCCCGGCAGCCCAAAATAGTTCCACCAGGCCCTTTAGCAAAGCCTCCAGAACTTCAGATGCCCAGAAGGAGCAAGTGCTCGTTTGCTAATTCAGACTAAAGTGTGCATGACTGATAGGAGGGTCCTTCAAAGGGCTTGAACGGTGGGGGTTTGAGGCAGAGGTCATCCACCCCCGGCCCTGCCTGAATCCCTCCTACCCAGAAAACTGACCT 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TCATAAGCCCCAGTCACCTCCACAGTGCCTGTTTCTGCTTCCCAACACACAGCTGAAGGGAGCGCTCAAACCAGGAATCAGGCCACGCCACTTCCCTGCCTAAATTCCCCTGGCGGTTTCCTGCAGCCCTGAGTCCAAACTGGCTTGAGTCCCGGTGCTCCCTAAAATGCTTATGGCTTGAAGAACGGGCTAGTGAGCTTCAGGAGACCATGCCTGCTTGTTCGCCATTTCAGTCCCCAGTTTTCGGCCCAGGGAACCCAGCTGCTGCTCAATGAACTGTCCAGCAGGATGTGGGATGGGGTCATATTAAGAAAGGTAAGGACCCTCATATCCTCTACTCCTTCTAGTTTCCACAAGAAGGTCCTGTGTCAGAGACAGCCTGGCCATGAAGAGCAGGGCTCTGGAGTTAGACCACCTGGGTTTGGGCCTGTCACTCAGCTGGGATGTCATAAAGTAGGAAGAGCCACCTGGATCTGCAGCAGCCGGGGTCCCCATACCTGGCTGGCTTTGGCATTGATGTTGCCAAGCCGGAAGAGCTGAAGGACAGTCTCGATGTCGTCCTGGGTCTTCAGGGTGGCCAGGGCGGTGAGCATAATAGGGCTGTAGCCAGCACGGTTCTGTTTGTCCACCTTGCAGACACCTAAGAGACATGGTGTGAACCCTCAGACCAGGGATCGCTGCTAGTGGACTGCCCCAAGGAACGTGGATACCACGTCTCGTCCATCAGTCTAGGCATGCCCTAATCCCTCCCTTTTCTCAGAGGACCCCACTCTGCCCTAGAGGTCTCCATCTCCATTAGACCTGGGGCTCCTAAAGTTGGAGACAGTTCCTCCTCCATCAGATTTGGGGCCCCTGATGCTGGCATCTATATTTAGGGCTGAGAATAGAAACTGGGTCTCCCCTGTTAATTTTGGAACAGCCATTTACCCTCAGACTGGCCCATGTCTCCCCCATCAGATTGTGGGCCCTGAGTCCTTCATCAGCCCGGGAGGCTGTCTCCCCCAGTAGGAGAGGGAAGGGCAAGTTTCTTACTAACTGAGGACCACGTCTTCTTTCCAAGCCCCAGACTTGAGGACGCATCCCTCTCTTAGACCAGGGCTCCAGAGATGTCACCTCCATCATGCAGGCGTGTTAGGTTCACACGTTTCCCTAACATCACTTCTGCCTTTTCCATTATGCTGGCTAAAGGTAGGGCCCGTGCCTCCCCCACCAGACTGGGAAGGAAGTGTCTCCTCCATCAGACTGGGAGGACAGCATCTCCCCCATAAGACCAGGAGGGTAGAGTCTCTGCTATCAGACTAGGAGAGTCATGTCTCCCTCGTTAGACTGGGAAGGTGGTGTCTCACTCATTAGACTAGGAGGGTGGTGTCTCTGCCATTTGACTGGGAAGACAGCGTCTCCTCTATCAGACTGGGAGGGCCACATTCCCCCAACAATGAACCGGGAAGATGATGTCTCCTCCATTAAACTAGGCAGGTGGTGTCTCCTCCATCAGCCTGGGAGGGTGGTGCCCCCCCCATCAGACTGGAAGGGTGGCATCTCCCATATCAAACTGGGAAAGTCACATTTCCCCCATCAGACTGGGGAGGCAGCATCTCCTCCATCAGACTAGGAGGGCCACATCCCCACCACAATGAACTGGGAAGGTGTCTCCTCCATCAGCCTGGGAGGGTGGCATCTCCTCCATCAGACTGGGAGGGCGGCATCTCCTCCATCAGACTGGGAGGGCCATATACCCCACCCCATTGAACTGGGAAGGTGCCGTCTCCTCTATCAAACTGGAAGGCTGGTGTCCCTCCACATCCAATCGGAAGGTGGCATCTGCCACATCAGACTGGGAGAGAGGTGTTCCCTCTATTATACTGAGAAGGCCGCGTCTCCTCCATCATCTTCCCCATCAGATGGGGAGGGCAGTGTCTTCCCTATCAGACTGGGCATGGCGGACAGCTGGCTGGTTTAGAGCCGCCTCGTCCTCCCCGCTGGGCTCACCGCTGTCGAGCAGCTGCTGCACCACGGGGAAGTTGGCATGAGACACGGAGTAGTGCAGGACTGTGTTGCCGTTGCTGTCGGCGATGTTGACCACGTAGTCCAGCAGCCGCGCAGACATGGCCCGGAACGTGACCAGGTGCCGCCGCACCAGCTCGGGGTGTGCGTCGCTGCGGCAGGCCAGGCGCAGCCACTCCTGCAGCACTGTGGTGTAGGCCACTTTCTGCATGCGAGTCAGGTGGGAGAGGATGTGAGGGCGGGGGAGGCCCACTGGGACACCCCCCACCCCAGATGCGCCCCCGGAGCAAAGCGTGGTGCCCTTGTCCTGGAAAACGATCTCAAGGGAAGTGCAGACCCTCCCAAAGGGAAGTGTAGACATCTCTGTCCCAATAAGACCCTTGGAGTGAGGTGTGGACTTTGCAATCCCCAACACGTTCCCCAAGGAAGGTGTGAGCACCTCCACCCTGGATATAATTTCTCTCTCTCTCTTTTTTTTTTTTTTTTGTGAGACAGAGTCTCGCTCTGTTGCCTAGGCTGGAGTGCAGTTACATGATCAGGACTCACTGCAGCCTCAACCTCCTAGGCTCAAGCTATCCTCCCGCCTCTGCCTCCCAAGTAGCTGGGACCACAGGCGTGCACCACTATGCCTAGCTAATTTTTAAAACAATTTGTAGAGGCTGAGTGCAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGTGAGCGGATCACTTGAGGTCACGAGTTCGAGACCATCCTGCCCAACATGGTGAAACCCCATCTCTACTCAAAATACAAAAAATTAGCCAGACGTGGTGGCACATGCCTATAGTCCCAGCTACTTGGGAGGTTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTACAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCCTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTTTTTTGTAGAAATGGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCGATCCTCCTGCCTTGGCCTCCCAAAGCACCAGGATGACAGGCATGAGCCACTGCGCCCAGCCCTGGTTATAATCGCCAAAGTCAAGTGTAGATGCCCAAAAAGGGAAATCTGGGTGCCCCGCCCCTGAAGCCCCCAGGAAGAACAGGAACCCAAGGCCAGGCTTGGCCAGTGAGTGTTCATCCTCCAGCCTCTCCCCATCTCCCTGGCCTCTCTCCGAGGCCCATGACTTGAGCACCACCACCCCCATGCTCTGGGCTTCAGTGTCAGGGTCCCCACTAGGCAGGAGCAGGAAGTCACTGAGGATGAGGAGAGGCCACGGGTGGGGTGGAGGTAGGGGTCCGGGGGGTGGCCAACCTAGGCCCAGGGCCAGATCGTACCAGCTCCCGCTCTGTGAGGGCGTTGGGATTGTCCAGGTACTTTTCCAGGGCCAAGCAGGCTGAGATGAGGTCAGGGCTTAGCTCCATCCTGCCAGGAACAGACAAAGCGGGGAACTAAGTAAGCCCCGCTGCGGTGCCTGGGAAGGGACTTGACATTCTGCACCACGTCACTCACAATAGGGTCACCTGAATGGTGGCATCTCAGACCCTCCTTCACCCGGGACACACATTTACATTGCACCCCAAGGGGCAGCTGTGGGGAACATGCAGACCCCCAAGGGAGAGTGGACACACAAGCCAAAGTTTATTCCAAATGCCCACTGGCAGATGGAAAATATTTCCCAAGGGCAAATTTTTTCACCAGGGGAATAAAAAAGAGACATAAATAGAACAGACAGGTAGAGGAAACGTCCCAAAGTAGGTGGGTGATTTTGGGATAAACTTTGGCTGGTCCCCTAAATCCTAACCCCGGCAGCCCAAAATAGTTCCACCAGGCCCTTTAGCAAAGCCTCCAGAACTTCAGATGCCCAGAAGGAGCAAGTGCTCGTTTGCTAATTCAGACTAAAGTGTGCATGACTGATAGGAGGGTCCTTCAAAGGGCTTGAACGGTGGGGGTTTGAGGCAGAGGTCATCCACCCCCGGCCCTGCCTGAATCCCTCCTACCCAGAAAACTGACCT 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Task1_train_26546 | This sequence change occurs on Chromosome 19, altering KANK2 (KN motif and ankyrin repeat domains 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Nephrotic syndrome 16 | CAGGGCTTGGGTGGGGCTCCCCTACCCCCGGCGTCCATGGCTAGGCAGACAGGGACACCGTGATTGGCTCAGCAATGGGCACATGACCCAGGCCAGCCAATGAGGGCCCCCTCTGGGATTTTTACTGGTGCTCTTTGGATTAAGGATCTCCCTCTCCACTAAACTGGACAGACAGATGCCTGGAGCAGTGAGGTCACTTTCCCTTGCCTGCCTGAAAGAGAAGCTCCCAGGGAAAACAAGAAGAGAAAGGCACCAAGTTAGATTCCTGATGATATCTGAGCACTGAGGCCAGCGTGGTGGCTCATGCTTGTAATCCCAGCACTCTGGGAGGCCAAGACAGGAGCATCATTTGAGCCCAGAAGTTTGAGACCAGCCTGGGCAACATAACAAGACTTTGTCTCTACAAAAAATAAAAAAAATTAACGAGGCACAGTGGTGCATGCCTGTAGACCCAGCTACTTGGGAGGCTAAGGCGGGAGGATTGCTTGAGCCTAGGAAGTCAAGGCTGCAGTGAGCCATGATTACACCAACTGCACTCCAGCCTGGGCAATGGAGCGAGACTCTATCTCTTAATAACGACAACAAGAACAAGATATTTGTGCACCTGGATCCAGCCATGCCTGAAGCTGTCATCAGTTACGTAATAACACATTTCCTTTTCACTGCTTGAACAGCTCCGAGATTGATTCCTGCCACTTACTGAATAAACAGGGAGGTTTCTGCCTGGTAAACCAACAGCCTTGGGGAACTTTCCCCCAAATACCTCCCACTTTCTGGATACTGACAAAGTGGCAGTCACCTAATTTCTCTGCATGGTTGCTACAGCCCTGAGGGTTGGCTGCACAATTCTCCTCCTTTTGTGGATGATAAGACAGAGACTCTAAGAGTTGGACTGATGTGTCTGGTGGAAGGTCGGGGGCTGGGGCTGGACCTTGGCATTCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTAATCTCAGCTCACTGCAACCTCCGCTTCCCTAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGAGGTTTACAGGCGCACGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAAGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGCGCCACCGCACCCTGCCTGGACCCTGGCGTTCTGAGAGTCCAGGATGAGCCATGGGAAGAAAGAGGCCCCCCCCCCCCAAGCCATTCTCCCCTGCCTGCCTGCGACCGCTTACCTGCTGCTCCATCGCAGCTTCGCTCTGTGATGCTAATCTTCTTCACCATATGGACGTTGCTGGTAGCTGCAGCGGGCACTGGGCACATTGTCTCCACCACCTCCTGGCTGCGGAACACAGGTGGGCTCTCAGGCCTACCAGGCATTGCCAGGGCCCTCAGCCCTGTGCCGTAAGGCTCCAGGCTCTGGGCCCGCTGTGCGGGGGCGCCAGCGGCTGTGCTGGCCACCACCTCCACCTCCCGTGGCCCTTCTACCACCCGGACTGTATCCACGCGGACCGGGCTGTCCGGCGGTGGCCAGGCCTGGGGCTGGGGGTCAGCCTGCCGGGCCTGAGCTGCCTGCAGCTCCTGCAGCGCCTTCTTGAGCTGGGTCTCCAGCACAGCGACCTTGGCGGCGAGGGCAGCCTCCCCATCAGGCATGCCCAAGTCCCGTTCTCGAACCCAGGTGCCCACACTCCGGGTCTCCAGTGCCACTGGGTCCTCTGGGGGATCGGGGAGGTCCAGGCAGAGCTCGCTGCGACCCCGGCCCGCTGTGGGGTGGCCCAGGAACTTCTGGCTCTTAAGTTGTACTGTGAGCTGCCGCTTTTCCTCCTGGAGCACCGAGAGCTTCACCTGGAGCACAGGGATCAGCTTCACCTGCTCCTCCAGCTGCCGCAGCTTCCGCAGGGCACCCGCCATCTGCTCCCGCACGTGGGCCAGGTGCCCGGCACTGGGAGGCACCGGTGTGGACAGTCCTGAACTCCGTGGTGTCGGGGGTGGCAACCCCACGCCCACCAGGGAGGCTGTCGAGCCGGCCGCACTGGGGGTCAGGGAGCCCAGGCCGGTGGGTGTGGCCGCCTGGTCCTCGAGACGGCGACGGGCATCCAGCAGCGTGCGCTCCACCCGCGGATTGAAGCCACCGCGGGTCTCCAGAGCACCATACTGAGGGTAGAAGCCACGGCCGCAGTAGGAATAGGCTGAGTGGCGGCTGTCCCCACTGGCATTGGAGCACAGCGACTCAGTGGACGTCCACCAGGAGCCAGGGCCACGGGGCAGCGAGCTCAGGCGGGGGCGGCGCTGCACTGCCACGCGTCGCAGCGTGTGGCCCTTCTCGATGTCATCCACGTACTTGAGGAAGTCCAGGTCCAGGCGGTAGCCATAGGGGGTCTCCACGGAGTAGGGTGGATCGGGGTCCTTGGCAGGGAAGGCAGGTGGGGAGGCTGGGCCAGGGGTCCCTGGGGATGGGAGAAACACCAGGACCTTTGAATCCTCTTGTCCCCATTCTCAGGGTGAAGACTGATGCCTGGGGAGAGTTGGGGTTTATTTGCCGAAGAGATGGGAGCCCACCTGGTACTCAACCGCGTCTGCTCTCAGACCCTCCAGAGCAGGGCTATGCCTCCCCTTCAGACTCCCGGCGCTAGGCTATGTCGCCTCTCAAATCCCCCAGGACAGGGCTCTATCCCTCGGCTTAGACTACCCCCTTTTTCCGGTAAGACTCTGCCTCCCCCTTCAGACCCTCCCAGGGCAGGACTCTGCCTCCTCCCTCAGACCTCTAATTGTTGGGCTGTGTCCCACCCTCAAAGTCCCCAGGGCAAGGTCCCCAGCCCCCTCAGGCCTCCAGAACTGAAGCTCCCCGGGGCAGGGCCCTCTTCCCTGAGTCCCCTGACCTGGGAAGGGAGCAGGCACGTGCAGGACCTGGGCCATCTTCTTTTCTACAGATGCTCCTTGGAAGTCACTTGAGGGACTGCGAGTCAGACTGCCTGCAGCACCGGCTGAGGCTTACCTGGGGAAAGAGAACCACGGCGCCGGGAGTTAGGAGTCTGTAGGGGGAGGGGAGGAGATGAGGCCAGCCCCCTCCACAGCTGGTTCACCCAGCCCCCCAACCCAGGTCTGGGACCCACTCATAGACGCACACCCAGCCTGGCTGCGGAAGGGCCCCCCCCGACCCCCTCCCCCCCGCAGGTCTGGAACAAAGAAACCAAACCTCACTGCCTGCTTGCACATCTGTCCAGGCCCTGGACAGGCTCCAGCTGTTCCCATAGCCCAGCCTCCACATAGCCCTGGGGCTGGGGGGCCCCAAGCCCAACAGGCCCCACCCTTCCTGCACCCCCTCCCCTCAGCCCAGGCCCGGAGCTGGCCACACGGAAGGATGGGGGTTGAGGCGCTAAGGGGTTGGGGAAGAAGGGAACCTCGTCTTCCTGCAAGGATCTGAGGAGACAGAGACGCAGGGGGACAAAGAGAGGCAAAGCATGGCGAAGGGGACCCCCAGTGACCCCAAAGCTGAGAGCTGGGTCAGGCCTGGACTGGGTCGGGGGGAAGGGGTAGGGAAAGTTGGGGAGGCAGCTAGGAGTGAAGCCTTTCCCCTTTATGGAAACAATTTTCTCTAAAAATAAACAGTTTCACTGCCGGGCTACACAGAACTTCCTGCCCGCCTAGGATGCGTCCGGGCCCAGGGGCGCAGTAGGGATAGAGGGCCGGGTGGAGGCCCAGGAAGTCCTGGGGGTGGAGGGGAGGAAGTAAGAGGGGGCGCCTGGAGGCTGCAAAAGGGAGGGACAGTCAGAGCCTCTCACTAAACCCCCCTCAGCCTTGGAGGCCGGCCAGGGCTCTTTTGTCCCCAATATAACCCATCTGAACTTGGCTGGTCCTTTCTGTTATCTGACCTCCAGCCATCATGCTGCAGAGGCCCCAGCCCATCCCACCATCAGAGTAAATCCTTTCTGGCCTTTGAGTGCTGGGGCCGGCAGGTACCTTGGGAGGATGGGCCAGGTAGGGCACCTGC | CAGGGCTTGGGTGGGGCTCCCCTACCCCCGGCGTCCATGGCTAGGCAGACAGGGACACCGTGATTGGCTCAGCAATGGGCACATGACCCAGGCCAGCCAATGAGGGCCCCCTCTGGGATTTTTACTGGTGCTCTTTGGATTAAGGATCTCCCTCTCCACTAAACTGGACAGACAGATGCCTGGAGCAGTGAGGTCACTTTCCCTTGCCTGCCTGAAAGAGAAGCTCCCAGGGAAAACAAGAAGAGAAAGGCACCAAGTTAGATTCCTGATGATATCTGAGCACTGAGGCCAGCGTGGTGGCTCATGCTTGTAATCCCAGCACTCTGGGAGGCCAAGACAGGAGCATCATTTGAGCCCAGAAGTTTGAGACCAGCCTGGGCAACATAACAAGACTTTGTCTCTACAAAAAATAAAAAAAATTAACGAGGCACAGTGGTGCATGCCTGTAGACCCAGCTACTTGGGAGGCTAAGGCGGGAGGATTGCTTGAGCCTAGGAAGTCAAGGCTGCAGTGAGCCATGATTACACCAACTGCACTCCAGCCTGGGCAATGGAGCGAGACTCTATCTCTTAATAACGACAACAAGAACAAGATATTTGTGCACCTGGATCCAGCCATGCCTGAAGCTGTCATCAGTTACGTAATAACACATTTCCTTTTCACTGCTTGAACAGCTCCGAGATTGATTCCTGCCACTTACTGAATAAACAGGGAGGTTTCTGCCTGGTAAACCAACAGCCTTGGGGAACTTTCCCCCAAATACCTCCCACTTTCTGGATACTGACAAAGTGGCAGTCACCTAATTTCTCTGCATGGTTGCTACAGCCCTGAGGGTTGGCTGCACAATTCTCCTCCTTTTGTGGATGATAAGACAGAGACTCTAAGAGTTGGACTGATGTGTCTGGTGGAAGGTCGGGGGCTGGGGCTGGACCTTGGCATTCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTAATCTCAGCTCACTGCAACCTCCGCTTCCCTAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGAGGTTTACAGGCGCACGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAAGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGCGCCACCGCACCCTGCCTGGACCCTGGCGTTCTGAGAGTCCAGGATGAGCCATGGGAAGAAAGAGGCCCCCCCCCCCCAAGCCATTCTCCCCTGCCTGCCTGCGACCGCTTACCTGCTGCTCCATCGCAGCTTCGCTCTGTGATGCTAATCTTCTTCACCATATGGACGTTGCTGGTAGCTGCAGCGGGCACTGGGCACATTGTCTCCACCACCTCCTGGCTGCGGAACACAGGTGGGCTCTCAGGCCTACCAGGCATTGCCAGGGCCCTCAGCCCTGTGCCGTAAGGCTCCAGGCTCTGGGCCCGCTGTGCGGGGGCGCCAGCGGCTGTGCTGGCCACCACCTCCACCTCCCGTGGCCCTTCTACCACCCGGACTGTATCCACGCGGACCGGGCTGTCCGGCGGTGGCCAGGCCTGGGGCTGGGGGTCAGCCTGCCGGGCCTGAGCTGCCTGCAGCTCCTGCAGCGCCTTCTTGAGCTGGGTCTCCAGCACAGCGACCTTGGCGGCGAGGGCAGCCTCCCCATCAGGCATGCCCAAGTCCCGTTCTCGAACCCAGGTGCCCACACTCCGGGTCTCCAGTGCCACTGGGTCCTCTGGGGGATCGGGGAGGTCCAGGCAGAGCTCGCTGCGACCCCGGCCCGCTGTGGGGTGGCCCAGGAACTTCTGGCTCTTAAGTTGTACTGTGAGCTGCCGCTTTTCCTCCTGGAGCACCGAGAGCTTCACCTGGAGCACAGGGATCAGCTTCACCTGCTCCTCCAGCTGCCGCAGCTTCCGCAGGGCACCCGCCATCTGCTCCCGCACGTGGGCCAGGTGCCCGGCACCGGGAGGCACCGGTGTGGACAGTCCTGAACTCCGTGGTGTCGGGGGTGGCAACCCCACGCCCACCAGGGAGGCTGTCGAGCCGGCCGCACTGGGGGTCAGGGAGCCCAGGCCGGTGGGTGTGGCCGCCTGGTCCTCGAGACGGCGACGGGCATCCAGCAGCGTGCGCTCCACCCGCGGATTGAAGCCACCGCGGGTCTCCAGAGCACCATACTGAGGGTAGAAGCCACGGCCGCAGTAGGAATAGGCTGAGTGGCGGCTGTCCCCACTGGCATTGGAGCACAGCGACTCAGTGGACGTCCACCAGGAGCCAGGGCCACGGGGCAGCGAGCTCAGGCGGGGGCGGCGCTGCACTGCCACGCGTCGCAGCGTGTGGCCCTTCTCGATGTCATCCACGTACTTGAGGAAGTCCAGGTCCAGGCGGTAGCCATAGGGGGTCTCCACGGAGTAGGGTGGATCGGGGTCCTTGGCAGGGAAGGCAGGTGGGGAGGCTGGGCCAGGGGTCCCTGGGGATGGGAGAAACACCAGGACCTTTGAATCCTCTTGTCCCCATTCTCAGGGTGAAGACTGATGCCTGGGGAGAGTTGGGGTTTATTTGCCGAAGAGATGGGAGCCCACCTGGTACTCAACCGCGTCTGCTCTCAGACCCTCCAGAGCAGGGCTATGCCTCCCCTTCAGACTCCCGGCGCTAGGCTATGTCGCCTCTCAAATCCCCCAGGACAGGGCTCTATCCCTCGGCTTAGACTACCCCCTTTTTCCGGTAAGACTCTGCCTCCCCCTTCAGACCCTCCCAGGGCAGGACTCTGCCTCCTCCCTCAGACCTCTAATTGTTGGGCTGTGTCCCACCCTCAAAGTCCCCAGGGCAAGGTCCCCAGCCCCCTCAGGCCTCCAGAACTGAAGCTCCCCGGGGCAGGGCCCTCTTCCCTGAGTCCCCTGACCTGGGAAGGGAGCAGGCACGTGCAGGACCTGGGCCATCTTCTTTTCTACAGATGCTCCTTGGAAGTCACTTGAGGGACTGCGAGTCAGACTGCCTGCAGCACCGGCTGAGGCTTACCTGGGGAAAGAGAACCACGGCGCCGGGAGTTAGGAGTCTGTAGGGGGAGGGGAGGAGATGAGGCCAGCCCCCTCCACAGCTGGTTCACCCAGCCCCCCAACCCAGGTCTGGGACCCACTCATAGACGCACACCCAGCCTGGCTGCGGAAGGGCCCCCCCCGACCCCCTCCCCCCCGCAGGTCTGGAACAAAGAAACCAAACCTCACTGCCTGCTTGCACATCTGTCCAGGCCCTGGACAGGCTCCAGCTGTTCCCATAGCCCAGCCTCCACATAGCCCTGGGGCTGGGGGGCCCCAAGCCCAACAGGCCCCACCCTTCCTGCACCCCCTCCCCTCAGCCCAGGCCCGGAGCTGGCCACACGGAAGGATGGGGGTTGAGGCGCTAAGGGGTTGGGGAAGAAGGGAACCTCGTCTTCCTGCAAGGATCTGAGGAGACAGAGACGCAGGGGGACAAAGAGAGGCAAAGCATGGCGAAGGGGACCCCCAGTGACCCCAAAGCTGAGAGCTGGGTCAGGCCTGGACTGGGTCGGGGGGAAGGGGTAGGGAAAGTTGGGGAGGCAGCTAGGAGTGAAGCCTTTCCCCTTTATGGAAACAATTTTCTCTAAAAATAAACAGTTTCACTGCCGGGCTACACAGAACTTCCTGCCCGCCTAGGATGCGTCCGGGCCCAGGGGCGCAGTAGGGATAGAGGGCCGGGTGGAGGCCCAGGAAGTCCTGGGGGTGGAGGGGAGGAAGTAAGAGGGGGCGCCTGGAGGCTGCAAAAGGGAGGGACAGTCAGAGCCTCTCACTAAACCCCCCTCAGCCTTGGAGGCCGGCCAGGGCTCTTTTGTCCCCAATATAACCCATCTGAACTTGGCTGGTCCTTTCTGTTATCTGACCTCCAGCCATCATGCTGCAGAGGCCCCAGCCCATCCCACCATCAGAGTAAATCCTTTCTGGCCTTTGAGTGCTGGGGCCGGCAGGTACCTTGGGAGGATGGGCCAGGTAGGGCACCTGC 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Task1_train_26547 | A genetic alteration is present in DOCK6 (dedicator of cytokinesis 6) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; DOCK6-related disorder | AAAAAATCACATGGATATTTTACACTGGAAAAAAATATATAATATCTGAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGTGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCAGCCTCCTGCAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCTAATATCTGAAATTAAGAACTCAACGGATGGGGTCAACAGGACACTGGGCACAACAGAAGACATAAGTGGTGAACTCATAGACAAGTGAACAAAAAACTTCCCAGTTGGATTACAGAGAGGAAAGAATGGAAAAAACAGAACAGGACATAACAGATGTGATCAAAAGGCCTAATATATGTGTAATTGGAGTCCCAGGAGTGAAGAGTGAAAATGAGGCAGAAAAAAATTCAAGTGAGAATGGCTAAGAATTTCCCCAAACTGATGAAAGGCATCCACCCACAAATCCCAATTTTGTACTTCCAACCACTGTTATACCACCCCCCTCAACAATGCCTATAAATGTTTGTTGAAAATGAGTGAATGAATGTACTCCAATCATTTTCTCACTTGGATGTTCCCTACTTTTTGCTCTTCTTAGAAAATAATAAATGGTACAATAATATCTCCCATCTATTGTAGGCTGACAATATCTCAGTACTACAGCCCCCCACATTTTCACATAACCTTATGAAGTAGTTGGTGTTGTTACTGTCTCCATTACAGGGGAGAAACCTGAGGCTCAGAGATGTTATGACTTAAGTAGTCTGTCCTAGCACTTTAACCTGCTCTGCTAATCCTAATGTCTATACTCATACCAGTGACTGTGTTCTCCCACCTTTACTATCCTGTGCCTTCTGTGACCAAGTCCCTGGATCATGTGACCCCATCTTCCCCTGGCCCACTGACCAGCAAAGTCATGCAGCCGTGGCAAGGTATCCCGTGCAATCGATAGCAGTGGCAGGTACAGCTCGGCCACACGAGCCTTCACAGTGGCCTCGGCGTAGCGGGGGTCAGTGTCATGGCCACATAGCAGGCTGTGCACAGCACTGATGGCCTTCTTGTGCAACAGGAATGCCCTATGGGGTAATGAGGTGCTCAGGACAGGGTGGACATGGCTCCTGGACTGTCCCACCTGTCCTGGGGCTAGACAGGAGCTCTGCTCACCCTTCAGCCTCAGGTTCGAGGGCCAGTGCCAGCTCCGTCAGCAGGAGCCCAGCTAGGAAGTGCTGCTGCCGGAATGGTCCACTCAGTTCGAACATGCTGGTCACCTTGGGGTCCGGGGCTTGGCTGGAGAAGGTGGAGCTCTGCAGAGTGGGGGAAAAATGGGGGATGCCAGCGGTCAAGGGTCAGAGGTGGCAGGTCACCATTAAAGCCATCTTGGAGGTGACAGAAATCATGGTGCCAATAGCCACAGATGAAAGACTGATGTTAAGTCATCTGGAGGTGACAGTGGGCATGGGTTTCAAGGCCAGAAGTGAGGGGCTGACGTTAACCCATCTGTGATGTAACAGGGCACGGAGTCAAAAGTCAGAGGACTGAGAAATAGCAGATGGAACACTGGGCTGGGAGTTAGGATTTAGGGGAGAGAAATCAGAGGTTAGTCCTTCTGGGAAATTGCTGAGAATGGCAAGAGAGGTGAAGGGTCAGAAGTCAAAAGTCAAACATAAGGGATTAGTTCACCTAGGCAGTGGTCCACCGTGAAAGGGACAGAGATGAGGGAACCATAGGAGATGGACTGAAGGTGAGAGGTTGTAGGTCAAAGAGAGGAGGCAGAAGTGAAGGCAGCCCACCTGGGAGGTGGTGGAGGACACAGAGGGGGAGGGCGAGGCTGGAGGTGACAGGGGGCAGCAGGGGAGGTTGAGGGTCACGTAGTGCTCGTGGCTGCACAGGATGCGGGTGAATTCCATGCGCAGGGTCAGCAGGGCTGCTGGATTAGGGGACGACTGGAGCCGCGTGGCCACCTGCAGGAGAGGGGTGGCCATCAGTGATGTCAACATTGCTCCGCCTTCCATCCATGCCATGCCCACCCTGCCCACGCCCACTCCTACCTGCTTGTAGTGGGCCCGGACCAGGCTGAAGACAAAGCCCCGGTCCACCAGGGACAGAAGGTCACTGAGGAAGAAAGCCAGGCTGGCGTTGAGGTGCTCGGCCAGCTCCACATCCTGGGGACACAGGTGCCTGTCAACCCACACACCCAAACCTCAGCCCCGACAGGGGCTTGGCTCTCACCAAGATCATCTGCCACCCCTAGGAGCTGTATCACTGCCCCAAAGCCTTTGTCTGTGGGCTGTGGTGACTCTGGGACTTCCTGGTTGTCCTCCTCAGGCTGCCTTCCCCTCCCATGCTCCTTAAGACACCAAGGCAGATATGGGCTAACTCCCTGCAAGATCCTCTCGCTCTCTCTGTCCAGAGTTCAGAGCTGGGGAGAGACTATATTTCCCAGCCTCCCTTCCAGTTGAACCACATGACCAATTCTGGCCAATGGGATTTGAGGGGAAAGTGAGGTGGCCACTTATATGGCAGAAGCAGGTGGGTGCCGGGGAACTGCCAGGGCCAGGCCCACACAGTGATGCCTCTACAACCTACTTAATACTCAGAAATAAGCTATGGTTATTTAAATCACTTGTGACTGTGTTGAAGCGAATTAGCCTCTGCCCTAACTGATCGACTCTTACCATCATTTATTTTTATTTTAATTTTAATTAATTAATTTATTTTTTGAGATGGAGTCTTGCTCTGTCACTAAGGCTGGAGTACAGTGGCACAATCTCGGCTCACTGCAACTTCTGTCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCTTCCCCAGTAGCTTGGATTACAGACACCCACCACCACGCCTAGCTAATTTTTTTATTTTTAGTAGAGATGGGGTTTTGCCATATTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCTTCCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGATACCGCACCCGGCCTCTCAGCACCATTTAATGTGAGCTTTACTGAGCATCTACTCTGTGCCAATCCCTGTGAATGAGGCAGATGCCATCCCTGCTGCGGGTCCAACTCAATCCAGTGTGTGTGTGTGGGGCGGGGGCAGGGAGACACAAAATAAACAAGAATTTCAGATAGTTCTATGTGCTTCAAAGACAATATTAAATTGGTGCAAAAGTAATTGCAGTTTTGCAATTACTTTCAATGGCAAAAACTGTAATTACTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTATAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGATTACAGGTGCGCACCACCACACCTGGCTAACTTCTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGTAAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCTCCTCGGCCTCCTAAAGTGTTGGGATTACAGGCGTGAGCCACCATGCCCAGCCTATAATTACTTGTCACCAACCTTAACAGACGGGGGTGACATTTTCAGAGATACTGAAGGATACCAAAGAGCCATGGGGAGAATGGCATCCTGGGTTAAGGGAACAGTCAGTGCAAAGGCCCTGAGGCAGGATGTGCCTAGCAAGTCCGGGGAACAGTGAGGTGGCTGATGTGGCCCTGAGGCCCAGCTGGTATTCGTTCTGCCCTCATACTCTCTTGAGCCACTCTGAGGCCTCACAAGTTAGCCTCAGTGGCCCTCAAATCCCTGCAACCCGGCCAGGCATGGTGGCTCCTGCCTGTAATCCTAGCACTTTAGGAGGCTGAGGTGGGTGGATCACAGGGTCAGGAGTTTGAGATCAG 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AAAAAATCACATGGATATTTTACACTGGAAAAAAATATATAATATCTGAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGTGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCAGCCTCCTGCAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCTAATATCTGAAATTAAGAACTCAACGGATGGGGTCAACAGGACACTGGGCACAACAGAAGACATAAGTGGTGAACTCATAGACAAGTGAACAAAAAACTTCCCAGTTGGATTACAGAGAGGAAAGAATGGAAAAAACAGAACAGGACATAACAGATGTGATCAAAAGGCCTAATATATGTGTAATTGGAGTCCCAGGAGTGAAGAGTGAAAATGAGGCAGAAAAAAATTCAAGTGAGAATGGCTAAGAATTTCCCCAAACTGATGAAAGGCATCCACCCACAAATCCCAATTTTGTACTTCCAACCACTGTTATACCACCCCCCTCAACAATGCCTATAAATGTTTGTTGAAAATGAGTGAATGAATGTACTCCAATCATTTTCTCACTTGGATGTTCCCTACTTTTTGCTCTTCTTAGAAAATAATAAATGGTACAATAATATCTCCCATCTATTGTAGGCTGACAATATCTCAGTACTACAGCCCCCCACATTTTCACATAACCTTATGAAGTAGTTGGTGTTGTTACTGTCTCCATTACAGGGGAGAAACCTGAGGCTCAGAGATGTTATGACTTAAGTAGTCTGTCCTAGCACTTTAACCTGCTCTGCTAATCCTAATGTCTATACTCATACCAGTGACTGTGTTCTCCCACCTTTACTATCCTGTGCCTTCTGTGACCAAGTCCCTGGATCATGTGACCCCATCTTCCCCTGGCCCACTGACCAGCAAAGTCATGCAGCCGTGGCAAGGTATCCCGTGCAATCGATAGCAGTGGCAGGTACAGCTCGGCCACACGAGCCTTCACAGTGGCCTCGGCGTAGCGGGGGTCAGTGTCATGGCCACATAGCAGGCTGTGCACAGCACTGATGGCCTTCTTGTGCAACAGGAATGCCCTATGGGGTAATGAGGTGCTCAGGACAGGGTGGACATGGCTCCTGGACTGTCCCACCTGTCCTGGGGCTAGACAGGAGCTCTGCTCACCCTTCAGCCTCAGGTTCGAGGGCCAGTGCCAGCTCCGTCAGCAGGAGCCCAGCTAGGAAGTGCTGCTGCCGGAATGGTCCACTCAGTTCGAACATGCTGGTCACCTTGGGGTCCGGGGCTTGGCTGGAGAAGGTGGAGCTCTGCAGAGTGGGGGAAAAATGGGGGATGCCAGCGGTCAAGGGTCAGAGGTGGCAGGTCACCATTAAAGCCATCTTGGAGGTGACAGAAATCATGGTGCCAATAGCCACAGATGAAAGACTGATGTTAAGTCATCTGGAGGTGACAGTGGGCATGGGTTTCAAGGCCAGAAGTGAGGGGCTGACGTTAACCCATCTGTGATGTAACAGGGCACGGAGTCAAAAGTCAGAGGACTGAGAAATAGCAGATGGAACACTGGGCTGGGAGTTAGGATTTAGGGGAGAGAAATCAGAGGTTAGTCCTTCTGGGAAATTGCTGAGAATGGCAAGAGAGGTGAAGGGTCAGAAGTCAAAAGTCAAACATAAGGGATTAGTTCACCTAGGCAGTGGTCCACCGTGAAAGGGACAGAGATGAGGGAACCATAGGAGATGGACTGAAGGTGAGAGGTTGTAGGTCAAAGAGAGGAGGCAGAAGTGAAGGCAGCCCACCTGGGAGGTGGTGGAGGACACAGAGGGGGAGGGCGAGGCTGGAGGTGACAGGGGGCAGCAGGGGAGGTTGAGGGTCACGTAGTGCTTGTGGCTGCACAGGATGCGGGTGAATTCCATGCGCAGGGTCAGCAGGGCTGCTGGATTAGGGGACGACTGGAGCCGCGTGGCCACCTGCAGGAGAGGGGTGGCCATCAGTGATGTCAACATTGCTCCGCCTTCCATCCATGCCATGCCCACCCTGCCCACGCCCACTCCTACCTGCTTGTAGTGGGCCCGGACCAGGCTGAAGACAAAGCCCCGGTCCACCAGGGACAGAAGGTCACTGAGGAAGAAAGCCAGGCTGGCGTTGAGGTGCTCGGCCAGCTCCACATCCTGGGGACACAGGTGCCTGTCAACCCACACACCCAAACCTCAGCCCCGACAGGGGCTTGGCTCTCACCAAGATCATCTGCCACCCCTAGGAGCTGTATCACTGCCCCAAAGCCTTTGTCTGTGGGCTGTGGTGACTCTGGGACTTCCTGGTTGTCCTCCTCAGGCTGCCTTCCCCTCCCATGCTCCTTAAGACACCAAGGCAGATATGGGCTAACTCCCTGCAAGATCCTCTCGCTCTCTCTGTCCAGAGTTCAGAGCTGGGGAGAGACTATATTTCCCAGCCTCCCTTCCAGTTGAACCACATGACCAATTCTGGCCAATGGGATTTGAGGGGAAAGTGAGGTGGCCACTTATATGGCAGAAGCAGGTGGGTGCCGGGGAACTGCCAGGGCCAGGCCCACACAGTGATGCCTCTACAACCTACTTAATACTCAGAAATAAGCTATGGTTATTTAAATCACTTGTGACTGTGTTGAAGCGAATTAGCCTCTGCCCTAACTGATCGACTCTTACCATCATTTATTTTTATTTTAATTTTAATTAATTAATTTATTTTTTGAGATGGAGTCTTGCTCTGTCACTAAGGCTGGAGTACAGTGGCACAATCTCGGCTCACTGCAACTTCTGTCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCTTCCCCAGTAGCTTGGATTACAGACACCCACCACCACGCCTAGCTAATTTTTTTATTTTTAGTAGAGATGGGGTTTTGCCATATTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCTTCCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGATACCGCACCCGGCCTCTCAGCACCATTTAATGTGAGCTTTACTGAGCATCTACTCTGTGCCAATCCCTGTGAATGAGGCAGATGCCATCCCTGCTGCGGGTCCAACTCAATCCAGTGTGTGTGTGTGGGGCGGGGGCAGGGAGACACAAAATAAACAAGAATTTCAGATAGTTCTATGTGCTTCAAAGACAATATTAAATTGGTGCAAAAGTAATTGCAGTTTTGCAATTACTTTCAATGGCAAAAACTGTAATTACTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTATAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGATTACAGGTGCGCACCACCACACCTGGCTAACTTCTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGTAAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCTCCTCGGCCTCCTAAAGTGTTGGGATTACAGGCGTGAGCCACCATGCCCAGCCTATAATTACTTGTCACCAACCTTAACAGACGGGGGTGACATTTTCAGAGATACTGAAGGATACCAAAGAGCCATGGGGAGAATGGCATCCTGGGTTAAGGGAACAGTCAGTGCAAAGGCCCTGAGGCAGGATGTGCCTAGCAAGTCCGGGGAACAGTGAGGTGGCTGATGTGGCCCTGAGGCCCAGCTGGTATTCGTTCTGCCCTCATACTCTCTTGAGCCACTCTGAGGCCTCACAAGTTAGCCTCAGTGGCCCTCAAATCCCTGCAACCCGGCCAGGCATGGTGGCTCCTGCCTGTAATCCTAGCACTTTAGGAGGCTGAGGTGGGTGGATCACAGGGTCAGGAGTTTGAGATCAG 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Task1_train_26548 | The gene DOCK6 (dedicator of cytokinesis 6) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Adams-Oliver syndrome 2 | AAAAGGGGAAACTGAGGCACTGAAGTTTTTTGTTGGTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGGAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTTAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGTGCCACCATGCCCAGCTAATTTTTTGTGTTTTTAGTAGAGACAGGGTTTCTATGTATGTATTTATTTATTATATAGAGACGGGGTCTCGCTGTGTTGCCCAGGCTGGTCTCAAACTCTTGGGCTCAAGTGATGCCCCCGCCTCTGCCTCCCAAAGTGCTGGGATAATAGGCATGAGCCATCACGTCCCCGGCTTGCTGTGAATTTTTTATTTTATTTTTTTAGACAGAGTCTCCCCTGTTGCCCAGGCTGAAGTGCGTGGTGGGATTTCACCATGTTGGCCAGGCTGGTCCCACCCGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGCGTGAGCCACCGCGCCCCGCCGACACTGAAGTTTTTTTCCCCCTCCCTACACCCTCAGTAAGTAACTCACACAGAGCTCCTCCTCCCTGCAACCACGGCCCTTGTTCCGTTGGCATGGGGGCAGTTTTGGGCTCAACAATCCCCACATCTTGAAATTCTCAACTTCCGGGTTTCCCCATCCCTCCTTTCTGGGGTGTCATCTGCCGCCATTGTCACTCTGCACGGAGTTCCCATCTCGCTCACCTGAACGGCCACCATAAAAGTCCTTCCCTGTCTTACTCCACCTTGCTGGCCTCCGCTCACCACGCACCTCCAAACTGAAACACTGAGCACTCCCCGTTACACCCCTTCCATCCTCTCTATTCAGCCAGCTCCTCTTCCTCACTGGGTCTCCATGTACACGTCCCCCTGCAAGGGAAGCTGTCCCAGATACCCGCTCGCACCCCTCAAGCTGGGCCAGGGGACTCCTCCAGGACTCTAGGCACTTTCAGCATCGCTTATCCCGGCTCTGTGTGGTCATCGCATGGTTATGTGTCCTGTATACAGTAGGGACTTCATAAATGTTTTATTTTTGTTTCTTTGTTTGTTTGAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGAAACCTCTGCCCTCCGGGTCAAGAGATTCTCCCGCCTCAGCCTCCCAAGTAGTGGGGATTACAGGTGCCTGCCACCACGTCTGGCTAATTTTTTTTTTTTTTTTTCAGTAGAGATGGTGTTTTGCCATGTTGGCCAGGCTGGTCTCAAATTCCTGAGCTCAGGTGATCCGCCCGCCTTGGCTTCCCAGAGTATTAGGATTACAGGTGGGAGCCACCGTGCCCGGCCAATAAGTGTTTGTTGAATGACTGGATGAGCCCACAGAGCCAGGTCCCAATCCTTGTGTTTAGGGCAGGAGGCCCACCCAGGCCTCAGGCCAGAATGGAGCCTCCCTTTCCTGCCCCGATCCAGGCAAGAACTCGGGGTGGGGAGCGGCAGGGCCAGGCTCAGGTCCAAGTCCACATCCTGTTCAACTCTGTTCCCACGCACTTCTGCTGCTCCCCGGGGGCTGGTGTGGAGGGGCCCTGGGCGGCTGAGAGCCAGGCCCAGGGTCACTAGCACCCGCCCCAAAGCCTCCCGGCCAAACCCTGGATCCCAGCAGCAGAGCAGGCAAGCGCCAGACTCCAGCCTTACAAGTTGTATGGTCTTGGCGTCATGTCACCACTCTGTGCCTCAGTTTCCCCACCTGTGCCCACTTCATGAGGTTGTGGTGAATATAAGACGGGTTCATATACATGAAAGGCTGAGAACTGATCCTGGCATACAATTGGCACTTAAGGATTGGAGACTCGGGATAATGAAAAAGGAAGTCTTCCTTCCCCCATAAAAGCCCATACATAGGTGGCCACATAGGTGACAGGGCCGCACACGGTAATGGCACTACTCATGTAGTGTGTACCCCGCCGGAACCCATGTGGTTGCTTCACGCATCTAAGAAGAGAGACATGTCAGTATACTCACTTGAGCGACAGACACTTGACCAAGATCCTTTGTCCAAAGTGCTCGCGGGGTGGCTCTGGGCGGCTACAGCGTTCCACGGCTTCATCCTGCCAAGAGTGGGGGGTGGGAGCTGGGCGGGAGGAGCTGGGACATCCTCCAGGAAGGGTCTGGAATGCCCAGCCTCAGACCAGCTCTACCCCAGCCTGACTAACCGTCTTTCCATCCCTGCCTCTGAGCCTTTACACGTGCTGTTCCCCTGCCTGGAATGCCCATCTTCTCCCACTCCTCCTTGTCTCGCTAATGTCTGCTCACTGTTCATATATACTTCTACTATATAGAGGTATATAGTAGGTGTCCATATATAGAAGCTTATTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCATGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTGCAGCTTAGCCAACACTTCCTCCAGGAAGTCCTCCCTGACCCCTGAGGCCTGGGCAGGCACCTCTTTCGGGTGCCCACAATGTCCTGGTGTAAGGAGCCATGGTGGCTGGGACACTGAGGACCGTGTGAGGGACAATTACCAGCACCTCATCATGGCACTACTCTGTCTGGGTTATACGTTCCTAGTAGAGAGGTCTCTCCTCCGCTAGTGAACTCTGAAGGCAGGGACTGGGTCTCTCTATTCATGGCTATATCCCCAATGCCAACAATACAGTGGGTACCCAAACATGTTAGTCGAATAATTATAGAGGTATACAATAGGTACCTACTAAAAGTTAGTTGGATGAACATAAGCATATACAGAAAGCATTCAATAAATGTTGACTGGAGATATAGGGATATACACCCAATAACGCACCCAGTAAGTACTGATTGAATAAATATGGGTGTATATAGTAAGCACTCAATAAATGGCCAAATACAACCACAGGAGTATATACTAGGTACCAAATAAATGTTGGTTGGATAAAAATAGACATATGTGGTAGGTGTTCAATAGATATTGGTTGATTAAATAGAGAACTATACAGTAGGCATTCATGTATTGAATAAATATAGGGATATACAGTTGGTACCCAATACATGCTTGTTGGATAAATAATTTTTAAAAATTTATTTTCTGGCCAGGCGCAGTGGCTCATGCCTGTAATACCAGCACTCTGGGAGGCTGAGGCGGGCAGATCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTATCTCTACTAAAAATACAAAAATTAGCCAGGCATAGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATGGCGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTTGTCTCAAAAAAAAAAATTTATTTTATATATTTTTTTACCTTTCCTATGGTGTTGATGGTTGGATAAATATAGGAGTATATAGTAGGTGTCCATATATAAAAGCTATTGAGGCCAGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCCAAACCCCGTCTCTACTAAAAAAAATACAAAATTAGCCGGGCGTGGTGGCTGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATAGCGCCACTGCAGTCCAGCCTGGGCGACAAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGCTATTGAATAAACACAGGGGATAGAGTAGGTGCCCAATAAATACTGGTTAGCTAACTATAAAGGTATATAGTAGGTGTCCATATACAGAAGCTATCTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAATGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCCTAGGTTCAAGTGATTCTCCTGTCTCAGCC 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AAAAGGGGAAACTGAGGCACTGAAGTTTTTTGTTGGTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGGAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTTAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGTGCCACCATGCCCAGCTAATTTTTTGTGTTTTTAGTAGAGACAGGGTTTCTATGTATGTATTTATTTATTATATAGAGACGGGGTCTCGCTGTGTTGCCCAGGCTGGTCTCAAACTCTTGGGCTCAAGTGATGCCCCCGCCTCTGCCTCCCAAAGTGCTGGGATAATAGGCATGAGCCATCACGTCCCCGGCTTGCTGTGAATTTTTTATTTTATTTTTTTAGACAGAGTCTCCCCTGTTGCCCAGGCTGAAGTGCGTGGTGGGATTTCACCATGTTGGCCAGGCTGGTCCCACCCGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGCGTGAGCCACCGCGCCCCGCCGACACTGAAGTTTTTTTCCCCCTCCCTACACCCTCAGTAAGTAACTCACACAGAGCTCCTCCTCCCTGCAACCACGGCCCTTGTTCCGTTGGCATGGGGGCAGTTTTGGGCTCAACAATCCCCACATCTTGAAATTCTCAACTTCCGGGTTTCCCCATCCCTCCTTTCTGGGGTGTCATCTGCCGCCATTGTCACTCTGCACGGAGTTCCCATCTCGCTCACCTGAACGGCCACCATAAAAGTCCTTCCCTGTCTTACTCCACCTTGCTGGCCTCCGCTCACCACGCACCTCCAAACTGAAACACTGAGCACTCCCCGTTACACCCCTTCCATCCTCTCTATTCAGCCAGCTCCTCTTCCTCACTGGGTCTCCATGTACACGTCCCCCTGCAAGGGAAGCTGTCCCAGATACCCGCTCGCACCCCTCAAGCTGGGCCAGGGGACTCCTCCAGGACTCTAGGCACTTTCAGCATCGCTTATCCCGGCTCTGTGTGGTCATCGCATGGTTATGTGTCCTGTATACAGTAGGGACTTCATAAATGTTTTATTTTTGTTTCTTTGTTTGTTTGAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGAAACCTCTGCCCTCCGGGTCAAGAGATTCTCCCGCCTCAGCCTCCCAAGTAGTGGGGATTACAGGTGCCTGCCACCACGTCTGGCTAATTTTTTTTTTTTTTTTTCAGTAGAGATGGTGTTTTGCCATGTTGGCCAGGCTGGTCTCAAATTCCTGAGCTCAGGTGATCCGCCCGCCTTGGCTTCCCAGAGTATTAGGATTACAGGTGGGAGCCACCGTGCCCGGCCAATAAGTGTTTGTTGAATGACTGGATGAGCCCACAGAGCCAGGTCCCAATCCTTGTGTTTAGGGCAGGAGGCCCACCCAGGCCTCAGGCCAGAATGGAGCCTCCCTTTCCTGCCCCGATCCAGGCAAGAACTCGGGGTGGGGAGCGGCAGGGCCAGGCTCAGGTCCAAGTCCACATCCTGTTCAACTCTGTTCCCACGCACTTCTGCTGCTCCCCGGGGGCTGGTGTGGAGGGGCCCTGGGCGGCTGAGAGCCAGGCCCAGGGTCACTAGCACCCGCCCCAAAGCCTCCCGGCCAAACCCTGGATCCCAGCAGCAGAGCAGGCAAGCGCCAGACTCCAGCCTTACAAGTTGTATGGTCTTGGCGTCATGTCACCACTCTGTGCCTCAGTTTCCCCACCTGTGCCCACTTCATGAGGTTGTGGTGAATATAAGACGGGTTCATATACATGAAAGGCTGAGAACTGATCCTGGCATACAATTGGCACTTAAGGATTGGAGACTCGGGATAATGAAAAAGGAAGTCTTCCTTCCCCCATAAAAGCCCATACATAGGTGGCCACATAGGTGACAGGGCCGCACACGGTAATGGCACTACTCATGTAGTGTGTACCCCGCCGGAACCCATGTGGTTGCTTCACGCATCTAAGAAGAGAGACATGTCAGTATACTCACTTGAGCGACAGACACTTGTCCAAGATCCTTTGTCCAAAGTGCTCGCGGGGTGGCTCTGGGCGGCTACAGCGTTCCACGGCTTCATCCTGCCAAGAGTGGGGGGTGGGAGCTGGGCGGGAGGAGCTGGGACATCCTCCAGGAAGGGTCTGGAATGCCCAGCCTCAGACCAGCTCTACCCCAGCCTGACTAACCGTCTTTCCATCCCTGCCTCTGAGCCTTTACACGTGCTGTTCCCCTGCCTGGAATGCCCATCTTCTCCCACTCCTCCTTGTCTCGCTAATGTCTGCTCACTGTTCATATATACTTCTACTATATAGAGGTATATAGTAGGTGTCCATATATAGAAGCTTATTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCATGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTGCAGCTTAGCCAACACTTCCTCCAGGAAGTCCTCCCTGACCCCTGAGGCCTGGGCAGGCACCTCTTTCGGGTGCCCACAATGTCCTGGTGTAAGGAGCCATGGTGGCTGGGACACTGAGGACCGTGTGAGGGACAATTACCAGCACCTCATCATGGCACTACTCTGTCTGGGTTATACGTTCCTAGTAGAGAGGTCTCTCCTCCGCTAGTGAACTCTGAAGGCAGGGACTGGGTCTCTCTATTCATGGCTATATCCCCAATGCCAACAATACAGTGGGTACCCAAACATGTTAGTCGAATAATTATAGAGGTATACAATAGGTACCTACTAAAAGTTAGTTGGATGAACATAAGCATATACAGAAAGCATTCAATAAATGTTGACTGGAGATATAGGGATATACACCCAATAACGCACCCAGTAAGTACTGATTGAATAAATATGGGTGTATATAGTAAGCACTCAATAAATGGCCAAATACAACCACAGGAGTATATACTAGGTACCAAATAAATGTTGGTTGGATAAAAATAGACATATGTGGTAGGTGTTCAATAGATATTGGTTGATTAAATAGAGAACTATACAGTAGGCATTCATGTATTGAATAAATATAGGGATATACAGTTGGTACCCAATACATGCTTGTTGGATAAATAATTTTTAAAAATTTATTTTCTGGCCAGGCGCAGTGGCTCATGCCTGTAATACCAGCACTCTGGGAGGCTGAGGCGGGCAGATCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTATCTCTACTAAAAATACAAAAATTAGCCAGGCATAGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATGGCGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTTGTCTCAAAAAAAAAAATTTATTTTATATATTTTTTTACCTTTCCTATGGTGTTGATGGTTGGATAAATATAGGAGTATATAGTAGGTGTCCATATATAAAAGCTATTGAGGCCAGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCCAAACCCCGTCTCTACTAAAAAAAATACAAAATTAGCCGGGCGTGGTGGCTGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATAGCGCCACTGCAGTCCAGCCTGGGCGACAAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGCTATTGAATAAACACAGGGGATAGAGTAGGTGCCCAATAAATACTGGTTAGCTAACTATAAAGGTATATAGTAGGTGTCCATATACAGAAGCTATCTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAATGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCCTAGGTTCAAGTGATTCTCCTGTCTCAGCC 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Task1_train_26549 | Here is a variant affecting ACP5 (acid phosphatase 5, tartrate resistant) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Spondyloenchondrodysplasia with immune dysregulation | CTGCTTGGATTTTATTTTTTTTTTATTTTTTATTTTTTTGAGATGGAGTCTCGCTCTTTCACCCAGGCAGGAGTGCAGTGGCGCTATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGCCGCCACGCCTGGCTAATTTTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTAGTCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCGGGTTTTATAATCACATCCATGGATAAGGCAACTTGGTCATGGATGGGGTAAGAGATGGAGGCAAGGAACAGCAGCTCAGGGGAGCCCAGCCACTCTAACCAGGAGAACATAACACACCAGTGGCACTGGTTCAGCCTTGGCAACTATTCTTTTATTGAACATCAGTAACAGAAAGATGCTTGATTTAGGAGGAAGCTTTCCCTCCCTCCCTCCCCCATTGCACCCCGGAACTCAGCAAAGGTGAGCCAGCCACAGAGCATAACACTGTGGCTGGGACACATGTCCATGTGTGTTTCACATACGTGGGCATCTGTGCCACAAGGGTCATGTGGCACCACAGTTCATCAGCTGTGTTTCCCCTTCCTGCCCTGCTGCAGCGCCACAGGTTGGAGGAAAAGCCTGCCTGTGAGCAGGGTCCCGGCAGGGCCCACCCACCCAACAGTGGAGATCGGGCCTCAGAGCTGGGCAGTCATGGGAGTTCAGGGCCTGGCTCGCCTCGGCAGCCTGGTCTTAAAGAGGGACTTGCCCGAGGCCTCGATGTAAGTGACAGTCATCTCTTTGGAGCTGATCTCCACATAGGCAAAGCCACCCAGTGAGTCTTCAGTCCCATAGTGGAAGCGCAGATAGCCGTTGGGGACCTTGCGCTGGTGCCGCTTTGAGGGGTCCATGAAATTCCCAGCCCCACTCAGCACGTAGCCCACGCCATTCTCATCTTGCAGGTACTGAGGATGGAGGACAAGGGGTCAGTGGAGACCCAGCTTTGAGCAGAGCCCTGCCTAAGGTCCAGGGCTCGATCTGGCCCTAACCACAGAGTCACCTTGAGGTATGTAACCCCTCCTGGCTTCAATTTCCTGACTTTTAGGAGTGTATTAATCCTATTTCATAGGTAGAGCACTTAGTAAGAAATTGGTGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGGGGTGGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGCAACATAGTGAGACCTTGCCTCTACAAAAAAAATGCGCAAGGGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGAGGTCAGAAGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAATATAAAAATTAGCAAGGTTTGGTGGCCCATGCTTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGTTGAGATCGTGCCACTGCACTCCCTCTCAAAAAAAAAAAAAAAAGCAAAAATTAGCTGCATGTGGTGGCCCATGCCTGTAGTGTCAGCTACTCTGGAGGCTGAAGTGGGAGGTTCACCTGAGCCCGGGAGATTGAAGCTGCAGTAAGCCCCGATTGCACCACTGCACTCCAGCCTGGGTGAAAAACAATGAAACCTTGTCTCCAAAAAAAAAAAAAAAAAAGAGCTTAAAAAAGAAAGAAAGAAAGAAATTGGCAATTCGAAGATATTATTCTGGCTTTGGAGTGTTTTCCTGGTTAGACAGCAAGATTTGAGGGACAGTCTAGACATTCTGAAGGCCACAGGAGACCCTCAAACAGCAGGAGGACCCCAGCCATGTGGACATCAGCTGGGATGGGGACCCCCCTCACCCAGCTCCCACCCCACCCACAGGGCCCTCACCTGCAGATTGTGATCGTGGCCGCACAGGTAGGCAGTGACCCCGTATGTGGCCAGCAGTGGCCGTAGCTGCTTGACCAGGCAGTGGGTAGGCCCGTGCTCGGCTATGGACCACACGGGGTAGTGGCCAGCCACCAGCACGTAGTCCTCCCTGGCCGCCGCCAGCTGTTTCTTGAGCCAGGACAGCTGTGTGCGGGCCAGCTTCACGTCTCGGGGCCTCTCAGGCTGCTGGCTGAGGAAGTCATCTGAGTTGCCACATAGTGTCACTGTGTCCAGCATAAAAATGGCCACAGACACATTGGTCTGTGGGATCTTGAAGTGCAGGCGGTAGAAAGGGCTGGGGAAGTTCCTGTGGAGGGGATAGAGGTCGTGGGTGCACATCTTGGGCGCAGAAGTCCCAGGGTCAGCTCAAGCCACAGGGCCCCTGTGTCCCTGCTATGTGAGGATCTCGGAAGGCAGGGCTGAGGGTGGCTCACCAGCGCTTGGAGATCTTAGAGTATGCAATCTGGGCAGAGACATTGCCAAGGTGGTCATGGTTTCCGGCTAGCACGTACCAGGGCACTTTGCGAAGGGAGCGGTCAGAGAATACGTCCTCAAAGGTCTCCTGTAGCAAACAGATAGGGCAGGCCTCTTCCCTGGGGTCAGTGGCTATGCCGATCCTCCCACCAAGTCAGGATAAGGGAGACACTGAATGCTCCCGGCGCCCAAAGGTGCCCCATCACCTTCCCTCTGCCCTCACCAAAGGAAGGTCACTAGGTAAGGCGGCTTCTCCCCACTGCCCGCCCCCACCTCCTGCCCCACTCTGTTGGGCACAGACCTGGAACCTCTTGTCATTGATGTCTTGCACACCAGTGAAGTAAAAATTGTCCCCTAGAGACAGGATGAAGTCTGCACCCAGGATCTGCACAGTCCGAGCGATCTCCTTGGCATTGGCCATTTCCCGGGCCGTGTGGAATGGGGCATTGGGGACCCCTCCCCAGTCACCCACGGCTACAAAGCGCAGGGCAGGGGTGGCACCATCAGCCAGGGAGGGTAGCAACAAGGCTTGCAGGATGAGCAGCGCCGTCCACATGTCCATCTGGGAGAAGAGAGACAAGCATAGGTGGCCCGGGCTGTGACAAGGGCAGGGAGGCCTTGAGACCCCCGCCTGCCCTGAGATAGAGGGAGACTGCTTGCTGCAGGCTGCCCCTGCGGGAACCCCTTGGTGCCCTAATTCTCAGGACACACAAGCTGCACAAGGCTGCACAAGCTGGCTTAGGGAAGGGGGGCGCGGTCTGTGAGAGGGCGAGCTGTACCAAGATGGCCCTGCAGGCCCATTTCACCCTCCTTCCACCTAGCCTGCCCAGCACTCACCCAGGGGGAGACACAGGCCAGTCACCGGAGGCTCTGAGAGGCTGGTGGGCTCTAGAGTAGAACTGCCGGTCCCTGAGCCTTTATTCCCTGAGGAGGAAGTGGATCATTAGTGAGGATGATGCAGTTTCTCCGAGGGCTGTCCCGGGAGCCCTCCCCTTGGGTCATGTGAGCCCTGGACTTCCCTGGAGCAGGACACGGGATTGGGGTGGGGGTGGGAGGATCTGGGCACACGTGTGCAGCAGCCTCGGCCCACACAGCCTCCGGGTGGACCTGCAGGGGCCTGTTTGTGCTGTAGGCTTGACACGTCCAGGTATCTCTGTGTGTCTGTGTATCTCAGTGTGAGTGTGTGTGTGTGTGCACACTTGAGAGGCTGTGGCTGTGATTACCCAAGACACATCTCCTGCACCTTCTTTCTCTGAGTAAGGGCTTACCTGTGTGTGTCTGGGTGTGTCTTGCTTCCTGCGTGCAGCTGAGCATGCCTACCTGGGCCTCGGCTCTGTACCTGATGGTGTTGCTGCAGACATGTATGCTGAGCCTGCGAGGCCTGTGTGGCTTGTCTGCGATGCACGCCTGTGTTCTCACGTGGCACTGGGTGGGAATCCCTATGGATGGAGTTTTGTGTGTGTCCATGTGTGTGTGCCTGGGTTGCATCTCTAGGATGGGTTGCGTGTCTGGTGTGGGAGCTGTGTTTGACAACATCTGGGTGGGGGAC 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CTGCTTGGATTTTATTTTTTTTTTATTTTTTATTTTTTTGAGATGGAGTCTCGCTCTTTCACCCAGGCAGGAGTGCAGTGGCGCTATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGCCGCCACGCCTGGCTAATTTTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTAGTCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCGGGTTTTATAATCACATCCATGGATAAGGCAACTTGGTCATGGATGGGGTAAGAGATGGAGGCAAGGAACAGCAGCTCAGGGGAGCCCAGCCACTCTAACCAGGAGAACATAACACACCAGTGGCACTGGTTCAGCCTTGGCAACTATTCTTTTATTGAACATCAGTAACAGAAAGATGCTTGATTTAGGAGGAAGCTTTCCCTCCCTCCCTCCCCCATTGCACCCCGGAACTCAGCAAAGGTGAGCCAGCCACAGAGCATAACACTGTGGCTGGGACACATGTCCATGTGTGTTTCACATACGTGGGCATCTGTGCCACAAGGGTCATGTGGCACCACAGTTCATCAGCTGTGTTTCCCCTTCCTGCCCTGCTGCAGCGCCACAGGTTGGAGGAAAAGCCTGCCTGTGAGCAGGGTCCCGGCAGGGCCCACCCACCCAACAGTGGAGATCGGGCCTCAGAGCTGGGCAGTCATGGGAGTTCAGGGCCTGGCTCGCCTCGGCAGCCTGGTCTTAAAGAGGGACTTGCCCGAGGCCTCGATGTAAGTGACAGTCATCTCTTTGGAGCTGATCTCCACATAGGCAAAGCCACCCAGTGAGTCTTCAGTCCCATAGTGGAAGCGCAGATAGCCGTTGGGGACCTTGCGCTGGTGCCGCTTTGAGGGGTCCATGAAATTCCCAGCCCCACTCAGCACGTAGCCCACGCCATTCTCATCTTGCAGGTACTGAGGATGGAGGACAAGGGGTCAGTGGAGACCCAGCTTTGAGCAGAGCCCTGCCTAAGGTCCAGGGCTCGATCTGGCCCTAACCACAGAGTCACCTTGAGGTATGTAACCCCTCCTGGCTTCAATTTCCTGACTTTTAGGAGTGTATTAATCCTATTTCATAGGTAGAGCACTTAGTAAGAAATTGGTGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGGGGTGGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGCAACATAGTGAGACCTTGCCTCTACAAAAAAAATGCGCAAGGGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGAGGTCAGAAGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAATATAAAAATTAGCAAGGTTTGGTGGCCCATGCTTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGTTGAGATCGTGCCACTGCACTCCCTCTCAAAAAAAAAAAAAAAAGCAAAAATTAGCTGCATGTGGTGGCCCATGCCTGTAGTGTCAGCTACTCTGGAGGCTGAAGTGGGAGGTTCACCTGAGCCCGGGAGATTGAAGCTGCAGTAAGCCCCGATTGCACCACTGCACTCCAGCCTGGGTGAAAAACAATGAAACCTTGTCTCCAAAAAAAAAAAAAAAAAAGAGCTTAAAAAAGAAAGAAAGAAAGAAATTGGCAATTCGAAGATATTATTCTGGCTTTGGAGTGTTTTCCTGGTTAGACAGCAAGATTTGAGGGACAGTCTAGACATTCTGAAGGCCACAGGAGACCCTCAAACAGCAGGAGGACCCCAGCCATGTGGACATCAGCTGGGATGGGGACCCCCCTCACCCAGCTCCCACCCCACCCACAGGGCCCTCACCTGCAGATTGTGATTGTGGCCGCACAGGTAGGCAGTGACCCCGTATGTGGCCAGCAGTGGCCGTAGCTGCTTGACCAGGCAGTGGGTAGGCCCGTGCTCGGCTATGGACCACACGGGGTAGTGGCCAGCCACCAGCACGTAGTCCTCCCTGGCCGCCGCCAGCTGTTTCTTGAGCCAGGACAGCTGTGTGCGGGCCAGCTTCACGTCTCGGGGCCTCTCAGGCTGCTGGCTGAGGAAGTCATCTGAGTTGCCACATAGTGTCACTGTGTCCAGCATAAAAATGGCCACAGACACATTGGTCTGTGGGATCTTGAAGTGCAGGCGGTAGAAAGGGCTGGGGAAGTTCCTGTGGAGGGGATAGAGGTCGTGGGTGCACATCTTGGGCGCAGAAGTCCCAGGGTCAGCTCAAGCCACAGGGCCCCTGTGTCCCTGCTATGTGAGGATCTCGGAAGGCAGGGCTGAGGGTGGCTCACCAGCGCTTGGAGATCTTAGAGTATGCAATCTGGGCAGAGACATTGCCAAGGTGGTCATGGTTTCCGGCTAGCACGTACCAGGGCACTTTGCGAAGGGAGCGGTCAGAGAATACGTCCTCAAAGGTCTCCTGTAGCAAACAGATAGGGCAGGCCTCTTCCCTGGGGTCAGTGGCTATGCCGATCCTCCCACCAAGTCAGGATAAGGGAGACACTGAATGCTCCCGGCGCCCAAAGGTGCCCCATCACCTTCCCTCTGCCCTCACCAAAGGAAGGTCACTAGGTAAGGCGGCTTCTCCCCACTGCCCGCCCCCACCTCCTGCCCCACTCTGTTGGGCACAGACCTGGAACCTCTTGTCATTGATGTCTTGCACACCAGTGAAGTAAAAATTGTCCCCTAGAGACAGGATGAAGTCTGCACCCAGGATCTGCACAGTCCGAGCGATCTCCTTGGCATTGGCCATTTCCCGGGCCGTGTGGAATGGGGCATTGGGGACCCCTCCCCAGTCACCCACGGCTACAAAGCGCAGGGCAGGGGTGGCACCATCAGCCAGGGAGGGTAGCAACAAGGCTTGCAGGATGAGCAGCGCCGTCCACATGTCCATCTGGGAGAAGAGAGACAAGCATAGGTGGCCCGGGCTGTGACAAGGGCAGGGAGGCCTTGAGACCCCCGCCTGCCCTGAGATAGAGGGAGACTGCTTGCTGCAGGCTGCCCCTGCGGGAACCCCTTGGTGCCCTAATTCTCAGGACACACAAGCTGCACAAGGCTGCACAAGCTGGCTTAGGGAAGGGGGGCGCGGTCTGTGAGAGGGCGAGCTGTACCAAGATGGCCCTGCAGGCCCATTTCACCCTCCTTCCACCTAGCCTGCCCAGCACTCACCCAGGGGGAGACACAGGCCAGTCACCGGAGGCTCTGAGAGGCTGGTGGGCTCTAGAGTAGAACTGCCGGTCCCTGAGCCTTTATTCCCTGAGGAGGAAGTGGATCATTAGTGAGGATGATGCAGTTTCTCCGAGGGCTGTCCCGGGAGCCCTCCCCTTGGGTCATGTGAGCCCTGGACTTCCCTGGAGCAGGACACGGGATTGGGGTGGGGGTGGGAGGATCTGGGCACACGTGTGCAGCAGCCTCGGCCCACACAGCCTCCGGGTGGACCTGCAGGGGCCTGTTTGTGCTGTAGGCTTGACACGTCCAGGTATCTCTGTGTGTCTGTGTATCTCAGTGTGAGTGTGTGTGTGTGTGCACACTTGAGAGGCTGTGGCTGTGATTACCCAAGACACATCTCCTGCACCTTCTTTCTCTGAGTAAGGGCTTACCTGTGTGTGTCTGGGTGTGTCTTGCTTCCTGCGTGCAGCTGAGCATGCCTACCTGGGCCTCGGCTCTGTACCTGATGGTGTTGCTGCAGACATGTATGCTGAGCCTGCGAGGCCTGTGTGGCTTGTCTGCGATGCACGCCTGTGTTCTCACGTGGCACTGGGTGGGAATCCCTATGGATGGAGTTTTGTGTGTGTCCATGTGTGTGTGCCTGGGTTGCATCTCTAGGATGGGTTGCGTGTCTGGTGTGGGAGCTGTGTTTGACAACATCTGGGTGGGGGAC 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Task1_train_26550 | A sequence alteration has been identified in ACP5 (acid phosphatase 5, tartrate resistant) on Chromosome 19. Is it disease-inducing or harmless? | Pathogenic; Spondyloenchondrodysplasia with immune dysregulation | TTTTATTTTTTTTTTATTTTTTATTTTTTTGAGATGGAGTCTCGCTCTTTCACCCAGGCAGGAGTGCAGTGGCGCTATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGCCGCCACGCCTGGCTAATTTTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTAGTCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCGGGTTTTATAATCACATCCATGGATAAGGCAACTTGGTCATGGATGGGGTAAGAGATGGAGGCAAGGAACAGCAGCTCAGGGGAGCCCAGCCACTCTAACCAGGAGAACATAACACACCAGTGGCACTGGTTCAGCCTTGGCAACTATTCTTTTATTGAACATCAGTAACAGAAAGATGCTTGATTTAGGAGGAAGCTTTCCCTCCCTCCCTCCCCCATTGCACCCCGGAACTCAGCAAAGGTGAGCCAGCCACAGAGCATAACACTGTGGCTGGGACACATGTCCATGTGTGTTTCACATACGTGGGCATCTGTGCCACAAGGGTCATGTGGCACCACAGTTCATCAGCTGTGTTTCCCCTTCCTGCCCTGCTGCAGCGCCACAGGTTGGAGGAAAAGCCTGCCTGTGAGCAGGGTCCCGGCAGGGCCCACCCACCCAACAGTGGAGATCGGGCCTCAGAGCTGGGCAGTCATGGGAGTTCAGGGCCTGGCTCGCCTCGGCAGCCTGGTCTTAAAGAGGGACTTGCCCGAGGCCTCGATGTAAGTGACAGTCATCTCTTTGGAGCTGATCTCCACATAGGCAAAGCCACCCAGTGAGTCTTCAGTCCCATAGTGGAAGCGCAGATAGCCGTTGGGGACCTTGCGCTGGTGCCGCTTTGAGGGGTCCATGAAATTCCCAGCCCCACTCAGCACGTAGCCCACGCCATTCTCATCTTGCAGGTACTGAGGATGGAGGACAAGGGGTCAGTGGAGACCCAGCTTTGAGCAGAGCCCTGCCTAAGGTCCAGGGCTCGATCTGGCCCTAACCACAGAGTCACCTTGAGGTATGTAACCCCTCCTGGCTTCAATTTCCTGACTTTTAGGAGTGTATTAATCCTATTTCATAGGTAGAGCACTTAGTAAGAAATTGGTGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGGGGTGGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGCAACATAGTGAGACCTTGCCTCTACAAAAAAAATGCGCAAGGGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGAGGTCAGAAGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAATATAAAAATTAGCAAGGTTTGGTGGCCCATGCTTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGTTGAGATCGTGCCACTGCACTCCCTCTCAAAAAAAAAAAAAAAAGCAAAAATTAGCTGCATGTGGTGGCCCATGCCTGTAGTGTCAGCTACTCTGGAGGCTGAAGTGGGAGGTTCACCTGAGCCCGGGAGATTGAAGCTGCAGTAAGCCCCGATTGCACCACTGCACTCCAGCCTGGGTGAAAAACAATGAAACCTTGTCTCCAAAAAAAAAAAAAAAAAAGAGCTTAAAAAAGAAAGAAAGAAAGAAATTGGCAATTCGAAGATATTATTCTGGCTTTGGAGTGTTTTCCTGGTTAGACAGCAAGATTTGAGGGACAGTCTAGACATTCTGAAGGCCACAGGAGACCCTCAAACAGCAGGAGGACCCCAGCCATGTGGACATCAGCTGGGATGGGGACCCCCCTCACCCAGCTCCCACCCCACCCACAGGGCCCTCACCTGCAGATTGTGATCGTGGCCGCACAGGTAGGCAGTGACCCCGTATGTGGCCAGCAGTGGCCGTAGCTGCTTGACCAGGCAGTGGGTAGGCCCGTGCTCGGCTATGGACCACACGGGGTAGTGGCCAGCCACCAGCACGTAGTCCTCCCTGGCCGCCGCCAGCTGTTTCTTGAGCCAGGACAGCTGTGTGCGGGCCAGCTTCACGTCTCGGGGCCTCTCAGGCTGCTGGCTGAGGAAGTCATCTGAGTTGCCACATAGTGTCACTGTGTCCAGCATAAAAATGGCCACAGACACATTGGTCTGTGGGATCTTGAAGTGCAGGCGGTAGAAAGGGCTGGGGAAGTTCCTGTGGAGGGGATAGAGGTCGTGGGTGCACATCTTGGGCGCAGAAGTCCCAGGGTCAGCTCAAGCCACAGGGCCCCTGTGTCCCTGCTATGTGAGGATCTCGGAAGGCAGGGCTGAGGGTGGCTCACCAGCGCTTGGAGATCTTAGAGTATGCAATCTGGGCAGAGACATTGCCAAGGTGGTCATGGTTTCCGGCTAGCACGTACCAGGGCACTTTGCGAAGGGAGCGGTCAGAGAATACGTCCTCAAAGGTCTCCTGTAGCAAACAGATAGGGCAGGCCTCTTCCCTGGGGTCAGTGGCTATGCCGATCCTCCCACCAAGTCAGGATAAGGGAGACACTGAATGCTCCCGGCGCCCAAAGGTGCCCCATCACCTTCCCTCTGCCCTCACCAAAGGAAGGTCACTAGGTAAGGCGGCTTCTCCCCACTGCCCGCCCCCACCTCCTGCCCCACTCTGTTGGGCACAGACCTGGAACCTCTTGTCATTGATGTCTTGCACACCAGTGAAGTAAAAATTGTCCCCTAGAGACAGGATGAAGTCTGCACCCAGGATCTGCACAGTCCGAGCGATCTCCTTGGCATTGGCCATTTCCCGGGCCGTGTGGAATGGGGCATTGGGGACCCCTCCCCAGTCACCCACGGCTACAAAGCGCAGGGCAGGGGTGGCACCATCAGCCAGGGAGGGTAGCAACAAGGCTTGCAGGATGAGCAGCGCCGTCCACATGTCCATCTGGGAGAAGAGAGACAAGCATAGGTGGCCCGGGCTGTGACAAGGGCAGGGAGGCCTTGAGACCCCCGCCTGCCCTGAGATAGAGGGAGACTGCTTGCTGCAGGCTGCCCCTGCGGGAACCCCTTGGTGCCCTAATTCTCAGGACACACAAGCTGCACAAGGCTGCACAAGCTGGCTTAGGGAAGGGGGGCGCGGTCTGTGAGAGGGCGAGCTGTACCAAGATGGCCCTGCAGGCCCATTTCACCCTCCTTCCACCTAGCCTGCCCAGCACTCACCCAGGGGGAGACACAGGCCAGTCACCGGAGGCTCTGAGAGGCTGGTGGGCTCTAGAGTAGAACTGCCGGTCCCTGAGCCTTTATTCCCTGAGGAGGAAGTGGATCATTAGTGAGGATGATGCAGTTTCTCCGAGGGCTGTCCCGGGAGCCCTCCCCTTGGGTCATGTGAGCCCTGGACTTCCCTGGAGCAGGACACGGGATTGGGGTGGGGGTGGGAGGATCTGGGCACACGTGTGCAGCAGCCTCGGCCCACACAGCCTCCGGGTGGACCTGCAGGGGCCTGTTTGTGCTGTAGGCTTGACACGTCCAGGTATCTCTGTGTGTCTGTGTATCTCAGTGTGAGTGTGTGTGTGTGTGCACACTTGAGAGGCTGTGGCTGTGATTACCCAAGACACATCTCCTGCACCTTCTTTCTCTGAGTAAGGGCTTACCTGTGTGTGTCTGGGTGTGTCTTGCTTCCTGCGTGCAGCTGAGCATGCCTACCTGGGCCTCGGCTCTGTACCTGATGGTGTTGCTGCAGACATGTATGCTGAGCCTGCGAGGCCTGTGTGGCTTGTCTGCGATGCACGCCTGTGTTCTCACGTGGCACTGGGTGGGAATCCCTATGGATGGAGTTTTGTGTGTGTCCATGTGTGTGTGCCTGGGTTGCATCTCTAGGATGGGTTGCGTGTCTGGTGTGGGAGCTGTGTTTGACAACATCTGGGTGGGGGACTCCGCGTGT 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TTTTATTTTTTTTTTATTTTTTATTTTTTTGAGATGGAGTCTCGCTCTTTCACCCAGGCAGGAGTGCAGTGGCGCTATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGCCGCCACGCCTGGCTAATTTTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTAGTCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCGGGTTTTATAATCACATCCATGGATAAGGCAACTTGGTCATGGATGGGGTAAGAGATGGAGGCAAGGAACAGCAGCTCAGGGGAGCCCAGCCACTCTAACCAGGAGAACATAACACACCAGTGGCACTGGTTCAGCCTTGGCAACTATTCTTTTATTGAACATCAGTAACAGAAAGATGCTTGATTTAGGAGGAAGCTTTCCCTCCCTCCCTCCCCCATTGCACCCCGGAACTCAGCAAAGGTGAGCCAGCCACAGAGCATAACACTGTGGCTGGGACACATGTCCATGTGTGTTTCACATACGTGGGCATCTGTGCCACAAGGGTCATGTGGCACCACAGTTCATCAGCTGTGTTTCCCCTTCCTGCCCTGCTGCAGCGCCACAGGTTGGAGGAAAAGCCTGCCTGTGAGCAGGGTCCCGGCAGGGCCCACCCACCCAACAGTGGAGATCGGGCCTCAGAGCTGGGCAGTCATGGGAGTTCAGGGCCTGGCTCGCCTCGGCAGCCTGGTCTTAAAGAGGGACTTGCCCGAGGCCTCGATGTAAGTGACAGTCATCTCTTTGGAGCTGATCTCCACATAGGCAAAGCCACCCAGTGAGTCTTCAGTCCCATAGTGGAAGCGCAGATAGCCGTTGGGGACCTTGCGCTGGTGCCGCTTTGAGGGGTCCATGAAATTCCCAGCCCCACTCAGCACGTAGCCCACGCCATTCTCATCTTGCAGGTACTGAGGATGGAGGACAAGGGGTCAGTGGAGACCCAGCTTTGAGCAGAGCCCTGCCTAAGGTCCAGGGCTCGATCTGGCCCTAACCACAGAGTCACCTTGAGGTATGTAACCCCTCCTGGCTTCAATTTCCTGACTTTTAGGAGTGTATTAATCCTATTTCATAGGTAGAGCACTTAGTAAGAAATTGGTGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGGGGTGGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGCAACATAGTGAGACCTTGCCTCTACAAAAAAAATGCGCAAGGGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGAGGTCAGAAGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAATATAAAAATTAGCAAGGTTTGGTGGCCCATGCTTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGTTGAGATCGTGCCACTGCACTCCCTCTCAAAAAAAAAAAAAAAAGCAAAAATTAGCTGCATGTGGTGGCCCATGCCTGTAGTGTCAGCTACTCTGGAGGCTGAAGTGGGAGGTTCACCTGAGCCCGGGAGATTGAAGCTGCAGTAAGCCCCGATTGCACCACTGCACTCCAGCCTGGGTGAAAAACAATGAAACCTTGTCTCCAAAAAAAAAAAAAAAAAAGAGCTTAAAAAAGAAAGAAAGAAAGAAATTGGCAATTCGAAGATATTATTCTGGCTTTGGAGTGTTTTCCTGGTTAGACAGCAAGATTTGAGGGACAGTCTAGACATTCTGAAGGCCACAGGAGACCCTCAAACAGCAGGAGGACCCCAGCCATGTGGACATCAGCTGGGATGGGGACCCCCCTCACCCAGCTCCCACCCCACCCACAGGGCCCTCACCTGCAGATTGTGATCGTGGCCGCGCAGGTAGGCAGTGACCCCGTATGTGGCCAGCAGTGGCCGTAGCTGCTTGACCAGGCAGTGGGTAGGCCCGTGCTCGGCTATGGACCACACGGGGTAGTGGCCAGCCACCAGCACGTAGTCCTCCCTGGCCGCCGCCAGCTGTTTCTTGAGCCAGGACAGCTGTGTGCGGGCCAGCTTCACGTCTCGGGGCCTCTCAGGCTGCTGGCTGAGGAAGTCATCTGAGTTGCCACATAGTGTCACTGTGTCCAGCATAAAAATGGCCACAGACACATTGGTCTGTGGGATCTTGAAGTGCAGGCGGTAGAAAGGGCTGGGGAAGTTCCTGTGGAGGGGATAGAGGTCGTGGGTGCACATCTTGGGCGCAGAAGTCCCAGGGTCAGCTCAAGCCACAGGGCCCCTGTGTCCCTGCTATGTGAGGATCTCGGAAGGCAGGGCTGAGGGTGGCTCACCAGCGCTTGGAGATCTTAGAGTATGCAATCTGGGCAGAGACATTGCCAAGGTGGTCATGGTTTCCGGCTAGCACGTACCAGGGCACTTTGCGAAGGGAGCGGTCAGAGAATACGTCCTCAAAGGTCTCCTGTAGCAAACAGATAGGGCAGGCCTCTTCCCTGGGGTCAGTGGCTATGCCGATCCTCCCACCAAGTCAGGATAAGGGAGACACTGAATGCTCCCGGCGCCCAAAGGTGCCCCATCACCTTCCCTCTGCCCTCACCAAAGGAAGGTCACTAGGTAAGGCGGCTTCTCCCCACTGCCCGCCCCCACCTCCTGCCCCACTCTGTTGGGCACAGACCTGGAACCTCTTGTCATTGATGTCTTGCACACCAGTGAAGTAAAAATTGTCCCCTAGAGACAGGATGAAGTCTGCACCCAGGATCTGCACAGTCCGAGCGATCTCCTTGGCATTGGCCATTTCCCGGGCCGTGTGGAATGGGGCATTGGGGACCCCTCCCCAGTCACCCACGGCTACAAAGCGCAGGGCAGGGGTGGCACCATCAGCCAGGGAGGGTAGCAACAAGGCTTGCAGGATGAGCAGCGCCGTCCACATGTCCATCTGGGAGAAGAGAGACAAGCATAGGTGGCCCGGGCTGTGACAAGGGCAGGGAGGCCTTGAGACCCCCGCCTGCCCTGAGATAGAGGGAGACTGCTTGCTGCAGGCTGCCCCTGCGGGAACCCCTTGGTGCCCTAATTCTCAGGACACACAAGCTGCACAAGGCTGCACAAGCTGGCTTAGGGAAGGGGGGCGCGGTCTGTGAGAGGGCGAGCTGTACCAAGATGGCCCTGCAGGCCCATTTCACCCTCCTTCCACCTAGCCTGCCCAGCACTCACCCAGGGGGAGACACAGGCCAGTCACCGGAGGCTCTGAGAGGCTGGTGGGCTCTAGAGTAGAACTGCCGGTCCCTGAGCCTTTATTCCCTGAGGAGGAAGTGGATCATTAGTGAGGATGATGCAGTTTCTCCGAGGGCTGTCCCGGGAGCCCTCCCCTTGGGTCATGTGAGCCCTGGACTTCCCTGGAGCAGGACACGGGATTGGGGTGGGGGTGGGAGGATCTGGGCACACGTGTGCAGCAGCCTCGGCCCACACAGCCTCCGGGTGGACCTGCAGGGGCCTGTTTGTGCTGTAGGCTTGACACGTCCAGGTATCTCTGTGTGTCTGTGTATCTCAGTGTGAGTGTGTGTGTGTGTGCACACTTGAGAGGCTGTGGCTGTGATTACCCAAGACACATCTCCTGCACCTTCTTTCTCTGAGTAAGGGCTTACCTGTGTGTGTCTGGGTGTGTCTTGCTTCCTGCGTGCAGCTGAGCATGCCTACCTGGGCCTCGGCTCTGTACCTGATGGTGTTGCTGCAGACATGTATGCTGAGCCTGCGAGGCCTGTGTGGCTTGTCTGCGATGCACGCCTGTGTTCTCACGTGGCACTGGGTGGGAATCCCTATGGATGGAGTTTTGTGTGTGTCCATGTGTGTGTGCCTGGGTTGCATCTCTAGGATGGGTTGCGTGTCTGGTGTGGGAGCTGTGTTTGACAACATCTGGGTGGGGGACTCCGCGTGT 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Task1_train_26551 | Here is a variant affecting ACP5 (acid phosphatase 5, tartrate resistant) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Spondyloenchondrodysplasia with immune dysregulation | TGGCGCTATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGCCGCCACGCCTGGCTAATTTTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTAGTCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCGGGTTTTATAATCACATCCATGGATAAGGCAACTTGGTCATGGATGGGGTAAGAGATGGAGGCAAGGAACAGCAGCTCAGGGGAGCCCAGCCACTCTAACCAGGAGAACATAACACACCAGTGGCACTGGTTCAGCCTTGGCAACTATTCTTTTATTGAACATCAGTAACAGAAAGATGCTTGATTTAGGAGGAAGCTTTCCCTCCCTCCCTCCCCCATTGCACCCCGGAACTCAGCAAAGGTGAGCCAGCCACAGAGCATAACACTGTGGCTGGGACACATGTCCATGTGTGTTTCACATACGTGGGCATCTGTGCCACAAGGGTCATGTGGCACCACAGTTCATCAGCTGTGTTTCCCCTTCCTGCCCTGCTGCAGCGCCACAGGTTGGAGGAAAAGCCTGCCTGTGAGCAGGGTCCCGGCAGGGCCCACCCACCCAACAGTGGAGATCGGGCCTCAGAGCTGGGCAGTCATGGGAGTTCAGGGCCTGGCTCGCCTCGGCAGCCTGGTCTTAAAGAGGGACTTGCCCGAGGCCTCGATGTAAGTGACAGTCATCTCTTTGGAGCTGATCTCCACATAGGCAAAGCCACCCAGTGAGTCTTCAGTCCCATAGTGGAAGCGCAGATAGCCGTTGGGGACCTTGCGCTGGTGCCGCTTTGAGGGGTCCATGAAATTCCCAGCCCCACTCAGCACGTAGCCCACGCCATTCTCATCTTGCAGGTACTGAGGATGGAGGACAAGGGGTCAGTGGAGACCCAGCTTTGAGCAGAGCCCTGCCTAAGGTCCAGGGCTCGATCTGGCCCTAACCACAGAGTCACCTTGAGGTATGTAACCCCTCCTGGCTTCAATTTCCTGACTTTTAGGAGTGTATTAATCCTATTTCATAGGTAGAGCACTTAGTAAGAAATTGGTGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGGGGTGGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGCAACATAGTGAGACCTTGCCTCTACAAAAAAAATGCGCAAGGGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGAGGTCAGAAGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAATATAAAAATTAGCAAGGTTTGGTGGCCCATGCTTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGTTGAGATCGTGCCACTGCACTCCCTCTCAAAAAAAAAAAAAAAAGCAAAAATTAGCTGCATGTGGTGGCCCATGCCTGTAGTGTCAGCTACTCTGGAGGCTGAAGTGGGAGGTTCACCTGAGCCCGGGAGATTGAAGCTGCAGTAAGCCCCGATTGCACCACTGCACTCCAGCCTGGGTGAAAAACAATGAAACCTTGTCTCCAAAAAAAAAAAAAAAAAAGAGCTTAAAAAAGAAAGAAAGAAAGAAATTGGCAATTCGAAGATATTATTCTGGCTTTGGAGTGTTTTCCTGGTTAGACAGCAAGATTTGAGGGACAGTCTAGACATTCTGAAGGCCACAGGAGACCCTCAAACAGCAGGAGGACCCCAGCCATGTGGACATCAGCTGGGATGGGGACCCCCCTCACCCAGCTCCCACCCCACCCACAGGGCCCTCACCTGCAGATTGTGATCGTGGCCGCACAGGTAGGCAGTGACCCCGTATGTGGCCAGCAGTGGCCGTAGCTGCTTGACCAGGCAGTGGGTAGGCCCGTGCTCGGCTATGGACCACACGGGGTAGTGGCCAGCCACCAGCACGTAGTCCTCCCTGGCCGCCGCCAGCTGTTTCTTGAGCCAGGACAGCTGTGTGCGGGCCAGCTTCACGTCTCGGGGCCTCTCAGGCTGCTGGCTGAGGAAGTCATCTGAGTTGCCACATAGTGTCACTGTGTCCAGCATAAAAATGGCCACAGACACATTGGTCTGTGGGATCTTGAAGTGCAGGCGGTAGAAAGGGCTGGGGAAGTTCCTGTGGAGGGGATAGAGGTCGTGGGTGCACATCTTGGGCGCAGAAGTCCCAGGGTCAGCTCAAGCCACAGGGCCCCTGTGTCCCTGCTATGTGAGGATCTCGGAAGGCAGGGCTGAGGGTGGCTCACCAGCGCTTGGAGATCTTAGAGTATGCAATCTGGGCAGAGACATTGCCAAGGTGGTCATGGTTTCCGGCTAGCACGTACCAGGGCACTTTGCGAAGGGAGCGGTCAGAGAATACGTCCTCAAAGGTCTCCTGTAGCAAACAGATAGGGCAGGCCTCTTCCCTGGGGTCAGTGGCTATGCCGATCCTCCCACCAAGTCAGGATAAGGGAGACACTGAATGCTCCCGGCGCCCAAAGGTGCCCCATCACCTTCCCTCTGCCCTCACCAAAGGAAGGTCACTAGGTAAGGCGGCTTCTCCCCACTGCCCGCCCCCACCTCCTGCCCCACTCTGTTGGGCACAGACCTGGAACCTCTTGTCATTGATGTCTTGCACACCAGTGAAGTAAAAATTGTCCCCTAGAGACAGGATGAAGTCTGCACCCAGGATCTGCACAGTCCGAGCGATCTCCTTGGCATTGGCCATTTCCCGGGCCGTGTGGAATGGGGCATTGGGGACCCCTCCCCAGTCACCCACGGCTACAAAGCGCAGGGCAGGGGTGGCACCATCAGCCAGGGAGGGTAGCAACAAGGCTTGCAGGATGAGCAGCGCCGTCCACATGTCCATCTGGGAGAAGAGAGACAAGCATAGGTGGCCCGGGCTGTGACAAGGGCAGGGAGGCCTTGAGACCCCCGCCTGCCCTGAGATAGAGGGAGACTGCTTGCTGCAGGCTGCCCCTGCGGGAACCCCTTGGTGCCCTAATTCTCAGGACACACAAGCTGCACAAGGCTGCACAAGCTGGCTTAGGGAAGGGGGGCGCGGTCTGTGAGAGGGCGAGCTGTACCAAGATGGCCCTGCAGGCCCATTTCACCCTCCTTCCACCTAGCCTGCCCAGCACTCACCCAGGGGGAGACACAGGCCAGTCACCGGAGGCTCTGAGAGGCTGGTGGGCTCTAGAGTAGAACTGCCGGTCCCTGAGCCTTTATTCCCTGAGGAGGAAGTGGATCATTAGTGAGGATGATGCAGTTTCTCCGAGGGCTGTCCCGGGAGCCCTCCCCTTGGGTCATGTGAGCCCTGGACTTCCCTGGAGCAGGACACGGGATTGGGGTGGGGGTGGGAGGATCTGGGCACACGTGTGCAGCAGCCTCGGCCCACACAGCCTCCGGGTGGACCTGCAGGGGCCTGTTTGTGCTGTAGGCTTGACACGTCCAGGTATCTCTGTGTGTCTGTGTATCTCAGTGTGAGTGTGTGTGTGTGTGCACACTTGAGAGGCTGTGGCTGTGATTACCCAAGACACATCTCCTGCACCTTCTTTCTCTGAGTAAGGGCTTACCTGTGTGTGTCTGGGTGTGTCTTGCTTCCTGCGTGCAGCTGAGCATGCCTACCTGGGCCTCGGCTCTGTACCTGATGGTGTTGCTGCAGACATGTATGCTGAGCCTGCGAGGCCTGTGTGGCTTGTCTGCGATGCACGCCTGTGTTCTCACGTGGCACTGGGTGGGAATCCCTATGGATGGAGTTTTGTGTGTGTCCATGTGTGTGTGCCTGGGTTGCATCTCTAGGATGGGTTGCGTGTCTGGTGTGGGAGCTGTGTTTGACAACATCTGGGTGGGGGACTCCGCGTGTGTCCCCGTCCTCCCCCTGCCCTCTCTCCATCCCACACATAAACACCAACGGGCTTCCCTTTTCCAGGAA 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TGGCGCTATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGCCGCCACGCCTGGCTAATTTTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTAGTCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCGGGTTTTATAATCACATCCATGGATAAGGCAACTTGGTCATGGATGGGGTAAGAGATGGAGGCAAGGAACAGCAGCTCAGGGGAGCCCAGCCACTCTAACCAGGAGAACATAACACACCAGTGGCACTGGTTCAGCCTTGGCAACTATTCTTTTATTGAACATCAGTAACAGAAAGATGCTTGATTTAGGAGGAAGCTTTCCCTCCCTCCCTCCCCCATTGCACCCCGGAACTCAGCAAAGGTGAGCCAGCCACAGAGCATAACACTGTGGCTGGGACACATGTCCATGTGTGTTTCACATACGTGGGCATCTGTGCCACAAGGGTCATGTGGCACCACAGTTCATCAGCTGTGTTTCCCCTTCCTGCCCTGCTGCAGCGCCACAGGTTGGAGGAAAAGCCTGCCTGTGAGCAGGGTCCCGGCAGGGCCCACCCACCCAACAGTGGAGATCGGGCCTCAGAGCTGGGCAGTCATGGGAGTTCAGGGCCTGGCTCGCCTCGGCAGCCTGGTCTTAAAGAGGGACTTGCCCGAGGCCTCGATGTAAGTGACAGTCATCTCTTTGGAGCTGATCTCCACATAGGCAAAGCCACCCAGTGAGTCTTCAGTCCCATAGTGGAAGCGCAGATAGCCGTTGGGGACCTTGCGCTGGTGCCGCTTTGAGGGGTCCATGAAATTCCCAGCCCCACTCAGCACGTAGCCCACGCCATTCTCATCTTGCAGGTACTGAGGATGGAGGACAAGGGGTCAGTGGAGACCCAGCTTTGAGCAGAGCCCTGCCTAAGGTCCAGGGCTCGATCTGGCCCTAACCACAGAGTCACCTTGAGGTATGTAACCCCTCCTGGCTTCAATTTCCTGACTTTTAGGAGTGTATTAATCCTATTTCATAGGTAGAGCACTTAGTAAGAAATTGGTGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGGGGTGGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGCAACATAGTGAGACCTTGCCTCTACAAAAAAAATGCGCAAGGGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGAGGTCAGAAGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAATATAAAAATTAGCAAGGTTTGGTGGCCCATGCTTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGTTGAGATCGTGCCACTGCACTCCCTCTCAAAAAAAAAAAAAAAAGCAAAAATTAGCTGCATGTGGTGGCCCATGCCTGTAGTGTCAGCTACTCTGGAGGCTGAAGTGGGAGGTTCACCTGAGCCCGGGAGATTGAAGCTGCAGTAAGCCCCGATTGCACCACTGCACTCCAGCCTGGGTGAAAAACAATGAAACCTTGTCTCCAAAAAAAAAAAAAAAAAAGAGCTTAAAAAAGAAAGAAAGAAAGAAATTGGCAATTCGAAGATATTATTCTGGCTTTGGAGTGTTTTCCTGGTTAGACAGCAAGATTTGAGGGACAGTCTAGACATTCTGAAGGCCACAGGAGACCCTCAAACAGCAGGAGGACCCCAGCCATGTGGACATCAGCTGGGATGGGGACCCCCCTCACCCAGCTCCCACCCCACCCACAGGGCCCTCACCTGCAGATTGTGATCGTGGCCGCACAGGTAGGCAGTGACCCCGTATGTGGCCAGCAGTGGCCGTAGCTGCTTGACCAGGCAGTGGGTAGGCCGGTGCTCGGCTATGGACCACACGGGGTAGTGGCCAGCCACCAGCACGTAGTCCTCCCTGGCCGCCGCCAGCTGTTTCTTGAGCCAGGACAGCTGTGTGCGGGCCAGCTTCACGTCTCGGGGCCTCTCAGGCTGCTGGCTGAGGAAGTCATCTGAGTTGCCACATAGTGTCACTGTGTCCAGCATAAAAATGGCCACAGACACATTGGTCTGTGGGATCTTGAAGTGCAGGCGGTAGAAAGGGCTGGGGAAGTTCCTGTGGAGGGGATAGAGGTCGTGGGTGCACATCTTGGGCGCAGAAGTCCCAGGGTCAGCTCAAGCCACAGGGCCCCTGTGTCCCTGCTATGTGAGGATCTCGGAAGGCAGGGCTGAGGGTGGCTCACCAGCGCTTGGAGATCTTAGAGTATGCAATCTGGGCAGAGACATTGCCAAGGTGGTCATGGTTTCCGGCTAGCACGTACCAGGGCACTTTGCGAAGGGAGCGGTCAGAGAATACGTCCTCAAAGGTCTCCTGTAGCAAACAGATAGGGCAGGCCTCTTCCCTGGGGTCAGTGGCTATGCCGATCCTCCCACCAAGTCAGGATAAGGGAGACACTGAATGCTCCCGGCGCCCAAAGGTGCCCCATCACCTTCCCTCTGCCCTCACCAAAGGAAGGTCACTAGGTAAGGCGGCTTCTCCCCACTGCCCGCCCCCACCTCCTGCCCCACTCTGTTGGGCACAGACCTGGAACCTCTTGTCATTGATGTCTTGCACACCAGTGAAGTAAAAATTGTCCCCTAGAGACAGGATGAAGTCTGCACCCAGGATCTGCACAGTCCGAGCGATCTCCTTGGCATTGGCCATTTCCCGGGCCGTGTGGAATGGGGCATTGGGGACCCCTCCCCAGTCACCCACGGCTACAAAGCGCAGGGCAGGGGTGGCACCATCAGCCAGGGAGGGTAGCAACAAGGCTTGCAGGATGAGCAGCGCCGTCCACATGTCCATCTGGGAGAAGAGAGACAAGCATAGGTGGCCCGGGCTGTGACAAGGGCAGGGAGGCCTTGAGACCCCCGCCTGCCCTGAGATAGAGGGAGACTGCTTGCTGCAGGCTGCCCCTGCGGGAACCCCTTGGTGCCCTAATTCTCAGGACACACAAGCTGCACAAGGCTGCACAAGCTGGCTTAGGGAAGGGGGGCGCGGTCTGTGAGAGGGCGAGCTGTACCAAGATGGCCCTGCAGGCCCATTTCACCCTCCTTCCACCTAGCCTGCCCAGCACTCACCCAGGGGGAGACACAGGCCAGTCACCGGAGGCTCTGAGAGGCTGGTGGGCTCTAGAGTAGAACTGCCGGTCCCTGAGCCTTTATTCCCTGAGGAGGAAGTGGATCATTAGTGAGGATGATGCAGTTTCTCCGAGGGCTGTCCCGGGAGCCCTCCCCTTGGGTCATGTGAGCCCTGGACTTCCCTGGAGCAGGACACGGGATTGGGGTGGGGGTGGGAGGATCTGGGCACACGTGTGCAGCAGCCTCGGCCCACACAGCCTCCGGGTGGACCTGCAGGGGCCTGTTTGTGCTGTAGGCTTGACACGTCCAGGTATCTCTGTGTGTCTGTGTATCTCAGTGTGAGTGTGTGTGTGTGTGCACACTTGAGAGGCTGTGGCTGTGATTACCCAAGACACATCTCCTGCACCTTCTTTCTCTGAGTAAGGGCTTACCTGTGTGTGTCTGGGTGTGTCTTGCTTCCTGCGTGCAGCTGAGCATGCCTACCTGGGCCTCGGCTCTGTACCTGATGGTGTTGCTGCAGACATGTATGCTGAGCCTGCGAGGCCTGTGTGGCTTGTCTGCGATGCACGCCTGTGTTCTCACGTGGCACTGGGTGGGAATCCCTATGGATGGAGTTTTGTGTGTGTCCATGTGTGTGTGCCTGGGTTGCATCTCTAGGATGGGTTGCGTGTCTGGTGTGGGAGCTGTGTTTGACAACATCTGGGTGGGGGACTCCGCGTGTGTCCCCGTCCTCCCCCTGCCCTCTCTCCATCCCACACATAAACACCAACGGGCTTCCCTTTTCCAGGAA 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Task1_train_26552 | A genomic change on Chromosome 19 affects ACP5 (acid phosphatase 5, tartrate resistant). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Spondyloenchondrodysplasia with immune dysregulation | AACACTGTGGCTGGGACACATGTCCATGTGTGTTTCACATACGTGGGCATCTGTGCCACAAGGGTCATGTGGCACCACAGTTCATCAGCTGTGTTTCCCCTTCCTGCCCTGCTGCAGCGCCACAGGTTGGAGGAAAAGCCTGCCTGTGAGCAGGGTCCCGGCAGGGCCCACCCACCCAACAGTGGAGATCGGGCCTCAGAGCTGGGCAGTCATGGGAGTTCAGGGCCTGGCTCGCCTCGGCAGCCTGGTCTTAAAGAGGGACTTGCCCGAGGCCTCGATGTAAGTGACAGTCATCTCTTTGGAGCTGATCTCCACATAGGCAAAGCCACCCAGTGAGTCTTCAGTCCCATAGTGGAAGCGCAGATAGCCGTTGGGGACCTTGCGCTGGTGCCGCTTTGAGGGGTCCATGAAATTCCCAGCCCCACTCAGCACGTAGCCCACGCCATTCTCATCTTGCAGGTACTGAGGATGGAGGACAAGGGGTCAGTGGAGACCCAGCTTTGAGCAGAGCCCTGCCTAAGGTCCAGGGCTCGATCTGGCCCTAACCACAGAGTCACCTTGAGGTATGTAACCCCTCCTGGCTTCAATTTCCTGACTTTTAGGAGTGTATTAATCCTATTTCATAGGTAGAGCACTTAGTAAGAAATTGGTGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGGGGTGGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGCAACATAGTGAGACCTTGCCTCTACAAAAAAAATGCGCAAGGGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGAGGTCAGAAGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAATATAAAAATTAGCAAGGTTTGGTGGCCCATGCTTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGTTGAGATCGTGCCACTGCACTCCCTCTCAAAAAAAAAAAAAAAAGCAAAAATTAGCTGCATGTGGTGGCCCATGCCTGTAGTGTCAGCTACTCTGGAGGCTGAAGTGGGAGGTTCACCTGAGCCCGGGAGATTGAAGCTGCAGTAAGCCCCGATTGCACCACTGCACTCCAGCCTGGGTGAAAAACAATGAAACCTTGTCTCCAAAAAAAAAAAAAAAAAAGAGCTTAAAAAAGAAAGAAAGAAAGAAATTGGCAATTCGAAGATATTATTCTGGCTTTGGAGTGTTTTCCTGGTTAGACAGCAAGATTTGAGGGACAGTCTAGACATTCTGAAGGCCACAGGAGACCCTCAAACAGCAGGAGGACCCCAGCCATGTGGACATCAGCTGGGATGGGGACCCCCCTCACCCAGCTCCCACCCCACCCACAGGGCCCTCACCTGCAGATTGTGATCGTGGCCGCACAGGTAGGCAGTGACCCCGTATGTGGCCAGCAGTGGCCGTAGCTGCTTGACCAGGCAGTGGGTAGGCCCGTGCTCGGCTATGGACCACACGGGGTAGTGGCCAGCCACCAGCACGTAGTCCTCCCTGGCCGCCGCCAGCTGTTTCTTGAGCCAGGACAGCTGTGTGCGGGCCAGCTTCACGTCTCGGGGCCTCTCAGGCTGCTGGCTGAGGAAGTCATCTGAGTTGCCACATAGTGTCACTGTGTCCAGCATAAAAATGGCCACAGACACATTGGTCTGTGGGATCTTGAAGTGCAGGCGGTAGAAAGGGCTGGGGAAGTTCCTGTGGAGGGGATAGAGGTCGTGGGTGCACATCTTGGGCGCAGAAGTCCCAGGGTCAGCTCAAGCCACAGGGCCCCTGTGTCCCTGCTATGTGAGGATCTCGGAAGGCAGGGCTGAGGGTGGCTCACCAGCGCTTGGAGATCTTAGAGTATGCAATCTGGGCAGAGACATTGCCAAGGTGGTCATGGTTTCCGGCTAGCACGTACCAGGGCACTTTGCGAAGGGAGCGGTCAGAGAATACGTCCTCAAAGGTCTCCTGTAGCAAACAGATAGGGCAGGCCTCTTCCCTGGGGTCAGTGGCTATGCCGATCCTCCCACCAAGTCAGGATAAGGGAGACACTGAATGCTCCCGGCGCCCAAAGGTGCCCCATCACCTTCCCTCTGCCCTCACCAAAGGAAGGTCACTAGGTAAGGCGGCTTCTCCCCACTGCCCGCCCCCACCTCCTGCCCCACTCTGTTGGGCACAGACCTGGAACCTCTTGTCATTGATGTCTTGCACACCAGTGAAGTAAAAATTGTCCCCTAGAGACAGGATGAAGTCTGCACCCAGGATCTGCACAGTCCGAGCGATCTCCTTGGCATTGGCCATTTCCCGGGCCGTGTGGAATGGGGCATTGGGGACCCCTCCCCAGTCACCCACGGCTACAAAGCGCAGGGCAGGGGTGGCACCATCAGCCAGGGAGGGTAGCAACAAGGCTTGCAGGATGAGCAGCGCCGTCCACATGTCCATCTGGGAGAAGAGAGACAAGCATAGGTGGCCCGGGCTGTGACAAGGGCAGGGAGGCCTTGAGACCCCCGCCTGCCCTGAGATAGAGGGAGACTGCTTGCTGCAGGCTGCCCCTGCGGGAACCCCTTGGTGCCCTAATTCTCAGGACACACAAGCTGCACAAGGCTGCACAAGCTGGCTTAGGGAAGGGGGGCGCGGTCTGTGAGAGGGCGAGCTGTACCAAGATGGCCCTGCAGGCCCATTTCACCCTCCTTCCACCTAGCCTGCCCAGCACTCACCCAGGGGGAGACACAGGCCAGTCACCGGAGGCTCTGAGAGGCTGGTGGGCTCTAGAGTAGAACTGCCGGTCCCTGAGCCTTTATTCCCTGAGGAGGAAGTGGATCATTAGTGAGGATGATGCAGTTTCTCCGAGGGCTGTCCCGGGAGCCCTCCCCTTGGGTCATGTGAGCCCTGGACTTCCCTGGAGCAGGACACGGGATTGGGGTGGGGGTGGGAGGATCTGGGCACACGTGTGCAGCAGCCTCGGCCCACACAGCCTCCGGGTGGACCTGCAGGGGCCTGTTTGTGCTGTAGGCTTGACACGTCCAGGTATCTCTGTGTGTCTGTGTATCTCAGTGTGAGTGTGTGTGTGTGTGCACACTTGAGAGGCTGTGGCTGTGATTACCCAAGACACATCTCCTGCACCTTCTTTCTCTGAGTAAGGGCTTACCTGTGTGTGTCTGGGTGTGTCTTGCTTCCTGCGTGCAGCTGAGCATGCCTACCTGGGCCTCGGCTCTGTACCTGATGGTGTTGCTGCAGACATGTATGCTGAGCCTGCGAGGCCTGTGTGGCTTGTCTGCGATGCACGCCTGTGTTCTCACGTGGCACTGGGTGGGAATCCCTATGGATGGAGTTTTGTGTGTGTCCATGTGTGTGTGCCTGGGTTGCATCTCTAGGATGGGTTGCGTGTCTGGTGTGGGAGCTGTGTTTGACAACATCTGGGTGGGGGACTCCGCGTGTGTCCCCGTCCTCCCCCTGCCCTCTCTCCATCCCACACATAAACACCAACGGGCTTCCCTTTTCCAGGAAGTCCTGCCCACACCCTCCCCTCCCCCCAGACTCCCATTCCTGCAGGAGGAACCAGGCAGGAGGCAGCTAGCTGGTGATAGCGCGCGTGACCACAGACCTCTGACCCTCATAGTCTCAGCAGCTGTCTGCAGGCCCTCCACGGGACCGCAGCCTGGGAGGGCAGGAGGCCCTGCACCTGCGGCCGGTCTGACCTGCTCCTCACCTCCCTGCCTGCCTCCTCCGTGCTGGGCGCCGCCGCGACACGTCCCGCGGACATTCAGGAGTCCCTTCAGTCCCTGCGAGCGCGGACCCGGGAGAGAGCTCTCATTCAACGCTGAGGCCACTGGCTCACAGATCTCCCCGGGTCACCCTGCGAAGTGCTTGGTCCCCCCCATTCCCAGCCCTGCAGCAGCAACAAACGGGAAGGAAGTGGGTGACGAGGACAGGCAGAGACCCCTCCCACGGGGCCGCCCGCATCTCACCTGCCGTCGCGGGGCGGGCGTTGCGGCCGGTGCCCAGCTGCAG | AACACTGTGGCTGGGACACATGTCCATGTGTGTTTCACATACGTGGGCATCTGTGCCACAAGGGTCATGTGGCACCACAGTTCATCAGCTGTGTTTCCCCTTCCTGCCCTGCTGCAGCGCCACAGGTTGGAGGAAAAGCCTGCCTGTGAGCAGGGTCCCGGCAGGGCCCACCCACCCAACAGTGGAGATCGGGCCTCAGAGCTGGGCAGTCATGGGAGTTCAGGGCCTGGCTCGCCTCGGCAGCCTGGTCTTAAAGAGGGACTTGCCCGAGGCCTCGATGTAAGTGACAGTCATCTCTTTGGAGCTGATCTCCACATAGGCAAAGCCACCCAGTGAGTCTTCAGTCCCATAGTGGAAGCGCAGATAGCCGTTGGGGACCTTGCGCTGGTGCCGCTTTGAGGGGTCCATGAAATTCCCAGCCCCACTCAGCACGTAGCCCACGCCATTCTCATCTTGCAGGTACTGAGGATGGAGGACAAGGGGTCAGTGGAGACCCAGCTTTGAGCAGAGCCCTGCCTAAGGTCCAGGGCTCGATCTGGCCCTAACCACAGAGTCACCTTGAGGTATGTAACCCCTCCTGGCTTCAATTTCCTGACTTTTAGGAGTGTATTAATCCTATTTCATAGGTAGAGCACTTAGTAAGAAATTGGTGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGGGGTGGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGCAACATAGTGAGACCTTGCCTCTACAAAAAAAATGCGCAAGGGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGAGGTCAGAAGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAATATAAAAATTAGCAAGGTTTGGTGGCCCATGCTTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGTTGAGATCGTGCCACTGCACTCCCTCTCAAAAAAAAAAAAAAAAGCAAAAATTAGCTGCATGTGGTGGCCCATGCCTGTAGTGTCAGCTACTCTGGAGGCTGAAGTGGGAGGTTCACCTGAGCCCGGGAGATTGAAGCTGCAGTAAGCCCCGATTGCACCACTGCACTCCAGCCTGGGTGAAAAACAATGAAACCTTGTCTCCAAAAAAAAAAAAAAAAAAGAGCTTAAAAAAGAAAGAAAGAAAGAAATTGGCAATTCGAAGATATTATTCTGGCTTTGGAGTGTTTTCCTGGTTAGACAGCAAGATTTGAGGGACAGTCTAGACATTCTGAAGGCCACAGGAGACCCTCAAACAGCAGGAGGACCCCAGCCATGTGGACATCAGCTGGGATGGGGACCCCCCTCACCCAGCTCCCACCCCACCCACAGGGCCCTCACCTGCAGATTGTGATCGTGGCCGCACAGGTAGGCAGTGACCCCGTATGTGGCCAGCAGTGGCCGTAGCTGCTTGACCAGGCAGTGGGTAGGCCCGTGCTCGGCTATGGACCACACGGGGTAGTGGCCAGCCACCAGCACGTAGTCCTCCCTGGCCGCCGCCAGCTGTTTCTTGAGCCAGGACAGCTGTGTGCGGGCCAGCTTCACGTCTCGGGGCCTCTCAGGCTGCTGGCTGAGGAAGTCATCTGAGTTGCCACATAGTGTCACTGTGTCCAGCATAAAAATGGCCACAGACACATTGGTCTGTGGGATCTTGAAGTGCAGGCGGTAGAAAGGGCTGGGGAAGTTCCTGTGGAGGGGATAGAGGTCGTGGGTGCACATCTTGGGCGCAGAAGTCCCAGGGTCAGCTCAAGCCACAGGGCCCCTGTGTCCCTGCTATGTGAGGATCTCGGAAGGCAGGGCTGAGGGTGGCTCACCAGCGCTTGGAGATCTTAGAGTATGCAATCTGGGCAGAGACATTGCCAAGGTGGTCATGGTTTCCGGCTAGCACGTACCAGGGCACTTTGCGAAGGGAGCGGTCAGAGAATACGTCCTCAAAGATCTCCTGTAGCAAACAGATAGGGCAGGCCTCTTCCCTGGGGTCAGTGGCTATGCCGATCCTCCCACCAAGTCAGGATAAGGGAGACACTGAATGCTCCCGGCGCCCAAAGGTGCCCCATCACCTTCCCTCTGCCCTCACCAAAGGAAGGTCACTAGGTAAGGCGGCTTCTCCCCACTGCCCGCCCCCACCTCCTGCCCCACTCTGTTGGGCACAGACCTGGAACCTCTTGTCATTGATGTCTTGCACACCAGTGAAGTAAAAATTGTCCCCTAGAGACAGGATGAAGTCTGCACCCAGGATCTGCACAGTCCGAGCGATCTCCTTGGCATTGGCCATTTCCCGGGCCGTGTGGAATGGGGCATTGGGGACCCCTCCCCAGTCACCCACGGCTACAAAGCGCAGGGCAGGGGTGGCACCATCAGCCAGGGAGGGTAGCAACAAGGCTTGCAGGATGAGCAGCGCCGTCCACATGTCCATCTGGGAGAAGAGAGACAAGCATAGGTGGCCCGGGCTGTGACAAGGGCAGGGAGGCCTTGAGACCCCCGCCTGCCCTGAGATAGAGGGAGACTGCTTGCTGCAGGCTGCCCCTGCGGGAACCCCTTGGTGCCCTAATTCTCAGGACACACAAGCTGCACAAGGCTGCACAAGCTGGCTTAGGGAAGGGGGGCGCGGTCTGTGAGAGGGCGAGCTGTACCAAGATGGCCCTGCAGGCCCATTTCACCCTCCTTCCACCTAGCCTGCCCAGCACTCACCCAGGGGGAGACACAGGCCAGTCACCGGAGGCTCTGAGAGGCTGGTGGGCTCTAGAGTAGAACTGCCGGTCCCTGAGCCTTTATTCCCTGAGGAGGAAGTGGATCATTAGTGAGGATGATGCAGTTTCTCCGAGGGCTGTCCCGGGAGCCCTCCCCTTGGGTCATGTGAGCCCTGGACTTCCCTGGAGCAGGACACGGGATTGGGGTGGGGGTGGGAGGATCTGGGCACACGTGTGCAGCAGCCTCGGCCCACACAGCCTCCGGGTGGACCTGCAGGGGCCTGTTTGTGCTGTAGGCTTGACACGTCCAGGTATCTCTGTGTGTCTGTGTATCTCAGTGTGAGTGTGTGTGTGTGTGCACACTTGAGAGGCTGTGGCTGTGATTACCCAAGACACATCTCCTGCACCTTCTTTCTCTGAGTAAGGGCTTACCTGTGTGTGTCTGGGTGTGTCTTGCTTCCTGCGTGCAGCTGAGCATGCCTACCTGGGCCTCGGCTCTGTACCTGATGGTGTTGCTGCAGACATGTATGCTGAGCCTGCGAGGCCTGTGTGGCTTGTCTGCGATGCACGCCTGTGTTCTCACGTGGCACTGGGTGGGAATCCCTATGGATGGAGTTTTGTGTGTGTCCATGTGTGTGTGCCTGGGTTGCATCTCTAGGATGGGTTGCGTGTCTGGTGTGGGAGCTGTGTTTGACAACATCTGGGTGGGGGACTCCGCGTGTGTCCCCGTCCTCCCCCTGCCCTCTCTCCATCCCACACATAAACACCAACGGGCTTCCCTTTTCCAGGAAGTCCTGCCCACACCCTCCCCTCCCCCCAGACTCCCATTCCTGCAGGAGGAACCAGGCAGGAGGCAGCTAGCTGGTGATAGCGCGCGTGACCACAGACCTCTGACCCTCATAGTCTCAGCAGCTGTCTGCAGGCCCTCCACGGGACCGCAGCCTGGGAGGGCAGGAGGCCCTGCACCTGCGGCCGGTCTGACCTGCTCCTCACCTCCCTGCCTGCCTCCTCCGTGCTGGGCGCCGCCGCGACACGTCCCGCGGACATTCAGGAGTCCCTTCAGTCCCTGCGAGCGCGGACCCGGGAGAGAGCTCTCATTCAACGCTGAGGCCACTGGCTCACAGATCTCCCCGGGTCACCCTGCGAAGTGCTTGGTCCCCCCCATTCCCAGCCCTGCAGCAGCAACAAACGGGAAGGAAGTGGGTGACGAGGACAGGCAGAGACCCCTCCCACGGGGCCGCCCGCATCTCACCTGCCGTCGCGGGGCGGGCGTTGCGGCCGGTGCCCAGCTGCAG |
Task1_train_26553 | A change on Chromosome 19 affects gene MAN2B1 (mannosidase alpha class 2B member 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Deficiency of alpha-mannosidase | CAGGACAGAGCCTGGGGGCGGTGAGAGGGCGGGGCTAAAGTGAAATGGGCGGGGCCGGAGGTGAGTTGGTGGTTTAGGGGCATGAGCTAGGGCTGTGCCTCTACACAGTCCAGGGGGGTTGGGACTGGGCTGGCACTGGGCGGGGACTGCCCAGGGGATGGGGTTGGCCCGAGGGTTTGGGGCTAATTATGGCCAAATGGATCCCCGCTGAGCCTAGGAAACTCCGCACCCAAACCCGGCTCCCTGGTAGACTTCAATCCGGTCCTCTCTGCCTACCCCGCTGCCCCTCACCTGCGTGCGCGGAGGAGCCCCGAGATTGTAGGCGGCGCCGCCACCCGGGGCCAGCACCACCTGAGGGGCCAGGACCTCCTGCTCCGCCAGGAGCCGGTGTCCGGCGGCTGCAGCCTGGGCTGTGTCCAGCAGCACCAGGTGGCGCCCTCGCACCCACGCCCCCGACCCGTTCTCCATTAGTGGCTCCGATACTCCGCGTCCATCGTCCTTCAGCAGCCTTCGGTGCACCTGGGGGGAGAGTGGCCAGGAGGGGGTGAGAGTCGTGGGTTTGTGGGTGTCCTTGGGCCAGAAACTGGGTAAGGGCGTGTGGGAATGTCAAAAGAAATTAAAGGGTGGGAGGAACGGATGAGGATGAAGGTGAGGGTCTGGTAGGGCAACCCCAGCAGAGGCAGGATCCAAGTAGGCATGGGAACCAGGCCGGAAGGAGGTAAATGCCTAACAGGGGGGCCTGGATATGGCACGCCAGAGCGTGGAGGGAGCCTGGGCAGGAGATGGAGAAAAACGGAGAGGAAAAGCCACACACAGAAATGGAGTCCTTGGCCGGGAGCGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGAGTGGATCACCTGAGGTAAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACCAAAATTAGCCGGGCGTGATGGTGTGTGCCTGTAAGCCCAGCTACTCGGAAGGCTGAGGCAGGACAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATAGTACTATTGCACTCCAGCTTGGACAACAAGAGCAAAACTCCGTCTCAAAGAGAAGAAAAGAAAGAAACGGAGTCCTCAGCTTAGTGGGGCCTGAAAGCAGAGAACTGGGCCAGAAACAGCCTTCAAGGTCCAGCAGGGGTCCAGGTTGGGAGGACCCTGGCTCGGATGGGGCTCTGACCCACTCACCATGAGCTCCAGCGAGCCATCTCTCAGGCTGCTGCCCCCCTGGGAGCGGTCAGTCAGCACAGTCAGCTGCATGTTTCCATCCTGGGAGTTGAAGGGTGAAAGTAGAGGGCAGTCAACCCCAACCCCAGGCAGCTTTGAGATGCTGCAGATAAGGGGTGATTCCCTTTCTATCGAGGTGGGGAGGTGCAGGATGGGGGAGAGCTACCGTGATGTAAATCCGGGTGTTGACTGGATAGTAGTTTCCTGCCACGGGCTCCGTCTGGTTCAGTTTCCAGGTGGGTCGATAATCCCGCCTGGGGTTGGGGGTGAGCTGATCAGGCTTGGGATCTGGCTCCCCAACTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGCTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTGGCTCCCCCGCCCTTCACTCTCCCTTCGTCCTCTGTCTCCCACACTCATGTAATCAGCAAATTTCCCTCACCACCCCTGGGCCCCAACACACCACAGACCACCCCCTCAGTGCTCTCAGTCACCCCCCACCTCCTCTCCAGGATCTCCCGGCCATTGCTGTCTGTGTAGAAGCGTCCCTTTGTCTCCAGCGGTGTGTCAAAACGGCTGATGACCTCCTTCCCCCAGGTGTCGCTGTACCCAATGGGATGGCAAGGTTGTGAGCCTTGGATAAACCCCTCTGCCCTTGCTTCCACACCCCTCTCCCAGCCTGTGCCACTCACCCCACAGGTATCGGCCCCACCGACCACTCTAGCTCCAGGTGCCGCTGTCCTGGGTACAGGCGAACCACCTGGGAACACCAAGCTGAGAAGTTCTGGTGCACCTCCTGCACCAAGGGTGTCTGCGGGCACACGGGTGAGGTGGATGTCAGTCTGTACCTGAGCAGAGGTGAGTCCTACAAATGTCCCCCAACCCTGGCCATAAACCCCATTAAGGCCTACATCAAGGTCAACCTTCAGTCACCGCCACATAATTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTTTGCCCAGGCGGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCAAGGATGGTCTCGATCTCCTGACCTCGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCCACATAATTCTTTTTTCTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTTGCCCAGGATGGAGTGCAGTGGCACAATCTTGCCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGAGGGATTGCAGGTACCTGCCACCACCCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTATCCATGTTGGCCAGACTTGTCTTGAACTCCTGACCTCAGATGATCTGCCTGCCTCTGCCTCGCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCCTCTTTTTTTTTTTTTTTTTTTGAGACAGGGCATCACTATGTAGGCACCTAATCAGCAAATGCTCCCACCTGGTCTTGAACTCCTATGCTCAGCGATCCTCCTGCTTCAGTCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACTGCATCTGGCTTACCACATCACTCTTGAGCGTGGCATAAACGCCTCCTGTTCACCATTGCCCCATAGAATAGGATTCTAGCTTGGCACATGGCTACCTGGGATAAAGACTATATTGTCCAGTCTTCCCTGAGGCTATCAGTAGCTGAGTGACCAGTTTGCCCCATAGAAAGTGATCCAAGTGGTGTCAACAATGTTCCTTGCCCCTGTCCCTCTGCTACTGACTCAAACACAAATGTGGCGGCTGGAGCTTCAGCAGCTATCTTGGACCATGAGGTGGAAACTGAATATTGGGGAAGGCAGAGCAACAAGATAGAAGAGGAGGTCCTGGGTGATTATGGAACCACCCCACTTTCTCTGGACTAACAGCCAGACTTTTTGTTAGAAGAAAATAATCTTCTATCTTATTCTAGTCACAGTTAATTTGGGTAACTCTGTTAGAACAGGCAAAACTATATACAGATATGCAGACATTCATCTCAAAGGGACTCACATGAAACGCGAGGCTCTTGAATGTGGACAAATGTGAGTTTTGTCATCTATGAAAGTCAAACATCAATGAGAGGCCCTGGGAAACCACTGTTCCTAGCCAGATGCACCCATAGGCATTCACCCTGAGACTCACCCAAACCCAATCAATCCAAGGGTGGACTCTCAAATATTCACTCCAGATAGAAGCTCCTCTTACTACAGACTTTGGTGAATTCTTCAAGCAGTGATATTTGGCTCTCCTGATTCATGGGCCAAGTGGGAATGCCCCACCCCCAATTTCCAAAACTAAGTATGTAAACGTCCACAGCAGATGTGAATGGCTTTGTATGATGTGTCCTATGGGGAGACTCTCATACGACCAGCTATGAATATCA | CAGGACAGAGCCTGGGGGCGGTGAGAGGGCGGGGCTAAAGTGAAATGGGCGGGGCCGGAGGTGAGTTGGTGGTTTAGGGGCATGAGCTAGGGCTGTGCCTCTACACAGTCCAGGGGGGTTGGGACTGGGCTGGCACTGGGCGGGGACTGCCCAGGGGATGGGGTTGGCCCGAGGGTTTGGGGCTAATTATGGCCAAATGGATCCCCGCTGAGCCTAGGAAACTCCGCACCCAAACCCGGCTCCCTGGTAGACTTCAATCCGGTCCTCTCTGCCTACCCCGCTGCCCCTCACCTGCGTGCGCGGAGGAGCCCCGAGATTGTAGGCGGCGCCGCCACCCGGGGCCAGCACCACCTGAGGGGCCAGGACCTCCTGCTCCGCCAGGAGCCGGTGTCCGGCGGCTGCAGCCTGGGCTGTGTCCAGCAGCACCAGGTGGCGCCCTCGCACCCACGCCCCCGACCCGTTCTCCATTAGTGGCTCCGATACTCCGCGTCCATCGTCCTTCAGCAGCCTTCGGTGCACCTGGGGGGAGAGTGGCCAGGAGGGGGTGAGAGTCGTGGGTTTGTGGGTGTCCTTGGGCCAGAAACTGGGTAAGGGCGTGTGGGAATGTCAAAAGAAATTAAAGGGTGGGAGGAACGGATGAGGATGAAGGTGAGGGTCTGGTAGGGCAACCCCAGCAGAGGCAGGATCCAAGTAGGCATGGGAACCAGGCCGGAAGGAGGTAAATGCCTAACAGGGGGGCCTGGATATGGCACGCCAGAGCGTGGAGGGAGCCTGGGCAGGAGATGGAGAAAAACGGAGAGGAAAAGCCACACACAGAAATGGAGTCCTTGGCCGGGAGCGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGAGTGGATCACCTGAGGTAAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACCAAAATTAGCCGGGCGTGATGGTGTGTGCCTGTAAGCCCAGCTACTCGGAAGGCTGAGGCAGGACAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATAGTACTATTGCACTCCAGCTTGGACAACAAGAGCAAAACTCCGTCTCAAAGAGAAGAAAAGAAAGAAACGGAGTCCTCAGCTTAGTGGGGCCTGAAAGCAGAGAACTGGGCCAGAAACAGCCTTCAAGGTCCAGCAGGGGTCCAGGTTGGGAGGACCCTGGCTCGGATGGGGCTCTGACCCACTCACCATGAGCTCCAGCGAGCCATCTCTCAGGCTGCTGCCCCCCTGGGAGCGGTCAGTCAGCACAGTCAGCTGCATGTTTCCATCCTGGGAGTTGAAGGGTGAAAGTAGAGGGCAGTCAACCCCAACCCCAGGCAGCTTTGAGATGCTGCAGATAAGGGGTGATTCCCTTTCTATCGAGGTGGGGAGGTGCAGGATGGGGGAGAGCTACCGTGATGTAAATCCGGGTGTTGACTGGATAGTAGTTTCCTGCCACGGGCTCCGTCTGGTTCAGTTTCCAGGTGGGTCGATAATCCCGCCTGGGGTTGGGGGTGAGCTGATCAGGCTTGGGATCTGGCTCCCCAACTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGCTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTGGCTCCCCCGCCCTTCACTCTCCCTTCGTCCTCTGTCTCCCACACTCATGTAATCAGCAAATTTCCCTCACCACCCCTGGGCCCCAACACACCACAGACCACCCCCTCAGTGCTCTCAGTCACCCCCCACCTCCTCTCCAGGATCTCCCAGCCATTGCTGTCTGTGTAGAAGCGTCCCTTTGTCTCCAGCGGTGTGTCAAAACGGCTGATGACCTCCTTCCCCCAGGTGTCGCTGTACCCAATGGGATGGCAAGGTTGTGAGCCTTGGATAAACCCCTCTGCCCTTGCTTCCACACCCCTCTCCCAGCCTGTGCCACTCACCCCACAGGTATCGGCCCCACCGACCACTCTAGCTCCAGGTGCCGCTGTCCTGGGTACAGGCGAACCACCTGGGAACACCAAGCTGAGAAGTTCTGGTGCACCTCCTGCACCAAGGGTGTCTGCGGGCACACGGGTGAGGTGGATGTCAGTCTGTACCTGAGCAGAGGTGAGTCCTACAAATGTCCCCCAACCCTGGCCATAAACCCCATTAAGGCCTACATCAAGGTCAACCTTCAGTCACCGCCACATAATTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTTTGCCCAGGCGGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCAAGGATGGTCTCGATCTCCTGACCTCGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCCACATAATTCTTTTTTCTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTTGCCCAGGATGGAGTGCAGTGGCACAATCTTGCCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGAGGGATTGCAGGTACCTGCCACCACCCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTATCCATGTTGGCCAGACTTGTCTTGAACTCCTGACCTCAGATGATCTGCCTGCCTCTGCCTCGCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCCTCTTTTTTTTTTTTTTTTTTTGAGACAGGGCATCACTATGTAGGCACCTAATCAGCAAATGCTCCCACCTGGTCTTGAACTCCTATGCTCAGCGATCCTCCTGCTTCAGTCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACTGCATCTGGCTTACCACATCACTCTTGAGCGTGGCATAAACGCCTCCTGTTCACCATTGCCCCATAGAATAGGATTCTAGCTTGGCACATGGCTACCTGGGATAAAGACTATATTGTCCAGTCTTCCCTGAGGCTATCAGTAGCTGAGTGACCAGTTTGCCCCATAGAAAGTGATCCAAGTGGTGTCAACAATGTTCCTTGCCCCTGTCCCTCTGCTACTGACTCAAACACAAATGTGGCGGCTGGAGCTTCAGCAGCTATCTTGGACCATGAGGTGGAAACTGAATATTGGGGAAGGCAGAGCAACAAGATAGAAGAGGAGGTCCTGGGTGATTATGGAACCACCCCACTTTCTCTGGACTAACAGCCAGACTTTTTGTTAGAAGAAAATAATCTTCTATCTTATTCTAGTCACAGTTAATTTGGGTAACTCTGTTAGAACAGGCAAAACTATATACAGATATGCAGACATTCATCTCAAAGGGACTCACATGAAACGCGAGGCTCTTGAATGTGGACAAATGTGAGTTTTGTCATCTATGAAAGTCAAACATCAATGAGAGGCCCTGGGAAACCACTGTTCCTAGCCAGATGCACCCATAGGCATTCACCCTGAGACTCACCCAAACCCAATCAATCCAAGGGTGGACTCTCAAATATTCACTCCAGATAGAAGCTCCTCTTACTACAGACTTTGGTGAATTCTTCAAGCAGTGATATTTGGCTCTCCTGATTCATGGGCCAAGTGGGAATGCCCCACCCCCAATTTCCAAAACTAAGTATGTAAACGTCCACAGCAGATGTGAATGGCTTTGTATGATGTGTCCTATGGGGAGACTCTCATACGACCAGCTATGAATATCA |
Task1_train_26554 | Consider this mutation in MAN2B1 (mannosidase alpha class 2B member 1) on Chromosome 19. Is this a benign change or a disease-causing variant? | Pathogenic; Inborn genetic diseases | CAGGACAGAGCCTGGGGGCGGTGAGAGGGCGGGGCTAAAGTGAAATGGGCGGGGCCGGAGGTGAGTTGGTGGTTTAGGGGCATGAGCTAGGGCTGTGCCTCTACACAGTCCAGGGGGGTTGGGACTGGGCTGGCACTGGGCGGGGACTGCCCAGGGGATGGGGTTGGCCCGAGGGTTTGGGGCTAATTATGGCCAAATGGATCCCCGCTGAGCCTAGGAAACTCCGCACCCAAACCCGGCTCCCTGGTAGACTTCAATCCGGTCCTCTCTGCCTACCCCGCTGCCCCTCACCTGCGTGCGCGGAGGAGCCCCGAGATTGTAGGCGGCGCCGCCACCCGGGGCCAGCACCACCTGAGGGGCCAGGACCTCCTGCTCCGCCAGGAGCCGGTGTCCGGCGGCTGCAGCCTGGGCTGTGTCCAGCAGCACCAGGTGGCGCCCTCGCACCCACGCCCCCGACCCGTTCTCCATTAGTGGCTCCGATACTCCGCGTCCATCGTCCTTCAGCAGCCTTCGGTGCACCTGGGGGGAGAGTGGCCAGGAGGGGGTGAGAGTCGTGGGTTTGTGGGTGTCCTTGGGCCAGAAACTGGGTAAGGGCGTGTGGGAATGTCAAAAGAAATTAAAGGGTGGGAGGAACGGATGAGGATGAAGGTGAGGGTCTGGTAGGGCAACCCCAGCAGAGGCAGGATCCAAGTAGGCATGGGAACCAGGCCGGAAGGAGGTAAATGCCTAACAGGGGGGCCTGGATATGGCACGCCAGAGCGTGGAGGGAGCCTGGGCAGGAGATGGAGAAAAACGGAGAGGAAAAGCCACACACAGAAATGGAGTCCTTGGCCGGGAGCGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGAGTGGATCACCTGAGGTAAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACCAAAATTAGCCGGGCGTGATGGTGTGTGCCTGTAAGCCCAGCTACTCGGAAGGCTGAGGCAGGACAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATAGTACTATTGCACTCCAGCTTGGACAACAAGAGCAAAACTCCGTCTCAAAGAGAAGAAAAGAAAGAAACGGAGTCCTCAGCTTAGTGGGGCCTGAAAGCAGAGAACTGGGCCAGAAACAGCCTTCAAGGTCCAGCAGGGGTCCAGGTTGGGAGGACCCTGGCTCGGATGGGGCTCTGACCCACTCACCATGAGCTCCAGCGAGCCATCTCTCAGGCTGCTGCCCCCCTGGGAGCGGTCAGTCAGCACAGTCAGCTGCATGTTTCCATCCTGGGAGTTGAAGGGTGAAAGTAGAGGGCAGTCAACCCCAACCCCAGGCAGCTTTGAGATGCTGCAGATAAGGGGTGATTCCCTTTCTATCGAGGTGGGGAGGTGCAGGATGGGGGAGAGCTACCGTGATGTAAATCCGGGTGTTGACTGGATAGTAGTTTCCTGCCACGGGCTCCGTCTGGTTCAGTTTCCAGGTGGGTCGATAATCCCGCCTGGGGTTGGGGGTGAGCTGATCAGGCTTGGGATCTGGCTCCCCAACTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGCTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTGGCTCCCCCGCCCTTCACTCTCCCTTCGTCCTCTGTCTCCCACACTCATGTAATCAGCAAATTTCCCTCACCACCCCTGGGCCCCAACACACCACAGACCACCCCCTCAGTGCTCTCAGTCACCCCCCACCTCCTCTCCAGGATCTCCCGGCCATTGCTGTCTGTGTAGAAGCGTCCCTTTGTCTCCAGCGGTGTGTCAAAACGGCTGATGACCTCCTTCCCCCAGGTGTCGCTGTACCCAATGGGATGGCAAGGTTGTGAGCCTTGGATAAACCCCTCTGCCCTTGCTTCCACACCCCTCTCCCAGCCTGTGCCACTCACCCCACAGGTATCGGCCCCACCGACCACTCTAGCTCCAGGTGCCGCTGTCCTGGGTACAGGCGAACCACCTGGGAACACCAAGCTGAGAAGTTCTGGTGCACCTCCTGCACCAAGGGTGTCTGCGGGCACACGGGTGAGGTGGATGTCAGTCTGTACCTGAGCAGAGGTGAGTCCTACAAATGTCCCCCAACCCTGGCCATAAACCCCATTAAGGCCTACATCAAGGTCAACCTTCAGTCACCGCCACATAATTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTTTGCCCAGGCGGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCAAGGATGGTCTCGATCTCCTGACCTCGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCCACATAATTCTTTTTTCTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTTGCCCAGGATGGAGTGCAGTGGCACAATCTTGCCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGAGGGATTGCAGGTACCTGCCACCACCCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTATCCATGTTGGCCAGACTTGTCTTGAACTCCTGACCTCAGATGATCTGCCTGCCTCTGCCTCGCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCCTCTTTTTTTTTTTTTTTTTTTGAGACAGGGCATCACTATGTAGGCACCTAATCAGCAAATGCTCCCACCTGGTCTTGAACTCCTATGCTCAGCGATCCTCCTGCTTCAGTCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACTGCATCTGGCTTACCACATCACTCTTGAGCGTGGCATAAACGCCTCCTGTTCACCATTGCCCCATAGAATAGGATTCTAGCTTGGCACATGGCTACCTGGGATAAAGACTATATTGTCCAGTCTTCCCTGAGGCTATCAGTAGCTGAGTGACCAGTTTGCCCCATAGAAAGTGATCCAAGTGGTGTCAACAATGTTCCTTGCCCCTGTCCCTCTGCTACTGACTCAAACACAAATGTGGCGGCTGGAGCTTCAGCAGCTATCTTGGACCATGAGGTGGAAACTGAATATTGGGGAAGGCAGAGCAACAAGATAGAAGAGGAGGTCCTGGGTGATTATGGAACCACCCCACTTTCTCTGGACTAACAGCCAGACTTTTTGTTAGAAGAAAATAATCTTCTATCTTATTCTAGTCACAGTTAATTTGGGTAACTCTGTTAGAACAGGCAAAACTATATACAGATATGCAGACATTCATCTCAAAGGGACTCACATGAAACGCGAGGCTCTTGAATGTGGACAAATGTGAGTTTTGTCATCTATGAAAGTCAAACATCAATGAGAGGCCCTGGGAAACCACTGTTCCTAGCCAGATGCACCCATAGGCATTCACCCTGAGACTCACCCAAACCCAATCAATCCAAGGGTGGACTCTCAAATATTCACTCCAGATAGAAGCTCCTCTTACTACAGACTTTGGTGAATTCTTCAAGCAGTGATATTTGGCTCTCCTGATTCATGGGCCAAGTGGGAATGCCCCACCCCCAATTTCCAAAACTAAGTATGTAAACGTCCACAGCAGATGTGAATGGCTTTGTATGATGTGTCCTATGGGGAGACTCTCATACGACCAGCTATGAATATCA | CAGGACAGAGCCTGGGGGCGGTGAGAGGGCGGGGCTAAAGTGAAATGGGCGGGGCCGGAGGTGAGTTGGTGGTTTAGGGGCATGAGCTAGGGCTGTGCCTCTACACAGTCCAGGGGGGTTGGGACTGGGCTGGCACTGGGCGGGGACTGCCCAGGGGATGGGGTTGGCCCGAGGGTTTGGGGCTAATTATGGCCAAATGGATCCCCGCTGAGCCTAGGAAACTCCGCACCCAAACCCGGCTCCCTGGTAGACTTCAATCCGGTCCTCTCTGCCTACCCCGCTGCCCCTCACCTGCGTGCGCGGAGGAGCCCCGAGATTGTAGGCGGCGCCGCCACCCGGGGCCAGCACCACCTGAGGGGCCAGGACCTCCTGCTCCGCCAGGAGCCGGTGTCCGGCGGCTGCAGCCTGGGCTGTGTCCAGCAGCACCAGGTGGCGCCCTCGCACCCACGCCCCCGACCCGTTCTCCATTAGTGGCTCCGATACTCCGCGTCCATCGTCCTTCAGCAGCCTTCGGTGCACCTGGGGGGAGAGTGGCCAGGAGGGGGTGAGAGTCGTGGGTTTGTGGGTGTCCTTGGGCCAGAAACTGGGTAAGGGCGTGTGGGAATGTCAAAAGAAATTAAAGGGTGGGAGGAACGGATGAGGATGAAGGTGAGGGTCTGGTAGGGCAACCCCAGCAGAGGCAGGATCCAAGTAGGCATGGGAACCAGGCCGGAAGGAGGTAAATGCCTAACAGGGGGGCCTGGATATGGCACGCCAGAGCGTGGAGGGAGCCTGGGCAGGAGATGGAGAAAAACGGAGAGGAAAAGCCACACACAGAAATGGAGTCCTTGGCCGGGAGCGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGAGTGGATCACCTGAGGTAAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACCAAAATTAGCCGGGCGTGATGGTGTGTGCCTGTAAGCCCAGCTACTCGGAAGGCTGAGGCAGGACAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATAGTACTATTGCACTCCAGCTTGGACAACAAGAGCAAAACTCCGTCTCAAAGAGAAGAAAAGAAAGAAACGGAGTCCTCAGCTTAGTGGGGCCTGAAAGCAGAGAACTGGGCCAGAAACAGCCTTCAAGGTCCAGCAGGGGTCCAGGTTGGGAGGACCCTGGCTCGGATGGGGCTCTGACCCACTCACCATGAGCTCCAGCGAGCCATCTCTCAGGCTGCTGCCCCCCTGGGAGCGGTCAGTCAGCACAGTCAGCTGCATGTTTCCATCCTGGGAGTTGAAGGGTGAAAGTAGAGGGCAGTCAACCCCAACCCCAGGCAGCTTTGAGATGCTGCAGATAAGGGGTGATTCCCTTTCTATCGAGGTGGGGAGGTGCAGGATGGGGGAGAGCTACCGTGATGTAAATCCGGGTGTTGACTGGATAGTAGTTTCCTGCCACGGGCTCCGTCTGGTTCAGTTTCCAGGTGGGTCGATAATCCCGCCTGGGGTTGGGGGTGAGCTGATCAGGCTTGGGATCTGGCTCCCCAACTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGCTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTGGCTCCCCCGCCCTTCACTCTCCCTTCGTCCTCTGTCTCCCACACTCATGTAATCAGCAAATTTCCCTCACCACCCCTGGGCCCCAACACACCACAGACCACCCCCTCAGTGCTCTCAGTCACCCCCCACCTCCTCTCCAGGATCTCCCAGCCATTGCTGTCTGTGTAGAAGCGTCCCTTTGTCTCCAGCGGTGTGTCAAAACGGCTGATGACCTCCTTCCCCCAGGTGTCGCTGTACCCAATGGGATGGCAAGGTTGTGAGCCTTGGATAAACCCCTCTGCCCTTGCTTCCACACCCCTCTCCCAGCCTGTGCCACTCACCCCACAGGTATCGGCCCCACCGACCACTCTAGCTCCAGGTGCCGCTGTCCTGGGTACAGGCGAACCACCTGGGAACACCAAGCTGAGAAGTTCTGGTGCACCTCCTGCACCAAGGGTGTCTGCGGGCACACGGGTGAGGTGGATGTCAGTCTGTACCTGAGCAGAGGTGAGTCCTACAAATGTCCCCCAACCCTGGCCATAAACCCCATTAAGGCCTACATCAAGGTCAACCTTCAGTCACCGCCACATAATTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTTTGCCCAGGCGGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCAAGGATGGTCTCGATCTCCTGACCTCGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCCACATAATTCTTTTTTCTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTTGCCCAGGATGGAGTGCAGTGGCACAATCTTGCCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGAGGGATTGCAGGTACCTGCCACCACCCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTATCCATGTTGGCCAGACTTGTCTTGAACTCCTGACCTCAGATGATCTGCCTGCCTCTGCCTCGCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCCTCTTTTTTTTTTTTTTTTTTTGAGACAGGGCATCACTATGTAGGCACCTAATCAGCAAATGCTCCCACCTGGTCTTGAACTCCTATGCTCAGCGATCCTCCTGCTTCAGTCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACTGCATCTGGCTTACCACATCACTCTTGAGCGTGGCATAAACGCCTCCTGTTCACCATTGCCCCATAGAATAGGATTCTAGCTTGGCACATGGCTACCTGGGATAAAGACTATATTGTCCAGTCTTCCCTGAGGCTATCAGTAGCTGAGTGACCAGTTTGCCCCATAGAAAGTGATCCAAGTGGTGTCAACAATGTTCCTTGCCCCTGTCCCTCTGCTACTGACTCAAACACAAATGTGGCGGCTGGAGCTTCAGCAGCTATCTTGGACCATGAGGTGGAAACTGAATATTGGGGAAGGCAGAGCAACAAGATAGAAGAGGAGGTCCTGGGTGATTATGGAACCACCCCACTTTCTCTGGACTAACAGCCAGACTTTTTGTTAGAAGAAAATAATCTTCTATCTTATTCTAGTCACAGTTAATTTGGGTAACTCTGTTAGAACAGGCAAAACTATATACAGATATGCAGACATTCATCTCAAAGGGACTCACATGAAACGCGAGGCTCTTGAATGTGGACAAATGTGAGTTTTGTCATCTATGAAAGTCAAACATCAATGAGAGGCCCTGGGAAACCACTGTTCCTAGCCAGATGCACCCATAGGCATTCACCCTGAGACTCACCCAAACCCAATCAATCCAAGGGTGGACTCTCAAATATTCACTCCAGATAGAAGCTCCTCTTACTACAGACTTTGGTGAATTCTTCAAGCAGTGATATTTGGCTCTCCTGATTCATGGGCCAAGTGGGAATGCCCCACCCCCAATTTCCAAAACTAAGTATGTAAACGTCCACAGCAGATGTGAATGGCTTTGTATGATGTGTCCTATGGGGAGACTCTCATACGACCAGCTATGAATATCA 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Task1_train_26555 | This variant affects gene LOC129391064, MAN2B1 (MPRA-validated peak3365 silencer| mannosidase alpha class 2B member 1) located on Chromosome 19. Evaluate its biological effect and specify any disease association. | Pathogenic; Deficiency of alpha-mannosidase | CTGACATGTCTGTCAAGTGTCACCCATGATCACACTGGGTCCTCATAACAGTCCCAGGAAAGGACACTGAGGCTCAGACAAAGGTCACTTGCTCAAGGACACACAATGAGGGGAGTTGTGACAGGAGGTCATAAGCCTAGGGACCTGCTGACCCAGAGTCCACACAGCTCACCATGACACTTCAAATTTGTCACAGGAGCAGGAAAGGGGATTGAAATGGGGTCTCACCTCATTTTCGATGGTTAAAGCAGGGGACCAGGATCTTCTGGGGATGGGCTGTGGTGCGCGGGCCTGGGGCTTCCAGCGAGGCACCTGGGCTACTGAATAGGTGCTGAAGCCCAGGGCGGGCAGTGAGGCTGAGAACAGCAGCTCCGGAGGGTGCGCCTGGCTGTCTGAGCTGGGAAATATTACCACCTCGGATAAAGGAGGAGGGAAACTGAGTCAAGAGTACCCATGGAAAGCTATACATGCATGGAGACAAAAAACTCAAGGAAGGAAAAGAGTCCTGAGATGGGGAAAGGAAATGGAGGTGTGTGTGGTGGGGGGACAGTCAGATTCCAAGGAAATGATTGCAGAGAAGATTCACCAGGTGGAAAAAAAAACCCACCGGGAGGGTGGAGAGACCATGGAGTCGGGGGAGTGAAGGAGGAAGTAGGGGAAGAAACCCTTGAGGCAGGTTCTCGGGGGAGGAAGAGGTTTGGGGGAGGACGTTTTCTGGAATGAAGGAGATGTCCATAAACAGCAATAAATTTTCCTGGGGAAGCGGGGTATTAAAATGGAGGACCAGCCAGGCACGGTGGCTCATGCCTATAATCCAGCAGGCGGAGTTTGAAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGGGAGGACCACTCACAGGAGGCATATGTTCCCAAGGGGAGACTGATATTAAGGGGCAGAGGGAGAAGATACAAGAGGGGGGAAGAGATATGCATGAGTGGGAGGTATTCATGGAAGCAGGCGATATCCATGGGGGCGATGAGGAAATGCCCACTGGGGGAGGAGTCCCAGCGGGGGAATATTCGTTGTTTGGGCTCACATCGCTGGGCACTGTCCTGCCATTGGGGTCCTTCACAACGAAAACGCCTTCGCTGACCGGCAGCCGTACCATCCAATTCACCTTCCGCCCCAGGGGATTATAAACGATGACCTGGAACTGGGGAGGCGGGGGTCAGAGAGGGCATGGGTCACAGCAGGCCTTCTCCAAACCCACCCACTTTGCACAGAAACACCCCTGGCTGGTCCTAGTGTGGTCACGGCACTTAAGGCCAAGCCCCCTCGAGATGCGTTGTTCTCTCTGCTGACCCAGCTTCGCAGCCCACGTAATTTCACTCCTGTATAGTCCTCCAAAAACATTTTCCAACTACCCCCTCTAAAGCCCATCTGCCCTAGATCCACCCCTCCCGTCCCGGCTCACGCGCGCCGCCGTCTGGCTGAGCGGGCAGATGCTGATGTTTAGCTGTTGGCAAAAGGTGAAGTGATCTTTGAAGCCTCTGAGCCGCGCCAGCGCGTTGCTCAGAAGAACCTGCGGAAGAGCGCAAAGGGACCGGTGGGTTCAGGACGCCAGGCCTGACTCCTCCCCTCTCCTCAGGCCCCGCCCCGTTCCGGTCTCTGTCCCGCCTCCCTCAAGAGTCGCCCCAAAACCCCTTCTAGCCCCACCCTGCTGCCCTTGACTATACCCCATAGCTGTCTCCGCCTCCTCTTGCCCACGCCCCGCCTCCTTCCCCCCTCCAAAGCCCCGCCCCGTTCCTGTATCTTTCCCCGCCTCCTACAAGCCCCGCCCCCACGAGCCCTTGTAGCCCCGCCACAGGGCTCTCGGCTACGCCTCACACCTGTCTCTGTCCCCTTTCCCAGGCCCTGGCCCCGCCCCTTCCTGTCTCCACCCCCGTGTCTCCCAAGTCTCGCCCCGCGCACCTCGCAAGGCCCCCAGCCTGCCGCAAGCTGGCGCGCGTAGTCGTTGGCCACGTGCTGGCGGGAGGTGCCGCTGACGGCGTCGTGATGCTGGAGCACAGCCATCGCCTCATCTGCTCATAGACAATGAGTCCGGTGAGGTTCTGTGGGACTCAGCTGAGACCCCAAGGGGAAGCGAAAGGTCCGGTGCTGGCGGGCAGGATTCTTAGAGGCTTTAAGAAGGAACTCGAGGACGGCTGGGGGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGACCGAGGCGGGCGGATCACGAGGTCAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGTCAGGAGAATGGCGTGAACACGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGAGACAAATCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAACTCGAGGGGGGCGGCCTAGGGGTGGTTTCCAACTTCAGCCGCAAACCTCTTCCCCTCTTGGGCCCGACACTTACTGAGGGGTGCACTGTCTCCGGAGCCATAGGGTCCCACGTTGGCCGCCAGGCCCACCAGCGCCTCCAGCTGGTTGCACACCTGGAGGCAGAGGGGTATGTTGGGGCGCCCAGCCTGTCGGGCCTCGGGGCTGCATGCCCCCTCTAGCCCGGCTCCTACCCACCTGCAGGAAGTTGTAGCTGAGGCGCTCGTAGCGTTTGAGGGCCGGCCGACTGGAAAAGTAACCGGTCCAGAACTGGTGGGGGCCATCCGCGTAAGGGAAGAAGTCGTCATGTTTCACTGACCTACAGCGGCAGGGGCATTGAGGGCAGGGTCATGACCCACGGGGCATGCCAACCCCCCCAAGCTCCCCAGTTTCCCCAAATACCAGGTGAGGTTGGCCTTGTTCAGCTCCCAGAGGTAACAAGCGGGGGTGGAGTAGAGAACATGGACACTGCTTCCTTTTGCCTGCTGCTGGGGGAGGCGACGGAGTGAGCCCTCGGGAGTCCGCACCTTCCTGGGGGCCCACACTTCCACACATGTGTGCACATTCATGCATCCCATAGGTTCAGTTTCTCTAAATACATATTTGGCGTGCAAGCCAATGGTTGGGTGTGAAAATGAATTTTGGCTGAAGTCAAACATGACCACTAGCCTTTTTTAAAAGGATTTCAGAGATGCAAGAATAAACCTGAAATTTTACTAAACTTTTACAATAATTCCAACTTTATTATTAAAAACTTTTGTGGAAAAACTAAGTGTGACATTATAGGGCAGGAATAATCGTTTTGCAGGACTGTCAGATTGTTACCAAAAAACACAACTTTTTTTTTTTGGGACGGAGTCTTACTTTGTTGCCCAGGCTGTAGTGCAGTGGCTCAATCTCAGCTCACTGCAAGCTCCACCTCTTGGGTTCACGCCATTCTCCAGCCTCAGCCTCATGAGTACCTGGGACTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTGCATTTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCTAGACACAATTTTTATAATGAATGGAGGTGCACTTTCACCTGAGCAAGGTGGAGGAACAAGAAAGTGACCTATGTGAGGAAAAGGATGTTTGTTTTGCACGAGCTGTGTCCCCCAATGTACACAGTAGGTGCTCAATAAACTTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTGACTCTGTCGCCCAAGCTGGAGTGCAGTGGCACGATCTCAGCTGGCTGCAAACTCCGCCTCCCAGGTTCCAGCGATTCTCCTGCCTCAGCCTGCCGAGTAGCTGGTCTTACAGATGAGTGCCATCACGCCCACCTAATTTGTAGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGTCTTCAAGTGATCCGCCCACCTCAGATTAC | CTGACATGTCTGTCAAGTGTCACCCATGATCACACTGGGTCCTCATAACAGTCCCAGGAAAGGACACTGAGGCTCAGACAAAGGTCACTTGCTCAAGGACACACAATGAGGGGAGTTGTGACAGGAGGTCATAAGCCTAGGGACCTGCTGACCCAGAGTCCACACAGCTCACCATGACACTTCAAATTTGTCACAGGAGCAGGAAAGGGGATTGAAATGGGGTCTCACCTCATTTTCGATGGTTAAAGCAGGGGACCAGGATCTTCTGGGGATGGGCTGTGGTGCGCGGGCCTGGGGCTTCCAGCGAGGCACCTGGGCTACTGAATAGGTGCTGAAGCCCAGGGCGGGCAGTGAGGCTGAGAACAGCAGCTCCGGAGGGTGCGCCTGGCTGTCTGAGCTGGGAAATATTACCACCTCGGATAAAGGAGGAGGGAAACTGAGTCAAGAGTACCCATGGAAAGCTATACATGCATGGAGACAAAAAACTCAAGGAAGGAAAAGAGTCCTGAGATGGGGAAAGGAAATGGAGGTGTGTGTGGTGGGGGGACAGTCAGATTCCAAGGAAATGATTGCAGAGAAGATTCACCAGGTGGAAAAAAAAACCCACCGGGAGGGTGGAGAGACCATGGAGTCGGGGGAGTGAAGGAGGAAGTAGGGGAAGAAACCCTTGAGGCAGGTTCTCGGGGGAGGAAGAGGTTTGGGGGAGGACGTTTTCTGGAATGAAGGAGATGTCCATAAACAGCAATAAATTTTCCTGGGGAAGCGGGGTATTAAAATGGAGGACCAGCCAGGCACGGTGGCTCATGCCTATAATCCAGCAGGCGGAGTTTGAAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGGGAGGACCACTCACAGGAGGCATATGTTCCCAAGGGGAGACTGATATTAAGGGGCAGAGGGAGAAGATACAAGAGGGGGGAAGAGATATGCATGAGTGGGAGGTATTCATGGAAGCAGGCGATATCCATGGGGGCGATGAGGAAATGCCCACTGGGGGAGGAGTCCCAGCGGGGGAATATTCGTTGTTTGGGCTCACATCGCTGGGCACTGTCCTGCCATTGGGGTCCTTCACAACGAAAACGCCTTCGCTGACCGGCAGCCGTACCATCCAATTCACCTTCCGCCCCAGGGGATTATAAACGATGACCTGGAACTGGGGAGGCGGGGGTCAGAGAGGGCATGGGTCACAGCAGGCCTTCTCCAAACCCACCCACTTTGCACAGAAACACCCCTGGCTGGTCCTAGTGTGGTCACGGCACTTAAGGCCAAGCCCCCTCGAGATGCGTTGTTCTCTCTGCTGACCCAGCTTCGCAGCCCACGTAATTTCACTCCTGTATAGTCCTCCAAAAACATTTTCCAACTACCCCCTCTAAAGCCCATCTGCCCTAGATCCACCCCTCCCGTCCCGGCTCACGCGCGCCGCCGTCTGGCTGAGCGGGCAGATGCTGATGTTTAGCTGTTGGCAAAAGGTGAAGTGATCTTTGAAGCCTCTGAGCCGCGCCAGCGCGTTGCTCAGAAGAACCTGCGGAAGAGCGCAAAGGGACCGGTGGGTTCAGGACGCCAGGCCTGACTCCTCCCCTCTCCTCAGGCCCCGCCCCGTTCCGGTCTCTGTCCCGCCTCCCTCAAGAGTCGCCCCAAAACCCCTTCTAGCCCCACCCTGCTGCCCTTGACTATACCCCATAGCTGTCTCCGCCTCCTCTTGCCCACGCCCCGCCTCCTTCCCCCCTCCAAAGCCCCGCCCCGTTCCTGTATCTTTCCCCGCCTCCTACAAGCCCCGCCCCCACGAGCCCTTGTAGCCCCGCCACAGGGCTCTCGGCTACGCCTCACACCTGTCTCTGTCCCCTTTCCCAGGCCCTGGCCCCGCCCCTTCCTGTCTCCACCCCCGTGTCTCCCAAGTCTCGCCCCGCGCACCTCGCAAGGCCCCCAGCCTGCCGCAAGCTGGCGCGCGTAGTCGTTGGCCACGTGCTGGCGGGAGGTGCAGCTGACGGCGTCGTGATGCTGGAGCACAGCCATCGCCTCATCTGCTCATAGACAATGAGTCCGGTGAGGTTCTGTGGGACTCAGCTGAGACCCCAAGGGGAAGCGAAAGGTCCGGTGCTGGCGGGCAGGATTCTTAGAGGCTTTAAGAAGGAACTCGAGGACGGCTGGGGGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGACCGAGGCGGGCGGATCACGAGGTCAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGTCAGGAGAATGGCGTGAACACGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGAGACAAATCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAACTCGAGGGGGGCGGCCTAGGGGTGGTTTCCAACTTCAGCCGCAAACCTCTTCCCCTCTTGGGCCCGACACTTACTGAGGGGTGCACTGTCTCCGGAGCCATAGGGTCCCACGTTGGCCGCCAGGCCCACCAGCGCCTCCAGCTGGTTGCACACCTGGAGGCAGAGGGGTATGTTGGGGCGCCCAGCCTGTCGGGCCTCGGGGCTGCATGCCCCCTCTAGCCCGGCTCCTACCCACCTGCAGGAAGTTGTAGCTGAGGCGCTCGTAGCGTTTGAGGGCCGGCCGACTGGAAAAGTAACCGGTCCAGAACTGGTGGGGGCCATCCGCGTAAGGGAAGAAGTCGTCATGTTTCACTGACCTACAGCGGCAGGGGCATTGAGGGCAGGGTCATGACCCACGGGGCATGCCAACCCCCCCAAGCTCCCCAGTTTCCCCAAATACCAGGTGAGGTTGGCCTTGTTCAGCTCCCAGAGGTAACAAGCGGGGGTGGAGTAGAGAACATGGACACTGCTTCCTTTTGCCTGCTGCTGGGGGAGGCGACGGAGTGAGCCCTCGGGAGTCCGCACCTTCCTGGGGGCCCACACTTCCACACATGTGTGCACATTCATGCATCCCATAGGTTCAGTTTCTCTAAATACATATTTGGCGTGCAAGCCAATGGTTGGGTGTGAAAATGAATTTTGGCTGAAGTCAAACATGACCACTAGCCTTTTTTAAAAGGATTTCAGAGATGCAAGAATAAACCTGAAATTTTACTAAACTTTTACAATAATTCCAACTTTATTATTAAAAACTTTTGTGGAAAAACTAAGTGTGACATTATAGGGCAGGAATAATCGTTTTGCAGGACTGTCAGATTGTTACCAAAAAACACAACTTTTTTTTTTTGGGACGGAGTCTTACTTTGTTGCCCAGGCTGTAGTGCAGTGGCTCAATCTCAGCTCACTGCAAGCTCCACCTCTTGGGTTCACGCCATTCTCCAGCCTCAGCCTCATGAGTACCTGGGACTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTGCATTTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCTAGACACAATTTTTATAATGAATGGAGGTGCACTTTCACCTGAGCAAGGTGGAGGAACAAGAAAGTGACCTATGTGAGGAAAAGGATGTTTGTTTTGCACGAGCTGTGTCCCCCAATGTACACAGTAGGTGCTCAATAAACTTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTGACTCTGTCGCCCAAGCTGGAGTGCAGTGGCACGATCTCAGCTGGCTGCAAACTCCGCCTCCCAGGTTCCAGCGATTCTCCTGCCTCAGCCTGCCGAGTAGCTGGTCTTACAGATGAGTGCCATCACGCCCACCTAATTTGTAGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGTCTTCAAGTGATCCGCCCACCTCAGATTAC 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Task1_train_26556 | This variant affects the gene MAN2B1 (mannosidase alpha class 2B member 1) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not specified | CTTGGCGGGTTGTAACCATTGGGAAGCACACCTGCAGGTCACACCAAGTTCAAGGGGTGGCCCATCACCCAGACCTTCCCTGGTTTCAAAGCCGGCCATGTCCCACCCAGGATGGGCTTCAGAATTTGTGTCCCAATGCAAAAGGAAATGCAGGGCCTTTGTTCCCAGACTATAGGAATTCCAGGACAGTGACAACAGAGCAGATATCAAGCCCAGGGCCCTTCTGAGTGTGTGGCACCATGGCTGGCCCTGCCCTCACCAAGCCCCCTACCAGTGAAGAGGTCCGCGGTCGGGGGCTTCAGGCTGGTGCTGGCCCGCCACACCTGCTCCATCTCCAGCTTCTGCATCCGTACCCACTTATCTTGATAATCAAGGCGCCCAAAGAAGAAGCCGTCGAAGCCCATCTGGGGATGAGGGAGGAAAAGGCAGTGTGAATTAGTGCCCAGCCCTCTCACCACCAAACTCCCCTCTGCTTGGGAGGGGCAGGTCAGAGCACAGGTTAAAAAGCAGTGCTAGGTCGATGTGGTGGCTCTTGCCTATGATCCCAGCCTTCTGGGAGGCCAAAACAGGAGGATCACTTAAACCCAGGAGTTTTTGAGACCAGCCTGCACAACACGGGCAGACTGTCTACAAAAAATTTAAAAATTAGCCAGGCGTAGTGGTGCGCTCTTGTAGTCTCATCTACTAGGGGGGCTGAGACAGGAGAATCGCTTGAATCCGGGAGATTGAGGCTATAGTGAGTTAGGATTGCACCACTGCACTCCAGCCTGGATGACAGCAAGACCCTGTCTCAAAAAACAAAAACAAAAACACGTAGGGCTGAAACAGAGAGGCCTCCAGCTTATTTCCAAGCTTGGGGAAGTTTCAGAACTCACCACCTTGGGCTAGCAGGGAGAGGGCGGGTCCAACATCAGAACCCAGGTTCACCTCCCCAGCACTGTCAAAGCGCAGAGCAGGCCTGACTCCAGGAATGAGGTTCCCCCTTCCACAGCCTGAGGATGGATGGGGTCTGAGCACAGGTAATGAACCTGTTTTTAAGGCAGCCTAGGCATCCACTTGCCACCCGGTTTAGGGAGGAGCCAGGACCCGAGCTAGTGGGTGGGGCCAGAACACCAAGAGGGGCCTATTAGGGGAGAGGGCGGAGCCAGCCGGAGCTGGGTCAGCCTGGGCTGGGCATAGCCGGCTGAGGCCAGAGCTCAAAAGCCACTGGCTTTACGGCTCACTCAAGGGGCAGGGCTTCAACAGGCCTAGGCCTGGGCCTGGTCCTTGTGAGATTGCAGGGAGAGGGCGGGGTTTGACTGGGCGAGGGAGGAGCCAGAGTGAGTGAAGAAGTGGGCCCAAGAGAGGTCCCGGGTCGCACCTGCGCAAACAGCGAGGCCTGCTCCCGAGAGTGGCCGAAGGGGTCAATGTGCCAGGCCACACGGGGTCGCCCATCATTGCCAAATGTGTCCTCCAGAAAGCGCAGCCCAAGTGTCATCTGGTCCACGATGGCACCGTAGTGGGTGGCTGCCTCATCGTTCATCACCCAGCCACCATTGGCGAACTCCAGGCGCCCTGTGCCAGGACAGGCAAGGTCAGGGTCAGCGGTCAGAGCCAGGAGTGGGAGTAGGGTGGGTGATACTGGGAATGTGAAAGCCTGCCTGTGTACACATTTCTGGCGGAAGGACAAGAGGGGTCGCTCCCAGGCCATAGTTCCCAGATATGGGAAAGAGGCCCCCTGCATGGCAGGCTTCCCAGAGGATGCACAGCAGGTGGGGCTTTGTGGGATGTATAGGAGGTCTCCAAATGGAGAGTCCAGGCAGGCGGAGCGACACGCATGTTATACAGCTTGCACGTGGCATGACAAATCTCAGAAACCAGAGATGCAGAAGCAGAAGCTGGGCTGGGCTTCCTCTTTTCACTTCCTTGGGGTAGGCTCACCCTGGCGCACAAGGTCTCGCACGACTTCCTGTGTGGCATTTGTCTGCTGGTGCCACCAACGGGAGAAGAAGGCAATCTCCACGTAAATGAAGCGACGGGTGGGATCTGCCAGCAAGGCAGAGATGACCGAGTCCAGGATGTACTGCACACCGGCGTGCTGGATGTCATTCTTGACTGTGGATAACAGGGATAAGGCTCTCAGGGAACAGCAGAGCCAAGGGGGTTATTCCTAGACAGAGGAGCCCAAACCCTGGATATTAGGGTAGCACTGGCCCCACCCTAATGTCCAGGACCCAGAGGGATTACAGGGACCATGGGGATCCCAGGGACCAGTCCCCATCCTCTACTCACTTCCATAAAAGTACTGGTCCACGGTTTTGAGCCAGCCCACGTCATCATGTGTGTGAGGCAGCAGGTGCACGTTCAGCATGTTCGGCTGCACTGTGGGGCATGTCTGCACAGGGACCCCAAACACACATACCTTGTCAATAACCCCCGAGGTCGGGGGCTGCAGAGTAAGTCTTGATCTAGAGGTGAGTGACTCAGAGAGGCCTGATCTCGCCTATGTGCAGAGGAGGCCAGGCCCTCCCAGGCAGGACACACACATACATAGTTGTGCTCATAGATACAACTCCACTTTGCACAACCCCACAGGGCAGCTCTCATTCACACTCCGGGAAAATAATAATAGAAGTAGCTGATGTTTGTTCAGCATTTGCCGACAGCAGACGGCCACCGTGGGAGGTGGGGTGATGTTATCCCCAGTTTCCAGATGAAGGCACTGAGGCTTAGAGAGGATAGGTGACTTGCCCAACGTCACACACTCAGGAAGTGTAAGAGCTAGGCTGGAATTTCAGGCAGACTCCAGAGTCCCAGCTCTCAGCCAGCACCTCCCCCCACACATACACTGCTCACCCCCTGCCACCTCCTGCCCCTCCAATCCCACAGTTAAGTGCAGACAAAGTCTAGGCAAGCATCCCGGAGACACGGAGGCAGGTACAATCAGACACAGTCCTATACTCAGATGCGCACAGCCAGACCTCGCAATGACACAAAGCACGCACTCAGACCACACTGTCATATCATCAGCCATTCACTAGACACCCACAGGACAGACCCACCCACACCTCTAGACTGTATTCTGGGTTTCACTCTGCCTCCTGTACGTTTCAGCTCGGAGGCCCCACTCACCTCGTATCCCCCGGCCCGAGCACCGGCAGCCGCCAGCAACAAAAGGAAAAAGCAGAGAGGCGGGAGCGGTGGCCGCAGGGCGCGGGACATGGTCCAGGGGCCTGCTGAGTCCAGGCAGCCGCGAGCGCAGACCCCCGAAGCCCGCGCGTAGGCGCCCATGGCTCAGCAGCTTCCTCCTGGGGTTCCCCGGCCCTGGAAAGGCCGGGCAAACGCCCCGCCCCCAGACCCGGCCGGGCCAATCGGGGTGGGGGGCGGGGCCAGGGCGCGGTCTGGAGGCTCACGGGAGAGAGGCTGTAGCCCTGGGCAATCCCGGGGGTCGTTACAGGAAGGTAGGAAAATGCCACCCTCAGGGCACTGGTTGGGCTAAAGGTGACACTGGCGTCTCACGGGCTATGAAGACGGAATGCCTCTTAATGCCGGAATTCCAAGACGGAATGCCTCTTAATGCCGGTAGGAGCAGAAGTGCTTTTCCTAAGGGGGCCGGGTTTTCCTAGCCGGTGTAGTGTGTCCATGGGAATCCAGGGTGTCCGTCCCATGGACCTTCAGCGCTAGGGTCCTGGAAGGACCTAGCTTGCCTAAGAGGAGGATCTGATGAAGAGTCCTATACTGTGGGGATTGGGACGTTGGGTAAATACCCCTGGAGTACCAGGGATGGGATCCAGCCTGGTTGAGAAGGATCCCTGGGTGTTCCGGAGAGAAAAGAGGGTCTGACAAGTGGGGAAGGACCCCGAGTCTTTCATGCCTTTCCCAATTCCTACCAGTTCATTCTCTGATAAGAAAACAAAGCCCAGGGCAGGCGCAGTGGCTCAAGCCTGCAATCCCAGCACTTTGGGAGGGCCAGGCTGGTGAATCACTTGGGCCTGGGAGTTTGAGACCAGCCTGGGCAACATGGGTTGTTTTGTAGAGACGGGTTTGAAAACACAAAATTTGTAATTTTACACAAAATGTAAAAATACAAAAATTAGCTGGGCATGGTGGCACATGC 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CTTGGCGGGTTGTAACCATTGGGAAGCACACCTGCAGGTCACACCAAGTTCAAGGGGTGGCCCATCACCCAGACCTTCCCTGGTTTCAAAGCCGGCCATGTCCCACCCAGGATGGGCTTCAGAATTTGTGTCCCAATGCAAAAGGAAATGCAGGGCCTTTGTTCCCAGACTATAGGAATTCCAGGACAGTGACAACAGAGCAGATATCAAGCCCAGGGCCCTTCTGAGTGTGTGGCACCATGGCTGGCCCTGCCCTCACCAAGCCCCCTACCAGTGAAGAGGTCCGCGGTCGGGGGCTTCAGGCTGGTGCTGGCCCGCCACACCTGCTCCATCTCCAGCTTCTGCATCCGTACCCACTTATCTTGATAATCAAGGCGCCCAAAGAAGAAGCCGTCGAAGCCCATCTGGGGATGAGGGAGGAAAAGGCAGTGTGAATTAGTGCCCAGCCCTCTCACCACCAAACTCCCCTCTGCTTGGGAGGGGCAGGTCAGAGCACAGGTTAAAAAGCAGTGCTAGGTCGATGTGGTGGCTCTTGCCTATGATCCCAGCCTTCTGGGAGGCCAAAACAGGAGGATCACTTAAACCCAGGAGTTTTTGAGACCAGCCTGCACAACACGGGCAGACTGTCTACAAAAAATTTAAAAATTAGCCAGGCGTAGTGGTGCGCTCTTGTAGTCTCATCTACTAGGGGGGCTGAGACAGGAGAATCGCTTGAATCCGGGAGATTGAGGCTATAGTGAGTTAGGATTGCACCACTGCACTCCAGCCTGGATGACAGCAAGACCCTGTCTCAAAAAACAAAAACAAAAACACGTAGGGCTGAAACAGAGAGGCCTCCAGCTTATTTCCAAGCTTGGGGAAGTTTCAGAACTCACCACCTTGGGCTAGCAGGGAGAGGGCGGGTCCAACATCAGAACCCAGGTTCACCTCCCCAGCACTGTCAAAGCGCAGAGCAGGCCTGACTCCAGGAATGAGGTTCCCCCTTCCACAGCCTGAGGATGGATGGGGTCTGAGCACAGGTAATGAACCTGTTTTTAAGGCAGCCTAGGCATCCACTTGCCACCCGGTTTAGGGAGGAGCCAGGACCCGAGCTAGTGGGTGGGGCCAGAACACCAAGAGGGGCCTATTAGGGGAGAGGGCGGAGCCAGCCGGAGCTGGGTCAGCCTGGGCTGGGCATAGCCGGCTGAGGCCAGAGCTCAAAAGCCACTGGCTTTACGGCTCACTCAAGGGGCAGGGCTTCAACAGGCCTAGGCCTGGGCCTGGTCCTTGTGAGATTGCAGGGAGAGGGCGGGGTTTGACTGGGCGAGGGAGGAGCCAGAGTGAGTGAAGAAGTGGGCCCAAGAGAGGTCCCGGGTCGCACCTGCGCAAACAGCGAGGCCTGCTCCCGAGAGTGGCCGAAGGGGTCAATGTGCCAGGCCACACGGGGTCGCCCATCATTGCCAAATGTGTCCTCCAGAAAGCGCAGCCCAAGTGTCATCTGGTCCACGATGGCACCGTAGTGGGTGGCTGCCTCATCGTTCATCACCCAGCCACCATTGGCGAACTCCAGGCGCCCTGTGCCAGGACAGGCAAGGTCAGGGTCAGCGGTCAGAGCCAGGAGTGGGAGTAGGGTGGGTGATACTGGGAATGTGAAAGCCTGCCTGTGTACACATTTCTGGCGGAAGGACAAGAGGGGTCGCTCCCAGGCCATAGTTCCCAGATATGGGAAAGAGGCCCCCTGCATGGCAGGCTTCCCAGAGGATGCACAGCAGGTGGGGCTTTGTGGGATGTATAGGAGGTCTCCAAATGGAGAGTCCAGGCAGGCGGAGCGACACGCATGTTATACAGCTTGCACGTGGCATGACAAATCTCAGAAACCAGAGATGCAGAAGCAGAAGCTGGGCTGGGCTTCCTCTTTTCACTTCCTTGGGGTAGGCTCACCCTGGCGCACAAGGTCTCGCACGACTTCCTGTGTGGCATTTGTCTGCTGGTGCCACCAACGGGAGAAGAAGGCAATCTCCACGTAAATGAAGCGACGGGTGGGATCTGCCAGCAAGGCAGAGATGACCAAGTCCAGGATGTACTGCACACCGGCGTGCTGGATGTCATTCTTGACTGTGGATAACAGGGATAAGGCTCTCAGGGAACAGCAGAGCCAAGGGGGTTATTCCTAGACAGAGGAGCCCAAACCCTGGATATTAGGGTAGCACTGGCCCCACCCTAATGTCCAGGACCCAGAGGGATTACAGGGACCATGGGGATCCCAGGGACCAGTCCCCATCCTCTACTCACTTCCATAAAAGTACTGGTCCACGGTTTTGAGCCAGCCCACGTCATCATGTGTGTGAGGCAGCAGGTGCACGTTCAGCATGTTCGGCTGCACTGTGGGGCATGTCTGCACAGGGACCCCAAACACACATACCTTGTCAATAACCCCCGAGGTCGGGGGCTGCAGAGTAAGTCTTGATCTAGAGGTGAGTGACTCAGAGAGGCCTGATCTCGCCTATGTGCAGAGGAGGCCAGGCCCTCCCAGGCAGGACACACACATACATAGTTGTGCTCATAGATACAACTCCACTTTGCACAACCCCACAGGGCAGCTCTCATTCACACTCCGGGAAAATAATAATAGAAGTAGCTGATGTTTGTTCAGCATTTGCCGACAGCAGACGGCCACCGTGGGAGGTGGGGTGATGTTATCCCCAGTTTCCAGATGAAGGCACTGAGGCTTAGAGAGGATAGGTGACTTGCCCAACGTCACACACTCAGGAAGTGTAAGAGCTAGGCTGGAATTTCAGGCAGACTCCAGAGTCCCAGCTCTCAGCCAGCACCTCCCCCCACACATACACTGCTCACCCCCTGCCACCTCCTGCCCCTCCAATCCCACAGTTAAGTGCAGACAAAGTCTAGGCAAGCATCCCGGAGACACGGAGGCAGGTACAATCAGACACAGTCCTATACTCAGATGCGCACAGCCAGACCTCGCAATGACACAAAGCACGCACTCAGACCACACTGTCATATCATCAGCCATTCACTAGACACCCACAGGACAGACCCACCCACACCTCTAGACTGTATTCTGGGTTTCACTCTGCCTCCTGTACGTTTCAGCTCGGAGGCCCCACTCACCTCGTATCCCCCGGCCCGAGCACCGGCAGCCGCCAGCAACAAAAGGAAAAAGCAGAGAGGCGGGAGCGGTGGCCGCAGGGCGCGGGACATGGTCCAGGGGCCTGCTGAGTCCAGGCAGCCGCGAGCGCAGACCCCCGAAGCCCGCGCGTAGGCGCCCATGGCTCAGCAGCTTCCTCCTGGGGTTCCCCGGCCCTGGAAAGGCCGGGCAAACGCCCCGCCCCCAGACCCGGCCGGGCCAATCGGGGTGGGGGGCGGGGCCAGGGCGCGGTCTGGAGGCTCACGGGAGAGAGGCTGTAGCCCTGGGCAATCCCGGGGGTCGTTACAGGAAGGTAGGAAAATGCCACCCTCAGGGCACTGGTTGGGCTAAAGGTGACACTGGCGTCTCACGGGCTATGAAGACGGAATGCCTCTTAATGCCGGAATTCCAAGACGGAATGCCTCTTAATGCCGGTAGGAGCAGAAGTGCTTTTCCTAAGGGGGCCGGGTTTTCCTAGCCGGTGTAGTGTGTCCATGGGAATCCAGGGTGTCCGTCCCATGGACCTTCAGCGCTAGGGTCCTGGAAGGACCTAGCTTGCCTAAGAGGAGGATCTGATGAAGAGTCCTATACTGTGGGGATTGGGACGTTGGGTAAATACCCCTGGAGTACCAGGGATGGGATCCAGCCTGGTTGAGAAGGATCCCTGGGTGTTCCGGAGAGAAAAGAGGGTCTGACAAGTGGGGAAGGACCCCGAGTCTTTCATGCCTTTCCCAATTCCTACCAGTTCATTCTCTGATAAGAAAACAAAGCCCAGGGCAGGCGCAGTGGCTCAAGCCTGCAATCCCAGCACTTTGGGAGGGCCAGGCTGGTGAATCACTTGGGCCTGGGAGTTTGAGACCAGCCTGGGCAACATGGGTTGTTTTGTAGAGACGGGTTTGAAAACACAAAATTTGTAATTTTACACAAAATGTAAAAATACAAAAATTAGCTGGGCATGGTGGCACATGC 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Task1_train_26557 | Given a variant located on Chromosome 19 and affecting MAN2B1 (mannosidase alpha class 2B member 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Deficiency of alpha-mannosidase | CTTGGCGGGTTGTAACCATTGGGAAGCACACCTGCAGGTCACACCAAGTTCAAGGGGTGGCCCATCACCCAGACCTTCCCTGGTTTCAAAGCCGGCCATGTCCCACCCAGGATGGGCTTCAGAATTTGTGTCCCAATGCAAAAGGAAATGCAGGGCCTTTGTTCCCAGACTATAGGAATTCCAGGACAGTGACAACAGAGCAGATATCAAGCCCAGGGCCCTTCTGAGTGTGTGGCACCATGGCTGGCCCTGCCCTCACCAAGCCCCCTACCAGTGAAGAGGTCCGCGGTCGGGGGCTTCAGGCTGGTGCTGGCCCGCCACACCTGCTCCATCTCCAGCTTCTGCATCCGTACCCACTTATCTTGATAATCAAGGCGCCCAAAGAAGAAGCCGTCGAAGCCCATCTGGGGATGAGGGAGGAAAAGGCAGTGTGAATTAGTGCCCAGCCCTCTCACCACCAAACTCCCCTCTGCTTGGGAGGGGCAGGTCAGAGCACAGGTTAAAAAGCAGTGCTAGGTCGATGTGGTGGCTCTTGCCTATGATCCCAGCCTTCTGGGAGGCCAAAACAGGAGGATCACTTAAACCCAGGAGTTTTTGAGACCAGCCTGCACAACACGGGCAGACTGTCTACAAAAAATTTAAAAATTAGCCAGGCGTAGTGGTGCGCTCTTGTAGTCTCATCTACTAGGGGGGCTGAGACAGGAGAATCGCTTGAATCCGGGAGATTGAGGCTATAGTGAGTTAGGATTGCACCACTGCACTCCAGCCTGGATGACAGCAAGACCCTGTCTCAAAAAACAAAAACAAAAACACGTAGGGCTGAAACAGAGAGGCCTCCAGCTTATTTCCAAGCTTGGGGAAGTTTCAGAACTCACCACCTTGGGCTAGCAGGGAGAGGGCGGGTCCAACATCAGAACCCAGGTTCACCTCCCCAGCACTGTCAAAGCGCAGAGCAGGCCTGACTCCAGGAATGAGGTTCCCCCTTCCACAGCCTGAGGATGGATGGGGTCTGAGCACAGGTAATGAACCTGTTTTTAAGGCAGCCTAGGCATCCACTTGCCACCCGGTTTAGGGAGGAGCCAGGACCCGAGCTAGTGGGTGGGGCCAGAACACCAAGAGGGGCCTATTAGGGGAGAGGGCGGAGCCAGCCGGAGCTGGGTCAGCCTGGGCTGGGCATAGCCGGCTGAGGCCAGAGCTCAAAAGCCACTGGCTTTACGGCTCACTCAAGGGGCAGGGCTTCAACAGGCCTAGGCCTGGGCCTGGTCCTTGTGAGATTGCAGGGAGAGGGCGGGGTTTGACTGGGCGAGGGAGGAGCCAGAGTGAGTGAAGAAGTGGGCCCAAGAGAGGTCCCGGGTCGCACCTGCGCAAACAGCGAGGCCTGCTCCCGAGAGTGGCCGAAGGGGTCAATGTGCCAGGCCACACGGGGTCGCCCATCATTGCCAAATGTGTCCTCCAGAAAGCGCAGCCCAAGTGTCATCTGGTCCACGATGGCACCGTAGTGGGTGGCTGCCTCATCGTTCATCACCCAGCCACCATTGGCGAACTCCAGGCGCCCTGTGCCAGGACAGGCAAGGTCAGGGTCAGCGGTCAGAGCCAGGAGTGGGAGTAGGGTGGGTGATACTGGGAATGTGAAAGCCTGCCTGTGTACACATTTCTGGCGGAAGGACAAGAGGGGTCGCTCCCAGGCCATAGTTCCCAGATATGGGAAAGAGGCCCCCTGCATGGCAGGCTTCCCAGAGGATGCACAGCAGGTGGGGCTTTGTGGGATGTATAGGAGGTCTCCAAATGGAGAGTCCAGGCAGGCGGAGCGACACGCATGTTATACAGCTTGCACGTGGCATGACAAATCTCAGAAACCAGAGATGCAGAAGCAGAAGCTGGGCTGGGCTTCCTCTTTTCACTTCCTTGGGGTAGGCTCACCCTGGCGCACAAGGTCTCGCACGACTTCCTGTGTGGCATTTGTCTGCTGGTGCCACCAACGGGAGAAGAAGGCAATCTCCACGTAAATGAAGCGACGGGTGGGATCTGCCAGCAAGGCAGAGATGACCGAGTCCAGGATGTACTGCACACCGGCGTGCTGGATGTCATTCTTGACTGTGGATAACAGGGATAAGGCTCTCAGGGAACAGCAGAGCCAAGGGGGTTATTCCTAGACAGAGGAGCCCAAACCCTGGATATTAGGGTAGCACTGGCCCCACCCTAATGTCCAGGACCCAGAGGGATTACAGGGACCATGGGGATCCCAGGGACCAGTCCCCATCCTCTACTCACTTCCATAAAAGTACTGGTCCACGGTTTTGAGCCAGCCCACGTCATCATGTGTGTGAGGCAGCAGGTGCACGTTCAGCATGTTCGGCTGCACTGTGGGGCATGTCTGCACAGGGACCCCAAACACACATACCTTGTCAATAACCCCCGAGGTCGGGGGCTGCAGAGTAAGTCTTGATCTAGAGGTGAGTGACTCAGAGAGGCCTGATCTCGCCTATGTGCAGAGGAGGCCAGGCCCTCCCAGGCAGGACACACACATACATAGTTGTGCTCATAGATACAACTCCACTTTGCACAACCCCACAGGGCAGCTCTCATTCACACTCCGGGAAAATAATAATAGAAGTAGCTGATGTTTGTTCAGCATTTGCCGACAGCAGACGGCCACCGTGGGAGGTGGGGTGATGTTATCCCCAGTTTCCAGATGAAGGCACTGAGGCTTAGAGAGGATAGGTGACTTGCCCAACGTCACACACTCAGGAAGTGTAAGAGCTAGGCTGGAATTTCAGGCAGACTCCAGAGTCCCAGCTCTCAGCCAGCACCTCCCCCCACACATACACTGCTCACCCCCTGCCACCTCCTGCCCCTCCAATCCCACAGTTAAGTGCAGACAAAGTCTAGGCAAGCATCCCGGAGACACGGAGGCAGGTACAATCAGACACAGTCCTATACTCAGATGCGCACAGCCAGACCTCGCAATGACACAAAGCACGCACTCAGACCACACTGTCATATCATCAGCCATTCACTAGACACCCACAGGACAGACCCACCCACACCTCTAGACTGTATTCTGGGTTTCACTCTGCCTCCTGTACGTTTCAGCTCGGAGGCCCCACTCACCTCGTATCCCCCGGCCCGAGCACCGGCAGCCGCCAGCAACAAAAGGAAAAAGCAGAGAGGCGGGAGCGGTGGCCGCAGGGCGCGGGACATGGTCCAGGGGCCTGCTGAGTCCAGGCAGCCGCGAGCGCAGACCCCCGAAGCCCGCGCGTAGGCGCCCATGGCTCAGCAGCTTCCTCCTGGGGTTCCCCGGCCCTGGAAAGGCCGGGCAAACGCCCCGCCCCCAGACCCGGCCGGGCCAATCGGGGTGGGGGGCGGGGCCAGGGCGCGGTCTGGAGGCTCACGGGAGAGAGGCTGTAGCCCTGGGCAATCCCGGGGGTCGTTACAGGAAGGTAGGAAAATGCCACCCTCAGGGCACTGGTTGGGCTAAAGGTGACACTGGCGTCTCACGGGCTATGAAGACGGAATGCCTCTTAATGCCGGAATTCCAAGACGGAATGCCTCTTAATGCCGGTAGGAGCAGAAGTGCTTTTCCTAAGGGGGCCGGGTTTTCCTAGCCGGTGTAGTGTGTCCATGGGAATCCAGGGTGTCCGTCCCATGGACCTTCAGCGCTAGGGTCCTGGAAGGACCTAGCTTGCCTAAGAGGAGGATCTGATGAAGAGTCCTATACTGTGGGGATTGGGACGTTGGGTAAATACCCCTGGAGTACCAGGGATGGGATCCAGCCTGGTTGAGAAGGATCCCTGGGTGTTCCGGAGAGAAAAGAGGGTCTGACAAGTGGGGAAGGACCCCGAGTCTTTCATGCCTTTCCCAATTCCTACCAGTTCATTCTCTGATAAGAAAACAAAGCCCAGGGCAGGCGCAGTGGCTCAAGCCTGCAATCCCAGCACTTTGGGAGGGCCAGGCTGGTGAATCACTTGGGCCTGGGAGTTTGAGACCAGCCTGGGCAACATGGGTTGTTTTGTAGAGACGGGTTTGAAAACACAAAATTTGTAATTTTACACAAAATGTAAAAATACAAAAATTAGCTGGGCATGGTGGCACATGC 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CTTGGCGGGTTGTAACCATTGGGAAGCACACCTGCAGGTCACACCAAGTTCAAGGGGTGGCCCATCACCCAGACCTTCCCTGGTTTCAAAGCCGGCCATGTCCCACCCAGGATGGGCTTCAGAATTTGTGTCCCAATGCAAAAGGAAATGCAGGGCCTTTGTTCCCAGACTATAGGAATTCCAGGACAGTGACAACAGAGCAGATATCAAGCCCAGGGCCCTTCTGAGTGTGTGGCACCATGGCTGGCCCTGCCCTCACCAAGCCCCCTACCAGTGAAGAGGTCCGCGGTCGGGGGCTTCAGGCTGGTGCTGGCCCGCCACACCTGCTCCATCTCCAGCTTCTGCATCCGTACCCACTTATCTTGATAATCAAGGCGCCCAAAGAAGAAGCCGTCGAAGCCCATCTGGGGATGAGGGAGGAAAAGGCAGTGTGAATTAGTGCCCAGCCCTCTCACCACCAAACTCCCCTCTGCTTGGGAGGGGCAGGTCAGAGCACAGGTTAAAAAGCAGTGCTAGGTCGATGTGGTGGCTCTTGCCTATGATCCCAGCCTTCTGGGAGGCCAAAACAGGAGGATCACTTAAACCCAGGAGTTTTTGAGACCAGCCTGCACAACACGGGCAGACTGTCTACAAAAAATTTAAAAATTAGCCAGGCGTAGTGGTGCGCTCTTGTAGTCTCATCTACTAGGGGGGCTGAGACAGGAGAATCGCTTGAATCCGGGAGATTGAGGCTATAGTGAGTTAGGATTGCACCACTGCACTCCAGCCTGGATGACAGCAAGACCCTGTCTCAAAAAACAAAAACAAAAACACGTAGGGCTGAAACAGAGAGGCCTCCAGCTTATTTCCAAGCTTGGGGAAGTTTCAGAACTCACCACCTTGGGCTAGCAGGGAGAGGGCGGGTCCAACATCAGAACCCAGGTTCACCTCCCCAGCACTGTCAAAGCGCAGAGCAGGCCTGACTCCAGGAATGAGGTTCCCCCTTCCACAGCCTGAGGATGGATGGGGTCTGAGCACAGGTAATGAACCTGTTTTTAAGGCAGCCTAGGCATCCACTTGCCACCCGGTTTAGGGAGGAGCCAGGACCCGAGCTAGTGGGTGGGGCCAGAACACCAAGAGGGGCCTATTAGGGGAGAGGGCGGAGCCAGCCGGAGCTGGGTCAGCCTGGGCTGGGCATAGCCGGCTGAGGCCAGAGCTCAAAAGCCACTGGCTTTACGGCTCACTCAAGGGGCAGGGCTTCAACAGGCCTAGGCCTGGGCCTGGTCCTTGTGAGATTGCAGGGAGAGGGCGGGGTTTGACTGGGCGAGGGAGGAGCCAGAGTGAGTGAAGAAGTGGGCCCAAGAGAGGTCCCGGGTCGCACCTGCGCAAACAGCGAGGCCTGCTCCCGAGAGTGGCCGAAGGGGTCAATGTGCCAGGCCACACGGGGTCGCCCATCATTGCCAAATGTGTCCTCCAGAAAGCGCAGCCCAAGTGTCATCTGGTCCACGATGGCACCGTAGTGGGTGGCTGCCTCATCGTTCATCACCCAGCCACCATTGGCGAACTCCAGGCGCCCTGTGCCAGGACAGGCAAGGTCAGGGTCAGCGGTCAGAGCCAGGAGTGGGAGTAGGGTGGGTGATACTGGGAATGTGAAAGCCTGCCTGTGTACACATTTCTGGCGGAAGGACAAGAGGGGTCGCTCCCAGGCCATAGTTCCCAGATATGGGAAAGAGGCCCCCTGCATGGCAGGCTTCCCAGAGGATGCACAGCAGGTGGGGCTTTGTGGGATGTATAGGAGGTCTCCAAATGGAGAGTCCAGGCAGGCGGAGCGACACGCATGTTATACAGCTTGCACGTGGCATGACAAATCTCAGAAACCAGAGATGCAGAAGCAGAAGCTGGGCTGGGCTTCCTCTTTTCACTTCCTTGGGGTAGGCTCACCCTGGCGCACAAGGTCTCGCACGACTTCCTGTGTGGCATTTGTCTGCTGGTGCCACCAACGGGAGAAGAAGGCAATCTCCACGTAAATGAAGCGACGGGTGGGATCTGCCAGCAAGGCAGAGATGACCAAGTCCAGGATGTACTGCACACCGGCGTGCTGGATGTCATTCTTGACTGTGGATAACAGGGATAAGGCTCTCAGGGAACAGCAGAGCCAAGGGGGTTATTCCTAGACAGAGGAGCCCAAACCCTGGATATTAGGGTAGCACTGGCCCCACCCTAATGTCCAGGACCCAGAGGGATTACAGGGACCATGGGGATCCCAGGGACCAGTCCCCATCCTCTACTCACTTCCATAAAAGTACTGGTCCACGGTTTTGAGCCAGCCCACGTCATCATGTGTGTGAGGCAGCAGGTGCACGTTCAGCATGTTCGGCTGCACTGTGGGGCATGTCTGCACAGGGACCCCAAACACACATACCTTGTCAATAACCCCCGAGGTCGGGGGCTGCAGAGTAAGTCTTGATCTAGAGGTGAGTGACTCAGAGAGGCCTGATCTCGCCTATGTGCAGAGGAGGCCAGGCCCTCCCAGGCAGGACACACACATACATAGTTGTGCTCATAGATACAACTCCACTTTGCACAACCCCACAGGGCAGCTCTCATTCACACTCCGGGAAAATAATAATAGAAGTAGCTGATGTTTGTTCAGCATTTGCCGACAGCAGACGGCCACCGTGGGAGGTGGGGTGATGTTATCCCCAGTTTCCAGATGAAGGCACTGAGGCTTAGAGAGGATAGGTGACTTGCCCAACGTCACACACTCAGGAAGTGTAAGAGCTAGGCTGGAATTTCAGGCAGACTCCAGAGTCCCAGCTCTCAGCCAGCACCTCCCCCCACACATACACTGCTCACCCCCTGCCACCTCCTGCCCCTCCAATCCCACAGTTAAGTGCAGACAAAGTCTAGGCAAGCATCCCGGAGACACGGAGGCAGGTACAATCAGACACAGTCCTATACTCAGATGCGCACAGCCAGACCTCGCAATGACACAAAGCACGCACTCAGACCACACTGTCATATCATCAGCCATTCACTAGACACCCACAGGACAGACCCACCCACACCTCTAGACTGTATTCTGGGTTTCACTCTGCCTCCTGTACGTTTCAGCTCGGAGGCCCCACTCACCTCGTATCCCCCGGCCCGAGCACCGGCAGCCGCCAGCAACAAAAGGAAAAAGCAGAGAGGCGGGAGCGGTGGCCGCAGGGCGCGGGACATGGTCCAGGGGCCTGCTGAGTCCAGGCAGCCGCGAGCGCAGACCCCCGAAGCCCGCGCGTAGGCGCCCATGGCTCAGCAGCTTCCTCCTGGGGTTCCCCGGCCCTGGAAAGGCCGGGCAAACGCCCCGCCCCCAGACCCGGCCGGGCCAATCGGGGTGGGGGGCGGGGCCAGGGCGCGGTCTGGAGGCTCACGGGAGAGAGGCTGTAGCCCTGGGCAATCCCGGGGGTCGTTACAGGAAGGTAGGAAAATGCCACCCTCAGGGCACTGGTTGGGCTAAAGGTGACACTGGCGTCTCACGGGCTATGAAGACGGAATGCCTCTTAATGCCGGAATTCCAAGACGGAATGCCTCTTAATGCCGGTAGGAGCAGAAGTGCTTTTCCTAAGGGGGCCGGGTTTTCCTAGCCGGTGTAGTGTGTCCATGGGAATCCAGGGTGTCCGTCCCATGGACCTTCAGCGCTAGGGTCCTGGAAGGACCTAGCTTGCCTAAGAGGAGGATCTGATGAAGAGTCCTATACTGTGGGGATTGGGACGTTGGGTAAATACCCCTGGAGTACCAGGGATGGGATCCAGCCTGGTTGAGAAGGATCCCTGGGTGTTCCGGAGAGAAAAGAGGGTCTGACAAGTGGGGAAGGACCCCGAGTCTTTCATGCCTTTCCCAATTCCTACCAGTTCATTCTCTGATAAGAAAACAAAGCCCAGGGCAGGCGCAGTGGCTCAAGCCTGCAATCCCAGCACTTTGGGAGGGCCAGGCTGGTGAATCACTTGGGCCTGGGAGTTTGAGACCAGCCTGGGCAACATGGGTTGTTTTGTAGAGACGGGTTTGAAAACACAAAATTTGTAATTTTACACAAAATGTAAAAATACAAAAATTAGCTGGGCATGGTGGCACATGC 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Task1_train_26558 | A mutation found in TNPO2 (transportin 2) on Chromosome 19 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | CAACATGGCAAAACCCTGTCTTTACTAAAAATACAATAAAATTAGCCAGGCATAGTGGGACACGCCTGTAGTCCCAGCTTCTTGAGAGGCTAAGGCAGGAGAACTGCTTGAACCCTGGAGGTGAAGGTTGCAGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAACAGGTGGGGGGCGGTGGGGGGGGCATAGTGTTTGCATATGCACCTATGCACATTCTCCTGTACACTTAGCATCATCTCTAAATCACTTATATCTAATACAATGTCAACAGTATGGGAATAGTTGTTATACTGTATTGTTTAGGGAATAATAACAAGAACAAACTTCTGTATGCGTTCAGTACAGATGTAATTTTTCCTCTGAGTATTTTCAATCTGAGGTTACTTGAATCTTGGGATGTAGAACCCACAGATACAGAGAGCCAACTGTGCTGGGGCAGGGACTTGGGCTTTCACATTTTCTATTTTCTTTTCTTTCTTTTTTTTTGAAGACAGAGTCTCAGTTTATTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGGCGCCTACCACCATGCCTGGCTAATTTTTGTATTTTTCGTAGAGACAGGATTTCACCGTGTTGGCCAAGCTGCTCTCAAACTCCTGACCTCAAGTGATTCACCTGCCACAGCCTCCCAAAGTGCTGGATTATAGGCGTGAGCACCTGGCCTCACATTTTCTATTTTCAATACTGTTTGCTTTAAAAAAAATTTTTTTTTTTAATTTTAGAACTGGGGTTTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTGCCTCGGCCTCCAGGATTACTCTTTAAAATAATTAGAACAGCACCTTTTCCCTGATTTCCTTTGGGCACAACCAGGCCCTGACTCCCCACCAGGGGCAGCCCACGCAGGCTGCTGGGTGTCATCACTGTCCAGGGTCCCCACCCACCTGCATGCACTGGAACAGCAATGTCATGATGTTGCTGCGGGCCACCAGCTGCTCCACGTGACCACCCAGGCCCTCGGCCAGGCCGCTGAGCAGATCCAGTGCTACGATCATGAAGTCCTTGTCGGGAGCCTCATACTGCTCAGGGTGCTGGGTGTACATCTAGACACAGATGCCGACAGGGGCACGGGTAAGTGGAGCAGGCCCGAGGCAGGCCAATGCAGAAGCACAGGTGACGGGCCTAGGGTTGCTCACCATGGCCTGAGCCAGTGTCTTCTGCACCAGGGTGACACAGCGCTGGTAGACGGGCTCACAGTAAGGCAGGAAGCCACTCTGCAGGGCGGTGGCCACCGATGACAGACACTGGCAGGGAGGAAGGCAGGTGGGGAGAACTCAGGCAGGGTGGGCAGGATGGGTTTCGGGTGAGGGGCAGGAGCCCACTCACCTCCAGCAGGGGGAAGAGGTCCTTGTCTTCGTCCTTGAGCTCATTCCACTTCTGGATCAGTGGGGGCATCAGCTTCTGGATGTATTCCTGGAGAGGGAGCACGAAATGGGCGCTCCCTGGGTCGGGGTGGCAGACTGTGACTCAGGTACCTGTTGCCCGAGTGATGAGGCCTGAGCGCCTCACCGTGGCTCATGGGACCCTGAAAGGCCTGCCATCTGGCCAGACCTCGAGGCCTTCATTCTTCTCACCTGTCCAAGCACCGCCCGCCCCACCCCACCCCCCGGGAGCCTGGGTTACCACCTCCTGGTTCCCGAAGCACAGCACTTACCACGCTGTCTCATAACTGTCTTTCTCCCCCACTAGACTGGGAGCAGGGCGAGGGCGGGGCCGGGTCTGTCTGTCTGCCTGTCGAGGTCACGGCCACGTCCCTGGCGTGCAACACGGGGTTGCCACCAGGTCACTGGATGCCCAGGGGCACGGGGATCGGGAGGCGGGAGCCGCTCTGGGGTCTCACCGGCTGGTTGAGGTGGTGGCCTACAGAGTCGGCCAGGGTGCCAATGGCGTCATAGAGGATGAGCAGGTTCTTGTGCTGGTATTTCCCAAAGGCAAAGACAAGGGTGTCCAGGATGTAGCTGAGGTAGGGCACCAGCTCCGTGCAGGCCTCTTCCTCCAGGGTGGCAAAAGCACTGGTGGGAGGGAGGATGAAGCGGGGGCTCAGTGGACCATGGCAGGTGACACTGGGCCATGGGCAGTTGGGGAGGGCAACTCAGGATCAGCCAGTACGAATACGCGATAAATCAGTTCCACATCAACAGTCACAGGTGTCATCACTTCCCAGAGGGTGGCCGGGGGAGAGTGGGGGCTGTGGGATCAGGGGTCCAGGGTCACCTGCAGGCCGCCTCCTGTACCCTCTTGTTGCCATCCAGGATGCGTTTGAGCAGCTCTGTCATCAGGGGCTTGAGGTGCATGTCGGGTGGCTGGCTGACCACCCAGTGGGCATAGCGGCTCAGCGTCCAGCAGGCGATGGAGCGGACCAAGGCCTTCTTATCCGACAGGCACTGGATCAGGTGCGGGATCAGCTCAGGCAGGTAGGGCACCATGCCCTGCATGCAGCCTACAAGGAAAGGGAACCAAGAGGGGGCAGTTTGATTGGGCCCAGCCACACCCACCGTATGGAGAGAAGAGTCAGCCGCACACAACATATAGGGAAACTGAGGCTTAGAGTTTAAATCACTGGCCCAGACTCATTTCACAGAGCCAGGTAAAGGCAGGCACAGGAGGGGAAACAACAGAAGCCTCTCATCCCAAAGCCCCGGGTTATCTTTATTTTTTTTTGAGGCAGAGTCTCGCTCTGTCGCCCAGGCTGGGGCGCAGTGGTACGATCATGGCTCACCGCAACCTTCACCTCCTGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCCTCTGCCACAATGCCCGGGGAATTTTTTATATTTTCAGTAGAGACAGGGTTTTACCATGTTGACCAAGATGGTCTCAGTCTCCTGACCTCGTGATCCACCCGCCCTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAAGAGCTCCGTGTTATTGCGTTAATTCAATTCATGCATTAATTCATGTGTTAATTGAATTCATGTGTTAATTCAAAATTGGCTCCGTTACATAGTGAGTGGGGTTTTATGGGGCAGCAGTGACCCAAATGGAATAAAAGCACTTTGCATTTGAAACAGTTCTTAAGATGTTTGTGAGTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTAGAGTGCAGTGGTGTGATCTGGGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGTGATTTCCTGCCTAAGCCTCCCAAGTAGCTGGGACTGCAGGCGCCCGCCACCATACCCAACTAATTTTTATATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCTAGACTGGTCTTAAAATCCCGACCTCACGTGATCCCACCTCAGCCTCCCAGAGTGCTGCGATTATAGGTGTCTGGCCGTTTATGATTGTTCTATTTCTCCTTATTTTTGTTTAATTTTTTAATTTATTATTATTATTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAAGCTGAAGTACAGTTGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCTGATTCAAGCAATTTTCCTGCCTCAACCTCCCCAGTAGCTGGGACTACAGGCGTGGGCCACCACGTGTGGCTAATTTTTCATATTTTTAGCAGAGACGAAGTTTCACCGTGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCAGTTGATTCAACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCATTTTTAACAATTTTTTAATGTTTTCTTTGAGACAGAGTCTCGCTCTGTCCCCCAAGGAGGAGTGCAGTGGTGTGATCTCCACTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTGTCGTGCCTCAGCCTCCCAATAGCTAGGACTACAG 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CAACATGGCAAAACCCTGTCTTTACTAAAAATACAATAAAATTAGCCAGGCATAGTGGGACACGCCTGTAGTCCCAGCTTCTTGAGAGGCTAAGGCAGGAGAACTGCTTGAACCCTGGAGGTGAAGGTTGCAGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAACAGGTGGGGGGCGGTGGGGGGGGCATAGTGTTTGCATATGCACCTATGCACATTCTCCTGTACACTTAGCATCATCTCTAAATCACTTATATCTAATACAATGTCAACAGTATGGGAATAGTTGTTATACTGTATTGTTTAGGGAATAATAACAAGAACAAACTTCTGTATGCGTTCAGTACAGATGTAATTTTTCCTCTGAGTATTTTCAATCTGAGGTTACTTGAATCTTGGGATGTAGAACCCACAGATACAGAGAGCCAACTGTGCTGGGGCAGGGACTTGGGCTTTCACATTTTCTATTTTCTTTTCTTTCTTTTTTTTTGAAGACAGAGTCTCAGTTTATTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGGCGCCTACCACCATGCCTGGCTAATTTTTGTATTTTTCGTAGAGACAGGATTTCACCGTGTTGGCCAAGCTGCTCTCAAACTCCTGACCTCAAGTGATTCACCTGCCACAGCCTCCCAAAGTGCTGGATTATAGGCGTGAGCACCTGGCCTCACATTTTCTATTTTCAATACTGTTTGCTTTAAAAAAAATTTTTTTTTTTAATTTTAGAACTGGGGTTTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTGCCTCGGCCTCCAGGATTACTCTTTAAAATAATTAGAACAGCACCTTTTCCCTGATTTCCTTTGGGCACAACCAGGCCCTGACTCCCCACCAGGGGCAGCCCACGCAGGCTGCTGGGTGTCATCACTGTCCAGGGTCCCCACCCACCTGCATGCACTGGAACAGCAATGTCATGATGTTGCTGCGGGCCACCAGCTGCTCCACGTGACCACCCAGGCCCTCGGCCAGGCCGCTGAGCAGATCCAGTGCTACGATCATGAAGTCCTTGTCGGGAGCCTCATACTGCTCAGGGTGCTGGGTGTACATCTAGACACAGATGCCGACAGGGGCACGGGTAAGTGGAGCAGGCCCGAGGCAGGCCAATGCAGAAGCACAGGTGACGGGCCTAGGGTTGCTCACCATGGCCTGAGCCAGTGTCTTCTGCACCAGGGTGACACAGCGCTGGTAGACGGGCTCACAGTAAGGCAGGAAGCCACTCTGCAGGGCGGTGGCCACCGATGACAGACACTGGCAGGGAGGAAGGCAGGTGGGGAGAACTCAGGCAGGGTGGGCAGGATGGGTTTCGGGTGAGGGGCAGGAGCCCACTCACCTCCAGCAGGGGGAAGAGGTCCTTGTCTTCGTCCTTGAGCTCATTCCACTTCTGGATCAGTGGGGGCATCAGCTTCTGGATGTATTCCTGGAGAGGGAGCACGAAATGGGCGCTCCCTGGGTCGGGGTGGCAGACTGTGACTCAGGTACCTGTTGCCCGAGTGATGAGGCCTGAGCGCCTCACCGTGGCTCATGGGACCCTGAAAGGCCTGCCATCTGGCCAGACCTCGAGGCCTTCATTCTTCTCACCTGTCCAAGCACCGCCCGCCCCACCCCACCCCCCGGGAGCCTGGGTTACCACCTCCTGGTTCCCGAAGCACAGCACTTACCACGCTGTCTCATAACTGTCTTTCTCCCCCACTAGACTGGGAGCAGGGCGAGGGCGGGGCCGGGTCTGTCTGTCTGCCTGTCGAGGTCACGGCCACGTCCCTGGCGTGCAACACGGGGTTGCCACCAGGTCACTGGATGCCCAGGGGCACGGGGATCGGGAGGCGGGAGCCGCTCTGGGGTCTCACCGGCTGGTTGAGGTGGTGGCCTACAGAGTCGACCAGGGTGCCAATGGCGTCATAGAGGATGAGCAGGTTCTTGTGCTGGTATTTCCCAAAGGCAAAGACAAGGGTGTCCAGGATGTAGCTGAGGTAGGGCACCAGCTCCGTGCAGGCCTCTTCCTCCAGGGTGGCAAAAGCACTGGTGGGAGGGAGGATGAAGCGGGGGCTCAGTGGACCATGGCAGGTGACACTGGGCCATGGGCAGTTGGGGAGGGCAACTCAGGATCAGCCAGTACGAATACGCGATAAATCAGTTCCACATCAACAGTCACAGGTGTCATCACTTCCCAGAGGGTGGCCGGGGGAGAGTGGGGGCTGTGGGATCAGGGGTCCAGGGTCACCTGCAGGCCGCCTCCTGTACCCTCTTGTTGCCATCCAGGATGCGTTTGAGCAGCTCTGTCATCAGGGGCTTGAGGTGCATGTCGGGTGGCTGGCTGACCACCCAGTGGGCATAGCGGCTCAGCGTCCAGCAGGCGATGGAGCGGACCAAGGCCTTCTTATCCGACAGGCACTGGATCAGGTGCGGGATCAGCTCAGGCAGGTAGGGCACCATGCCCTGCATGCAGCCTACAAGGAAAGGGAACCAAGAGGGGGCAGTTTGATTGGGCCCAGCCACACCCACCGTATGGAGAGAAGAGTCAGCCGCACACAACATATAGGGAAACTGAGGCTTAGAGTTTAAATCACTGGCCCAGACTCATTTCACAGAGCCAGGTAAAGGCAGGCACAGGAGGGGAAACAACAGAAGCCTCTCATCCCAAAGCCCCGGGTTATCTTTATTTTTTTTTGAGGCAGAGTCTCGCTCTGTCGCCCAGGCTGGGGCGCAGTGGTACGATCATGGCTCACCGCAACCTTCACCTCCTGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCCTCTGCCACAATGCCCGGGGAATTTTTTATATTTTCAGTAGAGACAGGGTTTTACCATGTTGACCAAGATGGTCTCAGTCTCCTGACCTCGTGATCCACCCGCCCTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAAGAGCTCCGTGTTATTGCGTTAATTCAATTCATGCATTAATTCATGTGTTAATTGAATTCATGTGTTAATTCAAAATTGGCTCCGTTACATAGTGAGTGGGGTTTTATGGGGCAGCAGTGACCCAAATGGAATAAAAGCACTTTGCATTTGAAACAGTTCTTAAGATGTTTGTGAGTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTAGAGTGCAGTGGTGTGATCTGGGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGTGATTTCCTGCCTAAGCCTCCCAAGTAGCTGGGACTGCAGGCGCCCGCCACCATACCCAACTAATTTTTATATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCTAGACTGGTCTTAAAATCCCGACCTCACGTGATCCCACCTCAGCCTCCCAGAGTGCTGCGATTATAGGTGTCTGGCCGTTTATGATTGTTCTATTTCTCCTTATTTTTGTTTAATTTTTTAATTTATTATTATTATTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAAGCTGAAGTACAGTTGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCTGATTCAAGCAATTTTCCTGCCTCAACCTCCCCAGTAGCTGGGACTACAGGCGTGGGCCACCACGTGTGGCTAATTTTTCATATTTTTAGCAGAGACGAAGTTTCACCGTGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCAGTTGATTCAACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCATTTTTAACAATTTTTTAATGTTTTCTTTGAGACAGAGTCTCGCTCTGTCCCCCAAGGAGGAGTGCAGTGGTGTGATCTCCACTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTGTCGTGCCTCAGCCTCCCAATAGCTAGGACTACAG 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Task1_train_26559 | Given a variant located on Chromosome 19 and affecting TNPO2 (transportin 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | AGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACCCCAGCCTGGCGAGAAAGCAAGACTCAGTCTCAAATAAATAAATAAATAACACAGCTTATGTAATCTATTAACATATGTAAGCGTATTGTGTGATATATACCCTATTAACATGAGATATGAGATACATTAAACACATATTACATGTCGAAACATTTCTTTAGACAATTTTTTTTTGAGACAGGGTCTCAGTCTGTTCTCCATGCTGGAACGCAGTGGCGCAATCATGGCTCACTGCAGCCTTGACCTCTCACCTCAGCCTCCCAGTTAGTTGGGACTATAGGCACTTACCACCACGCCGGCTAATTTTATCAGGTTTTTTTTTTTTTTTTTTTTGGTAGATATGAGGTCTCACTATATTGCCCAGGCTGGTCTTGAACACCTGGGCTCAAACGATCTGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACACCTGGCCTTTTTAAAAAATTTTTTGTAGAAAGAGGGTTTCCCTATGTTGCCCAGGCTGGTCTCGGACTCCTGGGCTAAAGCAGTTGTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACAGTAACTAGACAAATTTTAGACAAATTTTGAAAGCTTACAAGGTTGAGGGTTTTTGCTGCCATGCCTGAAATTTTTGGCACAGGTCTGGATGCTGAGGCAATGGTATATGATGCCTCCAACGGACTCACAAAGCCCTCCTGTAACAAGTTTTATGTCCCACCGGGACCATGGGAGCCTGAAAACCCCACCGATTACAGAACACCAGGTTGAATTTGATGAAACACCACCTACCACGGGTTACTACTGACTCTGGCAGGCCAGCCCGGCAGCCAGGAACAGGTTTAAGGCCCAGACACACCCTGAGTGACTGTAAGGAAGTGGCATCAATCTTTCTGTACCTCAGTTTCCCCATCTTCGAAACTGGGATCCGGCACCCAGCTCATCAGGTGGTGGTGAGGGCCAAGGATGTTTGTCTACATAAGTGCACGAGGCAAGCATGCAGCTGTGCCTGCTGTTATTATCATTGTTGCTGTAATTATGCTTACAACATGAAAGAACTACCTGCCTGCAAGAATGAACAAGAGGCCTTGCACTGTGGGGCTCCAGGGGTTCCTTTCAGGCCCAGGAACCAAGGGGAGAATTGAGATCTCAGAGCTGTTTGGAGTGGGGTGAGTAGGCCTCCAGGGAGAACTGAGGCATTGGTGTGGCTAGTAATGTGGGCCAGCCCTACAGTCTCATGCCAGCACAGGGCTCAGAGATCAGGCGCACTCACCCTCAGCAATGGCGCCCAGCACCAGGATGCCCGACTCCTTGACCACCCACTCGGGGTGGAAGAGGAGGCCTTTGAGTAGTGGGAGTAGGTGGGGCAGCAGTTCCTCCCGGAAGACATTGGCGAGGACGTCCAGTGCAGCCGCTGAGCACTTCCCTGGGGAAGGGGGAACAATGGGGAGGCTCAGGGCGGCCCCTCAGGCAGGTGGCCGACCCTCCTTGACTGCACTCCCAGGATCAGAGATCATGCTCAGAATCTTCACGATCAGCTTCTTTTTTTTTGTTTTGTTTTTTTGAGACGGAGTCTCACTTTTTCCGCCCAGGCCGGAGTGCAGTGGCGCTATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCATGCCGTTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGACACCACGCCCGACTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTGTTGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTTCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGCGCCCGGCCACGATCAGCTTCTAATCAGCTTCTGCCTCAGCTTCTAGTCACCTCCCAAGAGGGAGTCCAGGGCTTGCCACCCCACCACCACCCCCAGGCAGGGGCACACACTCAAATTCCAGTCGGACAGAGCATCATCATCATCGTCATCCTCCGCGTCCTCGGAGCCATCAGGCCGCTCAGCCTCGTGGGGCAGTGTGACCGTGCGTGACTTGTGGAAGCGTGGCTTGATGTCCTGCTCACTGTCGGGGACAGCCTCATCCTCCTCCACATCCCCCTGGGGGACAGGCAGACTGTTAAGTACTTTGGGGACCACAGCCGCGACACCCACGCCCATGCCCACCCATGCTGGGTGGGCCCTGCCTGACCTTGAGCAGGATGATGTCAATTTCCGAGTACTTCATCCCATTCACCAAGATGGGGATCAACCTGCACAGAGAGGGACTGTTTATGGGGATGCAGGGGCCGTGGCAAAAGTTGGGGGGAGGCACAGCTTGGGGAGGAGGCAAACAGGTGCCAACAGAGTGACCAGCCCCCCAATCAGCCACAGAGCAGACCCTGCAGAGCATGATGGTACTGCTAGGTGCAAATTGATCCATTTCCCTCTGGGGAATTATCGGAATCTAGTCTCTGCCGCTATGATTAGGATATAAATGATACCACTCCTGCCTCCAGAGAAAGGTTTTTTTTTTTTTTTCTTAAGAAGCAGGGTCTAACCCTGTGGGCGGCAAGCCACCCAGGCACCGAGGCAAGAGACAGAGGACACGAGCTGTTCCAGTATAATAAAATATAAAACAAGAATAGTTATACCAGATATAGATCTTAGATATGATTATATATGAATATCATTAATCATTAGTTTGTAGCAATTACTTTTTATTCCAATATTATGATAATCCTCGCTCTATAATCATAGCCTAGGAAAAACCAGGCCATACAGAGATAGGAGCTGAGGGGACATAGTGAGGTGTGACCAGAAGACAAGAGTGCGAGCCTTCTGTTATGCCCGGACAGGGCCACCAGAGGGCTCCTTGGTCTAGCGGTGACGCCAGCATCTGGGAAGACGCCCGTTACCAGGCGGATCATGGTCCAGCGGTAGCAAAAGGTGTCAAGGAACAACACCCGCTACTTAGCAGACCAGGAAAGTGGGGGAGTCTCCCTTTCCCCGGGGGAGTTTAGAGAAGACTCTGCTCCTCCACCTCTTGTGGAGGGCCTGACATCAGTCAGGTTTGCCCGCAGTTATCCGGAGGCCTAACCGTCTCCCTGAGATGCTGTGCTTCAGTGGTCACACTCCTAGTCTGCCTTCATGTTCCATCCTGTACACCTGGCTCTGCCTTCCAGATAGCAGTAGTAAATTAGTGAAAATACTAATAGTCCCTGATATGCAGAAATAATGGCATACGCTGTCTTTCTCTTTGTCTACTCTCCCTCTCTGCCTCGGCTGCCAGGCAGGGAAGGGCCCCCTGTCCAGTGGACACGTGACCCATGTGACCTTACCTATCATTGGAGGTGACTCACATTCTTTACCCTGCCCCTTCTGCCTTGTATGCAATAAATAACAGCGCAGCCAGACATTTGGGGTCACTACCGGTCTCCGCGCATTGGTGGTAGTGGTCCCCCGGGCCCAGCTGCCTTTTCTATTATCTCTTTGTCTTGTGTCTTTATTTCTACACTCTCTCATCGCCGCACACAGGAAGAGACCCACCGACCCTGTGGGGCTGGTCCCTACGTAACCCTATCACCCAGGCTGGAGTGCACTGGTGCGATCACAGCTCACCACAGCCTCATGCTCCTGGGCTCATGCAATCCTCCTGCCTCAGCCTCCCAAAGTGCTAGGATTATAGGCGTGAGCCATGGCACTCAGCCTGCAGGAAAGCTCTTGACCCAGGCCTGGCCACTCAGTGGATTATAGACCCCTGAATACACTGAAAATCTTGGTACAGTGCCTGGTCCCTAGCACAACATTAAGGCAGGGACATGCGGTCCTATTCCTGGCCACTTTCCTGAGATAGGGCAGAGACTAGCCAGAGTAGGGGAGCAAACAGACTAGGCAGCCAGCCCCTCAGCTGCAGCCCAGAGTTGTAAGTGACAGAGCCTTCATCACCTGCTCATCTAGGTCTCATCACTCCCCAGGAGCCGTCTGCCCAGCCCTAGACTGTTATCAAT 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AGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACCCCAGCCTGGCGAGAAAGCAAGACTCAGTCTCAAATAAATAAATAAATAACACAGCTTATGTAATCTATTAACATATGTAAGCGTATTGTGTGATATATACCCTATTAACATGAGATATGAGATACATTAAACACATATTACATGTCGAAACATTTCTTTAGACAATTTTTTTTTGAGACAGGGTCTCAGTCTGTTCTCCATGCTGGAACGCAGTGGCGCAATCATGGCTCACTGCAGCCTTGACCTCTCACCTCAGCCTCCCAGTTAGTTGGGACTATAGGCACTTACCACCACGCCGGCTAATTTTATCAGGTTTTTTTTTTTTTTTTTTTTGGTAGATATGAGGTCTCACTATATTGCCCAGGCTGGTCTTGAACACCTGGGCTCAAACGATCTGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACACCTGGCCTTTTTAAAAAATTTTTTGTAGAAAGAGGGTTTCCCTATGTTGCCCAGGCTGGTCTCGGACTCCTGGGCTAAAGCAGTTGTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACAGTAACTAGACAAATTTTAGACAAATTTTGAAAGCTTACAAGGTTGAGGGTTTTTGCTGCCATGCCTGAAATTTTTGGCACAGGTCTGGATGCTGAGGCAATGGTATATGATGCCTCCAACGGACTCACAAAGCCCTCCTGTAACAAGTTTTATGTCCCACCGGGACCATGGGAGCCTGAAAACCCCACCGATTACAGAACACCAGGTTGAATTTGATGAAACACCACCTACCACGGGTTACTACTGACTCTGGCAGGCCAGCCCGGCAGCCAGGAACAGGTTTAAGGCCCAGACACACCCTGAGTGACTGTAAGGAAGTGGCATCAATCTTTCTGTACCTCAGTTTCCCCATCTTCGAAACTGGGATCCGGCACCCAGCTCATCAGGTGGTGGTGAGGGCCAAGGATGTTTGTCTACATAAGTGCACGAGGCAAGCATGCAGCTGTGCCTGCTGTTATTATCATTGTTGCTGTAATTATGCTTACAACATGAAAGAACTACCTGCCTGCAAGAATGAACAAGAGGCCTTGCACTGTGGGGCTCCAGGGGTTCCTTTCAGGCCCAGGAACCAAGGGGAGAATTGAGATCTCAGAGCTGTTTGGAGTGGGGTGAGTAGGCCTCCAGGGAGAACTGAGGCATTGGTGTGGCTAGTAATGTGGGCCAGCCCTACAGTCTCATGCCAGCACAGGGCTCAGAGATCAGGCGCACTCACCCTCAGCAATGGCGCCCAGCACCAGGATGCCCGACTCCTTGACCACCCACTCGGGGTGGAAGAGGAGGCCTTTGAGTAGTGGGAGTAGGTGGGGCAGCAGTTCCTCCCGGAAGACATTGGCGAGGACGTCCAGTGCAGCCGCTGAGCACTTCCCTGGGGAAGGGGGAACAATGGGGAGGCTCAGGGCGGCCCCTCAGGCAGGTGGCCGACCCTCCTTGACTGCACTCCCAGGATCAGAGATCATGCTCAGAATCTTCACGATCAGCTTCTTTTTTTTTGTTTTGTTTTTTTGAGACGGAGTCTCACTTTTTCCGCCCAGGCCGGAGTGCAGTGGCGCTATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCATGCCGTTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGACACCACGCCCGACTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTGTTGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTTCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGCGCCCGGCCACGATCAGCTTCTAATCAGCTTCTGCCTCAGCTTCTAGTCACCTCCCAAGAGGGAGTCCAGGGCTTGCCACCCCACCACCACCCCCAGGCAGGGGCACACACTCAAATTGCAGTCGGACAGAGCATCATCATCATCGTCATCCTCCGCGTCCTCGGAGCCATCAGGCCGCTCAGCCTCGTGGGGCAGTGTGACCGTGCGTGACTTGTGGAAGCGTGGCTTGATGTCCTGCTCACTGTCGGGGACAGCCTCATCCTCCTCCACATCCCCCTGGGGGACAGGCAGACTGTTAAGTACTTTGGGGACCACAGCCGCGACACCCACGCCCATGCCCACCCATGCTGGGTGGGCCCTGCCTGACCTTGAGCAGGATGATGTCAATTTCCGAGTACTTCATCCCATTCACCAAGATGGGGATCAACCTGCACAGAGAGGGACTGTTTATGGGGATGCAGGGGCCGTGGCAAAAGTTGGGGGGAGGCACAGCTTGGGGAGGAGGCAAACAGGTGCCAACAGAGTGACCAGCCCCCCAATCAGCCACAGAGCAGACCCTGCAGAGCATGATGGTACTGCTAGGTGCAAATTGATCCATTTCCCTCTGGGGAATTATCGGAATCTAGTCTCTGCCGCTATGATTAGGATATAAATGATACCACTCCTGCCTCCAGAGAAAGGTTTTTTTTTTTTTTTCTTAAGAAGCAGGGTCTAACCCTGTGGGCGGCAAGCCACCCAGGCACCGAGGCAAGAGACAGAGGACACGAGCTGTTCCAGTATAATAAAATATAAAACAAGAATAGTTATACCAGATATAGATCTTAGATATGATTATATATGAATATCATTAATCATTAGTTTGTAGCAATTACTTTTTATTCCAATATTATGATAATCCTCGCTCTATAATCATAGCCTAGGAAAAACCAGGCCATACAGAGATAGGAGCTGAGGGGACATAGTGAGGTGTGACCAGAAGACAAGAGTGCGAGCCTTCTGTTATGCCCGGACAGGGCCACCAGAGGGCTCCTTGGTCTAGCGGTGACGCCAGCATCTGGGAAGACGCCCGTTACCAGGCGGATCATGGTCCAGCGGTAGCAAAAGGTGTCAAGGAACAACACCCGCTACTTAGCAGACCAGGAAAGTGGGGGAGTCTCCCTTTCCCCGGGGGAGTTTAGAGAAGACTCTGCTCCTCCACCTCTTGTGGAGGGCCTGACATCAGTCAGGTTTGCCCGCAGTTATCCGGAGGCCTAACCGTCTCCCTGAGATGCTGTGCTTCAGTGGTCACACTCCTAGTCTGCCTTCATGTTCCATCCTGTACACCTGGCTCTGCCTTCCAGATAGCAGTAGTAAATTAGTGAAAATACTAATAGTCCCTGATATGCAGAAATAATGGCATACGCTGTCTTTCTCTTTGTCTACTCTCCCTCTCTGCCTCGGCTGCCAGGCAGGGAAGGGCCCCCTGTCCAGTGGACACGTGACCCATGTGACCTTACCTATCATTGGAGGTGACTCACATTCTTTACCCTGCCCCTTCTGCCTTGTATGCAATAAATAACAGCGCAGCCAGACATTTGGGGTCACTACCGGTCTCCGCGCATTGGTGGTAGTGGTCCCCCGGGCCCAGCTGCCTTTTCTATTATCTCTTTGTCTTGTGTCTTTATTTCTACACTCTCTCATCGCCGCACACAGGAAGAGACCCACCGACCCTGTGGGGCTGGTCCCTACGTAACCCTATCACCCAGGCTGGAGTGCACTGGTGCGATCACAGCTCACCACAGCCTCATGCTCCTGGGCTCATGCAATCCTCCTGCCTCAGCCTCCCAAAGTGCTAGGATTATAGGCGTGAGCCATGGCACTCAGCCTGCAGGAAAGCTCTTGACCCAGGCCTGGCCACTCAGTGGATTATAGACCCCTGAATACACTGAAAATCTTGGTACAGTGCCTGGTCCCTAGCACAACATTAAGGCAGGGACATGCGGTCCTATTCCTGGCCACTTTCCTGAGATAGGGCAGAGACTAGCCAGAGTAGGGGAGCAAACAGACTAGGCAGCCAGCCCCTCAGCTGCAGCCCAGAGTTGTAAGTGACAGAGCCTTCATCACCTGCTCATCTAGGTCTCATCACTCCCCAGGAGCCGTCTGCCCAGCCCTAGACTGTTATCAAT 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Task1_train_26560 | The gene TNPO2 (transportin 2) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | GAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACCCCAGCCTGGCGAGAAAGCAAGACTCAGTCTCAAATAAATAAATAAATAACACAGCTTATGTAATCTATTAACATATGTAAGCGTATTGTGTGATATATACCCTATTAACATGAGATATGAGATACATTAAACACATATTACATGTCGAAACATTTCTTTAGACAATTTTTTTTTGAGACAGGGTCTCAGTCTGTTCTCCATGCTGGAACGCAGTGGCGCAATCATGGCTCACTGCAGCCTTGACCTCTCACCTCAGCCTCCCAGTTAGTTGGGACTATAGGCACTTACCACCACGCCGGCTAATTTTATCAGGTTTTTTTTTTTTTTTTTTTTGGTAGATATGAGGTCTCACTATATTGCCCAGGCTGGTCTTGAACACCTGGGCTCAAACGATCTGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACACCTGGCCTTTTTAAAAAATTTTTTGTAGAAAGAGGGTTTCCCTATGTTGCCCAGGCTGGTCTCGGACTCCTGGGCTAAAGCAGTTGTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACAGTAACTAGACAAATTTTAGACAAATTTTGAAAGCTTACAAGGTTGAGGGTTTTTGCTGCCATGCCTGAAATTTTTGGCACAGGTCTGGATGCTGAGGCAATGGTATATGATGCCTCCAACGGACTCACAAAGCCCTCCTGTAACAAGTTTTATGTCCCACCGGGACCATGGGAGCCTGAAAACCCCACCGATTACAGAACACCAGGTTGAATTTGATGAAACACCACCTACCACGGGTTACTACTGACTCTGGCAGGCCAGCCCGGCAGCCAGGAACAGGTTTAAGGCCCAGACACACCCTGAGTGACTGTAAGGAAGTGGCATCAATCTTTCTGTACCTCAGTTTCCCCATCTTCGAAACTGGGATCCGGCACCCAGCTCATCAGGTGGTGGTGAGGGCCAAGGATGTTTGTCTACATAAGTGCACGAGGCAAGCATGCAGCTGTGCCTGCTGTTATTATCATTGTTGCTGTAATTATGCTTACAACATGAAAGAACTACCTGCCTGCAAGAATGAACAAGAGGCCTTGCACTGTGGGGCTCCAGGGGTTCCTTTCAGGCCCAGGAACCAAGGGGAGAATTGAGATCTCAGAGCTGTTTGGAGTGGGGTGAGTAGGCCTCCAGGGAGAACTGAGGCATTGGTGTGGCTAGTAATGTGGGCCAGCCCTACAGTCTCATGCCAGCACAGGGCTCAGAGATCAGGCGCACTCACCCTCAGCAATGGCGCCCAGCACCAGGATGCCCGACTCCTTGACCACCCACTCGGGGTGGAAGAGGAGGCCTTTGAGTAGTGGGAGTAGGTGGGGCAGCAGTTCCTCCCGGAAGACATTGGCGAGGACGTCCAGTGCAGCCGCTGAGCACTTCCCTGGGGAAGGGGGAACAATGGGGAGGCTCAGGGCGGCCCCTCAGGCAGGTGGCCGACCCTCCTTGACTGCACTCCCAGGATCAGAGATCATGCTCAGAATCTTCACGATCAGCTTCTTTTTTTTTGTTTTGTTTTTTTGAGACGGAGTCTCACTTTTTCCGCCCAGGCCGGAGTGCAGTGGCGCTATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCATGCCGTTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGACACCACGCCCGACTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTGTTGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTTCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGCGCCCGGCCACGATCAGCTTCTAATCAGCTTCTGCCTCAGCTTCTAGTCACCTCCCAAGAGGGAGTCCAGGGCTTGCCACCCCACCACCACCCCCAGGCAGGGGCACACACTCAAATTCCAGTCGGACAGAGCATCATCATCATCGTCATCCTCCGCGTCCTCGGAGCCATCAGGCCGCTCAGCCTCGTGGGGCAGTGTGACCGTGCGTGACTTGTGGAAGCGTGGCTTGATGTCCTGCTCACTGTCGGGGACAGCCTCATCCTCCTCCACATCCCCCTGGGGGACAGGCAGACTGTTAAGTACTTTGGGGACCACAGCCGCGACACCCACGCCCATGCCCACCCATGCTGGGTGGGCCCTGCCTGACCTTGAGCAGGATGATGTCAATTTCCGAGTACTTCATCCCATTCACCAAGATGGGGATCAACCTGCACAGAGAGGGACTGTTTATGGGGATGCAGGGGCCGTGGCAAAAGTTGGGGGGAGGCACAGCTTGGGGAGGAGGCAAACAGGTGCCAACAGAGTGACCAGCCCCCCAATCAGCCACAGAGCAGACCCTGCAGAGCATGATGGTACTGCTAGGTGCAAATTGATCCATTTCCCTCTGGGGAATTATCGGAATCTAGTCTCTGCCGCTATGATTAGGATATAAATGATACCACTCCTGCCTCCAGAGAAAGGTTTTTTTTTTTTTTTCTTAAGAAGCAGGGTCTAACCCTGTGGGCGGCAAGCCACCCAGGCACCGAGGCAAGAGACAGAGGACACGAGCTGTTCCAGTATAATAAAATATAAAACAAGAATAGTTATACCAGATATAGATCTTAGATATGATTATATATGAATATCATTAATCATTAGTTTGTAGCAATTACTTTTTATTCCAATATTATGATAATCCTCGCTCTATAATCATAGCCTAGGAAAAACCAGGCCATACAGAGATAGGAGCTGAGGGGACATAGTGAGGTGTGACCAGAAGACAAGAGTGCGAGCCTTCTGTTATGCCCGGACAGGGCCACCAGAGGGCTCCTTGGTCTAGCGGTGACGCCAGCATCTGGGAAGACGCCCGTTACCAGGCGGATCATGGTCCAGCGGTAGCAAAAGGTGTCAAGGAACAACACCCGCTACTTAGCAGACCAGGAAAGTGGGGGAGTCTCCCTTTCCCCGGGGGAGTTTAGAGAAGACTCTGCTCCTCCACCTCTTGTGGAGGGCCTGACATCAGTCAGGTTTGCCCGCAGTTATCCGGAGGCCTAACCGTCTCCCTGAGATGCTGTGCTTCAGTGGTCACACTCCTAGTCTGCCTTCATGTTCCATCCTGTACACCTGGCTCTGCCTTCCAGATAGCAGTAGTAAATTAGTGAAAATACTAATAGTCCCTGATATGCAGAAATAATGGCATACGCTGTCTTTCTCTTTGTCTACTCTCCCTCTCTGCCTCGGCTGCCAGGCAGGGAAGGGCCCCCTGTCCAGTGGACACGTGACCCATGTGACCTTACCTATCATTGGAGGTGACTCACATTCTTTACCCTGCCCCTTCTGCCTTGTATGCAATAAATAACAGCGCAGCCAGACATTTGGGGTCACTACCGGTCTCCGCGCATTGGTGGTAGTGGTCCCCCGGGCCCAGCTGCCTTTTCTATTATCTCTTTGTCTTGTGTCTTTATTTCTACACTCTCTCATCGCCGCACACAGGAAGAGACCCACCGACCCTGTGGGGCTGGTCCCTACGTAACCCTATCACCCAGGCTGGAGTGCACTGGTGCGATCACAGCTCACCACAGCCTCATGCTCCTGGGCTCATGCAATCCTCCTGCCTCAGCCTCCCAAAGTGCTAGGATTATAGGCGTGAGCCATGGCACTCAGCCTGCAGGAAAGCTCTTGACCCAGGCCTGGCCACTCAGTGGATTATAGACCCCTGAATACACTGAAAATCTTGGTACAGTGCCTGGTCCCTAGCACAACATTAAGGCAGGGACATGCGGTCCTATTCCTGGCCACTTTCCTGAGATAGGGCAGAGACTAGCCAGAGTAGGGGAGCAAACAGACTAGGCAGCCAGCCCCTCAGCTGCAGCCCAGAGTTGTAAGTGACAGAGCCTTCATCACCTGCTCATCTAGGTCTCATCACTCCCCAGGAGCCGTCTGCCCAGCCCTAGACTGTTATCAATAA 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GAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACCCCAGCCTGGCGAGAAAGCAAGACTCAGTCTCAAATAAATAAATAAATAACACAGCTTATGTAATCTATTAACATATGTAAGCGTATTGTGTGATATATACCCTATTAACATGAGATATGAGATACATTAAACACATATTACATGTCGAAACATTTCTTTAGACAATTTTTTTTTGAGACAGGGTCTCAGTCTGTTCTCCATGCTGGAACGCAGTGGCGCAATCATGGCTCACTGCAGCCTTGACCTCTCACCTCAGCCTCCCAGTTAGTTGGGACTATAGGCACTTACCACCACGCCGGCTAATTTTATCAGGTTTTTTTTTTTTTTTTTTTTGGTAGATATGAGGTCTCACTATATTGCCCAGGCTGGTCTTGAACACCTGGGCTCAAACGATCTGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACACCTGGCCTTTTTAAAAAATTTTTTGTAGAAAGAGGGTTTCCCTATGTTGCCCAGGCTGGTCTCGGACTCCTGGGCTAAAGCAGTTGTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACAGTAACTAGACAAATTTTAGACAAATTTTGAAAGCTTACAAGGTTGAGGGTTTTTGCTGCCATGCCTGAAATTTTTGGCACAGGTCTGGATGCTGAGGCAATGGTATATGATGCCTCCAACGGACTCACAAAGCCCTCCTGTAACAAGTTTTATGTCCCACCGGGACCATGGGAGCCTGAAAACCCCACCGATTACAGAACACCAGGTTGAATTTGATGAAACACCACCTACCACGGGTTACTACTGACTCTGGCAGGCCAGCCCGGCAGCCAGGAACAGGTTTAAGGCCCAGACACACCCTGAGTGACTGTAAGGAAGTGGCATCAATCTTTCTGTACCTCAGTTTCCCCATCTTCGAAACTGGGATCCGGCACCCAGCTCATCAGGTGGTGGTGAGGGCCAAGGATGTTTGTCTACATAAGTGCACGAGGCAAGCATGCAGCTGTGCCTGCTGTTATTATCATTGTTGCTGTAATTATGCTTACAACATGAAAGAACTACCTGCCTGCAAGAATGAACAAGAGGCCTTGCACTGTGGGGCTCCAGGGGTTCCTTTCAGGCCCAGGAACCAAGGGGAGAATTGAGATCTCAGAGCTGTTTGGAGTGGGGTGAGTAGGCCTCCAGGGAGAACTGAGGCATTGGTGTGGCTAGTAATGTGGGCCAGCCCTACAGTCTCATGCCAGCACAGGGCTCAGAGATCAGGCGCACTCACCCTCAGCAATGGCGCCCAGCACCAGGATGCCCGACTCCTTGACCACCCACTCGGGGTGGAAGAGGAGGCCTTTGAGTAGTGGGAGTAGGTGGGGCAGCAGTTCCTCCCGGAAGACATTGGCGAGGACGTCCAGTGCAGCCGCTGAGCACTTCCCTGGGGAAGGGGGAACAATGGGGAGGCTCAGGGCGGCCCCTCAGGCAGGTGGCCGACCCTCCTTGACTGCACTCCCAGGATCAGAGATCATGCTCAGAATCTTCACGATCAGCTTCTTTTTTTTTGTTTTGTTTTTTTGAGACGGAGTCTCACTTTTTCCGCCCAGGCCGGAGTGCAGTGGCGCTATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCATGCCGTTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGACACCACGCCCGACTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTGTTGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTTCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGCGCCCGGCCACGATCAGCTTCTAATCAGCTTCTGCCTCAGCTTCTAGTCACCTCCCAAGAGGGAGTCCAGGGCTTGCCACCCCACCACCACCCCCAGGCAGGGGCACACACTCAAATTCCGGTCGGACAGAGCATCATCATCATCGTCATCCTCCGCGTCCTCGGAGCCATCAGGCCGCTCAGCCTCGTGGGGCAGTGTGACCGTGCGTGACTTGTGGAAGCGTGGCTTGATGTCCTGCTCACTGTCGGGGACAGCCTCATCCTCCTCCACATCCCCCTGGGGGACAGGCAGACTGTTAAGTACTTTGGGGACCACAGCCGCGACACCCACGCCCATGCCCACCCATGCTGGGTGGGCCCTGCCTGACCTTGAGCAGGATGATGTCAATTTCCGAGTACTTCATCCCATTCACCAAGATGGGGATCAACCTGCACAGAGAGGGACTGTTTATGGGGATGCAGGGGCCGTGGCAAAAGTTGGGGGGAGGCACAGCTTGGGGAGGAGGCAAACAGGTGCCAACAGAGTGACCAGCCCCCCAATCAGCCACAGAGCAGACCCTGCAGAGCATGATGGTACTGCTAGGTGCAAATTGATCCATTTCCCTCTGGGGAATTATCGGAATCTAGTCTCTGCCGCTATGATTAGGATATAAATGATACCACTCCTGCCTCCAGAGAAAGGTTTTTTTTTTTTTTTCTTAAGAAGCAGGGTCTAACCCTGTGGGCGGCAAGCCACCCAGGCACCGAGGCAAGAGACAGAGGACACGAGCTGTTCCAGTATAATAAAATATAAAACAAGAATAGTTATACCAGATATAGATCTTAGATATGATTATATATGAATATCATTAATCATTAGTTTGTAGCAATTACTTTTTATTCCAATATTATGATAATCCTCGCTCTATAATCATAGCCTAGGAAAAACCAGGCCATACAGAGATAGGAGCTGAGGGGACATAGTGAGGTGTGACCAGAAGACAAGAGTGCGAGCCTTCTGTTATGCCCGGACAGGGCCACCAGAGGGCTCCTTGGTCTAGCGGTGACGCCAGCATCTGGGAAGACGCCCGTTACCAGGCGGATCATGGTCCAGCGGTAGCAAAAGGTGTCAAGGAACAACACCCGCTACTTAGCAGACCAGGAAAGTGGGGGAGTCTCCCTTTCCCCGGGGGAGTTTAGAGAAGACTCTGCTCCTCCACCTCTTGTGGAGGGCCTGACATCAGTCAGGTTTGCCCGCAGTTATCCGGAGGCCTAACCGTCTCCCTGAGATGCTGTGCTTCAGTGGTCACACTCCTAGTCTGCCTTCATGTTCCATCCTGTACACCTGGCTCTGCCTTCCAGATAGCAGTAGTAAATTAGTGAAAATACTAATAGTCCCTGATATGCAGAAATAATGGCATACGCTGTCTTTCTCTTTGTCTACTCTCCCTCTCTGCCTCGGCTGCCAGGCAGGGAAGGGCCCCCTGTCCAGTGGACACGTGACCCATGTGACCTTACCTATCATTGGAGGTGACTCACATTCTTTACCCTGCCCCTTCTGCCTTGTATGCAATAAATAACAGCGCAGCCAGACATTTGGGGTCACTACCGGTCTCCGCGCATTGGTGGTAGTGGTCCCCCGGGCCCAGCTGCCTTTTCTATTATCTCTTTGTCTTGTGTCTTTATTTCTACACTCTCTCATCGCCGCACACAGGAAGAGACCCACCGACCCTGTGGGGCTGGTCCCTACGTAACCCTATCACCCAGGCTGGAGTGCACTGGTGCGATCACAGCTCACCACAGCCTCATGCTCCTGGGCTCATGCAATCCTCCTGCCTCAGCCTCCCAAAGTGCTAGGATTATAGGCGTGAGCCATGGCACTCAGCCTGCAGGAAAGCTCTTGACCCAGGCCTGGCCACTCAGTGGATTATAGACCCCTGAATACACTGAAAATCTTGGTACAGTGCCTGGTCCCTAGCACAACATTAAGGCAGGGACATGCGGTCCTATTCCTGGCCACTTTCCTGAGATAGGGCAGAGACTAGCCAGAGTAGGGGAGCAAACAGACTAGGCAGCCAGCCCCTCAGCTGCAGCCCAGAGTTGTAAGTGACAGAGCCTTCATCACCTGCTCATCTAGGTCTCATCACTCCCCAGGAGCCGTCTGCCCAGCCCTAGACTGTTATCAATAA 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Task1_train_26561 | This alteration in TNPO2 (transportin 2) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; TNPO2-related disorder | TAGTGAGACCTCACCTCTAATGAATGATAAATAAATAAATAAATAAATAAATAAATAAATAAACATACAATATGCTGGGCGTGGTGACTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAAGTGGGCAGAACACAAGGTCAGGAAGCTGAGGCAAGAGAATCGCTTGAACCCGAGGGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCCCTCCAGCCTGGGCAGCAGAGTGAGACTCCGTCTCAAAAACAGAAATTTCAAAATAATAATAATAATGATCTGGGGGCTGGGTACAGTGGCTCGCACCTGTAATCTCAACACTTTAGGAGACCAAGACAGGAGGACTGCTTGAGGCCAGGGATCCGAGACCAGCCAGAGCAACTTAGCAAGACCTCATCTCTACTAAAACTTAGAAAAGATTAGCTAGGTGTGGTGGGATGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATTGCTTCAGCTGGGAGGTCAAGGCTGCAGTGAGCCATGATTTTGACACTCCACTCCAGCGTGGATGACAGAGCAAAACCTTGTCTCAAAATAAAAAAGAAAAAAATGATTTGGAGAGAGGCAAGCAATCCAAGTTTGTCAAGGAGGGTCAGTTTTAGGACTTTTGTTGGAAACACTGGTCGAAAATTTCTTTACTCTGAAGTTCCTAAGCTGGAAGGGCACAGAAGGCTACAGCACTACCCAGAGGGAAGGTTGTGCCTAAGAATGAAGCCAACACAAGGGAAGCAGATCTGAGACCACAAAGATGCCTTTCACATCCTTTGAGCTCCTGGATACAGCCATACCCCTGAAGCCTTTGTTGATTTTTCATTTCTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGACCTTGGCTCACTACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCCAAGCAGCTGGGACTACAGGCGCCTGCCACCACGCCCAGCTATTTTTTTATATTTTTAGTAGAAATGGGGTTTCACCGTGTTAGCCAGGCTGGTCTCGATCTTCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTCAGCCACCACATGTGGCCATTGATTTTTCATTTCTTTCCACCTATCAGTTACCTAATTTTGAAGTCTTCAAAAAGTGGCATTCTTACCACTTACACATAAATATATACTGAATGTAAACTGACAAGGATGTGGACTGAGAGAAGCACAGCAGGTGACCAGAAGGGAAGGCAGAGGCATAGCAAGGGGTCGAAGCTGGGGTAGGACAGTGGGCAGCAGCAGCACTCACTGGACCAGATGGGAGGCCAGGACTTCCTTGCAGATGGGCTGCTCGGCCAGCGTCAGCCAGAACTCACAGGCCTCAAGGGCAACGTTCTCATCATGGTCCTGGGTCCTCTGCAGCATGTACTGTGGTAGGGGGGAGAAGCTGAGGCCTGGCCTGGCTGGGGGTGGCTCCCTGACCCCTGCCACCGGCCCCCTGCCTGCCCGCCTGGGCTGGCCTTGACCATGCACACCTGGATGATGCTGTGCATGTGGGGGATGAGCCTGTCAATCCGCACTTCCAGAAGCATCACCAGGGCACGGCACACATTCTTCCGCACCTCGGGGTCATCATCCACAGCCAGGGCAAATAGGTGCTGCAGGGAGGAACAGGGTCAGTTGTAGGGGCCCTCAGTCCTCGCCCTGCCCACCCCCAGCCCAGCGGCCCACCTCGATGAAGGTGTCAATATTGTCCATCAGCGCCTGGGCCCGGTCCATGATGAACTGGTTCACGCAGGCGATGGCGTGGGACCTGGCGGGGAGCAGACACGTGGGTCACCCTGACCCTGCCCACTCCAGGCTCCCTGGAAGCCCCCAGGGAGCTGCACCCACCGGATCTTGGGACTGCAGTGCTTGAAGAACTGCAGGAACTTGGGGATCATGATGTTGAGGGGCCTGTTGAGGGCGTCACTGTCCAGAAGCTCTGATGAGTCTTCACAGATCTTCTGCAGGGCTCCAAAGGCTCCCTGAGTGCAGAGGGGCAGAGAGACAAACGTGGGTGGTGGGTGGTGGTCCCAGCCCCCCAGTACTCGCTCTGGCCATCCATGGCTTCTTGCCTACCTCACAAGTGTTGTAATCCTCCGAGTTAAGCAGGTTGCAGAGCTGGGGCAGCAGCTCGGGCCACATCTGCAGCTCACCCTTGGAAGCGATGGTGGTGATGAGAATGCCTGGGGCGGCCGGGAAAGGACGCTGCCTGAGGCTGGGCAGGGGCTGCCTAGCACCTCCCCCTCCCACTGGACACCCCCAGTGCTGCCTTTCTGTTCCCTAGCCCATGTACGCCCTCTACATCCCCCCTCCTTTTTTTTTTCTTTGTAAGAGATAGAATTAGCTCTGTTGCCCAGGCTGGACTGCTGTGGCACAATCAATAGTCCACAGCAGCCTCAAACTCCTGGCCTCAAGCCATCTTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTGCAGGCACATGCCACCACGCCCAACTAATTTTTAAAATTGTTTGTAGAGATGGGATCTCACTATGTTGCCCAGGCTGGCCTAAAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCAAAAGCACTGAGATTACAGGCGTGAGCCACCGCTCCTGGCCTTGACATAGGTAGAAGGGTACTCCTTGACTCAGTAGGCACCCTGAGCCTTACTGTGAGTCAACTCTGTTCCAGGCCCTGAGGCACAGCACAGAGCAAAACACAAAATCCTCACCCTTGGGAGCTGGAAGCAAGCTATGAAGTAAAGATAAATTAGCAAAAAAAACTGGGAGGGGCCGTGCATGGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGACCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGGGGGCACCAGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCAGAGATCGCGCCACAGCACTCCAGCCTGGGATGGAGCAAGACTCCATTTCAAAAACAAACAAAACAAAAACAAACAACTGGGAGGGGCCACATGCCAAGGACTAAGGGGGGAAATACAGCAGAAAAGATGGTGAGAAAGGGCTGTAGGTGAAGGTAGCAACTTTAAATTGGGTGGCCAGAGCAGGCCTCGTTGAGGTGACATCTTGATATCTGAGCCAAGGCCTGAAGGAGGTGAAGGAGGCGAGGGAGGAATCATCCAGGTTTCTGGGGAAAGGGCATCTGAGGCAGGGGACTCTATGGTGCAAAGGCCTGGCGTAAGGACAGGCATGATGAGAGAGGGAAAGGAGGTAAGGGCAGGAAGGTGGCAGGGATGCTTGTACTGCCTATTAGATATCCAGGAGTTACATACAGCAGGCATCTGAGGTGCCAGGACAGTGCACATATCTGGTGACAGAGCTGGATATGGGTTCTGTTAAGTGCAGAGATGGTATTTGCTGCCATGAGATGGCAGTGTTTCCCAAGGGTGGAAACTCAACGAGAGAAAGGTGCTCCCTGCAATGGGTAGGTACACAGTGAGGATTGTGGAACTTTAGCCACACCCCCTCATTCTGTGTGCCTCAGTGCTTCCAGCCCTCAGAAGAGATAAAGAAAACCAGCCTCCTAACTAAGGTTATCAGTAGGTTTCTTTTTCTCTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTAGTCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCGAGTTCAGGTAATTCCCCTGCCTCAGCCTCTGAAGCAGCTGGGATTACAGGTGCCCGCTGCCACACTCAGCAAATTTTTGTATTTTTAGTAGAGATAGAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAGGTGCTGGGATTAGAGGCG 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TAGTGAGACCTCACCTCTAATGAATGATAAATAAATAAATAAATAAATAAATAAATAAATAAACATACAATATGCTGGGCGTGGTGACTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAAGTGGGCAGAACACAAGGTCAGGAAGCTGAGGCAAGAGAATCGCTTGAACCCGAGGGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCCCTCCAGCCTGGGCAGCAGAGTGAGACTCCGTCTCAAAAACAGAAATTTCAAAATAATAATAATAATGATCTGGGGGCTGGGTACAGTGGCTCGCACCTGTAATCTCAACACTTTAGGAGACCAAGACAGGAGGACTGCTTGAGGCCAGGGATCCGAGACCAGCCAGAGCAACTTAGCAAGACCTCATCTCTACTAAAACTTAGAAAAGATTAGCTAGGTGTGGTGGGATGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATTGCTTCAGCTGGGAGGTCAAGGCTGCAGTGAGCCATGATTTTGACACTCCACTCCAGCGTGGATGACAGAGCAAAACCTTGTCTCAAAATAAAAAAGAAAAAAATGATTTGGAGAGAGGCAAGCAATCCAAGTTTGTCAAGGAGGGTCAGTTTTAGGACTTTTGTTGGAAACACTGGTCGAAAATTTCTTTACTCTGAAGTTCCTAAGCTGGAAGGGCACAGAAGGCTACAGCACTACCCAGAGGGAAGGTTGTGCCTAAGAATGAAGCCAACACAAGGGAAGCAGATCTGAGACCACAAAGATGCCTTTCACATCCTTTGAGCTCCTGGATACAGCCATACCCCTGAAGCCTTTGTTGATTTTTCATTTCTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGACCTTGGCTCACTACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCCAAGCAGCTGGGACTACAGGCGCCTGCCACCACGCCCAGCTATTTTTTTATATTTTTAGTAGAAATGGGGTTTCACCGTGTTAGCCAGGCTGGTCTCGATCTTCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTCAGCCACCACATGTGGCCATTGATTTTTCATTTCTTTCCACCTATCAGTTACCTAATTTTGAAGTCTTCAAAAAGTGGCATTCTTACCACTTACACATAAATATATACTGAATGTAAACTGACAAGGATGTGGACTGAGAGAAGCACAGCAGGTGACCAGAAGGGAAGGCAGAGGCATAGCAAGGGGTCGAAGCTGGGGTAGGACAGTGGGCAGCAGCAGCACTCACTGGACCAGATGGGAGGCCAGGACTTCCTTGCAGATGGGCTGCTCGGCCAGCGTCAGCCAGAACTCACAGGCCTCAAGGGCAACGTTCTCATCATGGTCCTGGGTCCTCTGCAGCATGTACTGTGGTAGGGGGGAGAAGCTGAGGCCTGGCCTGGCTGGGGGTGGCTCCCTGACCCCTGCCACCGGCCCCCTGCCTGCCCGCCTGGGCTGGCCTTGACCATGCACACCTGGATGATGCTGTGCATGTGGGGGATGAGCCTGTCAATCCGCACTTCCAGAAGCATCACCAGGGCACGGCACACATTCTTCCGCACCTCGGGGTCATCATCCACAGCCAGGGCAAATAGGTGCTGCAGGGAGGAACAGGGTCAGTTGTAGGGGCCCTCAGTCCTCGCCCTGCCCACCCCCAGCCCAGCGGCCCACCTCGATGAAGGTGTCAATATTGTCCATCAGCGCCTGGGCCCGGTCCATGATGAACTGGTTCACGCAGGCGATGGCGTGGGACCTGGCGGGGAGCAGACACGTGGGTCACCCTGACCCTGCCCACTCCAGGCTCCCTGGAAGCCCCCAGGGAGCTGCACCCACCGGATCTTGGGACTGCAGTGCTTGAAGAACTGCAGGAACTTGGGGATCATGATGTTGAGGGGCCTGTTGAGGGCGTCACTGTCCAGAAGCTCTGATGAGTTTTCACAGATCTTCTGCAGGGCTCCAAAGGCTCCCTGAGTGCAGAGGGGCAGAGAGACAAACGTGGGTGGTGGGTGGTGGTCCCAGCCCCCCAGTACTCGCTCTGGCCATCCATGGCTTCTTGCCTACCTCACAAGTGTTGTAATCCTCCGAGTTAAGCAGGTTGCAGAGCTGGGGCAGCAGCTCGGGCCACATCTGCAGCTCACCCTTGGAAGCGATGGTGGTGATGAGAATGCCTGGGGCGGCCGGGAAAGGACGCTGCCTGAGGCTGGGCAGGGGCTGCCTAGCACCTCCCCCTCCCACTGGACACCCCCAGTGCTGCCTTTCTGTTCCCTAGCCCATGTACGCCCTCTACATCCCCCCTCCTTTTTTTTTTCTTTGTAAGAGATAGAATTAGCTCTGTTGCCCAGGCTGGACTGCTGTGGCACAATCAATAGTCCACAGCAGCCTCAAACTCCTGGCCTCAAGCCATCTTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTGCAGGCACATGCCACCACGCCCAACTAATTTTTAAAATTGTTTGTAGAGATGGGATCTCACTATGTTGCCCAGGCTGGCCTAAAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCAAAAGCACTGAGATTACAGGCGTGAGCCACCGCTCCTGGCCTTGACATAGGTAGAAGGGTACTCCTTGACTCAGTAGGCACCCTGAGCCTTACTGTGAGTCAACTCTGTTCCAGGCCCTGAGGCACAGCACAGAGCAAAACACAAAATCCTCACCCTTGGGAGCTGGAAGCAAGCTATGAAGTAAAGATAAATTAGCAAAAAAAACTGGGAGGGGCCGTGCATGGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGACCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGGGGGCACCAGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCAGAGATCGCGCCACAGCACTCCAGCCTGGGATGGAGCAAGACTCCATTTCAAAAACAAACAAAACAAAAACAAACAACTGGGAGGGGCCACATGCCAAGGACTAAGGGGGGAAATACAGCAGAAAAGATGGTGAGAAAGGGCTGTAGGTGAAGGTAGCAACTTTAAATTGGGTGGCCAGAGCAGGCCTCGTTGAGGTGACATCTTGATATCTGAGCCAAGGCCTGAAGGAGGTGAAGGAGGCGAGGGAGGAATCATCCAGGTTTCTGGGGAAAGGGCATCTGAGGCAGGGGACTCTATGGTGCAAAGGCCTGGCGTAAGGACAGGCATGATGAGAGAGGGAAAGGAGGTAAGGGCAGGAAGGTGGCAGGGATGCTTGTACTGCCTATTAGATATCCAGGAGTTACATACAGCAGGCATCTGAGGTGCCAGGACAGTGCACATATCTGGTGACAGAGCTGGATATGGGTTCTGTTAAGTGCAGAGATGGTATTTGCTGCCATGAGATGGCAGTGTTTCCCAAGGGTGGAAACTCAACGAGAGAAAGGTGCTCCCTGCAATGGGTAGGTACACAGTGAGGATTGTGGAACTTTAGCCACACCCCCTCATTCTGTGTGCCTCAGTGCTTCCAGCCCTCAGAAGAGATAAAGAAAACCAGCCTCCTAACTAAGGTTATCAGTAGGTTTCTTTTTCTCTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTAGTCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCGAGTTCAGGTAATTCCCCTGCCTCAGCCTCTGAAGCAGCTGGGATTACAGGTGCCCGCTGCCACACTCAGCAAATTTTTGTATTTTTAGTAGAGATAGAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAGGTGCTGGGATTAGAGGCG 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Task1_train_26562 | Here is a mutation in TNPO2 (transportin 2) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | TAGTGAGACCTCACCTCTAATGAATGATAAATAAATAAATAAATAAATAAATAAATAAATAAACATACAATATGCTGGGCGTGGTGACTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAAGTGGGCAGAACACAAGGTCAGGAAGCTGAGGCAAGAGAATCGCTTGAACCCGAGGGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCCCTCCAGCCTGGGCAGCAGAGTGAGACTCCGTCTCAAAAACAGAAATTTCAAAATAATAATAATAATGATCTGGGGGCTGGGTACAGTGGCTCGCACCTGTAATCTCAACACTTTAGGAGACCAAGACAGGAGGACTGCTTGAGGCCAGGGATCCGAGACCAGCCAGAGCAACTTAGCAAGACCTCATCTCTACTAAAACTTAGAAAAGATTAGCTAGGTGTGGTGGGATGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATTGCTTCAGCTGGGAGGTCAAGGCTGCAGTGAGCCATGATTTTGACACTCCACTCCAGCGTGGATGACAGAGCAAAACCTTGTCTCAAAATAAAAAAGAAAAAAATGATTTGGAGAGAGGCAAGCAATCCAAGTTTGTCAAGGAGGGTCAGTTTTAGGACTTTTGTTGGAAACACTGGTCGAAAATTTCTTTACTCTGAAGTTCCTAAGCTGGAAGGGCACAGAAGGCTACAGCACTACCCAGAGGGAAGGTTGTGCCTAAGAATGAAGCCAACACAAGGGAAGCAGATCTGAGACCACAAAGATGCCTTTCACATCCTTTGAGCTCCTGGATACAGCCATACCCCTGAAGCCTTTGTTGATTTTTCATTTCTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGACCTTGGCTCACTACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCCAAGCAGCTGGGACTACAGGCGCCTGCCACCACGCCCAGCTATTTTTTTATATTTTTAGTAGAAATGGGGTTTCACCGTGTTAGCCAGGCTGGTCTCGATCTTCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTCAGCCACCACATGTGGCCATTGATTTTTCATTTCTTTCCACCTATCAGTTACCTAATTTTGAAGTCTTCAAAAAGTGGCATTCTTACCACTTACACATAAATATATACTGAATGTAAACTGACAAGGATGTGGACTGAGAGAAGCACAGCAGGTGACCAGAAGGGAAGGCAGAGGCATAGCAAGGGGTCGAAGCTGGGGTAGGACAGTGGGCAGCAGCAGCACTCACTGGACCAGATGGGAGGCCAGGACTTCCTTGCAGATGGGCTGCTCGGCCAGCGTCAGCCAGAACTCACAGGCCTCAAGGGCAACGTTCTCATCATGGTCCTGGGTCCTCTGCAGCATGTACTGTGGTAGGGGGGAGAAGCTGAGGCCTGGCCTGGCTGGGGGTGGCTCCCTGACCCCTGCCACCGGCCCCCTGCCTGCCCGCCTGGGCTGGCCTTGACCATGCACACCTGGATGATGCTGTGCATGTGGGGGATGAGCCTGTCAATCCGCACTTCCAGAAGCATCACCAGGGCACGGCACACATTCTTCCGCACCTCGGGGTCATCATCCACAGCCAGGGCAAATAGGTGCTGCAGGGAGGAACAGGGTCAGTTGTAGGGGCCCTCAGTCCTCGCCCTGCCCACCCCCAGCCCAGCGGCCCACCTCGATGAAGGTGTCAATATTGTCCATCAGCGCCTGGGCCCGGTCCATGATGAACTGGTTCACGCAGGCGATGGCGTGGGACCTGGCGGGGAGCAGACACGTGGGTCACCCTGACCCTGCCCACTCCAGGCTCCCTGGAAGCCCCCAGGGAGCTGCACCCACCGGATCTTGGGACTGCAGTGCTTGAAGAACTGCAGGAACTTGGGGATCATGATGTTGAGGGGCCTGTTGAGGGCGTCACTGTCCAGAAGCTCTGATGAGTCTTCACAGATCTTCTGCAGGGCTCCAAAGGCTCCCTGAGTGCAGAGGGGCAGAGAGACAAACGTGGGTGGTGGGTGGTGGTCCCAGCCCCCCAGTACTCGCTCTGGCCATCCATGGCTTCTTGCCTACCTCACAAGTGTTGTAATCCTCCGAGTTAAGCAGGTTGCAGAGCTGGGGCAGCAGCTCGGGCCACATCTGCAGCTCACCCTTGGAAGCGATGGTGGTGATGAGAATGCCTGGGGCGGCCGGGAAAGGACGCTGCCTGAGGCTGGGCAGGGGCTGCCTAGCACCTCCCCCTCCCACTGGACACCCCCAGTGCTGCCTTTCTGTTCCCTAGCCCATGTACGCCCTCTACATCCCCCCTCCTTTTTTTTTTCTTTGTAAGAGATAGAATTAGCTCTGTTGCCCAGGCTGGACTGCTGTGGCACAATCAATAGTCCACAGCAGCCTCAAACTCCTGGCCTCAAGCCATCTTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTGCAGGCACATGCCACCACGCCCAACTAATTTTTAAAATTGTTTGTAGAGATGGGATCTCACTATGTTGCCCAGGCTGGCCTAAAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCAAAAGCACTGAGATTACAGGCGTGAGCCACCGCTCCTGGCCTTGACATAGGTAGAAGGGTACTCCTTGACTCAGTAGGCACCCTGAGCCTTACTGTGAGTCAACTCTGTTCCAGGCCCTGAGGCACAGCACAGAGCAAAACACAAAATCCTCACCCTTGGGAGCTGGAAGCAAGCTATGAAGTAAAGATAAATTAGCAAAAAAAACTGGGAGGGGCCGTGCATGGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGACCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGGGGGCACCAGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCAGAGATCGCGCCACAGCACTCCAGCCTGGGATGGAGCAAGACTCCATTTCAAAAACAAACAAAACAAAAACAAACAACTGGGAGGGGCCACATGCCAAGGACTAAGGGGGGAAATACAGCAGAAAAGATGGTGAGAAAGGGCTGTAGGTGAAGGTAGCAACTTTAAATTGGGTGGCCAGAGCAGGCCTCGTTGAGGTGACATCTTGATATCTGAGCCAAGGCCTGAAGGAGGTGAAGGAGGCGAGGGAGGAATCATCCAGGTTTCTGGGGAAAGGGCATCTGAGGCAGGGGACTCTATGGTGCAAAGGCCTGGCGTAAGGACAGGCATGATGAGAGAGGGAAAGGAGGTAAGGGCAGGAAGGTGGCAGGGATGCTTGTACTGCCTATTAGATATCCAGGAGTTACATACAGCAGGCATCTGAGGTGCCAGGACAGTGCACATATCTGGTGACAGAGCTGGATATGGGTTCTGTTAAGTGCAGAGATGGTATTTGCTGCCATGAGATGGCAGTGTTTCCCAAGGGTGGAAACTCAACGAGAGAAAGGTGCTCCCTGCAATGGGTAGGTACACAGTGAGGATTGTGGAACTTTAGCCACACCCCCTCATTCTGTGTGCCTCAGTGCTTCCAGCCCTCAGAAGAGATAAAGAAAACCAGCCTCCTAACTAAGGTTATCAGTAGGTTTCTTTTTCTCTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTAGTCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCGAGTTCAGGTAATTCCCCTGCCTCAGCCTCTGAAGCAGCTGGGATTACAGGTGCCCGCTGCCACACTCAGCAAATTTTTGTATTTTTAGTAGAGATAGAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAGGTGCTGGGATTAGAGGCG 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TAGTGAGACCTCACCTCTAATGAATGATAAATAAATAAATAAATAAATAAATAAATAAATAAACATACAATATGCTGGGCGTGGTGACTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAAGTGGGCAGAACACAAGGTCAGGAAGCTGAGGCAAGAGAATCGCTTGAACCCGAGGGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCCCTCCAGCCTGGGCAGCAGAGTGAGACTCCGTCTCAAAAACAGAAATTTCAAAATAATAATAATAATGATCTGGGGGCTGGGTACAGTGGCTCGCACCTGTAATCTCAACACTTTAGGAGACCAAGACAGGAGGACTGCTTGAGGCCAGGGATCCGAGACCAGCCAGAGCAACTTAGCAAGACCTCATCTCTACTAAAACTTAGAAAAGATTAGCTAGGTGTGGTGGGATGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATTGCTTCAGCTGGGAGGTCAAGGCTGCAGTGAGCCATGATTTTGACACTCCACTCCAGCGTGGATGACAGAGCAAAACCTTGTCTCAAAATAAAAAAGAAAAAAATGATTTGGAGAGAGGCAAGCAATCCAAGTTTGTCAAGGAGGGTCAGTTTTAGGACTTTTGTTGGAAACACTGGTCGAAAATTTCTTTACTCTGAAGTTCCTAAGCTGGAAGGGCACAGAAGGCTACAGCACTACCCAGAGGGAAGGTTGTGCCTAAGAATGAAGCCAACACAAGGGAAGCAGATCTGAGACCACAAAGATGCCTTTCACATCCTTTGAGCTCCTGGATACAGCCATACCCCTGAAGCCTTTGTTGATTTTTCATTTCTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGACCTTGGCTCACTACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCCAAGCAGCTGGGACTACAGGCGCCTGCCACCACGCCCAGCTATTTTTTTATATTTTTAGTAGAAATGGGGTTTCACCGTGTTAGCCAGGCTGGTCTCGATCTTCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTCAGCCACCACATGTGGCCATTGATTTTTCATTTCTTTCCACCTATCAGTTACCTAATTTTGAAGTCTTCAAAAAGTGGCATTCTTACCACTTACACATAAATATATACTGAATGTAAACTGACAAGGATGTGGACTGAGAGAAGCACAGCAGGTGACCAGAAGGGAAGGCAGAGGCATAGCAAGGGGTCGAAGCTGGGGTAGGACAGTGGGCAGCAGCAGCACTCACTGGACCAGATGGGAGGCCAGGACTTCCTTGCAGATGGGCTGCTCGGCCAGCGTCAGCCAGAACTCACAGGCCTCAAGGGCAACGTTCTCATCATGGTCCTGGGTCCTCTGCAGCATGTACTGTGGTAGGGGGGAGAAGCTGAGGCCTGGCCTGGCTGGGGGTGGCTCCCTGACCCCTGCCACCGGCCCCCTGCCTGCCCGCCTGGGCTGGCCTTGACCATGCACACCTGGATGATGCTGTGCATGTGGGGGATGAGCCTGTCAATCCGCACTTCCAGAAGCATCACCAGGGCACGGCACACATTCTTCCGCACCTCGGGGTCATCATCCACAGCCAGGGCAAATAGGTGCTGCAGGGAGGAACAGGGTCAGTTGTAGGGGCCCTCAGTCCTCGCCCTGCCCACCCCCAGCCCAGCGGCCCACCTCGATGAAGGTGTCAATATTGTCCATCAGCGCCTGGGCCCGGTCCATGATGAACTGGTTCACGCAGGCGATGGCGTGGGACCTGGCGGGGAGCAGACACGTGGGTCACCCTGACCCTGCCCACTCCAGGCTCCCTGGAAGCCCCCAGGGAGCTGCACCCACCGGATCTTGGGACTGCAGTGCTTGAAGAACTGCAGGAACTTGGGGATCATGATGTTGAGGGGCCTGTTGAGGGCGTCACTGTCCAGAAGCTCTGATGAGTTTTCACAGATCTTCTGCAGGGCTCCAAAGGCTCCCTGAGTGCAGAGGGGCAGAGAGACAAACGTGGGTGGTGGGTGGTGGTCCCAGCCCCCCAGTACTCGCTCTGGCCATCCATGGCTTCTTGCCTACCTCACAAGTGTTGTAATCCTCCGAGTTAAGCAGGTTGCAGAGCTGGGGCAGCAGCTCGGGCCACATCTGCAGCTCACCCTTGGAAGCGATGGTGGTGATGAGAATGCCTGGGGCGGCCGGGAAAGGACGCTGCCTGAGGCTGGGCAGGGGCTGCCTAGCACCTCCCCCTCCCACTGGACACCCCCAGTGCTGCCTTTCTGTTCCCTAGCCCATGTACGCCCTCTACATCCCCCCTCCTTTTTTTTTTCTTTGTAAGAGATAGAATTAGCTCTGTTGCCCAGGCTGGACTGCTGTGGCACAATCAATAGTCCACAGCAGCCTCAAACTCCTGGCCTCAAGCCATCTTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTGCAGGCACATGCCACCACGCCCAACTAATTTTTAAAATTGTTTGTAGAGATGGGATCTCACTATGTTGCCCAGGCTGGCCTAAAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCAAAAGCACTGAGATTACAGGCGTGAGCCACCGCTCCTGGCCTTGACATAGGTAGAAGGGTACTCCTTGACTCAGTAGGCACCCTGAGCCTTACTGTGAGTCAACTCTGTTCCAGGCCCTGAGGCACAGCACAGAGCAAAACACAAAATCCTCACCCTTGGGAGCTGGAAGCAAGCTATGAAGTAAAGATAAATTAGCAAAAAAAACTGGGAGGGGCCGTGCATGGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGACCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGGGGGCACCAGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCAGAGATCGCGCCACAGCACTCCAGCCTGGGATGGAGCAAGACTCCATTTCAAAAACAAACAAAACAAAAACAAACAACTGGGAGGGGCCACATGCCAAGGACTAAGGGGGGAAATACAGCAGAAAAGATGGTGAGAAAGGGCTGTAGGTGAAGGTAGCAACTTTAAATTGGGTGGCCAGAGCAGGCCTCGTTGAGGTGACATCTTGATATCTGAGCCAAGGCCTGAAGGAGGTGAAGGAGGCGAGGGAGGAATCATCCAGGTTTCTGGGGAAAGGGCATCTGAGGCAGGGGACTCTATGGTGCAAAGGCCTGGCGTAAGGACAGGCATGATGAGAGAGGGAAAGGAGGTAAGGGCAGGAAGGTGGCAGGGATGCTTGTACTGCCTATTAGATATCCAGGAGTTACATACAGCAGGCATCTGAGGTGCCAGGACAGTGCACATATCTGGTGACAGAGCTGGATATGGGTTCTGTTAAGTGCAGAGATGGTATTTGCTGCCATGAGATGGCAGTGTTTCCCAAGGGTGGAAACTCAACGAGAGAAAGGTGCTCCCTGCAATGGGTAGGTACACAGTGAGGATTGTGGAACTTTAGCCACACCCCCTCATTCTGTGTGCCTCAGTGCTTCCAGCCCTCAGAAGAGATAAAGAAAACCAGCCTCCTAACTAAGGTTATCAGTAGGTTTCTTTTTCTCTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTAGTCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCGAGTTCAGGTAATTCCCCTGCCTCAGCCTCTGAAGCAGCTGGGATTACAGGTGCCCGCTGCCACACTCAGCAAATTTTTGTATTTTTAGTAGAGATAGAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAGGTGCTGGGATTAGAGGCG 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Task1_train_26563 | Given this variant in gene GET3 (guided entry of tail-anchored proteins factor 3, ATPase) on Chromosome 19, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Cardiomyopathy, dilated, 2H | ACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAGGCTCCGCCCCCTGGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTAACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGCATGGTGGGGCATGCCTATAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGTGATGAGCTGAGATCGCGCCACTGCACTCCAGCCTAGGCAACAAGATCAAAACTCCATCTCGGGAAAAAAAAAAAAAAAAGAGGGAGGCATTGAGTCTGAGACTGGCCAGGGACCCCAGCCATGGCCATCCCTTCATAGATTCTACATACATGTTTGTGTTTTGTTTTGTTGTTTGTTTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGCTGGAGTGTAATGGCGTGATCTCGGCTCACTGTAACCTCTGCCTCCCGGGTTCAAGCGATTCCCCTGCCTCAACCTCCAGAGTAGCTGGGATTATAGGCACCCGCCACTATGCATGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGCCTCAAGCTCCCGACCTCAGGTGATCTGCCCGCCTCCGCTTCCCAAAGGGCTGGAATTACAGGCATGAGGTACCGCGCCTGGCTGGATTCCCCATATGTGCTGACGACCTCTGTGCCAGGCACTGTTCATGCTAAGCGCTAAGGACACAGCAGTGAACTAGATGGTAAAACCCCTGCCCCTGAGGGGCAGACATTCCTGCTATGGAGACAGATGATAAACATGATAAGGGAATCATGAGGGATGTGAGGAAGGGCTAATTTTTTTTTCAGATAGGTCTTGCTATATTGCCCAGGCTGGTGTCCAACTCCTGGGCTCAAGCGATCCTCCCATCTCATTCTCCTGAGTACCTGGGACTACAGGCGTGAGCTATCCTGCCCAGCTCCTAAGGGCTAAACCTTAAGGAGAAAGGAAGGCAGGGCAGGGGTGTCGGTGGATCTGTGCTGTTACTTAGGGTGGTCAGGGAGTCTCTCAGTGGAGGGATGATGATCCGGAAGAGGTCATGGCCCAGTCATGGGAGTATCTGGGGTTGCAAGTGGCAGGTTGCAAGTGGGGAGTAGCAGTGTAAATGGCCCGCAGTGGGTTTCAGCTTCCCTTTGAGGGCCCTGGGCACAGCTTGCAATTTTCCCCTTGTTTTTGACCCTTTATGCAACCATACAAAACCCTAAGTACTACCTCAGGGTCCCCCCAGCCGTGACCTAATGAAATGCCTGTGGTCACAGCCCACCACAGGCTCCCTCTGGCCCTGTGCCCGGGTAGGAAGGCTCCCCCTGGCCCTGTGCCCAGGTGGGAAGGCTCCCCCAGCAGTAGCAGCAACCTCAGTCTCATCCCTTTGGCCCCCAGGAGATTGACCCCAGCCTGGGCGTGGCGGAGCTGCCTGACGAGTTCTTCGAGGAGGACAACATGCTGAGCATGGGCAAGAAGATGATGCAGGAGGCCATGAGCGCATTTCCCGGCATCGATGAGGCCATGAGCTATGCCGAGGTCATGAGGTCAGGCCCAGCCAGCAGGGGTGGGGGCTGCCTGGGGAAGGGGAAGAGCGGACACAGAGGGCCTGACCCCTGTCTCCCCTCAGGCTGGTGAAGGGCATGAACTTCTCGGTGGTGGTATTTGACACGGCACCCACGGGCCACACCCTGAGGCTGCTCAACTTCCCCACCATCGTGGAGCGGGGCCTGGGCCGGCTTATGCAGATCAAGAACCAGATCAGCCCTTTCATCTCACAGGCAGGCGGCGGGGGCCCCCACCTGCACCATCCAGGCAGCCGGGAGTGGGAGTAGGCCCGGGCCCCCAGACCCTCAAATGCGCACTAACAATTCCCTTTCCTTCCCACCCCTTCTCACTCTGGACTTCTCCCTGGAGGGGATGGGACGGAGCTGTCTTTCCTCCCCCACAGGCAGGACTCAGTGTCCCTGCCCCTGCCCGCTAAATACCCTAGACAGAGCCAGAAAGCACATTCCAGAACCAGGCAACCTGCCTTCAAACCCTCTACACTCACCATGTGACCCAACTGCTGTGTGACCTCAAGCAAATCACTTCACCTCTCTGGGCCTCACCTTCCTTGTCTTGCAAATGGAGATCATGAGAGTGCCCCATGGGTTATTATTATTATTATTCGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCATTGCAACCTCCACCTCGTGGGTTCAAGTGATTCTCGTGCCTCTACCTCCCAAGTAGCTGGGACTACAGACATGTACCACCATGCCCAGCTAATTTTTGTACTTTTTGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAGTACACCCACTTCGACCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCCCATGGGTTATTATTACGATGACAACCCTAAAGCCCCCACAGTGCTGCACACCACCAGCACCACCCACCATGGTGTATGTGCACGTGTGGGTGTGTGCGTGTCCCCTGTGGGGACCTGTGCCTCAGGTGGTAACACTGAGCACTTACTGTGTGCCAGACACTATTCTCAGCACATTATATGCTTCAGCTCATCTGGTACAACAGATCTGGGAGGTAAAGTTTAGAGATGGGGAAACTGAGGCTCCAGGAGGGTCAAGCCCCTTAGCTATGGTTCCCTAAAAATGGCAAAGCTGAGGCCGGCCGCAGTGGCTCATGCCTGTAATCCTAGGACTTCGCAAGGCCGAGGCAGGTGGATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGAAACCCCACCAGTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGCGGTTGCAGTGAGCCAAAATCACGCCATTGTACTCCAGCCTGGGCAACAGAGTGAGACTCCATTTCAAAAAAAAAAAAAAAAGAAAGAAAGAAATGGAAAAGCTAGTATTTGACCAACCCCAGGAATCTGCTTATGGGCCTGAGCCTTTAACCACTGGGAGGTATCAGGAGTCATCCCTCGGGTGTTTAGTGAACCCCCAACCCAGGAGGTCGCCGCAGGTAAGCTATGAGCCCTCCCACATCCCCCCTGCAGATGTGCAACATGCTGGGCCTGGGGGACATGAACGCAGACCAGCTGGCCTCCAAGCTGGAGGAGACGCTGCCCGTCATCCGCTCAGTCAGCGAACAGTTCAAGGACCCTGTGAGTGGTGGTCTGGCTGGCGGTGAGAGGCCCGGGGGCTGAGGACAGGGGCAGACCCCGCCCCTCACTGTCCTCTCTCGTGCCCTGTAGGAGCAGACAACTTTCATCTGCGTATGCATTGCTGAGTTCCTGTCCCTGTATGAGACAGAGAGGCTGATCCAGGAGCTGGCCAAGTGCAAGATTGACACACACAATATAATTGTCAACCAGCTCGTCTTCCCCGACCCCGAGAAGCCCTGCAAGATGTGTGAGGCCCGTCACAAGATCCAGGCCAAGTATCTGGACCAGGTGTGCCCACCCACCCAGCACTGGCTCAGCAGAGGCACCTCTGCCCCTTTATTCTCTGATCTTTTGCTCCACCATCTGGCCCTCTGCCCTCTA 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ACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAGGCTCCGCCCCCTGGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTAACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGCATGGTGGGGCATGCCTATAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGTGATGAGCTGAGATCGCGCCACTGCACTCCAGCCTAGGCAACAAGATCAAAACTCCATCTCGGGAAAAAAAAAAAAAAAAGAGGGAGGCATTGAGTCTGAGACTGGCCAGGGACCCCAGCCATGGCCATCCCTTCATAGATTCTACATACATGTTTGTGTTTTGTTTTGTTGTTTGTTTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGCTGGAGTGTAATGGCGTGATCTCGGCTCACTGTAACCTCTGCCTCCCGGGTTCAAGCGATTCCCCTGCCTCAACCTCCAGAGTAGCTGGGATTATAGGCACCCGCCACTATGCATGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGCCTCAAGCTCCCGACCTCAGGTGATCTGCCCGCCTCCGCTTCCCAAAGGGCTGGAATTACAGGCATGAGGTACCGCGCCTGGCTGGATTCCCCATATGTGCTGACGACCTCTGTGCCAGGCACTGTTCATGCTAAGCGCTAAGGACACAGCAGTGAACTAGATGGTAAAACCCCTGCCCCTGAGGGGCAGACATTCCTGCTATGGAGACAGATGATAAACATGATAAGGGAATCATGAGGGATGTGAGGAAGGGCTAATTTTTTTTTCAGATAGGTCTTGCTATATTGCCCAGGCTGGTGTCCAACTCCTGGGCTCAAGCGATCCTCCCATCTCATTCTCCTGAGTACCTGGGACTACAGGCGTGAGCTATCCTGCCCAGCTCCTAAGGGCTAAACCTTAAGGAGAAAGGAAGGCAGGGCAGGGGTGTCGGTGGATCTGTGCTGTTACTTAGGGTGGTCAGGGAGTCTCTCAGTGGAGGGATGATGATCCGGAAGAGGTCATGGCCCAGTCATGGGAGTATCTGGGGTTGCAAGTGGCAGGTTGCAAGTGGGGAGTAGCAGTGTAAATGGCCCGCAGTGGGTTTCAGCTTCCCTTTGAGGGCCCTGGGCACAGCTTGCAATTTTCCCCTTGTTTTTGACCCTTTATGCAACCATACAAAACCCTAAGTACTACCTCAGGGTCCCCCCAGCCGTGACCTAATGAAATGCCTGTGGTCACAGCCCACCACAGGCTCCCTCTGGCCCTGTGCCCGGGTAGGAAGGCTCCCCCTGGCCCTGTGCCCAGGTGGGAAGGCTCCCCCAGCAGTAGCAGCAACCTCAGTCTCATCCCTTTGGCCCCCAGGAGATTGACCCCAGCCTGGGCGTGGCGGAGCTGCCTGACGAGTTCTTCGAGGAGGACAACATGCTGAGCATGGGCAAGAAGATGATGCAGGAGGCCATGAGCGCATTTCCCGGCATCGATGAGGCCATGAGCTATGCCGAGGTCATGAGGTCAGGCCCAGCCAGCAGGGGTGGGGGCTGCCTGGGGAAGGGGAAGAGCGGACACAGAGGGCCTGACCCCTGTCTCCCCTCAGGCTGGTGAAGGGCATGAACTTCTCGGTGGCGGTATTTGACACGGCACCCACGGGCCACACCCTGAGGCTGCTCAACTTCCCCACCATCGTGGAGCGGGGCCTGGGCCGGCTTATGCAGATCAAGAACCAGATCAGCCCTTTCATCTCACAGGCAGGCGGCGGGGGCCCCCACCTGCACCATCCAGGCAGCCGGGAGTGGGAGTAGGCCCGGGCCCCCAGACCCTCAAATGCGCACTAACAATTCCCTTTCCTTCCCACCCCTTCTCACTCTGGACTTCTCCCTGGAGGGGATGGGACGGAGCTGTCTTTCCTCCCCCACAGGCAGGACTCAGTGTCCCTGCCCCTGCCCGCTAAATACCCTAGACAGAGCCAGAAAGCACATTCCAGAACCAGGCAACCTGCCTTCAAACCCTCTACACTCACCATGTGACCCAACTGCTGTGTGACCTCAAGCAAATCACTTCACCTCTCTGGGCCTCACCTTCCTTGTCTTGCAAATGGAGATCATGAGAGTGCCCCATGGGTTATTATTATTATTATTCGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCATTGCAACCTCCACCTCGTGGGTTCAAGTGATTCTCGTGCCTCTACCTCCCAAGTAGCTGGGACTACAGACATGTACCACCATGCCCAGCTAATTTTTGTACTTTTTGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAGTACACCCACTTCGACCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCCCATGGGTTATTATTACGATGACAACCCTAAAGCCCCCACAGTGCTGCACACCACCAGCACCACCCACCATGGTGTATGTGCACGTGTGGGTGTGTGCGTGTCCCCTGTGGGGACCTGTGCCTCAGGTGGTAACACTGAGCACTTACTGTGTGCCAGACACTATTCTCAGCACATTATATGCTTCAGCTCATCTGGTACAACAGATCTGGGAGGTAAAGTTTAGAGATGGGGAAACTGAGGCTCCAGGAGGGTCAAGCCCCTTAGCTATGGTTCCCTAAAAATGGCAAAGCTGAGGCCGGCCGCAGTGGCTCATGCCTGTAATCCTAGGACTTCGCAAGGCCGAGGCAGGTGGATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGAAACCCCACCAGTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGCGGTTGCAGTGAGCCAAAATCACGCCATTGTACTCCAGCCTGGGCAACAGAGTGAGACTCCATTTCAAAAAAAAAAAAAAAAGAAAGAAAGAAATGGAAAAGCTAGTATTTGACCAACCCCAGGAATCTGCTTATGGGCCTGAGCCTTTAACCACTGGGAGGTATCAGGAGTCATCCCTCGGGTGTTTAGTGAACCCCCAACCCAGGAGGTCGCCGCAGGTAAGCTATGAGCCCTCCCACATCCCCCCTGCAGATGTGCAACATGCTGGGCCTGGGGGACATGAACGCAGACCAGCTGGCCTCCAAGCTGGAGGAGACGCTGCCCGTCATCCGCTCAGTCAGCGAACAGTTCAAGGACCCTGTGAGTGGTGGTCTGGCTGGCGGTGAGAGGCCCGGGGGCTGAGGACAGGGGCAGACCCCGCCCCTCACTGTCCTCTCTCGTGCCCTGTAGGAGCAGACAACTTTCATCTGCGTATGCATTGCTGAGTTCCTGTCCCTGTATGAGACAGAGAGGCTGATCCAGGAGCTGGCCAAGTGCAAGATTGACACACACAATATAATTGTCAACCAGCTCGTCTTCCCCGACCCCGAGAAGCCCTGCAAGATGTGTGAGGCCCGTCACAAGATCCAGGCCAAGTATCTGGACCAGGTGTGCCCACCCACCCAGCACTGGCTCAGCAGAGGCACCTCTGCCCCTTTATTCTCTGATCTTTTGCTCCACCATCTGGCCCTCTGCCCTCTA 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Task1_train_26564 | A genomic change on Chromosome 19 affects LOC117038795, RNASEH2A (CRISPRi-FlowFISH-validated PRDX2 regulatory element 4| ribonuclease H2 subunit A). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Aicardi-Goutieres syndrome 4 | ATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATATAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCCTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAACCAACCAAACAAACAAACAAACAAAAACATTTAAGTTAGATGAGCGTGGCGGCACATGCCTGTGGTCCCAGCTACTCGGTACGATGGGGAGGAAGGATCGCTTGAGCCTGGGAGGCAAAGGTTACAATAAGCCGAGATCGCTACACTGCTATCCAGCCTGGGCAACAGAGTAACATCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTGGAGGGGGAGGCGAAGAGGAGTAAAAGGAGATAAAGAGACAATGAACTAGGACCCTGAGGAAGGGGCATGAGCCTGGTAAGGGGCGGGAACCCACAGGCAGAGGACATGAGCCCCAGTGAGCCCAGGGAATAGAAGTGGTGGATGCCAGGCACTGTGGCTGGCTCAGGCTTGTAATCCCAACACTTTGGGAGGCTGAGGCGACCGGATCGCTTGAGCCCAGGAGTTTGAAGCCAGCCTGGGCAACATAATGAGACCCCGTCTCTACAAAAAATACCAAAAATAGTCGGGCATGGTGGTGTGGTGTGCACCTGTAGTCCAGCTGCTTGGGAGACTGAGGTGGGAGGATCGCGTCAGCCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGACAACAGAGAGAGACCCTGTCTAAAAAAAAAAGAAGGCCGGGTGCGGTGGCTCACGCCTGCAATCCCAACACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAAATCGAGACCAACCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAAGTACAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTATTCGGGAGACTGAGGCAGGAGAATGGCGTGAACCCGGGACGCGGAGCTTGCAGTGAGCGGAGATGGCGCCATTGCACTCCAGCCTGGGCGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAGAAAAAAAAAAAGTGGGTCGAGGGGTGGGGGTGGGGACATTCATTCTAAGTTGGGAGGAATGAGCTTCTATAGGGAGCAGAGACCCTGAGCAGGAGTCCACCGAGGTCTGTGATCTCCAACGGGGGTGGGGAAGGCTTGGCCTGAATGAGACAGAGGTTAGGAAGCACAGATCTTGCACGGAGTGGAGGTGGGCCGAAGGGAGCAACCAAGAGAGGGAGTTTGGGGACTCCAAATCCAAAAGCCTGGGTTTAGTGGAAGCGGGGCTACCTGGTCCAGGGGACTTAGAATGTGTACAGAAGCAGGGACCGCAAGTACAGGGCCTGAATCCAAGTGGCAGTTGGGGACCCAGTGATGCGGTGACCCGTGTCCTGGGAGTGGGGTGATATTTGACTCTCTAGTTCCCCGTTAGGCTGGGTCTTCGAAGCTACGTCTCAGTTTCCCTCTTATTTCCCCCTCTTCCCACCGGGCCACGCAGGCGGGGCCCCAGAGACCGTGAAGCAGAGCTTGCAAAGTGACCCCGTCCACCGAATTCCCCAAGCTGAGTGTTCGGCCATAGCCCTTCGGGACTACAATTCCCAGGAGGGCGCACGGCAGCGACGTCGGCGTCGGCTGCGTAAGCGTCCACGGCGGCGGGAGCGCCAGGGGCGTGTTCTGCCCGCGGATTGGCCGGAAGCAGGCGCCGCTTCGAGGCCCGCGGAAAACGCGCGCCGAGACCCGCTCCTGCAGTATTAGTTCTTGCAGCTGGTGGTGGCGGCTGAGGCGGCATGGATCTCAGCGAGCTGGAGAGAGACAATACAGGCCGCTGTCGCCTGAGTTCGCCTGTGCCCGCGGTGTGCCGCAAGGAGCCTTGCGTCCTGGGCGTCGATGAGGCGGGCAGGGGCCCCGTGCTGGGTGCGCCCCTAGGGCCAGGGAGGGGAGGGGCGTGGTACGGAGGATGCGGGAAACGGGAGTCGGGATTGCACTGCACCAAGGGAGGGGATGTGGTCGTGGTGATGGCACCTAAAGAAGCAGTGATGATAGAACAGGGATGAATGGCAACTTTCACGGGCTCAGTGATTGGACCCCGGCTGCCAGAAAACTGACACCCCTTCTCCCCAGGCCCCATGGTCTACGCCATCTGTTATTGTCCCCTGCCTCGCCTGGCAGATCTGGAGGCGCTGAAAGTGGCAGGTGAGCCCGAGGTGTGCGTCTGGGGAAGGGATTCCTGGGTATGTGCAGGGGCAGGTGAGAACTGAAAGGGGAGGGCAGGAACTGGGAGAACCAGCTGTTCCCCTTCTCTTCCAAACCTCCTCCCAGACTCAAAGACCCTATTGGAGAGCGAGCGGGAAAGGCTGTTTGCGAAAATGGAGGACACGGACTTTGTCGGCTGGGCGCTGGATGTGCTGTCTCCAAACCTCATCTCTACCAGCATGCTTGGGCGGTGAGGGGTCCCCGGGAGGGGCAGCCAGCATGGGCTGACCAAGCTTTGTTCCTAGAATGAGATTAACTGGGCTCTGTTCCCCACCACAGGGTCAAATACAACCTGAACTCCCTGTCACATGATACAGCCACTGGGCTTATACAGTATGCATTGGACCAGGGCGTGAACGTCACCCAGGTGAGTTAACTGTAAGTTGTCCCCATTTGGTCATCTCAGGATAAAATGGGGACAAAACAGGAGTTCGAGACTGCAGTGAGCCATGATCATGCCACAGCACTCCATCCTGGGTGACAAAGGAAGCCCCCCAACTCAAAAATGGAGGCAGGGCGCAGTGGCTCACGCCTATAATCGCAGCACTTTGGGAAGCCGCGGCGGGTAGATCACCGGAGGTCAAGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGACGTGGTGGCAGGCGCCTGTAATCCTAGCTACTCAGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATTGTGCCATTGCACTCCAACCCGGGCAACAGAGCAAGACCCTGTCTCAAAAAAATAAAAAATAAAAAATAAACTAAAAATGGGAGACCAGGCGCAGTGGCTCACGGCTGTAATCCCAGCGTTTCAGGAGGCTGAGGCAGGCAGATCACCTGAGGTCAGGAGTTGAAGACCATCCTGGCCAACATGGTGAAACCTCATCTCTACTGAAAATACAAAAAATTAGCCCAGCATGGTGGCGGGTGCCTGTAATCCCACCTATTGGTGAGGCCGAGGCAGAAGAATTGCTCGAACCCGGGAGGCGGAGGTTGCAGTGAGGTGAGATCGCGCCATTGCACTCCAGCCTGGGGGACAGAGCGAAAAATAAAAATAAAAATAAAATAAAAAATAAATGTGGGCAAAAATGTGCAGTGTGCAGATTCAGCATCAGATACGTCTGGAGTGCCTCGGGCATATTCATTGCTACTGTTGATTTCGTGCTCCTGTTTCTGCCCTAAATGTGTGCCACACTGACGACCACAGTGTAGCCCCTAGTCCCGTCTCCATCTAATCTCTCCCTCATCCTAAAGGCTCAGTCTCCAGAACAAATCCTACATTGTCTACCTGTCACCTCTGTCCTAGCCCAGGACACCCCCCACTCCCTGGACACCTGCTGAGTGTCGTCTCTCGTCCCTCACCCTCCTATCCCCTCCAATCTGTTCCCCAAGCAGCAACAGAAGGTAGTCTTTTTGAAATGCACATCTCGACATTTAGTTTTCCGATCACAGTGGAAATTAAATCAGGAAAATTCACAGTCGAGTGGGGCAGAATTACATTAAATTACCAGAGAAAAACATAAATCAGCATTGCCTCGAATGCTCTCAATGAAAGAATGGACCGTTCTGAGAGAATAACAAGGCAAAATAACCTTGACGTAGGAATTGTATGCTGGGTATGGTGGCTCACGCCT 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ATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATATAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCCTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAACCAACCAAACAAACAAACAAACAAAAACATTTAAGTTAGATGAGCGTGGCGGCACATGCCTGTGGTCCCAGCTACTCGGTACGATGGGGAGGAAGGATCGCTTGAGCCTGGGAGGCAAAGGTTACAATAAGCCGAGATCGCTACACTGCTATCCAGCCTGGGCAACAGAGTAACATCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTGGAGGGGGAGGCGAAGAGGAGTAAAAGGAGATAAAGAGACAATGAACTAGGACCCTGAGGAAGGGGCATGAGCCTGGTAAGGGGCGGGAACCCACAGGCAGAGGACATGAGCCCCAGTGAGCCCAGGGAATAGAAGTGGTGGATGCCAGGCACTGTGGCTGGCTCAGGCTTGTAATCCCAACACTTTGGGAGGCTGAGGCGACCGGATCGCTTGAGCCCAGGAGTTTGAAGCCAGCCTGGGCAACATAATGAGACCCCGTCTCTACAAAAAATACCAAAAATAGTCGGGCATGGTGGTGTGGTGTGCACCTGTAGTCCAGCTGCTTGGGAGACTGAGGTGGGAGGATCGCGTCAGCCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGACAACAGAGAGAGACCCTGTCTAAAAAAAAAAGAAGGCCGGGTGCGGTGGCTCACGCCTGCAATCCCAACACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAAATCGAGACCAACCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAAGTACAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTATTCGGGAGACTGAGGCAGGAGAATGGCGTGAACCCGGGACGCGGAGCTTGCAGTGAGCGGAGATGGCGCCATTGCACTCCAGCCTGGGCGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAGAAAAAAAAAAAGTGGGTCGAGGGGTGGGGGTGGGGACATTCATTCTAAGTTGGGAGGAATGAGCTTCTATAGGGAGCAGAGACCCTGAGCAGGAGTCCACCGAGGTCTGTGATCTCCAACGGGGGTGGGGAAGGCTTGGCCTGAATGAGACAGAGGTTAGGAAGCACAGATCTTGCACGGAGTGGAGGTGGGCCGAAGGGAGCAACCAAGAGAGGGAGTTTGGGGACTCCAAATCCAAAAGCCTGGGTTTAGTGGAAGCGGGGCTACCTGGTCCAGGGGACTTAGAATGTGTACAGAAGCAGGGACCGCAAGTACAGGGCCTGAATCCAAGTGGCAGTTGGGGACCCAGTGATGCGGTGACCCGTGTCCTGGGAGTGGGGTGATATTTGACTCTCTAGTTCCCCGTTAGGCTGGGTCTTCGAAGCTACGTCTCAGTTTCCCTCTTATTTCCCCCTCTTCCCACCGGGCCACGCAGGCGGGGCCCCAGAGACCGTGAAGCAGAGCTTGCAAAGTGACCCCGTCCACCGAATTCCCCAAGCTGAGTGTTCGGCCATAGCCCTTCGGGACTACAATTCCCAGGAGGGCGCACGGCAGCGACGTCGGCGTCGGCTGCGTAAGCGTCCACGGCGGCGGGAGCGCCAGGGGCGTGTTCTGCCCGCGGATTGGCCGGAAGCAGGCGCCGCTTCGAGGCCCGCGGAAAACGCGCGCCGAGACCCGCTCCTGCAGTATTAGTTCTTGCAGCTGGTGGTGGCGGCTGAGGCGGCATGGATCTCAGCGAGCTGGAGAGAGACAATACAGGCCGCTGTCGCCTGAGTTCGCCTGTGCCCGCGGTGTGCCGCAAGGAGCCTTGCGTCCTGGGCGTCGATGAGGCGAGCAGGGGCCCCGTGCTGGGTGCGCCCCTAGGGCCAGGGAGGGGAGGGGCGTGGTACGGAGGATGCGGGAAACGGGAGTCGGGATTGCACTGCACCAAGGGAGGGGATGTGGTCGTGGTGATGGCACCTAAAGAAGCAGTGATGATAGAACAGGGATGAATGGCAACTTTCACGGGCTCAGTGATTGGACCCCGGCTGCCAGAAAACTGACACCCCTTCTCCCCAGGCCCCATGGTCTACGCCATCTGTTATTGTCCCCTGCCTCGCCTGGCAGATCTGGAGGCGCTGAAAGTGGCAGGTGAGCCCGAGGTGTGCGTCTGGGGAAGGGATTCCTGGGTATGTGCAGGGGCAGGTGAGAACTGAAAGGGGAGGGCAGGAACTGGGAGAACCAGCTGTTCCCCTTCTCTTCCAAACCTCCTCCCAGACTCAAAGACCCTATTGGAGAGCGAGCGGGAAAGGCTGTTTGCGAAAATGGAGGACACGGACTTTGTCGGCTGGGCGCTGGATGTGCTGTCTCCAAACCTCATCTCTACCAGCATGCTTGGGCGGTGAGGGGTCCCCGGGAGGGGCAGCCAGCATGGGCTGACCAAGCTTTGTTCCTAGAATGAGATTAACTGGGCTCTGTTCCCCACCACAGGGTCAAATACAACCTGAACTCCCTGTCACATGATACAGCCACTGGGCTTATACAGTATGCATTGGACCAGGGCGTGAACGTCACCCAGGTGAGTTAACTGTAAGTTGTCCCCATTTGGTCATCTCAGGATAAAATGGGGACAAAACAGGAGTTCGAGACTGCAGTGAGCCATGATCATGCCACAGCACTCCATCCTGGGTGACAAAGGAAGCCCCCCAACTCAAAAATGGAGGCAGGGCGCAGTGGCTCACGCCTATAATCGCAGCACTTTGGGAAGCCGCGGCGGGTAGATCACCGGAGGTCAAGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGACGTGGTGGCAGGCGCCTGTAATCCTAGCTACTCAGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATTGTGCCATTGCACTCCAACCCGGGCAACAGAGCAAGACCCTGTCTCAAAAAAATAAAAAATAAAAAATAAACTAAAAATGGGAGACCAGGCGCAGTGGCTCACGGCTGTAATCCCAGCGTTTCAGGAGGCTGAGGCAGGCAGATCACCTGAGGTCAGGAGTTGAAGACCATCCTGGCCAACATGGTGAAACCTCATCTCTACTGAAAATACAAAAAATTAGCCCAGCATGGTGGCGGGTGCCTGTAATCCCACCTATTGGTGAGGCCGAGGCAGAAGAATTGCTCGAACCCGGGAGGCGGAGGTTGCAGTGAGGTGAGATCGCGCCATTGCACTCCAGCCTGGGGGACAGAGCGAAAAATAAAAATAAAAATAAAATAAAAAATAAATGTGGGCAAAAATGTGCAGTGTGCAGATTCAGCATCAGATACGTCTGGAGTGCCTCGGGCATATTCATTGCTACTGTTGATTTCGTGCTCCTGTTTCTGCCCTAAATGTGTGCCACACTGACGACCACAGTGTAGCCCCTAGTCCCGTCTCCATCTAATCTCTCCCTCATCCTAAAGGCTCAGTCTCCAGAACAAATCCTACATTGTCTACCTGTCACCTCTGTCCTAGCCCAGGACACCCCCCACTCCCTGGACACCTGCTGAGTGTCGTCTCTCGTCCCTCACCCTCCTATCCCCTCCAATCTGTTCCCCAAGCAGCAACAGAAGGTAGTCTTTTTGAAATGCACATCTCGACATTTAGTTTTCCGATCACAGTGGAAATTAAATCAGGAAAATTCACAGTCGAGTGGGGCAGAATTACATTAAATTACCAGAGAAAAACATAAATCAGCATTGCCTCGAATGCTCTCAATGAAAGAATGGACCGTTCTGAGAGAATAACAAGGCAAAATAACCTTGACGTAGGAATTGTATGCTGGGTATGGTGGCTCACGCCT 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Task1_train_26565 | Gene RNASEH2A (ribonuclease H2 subunit A), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Aicardi-Goutieres syndrome 4 | AGGTAGGAGAACCGCTTGAGTCCTCGAGTTCAAGACCAGCCTGGGCAACATAGCGAGACCCCCATCTCTATAAAAAATTTAAAAAATTAGCCGGTTATAGTGGTGCCCACCTGTAGTCCCAGCTACTCTGGAGGAGGAGGCTAAGGTGGGTGGGTTGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATTATGCCACTGCACTCCAGCCTTGGTGACAAGATGAGATCTTGTGTCAAAAAAAAAAATAATGTTAGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGGACTTTGGGAGGCTGAGGCAGGTGGATCCTTTGAGGTCAGGAGTTCTAGACCAGCCTGACCAACGTGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGACGTGGTGGCACACGCCCGTAATCCCAGCAACTCGGGAGGCTGAGGCAGGAGAATTACTTAAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCATAATTGCACTCCAGCCTGGGAAATGAGCAAAATTCCATCTCAAAATAATAATAATAATAATAATAATAATATTTAATGACAGGCTGGGCCAGGTGGCTCATGCCCGTAATCCTAGCATTTTAAGAGACAGAGGCAGGTAGATCATGTGAACTCAGGAATTCACAACCAGCCTGGGCAATATGACAAGACCCCATCTCTACAAAAAATACAAAAATTAGGTGTGGTGGTGCGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGAGAGGATGGCTTGAGCCTGGGAGGCAGAGGTTGCATTGAGCTGTGATAATGTCACTGCACTCCAGCCTGGGTAATAGAGCGAGACCCTATCTCAAAAAAATAAAAAGGCTGGGTGTGGTGTTTACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCTGTCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTATGGTGGTGGGTGGCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTACAGCCTGGGTGACAGAGCAAGACTCCATTTCAAAAAATAAGTAAATAAAATAAAAATGTTTAATGACTTGTTCTTGGAGGTCAAGGAGATGTCTCAGAGGCAGTCTCCCTGCACTGCCCTTTTAGCAGCTCTTGGCCAGGTAAAGGTCCTGTGGCAAGAAGGTGCTTCAGACCATAGGAGGTGCCCCAGGTACTCAGGAGGAAGCCTTAGAAGAGCGGCAAGGAGGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGGGGGTAGATCACGAGGTCAAGCAATTGAGACCATCCTGGCCAACATGGTGAAACCTCGTCACTACTAAAAACACAAAATTTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAATCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGCTACAGAGTGGGACTCCATCTCAAAGAAAAAAAAAAGAGTGGCAGGGAGCTTGAATGTTATGGTGCAACTTGGACTGTCACCATTGCCCACCCTACCCCAGATCCCAAGACAAAAGCGTGGTTGAAGGAGCACGTGGAGCCTGTGTTCGGCTTCCCCCAGTTTGTCCGGTTCAGCTGGCGCACGGCCCAGACCATCCTGGAGAAAGAGGCGGAAGATGTTATATGGTGGGTGTCATGGATGTCCTGGGGGTGCTATAGGGAAGGAAGGAGGGAGGCCAGCGTTCAGCCCTGCCTGAGAGGGTTGCTCCCTGTGTAAGTGGTCACTGTCATCACCTCTCTCCCACAGGGAGGACTCAGCATCCGAGAATCAGGAGGGACTCAGGAAGATCACATCCTACTTCCTCAATGAAGGGTCCCAAGCCCGTCCCCGTTCTTCCCACCGATATTTCCTGGAACGCGGCCTGGAGTCAGCAACCAGCCTCTAGCAGCTGCCTCTACGCGCTCTACCTGCTTCCCCAACCCAGACATTAAAATTGTTTAAGGAGAACCACACGTAGGGGATGTACTTTTGGGACAGAAGCAAGGTGGGAGTGTGCTCTGCAGCCGGGTCCAGCTACTTCCTTTTGGAACCTTAAATAGAATGGGTGTTGGTTGATTAATTTTATTTGGTTTGATTTTTTTCATTTTTAAATTTTATTTATTTTATTTTATTTTATTTTATTTTTTTGAGAGACGAAGTCTCACTCTGTCACCCAGGCTGGAGTAGAATGGGGCAATCTCAGCTCACTGCAACCTCTGCCTTCCAGGTTCAAGCGATTCTCCTGCCTCAATTTCCCAAGCAGCTGGGACTATAGGCGTGTGCCATGCCCAACTAATTTTTTTTTTTTTTTGAGACACAGTCTCCTGTTGCCCAGGCTGGAGTACCATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCTGGTTCAAGCAATTCCCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACACCACCACACCCGGCTAATTTTCTTTTCTTTTCTTTCTTTCTTTTTTTTTTAATTTGAGACAGAGTCTCACTTTGTCACCAGGCTGGAGTGCAGTGATGCAATTTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCACGTAGCTGTGACTACAGGCATGCGCCACCACACTCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCACGTTGGCCAGACTGGTCTTAAACTGCTGACCTCAGGCAATCTGCCCGCCTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTAATTTTTGTATTTTTTAGTAGAGACAAGGTTTCACTATATGTTAGTCAGGCTGCTCTCTACCTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCGACCTTTTTAGTTATATTTTTAATTTTTAAAAATTTTTAAATTTTCTTTCTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCATTGGCTCAATCTTAGCTCACTGTAACCTCTGCCTCCCAGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGTGCCACCAGGCCTGGCTAATTTTTTGTATTTTTAGTAGAAACACGGTTTCACCGTGTTAGCCATGATGGTCTCAATCTTCTGACCTTGTGATCCGTCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCCATGCATTGCCTATTTTTATTTAAAAAATTTTTTGAGACAGAATCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCAGTGTAACCTCCGCCTCCTGGGTTTAAGTGATTCTCCCACCTTAACCTCCTGAGTAGCTGAGGTTCCAGGCACACGCCACGATGCCCAACTAATTTTTGTATTTTTTGTAGAGATGAGGTTTCATCATGTCGCCCAGGCTGGTCTTGTAGTCCTGGGTTCAAGTGATCTGCCCGCTGTGACCTCTCAATGTGTGAGCTACCATACCTGGCTGACTAATATGTAAAATACATGATGTGGCTGGGCGCAGGGGCTCATACATGTAATCCTAGTGCTTTGGAAGGCTGAGTCAGGAGGATCTTGACCAGTCTGGACAACATAGGGTAACAAGAGCGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATGCTGGGCTGCATGGGGGAAGATAAGAAAAAATAAAGAAAGGTCACGAACCAAACAAAAATCTTGGCGGGCAGGGTGCCGTGTGGCTGCAGTCCCAGCTTTTCTGGAGGTTGAGGTAGGCTCCAGCATGGGCGACAGAGCAAGACCATGTCTCAAAAAAAAAAGCATATCTGCGCATTAATGTTTGGAACAAGCTGCATTCTCTCCAGAAGGACCTAGAA 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AGGTAGGAGAACCGCTTGAGTCCTCGAGTTCAAGACCAGCCTGGGCAACATAGCGAGACCCCCATCTCTATAAAAAATTTAAAAAATTAGCCGGTTATAGTGGTGCCCACCTGTAGTCCCAGCTACTCTGGAGGAGGAGGCTAAGGTGGGTGGGTTGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATTATGCCACTGCACTCCAGCCTTGGTGACAAGATGAGATCTTGTGTCAAAAAAAAAAATAATGTTAGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGGACTTTGGGAGGCTGAGGCAGGTGGATCCTTTGAGGTCAGGAGTTCTAGACCAGCCTGACCAACGTGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGACGTGGTGGCACACGCCCGTAATCCCAGCAACTCGGGAGGCTGAGGCAGGAGAATTACTTAAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCATAATTGCACTCCAGCCTGGGAAATGAGCAAAATTCCATCTCAAAATAATAATAATAATAATAATAATAATATTTAATGACAGGCTGGGCCAGGTGGCTCATGCCCGTAATCCTAGCATTTTAAGAGACAGAGGCAGGTAGATCATGTGAACTCAGGAATTCACAACCAGCCTGGGCAATATGACAAGACCCCATCTCTACAAAAAATACAAAAATTAGGTGTGGTGGTGCGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGAGAGGATGGCTTGAGCCTGGGAGGCAGAGGTTGCATTGAGCTGTGATAATGTCACTGCACTCCAGCCTGGGTAATAGAGCGAGACCCTATCTCAAAAAAATAAAAAGGCTGGGTGTGGTGTTTACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCTGTCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTATGGTGGTGGGTGGCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTACAGCCTGGGTGACAGAGCAAGACTCCATTTCAAAAAATAAGTAAATAAAATAAAAATGTTTAATGACTTGTTCTTGGAGGTCAAGGAGATGTCTCAGAGGCAGTCTCCCTGCACTGCCCTTTTAGCAGCTCTTGGCCAGGTAAAGGTCCTGTGGCAAGAAGGTGCTTCAGACCATAGGAGGTGCCCCAGGTACTCAGGAGGAAGCCTTAGAAGAGCGGCAAGGAGGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGGGGGTAGATCACGAGGTCAAGCAATTGAGACCATCCTGGCCAACATGGTGAAACCTCGTCACTACTAAAAACACAAAATTTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAATCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGCTACAGAGTGGGACTCCATCTCAAAGAAAAAAAAAAGAGTGGCAGGGAGCTTGAATGTTATGGTGCAACTTGGACTGTCACCATTGCCCACCCTACCCCAGATCCCAAGACAAAAGCGTGGTTGAAGGAGCACGTGGAGCCTGTGTTCGGCTTCCCCCAGTTTGTCCGGTTCAGCTGGCGCACGGCCCAGACCATCCTGGAGAAAGAGGCGGAAGATGTTATATGGTGGGTGTCATGGATGTCCTGGGGGTGCTATAGGGAAGGAAGGAGGGAGGCCAGCGTTCAGCCCTGCCTGAGAGGGTTGCTCCCTGTGTAAGTGGTCACTGTCATCACCTCTCTCCCACAGGGAGGACTCAGCATCCGAGAATCAGGAGGGACTCAGGAAGATCACATCCTACTTCCTCAATGAAGGGTCCCAAGCCCGTCCCCGTTCTTCCCACCGACATTTCCTGGAACGCGGCCTGGAGTCAGCAACCAGCCTCTAGCAGCTGCCTCTACGCGCTCTACCTGCTTCCCCAACCCAGACATTAAAATTGTTTAAGGAGAACCACACGTAGGGGATGTACTTTTGGGACAGAAGCAAGGTGGGAGTGTGCTCTGCAGCCGGGTCCAGCTACTTCCTTTTGGAACCTTAAATAGAATGGGTGTTGGTTGATTAATTTTATTTGGTTTGATTTTTTTCATTTTTAAATTTTATTTATTTTATTTTATTTTATTTTATTTTTTTGAGAGACGAAGTCTCACTCTGTCACCCAGGCTGGAGTAGAATGGGGCAATCTCAGCTCACTGCAACCTCTGCCTTCCAGGTTCAAGCGATTCTCCTGCCTCAATTTCCCAAGCAGCTGGGACTATAGGCGTGTGCCATGCCCAACTAATTTTTTTTTTTTTTTGAGACACAGTCTCCTGTTGCCCAGGCTGGAGTACCATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCTGGTTCAAGCAATTCCCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACACCACCACACCCGGCTAATTTTCTTTTCTTTTCTTTCTTTCTTTTTTTTTTAATTTGAGACAGAGTCTCACTTTGTCACCAGGCTGGAGTGCAGTGATGCAATTTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCACGTAGCTGTGACTACAGGCATGCGCCACCACACTCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCACGTTGGCCAGACTGGTCTTAAACTGCTGACCTCAGGCAATCTGCCCGCCTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTAATTTTTGTATTTTTTAGTAGAGACAAGGTTTCACTATATGTTAGTCAGGCTGCTCTCTACCTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCGACCTTTTTAGTTATATTTTTAATTTTTAAAAATTTTTAAATTTTCTTTCTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCATTGGCTCAATCTTAGCTCACTGTAACCTCTGCCTCCCAGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGTGCCACCAGGCCTGGCTAATTTTTTGTATTTTTAGTAGAAACACGGTTTCACCGTGTTAGCCATGATGGTCTCAATCTTCTGACCTTGTGATCCGTCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCCATGCATTGCCTATTTTTATTTAAAAAATTTTTTGAGACAGAATCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCAGTGTAACCTCCGCCTCCTGGGTTTAAGTGATTCTCCCACCTTAACCTCCTGAGTAGCTGAGGTTCCAGGCACACGCCACGATGCCCAACTAATTTTTGTATTTTTTGTAGAGATGAGGTTTCATCATGTCGCCCAGGCTGGTCTTGTAGTCCTGGGTTCAAGTGATCTGCCCGCTGTGACCTCTCAATGTGTGAGCTACCATACCTGGCTGACTAATATGTAAAATACATGATGTGGCTGGGCGCAGGGGCTCATACATGTAATCCTAGTGCTTTGGAAGGCTGAGTCAGGAGGATCTTGACCAGTCTGGACAACATAGGGTAACAAGAGCGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATGCTGGGCTGCATGGGGGAAGATAAGAAAAAATAAAGAAAGGTCACGAACCAAACAAAAATCTTGGCGGGCAGGGTGCCGTGTGGCTGCAGTCCCAGCTTTTCTGGAGGTTGAGGTAGGCTCCAGCATGGGCGACAGAGCAAGACCATGTCTCAAAAAAAAAAGCATATCTGCGCATTAATGTTTGGAACAAGCTGCATTCTCTCCAGAAGGACCTAGAA 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Task1_train_26566 | A variant was discovered in gene LOC117125587, MAST1 (CRISPRi-FlowFISH-validated KLF1 and PRDX2 regulatory element| microtubule associated serine/threonine kinase 1), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | TGGGATTACAGGCGTGAGCCACCGAGCCCTGCCCTCAGTCCCAGAACTTTGAGAGGCCAAAGTGGGAGTATTGCTTGAAGCCAGGAGTTGGAAGCCAGCCTGGGCAACATAGAGAGACCCTGTCTCTGCAAAAAAGAATTAGCCAAGCATGGTGTAGTCCCAGCTACACAGAAGGCAGAGGGGGGAAGATTACTTTAGCCCAGGAGTTCAAGGCTTCCGTGAGCCATGATTGTACTACATCCCTCTAGCCTGGGTGACACAAGGAGACCGTGTCTCTCTCTCTTTTTAACTTTAAATAATTTTAATAAATAGAGACACAGTTTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAATGATCCTCCCGCCTTCGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGTCACCATATTCAGTGGAGACCCTTCTCTAAAATAATAATGATAATAAAGCAAGAGGAAACAAGATAGAGTAGGGATAGGGAATAATGGGTGTGTATTCAGAGGAGGTCTTCCCGAGGGGTGACATTGAAGCAAAAATTTGAAGGATGAGAAGGAGGGATCCATAGTAGATGTGTTCCAAGCAGAAAGAATAGCTAATGCAAAGGCCCTGAGGAAGGAGCTTGCCTGGCTTGTCCAAGGACCATCAAGGAGGCCACTAGGCTGGGTGCGGTGGCTTGTGCCTGTAATCTCAGCACTTTGGGAGGCAGAGGCAGGTGGATCACCTGATGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACACTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGACAGGCACCTGTAATCCCAGCTACTTAGGAGGCTGAGTCAGGAGAATCGCTTGAACGCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACACTCCAAACTAGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAGGCCACTGTAGCTGGAGCAGAGGAAGTAAGCAGGAGAGTGAGAAAAATCCACGGCAGGGACCCAGGGCAGGATGAGGCAGGACCTTGTATAACTGGGGAAGGACTTGGGTGTTCACCCTGAGTAAGGTGGGAGCCACCAAGGGTTCTGAACAGAGGAGGCTCATGACTTGACCCAAGCTTTAACAGACTCACTGTCTCCACCCCTGTCTGTCCCTGTCCACCTGTCTGTGGCCAAGAGTCCCAGCCAAGATCCTAGGATCCAAGGATCGTAAATCAGGTCCTGATCCTGGCCTTGCCCAGTGACCCCATCGGCTTTGGGAGTCCCAGCTCAGGGTCCTGAGCTGTTGGGGGGCCCATGGTGGCTCTGACCCCGGCCCTGCCCCTGTCCCCAGTCCTCCTGCTCCTCCCAGGAGCGCCTTCACCAGCTGCCCTACCAGCCCACGGTGGACGAGCTCCACTTCCTCTCCAAACACTTCGGGAGCACCGAGAGCATCACAGACGAGGATGGTGGCCGTCGCTCCCCAGCCGTGCGGCCCCGCTCACGGAGCCTCAGGTGGGCAGGCATCCCTCCTCCTTCGTACCAAGCTAGTGGTCTTAGGACTTGTGCTTAGAGAGACCCCTGTCCCCGCGAATAAAAGGGTTACATCTTGGGGCGGGGGCTCTCTGCGGGCTTGGAGGCAGAGGACTCGACAAAATGGGCTTCTCTCCCCGCAGCCCCGGGCGCTCCCCCTCCTCCTACGACAACGAGATCGTGATGATGAATCACGTCTACAAGGAGAGGTTCCCGAAGGTGAGGTGGGACCCGAGGCGGTCACGGGGTGACCAGGCGGCCTGCACTCTCGCTCGCCTTATCCCCGCGCGCCCCCTGGCGGCCTCGGTGCGCAGCGCAGGCTCCTGGCGGCCGCAGCCTTCGGGCACAGCCCCGCGCCCCTCCTCCGTCCCTCCCGCAGGCCACTGCGCAGATGGAGGAGAAGCTGCGCGACTTTACCCGCGCCTACGAACCCGACAGCGTTCTGCCTCTGGCCGATGGCGTGCTCAGCTTCATCCACCACCAGATCATCGAGCTGGCCCGGGACTGCCTGACCAAGTCCCGTGACGGCCTCATCACCACGGTCTACTTCTATGAATTGCAGGAGAACCTGGAGAAGCTCCTTCAAGACGTGAGTGCACGCGGAGGCCGGGCTGATCTCAGGCTCAGCACCGCCAGATTGTGCCCAATGCACCCCTTTCTTCACCCCACATACATTCAGGGAGCTCCTACCACGTTCCAGGCACTGGCGTGGAGCTGAGGACTCAGGGGTGGAAGTGGTCCCTTCCCTAGGTCTGACCGACTGAAGAGGCAGGAATTTCACCTCGCTCATTTCCCTTAGGTCTTTACTCAAATGTCACCTTTTCAGGTGGCTTCTTAGGCGGTCCCCAGTCATTTAAAATATTAAACTCGGCCGGGCTCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGGGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCTGGCTAACACGGTGACACCCCGTCTCTACTAAAAACACACACACACACAAAATTAGCCGGGCGTGGTGGCGGACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTAAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCGCTGTACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAATAATAATAGTAAATAAAATAAAATAAAATAAAATATTAAACTTAGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAAGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAATCCCAACTACTTGGGAGGCAGAGGCGGGAGAATCGCTTGAACCTGGGAGTCGGAGGTTGCGGTGAGCCGAGATCACACCATTGCACTCCAGTCTGAGCAACAAGAGTGAAACTCTGTCTCAAAAATAAATAAATAAATGAAATAAAATAAAATATTAAACTCTACTCACATTTATCACCCACTTTCTCCTCAGTTTCTCCTTGACACTCAGCACCATCCATCATACTGTGTATTTTTGCTTATTTTATTTCATGTCTATCCTTCTCCAATGTCAGCCCCATAGTTGGTGAGGGTGGGGGGGTGGAGTTGTCTGTTCTGTCCACTGCTGTGTCCCTGCTGTTTGGAACAATACCCAGCACACAGTAGGTACTCAATAAATGTTGGGTAAATTGATGCTTGAATGTCCCTTTGCAGTGGCATGCACCTGTAGTCCCAGCTAGCTACTTAGGAGGCTGAGATGGGAGGATTGCTTGAGGTCAGGAGCTTGAGACCAGCTTGGGCAACATAGCAGGACCCCATCTCTAAAACAATTTAAAAAATTTAAGCCAGGCGAGGTTGCTCACGCCTTTAATCCCAGCACTTTGGGAGGCTGAGGCGAGCAGATCACGAGGTCAGGAGTTTGAAACCAGCCTGGCCAATAAGGTGAAACTCTGTCTTTACTAAAAATACAAAAAAGTTAGCCGGGCTTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAATCCGGGAGGCAGTGGTTGCAGTGAGCCGAGGTTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCTGTCTCAAAAAAAATAAAAATAAAAATAAAAATAATTAGCTAGGTGTAGTGGCACACACCTGCTGTCCCAGCTACTTGAGAGGCTGAGGCAGGAGGATCACTTGATCATTCATTAATTCCACCAATATTTATTTATTTATTTATTTTATTTTTTTTGGAGACAGAGTCTCACTCTATCCCACTGGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCCACCTCTCAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATCACAGGCACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTCGAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCTAAC 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TGGGATTACAGGCGTGAGCCACCGAGCCCTGCCCTCAGTCCCAGAACTTTGAGAGGCCAAAGTGGGAGTATTGCTTGAAGCCAGGAGTTGGAAGCCAGCCTGGGCAACATAGAGAGACCCTGTCTCTGCAAAAAAGAATTAGCCAAGCATGGTGTAGTCCCAGCTACACAGAAGGCAGAGGGGGGAAGATTACTTTAGCCCAGGAGTTCAAGGCTTCCGTGAGCCATGATTGTACTACATCCCTCTAGCCTGGGTGACACAAGGAGACCGTGTCTCTCTCTCTTTTTAACTTTAAATAATTTTAATAAATAGAGACACAGTTTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAATGATCCTCCCGCCTTCGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGTCACCATATTCAGTGGAGACCCTTCTCTAAAATAATAATGATAATAAAGCAAGAGGAAACAAGATAGAGTAGGGATAGGGAATAATGGGTGTGTATTCAGAGGAGGTCTTCCCGAGGGGTGACATTGAAGCAAAAATTTGAAGGATGAGAAGGAGGGATCCATAGTAGATGTGTTCCAAGCAGAAAGAATAGCTAATGCAAAGGCCCTGAGGAAGGAGCTTGCCTGGCTTGTCCAAGGACCATCAAGGAGGCCACTAGGCTGGGTGCGGTGGCTTGTGCCTGTAATCTCAGCACTTTGGGAGGCAGAGGCAGGTGGATCACCTGATGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACACTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGACAGGCACCTGTAATCCCAGCTACTTAGGAGGCTGAGTCAGGAGAATCGCTTGAACGCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACACTCCAAACTAGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAGGCCACTGTAGCTGGAGCAGAGGAAGTAAGCAGGAGAGTGAGAAAAATCCACGGCAGGGACCCAGGGCAGGATGAGGCAGGACCTTGTATAACTGGGGAAGGACTTGGGTGTTCACCCTGAGTAAGGTGGGAGCCACCAAGGGTTCTGAACAGAGGAGGCTCATGACTTGACCCAAGCTTTAACAGACTCACTGTCTCCACCCCTGTCTGTCCCTGTCCACCTGTCTGTGGCCAAGAGTCCCAGCCAAGATCCTAGGATCCAAGGATCGTAAATCAGGTCCTGATCCTGGCCTTGCCCAGTGACCCCATCGGCTTTGGGAGTCCCAGCTCAGGGTCCTGAGCTGTTGGGGGGCCCATGGTGGCTCTGACCCCGGCCCTGCCCCTGTCCCCAGTCCTCCTGCTCCTCCCAGGAGCGCCTTCACCAGCTGCCCTACCAGCCCACGGTGGACGAGCTCCACTTCCTCTCCAAACACTTCGGGAGCACCGAGAGCATCACAGACGAGGATGGTGGCCGTCGCTCCCCAGCCGTGCGGCCCCGCTCACGGAGCCTCAGGTGGGCAGGCATCCCTCCTCCTTCGTACCAAGCTAGTGGTCTTAGGACTTGTGCTTAGAGAGACCCCTGTCCCCGCGAATAAAAGGGTTACATCTTGGGGCGGGGGCTCTCTGCGGGCTTGGAGGCAGAGGACTCGACAAAATGGGCTTCTCTCCCCGCAGCCCCGGGCGCTCCCCCTCCTCCTACGACAACGAGATCGTGATGATGAATCACGTCTACAAGGAGAGGTTCCCGAAGGTGAGGTGGGACCCGAGGCGGTCACGGGGTGACCAGGCGGCCTGCACTCTCGCTCGCCTTATCCCCGCGCGCCCCCTGGCGGCCTCGGTGCGCAGCGCAGGCTCCTGGCGGCCGCAGCCTTCGGGCACAGCCCCGCGCCCCTCCTCCGTCCCTCCCGCAGGCCACTGCGCAGATGGAGGAGAAGCTGCGCGACTTTACCCGCGCCTACGAACCCGACAGCGTTCTGCCTCTGGCCGATGGCGTGCTCAGCTTCATCCACCACCAGATCATCGAGCTGGCCCGGGACCGCCTGACCAAGTCCCGTGACGGCCTCATCACCACGGTCTACTTCTATGAATTGCAGGAGAACCTGGAGAAGCTCCTTCAAGACGTGAGTGCACGCGGAGGCCGGGCTGATCTCAGGCTCAGCACCGCCAGATTGTGCCCAATGCACCCCTTTCTTCACCCCACATACATTCAGGGAGCTCCTACCACGTTCCAGGCACTGGCGTGGAGCTGAGGACTCAGGGGTGGAAGTGGTCCCTTCCCTAGGTCTGACCGACTGAAGAGGCAGGAATTTCACCTCGCTCATTTCCCTTAGGTCTTTACTCAAATGTCACCTTTTCAGGTGGCTTCTTAGGCGGTCCCCAGTCATTTAAAATATTAAACTCGGCCGGGCTCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGGGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCTGGCTAACACGGTGACACCCCGTCTCTACTAAAAACACACACACACACAAAATTAGCCGGGCGTGGTGGCGGACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTAAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCGCTGTACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAATAATAATAGTAAATAAAATAAAATAAAATAAAATATTAAACTTAGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAAGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAATCCCAACTACTTGGGAGGCAGAGGCGGGAGAATCGCTTGAACCTGGGAGTCGGAGGTTGCGGTGAGCCGAGATCACACCATTGCACTCCAGTCTGAGCAACAAGAGTGAAACTCTGTCTCAAAAATAAATAAATAAATGAAATAAAATAAAATATTAAACTCTACTCACATTTATCACCCACTTTCTCCTCAGTTTCTCCTTGACACTCAGCACCATCCATCATACTGTGTATTTTTGCTTATTTTATTTCATGTCTATCCTTCTCCAATGTCAGCCCCATAGTTGGTGAGGGTGGGGGGGTGGAGTTGTCTGTTCTGTCCACTGCTGTGTCCCTGCTGTTTGGAACAATACCCAGCACACAGTAGGTACTCAATAAATGTTGGGTAAATTGATGCTTGAATGTCCCTTTGCAGTGGCATGCACCTGTAGTCCCAGCTAGCTACTTAGGAGGCTGAGATGGGAGGATTGCTTGAGGTCAGGAGCTTGAGACCAGCTTGGGCAACATAGCAGGACCCCATCTCTAAAACAATTTAAAAAATTTAAGCCAGGCGAGGTTGCTCACGCCTTTAATCCCAGCACTTTGGGAGGCTGAGGCGAGCAGATCACGAGGTCAGGAGTTTGAAACCAGCCTGGCCAATAAGGTGAAACTCTGTCTTTACTAAAAATACAAAAAAGTTAGCCGGGCTTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAATCCGGGAGGCAGTGGTTGCAGTGAGCCGAGGTTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCTGTCTCAAAAAAAATAAAAATAAAAATAAAAATAATTAGCTAGGTGTAGTGGCACACACCTGCTGTCCCAGCTACTTGAGAGGCTGAGGCAGGAGGATCACTTGATCATTCATTAATTCCACCAATATTTATTTATTTATTTATTTTATTTTTTTTGGAGACAGAGTCTCACTCTATCCCACTGGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCCACCTCTCAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATCACAGGCACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTCGAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCTAAC 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Task1_train_26567 | A variant affecting Chromosome 19, within the gene MAST1 (microtubule associated serine/threonine kinase 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | CGGGAGGCTGAGGAACAAGAATCTCTTGAACCCGGGGGCGGTGAGTGGGCAGAGGTTGCAGTGAGCCGAGATGGAGCCACTGCACTCTAGCCTGGGTGACAGAGCCAGACTCTGACTCAAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAGAAAAAAATTAAGAAAAGATAATCCATTTGGCTCTTGTGGAGAGAGCAGAATCAGGAGACTAGGAGGTAGATGACTGCTCTAGTCCAGGTTCATTGCAGAGGAGGAGGAGAGAAGGGGGCCAAATCAGTATCTCTATGGTGGGTCTGTGTGCACAATAGATGTGCTCAAATGCAGATTCCTGGGCCCCACCCTCAGAGAGTTTCTGAAACCAGCAAAATCTCGCAGAAAAGAGAACAGAAAAAAGAAAGAAATCATTAGCTTTCTTGGTCATTGGTGATTGAAAAACCAATATTACCTTCAGGAATGGCTGGATGTAGGTGCTCAAACCATTCCATCAGGAAACTCTCCATCTCTTGGCTCTGTACTCCCACATGTGGGCTTCCTTCTAGACAAGCCCTCATGTAGCAAGGTTGCCATCTAGCAGATCTCAGCTTACATTCTATGAGCTTAGCAATTCTTACAGGAAAAGAGTGAAAATTCCAAGGGCTAACTCACTGGAGCAACTTGGGTTACATACTGCCCCGGTTGCTGCACATGGAAGGAAATCTAGCCTTTGTAGGATAAAAAGGAAATAGATATTGAGAAACTGAAATACCAATGCCAATTACAGTAAATCTGGCAGAGGGGCAGAGGCAGTGGCCAACACTTTGGGAAGCTGAGGCAGGAGGATCCTTTGAACCCAAGAGTTGGAGACCAGCTTGGGCAACACAATGAAACTCGTTTCTACAAAAAACTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGACTGCAGTGGTGCGATCTTGGATCTCTGCAACCTCTGCCTCCCAGGTTCAAGCCATTCTTCTGCCTTAGCCTCCCGAGTAGCTGGGATTACAGCCGTCTGCCAACAAGCCAGGCTAACTTTAGTATTCTTTTTTCAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCTTCCCAAAGTGCTGGGATTTCAGGCGTGAGCTACCATGCCCAGCCTTGAACAATTTTTTAAAAATCAGCTGGGCATGGTGGCTCACATCTGTAGTCCCAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAGCTGGGAGGTTGAGGATGCAGTGAGCTGTGATCTTGCCACCGCACTCTAGACTGGGCAATGGAGTAAGACCCTGTCTCAAAAAAAAAAAAAAAAAATCTAGTGAAGACCAAGAATCTGCATCTAAGGCTTCCAGCTCCAAGGTTCAGACACCAGGAGATAGAGGGCTGTGCTTCCAGATGCAGTTGATAAGTGGGTAGCCTTTGTTCCCCAACTAAACCTCACCTCTACCAACAACTGCCTGCATGACCCATCCTTTCTTTGAGTCTCCATCCCTTTGTGTATAAGATGAGCTGATGACACCAACTTTGGAGGATGGCTAAGAGGACAAGAAGAACCCAGTAGAGGACCTGGAGGGAGGGAGGCCCCTCTCAGAGCCTCAGTTTCCCTTATCTATAAAACGGGTACAACATAACATGAGAAGTTGGTGCTATGGTGCATGTCCAGAGAGAGGAATGCCTCCCTTTTTATGCGGGCCCATTTCCTGGCCTGCAGGCGGCGACTGTGCCACCCTGCTGAAGAATATTGGAGCGCTGCCCGTAGAGATGGCCCGCATGTACTTTGCTGAGACGGTGCTAGCCCTGGAGTATTTGCACAACTATGGCATCGTGCACCGCGACCTCAAGCCTGACAAGTGAGCTTTGATCTTTCCCATCACTCCCTCTGTCCCTCGGGAGGCCAGGAGGCAGAATGGACGGGCCTCATCCCTGAGATCCCCACCTGTGCCTACAGCCTCCTTATCACCTCCATGGGTCACATCAAGCTCACAGATTTCGGCCTCTCCAAGATGGGGCTCATGAGCCTCACCACCAACTTATATGAAGGCCACATCGAGAAGGACGCCCGAGAGTTCCTGGACAAACAGGTGTGTGTGCGGGCATGGGGGTCGCTGAGGGTGGAGTGACCCTGCAGGACCTCGGGAACCCAGGGCCTGGTGGGGGGCACAGCTCTCCCTTGAGGGCCCTCCTCTGGCTGGGGCGTGGGCTGACAGCCTGCCCCCAGGTGTGTGGGACCCCAGAGTACATCGCGCCCGAGGTCATCCTGCGTCAAGGCTACGGCAAGCCAGTGGACTGGTGGGCTATGGGGATCATCCTCTACGAGTTCCTGGTGGGCTGTGTGCCCTTCTTCGGAGACACACCAGAGGAGCTATTTGGACAGGTCATCAGTGGTACGTGGCTTGGCAGTGTACAGGGGCAGAGTGTGGTGTGCACGGAGAGATGGACAGGCTCAGGGTTCCAGGGATTTCAAAAGCGACCCCCCAGAGGATCGCTTGCACTCAGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCAGCTGGGTGACACAGTGAGATCCTGTGTCCAAACAACAACAACAACAAAAACCGCCCCTAAGTTCCGTTTTGTTTTGCAGATGACATCCTGTGGCCCGAGGGGGATGAGGCCCTACCTACGGAGGCCCAACTCCTCATATCCAGCCTCCTGCAGACCAACCCTCTGGTCAGGCTTGGGGCAGGTAAGTCCGCCATGCAGAGGAGCTGAGGGCCCACTGATAGAGAGCAGGCCTCCAAAACCCCAGGCCCAGCCTGTGCTGTGGCCCCGGGGCGGAAGACATGGGGGGCGGGGCTGGGCTGCTGGGTTGGCCATCAGCTGTGGCTGGAATCCCTTCCGTCCCAGGCGGCGCTTTTGAGGTGAAGCAGCACAGTTTCTTTCGAGACCTGGACTGGACAGGGCTGCTGAGGCAGAAGGCCGAGTTCATCCCCCACCTAGAGTCGGAAGATGACACTAGCTACTTTGACAGTGAGCTGGGACACCAGGCACGACCTGGGTCGAGGGGTGGGATCCGGGAAGAGGGACCCTGGGGTAAGTAAAGCCTGGGATAGGGCCTGGCTAAGTACCAAGATGTGATGCCTAGGTGCGAAGGTGGTATTTTGGTGGGGGCGGGGCCAAGTGGGGCGGGGCTGACATACAGGCGGGGCTCAGGCTGAAATGTAGGTAAGAACCTGAGATTGGGCTAGGTGTGGGGCCTGGCCTGGGTGAGTTGTGAGTGTGGGCCTGGAACTGAACTAGAGAGAGGTACTAGCGCTCAGAATGGCCTGGGGTGATGCCAGGGTGCAGAGCACTGTAGGTGGAGCGTGGCCTCTTTGGAGGCGGGGCTAGACGGTGCCACTGAGAATGGGGCAAGGACCTTGCCTGGGAGCGGAGCCTAAATTAAATACACTAATGAGGCAGGGGCGTGGCCTGACCTGAAGACTTGTAAACCCGTCTTGAACCAGGACTGGGCTCCTGTGGGGATGTGATATGAGGAGGAACCCCGTACCCTCAGTCACAGCCCATACCCGCTCCCCAGCCCGCTCAGACAGGTATCACCACGTGAACTCCTATGACGAGGATGACACGACGGAGGAGGAGCCCGTGGAAATCCGCCAGTTCTCTTCCTGCTCTCCGCGCTTCAGCAAGGTGGGCCAAGTCTGGGTGTGGGACAGGGCGAGACCCCAGGAGGGATGGGGCTTGGAGAGACAGTGAGAAACAGGTTCCCTGGTGCCCAAGGTCTCAGGAGCGGGAAGTTATTGATGGGGCGGGAGTCTGGAAGGTGGTAAGGCCACGCAAGAGGCAGGTTCGGGAGTCTATGGGACGGGCCTTTGGCACTGAGTGGAATCTAACAGGAATCAGGACAGTTGTGCAGATTGAGGCCATGGTGGGGCGGGGCTAGGTGTGGGTGGGGCGGGGTCAGGACGTGGGAATGAGGCCAGCAGCGAAGGCGGAGTAAAGCCCAGCGAAGTCTTGCTTTTATTTATTTATTTTTATTTTTTCTAATAACGGGCAGAGAAGCC 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CGGGAGGCTGAGGAACAAGAATCTCTTGAACCCGGGGGCGGTGAGTGGGCAGAGGTTGCAGTGAGCCGAGATGGAGCCACTGCACTCTAGCCTGGGTGACAGAGCCAGACTCTGACTCAAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAGAAAAAAATTAAGAAAAGATAATCCATTTGGCTCTTGTGGAGAGAGCAGAATCAGGAGACTAGGAGGTAGATGACTGCTCTAGTCCAGGTTCATTGCAGAGGAGGAGGAGAGAAGGGGGCCAAATCAGTATCTCTATGGTGGGTCTGTGTGCACAATAGATGTGCTCAAATGCAGATTCCTGGGCCCCACCCTCAGAGAGTTTCTGAAACCAGCAAAATCTCGCAGAAAAGAGAACAGAAAAAAGAAAGAAATCATTAGCTTTCTTGGTCATTGGTGATTGAAAAACCAATATTACCTTCAGGAATGGCTGGATGTAGGTGCTCAAACCATTCCATCAGGAAACTCTCCATCTCTTGGCTCTGTACTCCCACATGTGGGCTTCCTTCTAGACAAGCCCTCATGTAGCAAGGTTGCCATCTAGCAGATCTCAGCTTACATTCTATGAGCTTAGCAATTCTTACAGGAAAAGAGTGAAAATTCCAAGGGCTAACTCACTGGAGCAACTTGGGTTACATACTGCCCCGGTTGCTGCACATGGAAGGAAATCTAGCCTTTGTAGGATAAAAAGGAAATAGATATTGAGAAACTGAAATACCAATGCCAATTACAGTAAATCTGGCAGAGGGGCAGAGGCAGTGGCCAACACTTTGGGAAGCTGAGGCAGGAGGATCCTTTGAACCCAAGAGTTGGAGACCAGCTTGGGCAACACAATGAAACTCGTTTCTACAAAAAACTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGACTGCAGTGGTGCGATCTTGGATCTCTGCAACCTCTGCCTCCCAGGTTCAAGCCATTCTTCTGCCTTAGCCTCCCGAGTAGCTGGGATTACAGCCGTCTGCCAACAAGCCAGGCTAACTTTAGTATTCTTTTTTCAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCTTCCCAAAGTGCTGGGATTTCAGGCGTGAGCTACCATGCCCAGCCTTGAACAATTTTTTAAAAATCAGCTGGGCATGGTGGCTCACATCTGTAGTCCCAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAGCTGGGAGGTTGAGGATGCAGTGAGCTGTGATCTTGCCACCGCACTCTAGACTGGGCAATGGAGTAAGACCCTGTCTCAAAAAAAAAAAAAAAAAATCTAGTGAAGACCAAGAATCTGCATCTAAGGCTTCCAGCTCCAAGGTTCAGACACCAGGAGATAGAGGGCTGTGCTTCCAGATGCAGTTGATAAGTGGGTAGCCTTTGTTCCCCAACTAAACCTCACCTCTACCAACAACTGCCTGCATGACCCATCCTTTCTTTGAGTCTCCATCCCTTTGTGTATAAGATGAGCTGATGACACCAACTTTGGAGGATGGCTAAGAGGACAAGAAGAACCCAGTAGAGGACCTGGAGGGAGGGAGGCCCCTCTCAGAGCCTCAGTTTCCCTTATCTATAAAACGGGTACAACATAACATGAGAAGTTGGTGCTATGGTGCATGTCCAGAGAGAGGAATGCCTCCCTTTTTATGCGGGCCCATTTCCTGGCCTGCAGGCGGCGACTGTGCCACCCTGCTGAAGAATATTGGAGCGCTGCCCGTAGAGATGGCCCGCATGTACTTTGCTGAGACGGTGCTAGCCCTGGAGTATTTGCACAACTATGGCATCGTGCACCGCGACCTCAAGCCTGACAAGTGAGCTTTGATCTTTCCCATCACTCCCTCTGTCCCTCGGGAGGCCAGGAGGCAGAATGGACGGGCCTCATCCCTGAGATCCCCACCTGTGCCTACAGCCTCCTTATCACCTCCATGGGTCACATCAAGCTCACAGATTTCAGCCTCTCCAAGATGGGGCTCATGAGCCTCACCACCAACTTATATGAAGGCCACATCGAGAAGGACGCCCGAGAGTTCCTGGACAAACAGGTGTGTGTGCGGGCATGGGGGTCGCTGAGGGTGGAGTGACCCTGCAGGACCTCGGGAACCCAGGGCCTGGTGGGGGGCACAGCTCTCCCTTGAGGGCCCTCCTCTGGCTGGGGCGTGGGCTGACAGCCTGCCCCCAGGTGTGTGGGACCCCAGAGTACATCGCGCCCGAGGTCATCCTGCGTCAAGGCTACGGCAAGCCAGTGGACTGGTGGGCTATGGGGATCATCCTCTACGAGTTCCTGGTGGGCTGTGTGCCCTTCTTCGGAGACACACCAGAGGAGCTATTTGGACAGGTCATCAGTGGTACGTGGCTTGGCAGTGTACAGGGGCAGAGTGTGGTGTGCACGGAGAGATGGACAGGCTCAGGGTTCCAGGGATTTCAAAAGCGACCCCCCAGAGGATCGCTTGCACTCAGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCAGCTGGGTGACACAGTGAGATCCTGTGTCCAAACAACAACAACAACAAAAACCGCCCCTAAGTTCCGTTTTGTTTTGCAGATGACATCCTGTGGCCCGAGGGGGATGAGGCCCTACCTACGGAGGCCCAACTCCTCATATCCAGCCTCCTGCAGACCAACCCTCTGGTCAGGCTTGGGGCAGGTAAGTCCGCCATGCAGAGGAGCTGAGGGCCCACTGATAGAGAGCAGGCCTCCAAAACCCCAGGCCCAGCCTGTGCTGTGGCCCCGGGGCGGAAGACATGGGGGGCGGGGCTGGGCTGCTGGGTTGGCCATCAGCTGTGGCTGGAATCCCTTCCGTCCCAGGCGGCGCTTTTGAGGTGAAGCAGCACAGTTTCTTTCGAGACCTGGACTGGACAGGGCTGCTGAGGCAGAAGGCCGAGTTCATCCCCCACCTAGAGTCGGAAGATGACACTAGCTACTTTGACAGTGAGCTGGGACACCAGGCACGACCTGGGTCGAGGGGTGGGATCCGGGAAGAGGGACCCTGGGGTAAGTAAAGCCTGGGATAGGGCCTGGCTAAGTACCAAGATGTGATGCCTAGGTGCGAAGGTGGTATTTTGGTGGGGGCGGGGCCAAGTGGGGCGGGGCTGACATACAGGCGGGGCTCAGGCTGAAATGTAGGTAAGAACCTGAGATTGGGCTAGGTGTGGGGCCTGGCCTGGGTGAGTTGTGAGTGTGGGCCTGGAACTGAACTAGAGAGAGGTACTAGCGCTCAGAATGGCCTGGGGTGATGCCAGGGTGCAGAGCACTGTAGGTGGAGCGTGGCCTCTTTGGAGGCGGGGCTAGACGGTGCCACTGAGAATGGGGCAAGGACCTTGCCTGGGAGCGGAGCCTAAATTAAATACACTAATGAGGCAGGGGCGTGGCCTGACCTGAAGACTTGTAAACCCGTCTTGAACCAGGACTGGGCTCCTGTGGGGATGTGATATGAGGAGGAACCCCGTACCCTCAGTCACAGCCCATACCCGCTCCCCAGCCCGCTCAGACAGGTATCACCACGTGAACTCCTATGACGAGGATGACACGACGGAGGAGGAGCCCGTGGAAATCCGCCAGTTCTCTTCCTGCTCTCCGCGCTTCAGCAAGGTGGGCCAAGTCTGGGTGTGGGACAGGGCGAGACCCCAGGAGGGATGGGGCTTGGAGAGACAGTGAGAAACAGGTTCCCTGGTGCCCAAGGTCTCAGGAGCGGGAAGTTATTGATGGGGCGGGAGTCTGGAAGGTGGTAAGGCCACGCAAGAGGCAGGTTCGGGAGTCTATGGGACGGGCCTTTGGCACTGAGTGGAATCTAACAGGAATCAGGACAGTTGTGCAGATTGAGGCCATGGTGGGGCGGGGCTAGGTGTGGGTGGGGCGGGGTCAGGACGTGGGAATGAGGCCAGCAGCGAAGGCGGAGTAAAGCCCAGCGAAGTCTTGCTTTTATTTATTTATTTTTATTTTTTCTAATAACGGGCAGAGAAGCC 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Task1_train_26568 | Assess the clinical impact of this variant on gene MAST1 (microtubule associated serine/threonine kinase 1), found on Chromosome 19. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | AATCTCTTGAACCCGGGGGCGGTGAGTGGGCAGAGGTTGCAGTGAGCCGAGATGGAGCCACTGCACTCTAGCCTGGGTGACAGAGCCAGACTCTGACTCAAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAGAAAAAAATTAAGAAAAGATAATCCATTTGGCTCTTGTGGAGAGAGCAGAATCAGGAGACTAGGAGGTAGATGACTGCTCTAGTCCAGGTTCATTGCAGAGGAGGAGGAGAGAAGGGGGCCAAATCAGTATCTCTATGGTGGGTCTGTGTGCACAATAGATGTGCTCAAATGCAGATTCCTGGGCCCCACCCTCAGAGAGTTTCTGAAACCAGCAAAATCTCGCAGAAAAGAGAACAGAAAAAAGAAAGAAATCATTAGCTTTCTTGGTCATTGGTGATTGAAAAACCAATATTACCTTCAGGAATGGCTGGATGTAGGTGCTCAAACCATTCCATCAGGAAACTCTCCATCTCTTGGCTCTGTACTCCCACATGTGGGCTTCCTTCTAGACAAGCCCTCATGTAGCAAGGTTGCCATCTAGCAGATCTCAGCTTACATTCTATGAGCTTAGCAATTCTTACAGGAAAAGAGTGAAAATTCCAAGGGCTAACTCACTGGAGCAACTTGGGTTACATACTGCCCCGGTTGCTGCACATGGAAGGAAATCTAGCCTTTGTAGGATAAAAAGGAAATAGATATTGAGAAACTGAAATACCAATGCCAATTACAGTAAATCTGGCAGAGGGGCAGAGGCAGTGGCCAACACTTTGGGAAGCTGAGGCAGGAGGATCCTTTGAACCCAAGAGTTGGAGACCAGCTTGGGCAACACAATGAAACTCGTTTCTACAAAAAACTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGACTGCAGTGGTGCGATCTTGGATCTCTGCAACCTCTGCCTCCCAGGTTCAAGCCATTCTTCTGCCTTAGCCTCCCGAGTAGCTGGGATTACAGCCGTCTGCCAACAAGCCAGGCTAACTTTAGTATTCTTTTTTCAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCTTCCCAAAGTGCTGGGATTTCAGGCGTGAGCTACCATGCCCAGCCTTGAACAATTTTTTAAAAATCAGCTGGGCATGGTGGCTCACATCTGTAGTCCCAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAGCTGGGAGGTTGAGGATGCAGTGAGCTGTGATCTTGCCACCGCACTCTAGACTGGGCAATGGAGTAAGACCCTGTCTCAAAAAAAAAAAAAAAAAATCTAGTGAAGACCAAGAATCTGCATCTAAGGCTTCCAGCTCCAAGGTTCAGACACCAGGAGATAGAGGGCTGTGCTTCCAGATGCAGTTGATAAGTGGGTAGCCTTTGTTCCCCAACTAAACCTCACCTCTACCAACAACTGCCTGCATGACCCATCCTTTCTTTGAGTCTCCATCCCTTTGTGTATAAGATGAGCTGATGACACCAACTTTGGAGGATGGCTAAGAGGACAAGAAGAACCCAGTAGAGGACCTGGAGGGAGGGAGGCCCCTCTCAGAGCCTCAGTTTCCCTTATCTATAAAACGGGTACAACATAACATGAGAAGTTGGTGCTATGGTGCATGTCCAGAGAGAGGAATGCCTCCCTTTTTATGCGGGCCCATTTCCTGGCCTGCAGGCGGCGACTGTGCCACCCTGCTGAAGAATATTGGAGCGCTGCCCGTAGAGATGGCCCGCATGTACTTTGCTGAGACGGTGCTAGCCCTGGAGTATTTGCACAACTATGGCATCGTGCACCGCGACCTCAAGCCTGACAAGTGAGCTTTGATCTTTCCCATCACTCCCTCTGTCCCTCGGGAGGCCAGGAGGCAGAATGGACGGGCCTCATCCCTGAGATCCCCACCTGTGCCTACAGCCTCCTTATCACCTCCATGGGTCACATCAAGCTCACAGATTTCGGCCTCTCCAAGATGGGGCTCATGAGCCTCACCACCAACTTATATGAAGGCCACATCGAGAAGGACGCCCGAGAGTTCCTGGACAAACAGGTGTGTGTGCGGGCATGGGGGTCGCTGAGGGTGGAGTGACCCTGCAGGACCTCGGGAACCCAGGGCCTGGTGGGGGGCACAGCTCTCCCTTGAGGGCCCTCCTCTGGCTGGGGCGTGGGCTGACAGCCTGCCCCCAGGTGTGTGGGACCCCAGAGTACATCGCGCCCGAGGTCATCCTGCGTCAAGGCTACGGCAAGCCAGTGGACTGGTGGGCTATGGGGATCATCCTCTACGAGTTCCTGGTGGGCTGTGTGCCCTTCTTCGGAGACACACCAGAGGAGCTATTTGGACAGGTCATCAGTGGTACGTGGCTTGGCAGTGTACAGGGGCAGAGTGTGGTGTGCACGGAGAGATGGACAGGCTCAGGGTTCCAGGGATTTCAAAAGCGACCCCCCAGAGGATCGCTTGCACTCAGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCAGCTGGGTGACACAGTGAGATCCTGTGTCCAAACAACAACAACAACAAAAACCGCCCCTAAGTTCCGTTTTGTTTTGCAGATGACATCCTGTGGCCCGAGGGGGATGAGGCCCTACCTACGGAGGCCCAACTCCTCATATCCAGCCTCCTGCAGACCAACCCTCTGGTCAGGCTTGGGGCAGGTAAGTCCGCCATGCAGAGGAGCTGAGGGCCCACTGATAGAGAGCAGGCCTCCAAAACCCCAGGCCCAGCCTGTGCTGTGGCCCCGGGGCGGAAGACATGGGGGGCGGGGCTGGGCTGCTGGGTTGGCCATCAGCTGTGGCTGGAATCCCTTCCGTCCCAGGCGGCGCTTTTGAGGTGAAGCAGCACAGTTTCTTTCGAGACCTGGACTGGACAGGGCTGCTGAGGCAGAAGGCCGAGTTCATCCCCCACCTAGAGTCGGAAGATGACACTAGCTACTTTGACAGTGAGCTGGGACACCAGGCACGACCTGGGTCGAGGGGTGGGATCCGGGAAGAGGGACCCTGGGGTAAGTAAAGCCTGGGATAGGGCCTGGCTAAGTACCAAGATGTGATGCCTAGGTGCGAAGGTGGTATTTTGGTGGGGGCGGGGCCAAGTGGGGCGGGGCTGACATACAGGCGGGGCTCAGGCTGAAATGTAGGTAAGAACCTGAGATTGGGCTAGGTGTGGGGCCTGGCCTGGGTGAGTTGTGAGTGTGGGCCTGGAACTGAACTAGAGAGAGGTACTAGCGCTCAGAATGGCCTGGGGTGATGCCAGGGTGCAGAGCACTGTAGGTGGAGCGTGGCCTCTTTGGAGGCGGGGCTAGACGGTGCCACTGAGAATGGGGCAAGGACCTTGCCTGGGAGCGGAGCCTAAATTAAATACACTAATGAGGCAGGGGCGTGGCCTGACCTGAAGACTTGTAAACCCGTCTTGAACCAGGACTGGGCTCCTGTGGGGATGTGATATGAGGAGGAACCCCGTACCCTCAGTCACAGCCCATACCCGCTCCCCAGCCCGCTCAGACAGGTATCACCACGTGAACTCCTATGACGAGGATGACACGACGGAGGAGGAGCCCGTGGAAATCCGCCAGTTCTCTTCCTGCTCTCCGCGCTTCAGCAAGGTGGGCCAAGTCTGGGTGTGGGACAGGGCGAGACCCCAGGAGGGATGGGGCTTGGAGAGACAGTGAGAAACAGGTTCCCTGGTGCCCAAGGTCTCAGGAGCGGGAAGTTATTGATGGGGCGGGAGTCTGGAAGGTGGTAAGGCCACGCAAGAGGCAGGTTCGGGAGTCTATGGGACGGGCCTTTGGCACTGAGTGGAATCTAACAGGAATCAGGACAGTTGTGCAGATTGAGGCCATGGTGGGGCGGGGCTAGGTGTGGGTGGGGCGGGGTCAGGACGTGGGAATGAGGCCAGCAGCGAAGGCGGAGTAAAGCCCAGCGAAGTCTTGCTTTTATTTATTTATTTTTATTTTTTCTAATAACGGGCAGAGAAGCCATAGGCCTTGCTTTGAGAA 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AATCTCTTGAACCCGGGGGCGGTGAGTGGGCAGAGGTTGCAGTGAGCCGAGATGGAGCCACTGCACTCTAGCCTGGGTGACAGAGCCAGACTCTGACTCAAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAGAAAAAAATTAAGAAAAGATAATCCATTTGGCTCTTGTGGAGAGAGCAGAATCAGGAGACTAGGAGGTAGATGACTGCTCTAGTCCAGGTTCATTGCAGAGGAGGAGGAGAGAAGGGGGCCAAATCAGTATCTCTATGGTGGGTCTGTGTGCACAATAGATGTGCTCAAATGCAGATTCCTGGGCCCCACCCTCAGAGAGTTTCTGAAACCAGCAAAATCTCGCAGAAAAGAGAACAGAAAAAAGAAAGAAATCATTAGCTTTCTTGGTCATTGGTGATTGAAAAACCAATATTACCTTCAGGAATGGCTGGATGTAGGTGCTCAAACCATTCCATCAGGAAACTCTCCATCTCTTGGCTCTGTACTCCCACATGTGGGCTTCCTTCTAGACAAGCCCTCATGTAGCAAGGTTGCCATCTAGCAGATCTCAGCTTACATTCTATGAGCTTAGCAATTCTTACAGGAAAAGAGTGAAAATTCCAAGGGCTAACTCACTGGAGCAACTTGGGTTACATACTGCCCCGGTTGCTGCACATGGAAGGAAATCTAGCCTTTGTAGGATAAAAAGGAAATAGATATTGAGAAACTGAAATACCAATGCCAATTACAGTAAATCTGGCAGAGGGGCAGAGGCAGTGGCCAACACTTTGGGAAGCTGAGGCAGGAGGATCCTTTGAACCCAAGAGTTGGAGACCAGCTTGGGCAACACAATGAAACTCGTTTCTACAAAAAACTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGACTGCAGTGGTGCGATCTTGGATCTCTGCAACCTCTGCCTCCCAGGTTCAAGCCATTCTTCTGCCTTAGCCTCCCGAGTAGCTGGGATTACAGCCGTCTGCCAACAAGCCAGGCTAACTTTAGTATTCTTTTTTCAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCTTCCCAAAGTGCTGGGATTTCAGGCGTGAGCTACCATGCCCAGCCTTGAACAATTTTTTAAAAATCAGCTGGGCATGGTGGCTCACATCTGTAGTCCCAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAGCTGGGAGGTTGAGGATGCAGTGAGCTGTGATCTTGCCACCGCACTCTAGACTGGGCAATGGAGTAAGACCCTGTCTCAAAAAAAAAAAAAAAAAATCTAGTGAAGACCAAGAATCTGCATCTAAGGCTTCCAGCTCCAAGGTTCAGACACCAGGAGATAGAGGGCTGTGCTTCCAGATGCAGTTGATAAGTGGGTAGCCTTTGTTCCCCAACTAAACCTCACCTCTACCAACAACTGCCTGCATGACCCATCCTTTCTTTGAGTCTCCATCCCTTTGTGTATAAGATGAGCTGATGACACCAACTTTGGAGGATGGCTAAGAGGACAAGAAGAACCCAGTAGAGGACCTGGAGGGAGGGAGGCCCCTCTCAGAGCCTCAGTTTCCCTTATCTATAAAACGGGTACAACATAACATGAGAAGTTGGTGCTATGGTGCATGTCCAGAGAGAGGAATGCCTCCCTTTTTATGCGGGCCCATTTCCTGGCCTGCAGGCGGCGACTGTGCCACCCTGCTGAAGAATATTGGAGCGCTGCCCGTAGAGATGGCCCGCATGTACTTTGCTGAGACGGTGCTAGCCCTGGAGTATTTGCACAACTATGGCATCGTGCACCGCGACCTCAAGCCTGACAAGTGAGCTTTGATCTTTCCCATCACTCCCTCTGTCCCTCGGGAGGCCAGGAGGCAGAATGGACGGGCCTCATCCCTGAGATCCCCACCTGTGCCTACAGCCTCCTTATCACCTCCATGGGTCACATCAAGCTCACAGATTTCGGCCTCTCCAAGATGGGGCCCATGAGCCTCACCACCAACTTATATGAAGGCCACATCGAGAAGGACGCCCGAGAGTTCCTGGACAAACAGGTGTGTGTGCGGGCATGGGGGTCGCTGAGGGTGGAGTGACCCTGCAGGACCTCGGGAACCCAGGGCCTGGTGGGGGGCACAGCTCTCCCTTGAGGGCCCTCCTCTGGCTGGGGCGTGGGCTGACAGCCTGCCCCCAGGTGTGTGGGACCCCAGAGTACATCGCGCCCGAGGTCATCCTGCGTCAAGGCTACGGCAAGCCAGTGGACTGGTGGGCTATGGGGATCATCCTCTACGAGTTCCTGGTGGGCTGTGTGCCCTTCTTCGGAGACACACCAGAGGAGCTATTTGGACAGGTCATCAGTGGTACGTGGCTTGGCAGTGTACAGGGGCAGAGTGTGGTGTGCACGGAGAGATGGACAGGCTCAGGGTTCCAGGGATTTCAAAAGCGACCCCCCAGAGGATCGCTTGCACTCAGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCAGCTGGGTGACACAGTGAGATCCTGTGTCCAAACAACAACAACAACAAAAACCGCCCCTAAGTTCCGTTTTGTTTTGCAGATGACATCCTGTGGCCCGAGGGGGATGAGGCCCTACCTACGGAGGCCCAACTCCTCATATCCAGCCTCCTGCAGACCAACCCTCTGGTCAGGCTTGGGGCAGGTAAGTCCGCCATGCAGAGGAGCTGAGGGCCCACTGATAGAGAGCAGGCCTCCAAAACCCCAGGCCCAGCCTGTGCTGTGGCCCCGGGGCGGAAGACATGGGGGGCGGGGCTGGGCTGCTGGGTTGGCCATCAGCTGTGGCTGGAATCCCTTCCGTCCCAGGCGGCGCTTTTGAGGTGAAGCAGCACAGTTTCTTTCGAGACCTGGACTGGACAGGGCTGCTGAGGCAGAAGGCCGAGTTCATCCCCCACCTAGAGTCGGAAGATGACACTAGCTACTTTGACAGTGAGCTGGGACACCAGGCACGACCTGGGTCGAGGGGTGGGATCCGGGAAGAGGGACCCTGGGGTAAGTAAAGCCTGGGATAGGGCCTGGCTAAGTACCAAGATGTGATGCCTAGGTGCGAAGGTGGTATTTTGGTGGGGGCGGGGCCAAGTGGGGCGGGGCTGACATACAGGCGGGGCTCAGGCTGAAATGTAGGTAAGAACCTGAGATTGGGCTAGGTGTGGGGCCTGGCCTGGGTGAGTTGTGAGTGTGGGCCTGGAACTGAACTAGAGAGAGGTACTAGCGCTCAGAATGGCCTGGGGTGATGCCAGGGTGCAGAGCACTGTAGGTGGAGCGTGGCCTCTTTGGAGGCGGGGCTAGACGGTGCCACTGAGAATGGGGCAAGGACCTTGCCTGGGAGCGGAGCCTAAATTAAATACACTAATGAGGCAGGGGCGTGGCCTGACCTGAAGACTTGTAAACCCGTCTTGAACCAGGACTGGGCTCCTGTGGGGATGTGATATGAGGAGGAACCCCGTACCCTCAGTCACAGCCCATACCCGCTCCCCAGCCCGCTCAGACAGGTATCACCACGTGAACTCCTATGACGAGGATGACACGACGGAGGAGGAGCCCGTGGAAATCCGCCAGTTCTCTTCCTGCTCTCCGCGCTTCAGCAAGGTGGGCCAAGTCTGGGTGTGGGACAGGGCGAGACCCCAGGAGGGATGGGGCTTGGAGAGACAGTGAGAAACAGGTTCCCTGGTGCCCAAGGTCTCAGGAGCGGGAAGTTATTGATGGGGCGGGAGTCTGGAAGGTGGTAAGGCCACGCAAGAGGCAGGTTCGGGAGTCTATGGGACGGGCCTTTGGCACTGAGTGGAATCTAACAGGAATCAGGACAGTTGTGCAGATTGAGGCCATGGTGGGGCGGGGCTAGGTGTGGGTGGGGCGGGGTCAGGACGTGGGAATGAGGCCAGCAGCGAAGGCGGAGTAAAGCCCAGCGAAGTCTTGCTTTTATTTATTTATTTTTATTTTTTCTAATAACGGGCAGAGAAGCCATAGGCCTTGCTTTGAGAA 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Task1_train_26569 | A genomic change on Chromosome 19 affects DNASE2 (deoxyribonuclease 2, lysosomal). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency | GCTCAGTTGTCAATTCCCAGTCCTGGGAATGATGACATTAATATTAATTGCCCTTCCCAAATTTGTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTAATCTCGGCACACTGCAACCTCTGCCTCCTGGTTTCAAGCGATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTGTACTTTTAGTAGAGATGGGGTTCCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCGTGTAATCAGCCAGCGCCCTCCACCATGCCCAGATAATTTTTGTACTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGACTGGTCTTGAACTCCTGGGCTCAAGTGACCCACCCGCCTTGGTCTCCCAAAATGTGGGGATTACAGGTGAGCCACCGCGTCCGGCCCTGAGTGTTTTTAATTAATTAACTTATTTATTTTGAGACTGGGTCTCATTTTGACACCCCAGCTGGAGTGCAGTGGCAGGATCATGACTCACTTGCAGCCTCGACCTCCTGGGCTCAAGCTGTTCTCCCACCTCAGCCTCCTGAGTAGTGGGGACTACACGTGTGTGCCACTATGCCCCACTAATTAAAATTTTTTTTGTAGAGATGGGGTCCCGCTGTGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCGACTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCTATTTATTTGTATTTATTTATTTATTTATTTATTTTGAGACACAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACTATCTTGACTCACTGCAAGCTCCACCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAACTGGGACTACAGGTGCCCGCCACCATGCCTGGCTAATTTTTGCACTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAGCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCTATTTATTTATTTTTAAATAAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGAGTCATTATAGCTCACTGCAGTCTGAAACTCTGGGCTCAATTTATCCTCCTGCCTCAGCCTCCCAAGTTGCTTGGCTAATTTTTAATTTTGTAGAGATGAGGTCTTGCTATGTTTCCCAGGCTTGTCTTGGATGCCTGTCTTCAAATGATCCTCCTGCCTCAGCCTCCTAAGTAACTGGGATTACAGGAGTGAGGCACCACCTCTGGCACCCAAATGACTTACAGGTACCACTTCATTCACAATTTTTTAAGTAGATGTCAGTATCCCCATTTTTCAGATGAGTAGACCAAGGCTCAGGTGAAGTTATACATCACACAGCAAAACCCAGGGTTTGAACCCAGGTCTGTTCACTGATCATGTGATTATAGCTCCCAAACAGACCTGGTCTCTACCGCTGACTTGAACTCAGCCATGGCCACACCAGTCACCCTGTCTGCAGAGAAGGAGCTCTCCAACCCTCAACCTTGAGACTCACCATCTCCAAATTTGCTGAACTTGGCAAAGCTCTGGAAAACAGCCCCGGCCTGGGATGTGAGTGTGATGCTGCTGTTCCAGGGTTCTTGGCTAACGTGGTGGCCCTTGACCACATTCTCCAAGTCGGGGAATTCCTGGGCAAAGATCCCTTCCAGCTGGTAGTTATAGACCCAGGGGTAGGTGTAGGTCAGCTGCTTGCCTGGAGGACAAGGGGAGGAGGAAATGCAAGATCGTTCCAGGTTCTGGTCAGTAAACCCAGGACTCATCCTGTGTCCCTGACTCGACTTACCCATCTTCGAGAACTGAGCGAAGGGAAAAGACACACAGAGCAGGGTCTGCCCGTAGGTACAGGCGCTATGAGGCCAGCTGTATGCAGCAGAGGAGGCCGGTGGAGGGAAGTTAGGTACACTGTGGACCAGCCAGAAGCCCCCATCGTGGTCAAGGAGCAGGACACCTGGACCAAAAGAAGGCATTAGGGGAGGTCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGACACACAGATCACCTGAGGTCAGGAGTTAGAAATCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGAGCGTGGTGGTGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCCACCACTGCACTCCAGCCTGGGCCACAGAGCAAAATTTCATCTCAAACATAAGTAAGTAAGTAAGTAAATAAATAAATAAATAAATAAATAAATAAAAATTTAAAAAAAGAAGGCAGGCCCCACGCAGTGTAATCCCAGCACTTTGGGAAGCCGAGGAGGGCGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGGCCAACATGGAGAAACCTCATCACTACTAAAAATACAACATTAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGATGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGTAGCAAGAGCAAAACTCCTTCTCAAAAAAAAAAAAAAAAAAAAGGCAATTAGAGGGTATTGCTCCAGGCCTCCCAGCAAGCTCATCTGCAATCAGGAACACCCTCAGTTTGCAGCGGGGCTTAGAGAGGGTGCCAGCAGTGTTAGAACCACAGCTGAGCTCAGTTTTTGCAGGCATAAATTCTTATAGTCCAGAATAACGCCAAGAGTAATGTAAGGTAGGGAAACAGGCCAGGTGTGGCGGCTCATGCCGGTAATCGCAGCACATTAAGAGGCCAAGGTGGGTGGATTGCTTGAACCAGGACTTAGAGACCAGCCTAGGCAACATGGCAAAAGCCCACTCTACAAAAATACAAAAAGTAGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAATATCAGCCTGTCCAACCTGGTAAAACCCCATCTCTACTAAAACATACAACATTTAGCTGGGCATGGTGGCGCACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGAAGAATCGCTTGAACTGGGGAGATGGAGATTGCAGTGAGCTGAGATTGCACCACCGAACTCCAGCCTGGGTGATGGAGAGAGAGTGCCGCAAAAAAAAAAAAAAAAAAAAAAAGCCAGGCGTGGTGGGGGGTACCGGCAGGCCCAGTACTTGGGAGGCTGAGGTAGGAGGATCACCTGAGCCCTGGGAGGTCAAGGCTGCAGTGAGCTGTGATACTGCACTCCAGCCTAGGTGACTGGGTGAGACCTTGTCTAAAAGAAAATAAAATAGGGGAAATAGATGCCCAAGGTCTGACAGGGGAGATCTCCCACCCCACTATGGAGGTCAGGGGTTAGCTTGGAAAAATGCATAGGAACTCGGCTGGGCAGGGTGGCTCATTCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTAGATCACTTGAGGTAGAAACCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTGTACTAAAAATATGAAAATTAGCCTGGTGTGATGGTGCGCCTTTAATACCAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTCAACCCCAGAGGCAGAGATTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCTTGGGTGACAGAGCGAACTCCCACCGTCTCAAAAACAAAGAAAAAAAAAAGTTGGGGGGAATAGATGCCCAGGGTCTGACAGTGCAGATCTCCCCGACCACCCCATGCACGTCAGGGGTTACCTTGGAAAAATGGGACCCGAGTCTCTCCCCAGCCCCCAATCCAGGCCTCACCCTTCGTGTGCCCACGCATGGAAGAGTCCTGAGCCTTGCTGGGTTGAGGCGGTTGGTCATTGTAG 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GCTCAGTTGTCAATTCCCAGTCCTGGGAATGATGACATTAATATTAATTGCCCTTCCCAAATTTGTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTAATCTCGGCACACTGCAACCTCTGCCTCCTGGTTTCAAGCGATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTGTACTTTTAGTAGAGATGGGGTTCCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCGTGTAATCAGCCAGCGCCCTCCACCATGCCCAGATAATTTTTGTACTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGACTGGTCTTGAACTCCTGGGCTCAAGTGACCCACCCGCCTTGGTCTCCCAAAATGTGGGGATTACAGGTGAGCCACCGCGTCCGGCCCTGAGTGTTTTTAATTAATTAACTTATTTATTTTGAGACTGGGTCTCATTTTGACACCCCAGCTGGAGTGCAGTGGCAGGATCATGACTCACTTGCAGCCTCGACCTCCTGGGCTCAAGCTGTTCTCCCACCTCAGCCTCCTGAGTAGTGGGGACTACACGTGTGTGCCACTATGCCCCACTAATTAAAATTTTTTTTGTAGAGATGGGGTCCCGCTGTGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCGACTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCTATTTATTTGTATTTATTTATTTATTTATTTATTTTGAGACACAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACTATCTTGACTCACTGCAAGCTCCACCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAACTGGGACTACAGGTGCCCGCCACCATGCCTGGCTAATTTTTGCACTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAGCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCTATTTATTTATTTTTAAATAAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGAGTCATTATAGCTCACTGCAGTCTGAAACTCTGGGCTCAATTTATCCTCCTGCCTCAGCCTCCCAAGTTGCTTGGCTAATTTTTAATTTTGTAGAGATGAGGTCTTGCTATGTTTCCCAGGCTTGTCTTGGATGCCTGTCTTCAAATGATCCTCCTGCCTCAGCCTCCTAAGTAACTGGGATTACAGGAGTGAGGCACCACCTCTGGCACCCAAATGACTTACAGGTACCACTTCATTCACAATTTTTTAAGTAGATGTCAGTATCCCCATTTTTCAGATGAGTAGACCAAGGCTCAGGTGAAGTTATACATCACACAGCAAAACCCAGGGTTTGAACCCAGGTCTGTTCACTGATCATGTGATTATAGCTCCCAAACAGACCTGGTCTCTACCGCTGACTTGAACTCAGCCATGGCCACACCAGTCACCCTGTCTGCAGAGAAGGAGCTCTCCAACCCTCAACCTTGAGACTCACCATCTCCAAATTTGCTGAACTTGGCAAAGCTCTGGAAAACAGCCCCGGCCTGGGATGTGAGTGTGATGCTGCTGTTCCAGGGTTCTTGGCTAACGTGGTGGCCCTTGACCACATTCTCCAAGTCGGGGAATTCCTGGGCAAAGATCCCTTCCAGCTGGTAGTTATAGACCCAGGGGTAGGTGTAGGTCAGCTGCTTGCCTGGAGGACAAGGGGAGGAGGAAATGCAAGATCGTTCCAGGTTCTGGTCAGTAAACCCAGGACTCATCCTGTGTCCCTGACTCGACTTACCCATCTTCGAGAACTGAGCGAAGGGAAAAGACACACAGAGCAGGGTCTGCCCGTAGGTACAGGCGCTATGAGGCCAGCTGTATGCAGCAGAGGAGGCCGGTGGAGGGAAGTTAGGTACACTGTGGACCAGCCAGAAGCCCCCATCGTGGACAAGGAGCAGGACACCTGGACCAAAAGAAGGCATTAGGGGAGGTCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGACACACAGATCACCTGAGGTCAGGAGTTAGAAATCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGAGCGTGGTGGTGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCCACCACTGCACTCCAGCCTGGGCCACAGAGCAAAATTTCATCTCAAACATAAGTAAGTAAGTAAGTAAATAAATAAATAAATAAATAAATAAATAAAAATTTAAAAAAAGAAGGCAGGCCCCACGCAGTGTAATCCCAGCACTTTGGGAAGCCGAGGAGGGCGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGGCCAACATGGAGAAACCTCATCACTACTAAAAATACAACATTAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGATGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGTAGCAAGAGCAAAACTCCTTCTCAAAAAAAAAAAAAAAAAAAAGGCAATTAGAGGGTATTGCTCCAGGCCTCCCAGCAAGCTCATCTGCAATCAGGAACACCCTCAGTTTGCAGCGGGGCTTAGAGAGGGTGCCAGCAGTGTTAGAACCACAGCTGAGCTCAGTTTTTGCAGGCATAAATTCTTATAGTCCAGAATAACGCCAAGAGTAATGTAAGGTAGGGAAACAGGCCAGGTGTGGCGGCTCATGCCGGTAATCGCAGCACATTAAGAGGCCAAGGTGGGTGGATTGCTTGAACCAGGACTTAGAGACCAGCCTAGGCAACATGGCAAAAGCCCACTCTACAAAAATACAAAAAGTAGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAATATCAGCCTGTCCAACCTGGTAAAACCCCATCTCTACTAAAACATACAACATTTAGCTGGGCATGGTGGCGCACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGAAGAATCGCTTGAACTGGGGAGATGGAGATTGCAGTGAGCTGAGATTGCACCACCGAACTCCAGCCTGGGTGATGGAGAGAGAGTGCCGCAAAAAAAAAAAAAAAAAAAAAAAGCCAGGCGTGGTGGGGGGTACCGGCAGGCCCAGTACTTGGGAGGCTGAGGTAGGAGGATCACCTGAGCCCTGGGAGGTCAAGGCTGCAGTGAGCTGTGATACTGCACTCCAGCCTAGGTGACTGGGTGAGACCTTGTCTAAAAGAAAATAAAATAGGGGAAATAGATGCCCAAGGTCTGACAGGGGAGATCTCCCACCCCACTATGGAGGTCAGGGGTTAGCTTGGAAAAATGCATAGGAACTCGGCTGGGCAGGGTGGCTCATTCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTAGATCACTTGAGGTAGAAACCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTGTACTAAAAATATGAAAATTAGCCTGGTGTGATGGTGCGCCTTTAATACCAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTCAACCCCAGAGGCAGAGATTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCTTGGGTGACAGAGCGAACTCCCACCGTCTCAAAAACAAAGAAAAAAAAAAGTTGGGGGGAATAGATGCCCAGGGTCTGACAGTGCAGATCTCCCCGACCACCCCATGCACGTCAGGGGTTACCTTGGAAAAATGGGACCCGAGTCTCTCCCCAGCCCCCAATCCAGGCCTCACCCTTCGTGTGCCCACGCATGGAAGAGTCCTGAGCCTTGCTGGGTTGAGGCGGTTGGTCATTGTAG 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Task1_train_26570 | Located on Chromosome 19, this mutation impacts DNASE2 (deoxyribonuclease 2, lysosomal). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency | CCCAGTCCTGGGAATGATGACATTAATATTAATTGCCCTTCCCAAATTTGTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTAATCTCGGCACACTGCAACCTCTGCCTCCTGGTTTCAAGCGATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTGTACTTTTAGTAGAGATGGGGTTCCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCGTGTAATCAGCCAGCGCCCTCCACCATGCCCAGATAATTTTTGTACTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGACTGGTCTTGAACTCCTGGGCTCAAGTGACCCACCCGCCTTGGTCTCCCAAAATGTGGGGATTACAGGTGAGCCACCGCGTCCGGCCCTGAGTGTTTTTAATTAATTAACTTATTTATTTTGAGACTGGGTCTCATTTTGACACCCCAGCTGGAGTGCAGTGGCAGGATCATGACTCACTTGCAGCCTCGACCTCCTGGGCTCAAGCTGTTCTCCCACCTCAGCCTCCTGAGTAGTGGGGACTACACGTGTGTGCCACTATGCCCCACTAATTAAAATTTTTTTTGTAGAGATGGGGTCCCGCTGTGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCGACTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCTATTTATTTGTATTTATTTATTTATTTATTTATTTTGAGACACAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACTATCTTGACTCACTGCAAGCTCCACCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAACTGGGACTACAGGTGCCCGCCACCATGCCTGGCTAATTTTTGCACTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAGCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCTATTTATTTATTTTTAAATAAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGAGTCATTATAGCTCACTGCAGTCTGAAACTCTGGGCTCAATTTATCCTCCTGCCTCAGCCTCCCAAGTTGCTTGGCTAATTTTTAATTTTGTAGAGATGAGGTCTTGCTATGTTTCCCAGGCTTGTCTTGGATGCCTGTCTTCAAATGATCCTCCTGCCTCAGCCTCCTAAGTAACTGGGATTACAGGAGTGAGGCACCACCTCTGGCACCCAAATGACTTACAGGTACCACTTCATTCACAATTTTTTAAGTAGATGTCAGTATCCCCATTTTTCAGATGAGTAGACCAAGGCTCAGGTGAAGTTATACATCACACAGCAAAACCCAGGGTTTGAACCCAGGTCTGTTCACTGATCATGTGATTATAGCTCCCAAACAGACCTGGTCTCTACCGCTGACTTGAACTCAGCCATGGCCACACCAGTCACCCTGTCTGCAGAGAAGGAGCTCTCCAACCCTCAACCTTGAGACTCACCATCTCCAAATTTGCTGAACTTGGCAAAGCTCTGGAAAACAGCCCCGGCCTGGGATGTGAGTGTGATGCTGCTGTTCCAGGGTTCTTGGCTAACGTGGTGGCCCTTGACCACATTCTCCAAGTCGGGGAATTCCTGGGCAAAGATCCCTTCCAGCTGGTAGTTATAGACCCAGGGGTAGGTGTAGGTCAGCTGCTTGCCTGGAGGACAAGGGGAGGAGGAAATGCAAGATCGTTCCAGGTTCTGGTCAGTAAACCCAGGACTCATCCTGTGTCCCTGACTCGACTTACCCATCTTCGAGAACTGAGCGAAGGGAAAAGACACACAGAGCAGGGTCTGCCCGTAGGTACAGGCGCTATGAGGCCAGCTGTATGCAGCAGAGGAGGCCGGTGGAGGGAAGTTAGGTACACTGTGGACCAGCCAGAAGCCCCCATCGTGGTCAAGGAGCAGGACACCTGGACCAAAAGAAGGCATTAGGGGAGGTCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGACACACAGATCACCTGAGGTCAGGAGTTAGAAATCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGAGCGTGGTGGTGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCCACCACTGCACTCCAGCCTGGGCCACAGAGCAAAATTTCATCTCAAACATAAGTAAGTAAGTAAGTAAATAAATAAATAAATAAATAAATAAATAAAAATTTAAAAAAAGAAGGCAGGCCCCACGCAGTGTAATCCCAGCACTTTGGGAAGCCGAGGAGGGCGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGGCCAACATGGAGAAACCTCATCACTACTAAAAATACAACATTAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGATGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGTAGCAAGAGCAAAACTCCTTCTCAAAAAAAAAAAAAAAAAAAAGGCAATTAGAGGGTATTGCTCCAGGCCTCCCAGCAAGCTCATCTGCAATCAGGAACACCCTCAGTTTGCAGCGGGGCTTAGAGAGGGTGCCAGCAGTGTTAGAACCACAGCTGAGCTCAGTTTTTGCAGGCATAAATTCTTATAGTCCAGAATAACGCCAAGAGTAATGTAAGGTAGGGAAACAGGCCAGGTGTGGCGGCTCATGCCGGTAATCGCAGCACATTAAGAGGCCAAGGTGGGTGGATTGCTTGAACCAGGACTTAGAGACCAGCCTAGGCAACATGGCAAAAGCCCACTCTACAAAAATACAAAAAGTAGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAATATCAGCCTGTCCAACCTGGTAAAACCCCATCTCTACTAAAACATACAACATTTAGCTGGGCATGGTGGCGCACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGAAGAATCGCTTGAACTGGGGAGATGGAGATTGCAGTGAGCTGAGATTGCACCACCGAACTCCAGCCTGGGTGATGGAGAGAGAGTGCCGCAAAAAAAAAAAAAAAAAAAAAAAGCCAGGCGTGGTGGGGGGTACCGGCAGGCCCAGTACTTGGGAGGCTGAGGTAGGAGGATCACCTGAGCCCTGGGAGGTCAAGGCTGCAGTGAGCTGTGATACTGCACTCCAGCCTAGGTGACTGGGTGAGACCTTGTCTAAAAGAAAATAAAATAGGGGAAATAGATGCCCAAGGTCTGACAGGGGAGATCTCCCACCCCACTATGGAGGTCAGGGGTTAGCTTGGAAAAATGCATAGGAACTCGGCTGGGCAGGGTGGCTCATTCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTAGATCACTTGAGGTAGAAACCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTGTACTAAAAATATGAAAATTAGCCTGGTGTGATGGTGCGCCTTTAATACCAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTCAACCCCAGAGGCAGAGATTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCTTGGGTGACAGAGCGAACTCCCACCGTCTCAAAAACAAAGAAAAAAAAAAGTTGGGGGGAATAGATGCCCAGGGTCTGACAGTGCAGATCTCCCCGACCACCCCATGCACGTCAGGGGTTACCTTGGAAAAATGGGACCCGAGTCTCTCCCCAGCCCCCAATCCAGGCCTCACCCTTCGTGTGCCCACGCATGGAAGAGTCCTGAGCCTTGCTGGGTTGAGGCGGTTGGTCATTGTAGAGCAGGAAGGCGAGC 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CCCAGTCCTGGGAATGATGACATTAATATTAATTGCCCTTCCCAAATTTGTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTAATCTCGGCACACTGCAACCTCTGCCTCCTGGTTTCAAGCGATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTGTACTTTTAGTAGAGATGGGGTTCCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCGTGTAATCAGCCAGCGCCCTCCACCATGCCCAGATAATTTTTGTACTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGACTGGTCTTGAACTCCTGGGCTCAAGTGACCCACCCGCCTTGGTCTCCCAAAATGTGGGGATTACAGGTGAGCCACCGCGTCCGGCCCTGAGTGTTTTTAATTAATTAACTTATTTATTTTGAGACTGGGTCTCATTTTGACACCCCAGCTGGAGTGCAGTGGCAGGATCATGACTCACTTGCAGCCTCGACCTCCTGGGCTCAAGCTGTTCTCCCACCTCAGCCTCCTGAGTAGTGGGGACTACACGTGTGTGCCACTATGCCCCACTAATTAAAATTTTTTTTGTAGAGATGGGGTCCCGCTGTGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCGACTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCTATTTATTTGTATTTATTTATTTATTTATTTATTTTGAGACACAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACTATCTTGACTCACTGCAAGCTCCACCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAACTGGGACTACAGGTGCCCGCCACCATGCCTGGCTAATTTTTGCACTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAGCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCTATTTATTTATTTTTAAATAAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGAGTCATTATAGCTCACTGCAGTCTGAAACTCTGGGCTCAATTTATCCTCCTGCCTCAGCCTCCCAAGTTGCTTGGCTAATTTTTAATTTTGTAGAGATGAGGTCTTGCTATGTTTCCCAGGCTTGTCTTGGATGCCTGTCTTCAAATGATCCTCCTGCCTCAGCCTCCTAAGTAACTGGGATTACAGGAGTGAGGCACCACCTCTGGCACCCAAATGACTTACAGGTACCACTTCATTCACAATTTTTTAAGTAGATGTCAGTATCCCCATTTTTCAGATGAGTAGACCAAGGCTCAGGTGAAGTTATACATCACACAGCAAAACCCAGGGTTTGAACCCAGGTCTGTTCACTGATCATGTGATTATAGCTCCCAAACAGACCTGGTCTCTACCGCTGACTTGAACTCAGCCATGGCCACACCAGTCACCCTGTCTGCAGAGAAGGAGCTCTCCAACCCTCAACCTTGAGACTCACCATCTCCAAATTTGCTGAACTTGGCAAAGCTCTGGAAAACAGCCCCGGCCTGGGATGTGAGTGTGATGCTGCTGTTCCAGGGTTCTTGGCTAACGTGGTGGCCCTTGACCACATTCTCCAAGTCGGGGAATTCCTGGGCAAAGATCCCTTCCAGCTGGTAGTTATAGACCCAGGGGTAGGTGTAGGTCAGCTGCTTGCCTGGAGGACAAGGGGAGGAGGAAATGCAAGATCGTTCCAGGTTCTGGTCAGTAAACCCAGGACTCATCCTGTGTCCCTGACTCGACTTACCCATCTTCGAGAACTGAGCGAAGGGAAAAGACACACAGAGCAGGGTCTGCCCGTAGGTACAGGCGCTATGAGGCCAGCTGTATGCAGCAGAGGAGGCCGGTGGAGGGAAGTTAGGTACACTGTGGACCAGCCAGAAGCCCCCATCGTGGTCAAGGAGCAGGACAGCTGGACCAAAAGAAGGCATTAGGGGAGGTCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGACACACAGATCACCTGAGGTCAGGAGTTAGAAATCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGAGCGTGGTGGTGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCCACCACTGCACTCCAGCCTGGGCCACAGAGCAAAATTTCATCTCAAACATAAGTAAGTAAGTAAGTAAATAAATAAATAAATAAATAAATAAATAAAAATTTAAAAAAAGAAGGCAGGCCCCACGCAGTGTAATCCCAGCACTTTGGGAAGCCGAGGAGGGCGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGGCCAACATGGAGAAACCTCATCACTACTAAAAATACAACATTAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGATGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGTAGCAAGAGCAAAACTCCTTCTCAAAAAAAAAAAAAAAAAAAAGGCAATTAGAGGGTATTGCTCCAGGCCTCCCAGCAAGCTCATCTGCAATCAGGAACACCCTCAGTTTGCAGCGGGGCTTAGAGAGGGTGCCAGCAGTGTTAGAACCACAGCTGAGCTCAGTTTTTGCAGGCATAAATTCTTATAGTCCAGAATAACGCCAAGAGTAATGTAAGGTAGGGAAACAGGCCAGGTGTGGCGGCTCATGCCGGTAATCGCAGCACATTAAGAGGCCAAGGTGGGTGGATTGCTTGAACCAGGACTTAGAGACCAGCCTAGGCAACATGGCAAAAGCCCACTCTACAAAAATACAAAAAGTAGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAATATCAGCCTGTCCAACCTGGTAAAACCCCATCTCTACTAAAACATACAACATTTAGCTGGGCATGGTGGCGCACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGAAGAATCGCTTGAACTGGGGAGATGGAGATTGCAGTGAGCTGAGATTGCACCACCGAACTCCAGCCTGGGTGATGGAGAGAGAGTGCCGCAAAAAAAAAAAAAAAAAAAAAAAGCCAGGCGTGGTGGGGGGTACCGGCAGGCCCAGTACTTGGGAGGCTGAGGTAGGAGGATCACCTGAGCCCTGGGAGGTCAAGGCTGCAGTGAGCTGTGATACTGCACTCCAGCCTAGGTGACTGGGTGAGACCTTGTCTAAAAGAAAATAAAATAGGGGAAATAGATGCCCAAGGTCTGACAGGGGAGATCTCCCACCCCACTATGGAGGTCAGGGGTTAGCTTGGAAAAATGCATAGGAACTCGGCTGGGCAGGGTGGCTCATTCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTAGATCACTTGAGGTAGAAACCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTGTACTAAAAATATGAAAATTAGCCTGGTGTGATGGTGCGCCTTTAATACCAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTCAACCCCAGAGGCAGAGATTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCTTGGGTGACAGAGCGAACTCCCACCGTCTCAAAAACAAAGAAAAAAAAAAGTTGGGGGGAATAGATGCCCAGGGTCTGACAGTGCAGATCTCCCCGACCACCCCATGCACGTCAGGGGTTACCTTGGAAAAATGGGACCCGAGTCTCTCCCCAGCCCCCAATCCAGGCCTCACCCTTCGTGTGCCCACGCATGGAAGAGTCCTGAGCCTTGCTGGGTTGAGGCGGTTGGTCATTGTAGAGCAGGAAGGCGAGC 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Task1_train_26571 | Given a variant located on Chromosome 19 and affecting DNASE2 (deoxyribonuclease 2, lysosomal), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency | TGGTCAAGGAGCAGGACACCTGGACCAAAAGAAGGCATTAGGGGAGGTCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGACACACAGATCACCTGAGGTCAGGAGTTAGAAATCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGAGCGTGGTGGTGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCCACCACTGCACTCCAGCCTGGGCCACAGAGCAAAATTTCATCTCAAACATAAGTAAGTAAGTAAGTAAATAAATAAATAAATAAATAAATAAATAAAAATTTAAAAAAAGAAGGCAGGCCCCACGCAGTGTAATCCCAGCACTTTGGGAAGCCGAGGAGGGCGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGGCCAACATGGAGAAACCTCATCACTACTAAAAATACAACATTAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGATGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGTAGCAAGAGCAAAACTCCTTCTCAAAAAAAAAAAAAAAAAAAAGGCAATTAGAGGGTATTGCTCCAGGCCTCCCAGCAAGCTCATCTGCAATCAGGAACACCCTCAGTTTGCAGCGGGGCTTAGAGAGGGTGCCAGCAGTGTTAGAACCACAGCTGAGCTCAGTTTTTGCAGGCATAAATTCTTATAGTCCAGAATAACGCCAAGAGTAATGTAAGGTAGGGAAACAGGCCAGGTGTGGCGGCTCATGCCGGTAATCGCAGCACATTAAGAGGCCAAGGTGGGTGGATTGCTTGAACCAGGACTTAGAGACCAGCCTAGGCAACATGGCAAAAGCCCACTCTACAAAAATACAAAAAGTAGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAATATCAGCCTGTCCAACCTGGTAAAACCCCATCTCTACTAAAACATACAACATTTAGCTGGGCATGGTGGCGCACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGAAGAATCGCTTGAACTGGGGAGATGGAGATTGCAGTGAGCTGAGATTGCACCACCGAACTCCAGCCTGGGTGATGGAGAGAGAGTGCCGCAAAAAAAAAAAAAAAAAAAAAAAGCCAGGCGTGGTGGGGGGTACCGGCAGGCCCAGTACTTGGGAGGCTGAGGTAGGAGGATCACCTGAGCCCTGGGAGGTCAAGGCTGCAGTGAGCTGTGATACTGCACTCCAGCCTAGGTGACTGGGTGAGACCTTGTCTAAAAGAAAATAAAATAGGGGAAATAGATGCCCAAGGTCTGACAGGGGAGATCTCCCACCCCACTATGGAGGTCAGGGGTTAGCTTGGAAAAATGCATAGGAACTCGGCTGGGCAGGGTGGCTCATTCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTAGATCACTTGAGGTAGAAACCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTGTACTAAAAATATGAAAATTAGCCTGGTGTGATGGTGCGCCTTTAATACCAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTCAACCCCAGAGGCAGAGATTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCTTGGGTGACAGAGCGAACTCCCACCGTCTCAAAAACAAAGAAAAAAAAAAGTTGGGGGGAATAGATGCCCAGGGTCTGACAGTGCAGATCTCCCCGACCACCCCATGCACGTCAGGGGTTACCTTGGAAAAATGGGACCCGAGTCTCTCCCCAGCCCCCAATCCAGGCCTCACCCTTCGTGTGCCCACGCATGGAAGAGTCCTGAGCCTTGCTGGGTTGAGGCGGTTGGTCATTGTAGAGCAGGAAGGCGAGCTGCGGGCGGATAAACGGAGGCAACGTGAAATTCCTCCCAGGCAGGGCAGCCCTAGAGTTTCGCCCCTAGTTGGCCCGGGGCCCCCTTCACCTGGCTGGTGTTGCTCCGGTACAGCGGCTGCAGGCTTCGGCCCACGGCCCCCTCCGGGCTGTTGATGAGTGCCCTGCCGTCCCGCCAGCCTCCGGAGCTCTCGTCCAGATACTTGTACTGCAGCCCTCTCTGCGCCGCCTCCCCGGACCCTCTAAGAGCTGGCAGCTTGTAGACCACGAACCTGGAGGTCGGAGAATGCACAGAAATAGGAGAGAGGGAAGAGAAGGCACCCCAGGGTTCCCCGAGGAGGTAGCCATCCCGGTTGAGTGACCGCAGCCGGACCCCGGGGCGATGGTAGGCCCCCCGCTGCGCACTCACCAGTCTACAGGCTGCCCGGAGTCCCCGTAGCAGGTCAGGGCCCCGGCGGGGACGCACAGCAGCGCTGCCAGCAGCAGCGGGATCATAGCTGCTATGGGGCTGAGATCCAGGAATCTGTGTCGGGACTGCGGGGCGCTGGGTTACATCAGAGGCCAGGACTGGCACCTGGCGCCTTTCACTTCCCTAAACTTGCCTGGGAACCGGGGCGGGGACATCACGAGGGTACAGACTCCTCCCCCGAGACGCGATGCTGCGTTTTGGAGAGGCAAAAGGCAACGCTGAGTCTGCCCAGACCACGCCCACGACGGGCCCGGCGCTCCAGCGTCTCCTGGAGCCTGGCCACCGTTCCTTTTCGTGGTAGCTAATCCCAGCCCACGCTCTTCTGTCTGACCCAACTCCCGCCCGGGTTTCTGGATCAGGCACAAGTTTGTATTTTATTTTTTATTCCAGCCCTACAACCTGGGTCCAACTCTTGGGACCTTTGTTCTTCCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGCAATGGCACGATCTCGGTTCACTGCAACCTCCGCCTTCCTGATTAAAGCGATTATCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGACACCACGCCCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTTTCCATGTTGACTAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACCAGCCTCGGCCCCCGAAAGTGCCAAGATTGCAGAAGTGAGCCACTGCGCCCCTTAAGAAGCATTTGTGTTCCAGTGTATCTTCCCCTTTTTCTTTCTTTTTTTTTTTCCTTCCTTTTTTTTTTTTTTTTTTCCCGGACAATATCTCGCTCTGTTGCCCAGGCCGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCTGCCTCCCCAGCTCAAGTGATCCTCTCACCTCAGCCTCCCGAGTAGCTGGGATCACGGGCACATGCCACTATGCCCAGCTAATTTTTGTAGTTTTTTTTTTGAAACACGGTTTCACCATGTGGCTCAGGCTGAACTCCTGAGCTCAAGGGATCCACCTGTCTTGCCTCCCAAAGTGCTGGGATTACAGGCATGTAATCCACGCCACCCAGACTCTCCTTTTTCATTCTGCACGTTTTCTCCAGGATCCCCTGAGCTAGCAAAGAGGTGACTGTATGTTTGTTTTTTGTCGTTTTGAGACAGGATAATGGTTTCTCACCCAGGCTAGAATGCAGTGACTCCATCACAGTTCACTGCAGCCTCAACCTACTGGGCTCAAGAGATCTTCCCAGGTAGCTGGTACTACAGGCCTGTGCCACCACACCCAGATAATTGTTCATTGCAGAGATGAGGGTCTCACTATGTTGCCCAGGCTGCTCTGGAACTCCGGGGTTCAAGTGATTCTCCCACCTCAGCCTCAAAGGATCATGGCAGGGCAAAGGGCTATGGGAATCTGAGTACTGGCTTGAAACTGCCTTTGCAAAAATTATGACAGAAAATTATGTCAGTGAAAGAGCTCTGACCTAACCAACTCCATCTTGCCTTTAATCTCCAAACTGCCCTTGCTTGGTCAT 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TGGTCAAGGAGCAGGACACCTGGACCAAAAGAAGGCATTAGGGGAGGTCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGACACACAGATCACCTGAGGTCAGGAGTTAGAAATCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGAGCGTGGTGGTGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCCACCACTGCACTCCAGCCTGGGCCACAGAGCAAAATTTCATCTCAAACATAAGTAAGTAAGTAAGTAAATAAATAAATAAATAAATAAATAAATAAAAATTTAAAAAAAGAAGGCAGGCCCCACGCAGTGTAATCCCAGCACTTTGGGAAGCCGAGGAGGGCGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGGCCAACATGGAGAAACCTCATCACTACTAAAAATACAACATTAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGATGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGTAGCAAGAGCAAAACTCCTTCTCAAAAAAAAAAAAAAAAAAAAGGCAATTAGAGGGTATTGCTCCAGGCCTCCCAGCAAGCTCATCTGCAATCAGGAACACCCTCAGTTTGCAGCGGGGCTTAGAGAGGGTGCCAGCAGTGTTAGAACCACAGCTGAGCTCAGTTTTTGCAGGCATAAATTCTTATAGTCCAGAATAACGCCAAGAGTAATGTAAGGTAGGGAAACAGGCCAGGTGTGGCGGCTCATGCCGGTAATCGCAGCACATTAAGAGGCCAAGGTGGGTGGATTGCTTGAACCAGGACTTAGAGACCAGCCTAGGCAACATGGCAAAAGCCCACTCTACAAAAATACAAAAAGTAGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAATATCAGCCTGTCCAACCTGGTAAAACCCCATCTCTACTAAAACATACAACATTTAGCTGGGCATGGTGGCGCACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGAAGAATCGCTTGAACTGGGGAGATGGAGATTGCAGTGAGCTGAGATTGCACCACCGAACTCCAGCCTGGGTGATGGAGAGAGAGTGCCGCAAAAAAAAAAAAAAAAAAAAAAAGCCAGGCGTGGTGGGGGGTACCGGCAGGCCCAGTACTTGGGAGGCTGAGGTAGGAGGATCACCTGAGCCCTGGGAGGTCAAGGCTGCAGTGAGCTGTGATACTGCACTCCAGCCTAGGTGACTGGGTGAGACCTTGTCTAAAAGAAAATAAAATAGGGGAAATAGATGCCCAAGGTCTGACAGGGGAGATCTCCCACCCCACTATGGAGGTCAGGGGTTAGCTTGGAAAAATGCATAGGAACTCGGCTGGGCAGGGTGGCTCATTCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTAGATCACTTGAGGTAGAAACCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTGTACTAAAAATATGAAAATTAGCCTGGTGTGATGGTGCGCCTTTAATACCAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTCAACCCCAGAGGCAGAGATTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCTTGGGTGACAGAGCGAACTCCCACCGTCTCAAAAACAAAGAAAAAAAAAAGTTGGGGGGAATAGATGCCCAGGGTCTGACAGTGCAGATCTCCCCGACCACCCCATGCACGTCAGGGGTTACCTTGGAAAAATGGGACCCGAGTCTCTCCCCAGCCCCCAATCCAGGCCTCACCCTTCGTGTGCCCACGCATGGAAGAGTCCTGAGCCTTGCTGGGTTGAGGCGGTTGGTCATTGCAGAGCAGGAAGGCGAGCTGCGGGCGGATAAACGGAGGCAACGTGAAATTCCTCCCAGGCAGGGCAGCCCTAGAGTTTCGCCCCTAGTTGGCCCGGGGCCCCCTTCACCTGGCTGGTGTTGCTCCGGTACAGCGGCTGCAGGCTTCGGCCCACGGCCCCCTCCGGGCTGTTGATGAGTGCCCTGCCGTCCCGCCAGCCTCCGGAGCTCTCGTCCAGATACTTGTACTGCAGCCCTCTCTGCGCCGCCTCCCCGGACCCTCTAAGAGCTGGCAGCTTGTAGACCACGAACCTGGAGGTCGGAGAATGCACAGAAATAGGAGAGAGGGAAGAGAAGGCACCCCAGGGTTCCCCGAGGAGGTAGCCATCCCGGTTGAGTGACCGCAGCCGGACCCCGGGGCGATGGTAGGCCCCCCGCTGCGCACTCACCAGTCTACAGGCTGCCCGGAGTCCCCGTAGCAGGTCAGGGCCCCGGCGGGGACGCACAGCAGCGCTGCCAGCAGCAGCGGGATCATAGCTGCTATGGGGCTGAGATCCAGGAATCTGTGTCGGGACTGCGGGGCGCTGGGTTACATCAGAGGCCAGGACTGGCACCTGGCGCCTTTCACTTCCCTAAACTTGCCTGGGAACCGGGGCGGGGACATCACGAGGGTACAGACTCCTCCCCCGAGACGCGATGCTGCGTTTTGGAGAGGCAAAAGGCAACGCTGAGTCTGCCCAGACCACGCCCACGACGGGCCCGGCGCTCCAGCGTCTCCTGGAGCCTGGCCACCGTTCCTTTTCGTGGTAGCTAATCCCAGCCCACGCTCTTCTGTCTGACCCAACTCCCGCCCGGGTTTCTGGATCAGGCACAAGTTTGTATTTTATTTTTTATTCCAGCCCTACAACCTGGGTCCAACTCTTGGGACCTTTGTTCTTCCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGCAATGGCACGATCTCGGTTCACTGCAACCTCCGCCTTCCTGATTAAAGCGATTATCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGACACCACGCCCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTTTCCATGTTGACTAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACCAGCCTCGGCCCCCGAAAGTGCCAAGATTGCAGAAGTGAGCCACTGCGCCCCTTAAGAAGCATTTGTGTTCCAGTGTATCTTCCCCTTTTTCTTTCTTTTTTTTTTTCCTTCCTTTTTTTTTTTTTTTTTTCCCGGACAATATCTCGCTCTGTTGCCCAGGCCGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCTGCCTCCCCAGCTCAAGTGATCCTCTCACCTCAGCCTCCCGAGTAGCTGGGATCACGGGCACATGCCACTATGCCCAGCTAATTTTTGTAGTTTTTTTTTTGAAACACGGTTTCACCATGTGGCTCAGGCTGAACTCCTGAGCTCAAGGGATCCACCTGTCTTGCCTCCCAAAGTGCTGGGATTACAGGCATGTAATCCACGCCACCCAGACTCTCCTTTTTCATTCTGCACGTTTTCTCCAGGATCCCCTGAGCTAGCAAAGAGGTGACTGTATGTTTGTTTTTTGTCGTTTTGAGACAGGATAATGGTTTCTCACCCAGGCTAGAATGCAGTGACTCCATCACAGTTCACTGCAGCCTCAACCTACTGGGCTCAAGAGATCTTCCCAGGTAGCTGGTACTACAGGCCTGTGCCACCACACCCAGATAATTGTTCATTGCAGAGATGAGGGTCTCACTATGTTGCCCAGGCTGCTCTGGAACTCCGGGGTTCAAGTGATTCTCCCACCTCAGCCTCAAAGGATCATGGCAGGGCAAAGGGCTATGGGAATCTGAGTACTGGCTTGAAACTGCCTTTGCAAAAATTATGACAGAAAATTATGTCAGTGAAAGAGCTCTGACCTAACCAACTCCATCTTGCCTTTAATCTCCAAACTGCCCTTGCTTGGTCAT 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Task1_train_26572 | This mutation occurs in KLF1 (KLF transcription factor 1) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; BLOOD GROUP--LUTHERAN INHIBITOR | TCTGACCTAACCAACTCCATCTTGCCTTTAATCTCCAAACTGCCCTTGCTTGGTCATTCCTGGAGTGGGGTCAAGCTAACTTTTTTTTTTTTTTTGACACGTTGTCTCACTCTGTCGCCCAGGCTGGAGTCCAGTGGTGTGATCTCAGCTCACTGCAACATCCGCCTCCTAGGTTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGCATGCGCCACATGCCCAGCTAATTTTTGTATTTTTGGTAGAGACTGGGTTTCACCATTTTTGGTAGAGATGGGGTTTCACCTTGGGGCTCAGGCTGGTGTCGAACTCCTGGGCTCAAGTGATCTGCCCGCCTCAGCCTGCCAAATTGCTGGGATTAAAGAGGGAGCCACCATGCCTGGCCCCAAGCTAATTTTGGGAGGAATTTAGTTTATAGCTTAAATGATAATAGCCCTTCCCCAAACTAAACTGCCTTTGTAGAAATAATGAAAGGGCACTAGGTTAGGAGGATGAGAGGAGCCTGAATTCTGCTAAACTGTAGGTGTAGTAGTTAAATTATGACCAGCCATTTTTCCGGCCGGGTGCGGTGCCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCTGGCAGATTACCTGAGGTCAGGATTTCGAAACCAGCCTGGCCAGCATTTCGAAACCCCATCTCTTCTAAAAATACAAAAATTAGCCCGGCATGGTGGCATGTGCCTGTAATCCTAGCTACCTGGTAGGCTGACACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGAACAACTGCACTCCAGCCTGGGCAAGAGCAAGACTCCATCTCAAAAACAAAAACAAAGATGGCCAGCCATTATTCTGGAGGTCACAAGGTTTGCAACTTCCCCAGTTATTTCTGCAAATAACATGACTATTGCAAAACCTAACGCTGGCCTTTTTAGATGTCTTTTTAGGCTTTTTGCATATCTGACAACTGGATGACTCCACCCAGACTAGCGACTCTATGGTCCCCACCCAGAAGCTGACTCAGCAACTGTTTTCCACAGCTCCAGGATTGCAGCAAGGCACCCATTCCCTAGCCCTCCTGCCCACCAAACTGTTCTTGAATAACCCTAGCCTCTGAATTTTCAGGGAGGCTGATTCAAGTAATAAAACTCCCATCTCCCATTTAGCTGGATGTATGTGGATTAAACTCTCTCTATTGCAATCCCTCTGTCTCGATAAATTGGCTCTATCTGGACAGTGGGCAAGATGAACCCCCTGGGCAGTCATAGGCTGTGAACTCTTAAATCCAGGGAGATGTTTGCTGTCAATGTCCGCAGGGTTCAAGGCAGAAGACAAGGACAGTGTAGCCTGAACTGGGTGGGAAAAGAGAGGACAGCAAGGCCTCCAGTGCCCAAGGGGGCTTGTTGGAGTTGAGGGGTGTCACTGTAGTTTAGGAGATGAGGGTGTGTAAGGCCCTCTAATATGACCTCTAGGTTTACAGCCTCCTGCCATCTTCCAGCCTCCAAAACCCAAAAATTCAGGCCAACGCTGAAGCTTTATCTGGGAGGGGCATTTTTATAGGACCCATAACCATTGACAGTTAATATCAGCCACAATAAGGGACCTTCAGGAGCCGCTTTCTAGACCCAGGGTCTCTGGGAAGCCTCATCCCACACCCTCTCCTGCTGTCCAGGGCCATCTGGGAGCTGGTCTGAGTGTCCACTGAGTCCGTTTATTTGGCGGTCTGTCTCACTGGGTTTGCACGACAGTTTGGACATCTCTGTGTGGCTCCCTGTGGCTGAAGGCTTGTCGGATTTTCCGTAAGAGGCTCCCCCAGGGCTGTCTATGGGTCCGTGTTTGATATTTGGGTGGATCTTTGGGAACGCGAGTCCAGGAGAGGGTCCATTCGTGGGAAAACCACCCAGCATTGTGTCACGCGCGTCCGTGTGAAGAGACCACCAAACAGGCTTCTTGTCCCATCCCCAGTCACTAGGAGAGTCCAAGTGCCAGGGCAGGGCTCAAAGGTGGCGCTTCATGTGCAAGGCCAGGTGGTCAGAGCGCGAAAAAGCACGTGGGCAGAGCTGGCAGCGGAAGGGGCGCTGCCCCGTGTGTTTCCGGTAGTGGCGGGTCAGCTCGTCCGAGCGCGCGAATCTCCAGCCGCAGCCTTCCCACGTGCAGGCGTATGGCTTCTCCCCTAGGGGACAAGGAAGCCATAAGCGCCACTGTCTGCCCAGTCATGTCCCCGGGTCCCCTGCATCTGGCCACACCCCTTTACTCAGCCTGGGCTGGGACTAGGATGAACAAAGTGAGGCCCCTAGGGCACAAAATTTAAGGAGGCACTCACTCTCAGAGGCCAGCCAAGTCCAAGTCCCGCCCTCTGCAACCCTTCTTCCCCTGTAACTACAGCGGGCGCCGCGCCCTTTCTCATGTCCGGGGCCCCGCCCCCTCACCTGTGTGCGTGCGCAGATGCGCCTTCAGGTGGGAGCTCTTGGTGTAGCTCTTGCCGCAACCCGGGTGCGCGCACGTGTGCGCTGCCTGCCTCTTGCGCGCCCACGAACGTCGGCCTCGCTTGGATGGCGCGGTCTCGGCTATCACACCTGGATCCTCTGCAGTCCCCCCGAGTCCAGTGCCCACCGTCCCGGGTCCCAAACAACTCAGGAAGGAGGGGGACGTGGCGGGACCGGGCGCGGGTCCCTGGAGCCCGCGGAAGAGCTGGAAGTGCCCTTGGTACTGAGGCGCCGGGTACATCGCGGGGTACCCGGACAGTAGCCCGTAGGGGGCGCCCGACGCCGCAGGCACTGAAAGCCCGGTCCGCGGGAAGTAGCCACCCGAGGAGCCGGCGCCGGGCCCCGGGTACACCGGTTGCAGCGCCAGCGCCTTGGGCTCGGGGGCCGGGGCTGGAGCCAGGGCTGGGCCCACGAAGGCGTCGGGAGCCCGGGCTCGCAGGGCAGGGCGCACCCAACCCGAGTGATCCTCCGAACCCAAAAGCCCAGCCACCAGCCCCGGGCCGCCAGCATATGCGCCCAGAGTCTCGGGCGGCGGCGGATATTGCGCCCCGGAGGCCTCGCTGGGCGCCAGAGCGCAGGTCTGGGGCGCGCCACCGGGCTCCGGGCCCGAGAAGTTGGTGAGGAGGAGATCCAGGTCCCAGGTGGCGTCCGCGCCCCTCTCATCGTCCTCTTCCTCCCCGGGCTGGTCCTCAGACTTCACGTGGAGGGGCGGCTCCGTGGGGTCAGGAGGACCCGGGCCCATGTCCTGCGCCTCTTCGGAGCGCCACCACTGCGGGAGGGAGCAGGCAGCTCGAGGTTCGGTGGACACTGGGGTGCCCTGCCCAGGGACATCGCGGGCTGGACACTCTGACGCAGAGGCTTTGGAAAGGGGTCTTGTTTGCCTGTCTGTCTGTCCCACTTCCCCAACACTGCCCCTCTAACCGCCCCTCTCCCCGCTCCCCCCCCAGCTCCAGGGACAGAAACCGATCAGGTCTGGCTGGAGACAGGAGATAAGACTTCCACTATCTGGAACCACACTCGGGGATGGGGGAAGGGGTAGCAGAGCTGCTGGAGATGGAAAACTGGCAGGGGACGGGGGAGAGGATGCCAGCCTTGACTTAGTTTTCCCCCAGAACATCCCTCTCCTTCCCTGTCTCCCAAAACAAGATTAATTCCGAAATTTTGGATGTCCCCCAGACACACTCATCATTTCCCGCTGATATCTGGAAGATTGTCTGTGAGCCTAGATCTCGTTCCTTTTTTTTTTTTTTTTTCTTGAGATAGGGTCTTACTCTTTTGCCCAGGCTGGAGTGCAGTGGTGCAGCTCACTGTATCCTTAATCTCCTGGGCTCTAATGATCCTCCTGCATCAGCCTACGGAGTACCTGGGACTACAGGCACACGCCCCCATGCCTGGCCTAATGTTTTTGGTATTTTTTGTAGAGATAGGGTTTCACCATGTTGCCCAGGCTACCTTCGTTTTCTATTACCGAAATAGATCACACTTAGAACCTCAAACCCCTAGACCACCCTCCTCACCCCCTGCCAGACTAAGCTGAGATCTCCTCTCCTGGACTGAGCGTACCTCAGTCCTGGTTA 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TCTGACCTAACCAACTCCATCTTGCCTTTAATCTCCAAACTGCCCTTGCTTGGTCATTCCTGGAGTGGGGTCAAGCTAACTTTTTTTTTTTTTTTGACACGTTGTCTCACTCTGTCGCCCAGGCTGGAGTCCAGTGGTGTGATCTCAGCTCACTGCAACATCCGCCTCCTAGGTTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGCATGCGCCACATGCCCAGCTAATTTTTGTATTTTTGGTAGAGACTGGGTTTCACCATTTTTGGTAGAGATGGGGTTTCACCTTGGGGCTCAGGCTGGTGTCGAACTCCTGGGCTCAAGTGATCTGCCCGCCTCAGCCTGCCAAATTGCTGGGATTAAAGAGGGAGCCACCATGCCTGGCCCCAAGCTAATTTTGGGAGGAATTTAGTTTATAGCTTAAATGATAATAGCCCTTCCCCAAACTAAACTGCCTTTGTAGAAATAATGAAAGGGCACTAGGTTAGGAGGATGAGAGGAGCCTGAATTCTGCTAAACTGTAGGTGTAGTAGTTAAATTATGACCAGCCATTTTTCCGGCCGGGTGCGGTGCCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCTGGCAGATTACCTGAGGTCAGGATTTCGAAACCAGCCTGGCCAGCATTTCGAAACCCCATCTCTTCTAAAAATACAAAAATTAGCCCGGCATGGTGGCATGTGCCTGTAATCCTAGCTACCTGGTAGGCTGACACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGAACAACTGCACTCCAGCCTGGGCAAGAGCAAGACTCCATCTCAAAAACAAAAACAAAGATGGCCAGCCATTATTCTGGAGGTCACAAGGTTTGCAACTTCCCCAGTTATTTCTGCAAATAACATGACTATTGCAAAACCTAACGCTGGCCTTTTTAGATGTCTTTTTAGGCTTTTTGCATATCTGACAACTGGATGACTCCACCCAGACTAGCGACTCTATGGTCCCCACCCAGAAGCTGACTCAGCAACTGTTTTCCACAGCTCCAGGATTGCAGCAAGGCACCCATTCCCTAGCCCTCCTGCCCACCAAACTGTTCTTGAATAACCCTAGCCTCTGAATTTTCAGGGAGGCTGATTCAAGTAATAAAACTCCCATCTCCCATTTAGCTGGATGTATGTGGATTAAACTCTCTCTATTGCAATCCCTCTGTCTCGATAAATTGGCTCTATCTGGACAGTGGGCAAGATGAACCCCCTGGGCAGTCATAGGCTGTGAACTCTTAAATCCAGGGAGATGTTTGCTGTCAATGTCCGCAGGGTTCAAGGCAGAAGACAAGGACAGTGTAGCCTGAACTGGGTGGGAAAAGAGAGGACAGCAAGGCCTCCAGTGCCCAAGGGGGCTTGTTGGAGTTGAGGGGTGTCACTGTAGTTTAGGAGATGAGGGTGTGTAAGGCCCTCTAATATGACCTCTAGGTTTACAGCCTCCTGCCATCTTCCAGCCTCCAAAACCCAAAAATTCAGGCCAACGCTGAAGCTTTATCTGGGAGGGGCATTTTTATAGGACCCATAACCATTGACAGTTAATATCAGCCACAATAAGGGACCTTCAGGAGCCGCTTTCTAGACCCAGGGTCTCTGGGAAGCCTCATCCCACACCCTCTCCTGCTGTCCAGGGCCATCTGGGAGCTGGTCTGAGTGTCCACTGAGTCCGTTTATTTGGCGGTCTGTCTCACTGGGTTTGCACGACAGTTTGGACATCTCTGTGTGGCTCCCTGTGGCTGAAGGCTTGTCGGATTTTCCGTAAGAGGCTCCCCCAGGGCTGTCTATGGGTCCGTGTTTGATATTTGGGTGGATCTTTGGGAACGCGAGTCCAGGAGAGGGTCCATTCGTGGGAAAACCACCCAGCATTGTGTCACGCGCGTCCGTGTGAAGAGACCACCAAACAGGCTTCTTGTCCCATCCCCAGTCACTAGGAGAGTCCAAGTGCCAGGGCAGGGCTCAAAGGTGGCGCTTCATTTGCAAGGCCAGGTGGTCAGAGCGCGAAAAAGCACGTGGGCAGAGCTGGCAGCGGAAGGGGCGCTGCCCCGTGTGTTTCCGGTAGTGGCGGGTCAGCTCGTCCGAGCGCGCGAATCTCCAGCCGCAGCCTTCCCACGTGCAGGCGTATGGCTTCTCCCCTAGGGGACAAGGAAGCCATAAGCGCCACTGTCTGCCCAGTCATGTCCCCGGGTCCCCTGCATCTGGCCACACCCCTTTACTCAGCCTGGGCTGGGACTAGGATGAACAAAGTGAGGCCCCTAGGGCACAAAATTTAAGGAGGCACTCACTCTCAGAGGCCAGCCAAGTCCAAGTCCCGCCCTCTGCAACCCTTCTTCCCCTGTAACTACAGCGGGCGCCGCGCCCTTTCTCATGTCCGGGGCCCCGCCCCCTCACCTGTGTGCGTGCGCAGATGCGCCTTCAGGTGGGAGCTCTTGGTGTAGCTCTTGCCGCAACCCGGGTGCGCGCACGTGTGCGCTGCCTGCCTCTTGCGCGCCCACGAACGTCGGCCTCGCTTGGATGGCGCGGTCTCGGCTATCACACCTGGATCCTCTGCAGTCCCCCCGAGTCCAGTGCCCACCGTCCCGGGTCCCAAACAACTCAGGAAGGAGGGGGACGTGGCGGGACCGGGCGCGGGTCCCTGGAGCCCGCGGAAGAGCTGGAAGTGCCCTTGGTACTGAGGCGCCGGGTACATCGCGGGGTACCCGGACAGTAGCCCGTAGGGGGCGCCCGACGCCGCAGGCACTGAAAGCCCGGTCCGCGGGAAGTAGCCACCCGAGGAGCCGGCGCCGGGCCCCGGGTACACCGGTTGCAGCGCCAGCGCCTTGGGCTCGGGGGCCGGGGCTGGAGCCAGGGCTGGGCCCACGAAGGCGTCGGGAGCCCGGGCTCGCAGGGCAGGGCGCACCCAACCCGAGTGATCCTCCGAACCCAAAAGCCCAGCCACCAGCCCCGGGCCGCCAGCATATGCGCCCAGAGTCTCGGGCGGCGGCGGATATTGCGCCCCGGAGGCCTCGCTGGGCGCCAGAGCGCAGGTCTGGGGCGCGCCACCGGGCTCCGGGCCCGAGAAGTTGGTGAGGAGGAGATCCAGGTCCCAGGTGGCGTCCGCGCCCCTCTCATCGTCCTCTTCCTCCCCGGGCTGGTCCTCAGACTTCACGTGGAGGGGCGGCTCCGTGGGGTCAGGAGGACCCGGGCCCATGTCCTGCGCCTCTTCGGAGCGCCACCACTGCGGGAGGGAGCAGGCAGCTCGAGGTTCGGTGGACACTGGGGTGCCCTGCCCAGGGACATCGCGGGCTGGACACTCTGACGCAGAGGCTTTGGAAAGGGGTCTTGTTTGCCTGTCTGTCTGTCCCACTTCCCCAACACTGCCCCTCTAACCGCCCCTCTCCCCGCTCCCCCCCCAGCTCCAGGGACAGAAACCGATCAGGTCTGGCTGGAGACAGGAGATAAGACTTCCACTATCTGGAACCACACTCGGGGATGGGGGAAGGGGTAGCAGAGCTGCTGGAGATGGAAAACTGGCAGGGGACGGGGGAGAGGATGCCAGCCTTGACTTAGTTTTCCCCCAGAACATCCCTCTCCTTCCCTGTCTCCCAAAACAAGATTAATTCCGAAATTTTGGATGTCCCCCAGACACACTCATCATTTCCCGCTGATATCTGGAAGATTGTCTGTGAGCCTAGATCTCGTTCCTTTTTTTTTTTTTTTTTCTTGAGATAGGGTCTTACTCTTTTGCCCAGGCTGGAGTGCAGTGGTGCAGCTCACTGTATCCTTAATCTCCTGGGCTCTAATGATCCTCCTGCATCAGCCTACGGAGTACCTGGGACTACAGGCACACGCCCCCATGCCTGGCCTAATGTTTTTGGTATTTTTTGTAGAGATAGGGTTTCACCATGTTGCCCAGGCTACCTTCGTTTTCTATTACCGAAATAGATCACACTTAGAACCTCAAACCCCTAGACCACCCTCCTCACCCCCTGCCAGACTAAGCTGAGATCTCCTCTCCTGGACTGAGCGTACCTCAGTCCTGGTTA 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Task1_train_26573 | The gene KLF1, LOC117125591 (KLF transcription factor 1| CRISPRi-FlowFISH-validated PRDX2 and RAD23A regulatory element) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Congenital dyserythropoietic anemia type 4 | CTGGAGTGGGGTCAAGCTAACTTTTTTTTTTTTTTTGACACGTTGTCTCACTCTGTCGCCCAGGCTGGAGTCCAGTGGTGTGATCTCAGCTCACTGCAACATCCGCCTCCTAGGTTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGCATGCGCCACATGCCCAGCTAATTTTTGTATTTTTGGTAGAGACTGGGTTTCACCATTTTTGGTAGAGATGGGGTTTCACCTTGGGGCTCAGGCTGGTGTCGAACTCCTGGGCTCAAGTGATCTGCCCGCCTCAGCCTGCCAAATTGCTGGGATTAAAGAGGGAGCCACCATGCCTGGCCCCAAGCTAATTTTGGGAGGAATTTAGTTTATAGCTTAAATGATAATAGCCCTTCCCCAAACTAAACTGCCTTTGTAGAAATAATGAAAGGGCACTAGGTTAGGAGGATGAGAGGAGCCTGAATTCTGCTAAACTGTAGGTGTAGTAGTTAAATTATGACCAGCCATTTTTCCGGCCGGGTGCGGTGCCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCTGGCAGATTACCTGAGGTCAGGATTTCGAAACCAGCCTGGCCAGCATTTCGAAACCCCATCTCTTCTAAAAATACAAAAATTAGCCCGGCATGGTGGCATGTGCCTGTAATCCTAGCTACCTGGTAGGCTGACACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGAACAACTGCACTCCAGCCTGGGCAAGAGCAAGACTCCATCTCAAAAACAAAAACAAAGATGGCCAGCCATTATTCTGGAGGTCACAAGGTTTGCAACTTCCCCAGTTATTTCTGCAAATAACATGACTATTGCAAAACCTAACGCTGGCCTTTTTAGATGTCTTTTTAGGCTTTTTGCATATCTGACAACTGGATGACTCCACCCAGACTAGCGACTCTATGGTCCCCACCCAGAAGCTGACTCAGCAACTGTTTTCCACAGCTCCAGGATTGCAGCAAGGCACCCATTCCCTAGCCCTCCTGCCCACCAAACTGTTCTTGAATAACCCTAGCCTCTGAATTTTCAGGGAGGCTGATTCAAGTAATAAAACTCCCATCTCCCATTTAGCTGGATGTATGTGGATTAAACTCTCTCTATTGCAATCCCTCTGTCTCGATAAATTGGCTCTATCTGGACAGTGGGCAAGATGAACCCCCTGGGCAGTCATAGGCTGTGAACTCTTAAATCCAGGGAGATGTTTGCTGTCAATGTCCGCAGGGTTCAAGGCAGAAGACAAGGACAGTGTAGCCTGAACTGGGTGGGAAAAGAGAGGACAGCAAGGCCTCCAGTGCCCAAGGGGGCTTGTTGGAGTTGAGGGGTGTCACTGTAGTTTAGGAGATGAGGGTGTGTAAGGCCCTCTAATATGACCTCTAGGTTTACAGCCTCCTGCCATCTTCCAGCCTCCAAAACCCAAAAATTCAGGCCAACGCTGAAGCTTTATCTGGGAGGGGCATTTTTATAGGACCCATAACCATTGACAGTTAATATCAGCCACAATAAGGGACCTTCAGGAGCCGCTTTCTAGACCCAGGGTCTCTGGGAAGCCTCATCCCACACCCTCTCCTGCTGTCCAGGGCCATCTGGGAGCTGGTCTGAGTGTCCACTGAGTCCGTTTATTTGGCGGTCTGTCTCACTGGGTTTGCACGACAGTTTGGACATCTCTGTGTGGCTCCCTGTGGCTGAAGGCTTGTCGGATTTTCCGTAAGAGGCTCCCCCAGGGCTGTCTATGGGTCCGTGTTTGATATTTGGGTGGATCTTTGGGAACGCGAGTCCAGGAGAGGGTCCATTCGTGGGAAAACCACCCAGCATTGTGTCACGCGCGTCCGTGTGAAGAGACCACCAAACAGGCTTCTTGTCCCATCCCCAGTCACTAGGAGAGTCCAAGTGCCAGGGCAGGGCTCAAAGGTGGCGCTTCATGTGCAAGGCCAGGTGGTCAGAGCGCGAAAAAGCACGTGGGCAGAGCTGGCAGCGGAAGGGGCGCTGCCCCGTGTGTTTCCGGTAGTGGCGGGTCAGCTCGTCCGAGCGCGCGAATCTCCAGCCGCAGCCTTCCCACGTGCAGGCGTATGGCTTCTCCCCTAGGGGACAAGGAAGCCATAAGCGCCACTGTCTGCCCAGTCATGTCCCCGGGTCCCCTGCATCTGGCCACACCCCTTTACTCAGCCTGGGCTGGGACTAGGATGAACAAAGTGAGGCCCCTAGGGCACAAAATTTAAGGAGGCACTCACTCTCAGAGGCCAGCCAAGTCCAAGTCCCGCCCTCTGCAACCCTTCTTCCCCTGTAACTACAGCGGGCGCCGCGCCCTTTCTCATGTCCGGGGCCCCGCCCCCTCACCTGTGTGCGTGCGCAGATGCGCCTTCAGGTGGGAGCTCTTGGTGTAGCTCTTGCCGCAACCCGGGTGCGCGCACGTGTGCGCTGCCTGCCTCTTGCGCGCCCACGAACGTCGGCCTCGCTTGGATGGCGCGGTCTCGGCTATCACACCTGGATCCTCTGCAGTCCCCCCGAGTCCAGTGCCCACCGTCCCGGGTCCCAAACAACTCAGGAAGGAGGGGGACGTGGCGGGACCGGGCGCGGGTCCCTGGAGCCCGCGGAAGAGCTGGAAGTGCCCTTGGTACTGAGGCGCCGGGTACATCGCGGGGTACCCGGACAGTAGCCCGTAGGGGGCGCCCGACGCCGCAGGCACTGAAAGCCCGGTCCGCGGGAAGTAGCCACCCGAGGAGCCGGCGCCGGGCCCCGGGTACACCGGTTGCAGCGCCAGCGCCTTGGGCTCGGGGGCCGGGGCTGGAGCCAGGGCTGGGCCCACGAAGGCGTCGGGAGCCCGGGCTCGCAGGGCAGGGCGCACCCAACCCGAGTGATCCTCCGAACCCAAAAGCCCAGCCACCAGCCCCGGGCCGCCAGCATATGCGCCCAGAGTCTCGGGCGGCGGCGGATATTGCGCCCCGGAGGCCTCGCTGGGCGCCAGAGCGCAGGTCTGGGGCGCGCCACCGGGCTCCGGGCCCGAGAAGTTGGTGAGGAGGAGATCCAGGTCCCAGGTGGCGTCCGCGCCCCTCTCATCGTCCTCTTCCTCCCCGGGCTGGTCCTCAGACTTCACGTGGAGGGGCGGCTCCGTGGGGTCAGGAGGACCCGGGCCCATGTCCTGCGCCTCTTCGGAGCGCCACCACTGCGGGAGGGAGCAGGCAGCTCGAGGTTCGGTGGACACTGGGGTGCCCTGCCCAGGGACATCGCGGGCTGGACACTCTGACGCAGAGGCTTTGGAAAGGGGTCTTGTTTGCCTGTCTGTCTGTCCCACTTCCCCAACACTGCCCCTCTAACCGCCCCTCTCCCCGCTCCCCCCCCAGCTCCAGGGACAGAAACCGATCAGGTCTGGCTGGAGACAGGAGATAAGACTTCCACTATCTGGAACCACACTCGGGGATGGGGGAAGGGGTAGCAGAGCTGCTGGAGATGGAAAACTGGCAGGGGACGGGGGAGAGGATGCCAGCCTTGACTTAGTTTTCCCCCAGAACATCCCTCTCCTTCCCTGTCTCCCAAAACAAGATTAATTCCGAAATTTTGGATGTCCCCCAGACACACTCATCATTTCCCGCTGATATCTGGAAGATTGTCTGTGAGCCTAGATCTCGTTCCTTTTTTTTTTTTTTTTTCTTGAGATAGGGTCTTACTCTTTTGCCCAGGCTGGAGTGCAGTGGTGCAGCTCACTGTATCCTTAATCTCCTGGGCTCTAATGATCCTCCTGCATCAGCCTACGGAGTACCTGGGACTACAGGCACACGCCCCCATGCCTGGCCTAATGTTTTTGGTATTTTTTGTAGAGATAGGGTTTCACCATGTTGCCCAGGCTACCTTCGTTTTCTATTACCGAAATAGATCACACTTAGAACCTCAAACCCCTAGACCACCCTCCTCACCCCCTGCCAGACTAAGCTGAGATCTCCTCTCCTGGACTGAGCGTACCTCAGTCCTGGTTAAGTCTCTTGATTTCAGGTCAAGATGCAGGTCTGGACCCCAAGATCTGTGACTGTGGCCC 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CTGGAGTGGGGTCAAGCTAACTTTTTTTTTTTTTTTGACACGTTGTCTCACTCTGTCGCCCAGGCTGGAGTCCAGTGGTGTGATCTCAGCTCACTGCAACATCCGCCTCCTAGGTTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGCATGCGCCACATGCCCAGCTAATTTTTGTATTTTTGGTAGAGACTGGGTTTCACCATTTTTGGTAGAGATGGGGTTTCACCTTGGGGCTCAGGCTGGTGTCGAACTCCTGGGCTCAAGTGATCTGCCCGCCTCAGCCTGCCAAATTGCTGGGATTAAAGAGGGAGCCACCATGCCTGGCCCCAAGCTAATTTTGGGAGGAATTTAGTTTATAGCTTAAATGATAATAGCCCTTCCCCAAACTAAACTGCCTTTGTAGAAATAATGAAAGGGCACTAGGTTAGGAGGATGAGAGGAGCCTGAATTCTGCTAAACTGTAGGTGTAGTAGTTAAATTATGACCAGCCATTTTTCCGGCCGGGTGCGGTGCCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCTGGCAGATTACCTGAGGTCAGGATTTCGAAACCAGCCTGGCCAGCATTTCGAAACCCCATCTCTTCTAAAAATACAAAAATTAGCCCGGCATGGTGGCATGTGCCTGTAATCCTAGCTACCTGGTAGGCTGACACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGAACAACTGCACTCCAGCCTGGGCAAGAGCAAGACTCCATCTCAAAAACAAAAACAAAGATGGCCAGCCATTATTCTGGAGGTCACAAGGTTTGCAACTTCCCCAGTTATTTCTGCAAATAACATGACTATTGCAAAACCTAACGCTGGCCTTTTTAGATGTCTTTTTAGGCTTTTTGCATATCTGACAACTGGATGACTCCACCCAGACTAGCGACTCTATGGTCCCCACCCAGAAGCTGACTCAGCAACTGTTTTCCACAGCTCCAGGATTGCAGCAAGGCACCCATTCCCTAGCCCTCCTGCCCACCAAACTGTTCTTGAATAACCCTAGCCTCTGAATTTTCAGGGAGGCTGATTCAAGTAATAAAACTCCCATCTCCCATTTAGCTGGATGTATGTGGATTAAACTCTCTCTATTGCAATCCCTCTGTCTCGATAAATTGGCTCTATCTGGACAGTGGGCAAGATGAACCCCCTGGGCAGTCATAGGCTGTGAACTCTTAAATCCAGGGAGATGTTTGCTGTCAATGTCCGCAGGGTTCAAGGCAGAAGACAAGGACAGTGTAGCCTGAACTGGGTGGGAAAAGAGAGGACAGCAAGGCCTCCAGTGCCCAAGGGGGCTTGTTGGAGTTGAGGGGTGTCACTGTAGTTTAGGAGATGAGGGTGTGTAAGGCCCTCTAATATGACCTCTAGGTTTACAGCCTCCTGCCATCTTCCAGCCTCCAAAACCCAAAAATTCAGGCCAACGCTGAAGCTTTATCTGGGAGGGGCATTTTTATAGGACCCATAACCATTGACAGTTAATATCAGCCACAATAAGGGACCTTCAGGAGCCGCTTTCTAGACCCAGGGTCTCTGGGAAGCCTCATCCCACACCCTCTCCTGCTGTCCAGGGCCATCTGGGAGCTGGTCTGAGTGTCCACTGAGTCCGTTTATTTGGCGGTCTGTCTCACTGGGTTTGCACGACAGTTTGGACATCTCTGTGTGGCTCCCTGTGGCTGAAGGCTTGTCGGATTTTCCGTAAGAGGCTCCCCCAGGGCTGTCTATGGGTCCGTGTTTGATATTTGGGTGGATCTTTGGGAACGCGAGTCCAGGAGAGGGTCCATTCGTGGGAAAACCACCCAGCATTGTGTCACGCGCGTCCGTGTGAAGAGACCACCAAACAGGCTTCTTGTCCCATCCCCAGTCACTAGGAGAGTCCAAGTGCCAGGGCAGGGCTCAAAGGTGGCGCTTCATGTGCAAGGCCAGGTGGTCAGAGCGCGAAAAAGCACGTGGGCAGAGCTGGCAGCGGAAGGAGCGCTGCCCCGTGTGTTTCCGGTAGTGGCGGGTCAGCTCGTCCGAGCGCGCGAATCTCCAGCCGCAGCCTTCCCACGTGCAGGCGTATGGCTTCTCCCCTAGGGGACAAGGAAGCCATAAGCGCCACTGTCTGCCCAGTCATGTCCCCGGGTCCCCTGCATCTGGCCACACCCCTTTACTCAGCCTGGGCTGGGACTAGGATGAACAAAGTGAGGCCCCTAGGGCACAAAATTTAAGGAGGCACTCACTCTCAGAGGCCAGCCAAGTCCAAGTCCCGCCCTCTGCAACCCTTCTTCCCCTGTAACTACAGCGGGCGCCGCGCCCTTTCTCATGTCCGGGGCCCCGCCCCCTCACCTGTGTGCGTGCGCAGATGCGCCTTCAGGTGGGAGCTCTTGGTGTAGCTCTTGCCGCAACCCGGGTGCGCGCACGTGTGCGCTGCCTGCCTCTTGCGCGCCCACGAACGTCGGCCTCGCTTGGATGGCGCGGTCTCGGCTATCACACCTGGATCCTCTGCAGTCCCCCCGAGTCCAGTGCCCACCGTCCCGGGTCCCAAACAACTCAGGAAGGAGGGGGACGTGGCGGGACCGGGCGCGGGTCCCTGGAGCCCGCGGAAGAGCTGGAAGTGCCCTTGGTACTGAGGCGCCGGGTACATCGCGGGGTACCCGGACAGTAGCCCGTAGGGGGCGCCCGACGCCGCAGGCACTGAAAGCCCGGTCCGCGGGAAGTAGCCACCCGAGGAGCCGGCGCCGGGCCCCGGGTACACCGGTTGCAGCGCCAGCGCCTTGGGCTCGGGGGCCGGGGCTGGAGCCAGGGCTGGGCCCACGAAGGCGTCGGGAGCCCGGGCTCGCAGGGCAGGGCGCACCCAACCCGAGTGATCCTCCGAACCCAAAAGCCCAGCCACCAGCCCCGGGCCGCCAGCATATGCGCCCAGAGTCTCGGGCGGCGGCGGATATTGCGCCCCGGAGGCCTCGCTGGGCGCCAGAGCGCAGGTCTGGGGCGCGCCACCGGGCTCCGGGCCCGAGAAGTTGGTGAGGAGGAGATCCAGGTCCCAGGTGGCGTCCGCGCCCCTCTCATCGTCCTCTTCCTCCCCGGGCTGGTCCTCAGACTTCACGTGGAGGGGCGGCTCCGTGGGGTCAGGAGGACCCGGGCCCATGTCCTGCGCCTCTTCGGAGCGCCACCACTGCGGGAGGGAGCAGGCAGCTCGAGGTTCGGTGGACACTGGGGTGCCCTGCCCAGGGACATCGCGGGCTGGACACTCTGACGCAGAGGCTTTGGAAAGGGGTCTTGTTTGCCTGTCTGTCTGTCCCACTTCCCCAACACTGCCCCTCTAACCGCCCCTCTCCCCGCTCCCCCCCCAGCTCCAGGGACAGAAACCGATCAGGTCTGGCTGGAGACAGGAGATAAGACTTCCACTATCTGGAACCACACTCGGGGATGGGGGAAGGGGTAGCAGAGCTGCTGGAGATGGAAAACTGGCAGGGGACGGGGGAGAGGATGCCAGCCTTGACTTAGTTTTCCCCCAGAACATCCCTCTCCTTCCCTGTCTCCCAAAACAAGATTAATTCCGAAATTTTGGATGTCCCCCAGACACACTCATCATTTCCCGCTGATATCTGGAAGATTGTCTGTGAGCCTAGATCTCGTTCCTTTTTTTTTTTTTTTTTCTTGAGATAGGGTCTTACTCTTTTGCCCAGGCTGGAGTGCAGTGGTGCAGCTCACTGTATCCTTAATCTCCTGGGCTCTAATGATCCTCCTGCATCAGCCTACGGAGTACCTGGGACTACAGGCACACGCCCCCATGCCTGGCCTAATGTTTTTGGTATTTTTTGTAGAGATAGGGTTTCACCATGTTGCCCAGGCTACCTTCGTTTTCTATTACCGAAATAGATCACACTTAGAACCTCAAACCCCTAGACCACCCTCCTCACCCCCTGCCAGACTAAGCTGAGATCTCCTCTCCTGGACTGAGCGTACCTCAGTCCTGGTTAAGTCTCTTGATTTCAGGTCAAGATGCAGGTCTGGACCCCAAGATCTGTGACTGTGGCCC 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Task1_train_26574 | Gene KLF1, LOC117125591 (KLF transcription factor 1| CRISPRi-FlowFISH-validated PRDX2 and RAD23A regulatory element) on Chromosome 19 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6 | CTGGAGTGGGGTCAAGCTAACTTTTTTTTTTTTTTTGACACGTTGTCTCACTCTGTCGCCCAGGCTGGAGTCCAGTGGTGTGATCTCAGCTCACTGCAACATCCGCCTCCTAGGTTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGCATGCGCCACATGCCCAGCTAATTTTTGTATTTTTGGTAGAGACTGGGTTTCACCATTTTTGGTAGAGATGGGGTTTCACCTTGGGGCTCAGGCTGGTGTCGAACTCCTGGGCTCAAGTGATCTGCCCGCCTCAGCCTGCCAAATTGCTGGGATTAAAGAGGGAGCCACCATGCCTGGCCCCAAGCTAATTTTGGGAGGAATTTAGTTTATAGCTTAAATGATAATAGCCCTTCCCCAAACTAAACTGCCTTTGTAGAAATAATGAAAGGGCACTAGGTTAGGAGGATGAGAGGAGCCTGAATTCTGCTAAACTGTAGGTGTAGTAGTTAAATTATGACCAGCCATTTTTCCGGCCGGGTGCGGTGCCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCTGGCAGATTACCTGAGGTCAGGATTTCGAAACCAGCCTGGCCAGCATTTCGAAACCCCATCTCTTCTAAAAATACAAAAATTAGCCCGGCATGGTGGCATGTGCCTGTAATCCTAGCTACCTGGTAGGCTGACACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGAACAACTGCACTCCAGCCTGGGCAAGAGCAAGACTCCATCTCAAAAACAAAAACAAAGATGGCCAGCCATTATTCTGGAGGTCACAAGGTTTGCAACTTCCCCAGTTATTTCTGCAAATAACATGACTATTGCAAAACCTAACGCTGGCCTTTTTAGATGTCTTTTTAGGCTTTTTGCATATCTGACAACTGGATGACTCCACCCAGACTAGCGACTCTATGGTCCCCACCCAGAAGCTGACTCAGCAACTGTTTTCCACAGCTCCAGGATTGCAGCAAGGCACCCATTCCCTAGCCCTCCTGCCCACCAAACTGTTCTTGAATAACCCTAGCCTCTGAATTTTCAGGGAGGCTGATTCAAGTAATAAAACTCCCATCTCCCATTTAGCTGGATGTATGTGGATTAAACTCTCTCTATTGCAATCCCTCTGTCTCGATAAATTGGCTCTATCTGGACAGTGGGCAAGATGAACCCCCTGGGCAGTCATAGGCTGTGAACTCTTAAATCCAGGGAGATGTTTGCTGTCAATGTCCGCAGGGTTCAAGGCAGAAGACAAGGACAGTGTAGCCTGAACTGGGTGGGAAAAGAGAGGACAGCAAGGCCTCCAGTGCCCAAGGGGGCTTGTTGGAGTTGAGGGGTGTCACTGTAGTTTAGGAGATGAGGGTGTGTAAGGCCCTCTAATATGACCTCTAGGTTTACAGCCTCCTGCCATCTTCCAGCCTCCAAAACCCAAAAATTCAGGCCAACGCTGAAGCTTTATCTGGGAGGGGCATTTTTATAGGACCCATAACCATTGACAGTTAATATCAGCCACAATAAGGGACCTTCAGGAGCCGCTTTCTAGACCCAGGGTCTCTGGGAAGCCTCATCCCACACCCTCTCCTGCTGTCCAGGGCCATCTGGGAGCTGGTCTGAGTGTCCACTGAGTCCGTTTATTTGGCGGTCTGTCTCACTGGGTTTGCACGACAGTTTGGACATCTCTGTGTGGCTCCCTGTGGCTGAAGGCTTGTCGGATTTTCCGTAAGAGGCTCCCCCAGGGCTGTCTATGGGTCCGTGTTTGATATTTGGGTGGATCTTTGGGAACGCGAGTCCAGGAGAGGGTCCATTCGTGGGAAAACCACCCAGCATTGTGTCACGCGCGTCCGTGTGAAGAGACCACCAAACAGGCTTCTTGTCCCATCCCCAGTCACTAGGAGAGTCCAAGTGCCAGGGCAGGGCTCAAAGGTGGCGCTTCATGTGCAAGGCCAGGTGGTCAGAGCGCGAAAAAGCACGTGGGCAGAGCTGGCAGCGGAAGGGGCGCTGCCCCGTGTGTTTCCGGTAGTGGCGGGTCAGCTCGTCCGAGCGCGCGAATCTCCAGCCGCAGCCTTCCCACGTGCAGGCGTATGGCTTCTCCCCTAGGGGACAAGGAAGCCATAAGCGCCACTGTCTGCCCAGTCATGTCCCCGGGTCCCCTGCATCTGGCCACACCCCTTTACTCAGCCTGGGCTGGGACTAGGATGAACAAAGTGAGGCCCCTAGGGCACAAAATTTAAGGAGGCACTCACTCTCAGAGGCCAGCCAAGTCCAAGTCCCGCCCTCTGCAACCCTTCTTCCCCTGTAACTACAGCGGGCGCCGCGCCCTTTCTCATGTCCGGGGCCCCGCCCCCTCACCTGTGTGCGTGCGCAGATGCGCCTTCAGGTGGGAGCTCTTGGTGTAGCTCTTGCCGCAACCCGGGTGCGCGCACGTGTGCGCTGCCTGCCTCTTGCGCGCCCACGAACGTCGGCCTCGCTTGGATGGCGCGGTCTCGGCTATCACACCTGGATCCTCTGCAGTCCCCCCGAGTCCAGTGCCCACCGTCCCGGGTCCCAAACAACTCAGGAAGGAGGGGGACGTGGCGGGACCGGGCGCGGGTCCCTGGAGCCCGCGGAAGAGCTGGAAGTGCCCTTGGTACTGAGGCGCCGGGTACATCGCGGGGTACCCGGACAGTAGCCCGTAGGGGGCGCCCGACGCCGCAGGCACTGAAAGCCCGGTCCGCGGGAAGTAGCCACCCGAGGAGCCGGCGCCGGGCCCCGGGTACACCGGTTGCAGCGCCAGCGCCTTGGGCTCGGGGGCCGGGGCTGGAGCCAGGGCTGGGCCCACGAAGGCGTCGGGAGCCCGGGCTCGCAGGGCAGGGCGCACCCAACCCGAGTGATCCTCCGAACCCAAAAGCCCAGCCACCAGCCCCGGGCCGCCAGCATATGCGCCCAGAGTCTCGGGCGGCGGCGGATATTGCGCCCCGGAGGCCTCGCTGGGCGCCAGAGCGCAGGTCTGGGGCGCGCCACCGGGCTCCGGGCCCGAGAAGTTGGTGAGGAGGAGATCCAGGTCCCAGGTGGCGTCCGCGCCCCTCTCATCGTCCTCTTCCTCCCCGGGCTGGTCCTCAGACTTCACGTGGAGGGGCGGCTCCGTGGGGTCAGGAGGACCCGGGCCCATGTCCTGCGCCTCTTCGGAGCGCCACCACTGCGGGAGGGAGCAGGCAGCTCGAGGTTCGGTGGACACTGGGGTGCCCTGCCCAGGGACATCGCGGGCTGGACACTCTGACGCAGAGGCTTTGGAAAGGGGTCTTGTTTGCCTGTCTGTCTGTCCCACTTCCCCAACACTGCCCCTCTAACCGCCCCTCTCCCCGCTCCCCCCCCAGCTCCAGGGACAGAAACCGATCAGGTCTGGCTGGAGACAGGAGATAAGACTTCCACTATCTGGAACCACACTCGGGGATGGGGGAAGGGGTAGCAGAGCTGCTGGAGATGGAAAACTGGCAGGGGACGGGGGAGAGGATGCCAGCCTTGACTTAGTTTTCCCCCAGAACATCCCTCTCCTTCCCTGTCTCCCAAAACAAGATTAATTCCGAAATTTTGGATGTCCCCCAGACACACTCATCATTTCCCGCTGATATCTGGAAGATTGTCTGTGAGCCTAGATCTCGTTCCTTTTTTTTTTTTTTTTTCTTGAGATAGGGTCTTACTCTTTTGCCCAGGCTGGAGTGCAGTGGTGCAGCTCACTGTATCCTTAATCTCCTGGGCTCTAATGATCCTCCTGCATCAGCCTACGGAGTACCTGGGACTACAGGCACACGCCCCCATGCCTGGCCTAATGTTTTTGGTATTTTTTGTAGAGATAGGGTTTCACCATGTTGCCCAGGCTACCTTCGTTTTCTATTACCGAAATAGATCACACTTAGAACCTCAAACCCCTAGACCACCCTCCTCACCCCCTGCCAGACTAAGCTGAGATCTCCTCTCCTGGACTGAGCGTACCTCAGTCCTGGTTAAGTCTCTTGATTTCAGGTCAAGATGCAGGTCTGGACCCCAAGATCTGTGACTGTGGCCC 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CTGGAGTGGGGTCAAGCTAACTTTTTTTTTTTTTTTGACACGTTGTCTCACTCTGTCGCCCAGGCTGGAGTCCAGTGGTGTGATCTCAGCTCACTGCAACATCCGCCTCCTAGGTTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGCATGCGCCACATGCCCAGCTAATTTTTGTATTTTTGGTAGAGACTGGGTTTCACCATTTTTGGTAGAGATGGGGTTTCACCTTGGGGCTCAGGCTGGTGTCGAACTCCTGGGCTCAAGTGATCTGCCCGCCTCAGCCTGCCAAATTGCTGGGATTAAAGAGGGAGCCACCATGCCTGGCCCCAAGCTAATTTTGGGAGGAATTTAGTTTATAGCTTAAATGATAATAGCCCTTCCCCAAACTAAACTGCCTTTGTAGAAATAATGAAAGGGCACTAGGTTAGGAGGATGAGAGGAGCCTGAATTCTGCTAAACTGTAGGTGTAGTAGTTAAATTATGACCAGCCATTTTTCCGGCCGGGTGCGGTGCCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCTGGCAGATTACCTGAGGTCAGGATTTCGAAACCAGCCTGGCCAGCATTTCGAAACCCCATCTCTTCTAAAAATACAAAAATTAGCCCGGCATGGTGGCATGTGCCTGTAATCCTAGCTACCTGGTAGGCTGACACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGAACAACTGCACTCCAGCCTGGGCAAGAGCAAGACTCCATCTCAAAAACAAAAACAAAGATGGCCAGCCATTATTCTGGAGGTCACAAGGTTTGCAACTTCCCCAGTTATTTCTGCAAATAACATGACTATTGCAAAACCTAACGCTGGCCTTTTTAGATGTCTTTTTAGGCTTTTTGCATATCTGACAACTGGATGACTCCACCCAGACTAGCGACTCTATGGTCCCCACCCAGAAGCTGACTCAGCAACTGTTTTCCACAGCTCCAGGATTGCAGCAAGGCACCCATTCCCTAGCCCTCCTGCCCACCAAACTGTTCTTGAATAACCCTAGCCTCTGAATTTTCAGGGAGGCTGATTCAAGTAATAAAACTCCCATCTCCCATTTAGCTGGATGTATGTGGATTAAACTCTCTCTATTGCAATCCCTCTGTCTCGATAAATTGGCTCTATCTGGACAGTGGGCAAGATGAACCCCCTGGGCAGTCATAGGCTGTGAACTCTTAAATCCAGGGAGATGTTTGCTGTCAATGTCCGCAGGGTTCAAGGCAGAAGACAAGGACAGTGTAGCCTGAACTGGGTGGGAAAAGAGAGGACAGCAAGGCCTCCAGTGCCCAAGGGGGCTTGTTGGAGTTGAGGGGTGTCACTGTAGTTTAGGAGATGAGGGTGTGTAAGGCCCTCTAATATGACCTCTAGGTTTACAGCCTCCTGCCATCTTCCAGCCTCCAAAACCCAAAAATTCAGGCCAACGCTGAAGCTTTATCTGGGAGGGGCATTTTTATAGGACCCATAACCATTGACAGTTAATATCAGCCACAATAAGGGACCTTCAGGAGCCGCTTTCTAGACCCAGGGTCTCTGGGAAGCCTCATCCCACACCCTCTCCTGCTGTCCAGGGCCATCTGGGAGCTGGTCTGAGTGTCCACTGAGTCCGTTTATTTGGCGGTCTGTCTCACTGGGTTTGCACGACAGTTTGGACATCTCTGTGTGGCTCCCTGTGGCTGAAGGCTTGTCGGATTTTCCGTAAGAGGCTCCCCCAGGGCTGTCTATGGGTCCGTGTTTGATATTTGGGTGGATCTTTGGGAACGCGAGTCCAGGAGAGGGTCCATTCGTGGGAAAACCACCCAGCATTGTGTCACGCGCGTCCGTGTGAAGAGACCACCAAACAGGCTTCTTGTCCCATCCCCAGTCACTAGGAGAGTCCAAGTGCCAGGGCAGGGCTCAAAGGTGGCGCTTCATGTGCAAGGCCAGGTGGTCAGAGCGCGAAAAAGCACGTGGGCAGAGCTGGCAGCGGAAGGAGCGCTGCCCCGTGTGTTTCCGGTAGTGGCGGGTCAGCTCGTCCGAGCGCGCGAATCTCCAGCCGCAGCCTTCCCACGTGCAGGCGTATGGCTTCTCCCCTAGGGGACAAGGAAGCCATAAGCGCCACTGTCTGCCCAGTCATGTCCCCGGGTCCCCTGCATCTGGCCACACCCCTTTACTCAGCCTGGGCTGGGACTAGGATGAACAAAGTGAGGCCCCTAGGGCACAAAATTTAAGGAGGCACTCACTCTCAGAGGCCAGCCAAGTCCAAGTCCCGCCCTCTGCAACCCTTCTTCCCCTGTAACTACAGCGGGCGCCGCGCCCTTTCTCATGTCCGGGGCCCCGCCCCCTCACCTGTGTGCGTGCGCAGATGCGCCTTCAGGTGGGAGCTCTTGGTGTAGCTCTTGCCGCAACCCGGGTGCGCGCACGTGTGCGCTGCCTGCCTCTTGCGCGCCCACGAACGTCGGCCTCGCTTGGATGGCGCGGTCTCGGCTATCACACCTGGATCCTCTGCAGTCCCCCCGAGTCCAGTGCCCACCGTCCCGGGTCCCAAACAACTCAGGAAGGAGGGGGACGTGGCGGGACCGGGCGCGGGTCCCTGGAGCCCGCGGAAGAGCTGGAAGTGCCCTTGGTACTGAGGCGCCGGGTACATCGCGGGGTACCCGGACAGTAGCCCGTAGGGGGCGCCCGACGCCGCAGGCACTGAAAGCCCGGTCCGCGGGAAGTAGCCACCCGAGGAGCCGGCGCCGGGCCCCGGGTACACCGGTTGCAGCGCCAGCGCCTTGGGCTCGGGGGCCGGGGCTGGAGCCAGGGCTGGGCCCACGAAGGCGTCGGGAGCCCGGGCTCGCAGGGCAGGGCGCACCCAACCCGAGTGATCCTCCGAACCCAAAAGCCCAGCCACCAGCCCCGGGCCGCCAGCATATGCGCCCAGAGTCTCGGGCGGCGGCGGATATTGCGCCCCGGAGGCCTCGCTGGGCGCCAGAGCGCAGGTCTGGGGCGCGCCACCGGGCTCCGGGCCCGAGAAGTTGGTGAGGAGGAGATCCAGGTCCCAGGTGGCGTCCGCGCCCCTCTCATCGTCCTCTTCCTCCCCGGGCTGGTCCTCAGACTTCACGTGGAGGGGCGGCTCCGTGGGGTCAGGAGGACCCGGGCCCATGTCCTGCGCCTCTTCGGAGCGCCACCACTGCGGGAGGGAGCAGGCAGCTCGAGGTTCGGTGGACACTGGGGTGCCCTGCCCAGGGACATCGCGGGCTGGACACTCTGACGCAGAGGCTTTGGAAAGGGGTCTTGTTTGCCTGTCTGTCTGTCCCACTTCCCCAACACTGCCCCTCTAACCGCCCCTCTCCCCGCTCCCCCCCCAGCTCCAGGGACAGAAACCGATCAGGTCTGGCTGGAGACAGGAGATAAGACTTCCACTATCTGGAACCACACTCGGGGATGGGGGAAGGGGTAGCAGAGCTGCTGGAGATGGAAAACTGGCAGGGGACGGGGGAGAGGATGCCAGCCTTGACTTAGTTTTCCCCCAGAACATCCCTCTCCTTCCCTGTCTCCCAAAACAAGATTAATTCCGAAATTTTGGATGTCCCCCAGACACACTCATCATTTCCCGCTGATATCTGGAAGATTGTCTGTGAGCCTAGATCTCGTTCCTTTTTTTTTTTTTTTTTCTTGAGATAGGGTCTTACTCTTTTGCCCAGGCTGGAGTGCAGTGGTGCAGCTCACTGTATCCTTAATCTCCTGGGCTCTAATGATCCTCCTGCATCAGCCTACGGAGTACCTGGGACTACAGGCACACGCCCCCATGCCTGGCCTAATGTTTTTGGTATTTTTTGTAGAGATAGGGTTTCACCATGTTGCCCAGGCTACCTTCGTTTTCTATTACCGAAATAGATCACACTTAGAACCTCAAACCCCTAGACCACCCTCCTCACCCCCTGCCAGACTAAGCTGAGATCTCCTCTCCTGGACTGAGCGTACCTCAGTCCTGGTTAAGTCTCTTGATTTCAGGTCAAGATGCAGGTCTGGACCCCAAGATCTGTGACTGTGGCCC 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Task1_train_26575 | A mutation in KLF1, LOC117125591 (KLF transcription factor 1| CRISPRi-FlowFISH-validated PRDX2 and RAD23A regulatory element), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; BLOOD GROUP--LUTHERAN INHIBITOR | CTGGAGTGGGGTCAAGCTAACTTTTTTTTTTTTTTTGACACGTTGTCTCACTCTGTCGCCCAGGCTGGAGTCCAGTGGTGTGATCTCAGCTCACTGCAACATCCGCCTCCTAGGTTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGCATGCGCCACATGCCCAGCTAATTTTTGTATTTTTGGTAGAGACTGGGTTTCACCATTTTTGGTAGAGATGGGGTTTCACCTTGGGGCTCAGGCTGGTGTCGAACTCCTGGGCTCAAGTGATCTGCCCGCCTCAGCCTGCCAAATTGCTGGGATTAAAGAGGGAGCCACCATGCCTGGCCCCAAGCTAATTTTGGGAGGAATTTAGTTTATAGCTTAAATGATAATAGCCCTTCCCCAAACTAAACTGCCTTTGTAGAAATAATGAAAGGGCACTAGGTTAGGAGGATGAGAGGAGCCTGAATTCTGCTAAACTGTAGGTGTAGTAGTTAAATTATGACCAGCCATTTTTCCGGCCGGGTGCGGTGCCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCTGGCAGATTACCTGAGGTCAGGATTTCGAAACCAGCCTGGCCAGCATTTCGAAACCCCATCTCTTCTAAAAATACAAAAATTAGCCCGGCATGGTGGCATGTGCCTGTAATCCTAGCTACCTGGTAGGCTGACACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGAACAACTGCACTCCAGCCTGGGCAAGAGCAAGACTCCATCTCAAAAACAAAAACAAAGATGGCCAGCCATTATTCTGGAGGTCACAAGGTTTGCAACTTCCCCAGTTATTTCTGCAAATAACATGACTATTGCAAAACCTAACGCTGGCCTTTTTAGATGTCTTTTTAGGCTTTTTGCATATCTGACAACTGGATGACTCCACCCAGACTAGCGACTCTATGGTCCCCACCCAGAAGCTGACTCAGCAACTGTTTTCCACAGCTCCAGGATTGCAGCAAGGCACCCATTCCCTAGCCCTCCTGCCCACCAAACTGTTCTTGAATAACCCTAGCCTCTGAATTTTCAGGGAGGCTGATTCAAGTAATAAAACTCCCATCTCCCATTTAGCTGGATGTATGTGGATTAAACTCTCTCTATTGCAATCCCTCTGTCTCGATAAATTGGCTCTATCTGGACAGTGGGCAAGATGAACCCCCTGGGCAGTCATAGGCTGTGAACTCTTAAATCCAGGGAGATGTTTGCTGTCAATGTCCGCAGGGTTCAAGGCAGAAGACAAGGACAGTGTAGCCTGAACTGGGTGGGAAAAGAGAGGACAGCAAGGCCTCCAGTGCCCAAGGGGGCTTGTTGGAGTTGAGGGGTGTCACTGTAGTTTAGGAGATGAGGGTGTGTAAGGCCCTCTAATATGACCTCTAGGTTTACAGCCTCCTGCCATCTTCCAGCCTCCAAAACCCAAAAATTCAGGCCAACGCTGAAGCTTTATCTGGGAGGGGCATTTTTATAGGACCCATAACCATTGACAGTTAATATCAGCCACAATAAGGGACCTTCAGGAGCCGCTTTCTAGACCCAGGGTCTCTGGGAAGCCTCATCCCACACCCTCTCCTGCTGTCCAGGGCCATCTGGGAGCTGGTCTGAGTGTCCACTGAGTCCGTTTATTTGGCGGTCTGTCTCACTGGGTTTGCACGACAGTTTGGACATCTCTGTGTGGCTCCCTGTGGCTGAAGGCTTGTCGGATTTTCCGTAAGAGGCTCCCCCAGGGCTGTCTATGGGTCCGTGTTTGATATTTGGGTGGATCTTTGGGAACGCGAGTCCAGGAGAGGGTCCATTCGTGGGAAAACCACCCAGCATTGTGTCACGCGCGTCCGTGTGAAGAGACCACCAAACAGGCTTCTTGTCCCATCCCCAGTCACTAGGAGAGTCCAAGTGCCAGGGCAGGGCTCAAAGGTGGCGCTTCATGTGCAAGGCCAGGTGGTCAGAGCGCGAAAAAGCACGTGGGCAGAGCTGGCAGCGGAAGGGGCGCTGCCCCGTGTGTTTCCGGTAGTGGCGGGTCAGCTCGTCCGAGCGCGCGAATCTCCAGCCGCAGCCTTCCCACGTGCAGGCGTATGGCTTCTCCCCTAGGGGACAAGGAAGCCATAAGCGCCACTGTCTGCCCAGTCATGTCCCCGGGTCCCCTGCATCTGGCCACACCCCTTTACTCAGCCTGGGCTGGGACTAGGATGAACAAAGTGAGGCCCCTAGGGCACAAAATTTAAGGAGGCACTCACTCTCAGAGGCCAGCCAAGTCCAAGTCCCGCCCTCTGCAACCCTTCTTCCCCTGTAACTACAGCGGGCGCCGCGCCCTTTCTCATGTCCGGGGCCCCGCCCCCTCACCTGTGTGCGTGCGCAGATGCGCCTTCAGGTGGGAGCTCTTGGTGTAGCTCTTGCCGCAACCCGGGTGCGCGCACGTGTGCGCTGCCTGCCTCTTGCGCGCCCACGAACGTCGGCCTCGCTTGGATGGCGCGGTCTCGGCTATCACACCTGGATCCTCTGCAGTCCCCCCGAGTCCAGTGCCCACCGTCCCGGGTCCCAAACAACTCAGGAAGGAGGGGGACGTGGCGGGACCGGGCGCGGGTCCCTGGAGCCCGCGGAAGAGCTGGAAGTGCCCTTGGTACTGAGGCGCCGGGTACATCGCGGGGTACCCGGACAGTAGCCCGTAGGGGGCGCCCGACGCCGCAGGCACTGAAAGCCCGGTCCGCGGGAAGTAGCCACCCGAGGAGCCGGCGCCGGGCCCCGGGTACACCGGTTGCAGCGCCAGCGCCTTGGGCTCGGGGGCCGGGGCTGGAGCCAGGGCTGGGCCCACGAAGGCGTCGGGAGCCCGGGCTCGCAGGGCAGGGCGCACCCAACCCGAGTGATCCTCCGAACCCAAAAGCCCAGCCACCAGCCCCGGGCCGCCAGCATATGCGCCCAGAGTCTCGGGCGGCGGCGGATATTGCGCCCCGGAGGCCTCGCTGGGCGCCAGAGCGCAGGTCTGGGGCGCGCCACCGGGCTCCGGGCCCGAGAAGTTGGTGAGGAGGAGATCCAGGTCCCAGGTGGCGTCCGCGCCCCTCTCATCGTCCTCTTCCTCCCCGGGCTGGTCCTCAGACTTCACGTGGAGGGGCGGCTCCGTGGGGTCAGGAGGACCCGGGCCCATGTCCTGCGCCTCTTCGGAGCGCCACCACTGCGGGAGGGAGCAGGCAGCTCGAGGTTCGGTGGACACTGGGGTGCCCTGCCCAGGGACATCGCGGGCTGGACACTCTGACGCAGAGGCTTTGGAAAGGGGTCTTGTTTGCCTGTCTGTCTGTCCCACTTCCCCAACACTGCCCCTCTAACCGCCCCTCTCCCCGCTCCCCCCCCAGCTCCAGGGACAGAAACCGATCAGGTCTGGCTGGAGACAGGAGATAAGACTTCCACTATCTGGAACCACACTCGGGGATGGGGGAAGGGGTAGCAGAGCTGCTGGAGATGGAAAACTGGCAGGGGACGGGGGAGAGGATGCCAGCCTTGACTTAGTTTTCCCCCAGAACATCCCTCTCCTTCCCTGTCTCCCAAAACAAGATTAATTCCGAAATTTTGGATGTCCCCCAGACACACTCATCATTTCCCGCTGATATCTGGAAGATTGTCTGTGAGCCTAGATCTCGTTCCTTTTTTTTTTTTTTTTTCTTGAGATAGGGTCTTACTCTTTTGCCCAGGCTGGAGTGCAGTGGTGCAGCTCACTGTATCCTTAATCTCCTGGGCTCTAATGATCCTCCTGCATCAGCCTACGGAGTACCTGGGACTACAGGCACACGCCCCCATGCCTGGCCTAATGTTTTTGGTATTTTTTGTAGAGATAGGGTTTCACCATGTTGCCCAGGCTACCTTCGTTTTCTATTACCGAAATAGATCACACTTAGAACCTCAAACCCCTAGACCACCCTCCTCACCCCCTGCCAGACTAAGCTGAGATCTCCTCTCCTGGACTGAGCGTACCTCAGTCCTGGTTAAGTCTCTTGATTTCAGGTCAAGATGCAGGTCTGGACCCCAAGATCTGTGACTGTGGCCC 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CTGGAGTGGGGTCAAGCTAACTTTTTTTTTTTTTTTGACACGTTGTCTCACTCTGTCGCCCAGGCTGGAGTCCAGTGGTGTGATCTCAGCTCACTGCAACATCCGCCTCCTAGGTTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGCATGCGCCACATGCCCAGCTAATTTTTGTATTTTTGGTAGAGACTGGGTTTCACCATTTTTGGTAGAGATGGGGTTTCACCTTGGGGCTCAGGCTGGTGTCGAACTCCTGGGCTCAAGTGATCTGCCCGCCTCAGCCTGCCAAATTGCTGGGATTAAAGAGGGAGCCACCATGCCTGGCCCCAAGCTAATTTTGGGAGGAATTTAGTTTATAGCTTAAATGATAATAGCCCTTCCCCAAACTAAACTGCCTTTGTAGAAATAATGAAAGGGCACTAGGTTAGGAGGATGAGAGGAGCCTGAATTCTGCTAAACTGTAGGTGTAGTAGTTAAATTATGACCAGCCATTTTTCCGGCCGGGTGCGGTGCCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCTGGCAGATTACCTGAGGTCAGGATTTCGAAACCAGCCTGGCCAGCATTTCGAAACCCCATCTCTTCTAAAAATACAAAAATTAGCCCGGCATGGTGGCATGTGCCTGTAATCCTAGCTACCTGGTAGGCTGACACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGAACAACTGCACTCCAGCCTGGGCAAGAGCAAGACTCCATCTCAAAAACAAAAACAAAGATGGCCAGCCATTATTCTGGAGGTCACAAGGTTTGCAACTTCCCCAGTTATTTCTGCAAATAACATGACTATTGCAAAACCTAACGCTGGCCTTTTTAGATGTCTTTTTAGGCTTTTTGCATATCTGACAACTGGATGACTCCACCCAGACTAGCGACTCTATGGTCCCCACCCAGAAGCTGACTCAGCAACTGTTTTCCACAGCTCCAGGATTGCAGCAAGGCACCCATTCCCTAGCCCTCCTGCCCACCAAACTGTTCTTGAATAACCCTAGCCTCTGAATTTTCAGGGAGGCTGATTCAAGTAATAAAACTCCCATCTCCCATTTAGCTGGATGTATGTGGATTAAACTCTCTCTATTGCAATCCCTCTGTCTCGATAAATTGGCTCTATCTGGACAGTGGGCAAGATGAACCCCCTGGGCAGTCATAGGCTGTGAACTCTTAAATCCAGGGAGATGTTTGCTGTCAATGTCCGCAGGGTTCAAGGCAGAAGACAAGGACAGTGTAGCCTGAACTGGGTGGGAAAAGAGAGGACAGCAAGGCCTCCAGTGCCCAAGGGGGCTTGTTGGAGTTGAGGGGTGTCACTGTAGTTTAGGAGATGAGGGTGTGTAAGGCCCTCTAATATGACCTCTAGGTTTACAGCCTCCTGCCATCTTCCAGCCTCCAAAACCCAAAAATTCAGGCCAACGCTGAAGCTTTATCTGGGAGGGGCATTTTTATAGGACCCATAACCATTGACAGTTAATATCAGCCACAATAAGGGACCTTCAGGAGCCGCTTTCTAGACCCAGGGTCTCTGGGAAGCCTCATCCCACACCCTCTCCTGCTGTCCAGGGCCATCTGGGAGCTGGTCTGAGTGTCCACTGAGTCCGTTTATTTGGCGGTCTGTCTCACTGGGTTTGCACGACAGTTTGGACATCTCTGTGTGGCTCCCTGTGGCTGAAGGCTTGTCGGATTTTCCGTAAGAGGCTCCCCCAGGGCTGTCTATGGGTCCGTGTTTGATATTTGGGTGGATCTTTGGGAACGCGAGTCCAGGAGAGGGTCCATTCGTGGGAAAACCACCCAGCATTGTGTCACGCGCGTCCGTGTGAAGAGACCACCAAACAGGCTTCTTGTCCCATCCCCAGTCACTAGGAGAGTCCAAGTGCCAGGGCAGGGCTCAAAGGTGGCGCTTCATGTGCAAGGCCAGGTGGTCAGAGCGCGAAAAAGCACGTGGGCAGAGCTGGCAGCGGAAGGAGCGCTGCCCCGTGTGTTTCCGGTAGTGGCGGGTCAGCTCGTCCGAGCGCGCGAATCTCCAGCCGCAGCCTTCCCACGTGCAGGCGTATGGCTTCTCCCCTAGGGGACAAGGAAGCCATAAGCGCCACTGTCTGCCCAGTCATGTCCCCGGGTCCCCTGCATCTGGCCACACCCCTTTACTCAGCCTGGGCTGGGACTAGGATGAACAAAGTGAGGCCCCTAGGGCACAAAATTTAAGGAGGCACTCACTCTCAGAGGCCAGCCAAGTCCAAGTCCCGCCCTCTGCAACCCTTCTTCCCCTGTAACTACAGCGGGCGCCGCGCCCTTTCTCATGTCCGGGGCCCCGCCCCCTCACCTGTGTGCGTGCGCAGATGCGCCTTCAGGTGGGAGCTCTTGGTGTAGCTCTTGCCGCAACCCGGGTGCGCGCACGTGTGCGCTGCCTGCCTCTTGCGCGCCCACGAACGTCGGCCTCGCTTGGATGGCGCGGTCTCGGCTATCACACCTGGATCCTCTGCAGTCCCCCCGAGTCCAGTGCCCACCGTCCCGGGTCCCAAACAACTCAGGAAGGAGGGGGACGTGGCGGGACCGGGCGCGGGTCCCTGGAGCCCGCGGAAGAGCTGGAAGTGCCCTTGGTACTGAGGCGCCGGGTACATCGCGGGGTACCCGGACAGTAGCCCGTAGGGGGCGCCCGACGCCGCAGGCACTGAAAGCCCGGTCCGCGGGAAGTAGCCACCCGAGGAGCCGGCGCCGGGCCCCGGGTACACCGGTTGCAGCGCCAGCGCCTTGGGCTCGGGGGCCGGGGCTGGAGCCAGGGCTGGGCCCACGAAGGCGTCGGGAGCCCGGGCTCGCAGGGCAGGGCGCACCCAACCCGAGTGATCCTCCGAACCCAAAAGCCCAGCCACCAGCCCCGGGCCGCCAGCATATGCGCCCAGAGTCTCGGGCGGCGGCGGATATTGCGCCCCGGAGGCCTCGCTGGGCGCCAGAGCGCAGGTCTGGGGCGCGCCACCGGGCTCCGGGCCCGAGAAGTTGGTGAGGAGGAGATCCAGGTCCCAGGTGGCGTCCGCGCCCCTCTCATCGTCCTCTTCCTCCCCGGGCTGGTCCTCAGACTTCACGTGGAGGGGCGGCTCCGTGGGGTCAGGAGGACCCGGGCCCATGTCCTGCGCCTCTTCGGAGCGCCACCACTGCGGGAGGGAGCAGGCAGCTCGAGGTTCGGTGGACACTGGGGTGCCCTGCCCAGGGACATCGCGGGCTGGACACTCTGACGCAGAGGCTTTGGAAAGGGGTCTTGTTTGCCTGTCTGTCTGTCCCACTTCCCCAACACTGCCCCTCTAACCGCCCCTCTCCCCGCTCCCCCCCCAGCTCCAGGGACAGAAACCGATCAGGTCTGGCTGGAGACAGGAGATAAGACTTCCACTATCTGGAACCACACTCGGGGATGGGGGAAGGGGTAGCAGAGCTGCTGGAGATGGAAAACTGGCAGGGGACGGGGGAGAGGATGCCAGCCTTGACTTAGTTTTCCCCCAGAACATCCCTCTCCTTCCCTGTCTCCCAAAACAAGATTAATTCCGAAATTTTGGATGTCCCCCAGACACACTCATCATTTCCCGCTGATATCTGGAAGATTGTCTGTGAGCCTAGATCTCGTTCCTTTTTTTTTTTTTTTTTCTTGAGATAGGGTCTTACTCTTTTGCCCAGGCTGGAGTGCAGTGGTGCAGCTCACTGTATCCTTAATCTCCTGGGCTCTAATGATCCTCCTGCATCAGCCTACGGAGTACCTGGGACTACAGGCACACGCCCCCATGCCTGGCCTAATGTTTTTGGTATTTTTTGTAGAGATAGGGTTTCACCATGTTGCCCAGGCTACCTTCGTTTTCTATTACCGAAATAGATCACACTTAGAACCTCAAACCCCTAGACCACCCTCCTCACCCCCTGCCAGACTAAGCTGAGATCTCCTCTCCTGGACTGAGCGTACCTCAGTCCTGGTTAAGTCTCTTGATTTCAGGTCAAGATGCAGGTCTGGACCCCAAGATCTGTGACTGTGGCCC 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Task1_train_26576 | Given this context: Chromosome 19, gene KLF1, LOC117125591 (KLF transcription factor 1| CRISPRi-FlowFISH-validated PRDX2 and RAD23A regulatory element) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; BLOOD GROUP--LUTHERAN INHIBITOR | TGACACGTTGTCTCACTCTGTCGCCCAGGCTGGAGTCCAGTGGTGTGATCTCAGCTCACTGCAACATCCGCCTCCTAGGTTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGCATGCGCCACATGCCCAGCTAATTTTTGTATTTTTGGTAGAGACTGGGTTTCACCATTTTTGGTAGAGATGGGGTTTCACCTTGGGGCTCAGGCTGGTGTCGAACTCCTGGGCTCAAGTGATCTGCCCGCCTCAGCCTGCCAAATTGCTGGGATTAAAGAGGGAGCCACCATGCCTGGCCCCAAGCTAATTTTGGGAGGAATTTAGTTTATAGCTTAAATGATAATAGCCCTTCCCCAAACTAAACTGCCTTTGTAGAAATAATGAAAGGGCACTAGGTTAGGAGGATGAGAGGAGCCTGAATTCTGCTAAACTGTAGGTGTAGTAGTTAAATTATGACCAGCCATTTTTCCGGCCGGGTGCGGTGCCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCTGGCAGATTACCTGAGGTCAGGATTTCGAAACCAGCCTGGCCAGCATTTCGAAACCCCATCTCTTCTAAAAATACAAAAATTAGCCCGGCATGGTGGCATGTGCCTGTAATCCTAGCTACCTGGTAGGCTGACACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGAACAACTGCACTCCAGCCTGGGCAAGAGCAAGACTCCATCTCAAAAACAAAAACAAAGATGGCCAGCCATTATTCTGGAGGTCACAAGGTTTGCAACTTCCCCAGTTATTTCTGCAAATAACATGACTATTGCAAAACCTAACGCTGGCCTTTTTAGATGTCTTTTTAGGCTTTTTGCATATCTGACAACTGGATGACTCCACCCAGACTAGCGACTCTATGGTCCCCACCCAGAAGCTGACTCAGCAACTGTTTTCCACAGCTCCAGGATTGCAGCAAGGCACCCATTCCCTAGCCCTCCTGCCCACCAAACTGTTCTTGAATAACCCTAGCCTCTGAATTTTCAGGGAGGCTGATTCAAGTAATAAAACTCCCATCTCCCATTTAGCTGGATGTATGTGGATTAAACTCTCTCTATTGCAATCCCTCTGTCTCGATAAATTGGCTCTATCTGGACAGTGGGCAAGATGAACCCCCTGGGCAGTCATAGGCTGTGAACTCTTAAATCCAGGGAGATGTTTGCTGTCAATGTCCGCAGGGTTCAAGGCAGAAGACAAGGACAGTGTAGCCTGAACTGGGTGGGAAAAGAGAGGACAGCAAGGCCTCCAGTGCCCAAGGGGGCTTGTTGGAGTTGAGGGGTGTCACTGTAGTTTAGGAGATGAGGGTGTGTAAGGCCCTCTAATATGACCTCTAGGTTTACAGCCTCCTGCCATCTTCCAGCCTCCAAAACCCAAAAATTCAGGCCAACGCTGAAGCTTTATCTGGGAGGGGCATTTTTATAGGACCCATAACCATTGACAGTTAATATCAGCCACAATAAGGGACCTTCAGGAGCCGCTTTCTAGACCCAGGGTCTCTGGGAAGCCTCATCCCACACCCTCTCCTGCTGTCCAGGGCCATCTGGGAGCTGGTCTGAGTGTCCACTGAGTCCGTTTATTTGGCGGTCTGTCTCACTGGGTTTGCACGACAGTTTGGACATCTCTGTGTGGCTCCCTGTGGCTGAAGGCTTGTCGGATTTTCCGTAAGAGGCTCCCCCAGGGCTGTCTATGGGTCCGTGTTTGATATTTGGGTGGATCTTTGGGAACGCGAGTCCAGGAGAGGGTCCATTCGTGGGAAAACCACCCAGCATTGTGTCACGCGCGTCCGTGTGAAGAGACCACCAAACAGGCTTCTTGTCCCATCCCCAGTCACTAGGAGAGTCCAAGTGCCAGGGCAGGGCTCAAAGGTGGCGCTTCATGTGCAAGGCCAGGTGGTCAGAGCGCGAAAAAGCACGTGGGCAGAGCTGGCAGCGGAAGGGGCGCTGCCCCGTGTGTTTCCGGTAGTGGCGGGTCAGCTCGTCCGAGCGCGCGAATCTCCAGCCGCAGCCTTCCCACGTGCAGGCGTATGGCTTCTCCCCTAGGGGACAAGGAAGCCATAAGCGCCACTGTCTGCCCAGTCATGTCCCCGGGTCCCCTGCATCTGGCCACACCCCTTTACTCAGCCTGGGCTGGGACTAGGATGAACAAAGTGAGGCCCCTAGGGCACAAAATTTAAGGAGGCACTCACTCTCAGAGGCCAGCCAAGTCCAAGTCCCGCCCTCTGCAACCCTTCTTCCCCTGTAACTACAGCGGGCGCCGCGCCCTTTCTCATGTCCGGGGCCCCGCCCCCTCACCTGTGTGCGTGCGCAGATGCGCCTTCAGGTGGGAGCTCTTGGTGTAGCTCTTGCCGCAACCCGGGTGCGCGCACGTGTGCGCTGCCTGCCTCTTGCGCGCCCACGAACGTCGGCCTCGCTTGGATGGCGCGGTCTCGGCTATCACACCTGGATCCTCTGCAGTCCCCCCGAGTCCAGTGCCCACCGTCCCGGGTCCCAAACAACTCAGGAAGGAGGGGGACGTGGCGGGACCGGGCGCGGGTCCCTGGAGCCCGCGGAAGAGCTGGAAGTGCCCTTGGTACTGAGGCGCCGGGTACATCGCGGGGTACCCGGACAGTAGCCCGTAGGGGGCGCCCGACGCCGCAGGCACTGAAAGCCCGGTCCGCGGGAAGTAGCCACCCGAGGAGCCGGCGCCGGGCCCCGGGTACACCGGTTGCAGCGCCAGCGCCTTGGGCTCGGGGGCCGGGGCTGGAGCCAGGGCTGGGCCCACGAAGGCGTCGGGAGCCCGGGCTCGCAGGGCAGGGCGCACCCAACCCGAGTGATCCTCCGAACCCAAAAGCCCAGCCACCAGCCCCGGGCCGCCAGCATATGCGCCCAGAGTCTCGGGCGGCGGCGGATATTGCGCCCCGGAGGCCTCGCTGGGCGCCAGAGCGCAGGTCTGGGGCGCGCCACCGGGCTCCGGGCCCGAGAAGTTGGTGAGGAGGAGATCCAGGTCCCAGGTGGCGTCCGCGCCCCTCTCATCGTCCTCTTCCTCCCCGGGCTGGTCCTCAGACTTCACGTGGAGGGGCGGCTCCGTGGGGTCAGGAGGACCCGGGCCCATGTCCTGCGCCTCTTCGGAGCGCCACCACTGCGGGAGGGAGCAGGCAGCTCGAGGTTCGGTGGACACTGGGGTGCCCTGCCCAGGGACATCGCGGGCTGGACACTCTGACGCAGAGGCTTTGGAAAGGGGTCTTGTTTGCCTGTCTGTCTGTCCCACTTCCCCAACACTGCCCCTCTAACCGCCCCTCTCCCCGCTCCCCCCCCAGCTCCAGGGACAGAAACCGATCAGGTCTGGCTGGAGACAGGAGATAAGACTTCCACTATCTGGAACCACACTCGGGGATGGGGGAAGGGGTAGCAGAGCTGCTGGAGATGGAAAACTGGCAGGGGACGGGGGAGAGGATGCCAGCCTTGACTTAGTTTTCCCCCAGAACATCCCTCTCCTTCCCTGTCTCCCAAAACAAGATTAATTCCGAAATTTTGGATGTCCCCCAGACACACTCATCATTTCCCGCTGATATCTGGAAGATTGTCTGTGAGCCTAGATCTCGTTCCTTTTTTTTTTTTTTTTTCTTGAGATAGGGTCTTACTCTTTTGCCCAGGCTGGAGTGCAGTGGTGCAGCTCACTGTATCCTTAATCTCCTGGGCTCTAATGATCCTCCTGCATCAGCCTACGGAGTACCTGGGACTACAGGCACACGCCCCCATGCCTGGCCTAATGTTTTTGGTATTTTTTGTAGAGATAGGGTTTCACCATGTTGCCCAGGCTACCTTCGTTTTCTATTACCGAAATAGATCACACTTAGAACCTCAAACCCCTAGACCACCCTCCTCACCCCCTGCCAGACTAAGCTGAGATCTCCTCTCCTGGACTGAGCGTACCTCAGTCCTGGTTAAGTCTCTTGATTTCAGGTCAAGATGCAGGTCTGGACCCCAAGATCTGTGACTGTGGCCCTGGATTCCAGCCAGCCCACCTAGACCCCACCTTCT 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TGACACGTTGTCTCACTCTGTCGCCCAGGCTGGAGTCCAGTGGTGTGATCTCAGCTCACTGCAACATCCGCCTCCTAGGTTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGCATGCGCCACATGCCCAGCTAATTTTTGTATTTTTGGTAGAGACTGGGTTTCACCATTTTTGGTAGAGATGGGGTTTCACCTTGGGGCTCAGGCTGGTGTCGAACTCCTGGGCTCAAGTGATCTGCCCGCCTCAGCCTGCCAAATTGCTGGGATTAAAGAGGGAGCCACCATGCCTGGCCCCAAGCTAATTTTGGGAGGAATTTAGTTTATAGCTTAAATGATAATAGCCCTTCCCCAAACTAAACTGCCTTTGTAGAAATAATGAAAGGGCACTAGGTTAGGAGGATGAGAGGAGCCTGAATTCTGCTAAACTGTAGGTGTAGTAGTTAAATTATGACCAGCCATTTTTCCGGCCGGGTGCGGTGCCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCTGGCAGATTACCTGAGGTCAGGATTTCGAAACCAGCCTGGCCAGCATTTCGAAACCCCATCTCTTCTAAAAATACAAAAATTAGCCCGGCATGGTGGCATGTGCCTGTAATCCTAGCTACCTGGTAGGCTGACACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGAACAACTGCACTCCAGCCTGGGCAAGAGCAAGACTCCATCTCAAAAACAAAAACAAAGATGGCCAGCCATTATTCTGGAGGTCACAAGGTTTGCAACTTCCCCAGTTATTTCTGCAAATAACATGACTATTGCAAAACCTAACGCTGGCCTTTTTAGATGTCTTTTTAGGCTTTTTGCATATCTGACAACTGGATGACTCCACCCAGACTAGCGACTCTATGGTCCCCACCCAGAAGCTGACTCAGCAACTGTTTTCCACAGCTCCAGGATTGCAGCAAGGCACCCATTCCCTAGCCCTCCTGCCCACCAAACTGTTCTTGAATAACCCTAGCCTCTGAATTTTCAGGGAGGCTGATTCAAGTAATAAAACTCCCATCTCCCATTTAGCTGGATGTATGTGGATTAAACTCTCTCTATTGCAATCCCTCTGTCTCGATAAATTGGCTCTATCTGGACAGTGGGCAAGATGAACCCCCTGGGCAGTCATAGGCTGTGAACTCTTAAATCCAGGGAGATGTTTGCTGTCAATGTCCGCAGGGTTCAAGGCAGAAGACAAGGACAGTGTAGCCTGAACTGGGTGGGAAAAGAGAGGACAGCAAGGCCTCCAGTGCCCAAGGGGGCTTGTTGGAGTTGAGGGGTGTCACTGTAGTTTAGGAGATGAGGGTGTGTAAGGCCCTCTAATATGACCTCTAGGTTTACAGCCTCCTGCCATCTTCCAGCCTCCAAAACCCAAAAATTCAGGCCAACGCTGAAGCTTTATCTGGGAGGGGCATTTTTATAGGACCCATAACCATTGACAGTTAATATCAGCCACAATAAGGGACCTTCAGGAGCCGCTTTCTAGACCCAGGGTCTCTGGGAAGCCTCATCCCACACCCTCTCCTGCTGTCCAGGGCCATCTGGGAGCTGGTCTGAGTGTCCACTGAGTCCGTTTATTTGGCGGTCTGTCTCACTGGGTTTGCACGACAGTTTGGACATCTCTGTGTGGCTCCCTGTGGCTGAAGGCTTGTCGGATTTTCCGTAAGAGGCTCCCCCAGGGCTGTCTATGGGTCCGTGTTTGATATTTGGGTGGATCTTTGGGAACGCGAGTCCAGGAGAGGGTCCATTCGTGGGAAAACCACCCAGCATTGTGTCACGCGCGTCCGTGTGAAGAGACCACCAAACAGGCTTCTTGTCCCATCCCCAGTCACTAGGAGAGTCCAAGTGCCAGGGCAGGGCTCAAAGGTGGCGCTTCATGTGCAAGGCCAGGTGGTCAGAGCGCGAAAAAGCACGTGGGCAGAGCTGGCAGCGGAAGGGGCGCTGCCCCGTGTGTTTCCGGTAGTGGCGGGTCCGCTCGTCCGAGCGCGCGAATCTCCAGCCGCAGCCTTCCCACGTGCAGGCGTATGGCTTCTCCCCTAGGGGACAAGGAAGCCATAAGCGCCACTGTCTGCCCAGTCATGTCCCCGGGTCCCCTGCATCTGGCCACACCCCTTTACTCAGCCTGGGCTGGGACTAGGATGAACAAAGTGAGGCCCCTAGGGCACAAAATTTAAGGAGGCACTCACTCTCAGAGGCCAGCCAAGTCCAAGTCCCGCCCTCTGCAACCCTTCTTCCCCTGTAACTACAGCGGGCGCCGCGCCCTTTCTCATGTCCGGGGCCCCGCCCCCTCACCTGTGTGCGTGCGCAGATGCGCCTTCAGGTGGGAGCTCTTGGTGTAGCTCTTGCCGCAACCCGGGTGCGCGCACGTGTGCGCTGCCTGCCTCTTGCGCGCCCACGAACGTCGGCCTCGCTTGGATGGCGCGGTCTCGGCTATCACACCTGGATCCTCTGCAGTCCCCCCGAGTCCAGTGCCCACCGTCCCGGGTCCCAAACAACTCAGGAAGGAGGGGGACGTGGCGGGACCGGGCGCGGGTCCCTGGAGCCCGCGGAAGAGCTGGAAGTGCCCTTGGTACTGAGGCGCCGGGTACATCGCGGGGTACCCGGACAGTAGCCCGTAGGGGGCGCCCGACGCCGCAGGCACTGAAAGCCCGGTCCGCGGGAAGTAGCCACCCGAGGAGCCGGCGCCGGGCCCCGGGTACACCGGTTGCAGCGCCAGCGCCTTGGGCTCGGGGGCCGGGGCTGGAGCCAGGGCTGGGCCCACGAAGGCGTCGGGAGCCCGGGCTCGCAGGGCAGGGCGCACCCAACCCGAGTGATCCTCCGAACCCAAAAGCCCAGCCACCAGCCCCGGGCCGCCAGCATATGCGCCCAGAGTCTCGGGCGGCGGCGGATATTGCGCCCCGGAGGCCTCGCTGGGCGCCAGAGCGCAGGTCTGGGGCGCGCCACCGGGCTCCGGGCCCGAGAAGTTGGTGAGGAGGAGATCCAGGTCCCAGGTGGCGTCCGCGCCCCTCTCATCGTCCTCTTCCTCCCCGGGCTGGTCCTCAGACTTCACGTGGAGGGGCGGCTCCGTGGGGTCAGGAGGACCCGGGCCCATGTCCTGCGCCTCTTCGGAGCGCCACCACTGCGGGAGGGAGCAGGCAGCTCGAGGTTCGGTGGACACTGGGGTGCCCTGCCCAGGGACATCGCGGGCTGGACACTCTGACGCAGAGGCTTTGGAAAGGGGTCTTGTTTGCCTGTCTGTCTGTCCCACTTCCCCAACACTGCCCCTCTAACCGCCCCTCTCCCCGCTCCCCCCCCAGCTCCAGGGACAGAAACCGATCAGGTCTGGCTGGAGACAGGAGATAAGACTTCCACTATCTGGAACCACACTCGGGGATGGGGGAAGGGGTAGCAGAGCTGCTGGAGATGGAAAACTGGCAGGGGACGGGGGAGAGGATGCCAGCCTTGACTTAGTTTTCCCCCAGAACATCCCTCTCCTTCCCTGTCTCCCAAAACAAGATTAATTCCGAAATTTTGGATGTCCCCCAGACACACTCATCATTTCCCGCTGATATCTGGAAGATTGTCTGTGAGCCTAGATCTCGTTCCTTTTTTTTTTTTTTTTTCTTGAGATAGGGTCTTACTCTTTTGCCCAGGCTGGAGTGCAGTGGTGCAGCTCACTGTATCCTTAATCTCCTGGGCTCTAATGATCCTCCTGCATCAGCCTACGGAGTACCTGGGACTACAGGCACACGCCCCCATGCCTGGCCTAATGTTTTTGGTATTTTTTGTAGAGATAGGGTTTCACCATGTTGCCCAGGCTACCTTCGTTTTCTATTACCGAAATAGATCACACTTAGAACCTCAAACCCCTAGACCACCCTCCTCACCCCCTGCCAGACTAAGCTGAGATCTCCTCTCCTGGACTGAGCGTACCTCAGTCCTGGTTAAGTCTCTTGATTTCAGGTCAAGATGCAGGTCTGGACCCCAAGATCTGTGACTGTGGCCCTGGATTCCAGCCAGCCCACCTAGACCCCACCTTCT 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Task1_train_26577 | Located on Chromosome 19, this mutation impacts KLF1, LOC117125591 (KLF transcription factor 1| CRISPRi-FlowFISH-validated PRDX2 and RAD23A regulatory element). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; BLOOD GROUP--LUTHERAN INHIBITOR | ACGTTGTCTCACTCTGTCGCCCAGGCTGGAGTCCAGTGGTGTGATCTCAGCTCACTGCAACATCCGCCTCCTAGGTTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGCATGCGCCACATGCCCAGCTAATTTTTGTATTTTTGGTAGAGACTGGGTTTCACCATTTTTGGTAGAGATGGGGTTTCACCTTGGGGCTCAGGCTGGTGTCGAACTCCTGGGCTCAAGTGATCTGCCCGCCTCAGCCTGCCAAATTGCTGGGATTAAAGAGGGAGCCACCATGCCTGGCCCCAAGCTAATTTTGGGAGGAATTTAGTTTATAGCTTAAATGATAATAGCCCTTCCCCAAACTAAACTGCCTTTGTAGAAATAATGAAAGGGCACTAGGTTAGGAGGATGAGAGGAGCCTGAATTCTGCTAAACTGTAGGTGTAGTAGTTAAATTATGACCAGCCATTTTTCCGGCCGGGTGCGGTGCCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCTGGCAGATTACCTGAGGTCAGGATTTCGAAACCAGCCTGGCCAGCATTTCGAAACCCCATCTCTTCTAAAAATACAAAAATTAGCCCGGCATGGTGGCATGTGCCTGTAATCCTAGCTACCTGGTAGGCTGACACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGAACAACTGCACTCCAGCCTGGGCAAGAGCAAGACTCCATCTCAAAAACAAAAACAAAGATGGCCAGCCATTATTCTGGAGGTCACAAGGTTTGCAACTTCCCCAGTTATTTCTGCAAATAACATGACTATTGCAAAACCTAACGCTGGCCTTTTTAGATGTCTTTTTAGGCTTTTTGCATATCTGACAACTGGATGACTCCACCCAGACTAGCGACTCTATGGTCCCCACCCAGAAGCTGACTCAGCAACTGTTTTCCACAGCTCCAGGATTGCAGCAAGGCACCCATTCCCTAGCCCTCCTGCCCACCAAACTGTTCTTGAATAACCCTAGCCTCTGAATTTTCAGGGAGGCTGATTCAAGTAATAAAACTCCCATCTCCCATTTAGCTGGATGTATGTGGATTAAACTCTCTCTATTGCAATCCCTCTGTCTCGATAAATTGGCTCTATCTGGACAGTGGGCAAGATGAACCCCCTGGGCAGTCATAGGCTGTGAACTCTTAAATCCAGGGAGATGTTTGCTGTCAATGTCCGCAGGGTTCAAGGCAGAAGACAAGGACAGTGTAGCCTGAACTGGGTGGGAAAAGAGAGGACAGCAAGGCCTCCAGTGCCCAAGGGGGCTTGTTGGAGTTGAGGGGTGTCACTGTAGTTTAGGAGATGAGGGTGTGTAAGGCCCTCTAATATGACCTCTAGGTTTACAGCCTCCTGCCATCTTCCAGCCTCCAAAACCCAAAAATTCAGGCCAACGCTGAAGCTTTATCTGGGAGGGGCATTTTTATAGGACCCATAACCATTGACAGTTAATATCAGCCACAATAAGGGACCTTCAGGAGCCGCTTTCTAGACCCAGGGTCTCTGGGAAGCCTCATCCCACACCCTCTCCTGCTGTCCAGGGCCATCTGGGAGCTGGTCTGAGTGTCCACTGAGTCCGTTTATTTGGCGGTCTGTCTCACTGGGTTTGCACGACAGTTTGGACATCTCTGTGTGGCTCCCTGTGGCTGAAGGCTTGTCGGATTTTCCGTAAGAGGCTCCCCCAGGGCTGTCTATGGGTCCGTGTTTGATATTTGGGTGGATCTTTGGGAACGCGAGTCCAGGAGAGGGTCCATTCGTGGGAAAACCACCCAGCATTGTGTCACGCGCGTCCGTGTGAAGAGACCACCAAACAGGCTTCTTGTCCCATCCCCAGTCACTAGGAGAGTCCAAGTGCCAGGGCAGGGCTCAAAGGTGGCGCTTCATGTGCAAGGCCAGGTGGTCAGAGCGCGAAAAAGCACGTGGGCAGAGCTGGCAGCGGAAGGGGCGCTGCCCCGTGTGTTTCCGGTAGTGGCGGGTCAGCTCGTCCGAGCGCGCGAATCTCCAGCCGCAGCCTTCCCACGTGCAGGCGTATGGCTTCTCCCCTAGGGGACAAGGAAGCCATAAGCGCCACTGTCTGCCCAGTCATGTCCCCGGGTCCCCTGCATCTGGCCACACCCCTTTACTCAGCCTGGGCTGGGACTAGGATGAACAAAGTGAGGCCCCTAGGGCACAAAATTTAAGGAGGCACTCACTCTCAGAGGCCAGCCAAGTCCAAGTCCCGCCCTCTGCAACCCTTCTTCCCCTGTAACTACAGCGGGCGCCGCGCCCTTTCTCATGTCCGGGGCCCCGCCCCCTCACCTGTGTGCGTGCGCAGATGCGCCTTCAGGTGGGAGCTCTTGGTGTAGCTCTTGCCGCAACCCGGGTGCGCGCACGTGTGCGCTGCCTGCCTCTTGCGCGCCCACGAACGTCGGCCTCGCTTGGATGGCGCGGTCTCGGCTATCACACCTGGATCCTCTGCAGTCCCCCCGAGTCCAGTGCCCACCGTCCCGGGTCCCAAACAACTCAGGAAGGAGGGGGACGTGGCGGGACCGGGCGCGGGTCCCTGGAGCCCGCGGAAGAGCTGGAAGTGCCCTTGGTACTGAGGCGCCGGGTACATCGCGGGGTACCCGGACAGTAGCCCGTAGGGGGCGCCCGACGCCGCAGGCACTGAAAGCCCGGTCCGCGGGAAGTAGCCACCCGAGGAGCCGGCGCCGGGCCCCGGGTACACCGGTTGCAGCGCCAGCGCCTTGGGCTCGGGGGCCGGGGCTGGAGCCAGGGCTGGGCCCACGAAGGCGTCGGGAGCCCGGGCTCGCAGGGCAGGGCGCACCCAACCCGAGTGATCCTCCGAACCCAAAAGCCCAGCCACCAGCCCCGGGCCGCCAGCATATGCGCCCAGAGTCTCGGGCGGCGGCGGATATTGCGCCCCGGAGGCCTCGCTGGGCGCCAGAGCGCAGGTCTGGGGCGCGCCACCGGGCTCCGGGCCCGAGAAGTTGGTGAGGAGGAGATCCAGGTCCCAGGTGGCGTCCGCGCCCCTCTCATCGTCCTCTTCCTCCCCGGGCTGGTCCTCAGACTTCACGTGGAGGGGCGGCTCCGTGGGGTCAGGAGGACCCGGGCCCATGTCCTGCGCCTCTTCGGAGCGCCACCACTGCGGGAGGGAGCAGGCAGCTCGAGGTTCGGTGGACACTGGGGTGCCCTGCCCAGGGACATCGCGGGCTGGACACTCTGACGCAGAGGCTTTGGAAAGGGGTCTTGTTTGCCTGTCTGTCTGTCCCACTTCCCCAACACTGCCCCTCTAACCGCCCCTCTCCCCGCTCCCCCCCCAGCTCCAGGGACAGAAACCGATCAGGTCTGGCTGGAGACAGGAGATAAGACTTCCACTATCTGGAACCACACTCGGGGATGGGGGAAGGGGTAGCAGAGCTGCTGGAGATGGAAAACTGGCAGGGGACGGGGGAGAGGATGCCAGCCTTGACTTAGTTTTCCCCCAGAACATCCCTCTCCTTCCCTGTCTCCCAAAACAAGATTAATTCCGAAATTTTGGATGTCCCCCAGACACACTCATCATTTCCCGCTGATATCTGGAAGATTGTCTGTGAGCCTAGATCTCGTTCCTTTTTTTTTTTTTTTTTCTTGAGATAGGGTCTTACTCTTTTGCCCAGGCTGGAGTGCAGTGGTGCAGCTCACTGTATCCTTAATCTCCTGGGCTCTAATGATCCTCCTGCATCAGCCTACGGAGTACCTGGGACTACAGGCACACGCCCCCATGCCTGGCCTAATGTTTTTGGTATTTTTTGTAGAGATAGGGTTTCACCATGTTGCCCAGGCTACCTTCGTTTTCTATTACCGAAATAGATCACACTTAGAACCTCAAACCCCTAGACCACCCTCCTCACCCCCTGCCAGACTAAGCTGAGATCTCCTCTCCTGGACTGAGCGTACCTCAGTCCTGGTTAAGTCTCTTGATTTCAGGTCAAGATGCAGGTCTGGACCCCAAGATCTGTGACTGTGGCCCTGGATTCCAGCCAGCCCACCTAGACCCCACCTTCTAGGC 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ACGTTGTCTCACTCTGTCGCCCAGGCTGGAGTCCAGTGGTGTGATCTCAGCTCACTGCAACATCCGCCTCCTAGGTTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGCATGCGCCACATGCCCAGCTAATTTTTGTATTTTTGGTAGAGACTGGGTTTCACCATTTTTGGTAGAGATGGGGTTTCACCTTGGGGCTCAGGCTGGTGTCGAACTCCTGGGCTCAAGTGATCTGCCCGCCTCAGCCTGCCAAATTGCTGGGATTAAAGAGGGAGCCACCATGCCTGGCCCCAAGCTAATTTTGGGAGGAATTTAGTTTATAGCTTAAATGATAATAGCCCTTCCCCAAACTAAACTGCCTTTGTAGAAATAATGAAAGGGCACTAGGTTAGGAGGATGAGAGGAGCCTGAATTCTGCTAAACTGTAGGTGTAGTAGTTAAATTATGACCAGCCATTTTTCCGGCCGGGTGCGGTGCCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCTGGCAGATTACCTGAGGTCAGGATTTCGAAACCAGCCTGGCCAGCATTTCGAAACCCCATCTCTTCTAAAAATACAAAAATTAGCCCGGCATGGTGGCATGTGCCTGTAATCCTAGCTACCTGGTAGGCTGACACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGAACAACTGCACTCCAGCCTGGGCAAGAGCAAGACTCCATCTCAAAAACAAAAACAAAGATGGCCAGCCATTATTCTGGAGGTCACAAGGTTTGCAACTTCCCCAGTTATTTCTGCAAATAACATGACTATTGCAAAACCTAACGCTGGCCTTTTTAGATGTCTTTTTAGGCTTTTTGCATATCTGACAACTGGATGACTCCACCCAGACTAGCGACTCTATGGTCCCCACCCAGAAGCTGACTCAGCAACTGTTTTCCACAGCTCCAGGATTGCAGCAAGGCACCCATTCCCTAGCCCTCCTGCCCACCAAACTGTTCTTGAATAACCCTAGCCTCTGAATTTTCAGGGAGGCTGATTCAAGTAATAAAACTCCCATCTCCCATTTAGCTGGATGTATGTGGATTAAACTCTCTCTATTGCAATCCCTCTGTCTCGATAAATTGGCTCTATCTGGACAGTGGGCAAGATGAACCCCCTGGGCAGTCATAGGCTGTGAACTCTTAAATCCAGGGAGATGTTTGCTGTCAATGTCCGCAGGGTTCAAGGCAGAAGACAAGGACAGTGTAGCCTGAACTGGGTGGGAAAAGAGAGGACAGCAAGGCCTCCAGTGCCCAAGGGGGCTTGTTGGAGTTGAGGGGTGTCACTGTAGTTTAGGAGATGAGGGTGTGTAAGGCCCTCTAATATGACCTCTAGGTTTACAGCCTCCTGCCATCTTCCAGCCTCCAAAACCCAAAAATTCAGGCCAACGCTGAAGCTTTATCTGGGAGGGGCATTTTTATAGGACCCATAACCATTGACAGTTAATATCAGCCACAATAAGGGACCTTCAGGAGCCGCTTTCTAGACCCAGGGTCTCTGGGAAGCCTCATCCCACACCCTCTCCTGCTGTCCAGGGCCATCTGGGAGCTGGTCTGAGTGTCCACTGAGTCCGTTTATTTGGCGGTCTGTCTCACTGGGTTTGCACGACAGTTTGGACATCTCTGTGTGGCTCCCTGTGGCTGAAGGCTTGTCGGATTTTCCGTAAGAGGCTCCCCCAGGGCTGTCTATGGGTCCGTGTTTGATATTTGGGTGGATCTTTGGGAACGCGAGTCCAGGAGAGGGTCCATTCGTGGGAAAACCACCCAGCATTGTGTCACGCGCGTCCGTGTGAAGAGACCACCAAACAGGCTTCTTGTCCCATCCCCAGTCACTAGGAGAGTCCAAGTGCCAGGGCAGGGCTCAAAGGTGGCGCTTCATGTGCAAGGCCAGGTGGTCAGAGCGCGAAAAAGCACGTGGGCAGAGCTGGCAGCGGAAGGGGCGCTGCCCCGTGTGTTTCCGGTAGTGGCGGGTCAGCTTGTCCGAGCGCGCGAATCTCCAGCCGCAGCCTTCCCACGTGCAGGCGTATGGCTTCTCCCCTAGGGGACAAGGAAGCCATAAGCGCCACTGTCTGCCCAGTCATGTCCCCGGGTCCCCTGCATCTGGCCACACCCCTTTACTCAGCCTGGGCTGGGACTAGGATGAACAAAGTGAGGCCCCTAGGGCACAAAATTTAAGGAGGCACTCACTCTCAGAGGCCAGCCAAGTCCAAGTCCCGCCCTCTGCAACCCTTCTTCCCCTGTAACTACAGCGGGCGCCGCGCCCTTTCTCATGTCCGGGGCCCCGCCCCCTCACCTGTGTGCGTGCGCAGATGCGCCTTCAGGTGGGAGCTCTTGGTGTAGCTCTTGCCGCAACCCGGGTGCGCGCACGTGTGCGCTGCCTGCCTCTTGCGCGCCCACGAACGTCGGCCTCGCTTGGATGGCGCGGTCTCGGCTATCACACCTGGATCCTCTGCAGTCCCCCCGAGTCCAGTGCCCACCGTCCCGGGTCCCAAACAACTCAGGAAGGAGGGGGACGTGGCGGGACCGGGCGCGGGTCCCTGGAGCCCGCGGAAGAGCTGGAAGTGCCCTTGGTACTGAGGCGCCGGGTACATCGCGGGGTACCCGGACAGTAGCCCGTAGGGGGCGCCCGACGCCGCAGGCACTGAAAGCCCGGTCCGCGGGAAGTAGCCACCCGAGGAGCCGGCGCCGGGCCCCGGGTACACCGGTTGCAGCGCCAGCGCCTTGGGCTCGGGGGCCGGGGCTGGAGCCAGGGCTGGGCCCACGAAGGCGTCGGGAGCCCGGGCTCGCAGGGCAGGGCGCACCCAACCCGAGTGATCCTCCGAACCCAAAAGCCCAGCCACCAGCCCCGGGCCGCCAGCATATGCGCCCAGAGTCTCGGGCGGCGGCGGATATTGCGCCCCGGAGGCCTCGCTGGGCGCCAGAGCGCAGGTCTGGGGCGCGCCACCGGGCTCCGGGCCCGAGAAGTTGGTGAGGAGGAGATCCAGGTCCCAGGTGGCGTCCGCGCCCCTCTCATCGTCCTCTTCCTCCCCGGGCTGGTCCTCAGACTTCACGTGGAGGGGCGGCTCCGTGGGGTCAGGAGGACCCGGGCCCATGTCCTGCGCCTCTTCGGAGCGCCACCACTGCGGGAGGGAGCAGGCAGCTCGAGGTTCGGTGGACACTGGGGTGCCCTGCCCAGGGACATCGCGGGCTGGACACTCTGACGCAGAGGCTTTGGAAAGGGGTCTTGTTTGCCTGTCTGTCTGTCCCACTTCCCCAACACTGCCCCTCTAACCGCCCCTCTCCCCGCTCCCCCCCCAGCTCCAGGGACAGAAACCGATCAGGTCTGGCTGGAGACAGGAGATAAGACTTCCACTATCTGGAACCACACTCGGGGATGGGGGAAGGGGTAGCAGAGCTGCTGGAGATGGAAAACTGGCAGGGGACGGGGGAGAGGATGCCAGCCTTGACTTAGTTTTCCCCCAGAACATCCCTCTCCTTCCCTGTCTCCCAAAACAAGATTAATTCCGAAATTTTGGATGTCCCCCAGACACACTCATCATTTCCCGCTGATATCTGGAAGATTGTCTGTGAGCCTAGATCTCGTTCCTTTTTTTTTTTTTTTTTCTTGAGATAGGGTCTTACTCTTTTGCCCAGGCTGGAGTGCAGTGGTGCAGCTCACTGTATCCTTAATCTCCTGGGCTCTAATGATCCTCCTGCATCAGCCTACGGAGTACCTGGGACTACAGGCACACGCCCCCATGCCTGGCCTAATGTTTTTGGTATTTTTTGTAGAGATAGGGTTTCACCATGTTGCCCAGGCTACCTTCGTTTTCTATTACCGAAATAGATCACACTTAGAACCTCAAACCCCTAGACCACCCTCCTCACCCCCTGCCAGACTAAGCTGAGATCTCCTCTCCTGGACTGAGCGTACCTCAGTCCTGGTTAAGTCTCTTGATTTCAGGTCAAGATGCAGGTCTGGACCCCAAGATCTGTGACTGTGGCCCTGGATTCCAGCCAGCCCACCTAGACCCCACCTTCTAGGC 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Task1_train_26578 | A variant affecting Chromosome 19, within the gene KLF1, LOC117125591 (KLF transcription factor 1| CRISPRi-FlowFISH-validated PRDX2 and RAD23A regulatory element), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Congenital dyserythropoietic anemia type 4 | ACGTTGTCTCACTCTGTCGCCCAGGCTGGAGTCCAGTGGTGTGATCTCAGCTCACTGCAACATCCGCCTCCTAGGTTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGCATGCGCCACATGCCCAGCTAATTTTTGTATTTTTGGTAGAGACTGGGTTTCACCATTTTTGGTAGAGATGGGGTTTCACCTTGGGGCTCAGGCTGGTGTCGAACTCCTGGGCTCAAGTGATCTGCCCGCCTCAGCCTGCCAAATTGCTGGGATTAAAGAGGGAGCCACCATGCCTGGCCCCAAGCTAATTTTGGGAGGAATTTAGTTTATAGCTTAAATGATAATAGCCCTTCCCCAAACTAAACTGCCTTTGTAGAAATAATGAAAGGGCACTAGGTTAGGAGGATGAGAGGAGCCTGAATTCTGCTAAACTGTAGGTGTAGTAGTTAAATTATGACCAGCCATTTTTCCGGCCGGGTGCGGTGCCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCTGGCAGATTACCTGAGGTCAGGATTTCGAAACCAGCCTGGCCAGCATTTCGAAACCCCATCTCTTCTAAAAATACAAAAATTAGCCCGGCATGGTGGCATGTGCCTGTAATCCTAGCTACCTGGTAGGCTGACACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGAACAACTGCACTCCAGCCTGGGCAAGAGCAAGACTCCATCTCAAAAACAAAAACAAAGATGGCCAGCCATTATTCTGGAGGTCACAAGGTTTGCAACTTCCCCAGTTATTTCTGCAAATAACATGACTATTGCAAAACCTAACGCTGGCCTTTTTAGATGTCTTTTTAGGCTTTTTGCATATCTGACAACTGGATGACTCCACCCAGACTAGCGACTCTATGGTCCCCACCCAGAAGCTGACTCAGCAACTGTTTTCCACAGCTCCAGGATTGCAGCAAGGCACCCATTCCCTAGCCCTCCTGCCCACCAAACTGTTCTTGAATAACCCTAGCCTCTGAATTTTCAGGGAGGCTGATTCAAGTAATAAAACTCCCATCTCCCATTTAGCTGGATGTATGTGGATTAAACTCTCTCTATTGCAATCCCTCTGTCTCGATAAATTGGCTCTATCTGGACAGTGGGCAAGATGAACCCCCTGGGCAGTCATAGGCTGTGAACTCTTAAATCCAGGGAGATGTTTGCTGTCAATGTCCGCAGGGTTCAAGGCAGAAGACAAGGACAGTGTAGCCTGAACTGGGTGGGAAAAGAGAGGACAGCAAGGCCTCCAGTGCCCAAGGGGGCTTGTTGGAGTTGAGGGGTGTCACTGTAGTTTAGGAGATGAGGGTGTGTAAGGCCCTCTAATATGACCTCTAGGTTTACAGCCTCCTGCCATCTTCCAGCCTCCAAAACCCAAAAATTCAGGCCAACGCTGAAGCTTTATCTGGGAGGGGCATTTTTATAGGACCCATAACCATTGACAGTTAATATCAGCCACAATAAGGGACCTTCAGGAGCCGCTTTCTAGACCCAGGGTCTCTGGGAAGCCTCATCCCACACCCTCTCCTGCTGTCCAGGGCCATCTGGGAGCTGGTCTGAGTGTCCACTGAGTCCGTTTATTTGGCGGTCTGTCTCACTGGGTTTGCACGACAGTTTGGACATCTCTGTGTGGCTCCCTGTGGCTGAAGGCTTGTCGGATTTTCCGTAAGAGGCTCCCCCAGGGCTGTCTATGGGTCCGTGTTTGATATTTGGGTGGATCTTTGGGAACGCGAGTCCAGGAGAGGGTCCATTCGTGGGAAAACCACCCAGCATTGTGTCACGCGCGTCCGTGTGAAGAGACCACCAAACAGGCTTCTTGTCCCATCCCCAGTCACTAGGAGAGTCCAAGTGCCAGGGCAGGGCTCAAAGGTGGCGCTTCATGTGCAAGGCCAGGTGGTCAGAGCGCGAAAAAGCACGTGGGCAGAGCTGGCAGCGGAAGGGGCGCTGCCCCGTGTGTTTCCGGTAGTGGCGGGTCAGCTCGTCCGAGCGCGCGAATCTCCAGCCGCAGCCTTCCCACGTGCAGGCGTATGGCTTCTCCCCTAGGGGACAAGGAAGCCATAAGCGCCACTGTCTGCCCAGTCATGTCCCCGGGTCCCCTGCATCTGGCCACACCCCTTTACTCAGCCTGGGCTGGGACTAGGATGAACAAAGTGAGGCCCCTAGGGCACAAAATTTAAGGAGGCACTCACTCTCAGAGGCCAGCCAAGTCCAAGTCCCGCCCTCTGCAACCCTTCTTCCCCTGTAACTACAGCGGGCGCCGCGCCCTTTCTCATGTCCGGGGCCCCGCCCCCTCACCTGTGTGCGTGCGCAGATGCGCCTTCAGGTGGGAGCTCTTGGTGTAGCTCTTGCCGCAACCCGGGTGCGCGCACGTGTGCGCTGCCTGCCTCTTGCGCGCCCACGAACGTCGGCCTCGCTTGGATGGCGCGGTCTCGGCTATCACACCTGGATCCTCTGCAGTCCCCCCGAGTCCAGTGCCCACCGTCCCGGGTCCCAAACAACTCAGGAAGGAGGGGGACGTGGCGGGACCGGGCGCGGGTCCCTGGAGCCCGCGGAAGAGCTGGAAGTGCCCTTGGTACTGAGGCGCCGGGTACATCGCGGGGTACCCGGACAGTAGCCCGTAGGGGGCGCCCGACGCCGCAGGCACTGAAAGCCCGGTCCGCGGGAAGTAGCCACCCGAGGAGCCGGCGCCGGGCCCCGGGTACACCGGTTGCAGCGCCAGCGCCTTGGGCTCGGGGGCCGGGGCTGGAGCCAGGGCTGGGCCCACGAAGGCGTCGGGAGCCCGGGCTCGCAGGGCAGGGCGCACCCAACCCGAGTGATCCTCCGAACCCAAAAGCCCAGCCACCAGCCCCGGGCCGCCAGCATATGCGCCCAGAGTCTCGGGCGGCGGCGGATATTGCGCCCCGGAGGCCTCGCTGGGCGCCAGAGCGCAGGTCTGGGGCGCGCCACCGGGCTCCGGGCCCGAGAAGTTGGTGAGGAGGAGATCCAGGTCCCAGGTGGCGTCCGCGCCCCTCTCATCGTCCTCTTCCTCCCCGGGCTGGTCCTCAGACTTCACGTGGAGGGGCGGCTCCGTGGGGTCAGGAGGACCCGGGCCCATGTCCTGCGCCTCTTCGGAGCGCCACCACTGCGGGAGGGAGCAGGCAGCTCGAGGTTCGGTGGACACTGGGGTGCCCTGCCCAGGGACATCGCGGGCTGGACACTCTGACGCAGAGGCTTTGGAAAGGGGTCTTGTTTGCCTGTCTGTCTGTCCCACTTCCCCAACACTGCCCCTCTAACCGCCCCTCTCCCCGCTCCCCCCCCAGCTCCAGGGACAGAAACCGATCAGGTCTGGCTGGAGACAGGAGATAAGACTTCCACTATCTGGAACCACACTCGGGGATGGGGGAAGGGGTAGCAGAGCTGCTGGAGATGGAAAACTGGCAGGGGACGGGGGAGAGGATGCCAGCCTTGACTTAGTTTTCCCCCAGAACATCCCTCTCCTTCCCTGTCTCCCAAAACAAGATTAATTCCGAAATTTTGGATGTCCCCCAGACACACTCATCATTTCCCGCTGATATCTGGAAGATTGTCTGTGAGCCTAGATCTCGTTCCTTTTTTTTTTTTTTTTTCTTGAGATAGGGTCTTACTCTTTTGCCCAGGCTGGAGTGCAGTGGTGCAGCTCACTGTATCCTTAATCTCCTGGGCTCTAATGATCCTCCTGCATCAGCCTACGGAGTACCTGGGACTACAGGCACACGCCCCCATGCCTGGCCTAATGTTTTTGGTATTTTTTGTAGAGATAGGGTTTCACCATGTTGCCCAGGCTACCTTCGTTTTCTATTACCGAAATAGATCACACTTAGAACCTCAAACCCCTAGACCACCCTCCTCACCCCCTGCCAGACTAAGCTGAGATCTCCTCTCCTGGACTGAGCGTACCTCAGTCCTGGTTAAGTCTCTTGATTTCAGGTCAAGATGCAGGTCTGGACCCCAAGATCTGTGACTGTGGCCCTGGATTCCAGCCAGCCCACCTAGACCCCACCTTCTAGGC 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ACGTTGTCTCACTCTGTCGCCCAGGCTGGAGTCCAGTGGTGTGATCTCAGCTCACTGCAACATCCGCCTCCTAGGTTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGCATGCGCCACATGCCCAGCTAATTTTTGTATTTTTGGTAGAGACTGGGTTTCACCATTTTTGGTAGAGATGGGGTTTCACCTTGGGGCTCAGGCTGGTGTCGAACTCCTGGGCTCAAGTGATCTGCCCGCCTCAGCCTGCCAAATTGCTGGGATTAAAGAGGGAGCCACCATGCCTGGCCCCAAGCTAATTTTGGGAGGAATTTAGTTTATAGCTTAAATGATAATAGCCCTTCCCCAAACTAAACTGCCTTTGTAGAAATAATGAAAGGGCACTAGGTTAGGAGGATGAGAGGAGCCTGAATTCTGCTAAACTGTAGGTGTAGTAGTTAAATTATGACCAGCCATTTTTCCGGCCGGGTGCGGTGCCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCTGGCAGATTACCTGAGGTCAGGATTTCGAAACCAGCCTGGCCAGCATTTCGAAACCCCATCTCTTCTAAAAATACAAAAATTAGCCCGGCATGGTGGCATGTGCCTGTAATCCTAGCTACCTGGTAGGCTGACACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGAACAACTGCACTCCAGCCTGGGCAAGAGCAAGACTCCATCTCAAAAACAAAAACAAAGATGGCCAGCCATTATTCTGGAGGTCACAAGGTTTGCAACTTCCCCAGTTATTTCTGCAAATAACATGACTATTGCAAAACCTAACGCTGGCCTTTTTAGATGTCTTTTTAGGCTTTTTGCATATCTGACAACTGGATGACTCCACCCAGACTAGCGACTCTATGGTCCCCACCCAGAAGCTGACTCAGCAACTGTTTTCCACAGCTCCAGGATTGCAGCAAGGCACCCATTCCCTAGCCCTCCTGCCCACCAAACTGTTCTTGAATAACCCTAGCCTCTGAATTTTCAGGGAGGCTGATTCAAGTAATAAAACTCCCATCTCCCATTTAGCTGGATGTATGTGGATTAAACTCTCTCTATTGCAATCCCTCTGTCTCGATAAATTGGCTCTATCTGGACAGTGGGCAAGATGAACCCCCTGGGCAGTCATAGGCTGTGAACTCTTAAATCCAGGGAGATGTTTGCTGTCAATGTCCGCAGGGTTCAAGGCAGAAGACAAGGACAGTGTAGCCTGAACTGGGTGGGAAAAGAGAGGACAGCAAGGCCTCCAGTGCCCAAGGGGGCTTGTTGGAGTTGAGGGGTGTCACTGTAGTTTAGGAGATGAGGGTGTGTAAGGCCCTCTAATATGACCTCTAGGTTTACAGCCTCCTGCCATCTTCCAGCCTCCAAAACCCAAAAATTCAGGCCAACGCTGAAGCTTTATCTGGGAGGGGCATTTTTATAGGACCCATAACCATTGACAGTTAATATCAGCCACAATAAGGGACCTTCAGGAGCCGCTTTCTAGACCCAGGGTCTCTGGGAAGCCTCATCCCACACCCTCTCCTGCTGTCCAGGGCCATCTGGGAGCTGGTCTGAGTGTCCACTGAGTCCGTTTATTTGGCGGTCTGTCTCACTGGGTTTGCACGACAGTTTGGACATCTCTGTGTGGCTCCCTGTGGCTGAAGGCTTGTCGGATTTTCCGTAAGAGGCTCCCCCAGGGCTGTCTATGGGTCCGTGTTTGATATTTGGGTGGATCTTTGGGAACGCGAGTCCAGGAGAGGGTCCATTCGTGGGAAAACCACCCAGCATTGTGTCACGCGCGTCCGTGTGAAGAGACCACCAAACAGGCTTCTTGTCCCATCCCCAGTCACTAGGAGAGTCCAAGTGCCAGGGCAGGGCTCAAAGGTGGCGCTTCATGTGCAAGGCCAGGTGGTCAGAGCGCGAAAAAGCACGTGGGCAGAGCTGGCAGCGGAAGGGGCGCTGCCCCGTGTGTTTCCGGTAGTGGCGGGTCAGCTTGTCCGAGCGCGCGAATCTCCAGCCGCAGCCTTCCCACGTGCAGGCGTATGGCTTCTCCCCTAGGGGACAAGGAAGCCATAAGCGCCACTGTCTGCCCAGTCATGTCCCCGGGTCCCCTGCATCTGGCCACACCCCTTTACTCAGCCTGGGCTGGGACTAGGATGAACAAAGTGAGGCCCCTAGGGCACAAAATTTAAGGAGGCACTCACTCTCAGAGGCCAGCCAAGTCCAAGTCCCGCCCTCTGCAACCCTTCTTCCCCTGTAACTACAGCGGGCGCCGCGCCCTTTCTCATGTCCGGGGCCCCGCCCCCTCACCTGTGTGCGTGCGCAGATGCGCCTTCAGGTGGGAGCTCTTGGTGTAGCTCTTGCCGCAACCCGGGTGCGCGCACGTGTGCGCTGCCTGCCTCTTGCGCGCCCACGAACGTCGGCCTCGCTTGGATGGCGCGGTCTCGGCTATCACACCTGGATCCTCTGCAGTCCCCCCGAGTCCAGTGCCCACCGTCCCGGGTCCCAAACAACTCAGGAAGGAGGGGGACGTGGCGGGACCGGGCGCGGGTCCCTGGAGCCCGCGGAAGAGCTGGAAGTGCCCTTGGTACTGAGGCGCCGGGTACATCGCGGGGTACCCGGACAGTAGCCCGTAGGGGGCGCCCGACGCCGCAGGCACTGAAAGCCCGGTCCGCGGGAAGTAGCCACCCGAGGAGCCGGCGCCGGGCCCCGGGTACACCGGTTGCAGCGCCAGCGCCTTGGGCTCGGGGGCCGGGGCTGGAGCCAGGGCTGGGCCCACGAAGGCGTCGGGAGCCCGGGCTCGCAGGGCAGGGCGCACCCAACCCGAGTGATCCTCCGAACCCAAAAGCCCAGCCACCAGCCCCGGGCCGCCAGCATATGCGCCCAGAGTCTCGGGCGGCGGCGGATATTGCGCCCCGGAGGCCTCGCTGGGCGCCAGAGCGCAGGTCTGGGGCGCGCCACCGGGCTCCGGGCCCGAGAAGTTGGTGAGGAGGAGATCCAGGTCCCAGGTGGCGTCCGCGCCCCTCTCATCGTCCTCTTCCTCCCCGGGCTGGTCCTCAGACTTCACGTGGAGGGGCGGCTCCGTGGGGTCAGGAGGACCCGGGCCCATGTCCTGCGCCTCTTCGGAGCGCCACCACTGCGGGAGGGAGCAGGCAGCTCGAGGTTCGGTGGACACTGGGGTGCCCTGCCCAGGGACATCGCGGGCTGGACACTCTGACGCAGAGGCTTTGGAAAGGGGTCTTGTTTGCCTGTCTGTCTGTCCCACTTCCCCAACACTGCCCCTCTAACCGCCCCTCTCCCCGCTCCCCCCCCAGCTCCAGGGACAGAAACCGATCAGGTCTGGCTGGAGACAGGAGATAAGACTTCCACTATCTGGAACCACACTCGGGGATGGGGGAAGGGGTAGCAGAGCTGCTGGAGATGGAAAACTGGCAGGGGACGGGGGAGAGGATGCCAGCCTTGACTTAGTTTTCCCCCAGAACATCCCTCTCCTTCCCTGTCTCCCAAAACAAGATTAATTCCGAAATTTTGGATGTCCCCCAGACACACTCATCATTTCCCGCTGATATCTGGAAGATTGTCTGTGAGCCTAGATCTCGTTCCTTTTTTTTTTTTTTTTTCTTGAGATAGGGTCTTACTCTTTTGCCCAGGCTGGAGTGCAGTGGTGCAGCTCACTGTATCCTTAATCTCCTGGGCTCTAATGATCCTCCTGCATCAGCCTACGGAGTACCTGGGACTACAGGCACACGCCCCCATGCCTGGCCTAATGTTTTTGGTATTTTTTGTAGAGATAGGGTTTCACCATGTTGCCCAGGCTACCTTCGTTTTCTATTACCGAAATAGATCACACTTAGAACCTCAAACCCCTAGACCACCCTCCTCACCCCCTGCCAGACTAAGCTGAGATCTCCTCTCCTGGACTGAGCGTACCTCAGTCCTGGTTAAGTCTCTTGATTTCAGGTCAAGATGCAGGTCTGGACCCCAAGATCTGTGACTGTGGCCCTGGATTCCAGCCAGCCCACCTAGACCCCACCTTCTAGGC 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Task1_train_26579 | A mutation in KLF1, LOC117125591 (KLF transcription factor 1| CRISPRi-FlowFISH-validated PRDX2 and RAD23A regulatory element), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; BLOOD GROUP--LUTHERAN INHIBITOR | AGCTTAAATGATAATAGCCCTTCCCCAAACTAAACTGCCTTTGTAGAAATAATGAAAGGGCACTAGGTTAGGAGGATGAGAGGAGCCTGAATTCTGCTAAACTGTAGGTGTAGTAGTTAAATTATGACCAGCCATTTTTCCGGCCGGGTGCGGTGCCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCTGGCAGATTACCTGAGGTCAGGATTTCGAAACCAGCCTGGCCAGCATTTCGAAACCCCATCTCTTCTAAAAATACAAAAATTAGCCCGGCATGGTGGCATGTGCCTGTAATCCTAGCTACCTGGTAGGCTGACACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGAACAACTGCACTCCAGCCTGGGCAAGAGCAAGACTCCATCTCAAAAACAAAAACAAAGATGGCCAGCCATTATTCTGGAGGTCACAAGGTTTGCAACTTCCCCAGTTATTTCTGCAAATAACATGACTATTGCAAAACCTAACGCTGGCCTTTTTAGATGTCTTTTTAGGCTTTTTGCATATCTGACAACTGGATGACTCCACCCAGACTAGCGACTCTATGGTCCCCACCCAGAAGCTGACTCAGCAACTGTTTTCCACAGCTCCAGGATTGCAGCAAGGCACCCATTCCCTAGCCCTCCTGCCCACCAAACTGTTCTTGAATAACCCTAGCCTCTGAATTTTCAGGGAGGCTGATTCAAGTAATAAAACTCCCATCTCCCATTTAGCTGGATGTATGTGGATTAAACTCTCTCTATTGCAATCCCTCTGTCTCGATAAATTGGCTCTATCTGGACAGTGGGCAAGATGAACCCCCTGGGCAGTCATAGGCTGTGAACTCTTAAATCCAGGGAGATGTTTGCTGTCAATGTCCGCAGGGTTCAAGGCAGAAGACAAGGACAGTGTAGCCTGAACTGGGTGGGAAAAGAGAGGACAGCAAGGCCTCCAGTGCCCAAGGGGGCTTGTTGGAGTTGAGGGGTGTCACTGTAGTTTAGGAGATGAGGGTGTGTAAGGCCCTCTAATATGACCTCTAGGTTTACAGCCTCCTGCCATCTTCCAGCCTCCAAAACCCAAAAATTCAGGCCAACGCTGAAGCTTTATCTGGGAGGGGCATTTTTATAGGACCCATAACCATTGACAGTTAATATCAGCCACAATAAGGGACCTTCAGGAGCCGCTTTCTAGACCCAGGGTCTCTGGGAAGCCTCATCCCACACCCTCTCCTGCTGTCCAGGGCCATCTGGGAGCTGGTCTGAGTGTCCACTGAGTCCGTTTATTTGGCGGTCTGTCTCACTGGGTTTGCACGACAGTTTGGACATCTCTGTGTGGCTCCCTGTGGCTGAAGGCTTGTCGGATTTTCCGTAAGAGGCTCCCCCAGGGCTGTCTATGGGTCCGTGTTTGATATTTGGGTGGATCTTTGGGAACGCGAGTCCAGGAGAGGGTCCATTCGTGGGAAAACCACCCAGCATTGTGTCACGCGCGTCCGTGTGAAGAGACCACCAAACAGGCTTCTTGTCCCATCCCCAGTCACTAGGAGAGTCCAAGTGCCAGGGCAGGGCTCAAAGGTGGCGCTTCATGTGCAAGGCCAGGTGGTCAGAGCGCGAAAAAGCACGTGGGCAGAGCTGGCAGCGGAAGGGGCGCTGCCCCGTGTGTTTCCGGTAGTGGCGGGTCAGCTCGTCCGAGCGCGCGAATCTCCAGCCGCAGCCTTCCCACGTGCAGGCGTATGGCTTCTCCCCTAGGGGACAAGGAAGCCATAAGCGCCACTGTCTGCCCAGTCATGTCCCCGGGTCCCCTGCATCTGGCCACACCCCTTTACTCAGCCTGGGCTGGGACTAGGATGAACAAAGTGAGGCCCCTAGGGCACAAAATTTAAGGAGGCACTCACTCTCAGAGGCCAGCCAAGTCCAAGTCCCGCCCTCTGCAACCCTTCTTCCCCTGTAACTACAGCGGGCGCCGCGCCCTTTCTCATGTCCGGGGCCCCGCCCCCTCACCTGTGTGCGTGCGCAGATGCGCCTTCAGGTGGGAGCTCTTGGTGTAGCTCTTGCCGCAACCCGGGTGCGCGCACGTGTGCGCTGCCTGCCTCTTGCGCGCCCACGAACGTCGGCCTCGCTTGGATGGCGCGGTCTCGGCTATCACACCTGGATCCTCTGCAGTCCCCCCGAGTCCAGTGCCCACCGTCCCGGGTCCCAAACAACTCAGGAAGGAGGGGGACGTGGCGGGACCGGGCGCGGGTCCCTGGAGCCCGCGGAAGAGCTGGAAGTGCCCTTGGTACTGAGGCGCCGGGTACATCGCGGGGTACCCGGACAGTAGCCCGTAGGGGGCGCCCGACGCCGCAGGCACTGAAAGCCCGGTCCGCGGGAAGTAGCCACCCGAGGAGCCGGCGCCGGGCCCCGGGTACACCGGTTGCAGCGCCAGCGCCTTGGGCTCGGGGGCCGGGGCTGGAGCCAGGGCTGGGCCCACGAAGGCGTCGGGAGCCCGGGCTCGCAGGGCAGGGCGCACCCAACCCGAGTGATCCTCCGAACCCAAAAGCCCAGCCACCAGCCCCGGGCCGCCAGCATATGCGCCCAGAGTCTCGGGCGGCGGCGGATATTGCGCCCCGGAGGCCTCGCTGGGCGCCAGAGCGCAGGTCTGGGGCGCGCCACCGGGCTCCGGGCCCGAGAAGTTGGTGAGGAGGAGATCCAGGTCCCAGGTGGCGTCCGCGCCCCTCTCATCGTCCTCTTCCTCCCCGGGCTGGTCCTCAGACTTCACGTGGAGGGGCGGCTCCGTGGGGTCAGGAGGACCCGGGCCCATGTCCTGCGCCTCTTCGGAGCGCCACCACTGCGGGAGGGAGCAGGCAGCTCGAGGTTCGGTGGACACTGGGGTGCCCTGCCCAGGGACATCGCGGGCTGGACACTCTGACGCAGAGGCTTTGGAAAGGGGTCTTGTTTGCCTGTCTGTCTGTCCCACTTCCCCAACACTGCCCCTCTAACCGCCCCTCTCCCCGCTCCCCCCCCAGCTCCAGGGACAGAAACCGATCAGGTCTGGCTGGAGACAGGAGATAAGACTTCCACTATCTGGAACCACACTCGGGGATGGGGGAAGGGGTAGCAGAGCTGCTGGAGATGGAAAACTGGCAGGGGACGGGGGAGAGGATGCCAGCCTTGACTTAGTTTTCCCCCAGAACATCCCTCTCCTTCCCTGTCTCCCAAAACAAGATTAATTCCGAAATTTTGGATGTCCCCCAGACACACTCATCATTTCCCGCTGATATCTGGAAGATTGTCTGTGAGCCTAGATCTCGTTCCTTTTTTTTTTTTTTTTTCTTGAGATAGGGTCTTACTCTTTTGCCCAGGCTGGAGTGCAGTGGTGCAGCTCACTGTATCCTTAATCTCCTGGGCTCTAATGATCCTCCTGCATCAGCCTACGGAGTACCTGGGACTACAGGCACACGCCCCCATGCCTGGCCTAATGTTTTTGGTATTTTTTGTAGAGATAGGGTTTCACCATGTTGCCCAGGCTACCTTCGTTTTCTATTACCGAAATAGATCACACTTAGAACCTCAAACCCCTAGACCACCCTCCTCACCCCCTGCCAGACTAAGCTGAGATCTCCTCTCCTGGACTGAGCGTACCTCAGTCCTGGTTAAGTCTCTTGATTTCAGGTCAAGATGCAGGTCTGGACCCCAAGATCTGTGACTGTGGCCCTGGATTCCAGCCAGCCCACCTAGACCCCACCTTCTAGGCCCCACCTTGAGGAAGTCATCCTGTGTGTCCGGGAAGGGGCCCAGGGCGGTCAGTGTGCTGATGGAGGGCAAGGCGGTCTCGGCTGTGGCCATGGCTGGCTGGTGCCCACCCTGGGCCTCAAGCCTCCTCTTCCTCGGCTGCCTCGTGAACTCTGAGGCTGTGATAGCCCCTTCGAGGGCTCCTCTCTGTCCTTAGCTGATTGGCTGCAGCCTCTGATAAGGCAAAGCAAGGCAAGGCGGCGGGGGGGCACTGTTTCTGGGGCACAAACTTCACGTTGGCCTGTCTGGGGCTGGGGTTAAAGACTAACCCTGTGTCCAAAGCCAAGTCAAATATC 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AGCTTAAATGATAATAGCCCTTCCCCAAACTAAACTGCCTTTGTAGAAATAATGAAAGGGCACTAGGTTAGGAGGATGAGAGGAGCCTGAATTCTGCTAAACTGTAGGTGTAGTAGTTAAATTATGACCAGCCATTTTTCCGGCCGGGTGCGGTGCCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCTGGCAGATTACCTGAGGTCAGGATTTCGAAACCAGCCTGGCCAGCATTTCGAAACCCCATCTCTTCTAAAAATACAAAAATTAGCCCGGCATGGTGGCATGTGCCTGTAATCCTAGCTACCTGGTAGGCTGACACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGAACAACTGCACTCCAGCCTGGGCAAGAGCAAGACTCCATCTCAAAAACAAAAACAAAGATGGCCAGCCATTATTCTGGAGGTCACAAGGTTTGCAACTTCCCCAGTTATTTCTGCAAATAACATGACTATTGCAAAACCTAACGCTGGCCTTTTTAGATGTCTTTTTAGGCTTTTTGCATATCTGACAACTGGATGACTCCACCCAGACTAGCGACTCTATGGTCCCCACCCAGAAGCTGACTCAGCAACTGTTTTCCACAGCTCCAGGATTGCAGCAAGGCACCCATTCCCTAGCCCTCCTGCCCACCAAACTGTTCTTGAATAACCCTAGCCTCTGAATTTTCAGGGAGGCTGATTCAAGTAATAAAACTCCCATCTCCCATTTAGCTGGATGTATGTGGATTAAACTCTCTCTATTGCAATCCCTCTGTCTCGATAAATTGGCTCTATCTGGACAGTGGGCAAGATGAACCCCCTGGGCAGTCATAGGCTGTGAACTCTTAAATCCAGGGAGATGTTTGCTGTCAATGTCCGCAGGGTTCAAGGCAGAAGACAAGGACAGTGTAGCCTGAACTGGGTGGGAAAAGAGAGGACAGCAAGGCCTCCAGTGCCCAAGGGGGCTTGTTGGAGTTGAGGGGTGTCACTGTAGTTTAGGAGATGAGGGTGTGTAAGGCCCTCTAATATGACCTCTAGGTTTACAGCCTCCTGCCATCTTCCAGCCTCCAAAACCCAAAAATTCAGGCCAACGCTGAAGCTTTATCTGGGAGGGGCATTTTTATAGGACCCATAACCATTGACAGTTAATATCAGCCACAATAAGGGACCTTCAGGAGCCGCTTTCTAGACCCAGGGTCTCTGGGAAGCCTCATCCCACACCCTCTCCTGCTGTCCAGGGCCATCTGGGAGCTGGTCTGAGTGTCCACTGAGTCCGTTTATTTGGCGGTCTGTCTCACTGGGTTTGCACGACAGTTTGGACATCTCTGTGTGGCTCCCTGTGGCTGAAGGCTTGTCGGATTTTCCGTAAGAGGCTCCCCCAGGGCTGTCTATGGGTCCGTGTTTGATATTTGGGTGGATCTTTGGGAACGCGAGTCCAGGAGAGGGTCCATTCGTGGGAAAACCACCCAGCATTGTGTCACGCGCGTCCGTGTGAAGAGACCACCAAACAGGCTTCTTGTCCCATCCCCAGTCACTAGGAGAGTCCAAGTGCCAGGGCAGGGCTCAAAGGTGGCGCTTCATGTGCAAGGCCAGGTGGTCAGAGCGCGAAAAAGCACGTGGGCAGAGCTGGCAGCGGAAGGGGCGCTGCCCCGTGTGTTTCCGGTAGTGGCGGGTCAGCTCGTCCGAGCGCGCGAATCTCCAGCCGCAGCCTTCCCACGTGCAGGCGTATGGCTTCTCCCCTAGGGGACAAGGAAGCCATAAGCGCCACTGTCTGCCCAGTCATGTCCCCGGGTCCCCTGCATCTGGCCACACCCCTTTACTCAGCCTGGGCTGGGACTAGGATGAACAAAGTGAGGCCCCTAGGGCACAAAATTTAAGGAGGCACTCACTCTCAGAGGCCAGCCAAGTCCAAGTCCCGCCCTCTGCAACCCTTCTTCCCCTGTAACTACAGCGGGCGCCGCGCCCTTTCTCATGTCCGGGGCCCCGCCCCCTCACCTGTGTGCGTGCGCAGATACGCCTTCAGGTGGGAGCTCTTGGTGTAGCTCTTGCCGCAACCCGGGTGCGCGCACGTGTGCGCTGCCTGCCTCTTGCGCGCCCACGAACGTCGGCCTCGCTTGGATGGCGCGGTCTCGGCTATCACACCTGGATCCTCTGCAGTCCCCCCGAGTCCAGTGCCCACCGTCCCGGGTCCCAAACAACTCAGGAAGGAGGGGGACGTGGCGGGACCGGGCGCGGGTCCCTGGAGCCCGCGGAAGAGCTGGAAGTGCCCTTGGTACTGAGGCGCCGGGTACATCGCGGGGTACCCGGACAGTAGCCCGTAGGGGGCGCCCGACGCCGCAGGCACTGAAAGCCCGGTCCGCGGGAAGTAGCCACCCGAGGAGCCGGCGCCGGGCCCCGGGTACACCGGTTGCAGCGCCAGCGCCTTGGGCTCGGGGGCCGGGGCTGGAGCCAGGGCTGGGCCCACGAAGGCGTCGGGAGCCCGGGCTCGCAGGGCAGGGCGCACCCAACCCGAGTGATCCTCCGAACCCAAAAGCCCAGCCACCAGCCCCGGGCCGCCAGCATATGCGCCCAGAGTCTCGGGCGGCGGCGGATATTGCGCCCCGGAGGCCTCGCTGGGCGCCAGAGCGCAGGTCTGGGGCGCGCCACCGGGCTCCGGGCCCGAGAAGTTGGTGAGGAGGAGATCCAGGTCCCAGGTGGCGTCCGCGCCCCTCTCATCGTCCTCTTCCTCCCCGGGCTGGTCCTCAGACTTCACGTGGAGGGGCGGCTCCGTGGGGTCAGGAGGACCCGGGCCCATGTCCTGCGCCTCTTCGGAGCGCCACCACTGCGGGAGGGAGCAGGCAGCTCGAGGTTCGGTGGACACTGGGGTGCCCTGCCCAGGGACATCGCGGGCTGGACACTCTGACGCAGAGGCTTTGGAAAGGGGTCTTGTTTGCCTGTCTGTCTGTCCCACTTCCCCAACACTGCCCCTCTAACCGCCCCTCTCCCCGCTCCCCCCCCAGCTCCAGGGACAGAAACCGATCAGGTCTGGCTGGAGACAGGAGATAAGACTTCCACTATCTGGAACCACACTCGGGGATGGGGGAAGGGGTAGCAGAGCTGCTGGAGATGGAAAACTGGCAGGGGACGGGGGAGAGGATGCCAGCCTTGACTTAGTTTTCCCCCAGAACATCCCTCTCCTTCCCTGTCTCCCAAAACAAGATTAATTCCGAAATTTTGGATGTCCCCCAGACACACTCATCATTTCCCGCTGATATCTGGAAGATTGTCTGTGAGCCTAGATCTCGTTCCTTTTTTTTTTTTTTTTTCTTGAGATAGGGTCTTACTCTTTTGCCCAGGCTGGAGTGCAGTGGTGCAGCTCACTGTATCCTTAATCTCCTGGGCTCTAATGATCCTCCTGCATCAGCCTACGGAGTACCTGGGACTACAGGCACACGCCCCCATGCCTGGCCTAATGTTTTTGGTATTTTTTGTAGAGATAGGGTTTCACCATGTTGCCCAGGCTACCTTCGTTTTCTATTACCGAAATAGATCACACTTAGAACCTCAAACCCCTAGACCACCCTCCTCACCCCCTGCCAGACTAAGCTGAGATCTCCTCTCCTGGACTGAGCGTACCTCAGTCCTGGTTAAGTCTCTTGATTTCAGGTCAAGATGCAGGTCTGGACCCCAAGATCTGTGACTGTGGCCCTGGATTCCAGCCAGCCCACCTAGACCCCACCTTCTAGGCCCCACCTTGAGGAAGTCATCCTGTGTGTCCGGGAAGGGGCCCAGGGCGGTCAGTGTGCTGATGGAGGGCAAGGCGGTCTCGGCTGTGGCCATGGCTGGCTGGTGCCCACCCTGGGCCTCAAGCCTCCTCTTCCTCGGCTGCCTCGTGAACTCTGAGGCTGTGATAGCCCCTTCGAGGGCTCCTCTCTGTCCTTAGCTGATTGGCTGCAGCCTCTGATAAGGCAAAGCAAGGCAAGGCGGCGGGGGGGCACTGTTTCTGGGGCACAAACTTCACGTTGGCCTGTCTGGGGCTGGGGTTAAAGACTAACCCTGTGTCCAAAGCCAAGTCAAATATC 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Task1_train_26580 | This alteration in LOC117125591, KLF1 (CRISPRi-FlowFISH-validated PRDX2 and RAD23A regulatory element| KLF transcription factor 1) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | TTAAATGATAATAGCCCTTCCCCAAACTAAACTGCCTTTGTAGAAATAATGAAAGGGCACTAGGTTAGGAGGATGAGAGGAGCCTGAATTCTGCTAAACTGTAGGTGTAGTAGTTAAATTATGACCAGCCATTTTTCCGGCCGGGTGCGGTGCCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCTGGCAGATTACCTGAGGTCAGGATTTCGAAACCAGCCTGGCCAGCATTTCGAAACCCCATCTCTTCTAAAAATACAAAAATTAGCCCGGCATGGTGGCATGTGCCTGTAATCCTAGCTACCTGGTAGGCTGACACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGAACAACTGCACTCCAGCCTGGGCAAGAGCAAGACTCCATCTCAAAAACAAAAACAAAGATGGCCAGCCATTATTCTGGAGGTCACAAGGTTTGCAACTTCCCCAGTTATTTCTGCAAATAACATGACTATTGCAAAACCTAACGCTGGCCTTTTTAGATGTCTTTTTAGGCTTTTTGCATATCTGACAACTGGATGACTCCACCCAGACTAGCGACTCTATGGTCCCCACCCAGAAGCTGACTCAGCAACTGTTTTCCACAGCTCCAGGATTGCAGCAAGGCACCCATTCCCTAGCCCTCCTGCCCACCAAACTGTTCTTGAATAACCCTAGCCTCTGAATTTTCAGGGAGGCTGATTCAAGTAATAAAACTCCCATCTCCCATTTAGCTGGATGTATGTGGATTAAACTCTCTCTATTGCAATCCCTCTGTCTCGATAAATTGGCTCTATCTGGACAGTGGGCAAGATGAACCCCCTGGGCAGTCATAGGCTGTGAACTCTTAAATCCAGGGAGATGTTTGCTGTCAATGTCCGCAGGGTTCAAGGCAGAAGACAAGGACAGTGTAGCCTGAACTGGGTGGGAAAAGAGAGGACAGCAAGGCCTCCAGTGCCCAAGGGGGCTTGTTGGAGTTGAGGGGTGTCACTGTAGTTTAGGAGATGAGGGTGTGTAAGGCCCTCTAATATGACCTCTAGGTTTACAGCCTCCTGCCATCTTCCAGCCTCCAAAACCCAAAAATTCAGGCCAACGCTGAAGCTTTATCTGGGAGGGGCATTTTTATAGGACCCATAACCATTGACAGTTAATATCAGCCACAATAAGGGACCTTCAGGAGCCGCTTTCTAGACCCAGGGTCTCTGGGAAGCCTCATCCCACACCCTCTCCTGCTGTCCAGGGCCATCTGGGAGCTGGTCTGAGTGTCCACTGAGTCCGTTTATTTGGCGGTCTGTCTCACTGGGTTTGCACGACAGTTTGGACATCTCTGTGTGGCTCCCTGTGGCTGAAGGCTTGTCGGATTTTCCGTAAGAGGCTCCCCCAGGGCTGTCTATGGGTCCGTGTTTGATATTTGGGTGGATCTTTGGGAACGCGAGTCCAGGAGAGGGTCCATTCGTGGGAAAACCACCCAGCATTGTGTCACGCGCGTCCGTGTGAAGAGACCACCAAACAGGCTTCTTGTCCCATCCCCAGTCACTAGGAGAGTCCAAGTGCCAGGGCAGGGCTCAAAGGTGGCGCTTCATGTGCAAGGCCAGGTGGTCAGAGCGCGAAAAAGCACGTGGGCAGAGCTGGCAGCGGAAGGGGCGCTGCCCCGTGTGTTTCCGGTAGTGGCGGGTCAGCTCGTCCGAGCGCGCGAATCTCCAGCCGCAGCCTTCCCACGTGCAGGCGTATGGCTTCTCCCCTAGGGGACAAGGAAGCCATAAGCGCCACTGTCTGCCCAGTCATGTCCCCGGGTCCCCTGCATCTGGCCACACCCCTTTACTCAGCCTGGGCTGGGACTAGGATGAACAAAGTGAGGCCCCTAGGGCACAAAATTTAAGGAGGCACTCACTCTCAGAGGCCAGCCAAGTCCAAGTCCCGCCCTCTGCAACCCTTCTTCCCCTGTAACTACAGCGGGCGCCGCGCCCTTTCTCATGTCCGGGGCCCCGCCCCCTCACCTGTGTGCGTGCGCAGATGCGCCTTCAGGTGGGAGCTCTTGGTGTAGCTCTTGCCGCAACCCGGGTGCGCGCACGTGTGCGCTGCCTGCCTCTTGCGCGCCCACGAACGTCGGCCTCGCTTGGATGGCGCGGTCTCGGCTATCACACCTGGATCCTCTGCAGTCCCCCCGAGTCCAGTGCCCACCGTCCCGGGTCCCAAACAACTCAGGAAGGAGGGGGACGTGGCGGGACCGGGCGCGGGTCCCTGGAGCCCGCGGAAGAGCTGGAAGTGCCCTTGGTACTGAGGCGCCGGGTACATCGCGGGGTACCCGGACAGTAGCCCGTAGGGGGCGCCCGACGCCGCAGGCACTGAAAGCCCGGTCCGCGGGAAGTAGCCACCCGAGGAGCCGGCGCCGGGCCCCGGGTACACCGGTTGCAGCGCCAGCGCCTTGGGCTCGGGGGCCGGGGCTGGAGCCAGGGCTGGGCCCACGAAGGCGTCGGGAGCCCGGGCTCGCAGGGCAGGGCGCACCCAACCCGAGTGATCCTCCGAACCCAAAAGCCCAGCCACCAGCCCCGGGCCGCCAGCATATGCGCCCAGAGTCTCGGGCGGCGGCGGATATTGCGCCCCGGAGGCCTCGCTGGGCGCCAGAGCGCAGGTCTGGGGCGCGCCACCGGGCTCCGGGCCCGAGAAGTTGGTGAGGAGGAGATCCAGGTCCCAGGTGGCGTCCGCGCCCCTCTCATCGTCCTCTTCCTCCCCGGGCTGGTCCTCAGACTTCACGTGGAGGGGCGGCTCCGTGGGGTCAGGAGGACCCGGGCCCATGTCCTGCGCCTCTTCGGAGCGCCACCACTGCGGGAGGGAGCAGGCAGCTCGAGGTTCGGTGGACACTGGGGTGCCCTGCCCAGGGACATCGCGGGCTGGACACTCTGACGCAGAGGCTTTGGAAAGGGGTCTTGTTTGCCTGTCTGTCTGTCCCACTTCCCCAACACTGCCCCTCTAACCGCCCCTCTCCCCGCTCCCCCCCCAGCTCCAGGGACAGAAACCGATCAGGTCTGGCTGGAGACAGGAGATAAGACTTCCACTATCTGGAACCACACTCGGGGATGGGGGAAGGGGTAGCAGAGCTGCTGGAGATGGAAAACTGGCAGGGGACGGGGGAGAGGATGCCAGCCTTGACTTAGTTTTCCCCCAGAACATCCCTCTCCTTCCCTGTCTCCCAAAACAAGATTAATTCCGAAATTTTGGATGTCCCCCAGACACACTCATCATTTCCCGCTGATATCTGGAAGATTGTCTGTGAGCCTAGATCTCGTTCCTTTTTTTTTTTTTTTTTCTTGAGATAGGGTCTTACTCTTTTGCCCAGGCTGGAGTGCAGTGGTGCAGCTCACTGTATCCTTAATCTCCTGGGCTCTAATGATCCTCCTGCATCAGCCTACGGAGTACCTGGGACTACAGGCACACGCCCCCATGCCTGGCCTAATGTTTTTGGTATTTTTTGTAGAGATAGGGTTTCACCATGTTGCCCAGGCTACCTTCGTTTTCTATTACCGAAATAGATCACACTTAGAACCTCAAACCCCTAGACCACCCTCCTCACCCCCTGCCAGACTAAGCTGAGATCTCCTCTCCTGGACTGAGCGTACCTCAGTCCTGGTTAAGTCTCTTGATTTCAGGTCAAGATGCAGGTCTGGACCCCAAGATCTGTGACTGTGGCCCTGGATTCCAGCCAGCCCACCTAGACCCCACCTTCTAGGCCCCACCTTGAGGAAGTCATCCTGTGTGTCCGGGAAGGGGCCCAGGGCGGTCAGTGTGCTGATGGAGGGCAAGGCGGTCTCGGCTGTGGCCATGGCTGGCTGGTGCCCACCCTGGGCCTCAAGCCTCCTCTTCCTCGGCTGCCTCGTGAACTCTGAGGCTGTGATAGCCCCTTCGAGGGCTCCTCTCTGTCCTTAGCTGATTGGCTGCAGCCTCTGATAAGGCAAAGCAAGGCAAGGCGGCGGGGGGGCACTGTTTCTGGGGCACAAACTTCACGTTGGCCTGTCTGGGGCTGGGGTTAAAGACTAACCCTGTGTCCAAAGCCAAGTCAAATATCAAG | TTAAATGATAATAGCCCTTCCCCAAACTAAACTGCCTTTGTAGAAATAATGAAAGGGCACTAGGTTAGGAGGATGAGAGGAGCCTGAATTCTGCTAAACTGTAGGTGTAGTAGTTAAATTATGACCAGCCATTTTTCCGGCCGGGTGCGGTGCCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCTGGCAGATTACCTGAGGTCAGGATTTCGAAACCAGCCTGGCCAGCATTTCGAAACCCCATCTCTTCTAAAAATACAAAAATTAGCCCGGCATGGTGGCATGTGCCTGTAATCCTAGCTACCTGGTAGGCTGACACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGAACAACTGCACTCCAGCCTGGGCAAGAGCAAGACTCCATCTCAAAAACAAAAACAAAGATGGCCAGCCATTATTCTGGAGGTCACAAGGTTTGCAACTTCCCCAGTTATTTCTGCAAATAACATGACTATTGCAAAACCTAACGCTGGCCTTTTTAGATGTCTTTTTAGGCTTTTTGCATATCTGACAACTGGATGACTCCACCCAGACTAGCGACTCTATGGTCCCCACCCAGAAGCTGACTCAGCAACTGTTTTCCACAGCTCCAGGATTGCAGCAAGGCACCCATTCCCTAGCCCTCCTGCCCACCAAACTGTTCTTGAATAACCCTAGCCTCTGAATTTTCAGGGAGGCTGATTCAAGTAATAAAACTCCCATCTCCCATTTAGCTGGATGTATGTGGATTAAACTCTCTCTATTGCAATCCCTCTGTCTCGATAAATTGGCTCTATCTGGACAGTGGGCAAGATGAACCCCCTGGGCAGTCATAGGCTGTGAACTCTTAAATCCAGGGAGATGTTTGCTGTCAATGTCCGCAGGGTTCAAGGCAGAAGACAAGGACAGTGTAGCCTGAACTGGGTGGGAAAAGAGAGGACAGCAAGGCCTCCAGTGCCCAAGGGGGCTTGTTGGAGTTGAGGGGTGTCACTGTAGTTTAGGAGATGAGGGTGTGTAAGGCCCTCTAATATGACCTCTAGGTTTACAGCCTCCTGCCATCTTCCAGCCTCCAAAACCCAAAAATTCAGGCCAACGCTGAAGCTTTATCTGGGAGGGGCATTTTTATAGGACCCATAACCATTGACAGTTAATATCAGCCACAATAAGGGACCTTCAGGAGCCGCTTTCTAGACCCAGGGTCTCTGGGAAGCCTCATCCCACACCCTCTCCTGCTGTCCAGGGCCATCTGGGAGCTGGTCTGAGTGTCCACTGAGTCCGTTTATTTGGCGGTCTGTCTCACTGGGTTTGCACGACAGTTTGGACATCTCTGTGTGGCTCCCTGTGGCTGAAGGCTTGTCGGATTTTCCGTAAGAGGCTCCCCCAGGGCTGTCTATGGGTCCGTGTTTGATATTTGGGTGGATCTTTGGGAACGCGAGTCCAGGAGAGGGTCCATTCGTGGGAAAACCACCCAGCATTGTGTCACGCGCGTCCGTGTGAAGAGACCACCAAACAGGCTTCTTGTCCCATCCCCAGTCACTAGGAGAGTCCAAGTGCCAGGGCAGGGCTCAAAGGTGGCGCTTCATGTGCAAGGCCAGGTGGTCAGAGCGCGAAAAAGCACGTGGGCAGAGCTGGCAGCGGAAGGGGCGCTGCCCCGTGTGTTTCCGGTAGTGGCGGGTCAGCTCGTCCGAGCGCGCGAATCTCCAGCCGCAGCCTTCCCACGTGCAGGCGTATGGCTTCTCCCCTAGGGGACAAGGAAGCCATAAGCGCCACTGTCTGCCCAGTCATGTCCCCGGGTCCCCTGCATCTGGCCACACCCCTTTACTCAGCCTGGGCTGGGACTAGGATGAACAAAGTGAGGCCCCTAGGGCACAAAATTTAAGGAGGCACTCACTCTCAGAGGCCAGCCAAGTCCAAGTCCCGCCCTCTGCAACCCTTCTTCCCCTGTAACTACAGCGGGCGCCGCGCCCTTTCTCATGTCCGGGGCCCCGCCCCCTCACCTGTGTGCGTGCGCAGATGCGGCTTCAGGTGGGAGCTCTTGGTGTAGCTCTTGCCGCAACCCGGGTGCGCGCACGTGTGCGCTGCCTGCCTCTTGCGCGCCCACGAACGTCGGCCTCGCTTGGATGGCGCGGTCTCGGCTATCACACCTGGATCCTCTGCAGTCCCCCCGAGTCCAGTGCCCACCGTCCCGGGTCCCAAACAACTCAGGAAGGAGGGGGACGTGGCGGGACCGGGCGCGGGTCCCTGGAGCCCGCGGAAGAGCTGGAAGTGCCCTTGGTACTGAGGCGCCGGGTACATCGCGGGGTACCCGGACAGTAGCCCGTAGGGGGCGCCCGACGCCGCAGGCACTGAAAGCCCGGTCCGCGGGAAGTAGCCACCCGAGGAGCCGGCGCCGGGCCCCGGGTACACCGGTTGCAGCGCCAGCGCCTTGGGCTCGGGGGCCGGGGCTGGAGCCAGGGCTGGGCCCACGAAGGCGTCGGGAGCCCGGGCTCGCAGGGCAGGGCGCACCCAACCCGAGTGATCCTCCGAACCCAAAAGCCCAGCCACCAGCCCCGGGCCGCCAGCATATGCGCCCAGAGTCTCGGGCGGCGGCGGATATTGCGCCCCGGAGGCCTCGCTGGGCGCCAGAGCGCAGGTCTGGGGCGCGCCACCGGGCTCCGGGCCCGAGAAGTTGGTGAGGAGGAGATCCAGGTCCCAGGTGGCGTCCGCGCCCCTCTCATCGTCCTCTTCCTCCCCGGGCTGGTCCTCAGACTTCACGTGGAGGGGCGGCTCCGTGGGGTCAGGAGGACCCGGGCCCATGTCCTGCGCCTCTTCGGAGCGCCACCACTGCGGGAGGGAGCAGGCAGCTCGAGGTTCGGTGGACACTGGGGTGCCCTGCCCAGGGACATCGCGGGCTGGACACTCTGACGCAGAGGCTTTGGAAAGGGGTCTTGTTTGCCTGTCTGTCTGTCCCACTTCCCCAACACTGCCCCTCTAACCGCCCCTCTCCCCGCTCCCCCCCCAGCTCCAGGGACAGAAACCGATCAGGTCTGGCTGGAGACAGGAGATAAGACTTCCACTATCTGGAACCACACTCGGGGATGGGGGAAGGGGTAGCAGAGCTGCTGGAGATGGAAAACTGGCAGGGGACGGGGGAGAGGATGCCAGCCTTGACTTAGTTTTCCCCCAGAACATCCCTCTCCTTCCCTGTCTCCCAAAACAAGATTAATTCCGAAATTTTGGATGTCCCCCAGACACACTCATCATTTCCCGCTGATATCTGGAAGATTGTCTGTGAGCCTAGATCTCGTTCCTTTTTTTTTTTTTTTTTCTTGAGATAGGGTCTTACTCTTTTGCCCAGGCTGGAGTGCAGTGGTGCAGCTCACTGTATCCTTAATCTCCTGGGCTCTAATGATCCTCCTGCATCAGCCTACGGAGTACCTGGGACTACAGGCACACGCCCCCATGCCTGGCCTAATGTTTTTGGTATTTTTTGTAGAGATAGGGTTTCACCATGTTGCCCAGGCTACCTTCGTTTTCTATTACCGAAATAGATCACACTTAGAACCTCAAACCCCTAGACCACCCTCCTCACCCCCTGCCAGACTAAGCTGAGATCTCCTCTCCTGGACTGAGCGTACCTCAGTCCTGGTTAAGTCTCTTGATTTCAGGTCAAGATGCAGGTCTGGACCCCAAGATCTGTGACTGTGGCCCTGGATTCCAGCCAGCCCACCTAGACCCCACCTTCTAGGCCCCACCTTGAGGAAGTCATCCTGTGTGTCCGGGAAGGGGCCCAGGGCGGTCAGTGTGCTGATGGAGGGCAAGGCGGTCTCGGCTGTGGCCATGGCTGGCTGGTGCCCACCCTGGGCCTCAAGCCTCCTCTTCCTCGGCTGCCTCGTGAACTCTGAGGCTGTGATAGCCCCTTCGAGGGCTCCTCTCTGTCCTTAGCTGATTGGCTGCAGCCTCTGATAAGGCAAAGCAAGGCAAGGCGGCGGGGGGGCACTGTTTCTGGGGCACAAACTTCACGTTGGCCTGTCTGGGGCTGGGGTTAAAGACTAACCCTGTGTCCAAAGCCAAGTCAAATATCAAG 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Task1_train_26581 | This variant affects gene GCDH, LOC117125594 (glutaryl-CoA dehydrogenase| H3K27ac-H3K4me1 hESC enhancers GRCh37_chr19:13001481-13002118 and GRCh37_chr19:13002119-13002756) located on Chromosome 19. Evaluate its biological effect and specify any disease association. | Pathogenic; Glutaric aciduria, type 1 | CCTCAGGTGACCCACCCTCCTTGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCGCCCCAGCCAGTCAAAACCTACACTTTATACAGTCACACCACCGGTCACTTTTACAATATGTAAAGTAATTATTTAGTCACAGTTGCATAGCTACCAGTGCCCAACCGTAGGGGATGCACCCAGTTAAACACAGACAAACGCAAGGACATGGCATCACAGGTCCTGAGAATCAAGACACACACATTTCTCAACAGATACACAATCAGAATGGGTGCACCACAAATGCACTACACAAAAAGACAAAACAGGCGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGGTGAAACCCGTCTCTATTAAATATAAGAAAAAAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGTAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCTACTGCACTCCAGCCTGGGCAACAGAGTGAGAATCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGCATGATGGCATGCTTCAGTGGTCCCAGCTACTTGGAGGCTGAGGTGGGAGGATCGCCCAGGAGGTGGAAGCTGCAGTGAGCTATGATCGCGCCACTGCACTCCAGCCTGAGCGACAGAACGAGACCCTGTCTAAAAAGAAAAAACAAAAACAAAACAAAACAACCACATAGACTCACAGAATCACACAAGTTCACACACACACACACATACACAGACACAGACACACACACACACACACACACACACACACAGAGTCACAAGTATCTACATGTGCTTCCTGGGACAGACTGGCAGAAAGGTTTGCTAAGATCGCCCACTTGGAGCTCGTCTTCCCCACAACCAGCACCCAATTAGAGAACTCGAGTCTGGCCTCCTGGGTTCAGGAGGACGCCTAGTGCTCGCGCCAGAATTTCTTTGTTTAATTCTTGACTCCCTCCGCACACACCCCCTGCAACTGACCAACCAGGAGTGGGCCGAGCCCTTTCCTACGGCCAATAAGAGGAGAAACCCAGCTGGCCAATCGGTTTCCCGCACTCGTCTTCCGCCCCTACCCCGTCCGCTTCTTAAAGGGGCTAGCCTATCTCTGTCTGGGCCCCCCGATTTCCACAGGCAAGGCTACCTTAGCCCTTTTAAAAGGCAGAGCTGCGGAGGGGGCCGGATTCTAGGAGGAACCAATGAAAAGCCTCACTCGGCCTCCGCTCCTCCCACTTCTTGCTGAGGTCAAAGGCCTGCGTCAGTTGCACTGTAGCCTCGGCAGTGAACCGGGAGGTACTACCAGGTAAGGAAGGTGCGGTAGCCCCAGCCGTGGGTGAGAGGAGCTCCGCTCTGACACCCCCGCTCCTGTAGGTCGCCGTCGTTGCTCCGCTCGCTCTGAGAGAGCATGGCCCTGAGAGGCGTCTCCGTGCGGCTGCTGAGCCGCGGACCCGGCCTGCACGTCCTTCGCACGTGGGTCTCGTCGGCGGCGCAGACCGGTCAGTGTGGGGTCGGGAGTGTGGAGGGAAGGAGGGAGGAACTGGGGGTTTAGGGACTTTCCGGGGTGACTTTCCCGTTCTGTGCTTGCAGAGAAAGGCGGGAGAACACAGAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCTGTTGGCCAATCGCAACGAAGGTGGGCGGGCTGGTGGGTGCCCTGAGACTGCTCCTCCGCCTGGAGCCATAGCCACCCCACCTCAAGGCCCCTCTGTCCTTGGGGCTGGGGCTTCCTGTGGCCTAGGCCTGGGCCTGAATTTGGGCACTGGTCCCTTTGCAGTTTTTCATCGGGAGATCATTTCGGAGATGGGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAGGTAGGAACAAGTATCTCTCCACACACTGCAGAACCCTCTGTATTCTGAAAGCCTCTTCCTCCTTCCCTCCCTCCCTTTCTTCCTTCCTTCTCTTTCTTTTCTTTTCCTTTTCTTTCCTTTCTTCTTCCCCCCCAACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAATTCTGCCTCCCAGGCTCAAGCGATTCTCCTGCCTCCACCCCTCTAGTAGCTGGGATTACAGGTATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTCAGCCTTCTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTTAAGTGATTATCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGATTACAGGTGTGAGCCACCGTTGCCCGGCCCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGCCTGGATTACTGGATTACAGTGGTGCGATCCTGGCTCACTGCAGTTTCCTCCTCCTAGGTTCAAGCAATTCTGCCACCTCAGCCTTCTGAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAAATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAAACGTGAGCCACCGTGCCTGGCCCCTTTGTTTCTTTTTTTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGTTCTCAAGTGATCCTCTTGCCTTACTGAAAGCCCCCTTCTTTCCCTAAGCCACAATTTCCCAGTCTGTAAAGTGGGGCTGTTGTCCCACCCTCTGAAAGTGGCTGTGGAGATGAAATGAATAAACCTCAGCTAGGGCCAGCTTGGTGCCTGCCTCCTTGTGTGTCCTTATTCAGCCCTGTCTCTTGGGTCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTTTCCCCTCCTACTACCACCAGGATATGGCTGTGCTGGGGTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCGATGAGTGTCCAGTCCTCCCTCGTCATGCACCCTATCTATGCCTATGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAA 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CCTCAGGTGACCCACCCTCCTTGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCGCCCCAGCCAGTCAAAACCTACACTTTATACAGTCACACCACCGGTCACTTTTACAATATGTAAAGTAATTATTTAGTCACAGTTGCATAGCTACCAGTGCCCAACCGTAGGGGATGCACCCAGTTAAACACAGACAAACGCAAGGACATGGCATCACAGGTCCTGAGAATCAAGACACACACATTTCTCAACAGATACACAATCAGAATGGGTGCACCACAAATGCACTACACAAAAAGACAAAACAGGCGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGGTGAAACCCGTCTCTATTAAATATAAGAAAAAAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGTAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCTACTGCACTCCAGCCTGGGCAACAGAGTGAGAATCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGCATGATGGCATGCTTCAGTGGTCCCAGCTACTTGGAGGCTGAGGTGGGAGGATCGCCCAGGAGGTGGAAGCTGCAGTGAGCTATGATCGCGCCACTGCACTCCAGCCTGAGCGACAGAACGAGACCCTGTCTAAAAAGAAAAAACAAAAACAAAACAAAACAACCACATAGACTCACAGAATCACACAAGTTCACACACACACACACATACACAGACACAGACACACACACACACACACACACACACACACAGAGTCACAAGTATCTACATGTGCTTCCTGGGACAGACTGGCAGAAAGGTTTGCTAAGATCGCCCACTTGGAGCTCGTCTTCCCCACAACCAGCACCCAATTAGAGAACTCGAGTCTGGCCTCCTGGGTTCAGGAGGACGCCTAGTGCTCGCGCCAGAATTTCTTTGTTTAATTCTTGACTCCCTCCGCACACACCCCCTGCAACTGACCAACCAGGAGTGGGCCGAGCCCTTTCCTACGGCCAATAAGAGGAGAAACCCAGCTGGCCAATCGGTTTCCCGCACTCGTCTTCCGCCCCTACCCCGTCCGCTTCTTAAAGGGGCTAGCCTATCTCTGTCTGGGCCCCCCGATTTCCACAGGCAAGGCTACCTTAGCCCTTTTAAAAGGCAGAGCTGCGGAGGGGGCCGGATTCTAGGAGGAACCAATGAAAAGCCTCACTCGGCCTCCGCTCCTCCCACTTCTTGCTGAGGTCAAAGGCCTGCGTCAGTTGCACTGTAGCCTCGGCAGTGAACCGGGAGGTACTACCAGGTAAGGAAGGTGCGGTAGCCCCAGCCGTGGGTGAGAGGAGCTCCGCTCTGACACCCCCGCTCCTGTAGGTCGCCGTCGTTGCTCCGCTCGCTCTGAGAGAGCATGGCCCTGAGAGGCGTCTCCGTGCGGCTGCTGAGCCGCGGACCCGGCCTGCACGTCCTTCGCACGTGGGTCTCGTCGGCGGCGCAGACCGGTCAGTGTGGGGTCGGGAGTGTGGAGGGAAGGAGGGAGGAACTGGGGGTTTAGGGACTTTCCGGGGTGACTTTCCCGTTCTGTGCTTGCAGAGAAAGGCGGGAGAACACAGAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGCCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCTGTTGGCCAATCGCAACGAAGGTGGGCGGGCTGGTGGGTGCCCTGAGACTGCTCCTCCGCCTGGAGCCATAGCCACCCCACCTCAAGGCCCCTCTGTCCTTGGGGCTGGGGCTTCCTGTGGCCTAGGCCTGGGCCTGAATTTGGGCACTGGTCCCTTTGCAGTTTTTCATCGGGAGATCATTTCGGAGATGGGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAGGTAGGAACAAGTATCTCTCCACACACTGCAGAACCCTCTGTATTCTGAAAGCCTCTTCCTCCTTCCCTCCCTCCCTTTCTTCCTTCCTTCTCTTTCTTTTCTTTTCCTTTTCTTTCCTTTCTTCTTCCCCCCCAACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAATTCTGCCTCCCAGGCTCAAGCGATTCTCCTGCCTCCACCCCTCTAGTAGCTGGGATTACAGGTATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTCAGCCTTCTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTTAAGTGATTATCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGATTACAGGTGTGAGCCACCGTTGCCCGGCCCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGCCTGGATTACTGGATTACAGTGGTGCGATCCTGGCTCACTGCAGTTTCCTCCTCCTAGGTTCAAGCAATTCTGCCACCTCAGCCTTCTGAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAAATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAAACGTGAGCCACCGTGCCTGGCCCCTTTGTTTCTTTTTTTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGTTCTCAAGTGATCCTCTTGCCTTACTGAAAGCCCCCTTCTTTCCCTAAGCCACAATTTCCCAGTCTGTAAAGTGGGGCTGTTGTCCCACCCTCTGAAAGTGGCTGTGGAGATGAAATGAATAAACCTCAGCTAGGGCCAGCTTGGTGCCTGCCTCCTTGTGTGTCCTTATTCAGCCCTGTCTCTTGGGTCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTTTCCCCTCCTACTACCACCAGGATATGGCTGTGCTGGGGTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCGATGAGTGTCCAGTCCTCCCTCGTCATGCACCCTATCTATGCCTATGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAA 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Task1_train_26582 | A mutation in GCDH (glutaryl-CoA dehydrogenase), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Glutaric aciduria, type 1 | TTTACAATATGTAAAGTAATTATTTAGTCACAGTTGCATAGCTACCAGTGCCCAACCGTAGGGGATGCACCCAGTTAAACACAGACAAACGCAAGGACATGGCATCACAGGTCCTGAGAATCAAGACACACACATTTCTCAACAGATACACAATCAGAATGGGTGCACCACAAATGCACTACACAAAAAGACAAAACAGGCGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGGTGAAACCCGTCTCTATTAAATATAAGAAAAAAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGTAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCTACTGCACTCCAGCCTGGGCAACAGAGTGAGAATCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGCATGATGGCATGCTTCAGTGGTCCCAGCTACTTGGAGGCTGAGGTGGGAGGATCGCCCAGGAGGTGGAAGCTGCAGTGAGCTATGATCGCGCCACTGCACTCCAGCCTGAGCGACAGAACGAGACCCTGTCTAAAAAGAAAAAACAAAAACAAAACAAAACAACCACATAGACTCACAGAATCACACAAGTTCACACACACACACACATACACAGACACAGACACACACACACACACACACACACACACACAGAGTCACAAGTATCTACATGTGCTTCCTGGGACAGACTGGCAGAAAGGTTTGCTAAGATCGCCCACTTGGAGCTCGTCTTCCCCACAACCAGCACCCAATTAGAGAACTCGAGTCTGGCCTCCTGGGTTCAGGAGGACGCCTAGTGCTCGCGCCAGAATTTCTTTGTTTAATTCTTGACTCCCTCCGCACACACCCCCTGCAACTGACCAACCAGGAGTGGGCCGAGCCCTTTCCTACGGCCAATAAGAGGAGAAACCCAGCTGGCCAATCGGTTTCCCGCACTCGTCTTCCGCCCCTACCCCGTCCGCTTCTTAAAGGGGCTAGCCTATCTCTGTCTGGGCCCCCCGATTTCCACAGGCAAGGCTACCTTAGCCCTTTTAAAAGGCAGAGCTGCGGAGGGGGCCGGATTCTAGGAGGAACCAATGAAAAGCCTCACTCGGCCTCCGCTCCTCCCACTTCTTGCTGAGGTCAAAGGCCTGCGTCAGTTGCACTGTAGCCTCGGCAGTGAACCGGGAGGTACTACCAGGTAAGGAAGGTGCGGTAGCCCCAGCCGTGGGTGAGAGGAGCTCCGCTCTGACACCCCCGCTCCTGTAGGTCGCCGTCGTTGCTCCGCTCGCTCTGAGAGAGCATGGCCCTGAGAGGCGTCTCCGTGCGGCTGCTGAGCCGCGGACCCGGCCTGCACGTCCTTCGCACGTGGGTCTCGTCGGCGGCGCAGACCGGTCAGTGTGGGGTCGGGAGTGTGGAGGGAAGGAGGGAGGAACTGGGGGTTTAGGGACTTTCCGGGGTGACTTTCCCGTTCTGTGCTTGCAGAGAAAGGCGGGAGAACACAGAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCTGTTGGCCAATCGCAACGAAGGTGGGCGGGCTGGTGGGTGCCCTGAGACTGCTCCTCCGCCTGGAGCCATAGCCACCCCACCTCAAGGCCCCTCTGTCCTTGGGGCTGGGGCTTCCTGTGGCCTAGGCCTGGGCCTGAATTTGGGCACTGGTCCCTTTGCAGTTTTTCATCGGGAGATCATTTCGGAGATGGGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAGGTAGGAACAAGTATCTCTCCACACACTGCAGAACCCTCTGTATTCTGAAAGCCTCTTCCTCCTTCCCTCCCTCCCTTTCTTCCTTCCTTCTCTTTCTTTTCTTTTCCTTTTCTTTCCTTTCTTCTTCCCCCCCAACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAATTCTGCCTCCCAGGCTCAAGCGATTCTCCTGCCTCCACCCCTCTAGTAGCTGGGATTACAGGTATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTCAGCCTTCTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTTAAGTGATTATCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGATTACAGGTGTGAGCCACCGTTGCCCGGCCCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGCCTGGATTACTGGATTACAGTGGTGCGATCCTGGCTCACTGCAGTTTCCTCCTCCTAGGTTCAAGCAATTCTGCCACCTCAGCCTTCTGAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAAATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAAACGTGAGCCACCGTGCCTGGCCCCTTTGTTTCTTTTTTTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGTTCTCAAGTGATCCTCTTGCCTTACTGAAAGCCCCCTTCTTTCCCTAAGCCACAATTTCCCAGTCTGTAAAGTGGGGCTGTTGTCCCACCCTCTGAAAGTGGCTGTGGAGATGAAATGAATAAACCTCAGCTAGGGCCAGCTTGGTGCCTGCCTCCTTGTGTGTCCTTATTCAGCCCTGTCTCTTGGGTCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTTTCCCCTCCTACTACCACCAGGATATGGCTGTGCTGGGGTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCGATGAGTGTCCAGTCCTCCCTCGTCATGCACCCTATCTATGCCTATGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAAGTCCACCAGGTTCCTGCTGGCCATTTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGC 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TTTACAATATGTAAAGTAATTATTTAGTCACAGTTGCATAGCTACCAGTGCCCAACCGTAGGGGATGCACCCAGTTAAACACAGACAAACGCAAGGACATGGCATCACAGGTCCTGAGAATCAAGACACACACATTTCTCAACAGATACACAATCAGAATGGGTGCACCACAAATGCACTACACAAAAAGACAAAACAGGCGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGGTGAAACCCGTCTCTATTAAATATAAGAAAAAAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGTAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCTACTGCACTCCAGCCTGGGCAACAGAGTGAGAATCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGCATGATGGCATGCTTCAGTGGTCCCAGCTACTTGGAGGCTGAGGTGGGAGGATCGCCCAGGAGGTGGAAGCTGCAGTGAGCTATGATCGCGCCACTGCACTCCAGCCTGAGCGACAGAACGAGACCCTGTCTAAAAAGAAAAAACAAAAACAAAACAAAACAACCACATAGACTCACAGAATCACACAAGTTCACACACACACACACATACACAGACACAGACACACACACACACACACACACACACACACAGAGTCACAAGTATCTACATGTGCTTCCTGGGACAGACTGGCAGAAAGGTTTGCTAAGATCGCCCACTTGGAGCTCGTCTTCCCCACAACCAGCACCCAATTAGAGAACTCGAGTCTGGCCTCCTGGGTTCAGGAGGACGCCTAGTGCTCGCGCCAGAATTTCTTTGTTTAATTCTTGACTCCCTCCGCACACACCCCCTGCAACTGACCAACCAGGAGTGGGCCGAGCCCTTTCCTACGGCCAATAAGAGGAGAAACCCAGCTGGCCAATCGGTTTCCCGCACTCGTCTTCCGCCCCTACCCCGTCCGCTTCTTAAAGGGGCTAGCCTATCTCTGTCTGGGCCCCCCGATTTCCACAGGCAAGGCTACCTTAGCCCTTTTAAAAGGCAGAGCTGCGGAGGGGGCCGGATTCTAGGAGGAACCAATGAAAAGCCTCACTCGGCCTCCGCTCCTCCCACTTCTTGCTGAGGTCAAAGGCCTGCGTCAGTTGCACTGTAGCCTCGGCAGTGAACCGGGAGGTACTACCAGGTAAGGAAGGTGCGGTAGCCCCAGCCGTGGGTGAGAGGAGCTCCGCTCTGACACCCCCGCTCCTGTAGGTCGCCGTCGTTGCTCCGCTCGCTCTGAGAGAGCATGGCCCTGAGAGGCGTCTCCGTGCGGCTGCTGAGCCGCGGACCCGGCCTGCACGTCCTTCGCACGTGGGTCTCGTCGGCGGCGCAGACCGGTCAGTGTGGGGTCGGGAGTGTGGAGGGAAGGAGGGAGGAACTGGGGGTTTAGGGACTTTCCGGGGTGACTTTCCCGTTCTGTGCTTGCAGAGAAAGGCGGGAGAACACAGAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCTGTTGGGCAATCGCAACGAAGGTGGGCGGGCTGGTGGGTGCCCTGAGACTGCTCCTCCGCCTGGAGCCATAGCCACCCCACCTCAAGGCCCCTCTGTCCTTGGGGCTGGGGCTTCCTGTGGCCTAGGCCTGGGCCTGAATTTGGGCACTGGTCCCTTTGCAGTTTTTCATCGGGAGATCATTTCGGAGATGGGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAGGTAGGAACAAGTATCTCTCCACACACTGCAGAACCCTCTGTATTCTGAAAGCCTCTTCCTCCTTCCCTCCCTCCCTTTCTTCCTTCCTTCTCTTTCTTTTCTTTTCCTTTTCTTTCCTTTCTTCTTCCCCCCCAACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAATTCTGCCTCCCAGGCTCAAGCGATTCTCCTGCCTCCACCCCTCTAGTAGCTGGGATTACAGGTATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTCAGCCTTCTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTTAAGTGATTATCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGATTACAGGTGTGAGCCACCGTTGCCCGGCCCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGCCTGGATTACTGGATTACAGTGGTGCGATCCTGGCTCACTGCAGTTTCCTCCTCCTAGGTTCAAGCAATTCTGCCACCTCAGCCTTCTGAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAAATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAAACGTGAGCCACCGTGCCTGGCCCCTTTGTTTCTTTTTTTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGTTCTCAAGTGATCCTCTTGCCTTACTGAAAGCCCCCTTCTTTCCCTAAGCCACAATTTCCCAGTCTGTAAAGTGGGGCTGTTGTCCCACCCTCTGAAAGTGGCTGTGGAGATGAAATGAATAAACCTCAGCTAGGGCCAGCTTGGTGCCTGCCTCCTTGTGTGTCCTTATTCAGCCCTGTCTCTTGGGTCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTTTCCCCTCCTACTACCACCAGGATATGGCTGTGCTGGGGTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCGATGAGTGTCCAGTCCTCCCTCGTCATGCACCCTATCTATGCCTATGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAAGTCCACCAGGTTCCTGCTGGCCATTTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGC 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Task1_train_26583 | This sequence change occurs on Chromosome 19, altering GCDH (glutaryl-CoA dehydrogenase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not specified | TTTACAATATGTAAAGTAATTATTTAGTCACAGTTGCATAGCTACCAGTGCCCAACCGTAGGGGATGCACCCAGTTAAACACAGACAAACGCAAGGACATGGCATCACAGGTCCTGAGAATCAAGACACACACATTTCTCAACAGATACACAATCAGAATGGGTGCACCACAAATGCACTACACAAAAAGACAAAACAGGCGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGGTGAAACCCGTCTCTATTAAATATAAGAAAAAAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGTAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCTACTGCACTCCAGCCTGGGCAACAGAGTGAGAATCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGCATGATGGCATGCTTCAGTGGTCCCAGCTACTTGGAGGCTGAGGTGGGAGGATCGCCCAGGAGGTGGAAGCTGCAGTGAGCTATGATCGCGCCACTGCACTCCAGCCTGAGCGACAGAACGAGACCCTGTCTAAAAAGAAAAAACAAAAACAAAACAAAACAACCACATAGACTCACAGAATCACACAAGTTCACACACACACACACATACACAGACACAGACACACACACACACACACACACACACACACAGAGTCACAAGTATCTACATGTGCTTCCTGGGACAGACTGGCAGAAAGGTTTGCTAAGATCGCCCACTTGGAGCTCGTCTTCCCCACAACCAGCACCCAATTAGAGAACTCGAGTCTGGCCTCCTGGGTTCAGGAGGACGCCTAGTGCTCGCGCCAGAATTTCTTTGTTTAATTCTTGACTCCCTCCGCACACACCCCCTGCAACTGACCAACCAGGAGTGGGCCGAGCCCTTTCCTACGGCCAATAAGAGGAGAAACCCAGCTGGCCAATCGGTTTCCCGCACTCGTCTTCCGCCCCTACCCCGTCCGCTTCTTAAAGGGGCTAGCCTATCTCTGTCTGGGCCCCCCGATTTCCACAGGCAAGGCTACCTTAGCCCTTTTAAAAGGCAGAGCTGCGGAGGGGGCCGGATTCTAGGAGGAACCAATGAAAAGCCTCACTCGGCCTCCGCTCCTCCCACTTCTTGCTGAGGTCAAAGGCCTGCGTCAGTTGCACTGTAGCCTCGGCAGTGAACCGGGAGGTACTACCAGGTAAGGAAGGTGCGGTAGCCCCAGCCGTGGGTGAGAGGAGCTCCGCTCTGACACCCCCGCTCCTGTAGGTCGCCGTCGTTGCTCCGCTCGCTCTGAGAGAGCATGGCCCTGAGAGGCGTCTCCGTGCGGCTGCTGAGCCGCGGACCCGGCCTGCACGTCCTTCGCACGTGGGTCTCGTCGGCGGCGCAGACCGGTCAGTGTGGGGTCGGGAGTGTGGAGGGAAGGAGGGAGGAACTGGGGGTTTAGGGACTTTCCGGGGTGACTTTCCCGTTCTGTGCTTGCAGAGAAAGGCGGGAGAACACAGAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCTGTTGGCCAATCGCAACGAAGGTGGGCGGGCTGGTGGGTGCCCTGAGACTGCTCCTCCGCCTGGAGCCATAGCCACCCCACCTCAAGGCCCCTCTGTCCTTGGGGCTGGGGCTTCCTGTGGCCTAGGCCTGGGCCTGAATTTGGGCACTGGTCCCTTTGCAGTTTTTCATCGGGAGATCATTTCGGAGATGGGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAGGTAGGAACAAGTATCTCTCCACACACTGCAGAACCCTCTGTATTCTGAAAGCCTCTTCCTCCTTCCCTCCCTCCCTTTCTTCCTTCCTTCTCTTTCTTTTCTTTTCCTTTTCTTTCCTTTCTTCTTCCCCCCCAACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAATTCTGCCTCCCAGGCTCAAGCGATTCTCCTGCCTCCACCCCTCTAGTAGCTGGGATTACAGGTATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTCAGCCTTCTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTTAAGTGATTATCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGATTACAGGTGTGAGCCACCGTTGCCCGGCCCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGCCTGGATTACTGGATTACAGTGGTGCGATCCTGGCTCACTGCAGTTTCCTCCTCCTAGGTTCAAGCAATTCTGCCACCTCAGCCTTCTGAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAAATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAAACGTGAGCCACCGTGCCTGGCCCCTTTGTTTCTTTTTTTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGTTCTCAAGTGATCCTCTTGCCTTACTGAAAGCCCCCTTCTTTCCCTAAGCCACAATTTCCCAGTCTGTAAAGTGGGGCTGTTGTCCCACCCTCTGAAAGTGGCTGTGGAGATGAAATGAATAAACCTCAGCTAGGGCCAGCTTGGTGCCTGCCTCCTTGTGTGTCCTTATTCAGCCCTGTCTCTTGGGTCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTTTCCCCTCCTACTACCACCAGGATATGGCTGTGCTGGGGTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCGATGAGTGTCCAGTCCTCCCTCGTCATGCACCCTATCTATGCCTATGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAAGTCCACCAGGTTCCTGCTGGCCATTTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGC 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TTTACAATATGTAAAGTAATTATTTAGTCACAGTTGCATAGCTACCAGTGCCCAACCGTAGGGGATGCACCCAGTTAAACACAGACAAACGCAAGGACATGGCATCACAGGTCCTGAGAATCAAGACACACACATTTCTCAACAGATACACAATCAGAATGGGTGCACCACAAATGCACTACACAAAAAGACAAAACAGGCGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGGTGAAACCCGTCTCTATTAAATATAAGAAAAAAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGTAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCTACTGCACTCCAGCCTGGGCAACAGAGTGAGAATCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGCATGATGGCATGCTTCAGTGGTCCCAGCTACTTGGAGGCTGAGGTGGGAGGATCGCCCAGGAGGTGGAAGCTGCAGTGAGCTATGATCGCGCCACTGCACTCCAGCCTGAGCGACAGAACGAGACCCTGTCTAAAAAGAAAAAACAAAAACAAAACAAAACAACCACATAGACTCACAGAATCACACAAGTTCACACACACACACACATACACAGACACAGACACACACACACACACACACACACACACACAGAGTCACAAGTATCTACATGTGCTTCCTGGGACAGACTGGCAGAAAGGTTTGCTAAGATCGCCCACTTGGAGCTCGTCTTCCCCACAACCAGCACCCAATTAGAGAACTCGAGTCTGGCCTCCTGGGTTCAGGAGGACGCCTAGTGCTCGCGCCAGAATTTCTTTGTTTAATTCTTGACTCCCTCCGCACACACCCCCTGCAACTGACCAACCAGGAGTGGGCCGAGCCCTTTCCTACGGCCAATAAGAGGAGAAACCCAGCTGGCCAATCGGTTTCCCGCACTCGTCTTCCGCCCCTACCCCGTCCGCTTCTTAAAGGGGCTAGCCTATCTCTGTCTGGGCCCCCCGATTTCCACAGGCAAGGCTACCTTAGCCCTTTTAAAAGGCAGAGCTGCGGAGGGGGCCGGATTCTAGGAGGAACCAATGAAAAGCCTCACTCGGCCTCCGCTCCTCCCACTTCTTGCTGAGGTCAAAGGCCTGCGTCAGTTGCACTGTAGCCTCGGCAGTGAACCGGGAGGTACTACCAGGTAAGGAAGGTGCGGTAGCCCCAGCCGTGGGTGAGAGGAGCTCCGCTCTGACACCCCCGCTCCTGTAGGTCGCCGTCGTTGCTCCGCTCGCTCTGAGAGAGCATGGCCCTGAGAGGCGTCTCCGTGCGGCTGCTGAGCCGCGGACCCGGCCTGCACGTCCTTCGCACGTGGGTCTCGTCGGCGGCGCAGACCGGTCAGTGTGGGGTCGGGAGTGTGGAGGGAAGGAGGGAGGAACTGGGGGTTTAGGGACTTTCCGGGGTGACTTTCCCGTTCTGTGCTTGCAGAGAAAGGCGGGAGAACACAGAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCTGTTGGGCAATCGCAACGAAGGTGGGCGGGCTGGTGGGTGCCCTGAGACTGCTCCTCCGCCTGGAGCCATAGCCACCCCACCTCAAGGCCCCTCTGTCCTTGGGGCTGGGGCTTCCTGTGGCCTAGGCCTGGGCCTGAATTTGGGCACTGGTCCCTTTGCAGTTTTTCATCGGGAGATCATTTCGGAGATGGGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAGGTAGGAACAAGTATCTCTCCACACACTGCAGAACCCTCTGTATTCTGAAAGCCTCTTCCTCCTTCCCTCCCTCCCTTTCTTCCTTCCTTCTCTTTCTTTTCTTTTCCTTTTCTTTCCTTTCTTCTTCCCCCCCAACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAATTCTGCCTCCCAGGCTCAAGCGATTCTCCTGCCTCCACCCCTCTAGTAGCTGGGATTACAGGTATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTCAGCCTTCTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTTAAGTGATTATCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGATTACAGGTGTGAGCCACCGTTGCCCGGCCCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGCCTGGATTACTGGATTACAGTGGTGCGATCCTGGCTCACTGCAGTTTCCTCCTCCTAGGTTCAAGCAATTCTGCCACCTCAGCCTTCTGAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAAATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAAACGTGAGCCACCGTGCCTGGCCCCTTTGTTTCTTTTTTTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGTTCTCAAGTGATCCTCTTGCCTTACTGAAAGCCCCCTTCTTTCCCTAAGCCACAATTTCCCAGTCTGTAAAGTGGGGCTGTTGTCCCACCCTCTGAAAGTGGCTGTGGAGATGAAATGAATAAACCTCAGCTAGGGCCAGCTTGGTGCCTGCCTCCTTGTGTGTCCTTATTCAGCCCTGTCTCTTGGGTCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTTTCCCCTCCTACTACCACCAGGATATGGCTGTGCTGGGGTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCGATGAGTGTCCAGTCCTCCCTCGTCATGCACCCTATCTATGCCTATGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAAGTCCACCAGGTTCCTGCTGGCCATTTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGC 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Task1_train_26584 | A sequence alteration has been identified in GCDH (glutaryl-CoA dehydrogenase) on Chromosome 19. Is it disease-inducing or harmless? | Pathogenic; Glutaric aciduria, type 1 | AATATGTAAAGTAATTATTTAGTCACAGTTGCATAGCTACCAGTGCCCAACCGTAGGGGATGCACCCAGTTAAACACAGACAAACGCAAGGACATGGCATCACAGGTCCTGAGAATCAAGACACACACATTTCTCAACAGATACACAATCAGAATGGGTGCACCACAAATGCACTACACAAAAAGACAAAACAGGCGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGGTGAAACCCGTCTCTATTAAATATAAGAAAAAAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGTAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCTACTGCACTCCAGCCTGGGCAACAGAGTGAGAATCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGCATGATGGCATGCTTCAGTGGTCCCAGCTACTTGGAGGCTGAGGTGGGAGGATCGCCCAGGAGGTGGAAGCTGCAGTGAGCTATGATCGCGCCACTGCACTCCAGCCTGAGCGACAGAACGAGACCCTGTCTAAAAAGAAAAAACAAAAACAAAACAAAACAACCACATAGACTCACAGAATCACACAAGTTCACACACACACACACATACACAGACACAGACACACACACACACACACACACACACACACAGAGTCACAAGTATCTACATGTGCTTCCTGGGACAGACTGGCAGAAAGGTTTGCTAAGATCGCCCACTTGGAGCTCGTCTTCCCCACAACCAGCACCCAATTAGAGAACTCGAGTCTGGCCTCCTGGGTTCAGGAGGACGCCTAGTGCTCGCGCCAGAATTTCTTTGTTTAATTCTTGACTCCCTCCGCACACACCCCCTGCAACTGACCAACCAGGAGTGGGCCGAGCCCTTTCCTACGGCCAATAAGAGGAGAAACCCAGCTGGCCAATCGGTTTCCCGCACTCGTCTTCCGCCCCTACCCCGTCCGCTTCTTAAAGGGGCTAGCCTATCTCTGTCTGGGCCCCCCGATTTCCACAGGCAAGGCTACCTTAGCCCTTTTAAAAGGCAGAGCTGCGGAGGGGGCCGGATTCTAGGAGGAACCAATGAAAAGCCTCACTCGGCCTCCGCTCCTCCCACTTCTTGCTGAGGTCAAAGGCCTGCGTCAGTTGCACTGTAGCCTCGGCAGTGAACCGGGAGGTACTACCAGGTAAGGAAGGTGCGGTAGCCCCAGCCGTGGGTGAGAGGAGCTCCGCTCTGACACCCCCGCTCCTGTAGGTCGCCGTCGTTGCTCCGCTCGCTCTGAGAGAGCATGGCCCTGAGAGGCGTCTCCGTGCGGCTGCTGAGCCGCGGACCCGGCCTGCACGTCCTTCGCACGTGGGTCTCGTCGGCGGCGCAGACCGGTCAGTGTGGGGTCGGGAGTGTGGAGGGAAGGAGGGAGGAACTGGGGGTTTAGGGACTTTCCGGGGTGACTTTCCCGTTCTGTGCTTGCAGAGAAAGGCGGGAGAACACAGAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCTGTTGGCCAATCGCAACGAAGGTGGGCGGGCTGGTGGGTGCCCTGAGACTGCTCCTCCGCCTGGAGCCATAGCCACCCCACCTCAAGGCCCCTCTGTCCTTGGGGCTGGGGCTTCCTGTGGCCTAGGCCTGGGCCTGAATTTGGGCACTGGTCCCTTTGCAGTTTTTCATCGGGAGATCATTTCGGAGATGGGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAGGTAGGAACAAGTATCTCTCCACACACTGCAGAACCCTCTGTATTCTGAAAGCCTCTTCCTCCTTCCCTCCCTCCCTTTCTTCCTTCCTTCTCTTTCTTTTCTTTTCCTTTTCTTTCCTTTCTTCTTCCCCCCCAACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAATTCTGCCTCCCAGGCTCAAGCGATTCTCCTGCCTCCACCCCTCTAGTAGCTGGGATTACAGGTATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTCAGCCTTCTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTTAAGTGATTATCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGATTACAGGTGTGAGCCACCGTTGCCCGGCCCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGCCTGGATTACTGGATTACAGTGGTGCGATCCTGGCTCACTGCAGTTTCCTCCTCCTAGGTTCAAGCAATTCTGCCACCTCAGCCTTCTGAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAAATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAAACGTGAGCCACCGTGCCTGGCCCCTTTGTTTCTTTTTTTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGTTCTCAAGTGATCCTCTTGCCTTACTGAAAGCCCCCTTCTTTCCCTAAGCCACAATTTCCCAGTCTGTAAAGTGGGGCTGTTGTCCCACCCTCTGAAAGTGGCTGTGGAGATGAAATGAATAAACCTCAGCTAGGGCCAGCTTGGTGCCTGCCTCCTTGTGTGTCCTTATTCAGCCCTGTCTCTTGGGTCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTTTCCCCTCCTACTACCACCAGGATATGGCTGTGCTGGGGTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCGATGAGTGTCCAGTCCTCCCTCGTCATGCACCCTATCTATGCCTATGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAAGTCCACCAGGTTCCTGCTGGCCATTTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGG 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AATATGTAAAGTAATTATTTAGTCACAGTTGCATAGCTACCAGTGCCCAACCGTAGGGGATGCACCCAGTTAAACACAGACAAACGCAAGGACATGGCATCACAGGTCCTGAGAATCAAGACACACACATTTCTCAACAGATACACAATCAGAATGGGTGCACCACAAATGCACTACACAAAAAGACAAAACAGGCGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGGTGAAACCCGTCTCTATTAAATATAAGAAAAAAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGTAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCTACTGCACTCCAGCCTGGGCAACAGAGTGAGAATCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGCATGATGGCATGCTTCAGTGGTCCCAGCTACTTGGAGGCTGAGGTGGGAGGATCGCCCAGGAGGTGGAAGCTGCAGTGAGCTATGATCGCGCCACTGCACTCCAGCCTGAGCGACAGAACGAGACCCTGTCTAAAAAGAAAAAACAAAAACAAAACAAAACAACCACATAGACTCACAGAATCACACAAGTTCACACACACACACACATACACAGACACAGACACACACACACACACACACACACACACACAGAGTCACAAGTATCTACATGTGCTTCCTGGGACAGACTGGCAGAAAGGTTTGCTAAGATCGCCCACTTGGAGCTCGTCTTCCCCACAACCAGCACCCAATTAGAGAACTCGAGTCTGGCCTCCTGGGTTCAGGAGGACGCCTAGTGCTCGCGCCAGAATTTCTTTGTTTAATTCTTGACTCCCTCCGCACACACCCCCTGCAACTGACCAACCAGGAGTGGGCCGAGCCCTTTCCTACGGCCAATAAGAGGAGAAACCCAGCTGGCCAATCGGTTTCCCGCACTCGTCTTCCGCCCCTACCCCGTCCGCTTCTTAAAGGGGCTAGCCTATCTCTGTCTGGGCCCCCCGATTTCCACAGGCAAGGCTACCTTAGCCCTTTTAAAAGGCAGAGCTGCGGAGGGGGCCGGATTCTAGGAGGAACCAATGAAAAGCCTCACTCGGCCTCCGCTCCTCCCACTTCTTGCTGAGGTCAAAGGCCTGCGTCAGTTGCACTGTAGCCTCGGCAGTGAACCGGGAGGTACTACCAGGTAAGGAAGGTGCGGTAGCCCCAGCCGTGGGTGAGAGGAGCTCCGCTCTGACACCCCCGCTCCTGTAGGTCGCCGTCGTTGCTCCGCTCGCTCTGAGAGAGCATGGCCCTGAGAGGCGTCTCCGTGCGGCTGCTGAGCCGCGGACCCGGCCTGCACGTCCTTCGCACGTGGGTCTCGTCGGCGGCGCAGACCGGTCAGTGTGGGGTCGGGAGTGTGGAGGGAAGGAGGGAGGAACTGGGGGTTTAGGGACTTTCCGGGGTGACTTTCCCGTTCTGTGCTTGCAGAGAAAGGCGGGAGAACACAGAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCTGTTGGCCAATTGCAACGAAGGTGGGCGGGCTGGTGGGTGCCCTGAGACTGCTCCTCCGCCTGGAGCCATAGCCACCCCACCTCAAGGCCCCTCTGTCCTTGGGGCTGGGGCTTCCTGTGGCCTAGGCCTGGGCCTGAATTTGGGCACTGGTCCCTTTGCAGTTTTTCATCGGGAGATCATTTCGGAGATGGGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAGGTAGGAACAAGTATCTCTCCACACACTGCAGAACCCTCTGTATTCTGAAAGCCTCTTCCTCCTTCCCTCCCTCCCTTTCTTCCTTCCTTCTCTTTCTTTTCTTTTCCTTTTCTTTCCTTTCTTCTTCCCCCCCAACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAATTCTGCCTCCCAGGCTCAAGCGATTCTCCTGCCTCCACCCCTCTAGTAGCTGGGATTACAGGTATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTCAGCCTTCTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTTAAGTGATTATCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGATTACAGGTGTGAGCCACCGTTGCCCGGCCCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGCCTGGATTACTGGATTACAGTGGTGCGATCCTGGCTCACTGCAGTTTCCTCCTCCTAGGTTCAAGCAATTCTGCCACCTCAGCCTTCTGAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAAATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAAACGTGAGCCACCGTGCCTGGCCCCTTTGTTTCTTTTTTTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGTTCTCAAGTGATCCTCTTGCCTTACTGAAAGCCCCCTTCTTTCCCTAAGCCACAATTTCCCAGTCTGTAAAGTGGGGCTGTTGTCCCACCCTCTGAAAGTGGCTGTGGAGATGAAATGAATAAACCTCAGCTAGGGCCAGCTTGGTGCCTGCCTCCTTGTGTGTCCTTATTCAGCCCTGTCTCTTGGGTCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTTTCCCCTCCTACTACCACCAGGATATGGCTGTGCTGGGGTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCGATGAGTGTCCAGTCCTCCCTCGTCATGCACCCTATCTATGCCTATGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAAGTCCACCAGGTTCCTGCTGGCCATTTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGG 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Task1_train_26585 | This variant affects the gene GCDH (glutaryl-CoA dehydrogenase) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Glutaric aciduria, type 1 | TGGGTGCACCACAAATGCACTACACAAAAAGACAAAACAGGCGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGGTGAAACCCGTCTCTATTAAATATAAGAAAAAAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGTAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCTACTGCACTCCAGCCTGGGCAACAGAGTGAGAATCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGCATGATGGCATGCTTCAGTGGTCCCAGCTACTTGGAGGCTGAGGTGGGAGGATCGCCCAGGAGGTGGAAGCTGCAGTGAGCTATGATCGCGCCACTGCACTCCAGCCTGAGCGACAGAACGAGACCCTGTCTAAAAAGAAAAAACAAAAACAAAACAAAACAACCACATAGACTCACAGAATCACACAAGTTCACACACACACACACATACACAGACACAGACACACACACACACACACACACACACACACAGAGTCACAAGTATCTACATGTGCTTCCTGGGACAGACTGGCAGAAAGGTTTGCTAAGATCGCCCACTTGGAGCTCGTCTTCCCCACAACCAGCACCCAATTAGAGAACTCGAGTCTGGCCTCCTGGGTTCAGGAGGACGCCTAGTGCTCGCGCCAGAATTTCTTTGTTTAATTCTTGACTCCCTCCGCACACACCCCCTGCAACTGACCAACCAGGAGTGGGCCGAGCCCTTTCCTACGGCCAATAAGAGGAGAAACCCAGCTGGCCAATCGGTTTCCCGCACTCGTCTTCCGCCCCTACCCCGTCCGCTTCTTAAAGGGGCTAGCCTATCTCTGTCTGGGCCCCCCGATTTCCACAGGCAAGGCTACCTTAGCCCTTTTAAAAGGCAGAGCTGCGGAGGGGGCCGGATTCTAGGAGGAACCAATGAAAAGCCTCACTCGGCCTCCGCTCCTCCCACTTCTTGCTGAGGTCAAAGGCCTGCGTCAGTTGCACTGTAGCCTCGGCAGTGAACCGGGAGGTACTACCAGGTAAGGAAGGTGCGGTAGCCCCAGCCGTGGGTGAGAGGAGCTCCGCTCTGACACCCCCGCTCCTGTAGGTCGCCGTCGTTGCTCCGCTCGCTCTGAGAGAGCATGGCCCTGAGAGGCGTCTCCGTGCGGCTGCTGAGCCGCGGACCCGGCCTGCACGTCCTTCGCACGTGGGTCTCGTCGGCGGCGCAGACCGGTCAGTGTGGGGTCGGGAGTGTGGAGGGAAGGAGGGAGGAACTGGGGGTTTAGGGACTTTCCGGGGTGACTTTCCCGTTCTGTGCTTGCAGAGAAAGGCGGGAGAACACAGAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCTGTTGGCCAATCGCAACGAAGGTGGGCGGGCTGGTGGGTGCCCTGAGACTGCTCCTCCGCCTGGAGCCATAGCCACCCCACCTCAAGGCCCCTCTGTCCTTGGGGCTGGGGCTTCCTGTGGCCTAGGCCTGGGCCTGAATTTGGGCACTGGTCCCTTTGCAGTTTTTCATCGGGAGATCATTTCGGAGATGGGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAGGTAGGAACAAGTATCTCTCCACACACTGCAGAACCCTCTGTATTCTGAAAGCCTCTTCCTCCTTCCCTCCCTCCCTTTCTTCCTTCCTTCTCTTTCTTTTCTTTTCCTTTTCTTTCCTTTCTTCTTCCCCCCCAACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAATTCTGCCTCCCAGGCTCAAGCGATTCTCCTGCCTCCACCCCTCTAGTAGCTGGGATTACAGGTATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTCAGCCTTCTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTTAAGTGATTATCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGATTACAGGTGTGAGCCACCGTTGCCCGGCCCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGCCTGGATTACTGGATTACAGTGGTGCGATCCTGGCTCACTGCAGTTTCCTCCTCCTAGGTTCAAGCAATTCTGCCACCTCAGCCTTCTGAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAAATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAAACGTGAGCCACCGTGCCTGGCCCCTTTGTTTCTTTTTTTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGTTCTCAAGTGATCCTCTTGCCTTACTGAAAGCCCCCTTCTTTCCCTAAGCCACAATTTCCCAGTCTGTAAAGTGGGGCTGTTGTCCCACCCTCTGAAAGTGGCTGTGGAGATGAAATGAATAAACCTCAGCTAGGGCCAGCTTGGTGCCTGCCTCCTTGTGTGTCCTTATTCAGCCCTGTCTCTTGGGTCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTTTCCCCTCCTACTACCACCAGGATATGGCTGTGCTGGGGTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCGATGAGTGTCCAGTCCTCCCTCGTCATGCACCCTATCTATGCCTATGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAAGTCCACCAGGTTCCTGCTGGCCATTTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCT 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TGGGTGCACCACAAATGCACTACACAAAAAGACAAAACAGGCGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGGTGAAACCCGTCTCTATTAAATATAAGAAAAAAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGTAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCTACTGCACTCCAGCCTGGGCAACAGAGTGAGAATCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGCATGATGGCATGCTTCAGTGGTCCCAGCTACTTGGAGGCTGAGGTGGGAGGATCGCCCAGGAGGTGGAAGCTGCAGTGAGCTATGATCGCGCCACTGCACTCCAGCCTGAGCGACAGAACGAGACCCTGTCTAAAAAGAAAAAACAAAAACAAAACAAAACAACCACATAGACTCACAGAATCACACAAGTTCACACACACACACACATACACAGACACAGACACACACACACACACACACACACACACACAGAGTCACAAGTATCTACATGTGCTTCCTGGGACAGACTGGCAGAAAGGTTTGCTAAGATCGCCCACTTGGAGCTCGTCTTCCCCACAACCAGCACCCAATTAGAGAACTCGAGTCTGGCCTCCTGGGTTCAGGAGGACGCCTAGTGCTCGCGCCAGAATTTCTTTGTTTAATTCTTGACTCCCTCCGCACACACCCCCTGCAACTGACCAACCAGGAGTGGGCCGAGCCCTTTCCTACGGCCAATAAGAGGAGAAACCCAGCTGGCCAATCGGTTTCCCGCACTCGTCTTCCGCCCCTACCCCGTCCGCTTCTTAAAGGGGCTAGCCTATCTCTGTCTGGGCCCCCCGATTTCCACAGGCAAGGCTACCTTAGCCCTTTTAAAAGGCAGAGCTGCGGAGGGGGCCGGATTCTAGGAGGAACCAATGAAAAGCCTCACTCGGCCTCCGCTCCTCCCACTTCTTGCTGAGGTCAAAGGCCTGCGTCAGTTGCACTGTAGCCTCGGCAGTGAACCGGGAGGTACTACCAGGTAAGGAAGGTGCGGTAGCCCCAGCCGTGGGTGAGAGGAGCTCCGCTCTGACACCCCCGCTCCTGTAGGTCGCCGTCGTTGCTCCGCTCGCTCTGAGAGAGCATGGCCCTGAGAGGCGTCTCCGTGCGGCTGCTGAGCCGCGGACCCGGCCTGCACGTCCTTCGCACGTGGGTCTCGTCGGCGGCGCAGACCGGTCAGTGTGGGGTCGGGAGTGTGGAGGGAAGGAGGGAGGAACTGGGGGTTTAGGGACTTTCCGGGGTGACTTTCCCGTTCTGTGCTTGCAGAGAAAGGCGGGAGAACACAGAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCTGTTGGCCAATCGCAACGAAGGTGGGCGGGCTGGTGGGTGCCCTGAGACTGCTCCTCCGCCTGGAGCCATAGCCACCCCACCTCAAGGCCCCTCTGTCCTTGGGGCTGGGGCTTCCTGTGGCCTAGGCCTGGGCCTGAATTTGGGCACTGGTCCCTTTGCAGTTTGTCATCGGGAGATCATTTCGGAGATGGGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAGGTAGGAACAAGTATCTCTCCACACACTGCAGAACCCTCTGTATTCTGAAAGCCTCTTCCTCCTTCCCTCCCTCCCTTTCTTCCTTCCTTCTCTTTCTTTTCTTTTCCTTTTCTTTCCTTTCTTCTTCCCCCCCAACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAATTCTGCCTCCCAGGCTCAAGCGATTCTCCTGCCTCCACCCCTCTAGTAGCTGGGATTACAGGTATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTCAGCCTTCTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTTAAGTGATTATCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGATTACAGGTGTGAGCCACCGTTGCCCGGCCCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGCCTGGATTACTGGATTACAGTGGTGCGATCCTGGCTCACTGCAGTTTCCTCCTCCTAGGTTCAAGCAATTCTGCCACCTCAGCCTTCTGAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAAATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAAACGTGAGCCACCGTGCCTGGCCCCTTTGTTTCTTTTTTTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGTTCTCAAGTGATCCTCTTGCCTTACTGAAAGCCCCCTTCTTTCCCTAAGCCACAATTTCCCAGTCTGTAAAGTGGGGCTGTTGTCCCACCCTCTGAAAGTGGCTGTGGAGATGAAATGAATAAACCTCAGCTAGGGCCAGCTTGGTGCCTGCCTCCTTGTGTGTCCTTATTCAGCCCTGTCTCTTGGGTCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTTTCCCCTCCTACTACCACCAGGATATGGCTGTGCTGGGGTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCGATGAGTGTCCAGTCCTCCCTCGTCATGCACCCTATCTATGCCTATGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAAGTCCACCAGGTTCCTGCTGGCCATTTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCT 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Task1_train_26586 | A variant affecting Chromosome 19, within the gene GCDH (glutaryl-CoA dehydrogenase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Glutaric aciduria, type 1 | AAAAAGACAAAACAGGCGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGGTGAAACCCGTCTCTATTAAATATAAGAAAAAAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGTAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCTACTGCACTCCAGCCTGGGCAACAGAGTGAGAATCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGCATGATGGCATGCTTCAGTGGTCCCAGCTACTTGGAGGCTGAGGTGGGAGGATCGCCCAGGAGGTGGAAGCTGCAGTGAGCTATGATCGCGCCACTGCACTCCAGCCTGAGCGACAGAACGAGACCCTGTCTAAAAAGAAAAAACAAAAACAAAACAAAACAACCACATAGACTCACAGAATCACACAAGTTCACACACACACACACATACACAGACACAGACACACACACACACACACACACACACACACAGAGTCACAAGTATCTACATGTGCTTCCTGGGACAGACTGGCAGAAAGGTTTGCTAAGATCGCCCACTTGGAGCTCGTCTTCCCCACAACCAGCACCCAATTAGAGAACTCGAGTCTGGCCTCCTGGGTTCAGGAGGACGCCTAGTGCTCGCGCCAGAATTTCTTTGTTTAATTCTTGACTCCCTCCGCACACACCCCCTGCAACTGACCAACCAGGAGTGGGCCGAGCCCTTTCCTACGGCCAATAAGAGGAGAAACCCAGCTGGCCAATCGGTTTCCCGCACTCGTCTTCCGCCCCTACCCCGTCCGCTTCTTAAAGGGGCTAGCCTATCTCTGTCTGGGCCCCCCGATTTCCACAGGCAAGGCTACCTTAGCCCTTTTAAAAGGCAGAGCTGCGGAGGGGGCCGGATTCTAGGAGGAACCAATGAAAAGCCTCACTCGGCCTCCGCTCCTCCCACTTCTTGCTGAGGTCAAAGGCCTGCGTCAGTTGCACTGTAGCCTCGGCAGTGAACCGGGAGGTACTACCAGGTAAGGAAGGTGCGGTAGCCCCAGCCGTGGGTGAGAGGAGCTCCGCTCTGACACCCCCGCTCCTGTAGGTCGCCGTCGTTGCTCCGCTCGCTCTGAGAGAGCATGGCCCTGAGAGGCGTCTCCGTGCGGCTGCTGAGCCGCGGACCCGGCCTGCACGTCCTTCGCACGTGGGTCTCGTCGGCGGCGCAGACCGGTCAGTGTGGGGTCGGGAGTGTGGAGGGAAGGAGGGAGGAACTGGGGGTTTAGGGACTTTCCGGGGTGACTTTCCCGTTCTGTGCTTGCAGAGAAAGGCGGGAGAACACAGAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCTGTTGGCCAATCGCAACGAAGGTGGGCGGGCTGGTGGGTGCCCTGAGACTGCTCCTCCGCCTGGAGCCATAGCCACCCCACCTCAAGGCCCCTCTGTCCTTGGGGCTGGGGCTTCCTGTGGCCTAGGCCTGGGCCTGAATTTGGGCACTGGTCCCTTTGCAGTTTTTCATCGGGAGATCATTTCGGAGATGGGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAGGTAGGAACAAGTATCTCTCCACACACTGCAGAACCCTCTGTATTCTGAAAGCCTCTTCCTCCTTCCCTCCCTCCCTTTCTTCCTTCCTTCTCTTTCTTTTCTTTTCCTTTTCTTTCCTTTCTTCTTCCCCCCCAACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAATTCTGCCTCCCAGGCTCAAGCGATTCTCCTGCCTCCACCCCTCTAGTAGCTGGGATTACAGGTATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTCAGCCTTCTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTTAAGTGATTATCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGATTACAGGTGTGAGCCACCGTTGCCCGGCCCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGCCTGGATTACTGGATTACAGTGGTGCGATCCTGGCTCACTGCAGTTTCCTCCTCCTAGGTTCAAGCAATTCTGCCACCTCAGCCTTCTGAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAAATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAAACGTGAGCCACCGTGCCTGGCCCCTTTGTTTCTTTTTTTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGTTCTCAAGTGATCCTCTTGCCTTACTGAAAGCCCCCTTCTTTCCCTAAGCCACAATTTCCCAGTCTGTAAAGTGGGGCTGTTGTCCCACCCTCTGAAAGTGGCTGTGGAGATGAAATGAATAAACCTCAGCTAGGGCCAGCTTGGTGCCTGCCTCCTTGTGTGTCCTTATTCAGCCCTGTCTCTTGGGTCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTTTCCCCTCCTACTACCACCAGGATATGGCTGTGCTGGGGTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCGATGAGTGTCCAGTCCTCCCTCGTCATGCACCCTATCTATGCCTATGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAAGTCCACCAGGTTCCTGCTGGCCATTTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGA 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AAAAAGACAAAACAGGCGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGGTGAAACCCGTCTCTATTAAATATAAGAAAAAAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGTAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCTACTGCACTCCAGCCTGGGCAACAGAGTGAGAATCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGCATGATGGCATGCTTCAGTGGTCCCAGCTACTTGGAGGCTGAGGTGGGAGGATCGCCCAGGAGGTGGAAGCTGCAGTGAGCTATGATCGCGCCACTGCACTCCAGCCTGAGCGACAGAACGAGACCCTGTCTAAAAAGAAAAAACAAAAACAAAACAAAACAACCACATAGACTCACAGAATCACACAAGTTCACACACACACACACATACACAGACACAGACACACACACACACACACACACACACACACAGAGTCACAAGTATCTACATGTGCTTCCTGGGACAGACTGGCAGAAAGGTTTGCTAAGATCGCCCACTTGGAGCTCGTCTTCCCCACAACCAGCACCCAATTAGAGAACTCGAGTCTGGCCTCCTGGGTTCAGGAGGACGCCTAGTGCTCGCGCCAGAATTTCTTTGTTTAATTCTTGACTCCCTCCGCACACACCCCCTGCAACTGACCAACCAGGAGTGGGCCGAGCCCTTTCCTACGGCCAATAAGAGGAGAAACCCAGCTGGCCAATCGGTTTCCCGCACTCGTCTTCCGCCCCTACCCCGTCCGCTTCTTAAAGGGGCTAGCCTATCTCTGTCTGGGCCCCCCGATTTCCACAGGCAAGGCTACCTTAGCCCTTTTAAAAGGCAGAGCTGCGGAGGGGGCCGGATTCTAGGAGGAACCAATGAAAAGCCTCACTCGGCCTCCGCTCCTCCCACTTCTTGCTGAGGTCAAAGGCCTGCGTCAGTTGCACTGTAGCCTCGGCAGTGAACCGGGAGGTACTACCAGGTAAGGAAGGTGCGGTAGCCCCAGCCGTGGGTGAGAGGAGCTCCGCTCTGACACCCCCGCTCCTGTAGGTCGCCGTCGTTGCTCCGCTCGCTCTGAGAGAGCATGGCCCTGAGAGGCGTCTCCGTGCGGCTGCTGAGCCGCGGACCCGGCCTGCACGTCCTTCGCACGTGGGTCTCGTCGGCGGCGCAGACCGGTCAGTGTGGGGTCGGGAGTGTGGAGGGAAGGAGGGAGGAACTGGGGGTTTAGGGACTTTCCGGGGTGACTTTCCCGTTCTGTGCTTGCAGAGAAAGGCGGGAGAACACAGAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCTGTTGGCCAATCGCAACGAAGGTGGGCGGGCTGGTGGGTGCCCTGAGACTGCTCCTCCGCCTGGAGCCATAGCCACCCCACCTCAAGGCCCCTCTGTCCTTGGGGCTGGGGCTTCCTGTGGCCTAGGCCTGGGCCTGAATTTGGGCACTGGTCCCTTTGCAGTTTTTCATCGGGAGATCATTTCGGAGATAGGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAGGTAGGAACAAGTATCTCTCCACACACTGCAGAACCCTCTGTATTCTGAAAGCCTCTTCCTCCTTCCCTCCCTCCCTTTCTTCCTTCCTTCTCTTTCTTTTCTTTTCCTTTTCTTTCCTTTCTTCTTCCCCCCCAACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAATTCTGCCTCCCAGGCTCAAGCGATTCTCCTGCCTCCACCCCTCTAGTAGCTGGGATTACAGGTATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTCAGCCTTCTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTTAAGTGATTATCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGATTACAGGTGTGAGCCACCGTTGCCCGGCCCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGCCTGGATTACTGGATTACAGTGGTGCGATCCTGGCTCACTGCAGTTTCCTCCTCCTAGGTTCAAGCAATTCTGCCACCTCAGCCTTCTGAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAAATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAAACGTGAGCCACCGTGCCTGGCCCCTTTGTTTCTTTTTTTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGTTCTCAAGTGATCCTCTTGCCTTACTGAAAGCCCCCTTCTTTCCCTAAGCCACAATTTCCCAGTCTGTAAAGTGGGGCTGTTGTCCCACCCTCTGAAAGTGGCTGTGGAGATGAAATGAATAAACCTCAGCTAGGGCCAGCTTGGTGCCTGCCTCCTTGTGTGTCCTTATTCAGCCCTGTCTCTTGGGTCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTTTCCCCTCCTACTACCACCAGGATATGGCTGTGCTGGGGTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCGATGAGTGTCCAGTCCTCCCTCGTCATGCACCCTATCTATGCCTATGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAAGTCCACCAGGTTCCTGCTGGCCATTTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGA 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Task1_train_26587 | A genomic change on Chromosome 19 affects GCDH (glutaryl-CoA dehydrogenase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Glutaric aciduria, type 1 | TTTAGGGACTTTCCGGGGTGACTTTCCCGTTCTGTGCTTGCAGAGAAAGGCGGGAGAACACAGAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCTGTTGGCCAATCGCAACGAAGGTGGGCGGGCTGGTGGGTGCCCTGAGACTGCTCCTCCGCCTGGAGCCATAGCCACCCCACCTCAAGGCCCCTCTGTCCTTGGGGCTGGGGCTTCCTGTGGCCTAGGCCTGGGCCTGAATTTGGGCACTGGTCCCTTTGCAGTTTTTCATCGGGAGATCATTTCGGAGATGGGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAGGTAGGAACAAGTATCTCTCCACACACTGCAGAACCCTCTGTATTCTGAAAGCCTCTTCCTCCTTCCCTCCCTCCCTTTCTTCCTTCCTTCTCTTTCTTTTCTTTTCCTTTTCTTTCCTTTCTTCTTCCCCCCCAACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAATTCTGCCTCCCAGGCTCAAGCGATTCTCCTGCCTCCACCCCTCTAGTAGCTGGGATTACAGGTATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTCAGCCTTCTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTTAAGTGATTATCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGATTACAGGTGTGAGCCACCGTTGCCCGGCCCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGCCTGGATTACTGGATTACAGTGGTGCGATCCTGGCTCACTGCAGTTTCCTCCTCCTAGGTTCAAGCAATTCTGCCACCTCAGCCTTCTGAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAAATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAAACGTGAGCCACCGTGCCTGGCCCCTTTGTTTCTTTTTTTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGTTCTCAAGTGATCCTCTTGCCTTACTGAAAGCCCCCTTCTTTCCCTAAGCCACAATTTCCCAGTCTGTAAAGTGGGGCTGTTGTCCCACCCTCTGAAAGTGGCTGTGGAGATGAAATGAATAAACCTCAGCTAGGGCCAGCTTGGTGCCTGCCTCCTTGTGTGTCCTTATTCAGCCCTGTCTCTTGGGTCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTTTCCCCTCCTACTACCACCAGGATATGGCTGTGCTGGGGTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCGATGAGTGTCCAGTCCTCCCTCGTCATGCACCCTATCTATGCCTATGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAAGTCCACCAGGTTCCTGCTGGCCATTTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGGACCAAAGCACCCAAGATTCAGCGCCTTGTCACTCCACATGTCCTGCAGCACAAACAGCGGCGTATTGCTCTGAAGCAGCCGCATATTAAGAAAAATAAAGAAGAGGCTGCAGAATATGCTAAACTTTTGGCCAAGAGAATGAAGGAGGCTAAGAAGCACCAGGGACAAATCGTGAAGAGACGCAGACTGTCCTCTCTGCGAGCTTCCACTTCTAAGTCTGAATCCAGTCAGAAATAAGATTTTTTGAGTAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCAGGGCCAGATCTAACTTAGTTATGAGGTCTGACTCAGGGGCGAGGGTAATTTTTTTTTTCTTTTTTTGAGACAAAGTCCCGCTCCGTCCCCCAGGCTGAAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTGCGGTTCCCCAGTTCAAGCAATTCCTGTGCCTCGGCCTCCCAATTAGCTGGGATTGCAGGTGCTTGCTACCCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAAGTGATCCATCTGCCTTGGCCTCCCAAAGTGCTGAGATTACATG 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TTTAGGGACTTTCCGGGGTGACTTTCCCGTTCTGTGCTTGCAGAGAAAGGCGGGAGAACACAGAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCTGTTGGCCAATCGCAACGAAGGTGGGCGGGCTGGTGGGTGCCCTGAGACTGCTCCTCCGCCTGGAGCCATAGCCACCCCACCTCAAGGCCCCTCTGTCCTTGGGGCTGGGGCTTCCTGTGGCCTAGGCCTGGGCCTGAATTTGGGCACTGGTCCCTTTGCAGTTTTTCATCGGGAGATCATTTCGGAGATGGGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAGGTAGGAACAAGTATCTCTCCACACACTGCAGAACCCTCTGTATTCTGAAAGCCTCTTCCTCCTTCCCTCCCTCCCTTTCTTCCTTCCTTCTCTTTCTTTTCTTTTCCTTTTCTTTCCTTTCTTCTTCCCCCCCAACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAATTCTGCCTCCCAGGCTCAAGCGATTCTCCTGCCTCCACCCCTCTAGTAGCTGGGATTACAGGTATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTCAGCCTTCTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTTAAGTGATTATCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGATTACAGGTGTGAGCCACCGTTGCCCGGCCCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGCCTGGATTACTGGATTACAGTGGTGCGATCCTGGCTCACTGCAGTTTCCTCCTCCTAGGTTCAAGCAATTCTGCCACCTCAGCCTTCTGAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAAATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAAACGTGAGCCACCGTGCCTGGCCCCTTTGTTTCTTTTTTTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGTTCTCAAGTGATCCTCTTGCCTTACTGAAAGCCCCCTTCTTTCCCTAAGCCACAATTTCCCAGTCTGTAAAGTGGGGCTGTTGTCCCACCCTCTGAAAGTGGCTGTGGAGATGAAATGAATAAACCTCAGCTAGGGCCAGCTTGGTGCCTGCCTCCTTGTGTGTCCTTATTCAGCCCTGTCTCTTGGGTCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTTTCCCCTCCTACTACCACCAGGATATGGCTATGCTGGGGTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCGATGAGTGTCCAGTCCTCCCTCGTCATGCACCCTATCTATGCCTATGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAAGTCCACCAGGTTCCTGCTGGCCATTTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGGACCAAAGCACCCAAGATTCAGCGCCTTGTCACTCCACATGTCCTGCAGCACAAACAGCGGCGTATTGCTCTGAAGCAGCCGCATATTAAGAAAAATAAAGAAGAGGCTGCAGAATATGCTAAACTTTTGGCCAAGAGAATGAAGGAGGCTAAGAAGCACCAGGGACAAATCGTGAAGAGACGCAGACTGTCCTCTCTGCGAGCTTCCACTTCTAAGTCTGAATCCAGTCAGAAATAAGATTTTTTGAGTAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCAGGGCCAGATCTAACTTAGTTATGAGGTCTGACTCAGGGGCGAGGGTAATTTTTTTTTTCTTTTTTTGAGACAAAGTCCCGCTCCGTCCCCCAGGCTGAAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTGCGGTTCCCCAGTTCAAGCAATTCCTGTGCCTCGGCCTCCCAATTAGCTGGGATTGCAGGTGCTTGCTACCCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAAGTGATCCATCTGCCTTGGCCTCCCAAAGTGCTGAGATTACATG 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Task1_train_26588 | Located on Chromosome 19, this mutation impacts GCDH (glutaryl-CoA dehydrogenase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not specified | GAGAAAGGCGGGAGAACACAGAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCTGTTGGCCAATCGCAACGAAGGTGGGCGGGCTGGTGGGTGCCCTGAGACTGCTCCTCCGCCTGGAGCCATAGCCACCCCACCTCAAGGCCCCTCTGTCCTTGGGGCTGGGGCTTCCTGTGGCCTAGGCCTGGGCCTGAATTTGGGCACTGGTCCCTTTGCAGTTTTTCATCGGGAGATCATTTCGGAGATGGGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAGGTAGGAACAAGTATCTCTCCACACACTGCAGAACCCTCTGTATTCTGAAAGCCTCTTCCTCCTTCCCTCCCTCCCTTTCTTCCTTCCTTCTCTTTCTTTTCTTTTCCTTTTCTTTCCTTTCTTCTTCCCCCCCAACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAATTCTGCCTCCCAGGCTCAAGCGATTCTCCTGCCTCCACCCCTCTAGTAGCTGGGATTACAGGTATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTCAGCCTTCTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTTAAGTGATTATCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGATTACAGGTGTGAGCCACCGTTGCCCGGCCCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGCCTGGATTACTGGATTACAGTGGTGCGATCCTGGCTCACTGCAGTTTCCTCCTCCTAGGTTCAAGCAATTCTGCCACCTCAGCCTTCTGAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAAATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAAACGTGAGCCACCGTGCCTGGCCCCTTTGTTTCTTTTTTTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGTTCTCAAGTGATCCTCTTGCCTTACTGAAAGCCCCCTTCTTTCCCTAAGCCACAATTTCCCAGTCTGTAAAGTGGGGCTGTTGTCCCACCCTCTGAAAGTGGCTGTGGAGATGAAATGAATAAACCTCAGCTAGGGCCAGCTTGGTGCCTGCCTCCTTGTGTGTCCTTATTCAGCCCTGTCTCTTGGGTCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTTTCCCCTCCTACTACCACCAGGATATGGCTGTGCTGGGGTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCGATGAGTGTCCAGTCCTCCCTCGTCATGCACCCTATCTATGCCTATGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAAGTCCACCAGGTTCCTGCTGGCCATTTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGGACCAAAGCACCCAAGATTCAGCGCCTTGTCACTCCACATGTCCTGCAGCACAAACAGCGGCGTATTGCTCTGAAGCAGCCGCATATTAAGAAAAATAAAGAAGAGGCTGCAGAATATGCTAAACTTTTGGCCAAGAGAATGAAGGAGGCTAAGAAGCACCAGGGACAAATCGTGAAGAGACGCAGACTGTCCTCTCTGCGAGCTTCCACTTCTAAGTCTGAATCCAGTCAGAAATAAGATTTTTTGAGTAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCAGGGCCAGATCTAACTTAGTTATGAGGTCTGACTCAGGGGCGAGGGTAATTTTTTTTTTCTTTTTTTGAGACAAAGTCCCGCTCCGTCCCCCAGGCTGAAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTGCGGTTCCCCAGTTCAAGCAATTCCTGTGCCTCGGCCTCCCAATTAGCTGGGATTGCAGGTGCTTGCTACCCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAAGTGATCCATCTGCCTTGGCCTCCCAAAGTGCTGAGATTACATGTGTGAGCCACCTCGACTGGCCTAATTTTTTGTATTTTTAGTA 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GAGAAAGGCGGGAGAACACAGAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCTGTTGGCCAATCGCAACGAAGGTGGGCGGGCTGGTGGGTGCCCTGAGACTGCTCCTCCGCCTGGAGCCATAGCCACCCCACCTCAAGGCCCCTCTGTCCTTGGGGCTGGGGCTTCCTGTGGCCTAGGCCTGGGCCTGAATTTGGGCACTGGTCCCTTTGCAGTTTTTCATCGGGAGATCATTTCGGAGATGGGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAGGTAGGAACAAGTATCTCTCCACACACTGCAGAACCCTCTGTATTCTGAAAGCCTCTTCCTCCTTCCCTCCCTCCCTTTCTTCCTTCCTTCTCTTTCTTTTCTTTTCCTTTTCTTTCCTTTCTTCTTCCCCCCCAACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAATTCTGCCTCCCAGGCTCAAGCGATTCTCCTGCCTCCACCCCTCTAGTAGCTGGGATTACAGGTATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTCAGCCTTCTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTTAAGTGATTATCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGATTACAGGTGTGAGCCACCGTTGCCCGGCCCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGCCTGGATTACTGGATTACAGTGGTGCGATCCTGGCTCACTGCAGTTTCCTCCTCCTAGGTTCAAGCAATTCTGCCACCTCAGCCTTCTGAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAAATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAAACGTGAGCCACCGTGCCTGGCCCCTTTGTTTCTTTTTTTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGTTCTCAAGTGATCCTCTTGCCTTACTGAAAGCCCCCTTCTTTCCCTAAGCCACAATTTCCCAGTCTGTAAAGTGGGGCTGTTGTCCCACCCTCTGAAAGTGGCTGTGGAGATGAAATGAATAAACCTCAGCTAGGGCCAGCTTGGTGCCTGCCTCCTTGTGTGTCCTTATTCAGCCCTGTCTCTTGGGTCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTTTCCCCTCCTACTACCACCAGGATATGGCTGTGCTGGGGTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGCGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCGATGAGTGTCCAGTCCTCCCTCGTCATGCACCCTATCTATGCCTATGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAAGTCCACCAGGTTCCTGCTGGCCATTTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGGACCAAAGCACCCAAGATTCAGCGCCTTGTCACTCCACATGTCCTGCAGCACAAACAGCGGCGTATTGCTCTGAAGCAGCCGCATATTAAGAAAAATAAAGAAGAGGCTGCAGAATATGCTAAACTTTTGGCCAAGAGAATGAAGGAGGCTAAGAAGCACCAGGGACAAATCGTGAAGAGACGCAGACTGTCCTCTCTGCGAGCTTCCACTTCTAAGTCTGAATCCAGTCAGAAATAAGATTTTTTGAGTAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCAGGGCCAGATCTAACTTAGTTATGAGGTCTGACTCAGGGGCGAGGGTAATTTTTTTTTTCTTTTTTTGAGACAAAGTCCCGCTCCGTCCCCCAGGCTGAAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTGCGGTTCCCCAGTTCAAGCAATTCCTGTGCCTCGGCCTCCCAATTAGCTGGGATTGCAGGTGCTTGCTACCCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAAGTGATCCATCTGCCTTGGCCTCCCAAAGTGCTGAGATTACATGTGTGAGCCACCTCGACTGGCCTAATTTTTTGTATTTTTAGTA 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Task1_train_26589 | A genomic change on Chromosome 19 affects GCDH (glutaryl-CoA dehydrogenase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Glutaric aciduria, type 1 | GAGAAAGGCGGGAGAACACAGAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCTGTTGGCCAATCGCAACGAAGGTGGGCGGGCTGGTGGGTGCCCTGAGACTGCTCCTCCGCCTGGAGCCATAGCCACCCCACCTCAAGGCCCCTCTGTCCTTGGGGCTGGGGCTTCCTGTGGCCTAGGCCTGGGCCTGAATTTGGGCACTGGTCCCTTTGCAGTTTTTCATCGGGAGATCATTTCGGAGATGGGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAGGTAGGAACAAGTATCTCTCCACACACTGCAGAACCCTCTGTATTCTGAAAGCCTCTTCCTCCTTCCCTCCCTCCCTTTCTTCCTTCCTTCTCTTTCTTTTCTTTTCCTTTTCTTTCCTTTCTTCTTCCCCCCCAACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAATTCTGCCTCCCAGGCTCAAGCGATTCTCCTGCCTCCACCCCTCTAGTAGCTGGGATTACAGGTATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTCAGCCTTCTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTTAAGTGATTATCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGATTACAGGTGTGAGCCACCGTTGCCCGGCCCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGCCTGGATTACTGGATTACAGTGGTGCGATCCTGGCTCACTGCAGTTTCCTCCTCCTAGGTTCAAGCAATTCTGCCACCTCAGCCTTCTGAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAAATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAAACGTGAGCCACCGTGCCTGGCCCCTTTGTTTCTTTTTTTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGTTCTCAAGTGATCCTCTTGCCTTACTGAAAGCCCCCTTCTTTCCCTAAGCCACAATTTCCCAGTCTGTAAAGTGGGGCTGTTGTCCCACCCTCTGAAAGTGGCTGTGGAGATGAAATGAATAAACCTCAGCTAGGGCCAGCTTGGTGCCTGCCTCCTTGTGTGTCCTTATTCAGCCCTGTCTCTTGGGTCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTTTCCCCTCCTACTACCACCAGGATATGGCTGTGCTGGGGTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCGATGAGTGTCCAGTCCTCCCTCGTCATGCACCCTATCTATGCCTATGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAAGTCCACCAGGTTCCTGCTGGCCATTTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGGACCAAAGCACCCAAGATTCAGCGCCTTGTCACTCCACATGTCCTGCAGCACAAACAGCGGCGTATTGCTCTGAAGCAGCCGCATATTAAGAAAAATAAAGAAGAGGCTGCAGAATATGCTAAACTTTTGGCCAAGAGAATGAAGGAGGCTAAGAAGCACCAGGGACAAATCGTGAAGAGACGCAGACTGTCCTCTCTGCGAGCTTCCACTTCTAAGTCTGAATCCAGTCAGAAATAAGATTTTTTGAGTAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCAGGGCCAGATCTAACTTAGTTATGAGGTCTGACTCAGGGGCGAGGGTAATTTTTTTTTTCTTTTTTTGAGACAAAGTCCCGCTCCGTCCCCCAGGCTGAAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTGCGGTTCCCCAGTTCAAGCAATTCCTGTGCCTCGGCCTCCCAATTAGCTGGGATTGCAGGTGCTTGCTACCCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAAGTGATCCATCTGCCTTGGCCTCCCAAAGTGCTGAGATTACATGTGTGAGCCACCTCGACTGGCCTAATTTTTTGTATTTTTAGTA 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GAGAAAGGCGGGAGAACACAGAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCTGTTGGCCAATCGCAACGAAGGTGGGCGGGCTGGTGGGTGCCCTGAGACTGCTCCTCCGCCTGGAGCCATAGCCACCCCACCTCAAGGCCCCTCTGTCCTTGGGGCTGGGGCTTCCTGTGGCCTAGGCCTGGGCCTGAATTTGGGCACTGGTCCCTTTGCAGTTTTTCATCGGGAGATCATTTCGGAGATGGGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAGGTAGGAACAAGTATCTCTCCACACACTGCAGAACCCTCTGTATTCTGAAAGCCTCTTCCTCCTTCCCTCCCTCCCTTTCTTCCTTCCTTCTCTTTCTTTTCTTTTCCTTTTCTTTCCTTTCTTCTTCCCCCCCAACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAATTCTGCCTCCCAGGCTCAAGCGATTCTCCTGCCTCCACCCCTCTAGTAGCTGGGATTACAGGTATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTCAGCCTTCTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTTAAGTGATTATCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGATTACAGGTGTGAGCCACCGTTGCCCGGCCCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGCCTGGATTACTGGATTACAGTGGTGCGATCCTGGCTCACTGCAGTTTCCTCCTCCTAGGTTCAAGCAATTCTGCCACCTCAGCCTTCTGAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAAATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAAACGTGAGCCACCGTGCCTGGCCCCTTTGTTTCTTTTTTTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGTTCTCAAGTGATCCTCTTGCCTTACTGAAAGCCCCCTTCTTTCCCTAAGCCACAATTTCCCAGTCTGTAAAGTGGGGCTGTTGTCCCACCCTCTGAAAGTGGCTGTGGAGATGAAATGAATAAACCTCAGCTAGGGCCAGCTTGGTGCCTGCCTCCTTGTGTGTCCTTATTCAGCCCTGTCTCTTGGGTCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTTTCCCCTCCTACTACCACCAGGATATGGCTGTGCTGGGGTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGCGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCGATGAGTGTCCAGTCCTCCCTCGTCATGCACCCTATCTATGCCTATGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAAGTCCACCAGGTTCCTGCTGGCCATTTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGGACCAAAGCACCCAAGATTCAGCGCCTTGTCACTCCACATGTCCTGCAGCACAAACAGCGGCGTATTGCTCTGAAGCAGCCGCATATTAAGAAAAATAAAGAAGAGGCTGCAGAATATGCTAAACTTTTGGCCAAGAGAATGAAGGAGGCTAAGAAGCACCAGGGACAAATCGTGAAGAGACGCAGACTGTCCTCTCTGCGAGCTTCCACTTCTAAGTCTGAATCCAGTCAGAAATAAGATTTTTTGAGTAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCAGGGCCAGATCTAACTTAGTTATGAGGTCTGACTCAGGGGCGAGGGTAATTTTTTTTTTCTTTTTTTGAGACAAAGTCCCGCTCCGTCCCCCAGGCTGAAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTGCGGTTCCCCAGTTCAAGCAATTCCTGTGCCTCGGCCTCCCAATTAGCTGGGATTGCAGGTGCTTGCTACCCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAAGTGATCCATCTGCCTTGGCCTCCCAAAGTGCTGAGATTACATGTGTGAGCCACCTCGACTGGCCTAATTTTTTGTATTTTTAGTA 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Task1_train_26590 | This alteration occurs within gene GCDH (glutaryl-CoA dehydrogenase) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; Glutaric aciduria, type 1 | AAAGGCGGGAGAACACAGAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCTGTTGGCCAATCGCAACGAAGGTGGGCGGGCTGGTGGGTGCCCTGAGACTGCTCCTCCGCCTGGAGCCATAGCCACCCCACCTCAAGGCCCCTCTGTCCTTGGGGCTGGGGCTTCCTGTGGCCTAGGCCTGGGCCTGAATTTGGGCACTGGTCCCTTTGCAGTTTTTCATCGGGAGATCATTTCGGAGATGGGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAGGTAGGAACAAGTATCTCTCCACACACTGCAGAACCCTCTGTATTCTGAAAGCCTCTTCCTCCTTCCCTCCCTCCCTTTCTTCCTTCCTTCTCTTTCTTTTCTTTTCCTTTTCTTTCCTTTCTTCTTCCCCCCCAACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAATTCTGCCTCCCAGGCTCAAGCGATTCTCCTGCCTCCACCCCTCTAGTAGCTGGGATTACAGGTATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTCAGCCTTCTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTTAAGTGATTATCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGATTACAGGTGTGAGCCACCGTTGCCCGGCCCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGCCTGGATTACTGGATTACAGTGGTGCGATCCTGGCTCACTGCAGTTTCCTCCTCCTAGGTTCAAGCAATTCTGCCACCTCAGCCTTCTGAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAAATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAAACGTGAGCCACCGTGCCTGGCCCCTTTGTTTCTTTTTTTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGTTCTCAAGTGATCCTCTTGCCTTACTGAAAGCCCCCTTCTTTCCCTAAGCCACAATTTCCCAGTCTGTAAAGTGGGGCTGTTGTCCCACCCTCTGAAAGTGGCTGTGGAGATGAAATGAATAAACCTCAGCTAGGGCCAGCTTGGTGCCTGCCTCCTTGTGTGTCCTTATTCAGCCCTGTCTCTTGGGTCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTTTCCCCTCCTACTACCACCAGGATATGGCTGTGCTGGGGTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCGATGAGTGTCCAGTCCTCCCTCGTCATGCACCCTATCTATGCCTATGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAAGTCCACCAGGTTCCTGCTGGCCATTTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGGACCAAAGCACCCAAGATTCAGCGCCTTGTCACTCCACATGTCCTGCAGCACAAACAGCGGCGTATTGCTCTGAAGCAGCCGCATATTAAGAAAAATAAAGAAGAGGCTGCAGAATATGCTAAACTTTTGGCCAAGAGAATGAAGGAGGCTAAGAAGCACCAGGGACAAATCGTGAAGAGACGCAGACTGTCCTCTCTGCGAGCTTCCACTTCTAAGTCTGAATCCAGTCAGAAATAAGATTTTTTGAGTAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCAGGGCCAGATCTAACTTAGTTATGAGGTCTGACTCAGGGGCGAGGGTAATTTTTTTTTTCTTTTTTTGAGACAAAGTCCCGCTCCGTCCCCCAGGCTGAAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTGCGGTTCCCCAGTTCAAGCAATTCCTGTGCCTCGGCCTCCCAATTAGCTGGGATTGCAGGTGCTTGCTACCCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAAGTGATCCATCTGCCTTGGCCTCCCAAAGTGCTGAGATTACATGTGTGAGCCACCTCGACTGGCCTAATTTTTTGTATTTTTAGTAGAG 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AAAGGCGGGAGAACACAGAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCTGTTGGCCAATCGCAACGAAGGTGGGCGGGCTGGTGGGTGCCCTGAGACTGCTCCTCCGCCTGGAGCCATAGCCACCCCACCTCAAGGCCCCTCTGTCCTTGGGGCTGGGGCTTCCTGTGGCCTAGGCCTGGGCCTGAATTTGGGCACTGGTCCCTTTGCAGTTTTTCATCGGGAGATCATTTCGGAGATGGGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAGGTAGGAACAAGTATCTCTCCACACACTGCAGAACCCTCTGTATTCTGAAAGCCTCTTCCTCCTTCCCTCCCTCCCTTTCTTCCTTCCTTCTCTTTCTTTTCTTTTCCTTTTCTTTCCTTTCTTCTTCCCCCCCAACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAATTCTGCCTCCCAGGCTCAAGCGATTCTCCTGCCTCCACCCCTCTAGTAGCTGGGATTACAGGTATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTCAGCCTTCTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTTAAGTGATTATCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGATTACAGGTGTGAGCCACCGTTGCCCGGCCCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGCCTGGATTACTGGATTACAGTGGTGCGATCCTGGCTCACTGCAGTTTCCTCCTCCTAGGTTCAAGCAATTCTGCCACCTCAGCCTTCTGAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAAATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAAACGTGAGCCACCGTGCCTGGCCCCTTTGTTTCTTTTTTTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGTTCTCAAGTGATCCTCTTGCCTTACTGAAAGCCCCCTTCTTTCCCTAAGCCACAATTTCCCAGTCTGTAAAGTGGGGCTGTTGTCCCACCCTCTGAAAGTGGCTGTGGAGATGAAATGAATAAACCTCAGCTAGGGCCAGCTTGGTGCCTGCCTCCTTGTGTGTCCTTATTCAGCCCTGTCTCTTGGGTCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTTTCCCCTCCTACTACCACCAGGATATGGCTGTGCTGGGGTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGAGCCGGAGCGGGTGGACAGTGGCTACAGGTCGGCGATGAGTGTCCAGTCCTCCCTCGTCATGCACCCTATCTATGCCTATGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAAGTCCACCAGGTTCCTGCTGGCCATTTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGGACCAAAGCACCCAAGATTCAGCGCCTTGTCACTCCACATGTCCTGCAGCACAAACAGCGGCGTATTGCTCTGAAGCAGCCGCATATTAAGAAAAATAAAGAAGAGGCTGCAGAATATGCTAAACTTTTGGCCAAGAGAATGAAGGAGGCTAAGAAGCACCAGGGACAAATCGTGAAGAGACGCAGACTGTCCTCTCTGCGAGCTTCCACTTCTAAGTCTGAATCCAGTCAGAAATAAGATTTTTTGAGTAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCAGGGCCAGATCTAACTTAGTTATGAGGTCTGACTCAGGGGCGAGGGTAATTTTTTTTTTCTTTTTTTGAGACAAAGTCCCGCTCCGTCCCCCAGGCTGAAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTGCGGTTCCCCAGTTCAAGCAATTCCTGTGCCTCGGCCTCCCAATTAGCTGGGATTGCAGGTGCTTGCTACCCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAAGTGATCCATCTGCCTTGGCCTCCCAAAGTGCTGAGATTACATGTGTGAGCCACCTCGACTGGCCTAATTTTTTGTATTTTTAGTAGAG 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Task1_train_26591 | A mutation found in GCDH (glutaryl-CoA dehydrogenase) on Chromosome 19 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Glutaric aciduria, type 1 | GAGAACACAGAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCTGTTGGCCAATCGCAACGAAGGTGGGCGGGCTGGTGGGTGCCCTGAGACTGCTCCTCCGCCTGGAGCCATAGCCACCCCACCTCAAGGCCCCTCTGTCCTTGGGGCTGGGGCTTCCTGTGGCCTAGGCCTGGGCCTGAATTTGGGCACTGGTCCCTTTGCAGTTTTTCATCGGGAGATCATTTCGGAGATGGGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAGGTAGGAACAAGTATCTCTCCACACACTGCAGAACCCTCTGTATTCTGAAAGCCTCTTCCTCCTTCCCTCCCTCCCTTTCTTCCTTCCTTCTCTTTCTTTTCTTTTCCTTTTCTTTCCTTTCTTCTTCCCCCCCAACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAATTCTGCCTCCCAGGCTCAAGCGATTCTCCTGCCTCCACCCCTCTAGTAGCTGGGATTACAGGTATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTCAGCCTTCTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTTAAGTGATTATCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGATTACAGGTGTGAGCCACCGTTGCCCGGCCCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGCCTGGATTACTGGATTACAGTGGTGCGATCCTGGCTCACTGCAGTTTCCTCCTCCTAGGTTCAAGCAATTCTGCCACCTCAGCCTTCTGAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAAATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAAACGTGAGCCACCGTGCCTGGCCCCTTTGTTTCTTTTTTTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGTTCTCAAGTGATCCTCTTGCCTTACTGAAAGCCCCCTTCTTTCCCTAAGCCACAATTTCCCAGTCTGTAAAGTGGGGCTGTTGTCCCACCCTCTGAAAGTGGCTGTGGAGATGAAATGAATAAACCTCAGCTAGGGCCAGCTTGGTGCCTGCCTCCTTGTGTGTCCTTATTCAGCCCTGTCTCTTGGGTCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTTTCCCCTCCTACTACCACCAGGATATGGCTGTGCTGGGGTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCGATGAGTGTCCAGTCCTCCCTCGTCATGCACCCTATCTATGCCTATGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAAGTCCACCAGGTTCCTGCTGGCCATTTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGGACCAAAGCACCCAAGATTCAGCGCCTTGTCACTCCACATGTCCTGCAGCACAAACAGCGGCGTATTGCTCTGAAGCAGCCGCATATTAAGAAAAATAAAGAAGAGGCTGCAGAATATGCTAAACTTTTGGCCAAGAGAATGAAGGAGGCTAAGAAGCACCAGGGACAAATCGTGAAGAGACGCAGACTGTCCTCTCTGCGAGCTTCCACTTCTAAGTCTGAATCCAGTCAGAAATAAGATTTTTTGAGTAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCAGGGCCAGATCTAACTTAGTTATGAGGTCTGACTCAGGGGCGAGGGTAATTTTTTTTTTCTTTTTTTGAGACAAAGTCCCGCTCCGTCCCCCAGGCTGAAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTGCGGTTCCCCAGTTCAAGCAATTCCTGTGCCTCGGCCTCCCAATTAGCTGGGATTGCAGGTGCTTGCTACCCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAAGTGATCCATCTGCCTTGGCCTCCCAAAGTGCTGAGATTACATGTGTGAGCCACCTCGACTGGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTT 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GAGAACACAGAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCTGTTGGCCAATCGCAACGAAGGTGGGCGGGCTGGTGGGTGCCCTGAGACTGCTCCTCCGCCTGGAGCCATAGCCACCCCACCTCAAGGCCCCTCTGTCCTTGGGGCTGGGGCTTCCTGTGGCCTAGGCCTGGGCCTGAATTTGGGCACTGGTCCCTTTGCAGTTTTTCATCGGGAGATCATTTCGGAGATGGGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAGGTAGGAACAAGTATCTCTCCACACACTGCAGAACCCTCTGTATTCTGAAAGCCTCTTCCTCCTTCCCTCCCTCCCTTTCTTCCTTCCTTCTCTTTCTTTTCTTTTCCTTTTCTTTCCTTTCTTCTTCCCCCCCAACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAATTCTGCCTCCCAGGCTCAAGCGATTCTCCTGCCTCCACCCCTCTAGTAGCTGGGATTACAGGTATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTCAGCCTTCTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTTAAGTGATTATCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGATTACAGGTGTGAGCCACCGTTGCCCGGCCCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGCCTGGATTACTGGATTACAGTGGTGCGATCCTGGCTCACTGCAGTTTCCTCCTCCTAGGTTCAAGCAATTCTGCCACCTCAGCCTTCTGAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAAATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAAACGTGAGCCACCGTGCCTGGCCCCTTTGTTTCTTTTTTTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGTTCTCAAGTGATCCTCTTGCCTTACTGAAAGCCCCCTTCTTTCCCTAAGCCACAATTTCCCAGTCTGTAAAGTGGGGCTGTTGTCCCACCCTCTGAAAGTGGCTGTGGAGATGAAATGAATAAACCTCAGCTAGGGCCAGCTTGGTGCCTGCCTCCTTGTGTGTCCTTATTCAGCCCTGTCTCTTGGGTCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTTTCCCCTCCTACTACCACCAGGATATGGCTGTGCTGGGGTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGATGGACAGTGGCTACAGGTCGGCGATGAGTGTCCAGTCCTCCCTCGTCATGCACCCTATCTATGCCTATGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAAGTCCACCAGGTTCCTGCTGGCCATTTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGGACCAAAGCACCCAAGATTCAGCGCCTTGTCACTCCACATGTCCTGCAGCACAAACAGCGGCGTATTGCTCTGAAGCAGCCGCATATTAAGAAAAATAAAGAAGAGGCTGCAGAATATGCTAAACTTTTGGCCAAGAGAATGAAGGAGGCTAAGAAGCACCAGGGACAAATCGTGAAGAGACGCAGACTGTCCTCTCTGCGAGCTTCCACTTCTAAGTCTGAATCCAGTCAGAAATAAGATTTTTTGAGTAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCAGGGCCAGATCTAACTTAGTTATGAGGTCTGACTCAGGGGCGAGGGTAATTTTTTTTTTCTTTTTTTGAGACAAAGTCCCGCTCCGTCCCCCAGGCTGAAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTGCGGTTCCCCAGTTCAAGCAATTCCTGTGCCTCGGCCTCCCAATTAGCTGGGATTGCAGGTGCTTGCTACCCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAAGTGATCCATCTGCCTTGGCCTCCCAAAGTGCTGAGATTACATGTGTGAGCCACCTCGACTGGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTT 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Task1_train_26592 | Given this context: Chromosome 19, gene GCDH (glutaryl-CoA dehydrogenase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not specified | GAGAACACAGAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCTGTTGGCCAATCGCAACGAAGGTGGGCGGGCTGGTGGGTGCCCTGAGACTGCTCCTCCGCCTGGAGCCATAGCCACCCCACCTCAAGGCCCCTCTGTCCTTGGGGCTGGGGCTTCCTGTGGCCTAGGCCTGGGCCTGAATTTGGGCACTGGTCCCTTTGCAGTTTTTCATCGGGAGATCATTTCGGAGATGGGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAGGTAGGAACAAGTATCTCTCCACACACTGCAGAACCCTCTGTATTCTGAAAGCCTCTTCCTCCTTCCCTCCCTCCCTTTCTTCCTTCCTTCTCTTTCTTTTCTTTTCCTTTTCTTTCCTTTCTTCTTCCCCCCCAACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAATTCTGCCTCCCAGGCTCAAGCGATTCTCCTGCCTCCACCCCTCTAGTAGCTGGGATTACAGGTATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTCAGCCTTCTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTTAAGTGATTATCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGATTACAGGTGTGAGCCACCGTTGCCCGGCCCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGCCTGGATTACTGGATTACAGTGGTGCGATCCTGGCTCACTGCAGTTTCCTCCTCCTAGGTTCAAGCAATTCTGCCACCTCAGCCTTCTGAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAAATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAAACGTGAGCCACCGTGCCTGGCCCCTTTGTTTCTTTTTTTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGTTCTCAAGTGATCCTCTTGCCTTACTGAAAGCCCCCTTCTTTCCCTAAGCCACAATTTCCCAGTCTGTAAAGTGGGGCTGTTGTCCCACCCTCTGAAAGTGGCTGTGGAGATGAAATGAATAAACCTCAGCTAGGGCCAGCTTGGTGCCTGCCTCCTTGTGTGTCCTTATTCAGCCCTGTCTCTTGGGTCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTTTCCCCTCCTACTACCACCAGGATATGGCTGTGCTGGGGTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCGATGAGTGTCCAGTCCTCCCTCGTCATGCACCCTATCTATGCCTATGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAAGTCCACCAGGTTCCTGCTGGCCATTTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGGACCAAAGCACCCAAGATTCAGCGCCTTGTCACTCCACATGTCCTGCAGCACAAACAGCGGCGTATTGCTCTGAAGCAGCCGCATATTAAGAAAAATAAAGAAGAGGCTGCAGAATATGCTAAACTTTTGGCCAAGAGAATGAAGGAGGCTAAGAAGCACCAGGGACAAATCGTGAAGAGACGCAGACTGTCCTCTCTGCGAGCTTCCACTTCTAAGTCTGAATCCAGTCAGAAATAAGATTTTTTGAGTAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCAGGGCCAGATCTAACTTAGTTATGAGGTCTGACTCAGGGGCGAGGGTAATTTTTTTTTTCTTTTTTTGAGACAAAGTCCCGCTCCGTCCCCCAGGCTGAAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTGCGGTTCCCCAGTTCAAGCAATTCCTGTGCCTCGGCCTCCCAATTAGCTGGGATTGCAGGTGCTTGCTACCCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAAGTGATCCATCTGCCTTGGCCTCCCAAAGTGCTGAGATTACATGTGTGAGCCACCTCGACTGGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTT 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GAGAACACAGAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCTGTTGGCCAATCGCAACGAAGGTGGGCGGGCTGGTGGGTGCCCTGAGACTGCTCCTCCGCCTGGAGCCATAGCCACCCCACCTCAAGGCCCCTCTGTCCTTGGGGCTGGGGCTTCCTGTGGCCTAGGCCTGGGCCTGAATTTGGGCACTGGTCCCTTTGCAGTTTTTCATCGGGAGATCATTTCGGAGATGGGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAGGTAGGAACAAGTATCTCTCCACACACTGCAGAACCCTCTGTATTCTGAAAGCCTCTTCCTCCTTCCCTCCCTCCCTTTCTTCCTTCCTTCTCTTTCTTTTCTTTTCCTTTTCTTTCCTTTCTTCTTCCCCCCCAACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAATTCTGCCTCCCAGGCTCAAGCGATTCTCCTGCCTCCACCCCTCTAGTAGCTGGGATTACAGGTATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTCAGCCTTCTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTTAAGTGATTATCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGATTACAGGTGTGAGCCACCGTTGCCCGGCCCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGCCTGGATTACTGGATTACAGTGGTGCGATCCTGGCTCACTGCAGTTTCCTCCTCCTAGGTTCAAGCAATTCTGCCACCTCAGCCTTCTGAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAAATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAAACGTGAGCCACCGTGCCTGGCCCCTTTGTTTCTTTTTTTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGTTCTCAAGTGATCCTCTTGCCTTACTGAAAGCCCCCTTCTTTCCCTAAGCCACAATTTCCCAGTCTGTAAAGTGGGGCTGTTGTCCCACCCTCTGAAAGTGGCTGTGGAGATGAAATGAATAAACCTCAGCTAGGGCCAGCTTGGTGCCTGCCTCCTTGTGTGTCCTTATTCAGCCCTGTCTCTTGGGTCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTTTCCCCTCCTACTACCACCAGGATATGGCTGTGCTGGGGTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGATGGACAGTGGCTACAGGTCGGCGATGAGTGTCCAGTCCTCCCTCGTCATGCACCCTATCTATGCCTATGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAAGTCCACCAGGTTCCTGCTGGCCATTTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGGACCAAAGCACCCAAGATTCAGCGCCTTGTCACTCCACATGTCCTGCAGCACAAACAGCGGCGTATTGCTCTGAAGCAGCCGCATATTAAGAAAAATAAAGAAGAGGCTGCAGAATATGCTAAACTTTTGGCCAAGAGAATGAAGGAGGCTAAGAAGCACCAGGGACAAATCGTGAAGAGACGCAGACTGTCCTCTCTGCGAGCTTCCACTTCTAAGTCTGAATCCAGTCAGAAATAAGATTTTTTGAGTAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCAGGGCCAGATCTAACTTAGTTATGAGGTCTGACTCAGGGGCGAGGGTAATTTTTTTTTTCTTTTTTTGAGACAAAGTCCCGCTCCGTCCCCCAGGCTGAAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTGCGGTTCCCCAGTTCAAGCAATTCCTGTGCCTCGGCCTCCCAATTAGCTGGGATTGCAGGTGCTTGCTACCCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAAGTGATCCATCTGCCTTGGCCTCCCAAAGTGCTGAGATTACATGTGTGAGCCACCTCGACTGGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTT 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Task1_train_26593 | A variant found in Chromosome 19 affects GCDH (glutaryl-CoA dehydrogenase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Glutaric aciduria, type 1 | GAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCTGTTGGCCAATCGCAACGAAGGTGGGCGGGCTGGTGGGTGCCCTGAGACTGCTCCTCCGCCTGGAGCCATAGCCACCCCACCTCAAGGCCCCTCTGTCCTTGGGGCTGGGGCTTCCTGTGGCCTAGGCCTGGGCCTGAATTTGGGCACTGGTCCCTTTGCAGTTTTTCATCGGGAGATCATTTCGGAGATGGGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAGGTAGGAACAAGTATCTCTCCACACACTGCAGAACCCTCTGTATTCTGAAAGCCTCTTCCTCCTTCCCTCCCTCCCTTTCTTCCTTCCTTCTCTTTCTTTTCTTTTCCTTTTCTTTCCTTTCTTCTTCCCCCCCAACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAATTCTGCCTCCCAGGCTCAAGCGATTCTCCTGCCTCCACCCCTCTAGTAGCTGGGATTACAGGTATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTCAGCCTTCTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTTAAGTGATTATCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGATTACAGGTGTGAGCCACCGTTGCCCGGCCCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGCCTGGATTACTGGATTACAGTGGTGCGATCCTGGCTCACTGCAGTTTCCTCCTCCTAGGTTCAAGCAATTCTGCCACCTCAGCCTTCTGAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAAATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAAACGTGAGCCACCGTGCCTGGCCCCTTTGTTTCTTTTTTTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGTTCTCAAGTGATCCTCTTGCCTTACTGAAAGCCCCCTTCTTTCCCTAAGCCACAATTTCCCAGTCTGTAAAGTGGGGCTGTTGTCCCACCCTCTGAAAGTGGCTGTGGAGATGAAATGAATAAACCTCAGCTAGGGCCAGCTTGGTGCCTGCCTCCTTGTGTGTCCTTATTCAGCCCTGTCTCTTGGGTCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTTTCCCCTCCTACTACCACCAGGATATGGCTGTGCTGGGGTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCGATGAGTGTCCAGTCCTCCCTCGTCATGCACCCTATCTATGCCTATGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAAGTCCACCAGGTTCCTGCTGGCCATTTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGGACCAAAGCACCCAAGATTCAGCGCCTTGTCACTCCACATGTCCTGCAGCACAAACAGCGGCGTATTGCTCTGAAGCAGCCGCATATTAAGAAAAATAAAGAAGAGGCTGCAGAATATGCTAAACTTTTGGCCAAGAGAATGAAGGAGGCTAAGAAGCACCAGGGACAAATCGTGAAGAGACGCAGACTGTCCTCTCTGCGAGCTTCCACTTCTAAGTCTGAATCCAGTCAGAAATAAGATTTTTTGAGTAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCAGGGCCAGATCTAACTTAGTTATGAGGTCTGACTCAGGGGCGAGGGTAATTTTTTTTTTCTTTTTTTGAGACAAAGTCCCGCTCCGTCCCCCAGGCTGAAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTGCGGTTCCCCAGTTCAAGCAATTCCTGTGCCTCGGCCTCCCAATTAGCTGGGATTGCAGGTGCTTGCTACCCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAAGTGATCCATCTGCCTTGGCCTCCCAAAGTGCTGAGATTACATGTGTGAGCCACCTCGACTGGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATAT 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GAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCTGTTGGCCAATCGCAACGAAGGTGGGCGGGCTGGTGGGTGCCCTGAGACTGCTCCTCCGCCTGGAGCCATAGCCACCCCACCTCAAGGCCCCTCTGTCCTTGGGGCTGGGGCTTCCTGTGGCCTAGGCCTGGGCCTGAATTTGGGCACTGGTCCCTTTGCAGTTTTTCATCGGGAGATCATTTCGGAGATGGGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAGGTAGGAACAAGTATCTCTCCACACACTGCAGAACCCTCTGTATTCTGAAAGCCTCTTCCTCCTTCCCTCCCTCCCTTTCTTCCTTCCTTCTCTTTCTTTTCTTTTCCTTTTCTTTCCTTTCTTCTTCCCCCCCAACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAATTCTGCCTCCCAGGCTCAAGCGATTCTCCTGCCTCCACCCCTCTAGTAGCTGGGATTACAGGTATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTCAGCCTTCTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTTAAGTGATTATCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGATTACAGGTGTGAGCCACCGTTGCCCGGCCCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGCCTGGATTACTGGATTACAGTGGTGCGATCCTGGCTCACTGCAGTTTCCTCCTCCTAGGTTCAAGCAATTCTGCCACCTCAGCCTTCTGAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAAATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAAACGTGAGCCACCGTGCCTGGCCCCTTTGTTTCTTTTTTTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGTTCTCAAGTGATCCTCTTGCCTTACTGAAAGCCCCCTTCTTTCCCTAAGCCACAATTTCCCAGTCTGTAAAGTGGGGCTGTTGTCCCACCCTCTGAAAGTGGCTGTGGAGATGAAATGAATAAACCTCAGCTAGGGCCAGCTTGGTGCCTGCCTCCTTGTGTGTCCTTATTCAGCCCTGTCTCTTGGGTCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTTTCCCCTCCTACTACCACCAGGATATGGCTGTGCTGGGGTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGGTGGACAGTTGCTACAGGTCGGCGATGAGTGTCCAGTCCTCCCTCGTCATGCACCCTATCTATGCCTATGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAAGTCCACCAGGTTCCTGCTGGCCATTTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGGACCAAAGCACCCAAGATTCAGCGCCTTGTCACTCCACATGTCCTGCAGCACAAACAGCGGCGTATTGCTCTGAAGCAGCCGCATATTAAGAAAAATAAAGAAGAGGCTGCAGAATATGCTAAACTTTTGGCCAAGAGAATGAAGGAGGCTAAGAAGCACCAGGGACAAATCGTGAAGAGACGCAGACTGTCCTCTCTGCGAGCTTCCACTTCTAAGTCTGAATCCAGTCAGAAATAAGATTTTTTGAGTAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCAGGGCCAGATCTAACTTAGTTATGAGGTCTGACTCAGGGGCGAGGGTAATTTTTTTTTTCTTTTTTTGAGACAAAGTCCCGCTCCGTCCCCCAGGCTGAAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTGCGGTTCCCCAGTTCAAGCAATTCCTGTGCCTCGGCCTCCCAATTAGCTGGGATTGCAGGTGCTTGCTACCCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAAGTGATCCATCTGCCTTGGCCTCCCAAAGTGCTGAGATTACATGTGTGAGCCACCTCGACTGGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATAT 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Task1_train_26594 | This is a variant in GCDH (glutaryl-CoA dehydrogenase), located on Chromosome 19. Is this mutation a likely cause of disease or not? | Pathogenic; Glutaric aciduria, type 1 | CTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCTGTTGGCCAATCGCAACGAAGGTGGGCGGGCTGGTGGGTGCCCTGAGACTGCTCCTCCGCCTGGAGCCATAGCCACCCCACCTCAAGGCCCCTCTGTCCTTGGGGCTGGGGCTTCCTGTGGCCTAGGCCTGGGCCTGAATTTGGGCACTGGTCCCTTTGCAGTTTTTCATCGGGAGATCATTTCGGAGATGGGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAGGTAGGAACAAGTATCTCTCCACACACTGCAGAACCCTCTGTATTCTGAAAGCCTCTTCCTCCTTCCCTCCCTCCCTTTCTTCCTTCCTTCTCTTTCTTTTCTTTTCCTTTTCTTTCCTTTCTTCTTCCCCCCCAACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAATTCTGCCTCCCAGGCTCAAGCGATTCTCCTGCCTCCACCCCTCTAGTAGCTGGGATTACAGGTATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTCAGCCTTCTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTTAAGTGATTATCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGATTACAGGTGTGAGCCACCGTTGCCCGGCCCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGCCTGGATTACTGGATTACAGTGGTGCGATCCTGGCTCACTGCAGTTTCCTCCTCCTAGGTTCAAGCAATTCTGCCACCTCAGCCTTCTGAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAAATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAAACGTGAGCCACCGTGCCTGGCCCCTTTGTTTCTTTTTTTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGTTCTCAAGTGATCCTCTTGCCTTACTGAAAGCCCCCTTCTTTCCCTAAGCCACAATTTCCCAGTCTGTAAAGTGGGGCTGTTGTCCCACCCTCTGAAAGTGGCTGTGGAGATGAAATGAATAAACCTCAGCTAGGGCCAGCTTGGTGCCTGCCTCCTTGTGTGTCCTTATTCAGCCCTGTCTCTTGGGTCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTTTCCCCTCCTACTACCACCAGGATATGGCTGTGCTGGGGTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCGATGAGTGTCCAGTCCTCCCTCGTCATGCACCCTATCTATGCCTATGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAAGTCCACCAGGTTCCTGCTGGCCATTTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGGACCAAAGCACCCAAGATTCAGCGCCTTGTCACTCCACATGTCCTGCAGCACAAACAGCGGCGTATTGCTCTGAAGCAGCCGCATATTAAGAAAAATAAAGAAGAGGCTGCAGAATATGCTAAACTTTTGGCCAAGAGAATGAAGGAGGCTAAGAAGCACCAGGGACAAATCGTGAAGAGACGCAGACTGTCCTCTCTGCGAGCTTCCACTTCTAAGTCTGAATCCAGTCAGAAATAAGATTTTTTGAGTAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCAGGGCCAGATCTAACTTAGTTATGAGGTCTGACTCAGGGGCGAGGGTAATTTTTTTTTTCTTTTTTTGAGACAAAGTCCCGCTCCGTCCCCCAGGCTGAAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTGCGGTTCCCCAGTTCAAGCAATTCCTGTGCCTCGGCCTCCCAATTAGCTGGGATTGCAGGTGCTTGCTACCCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAAGTGATCCATCTGCCTTGGCCTCCCAAAGTGCTGAGATTACATGTGTGAGCCACCTCGACTGGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGGATTTTTTTTCTTT 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CTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCTGTTGGCCAATCGCAACGAAGGTGGGCGGGCTGGTGGGTGCCCTGAGACTGCTCCTCCGCCTGGAGCCATAGCCACCCCACCTCAAGGCCCCTCTGTCCTTGGGGCTGGGGCTTCCTGTGGCCTAGGCCTGGGCCTGAATTTGGGCACTGGTCCCTTTGCAGTTTTTCATCGGGAGATCATTTCGGAGATGGGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAGGTAGGAACAAGTATCTCTCCACACACTGCAGAACCCTCTGTATTCTGAAAGCCTCTTCCTCCTTCCCTCCCTCCCTTTCTTCCTTCCTTCTCTTTCTTTTCTTTTCCTTTTCTTTCCTTTCTTCTTCCCCCCCAACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAATTCTGCCTCCCAGGCTCAAGCGATTCTCCTGCCTCCACCCCTCTAGTAGCTGGGATTACAGGTATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTCAGCCTTCTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTTAAGTGATTATCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGATTACAGGTGTGAGCCACCGTTGCCCGGCCCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGCCTGGATTACTGGATTACAGTGGTGCGATCCTGGCTCACTGCAGTTTCCTCCTCCTAGGTTCAAGCAATTCTGCCACCTCAGCCTTCTGAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAAATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAAACGTGAGCCACCGTGCCTGGCCCCTTTGTTTCTTTTTTTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGTTCTCAAGTGATCCTCTTGCCTTACTGAAAGCCCCCTTCTTTCCCTAAGCCACAATTTCCCAGTCTGTAAAGTGGGGCTGTTGTCCCACCCTCTGAAAGTGGCTGTGGAGATGAAATGAATAAACCTCAGCTAGGGCCAGCTTGGTGCCTGCCTCCTTGTGTGTCCTTATTCAGCCCTGTCTCTTGGGTCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTTTCCCCTCCTACTACCACCAGGATATGGCTGTGCTGGGGTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCGATGAGTGTCCCGTCCTCCCTCGTCATGCACCCTATCTATGCCTATGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAAGTCCACCAGGTTCCTGCTGGCCATTTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGGACCAAAGCACCCAAGATTCAGCGCCTTGTCACTCCACATGTCCTGCAGCACAAACAGCGGCGTATTGCTCTGAAGCAGCCGCATATTAAGAAAAATAAAGAAGAGGCTGCAGAATATGCTAAACTTTTGGCCAAGAGAATGAAGGAGGCTAAGAAGCACCAGGGACAAATCGTGAAGAGACGCAGACTGTCCTCTCTGCGAGCTTCCACTTCTAAGTCTGAATCCAGTCAGAAATAAGATTTTTTGAGTAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCAGGGCCAGATCTAACTTAGTTATGAGGTCTGACTCAGGGGCGAGGGTAATTTTTTTTTTCTTTTTTTGAGACAAAGTCCCGCTCCGTCCCCCAGGCTGAAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTGCGGTTCCCCAGTTCAAGCAATTCCTGTGCCTCGGCCTCCCAATTAGCTGGGATTGCAGGTGCTTGCTACCCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAAGTGATCCATCTGCCTTGGCCTCCCAAAGTGCTGAGATTACATGTGTGAGCCACCTCGACTGGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGGATTTTTTTTCTTT 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Task1_train_26595 | This genomic variant is located on Chromosome 19, within the GCDH (glutaryl-CoA dehydrogenase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Glutaric aciduria, type 1 | CCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCTGTTGGCCAATCGCAACGAAGGTGGGCGGGCTGGTGGGTGCCCTGAGACTGCTCCTCCGCCTGGAGCCATAGCCACCCCACCTCAAGGCCCCTCTGTCCTTGGGGCTGGGGCTTCCTGTGGCCTAGGCCTGGGCCTGAATTTGGGCACTGGTCCCTTTGCAGTTTTTCATCGGGAGATCATTTCGGAGATGGGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAGGTAGGAACAAGTATCTCTCCACACACTGCAGAACCCTCTGTATTCTGAAAGCCTCTTCCTCCTTCCCTCCCTCCCTTTCTTCCTTCCTTCTCTTTCTTTTCTTTTCCTTTTCTTTCCTTTCTTCTTCCCCCCCAACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAATTCTGCCTCCCAGGCTCAAGCGATTCTCCTGCCTCCACCCCTCTAGTAGCTGGGATTACAGGTATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTCAGCCTTCTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTTAAGTGATTATCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGATTACAGGTGTGAGCCACCGTTGCCCGGCCCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGCCTGGATTACTGGATTACAGTGGTGCGATCCTGGCTCACTGCAGTTTCCTCCTCCTAGGTTCAAGCAATTCTGCCACCTCAGCCTTCTGAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAAATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAAACGTGAGCCACCGTGCCTGGCCCCTTTGTTTCTTTTTTTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGTTCTCAAGTGATCCTCTTGCCTTACTGAAAGCCCCCTTCTTTCCCTAAGCCACAATTTCCCAGTCTGTAAAGTGGGGCTGTTGTCCCACCCTCTGAAAGTGGCTGTGGAGATGAAATGAATAAACCTCAGCTAGGGCCAGCTTGGTGCCTGCCTCCTTGTGTGTCCTTATTCAGCCCTGTCTCTTGGGTCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTTTCCCCTCCTACTACCACCAGGATATGGCTGTGCTGGGGTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCGATGAGTGTCCAGTCCTCCCTCGTCATGCACCCTATCTATGCCTATGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAAGTCCACCAGGTTCCTGCTGGCCATTTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGGACCAAAGCACCCAAGATTCAGCGCCTTGTCACTCCACATGTCCTGCAGCACAAACAGCGGCGTATTGCTCTGAAGCAGCCGCATATTAAGAAAAATAAAGAAGAGGCTGCAGAATATGCTAAACTTTTGGCCAAGAGAATGAAGGAGGCTAAGAAGCACCAGGGACAAATCGTGAAGAGACGCAGACTGTCCTCTCTGCGAGCTTCCACTTCTAAGTCTGAATCCAGTCAGAAATAAGATTTTTTGAGTAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCAGGGCCAGATCTAACTTAGTTATGAGGTCTGACTCAGGGGCGAGGGTAATTTTTTTTTTCTTTTTTTGAGACAAAGTCCCGCTCCGTCCCCCAGGCTGAAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTGCGGTTCCCCAGTTCAAGCAATTCCTGTGCCTCGGCCTCCCAATTAGCTGGGATTGCAGGTGCTTGCTACCCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAAGTGATCCATCTGCCTTGGCCTCCCAAAGTGCTGAGATTACATGTGTGAGCCACCTCGACTGGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGGATTTTTTTTCTTTTTTGAGATGGA 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CCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCTGTTGGCCAATCGCAACGAAGGTGGGCGGGCTGGTGGGTGCCCTGAGACTGCTCCTCCGCCTGGAGCCATAGCCACCCCACCTCAAGGCCCCTCTGTCCTTGGGGCTGGGGCTTCCTGTGGCCTAGGCCTGGGCCTGAATTTGGGCACTGGTCCCTTTGCAGTTTTTCATCGGGAGATCATTTCGGAGATGGGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAGGTAGGAACAAGTATCTCTCCACACACTGCAGAACCCTCTGTATTCTGAAAGCCTCTTCCTCCTTCCCTCCCTCCCTTTCTTCCTTCCTTCTCTTTCTTTTCTTTTCCTTTTCTTTCCTTTCTTCTTCCCCCCCAACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAATTCTGCCTCCCAGGCTCAAGCGATTCTCCTGCCTCCACCCCTCTAGTAGCTGGGATTACAGGTATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTCAGCCTTCTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTTAAGTGATTATCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGATTACAGGTGTGAGCCACCGTTGCCCGGCCCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGCCTGGATTACTGGATTACAGTGGTGCGATCCTGGCTCACTGCAGTTTCCTCCTCCTAGGTTCAAGCAATTCTGCCACCTCAGCCTTCTGAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAAATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAAACGTGAGCCACCGTGCCTGGCCCCTTTGTTTCTTTTTTTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGTTCTCAAGTGATCCTCTTGCCTTACTGAAAGCCCCCTTCTTTCCCTAAGCCACAATTTCCCAGTCTGTAAAGTGGGGCTGTTGTCCCACCCTCTGAAAGTGGCTGTGGAGATGAAATGAATAAACCTCAGCTAGGGCCAGCTTGGTGCCTGCCTCCTTGTGTGTCCTTATTCAGCCCTGTCTCTTGGGTCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTTTCCCCTCCTACTACCACCAGGATATGGCTGTGCTGGGGTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCGATGAGTGTCCAGTCCTCCCTCATCATGCACCCTATCTATGCCTATGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAAGTCCACCAGGTTCCTGCTGGCCATTTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGGACCAAAGCACCCAAGATTCAGCGCCTTGTCACTCCACATGTCCTGCAGCACAAACAGCGGCGTATTGCTCTGAAGCAGCCGCATATTAAGAAAAATAAAGAAGAGGCTGCAGAATATGCTAAACTTTTGGCCAAGAGAATGAAGGAGGCTAAGAAGCACCAGGGACAAATCGTGAAGAGACGCAGACTGTCCTCTCTGCGAGCTTCCACTTCTAAGTCTGAATCCAGTCAGAAATAAGATTTTTTGAGTAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCAGGGCCAGATCTAACTTAGTTATGAGGTCTGACTCAGGGGCGAGGGTAATTTTTTTTTTCTTTTTTTGAGACAAAGTCCCGCTCCGTCCCCCAGGCTGAAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTGCGGTTCCCCAGTTCAAGCAATTCCTGTGCCTCGGCCTCCCAATTAGCTGGGATTGCAGGTGCTTGCTACCCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAAGTGATCCATCTGCCTTGGCCTCCCAAAGTGCTGAGATTACATGTGTGAGCCACCTCGACTGGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGGATTTTTTTTCTTTTTTGAGATGGA 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Task1_train_26596 | This sequence change occurs on Chromosome 19, altering GCDH (glutaryl-CoA dehydrogenase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Glutaric aciduria, type 1 | CCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCTGTTGGCCAATCGCAACGAAGGTGGGCGGGCTGGTGGGTGCCCTGAGACTGCTCCTCCGCCTGGAGCCATAGCCACCCCACCTCAAGGCCCCTCTGTCCTTGGGGCTGGGGCTTCCTGTGGCCTAGGCCTGGGCCTGAATTTGGGCACTGGTCCCTTTGCAGTTTTTCATCGGGAGATCATTTCGGAGATGGGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAGGTAGGAACAAGTATCTCTCCACACACTGCAGAACCCTCTGTATTCTGAAAGCCTCTTCCTCCTTCCCTCCCTCCCTTTCTTCCTTCCTTCTCTTTCTTTTCTTTTCCTTTTCTTTCCTTTCTTCTTCCCCCCCAACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAATTCTGCCTCCCAGGCTCAAGCGATTCTCCTGCCTCCACCCCTCTAGTAGCTGGGATTACAGGTATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTCAGCCTTCTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTTAAGTGATTATCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGATTACAGGTGTGAGCCACCGTTGCCCGGCCCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGCCTGGATTACTGGATTACAGTGGTGCGATCCTGGCTCACTGCAGTTTCCTCCTCCTAGGTTCAAGCAATTCTGCCACCTCAGCCTTCTGAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAAATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAAACGTGAGCCACCGTGCCTGGCCCCTTTGTTTCTTTTTTTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGTTCTCAAGTGATCCTCTTGCCTTACTGAAAGCCCCCTTCTTTCCCTAAGCCACAATTTCCCAGTCTGTAAAGTGGGGCTGTTGTCCCACCCTCTGAAAGTGGCTGTGGAGATGAAATGAATAAACCTCAGCTAGGGCCAGCTTGGTGCCTGCCTCCTTGTGTGTCCTTATTCAGCCCTGTCTCTTGGGTCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTTTCCCCTCCTACTACCACCAGGATATGGCTGTGCTGGGGTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCGATGAGTGTCCAGTCCTCCCTCGTCATGCACCCTATCTATGCCTATGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAAGTCCACCAGGTTCCTGCTGGCCATTTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGGACCAAAGCACCCAAGATTCAGCGCCTTGTCACTCCACATGTCCTGCAGCACAAACAGCGGCGTATTGCTCTGAAGCAGCCGCATATTAAGAAAAATAAAGAAGAGGCTGCAGAATATGCTAAACTTTTGGCCAAGAGAATGAAGGAGGCTAAGAAGCACCAGGGACAAATCGTGAAGAGACGCAGACTGTCCTCTCTGCGAGCTTCCACTTCTAAGTCTGAATCCAGTCAGAAATAAGATTTTTTGAGTAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCAGGGCCAGATCTAACTTAGTTATGAGGTCTGACTCAGGGGCGAGGGTAATTTTTTTTTTCTTTTTTTGAGACAAAGTCCCGCTCCGTCCCCCAGGCTGAAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTGCGGTTCCCCAGTTCAAGCAATTCCTGTGCCTCGGCCTCCCAATTAGCTGGGATTGCAGGTGCTTGCTACCCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAAGTGATCCATCTGCCTTGGCCTCCCAAAGTGCTGAGATTACATGTGTGAGCCACCTCGACTGGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGGATTTTTTTTCTTTTTTGAGATGGAGTCTTGCTCTGTTG 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CCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCTGTTGGCCAATCGCAACGAAGGTGGGCGGGCTGGTGGGTGCCCTGAGACTGCTCCTCCGCCTGGAGCCATAGCCACCCCACCTCAAGGCCCCTCTGTCCTTGGGGCTGGGGCTTCCTGTGGCCTAGGCCTGGGCCTGAATTTGGGCACTGGTCCCTTTGCAGTTTTTCATCGGGAGATCATTTCGGAGATGGGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAGGTAGGAACAAGTATCTCTCCACACACTGCAGAACCCTCTGTATTCTGAAAGCCTCTTCCTCCTTCCCTCCCTCCCTTTCTTCCTTCCTTCTCTTTCTTTTCTTTTCCTTTTCTTTCCTTTCTTCTTCCCCCCCAACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAATTCTGCCTCCCAGGCTCAAGCGATTCTCCTGCCTCCACCCCTCTAGTAGCTGGGATTACAGGTATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTCAGCCTTCTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTTAAGTGATTATCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGATTACAGGTGTGAGCCACCGTTGCCCGGCCCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGCCTGGATTACTGGATTACAGTGGTGCGATCCTGGCTCACTGCAGTTTCCTCCTCCTAGGTTCAAGCAATTCTGCCACCTCAGCCTTCTGAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAAATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAAACGTGAGCCACCGTGCCTGGCCCCTTTGTTTCTTTTTTTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGTTCTCAAGTGATCCTCTTGCCTTACTGAAAGCCCCCTTCTTTCCCTAAGCCACAATTTCCCAGTCTGTAAAGTGGGGCTGTTGTCCCACCCTCTGAAAGTGGCTGTGGAGATGAAATGAATAAACCTCAGCTAGGGCCAGCTTGGTGCCTGCCTCCTTGTGTGTCCTTATTCAGCCCTGTCTCTTGGGTCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTTTCCCCTCCTACTACCACCAGGATATGGCTGTGCTGGGGTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCGATGAGTGTCCAGTCCTCCCTCGTCATGCACCCTATGTATGCCTATGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAAGTCCACCAGGTTCCTGCTGGCCATTTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGGACCAAAGCACCCAAGATTCAGCGCCTTGTCACTCCACATGTCCTGCAGCACAAACAGCGGCGTATTGCTCTGAAGCAGCCGCATATTAAGAAAAATAAAGAAGAGGCTGCAGAATATGCTAAACTTTTGGCCAAGAGAATGAAGGAGGCTAAGAAGCACCAGGGACAAATCGTGAAGAGACGCAGACTGTCCTCTCTGCGAGCTTCCACTTCTAAGTCTGAATCCAGTCAGAAATAAGATTTTTTGAGTAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCAGGGCCAGATCTAACTTAGTTATGAGGTCTGACTCAGGGGCGAGGGTAATTTTTTTTTTCTTTTTTTGAGACAAAGTCCCGCTCCGTCCCCCAGGCTGAAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTGCGGTTCCCCAGTTCAAGCAATTCCTGTGCCTCGGCCTCCCAATTAGCTGGGATTGCAGGTGCTTGCTACCCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAAGTGATCCATCTGCCTTGGCCTCCCAAAGTGCTGAGATTACATGTGTGAGCCACCTCGACTGGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGGATTTTTTTTCTTTTTTGAGATGGAGTCTTGCTCTGTTG 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Task1_train_26597 | Mutation context: Chromosome 19, Gene GCDH (glutaryl-CoA dehydrogenase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Glutaric aciduria, type 1 | TCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCTGTTGGCCAATCGCAACGAAGGTGGGCGGGCTGGTGGGTGCCCTGAGACTGCTCCTCCGCCTGGAGCCATAGCCACCCCACCTCAAGGCCCCTCTGTCCTTGGGGCTGGGGCTTCCTGTGGCCTAGGCCTGGGCCTGAATTTGGGCACTGGTCCCTTTGCAGTTTTTCATCGGGAGATCATTTCGGAGATGGGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAGGTAGGAACAAGTATCTCTCCACACACTGCAGAACCCTCTGTATTCTGAAAGCCTCTTCCTCCTTCCCTCCCTCCCTTTCTTCCTTCCTTCTCTTTCTTTTCTTTTCCTTTTCTTTCCTTTCTTCTTCCCCCCCAACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAATTCTGCCTCCCAGGCTCAAGCGATTCTCCTGCCTCCACCCCTCTAGTAGCTGGGATTACAGGTATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTCAGCCTTCTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTTAAGTGATTATCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGATTACAGGTGTGAGCCACCGTTGCCCGGCCCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGCCTGGATTACTGGATTACAGTGGTGCGATCCTGGCTCACTGCAGTTTCCTCCTCCTAGGTTCAAGCAATTCTGCCACCTCAGCCTTCTGAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAAATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAAACGTGAGCCACCGTGCCTGGCCCCTTTGTTTCTTTTTTTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGTTCTCAAGTGATCCTCTTGCCTTACTGAAAGCCCCCTTCTTTCCCTAAGCCACAATTTCCCAGTCTGTAAAGTGGGGCTGTTGTCCCACCCTCTGAAAGTGGCTGTGGAGATGAAATGAATAAACCTCAGCTAGGGCCAGCTTGGTGCCTGCCTCCTTGTGTGTCCTTATTCAGCCCTGTCTCTTGGGTCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTTTCCCCTCCTACTACCACCAGGATATGGCTGTGCTGGGGTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCGATGAGTGTCCAGTCCTCCCTCGTCATGCACCCTATCTATGCCTATGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAAGTCCACCAGGTTCCTGCTGGCCATTTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGGACCAAAGCACCCAAGATTCAGCGCCTTGTCACTCCACATGTCCTGCAGCACAAACAGCGGCGTATTGCTCTGAAGCAGCCGCATATTAAGAAAAATAAAGAAGAGGCTGCAGAATATGCTAAACTTTTGGCCAAGAGAATGAAGGAGGCTAAGAAGCACCAGGGACAAATCGTGAAGAGACGCAGACTGTCCTCTCTGCGAGCTTCCACTTCTAAGTCTGAATCCAGTCAGAAATAAGATTTTTTGAGTAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCAGGGCCAGATCTAACTTAGTTATGAGGTCTGACTCAGGGGCGAGGGTAATTTTTTTTTTCTTTTTTTGAGACAAAGTCCCGCTCCGTCCCCCAGGCTGAAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTGCGGTTCCCCAGTTCAAGCAATTCCTGTGCCTCGGCCTCCCAATTAGCTGGGATTGCAGGTGCTTGCTACCCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAAGTGATCCATCTGCCTTGGCCTCCCAAAGTGCTGAGATTACATGTGTGAGCCACCTCGACTGGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGGATTTTTTTTCTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGC 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TCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCTGTTGGCCAATCGCAACGAAGGTGGGCGGGCTGGTGGGTGCCCTGAGACTGCTCCTCCGCCTGGAGCCATAGCCACCCCACCTCAAGGCCCCTCTGTCCTTGGGGCTGGGGCTTCCTGTGGCCTAGGCCTGGGCCTGAATTTGGGCACTGGTCCCTTTGCAGTTTTTCATCGGGAGATCATTTCGGAGATGGGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAGGTAGGAACAAGTATCTCTCCACACACTGCAGAACCCTCTGTATTCTGAAAGCCTCTTCCTCCTTCCCTCCCTCCCTTTCTTCCTTCCTTCTCTTTCTTTTCTTTTCCTTTTCTTTCCTTTCTTCTTCCCCCCCAACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAATTCTGCCTCCCAGGCTCAAGCGATTCTCCTGCCTCCACCCCTCTAGTAGCTGGGATTACAGGTATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTCAGCCTTCTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTTAAGTGATTATCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGATTACAGGTGTGAGCCACCGTTGCCCGGCCCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGCCTGGATTACTGGATTACAGTGGTGCGATCCTGGCTCACTGCAGTTTCCTCCTCCTAGGTTCAAGCAATTCTGCCACCTCAGCCTTCTGAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAAATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAAACGTGAGCCACCGTGCCTGGCCCCTTTGTTTCTTTTTTTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGTTCTCAAGTGATCCTCTTGCCTTACTGAAAGCCCCCTTCTTTCCCTAAGCCACAATTTCCCAGTCTGTAAAGTGGGGCTGTTGTCCCACCCTCTGAAAGTGGCTGTGGAGATGAAATGAATAAACCTCAGCTAGGGCCAGCTTGGTGCCTGCCTCCTTGTGTGTCCTTATTCAGCCCTGTCTCTTGGGTCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTTTCCCCTCCTACTACCACCAGGATATGGCTGTGCTGGGGTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCGATGAGTGTCCAGTCCTCCCTCGTCATGCACCCTATCTATGCCCATGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAAGTCCACCAGGTTCCTGCTGGCCATTTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGGACCAAAGCACCCAAGATTCAGCGCCTTGTCACTCCACATGTCCTGCAGCACAAACAGCGGCGTATTGCTCTGAAGCAGCCGCATATTAAGAAAAATAAAGAAGAGGCTGCAGAATATGCTAAACTTTTGGCCAAGAGAATGAAGGAGGCTAAGAAGCACCAGGGACAAATCGTGAAGAGACGCAGACTGTCCTCTCTGCGAGCTTCCACTTCTAAGTCTGAATCCAGTCAGAAATAAGATTTTTTGAGTAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCAGGGCCAGATCTAACTTAGTTATGAGGTCTGACTCAGGGGCGAGGGTAATTTTTTTTTTCTTTTTTTGAGACAAAGTCCCGCTCCGTCCCCCAGGCTGAAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTGCGGTTCCCCAGTTCAAGCAATTCCTGTGCCTCGGCCTCCCAATTAGCTGGGATTGCAGGTGCTTGCTACCCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAAGTGATCCATCTGCCTTGGCCTCCCAAAGTGCTGAGATTACATGTGTGAGCCACCTCGACTGGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGGATTTTTTTTCTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGC 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Task1_train_26598 | Gene GCDH (glutaryl-CoA dehydrogenase) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Glutaric aciduria, type 1 | CAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCTGTTGGCCAATCGCAACGAAGGTGGGCGGGCTGGTGGGTGCCCTGAGACTGCTCCTCCGCCTGGAGCCATAGCCACCCCACCTCAAGGCCCCTCTGTCCTTGGGGCTGGGGCTTCCTGTGGCCTAGGCCTGGGCCTGAATTTGGGCACTGGTCCCTTTGCAGTTTTTCATCGGGAGATCATTTCGGAGATGGGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAGGTAGGAACAAGTATCTCTCCACACACTGCAGAACCCTCTGTATTCTGAAAGCCTCTTCCTCCTTCCCTCCCTCCCTTTCTTCCTTCCTTCTCTTTCTTTTCTTTTCCTTTTCTTTCCTTTCTTCTTCCCCCCCAACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAATTCTGCCTCCCAGGCTCAAGCGATTCTCCTGCCTCCACCCCTCTAGTAGCTGGGATTACAGGTATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTCAGCCTTCTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTTAAGTGATTATCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGATTACAGGTGTGAGCCACCGTTGCCCGGCCCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGCCTGGATTACTGGATTACAGTGGTGCGATCCTGGCTCACTGCAGTTTCCTCCTCCTAGGTTCAAGCAATTCTGCCACCTCAGCCTTCTGAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAAATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAAACGTGAGCCACCGTGCCTGGCCCCTTTGTTTCTTTTTTTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGTTCTCAAGTGATCCTCTTGCCTTACTGAAAGCCCCCTTCTTTCCCTAAGCCACAATTTCCCAGTCTGTAAAGTGGGGCTGTTGTCCCACCCTCTGAAAGTGGCTGTGGAGATGAAATGAATAAACCTCAGCTAGGGCCAGCTTGGTGCCTGCCTCCTTGTGTGTCCTTATTCAGCCCTGTCTCTTGGGTCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTTTCCCCTCCTACTACCACCAGGATATGGCTGTGCTGGGGTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCGATGAGTGTCCAGTCCTCCCTCGTCATGCACCCTATCTATGCCTATGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAAGTCCACCAGGTTCCTGCTGGCCATTTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGGACCAAAGCACCCAAGATTCAGCGCCTTGTCACTCCACATGTCCTGCAGCACAAACAGCGGCGTATTGCTCTGAAGCAGCCGCATATTAAGAAAAATAAAGAAGAGGCTGCAGAATATGCTAAACTTTTGGCCAAGAGAATGAAGGAGGCTAAGAAGCACCAGGGACAAATCGTGAAGAGACGCAGACTGTCCTCTCTGCGAGCTTCCACTTCTAAGTCTGAATCCAGTCAGAAATAAGATTTTTTGAGTAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCAGGGCCAGATCTAACTTAGTTATGAGGTCTGACTCAGGGGCGAGGGTAATTTTTTTTTTCTTTTTTTGAGACAAAGTCCCGCTCCGTCCCCCAGGCTGAAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTGCGGTTCCCCAGTTCAAGCAATTCCTGTGCCTCGGCCTCCCAATTAGCTGGGATTGCAGGTGCTTGCTACCCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAAGTGATCCATCTGCCTTGGCCTCCCAAAGTGCTGAGATTACATGTGTGAGCCACCTCGACTGGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGGATTTTTTTTCTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCT 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CAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCTGTTGGCCAATCGCAACGAAGGTGGGCGGGCTGGTGGGTGCCCTGAGACTGCTCCTCCGCCTGGAGCCATAGCCACCCCACCTCAAGGCCCCTCTGTCCTTGGGGCTGGGGCTTCCTGTGGCCTAGGCCTGGGCCTGAATTTGGGCACTGGTCCCTTTGCAGTTTTTCATCGGGAGATCATTTCGGAGATGGGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAGGTAGGAACAAGTATCTCTCCACACACTGCAGAACCCTCTGTATTCTGAAAGCCTCTTCCTCCTTCCCTCCCTCCCTTTCTTCCTTCCTTCTCTTTCTTTTCTTTTCCTTTTCTTTCCTTTCTTCTTCCCCCCCAACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAATTCTGCCTCCCAGGCTCAAGCGATTCTCCTGCCTCCACCCCTCTAGTAGCTGGGATTACAGGTATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTCAGCCTTCTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTTAAGTGATTATCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGATTACAGGTGTGAGCCACCGTTGCCCGGCCCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGCCTGGATTACTGGATTACAGTGGTGCGATCCTGGCTCACTGCAGTTTCCTCCTCCTAGGTTCAAGCAATTCTGCCACCTCAGCCTTCTGAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAAATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAAACGTGAGCCACCGTGCCTGGCCCCTTTGTTTCTTTTTTTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGTTCTCAAGTGATCCTCTTGCCTTACTGAAAGCCCCCTTCTTTCCCTAAGCCACAATTTCCCAGTCTGTAAAGTGGGGCTGTTGTCCCACCCTCTGAAAGTGGCTGTGGAGATGAAATGAATAAACCTCAGCTAGGGCCAGCTTGGTGCCTGCCTCCTTGTGTGTCCTTATTCAGCCCTGTCTCTTGGGTCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTTTCCCCTCCTACTACCACCAGGATATGGCTGTGCTGGGGTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCGATGAGTGTCCAGTCCTCCCTCGTCATGCACCCTATCTATGCCTGTGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAAGTCCACCAGGTTCCTGCTGGCCATTTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGGACCAAAGCACCCAAGATTCAGCGCCTTGTCACTCCACATGTCCTGCAGCACAAACAGCGGCGTATTGCTCTGAAGCAGCCGCATATTAAGAAAAATAAAGAAGAGGCTGCAGAATATGCTAAACTTTTGGCCAAGAGAATGAAGGAGGCTAAGAAGCACCAGGGACAAATCGTGAAGAGACGCAGACTGTCCTCTCTGCGAGCTTCCACTTCTAAGTCTGAATCCAGTCAGAAATAAGATTTTTTGAGTAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCAGGGCCAGATCTAACTTAGTTATGAGGTCTGACTCAGGGGCGAGGGTAATTTTTTTTTTCTTTTTTTGAGACAAAGTCCCGCTCCGTCCCCCAGGCTGAAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTGCGGTTCCCCAGTTCAAGCAATTCCTGTGCCTCGGCCTCCCAATTAGCTGGGATTGCAGGTGCTTGCTACCCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAAGTGATCCATCTGCCTTGGCCTCCCAAAGTGCTGAGATTACATGTGTGAGCCACCTCGACTGGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGGATTTTTTTTCTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCT 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Task1_train_26599 | This genomic variant is located on Chromosome 19, within the GCDH (glutaryl-CoA dehydrogenase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Glutaric aciduria, type 1 | CTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCTGTTGGCCAATCGCAACGAAGGTGGGCGGGCTGGTGGGTGCCCTGAGACTGCTCCTCCGCCTGGAGCCATAGCCACCCCACCTCAAGGCCCCTCTGTCCTTGGGGCTGGGGCTTCCTGTGGCCTAGGCCTGGGCCTGAATTTGGGCACTGGTCCCTTTGCAGTTTTTCATCGGGAGATCATTTCGGAGATGGGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAGGTAGGAACAAGTATCTCTCCACACACTGCAGAACCCTCTGTATTCTGAAAGCCTCTTCCTCCTTCCCTCCCTCCCTTTCTTCCTTCCTTCTCTTTCTTTTCTTTTCCTTTTCTTTCCTTTCTTCTTCCCCCCCAACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAATTCTGCCTCCCAGGCTCAAGCGATTCTCCTGCCTCCACCCCTCTAGTAGCTGGGATTACAGGTATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTCAGCCTTCTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTTAAGTGATTATCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGATTACAGGTGTGAGCCACCGTTGCCCGGCCCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGCCTGGATTACTGGATTACAGTGGTGCGATCCTGGCTCACTGCAGTTTCCTCCTCCTAGGTTCAAGCAATTCTGCCACCTCAGCCTTCTGAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAAATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAAACGTGAGCCACCGTGCCTGGCCCCTTTGTTTCTTTTTTTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGTTCTCAAGTGATCCTCTTGCCTTACTGAAAGCCCCCTTCTTTCCCTAAGCCACAATTTCCCAGTCTGTAAAGTGGGGCTGTTGTCCCACCCTCTGAAAGTGGCTGTGGAGATGAAATGAATAAACCTCAGCTAGGGCCAGCTTGGTGCCTGCCTCCTTGTGTGTCCTTATTCAGCCCTGTCTCTTGGGTCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTTTCCCCTCCTACTACCACCAGGATATGGCTGTGCTGGGGTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCGATGAGTGTCCAGTCCTCCCTCGTCATGCACCCTATCTATGCCTATGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAAGTCCACCAGGTTCCTGCTGGCCATTTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGGACCAAAGCACCCAAGATTCAGCGCCTTGTCACTCCACATGTCCTGCAGCACAAACAGCGGCGTATTGCTCTGAAGCAGCCGCATATTAAGAAAAATAAAGAAGAGGCTGCAGAATATGCTAAACTTTTGGCCAAGAGAATGAAGGAGGCTAAGAAGCACCAGGGACAAATCGTGAAGAGACGCAGACTGTCCTCTCTGCGAGCTTCCACTTCTAAGTCTGAATCCAGTCAGAAATAAGATTTTTTGAGTAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCAGGGCCAGATCTAACTTAGTTATGAGGTCTGACTCAGGGGCGAGGGTAATTTTTTTTTTCTTTTTTTGAGACAAAGTCCCGCTCCGTCCCCCAGGCTGAAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTGCGGTTCCCCAGTTCAAGCAATTCCTGTGCCTCGGCCTCCCAATTAGCTGGGATTGCAGGTGCTTGCTACCCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAAGTGATCCATCTGCCTTGGCCTCCCAAAGTGCTGAGATTACATGTGTGAGCCACCTCGACTGGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGGATTTTTTTTCTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGTA 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CTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCTGTTGGCCAATCGCAACGAAGGTGGGCGGGCTGGTGGGTGCCCTGAGACTGCTCCTCCGCCTGGAGCCATAGCCACCCCACCTCAAGGCCCCTCTGTCCTTGGGGCTGGGGCTTCCTGTGGCCTAGGCCTGGGCCTGAATTTGGGCACTGGTCCCTTTGCAGTTTTTCATCGGGAGATCATTTCGGAGATGGGGGAGTTGGGTGTGCTGGGCCCCACCATCAAAGGTAGGAACAAGTATCTCTCCACACACTGCAGAACCCTCTGTATTCTGAAAGCCTCTTCCTCCTTCCCTCCCTCCCTTTCTTCCTTCCTTCTCTTTCTTTTCTTTTCCTTTTCTTTCCTTTCTTCTTCCCCCCCAACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAATTCTGCCTCCCAGGCTCAAGCGATTCTCCTGCCTCCACCCCTCTAGTAGCTGGGATTACAGGTATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTCAGCCTTCTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTTAAGTGATTATCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGATTACAGGTGTGAGCCACCGTTGCCCGGCCCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGCCTGGATTACTGGATTACAGTGGTGCGATCCTGGCTCACTGCAGTTTCCTCCTCCTAGGTTCAAGCAATTCTGCCACCTCAGCCTTCTGAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAAATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAAACGTGAGCCACCGTGCCTGGCCCCTTTGTTTCTTTTTTTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGTTCTCAAGTGATCCTCTTGCCTTACTGAAAGCCCCCTTCTTTCCCTAAGCCACAATTTCCCAGTCTGTAAAGTGGGGCTGTTGTCCCACCCTCTGAAAGTGGCTGTGGAGATGAAATGAATAAACCTCAGCTAGGGCCAGCTTGGTGCCTGCCTCCTTGTGTGTCCTTATTCAGCCCTGTCTCTTGGGTCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTTTCCCCTCCTACTACCACCAGGATATGGCTGTGCTGGGGTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCGATGAGTGTCCAGTCCTCCCTCGTCATGCACCCTATCTATGCCTATGTCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAAGTCCACCAGGTTCCTGCTGGCCATTTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGGACCAAAGCACCCAAGATTCAGCGCCTTGTCACTCCACATGTCCTGCAGCACAAACAGCGGCGTATTGCTCTGAAGCAGCCGCATATTAAGAAAAATAAAGAAGAGGCTGCAGAATATGCTAAACTTTTGGCCAAGAGAATGAAGGAGGCTAAGAAGCACCAGGGACAAATCGTGAAGAGACGCAGACTGTCCTCTCTGCGAGCTTCCACTTCTAAGTCTGAATCCAGTCAGAAATAAGATTTTTTGAGTAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCAGGGCCAGATCTAACTTAGTTATGAGGTCTGACTCAGGGGCGAGGGTAATTTTTTTTTTCTTTTTTTGAGACAAAGTCCCGCTCCGTCCCCCAGGCTGAAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTGCGGTTCCCCAGTTCAAGCAATTCCTGTGCCTCGGCCTCCCAATTAGCTGGGATTGCAGGTGCTTGCTACCCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAAGTGATCCATCTGCCTTGGCCTCCCAAAGTGCTGAGATTACATGTGTGAGCCACCTCGACTGGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGGATTTTTTTTCTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGTA 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